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DDG2P v6.424 UROC1 Achchuthan Shanmugasundram edited their review of gene: UROC1: Changed phenotypes to: UROC1-related urocanase deficiency, OMIM:276880, MONDO:0010167
DDG2P v6.424 UROC1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: UROC1 was changed from Other to None
DDG2P v6.424 TRIT1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TRIT1 was changed from Other - please provide details in the comments to None
DDG2P v6.423 MIR184 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MIR184 was changed from Other to None
DDG2P v6.423 CHRNA2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CHRNA2 was changed from Other to None
DDG2P v6.422 ZSCAN10 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ZSCAN10 was changed from Other to None
DDG2P v6.421 ZNF713 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ZNF713 was changed from Other to None
DDG2P v6.421 ZNF526 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ZNF526 was changed from Other to None
DDG2P v6.420 ZNF407 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ZNF407 was changed from Other to None
DDG2P v6.420 ZMYND8 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ZMYND8 was changed from Other to None
DDG2P v6.419 CYHR1 Achchuthan Shanmugasundram changed review comment from: The HGNC approved official gene symbol for CYHR1 is ZFTRAF1.; to: The 'new-gene-symbol' tag has been added as the HGNC approved official gene symbol for CYHR1 is ZFTRAF1.
DDG2P v6.419 CYHR1 Achchuthan Shanmugasundram commented on gene: CYHR1: The HGNC approved official gene symbol for CYHR1 is ZFTRAF1.
DDG2P v6.419 CYHR1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CYHR1 was changed from Other to None
DDG2P v6.418 ZFHX3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ZFHX3 was changed from Other to None
DDG2P v6.417 ZBTB47 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ZBTB47 was changed from Other to None
DDG2P v6.416 ZBTB16 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ZBTB16 was changed from Other to None
DDG2P v6.416 ZBTB11 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ZBTB11 was changed from Other to None
DDG2P v6.415 YY1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: YY1 was changed from Other to None
DDG2P v6.415 YWHAZ Achchuthan Shanmugasundram Mode of pathogenicity for gene: YWHAZ was changed from Other to None
DDG2P v6.414 WRAP53 Achchuthan Shanmugasundram Mode of pathogenicity for gene: WRAP53 was changed from Other to None
DDG2P v6.414 WNT7A Achchuthan Shanmugasundram Mode of pathogenicity for gene: WNT7A was changed from Other to None
DDG2P v6.413 WNT5A Achchuthan Shanmugasundram Mode of pathogenicity for gene: WNT5A was changed from Other to None
DDG2P v6.413 WNT4 Achchuthan Shanmugasundram Mode of pathogenicity for gene: WNT4 was changed from Other to None
DDG2P v6.412 WDR81 Achchuthan Shanmugasundram Mode of pathogenicity for gene: WDR81 was changed from Other to None
DDG2P v6.412 WDR5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: WDR5 was changed from Other to None
DDG2P v6.411 WDR45B Achchuthan Shanmugasundram Mode of pathogenicity for gene: WDR45B was changed from Other - please provide details in the comments to None
DDG2P v6.411 WDR37 Achchuthan Shanmugasundram Mode of pathogenicity for gene: WDR37 was changed from Other to None
DDG2P v6.410 WDR11 Achchuthan Shanmugasundram Mode of pathogenicity for gene: WDR11 was changed from Other - please provide details in the comments to None
DDG2P v6.409 VPS4A Achchuthan Shanmugasundram Mode of pathogenicity for gene: VPS4A was changed from Other to None
DDG2P v6.409 VANGL1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: VANGL1 was changed from Other to None
DDG2P v6.408 VAMP2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: VAMP2 was changed from Other to None
DDG2P v6.407 VAC14 Achchuthan Shanmugasundram Mode of pathogenicity for gene: VAC14 was changed from Other to None
DDG2P v6.406 UTP4 Achchuthan Shanmugasundram Mode of pathogenicity for gene: UTP4 was changed from Other to None
DDG2P v6.405 USP14 Achchuthan Shanmugasundram Mode of pathogenicity for gene: USP14 was changed from Other to None
DDG2P v6.405 UQCRQ Achchuthan Shanmugasundram Mode of pathogenicity for gene: UQCRQ was changed from Other to None
DDG2P v6.404 UNC45B Achchuthan Shanmugasundram Mode of pathogenicity for gene: UNC45B was changed from Other to None
DDG2P v6.404 UHRF1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: UHRF1 was changed from Other to None
DDG2P v6.403 UFSP2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: UFSP2 was changed from Other to None
DDG2P v6.402 UFC1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: UFC1 was changed from Other to None
DDG2P v6.402 UBR7 Achchuthan Shanmugasundram Mode of pathogenicity for gene: UBR7 was changed from Other - please provide details in the comments to None
DDG2P v6.401 U2AF2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: U2AF2 was changed from Other to None
DDG2P v6.400 TUFM Achchuthan Shanmugasundram Mode of pathogenicity for gene: TUFM was changed from Other to None
DDG2P v6.399 TUBGCP2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TUBGCP2 was changed from Other to None
DDG2P v6.398 TUBG1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TUBG1 was changed from Other to None
DDG2P v6.397 TUBB3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TUBB3 was changed from Other to None
DDG2P v6.397 TUBB2A Achchuthan Shanmugasundram Mode of pathogenicity for gene: TUBB2A was changed from Other to None
DDG2P v6.396 TUBB Achchuthan Shanmugasundram Mode of pathogenicity for gene: TUBB was changed from Other to None
DDG2P v6.396 TTI2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TTI2 was changed from Other to None
DDG2P v6.395 TSHR Achchuthan Shanmugasundram Mode of pathogenicity for gene: TSHR was changed from Other to None
DDG2P v6.395 TSEN34 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TSEN34 was changed from Other to None
DDG2P v6.394 TSEN2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TSEN2 was changed from Other to None
DDG2P v6.393 TSEN15 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TSEN15 was changed from Other to None
DDG2P v6.392 TRRAP Achchuthan Shanmugasundram Mode of pathogenicity for gene: TRRAP was changed from Other to None
DDG2P v6.392 TRPV4 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TRPV4 was changed from Other to None
DDG2P v6.391 TRPV3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TRPV3 was changed from Other to None
DDG2P v6.391 TRPM3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TRPM3 was changed from Other to None
DDG2P v6.390 TRMT10C Achchuthan Shanmugasundram Mode of pathogenicity for gene: TRMT10C was changed from Other to None
DDG2P v6.390 TRIO Achchuthan Shanmugasundram Mode of pathogenicity for gene: TRIO was changed from Other to None
DDG2P v6.389 TRAPPC2L Achchuthan Shanmugasundram Mode of pathogenicity for gene: TRAPPC2L was changed from Other to None
DDG2P v6.388 TRAPPC10 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TRAPPC10 was changed from Other to None
DDG2P v6.388 TRAF7 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TRAF7 was changed from Other to None
DDG2P v6.387 TRA2B Achchuthan Shanmugasundram Mode of pathogenicity for gene: TRA2B was changed from Other to None
DDG2P v6.386 TPRKB Achchuthan Shanmugasundram Mode of pathogenicity for gene: TPRKB was changed from Other to None
DDG2P v6.385 TPM3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TPM3 was changed from Other to None
DDG2P v6.385 TPM2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TPM2 was changed from Other to None
DDG2P v6.384 TNPO2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TNPO2 was changed from Other to None
DDG2P v6.383 TMEM63A Achchuthan Shanmugasundram Mode of pathogenicity for gene: TMEM63A was changed from Other to None
DDG2P v6.383 TMEM216 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TMEM216 was changed from Other to None
DDG2P v6.382 TMEM163 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TMEM163 was changed from Other to None
DDG2P v6.382 TMEM135 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TMEM135 was changed from Other to None
DDG2P v6.381 TMEM106B Achchuthan Shanmugasundram Mode of pathogenicity for gene: TMEM106B was changed from Other to None
DDG2P v6.381 TLL1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TLL1 was changed from Other to None
DDG2P v6.380 TK2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TK2 was changed from Other to None
DDG2P v6.380 THOC2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: THOC2 was changed from Other to None
DDG2P v6.379 THG1L Achchuthan Shanmugasundram Mode of pathogenicity for gene: THG1L was changed from Other to None
DDG2P v6.379 TGFB1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TGFB1 was changed from Other to None
DDG2P v6.378 TFRC Achchuthan Shanmugasundram Mode of pathogenicity for gene: TFRC was changed from Other to None
DDG2P v6.378 TFE3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TFE3 was changed from Other to None
DDG2P v6.377 TFAP2B Achchuthan Shanmugasundram Mode of pathogenicity for gene: TFAP2B was changed from Other to None
DDG2P v6.376 TFAP2A Achchuthan Shanmugasundram Mode of pathogenicity for gene: TFAP2A was changed from Other to None
DDG2P v6.376 TELO2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TELO2 was changed from Other to None
DDG2P v6.375 TDRD7 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TDRD7 was changed from Other to None
DDG2P v6.375 TCEAL1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TCEAL1 was changed from Other to None
DDG2P v6.374 TBXAS1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TBXAS1 was changed from Other to None
DDG2P v6.374 TAF2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TAF2 was changed from Other to None
DDG2P v6.373 TAF13 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TAF13 was changed from Other to None
DDG2P v6.373 TACR3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TACR3 was changed from Other to None
DDG2P v6.372 TAC3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TAC3 was changed from Other to None
DDG2P v6.371 TAB2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: TAB2 was changed from Other to None
DDG2P v6.370 SYT1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SYT1 was changed from Other to None
DDG2P v6.370 SUFU Achchuthan Shanmugasundram Mode of pathogenicity for gene: SUFU was changed from Other - please provide details in the comments to None
DDG2P v6.369 STT3A Achchuthan Shanmugasundram Mode of pathogenicity for gene: STT3A was changed from Other to None
DDG2P v6.368 SUPT16H Achchuthan Shanmugasundram Mode of pathogenicity for gene: SUPT16H was changed from Other to None
DDG2P v6.367 ST3GAL3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ST3GAL3 was changed from Other to None
DDG2P v6.367 ST14 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ST14 was changed from Other to None
DDG2P v6.366 SRPX2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SRPX2 was changed from Other to None
DDG2P v6.366 SRP54 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SRP54 was changed from Other to None
DDG2P v6.365 SRCAP Achchuthan Shanmugasundram Mode of pathogenicity for gene: SRCAP was changed from Other - please provide details in the comments to None
DDG2P v6.365 SPTLC2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SPTLC2 was changed from Other to None
DDG2P v6.364 SPRY1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SPRY1 was changed from Other to None
DDG2P v6.363 SPRTN Achchuthan Shanmugasundram Mode of pathogenicity for gene: SPRTN was changed from Other to None
DDG2P v6.362 SPECC1L Achchuthan Shanmugasundram Mode of pathogenicity for gene: SPECC1L was changed from Other to None
DDG2P v6.362 SPAST Achchuthan Shanmugasundram Mode of pathogenicity for gene: SPAST was changed from Other to None
DDG2P v6.361 SPARC Achchuthan Shanmugasundram Mode of pathogenicity for gene: SPARC was changed from Other to None
DDG2P v6.361 SOX4 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SOX4 was changed from Other to None
DDG2P v6.360 SOX17 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SOX17 was changed from Other to None
DDG2P v6.359 SOX11 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SOX11 was changed from Other - please provide details in the comments to None
DDG2P v6.358 SOS2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SOS2 was changed from Other to None
DDG2P v6.357 SNRPE Achchuthan Shanmugasundram Mode of pathogenicity for gene: SNRPE was changed from Other to None
DDG2P v6.356 SNIP1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SNIP1 was changed from Other to None
DDG2P v6.355 SNAP25 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SNAP25 was changed from Other - please provide details in the comments to None
DDG2P v6.355 SMO Achchuthan Shanmugasundram Mode of pathogenicity for gene: SMO was changed from Other - please provide details in the comments to None
DDG2P v6.354 SMCHD1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SMCHD1 was changed from Other to None
DDG2P v6.353 SMC5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SMC5 was changed from Other to None
DDG2P v6.353 SMC3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SMC3 was changed from Other to None
DDG2P v6.352 SMARCE1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SMARCE1 was changed from Other to None
DDG2P v6.352 SMARCD1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SMARCD1 was changed from Other to None
DDG2P v6.351 SMARCA2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SMARCA2 was changed from Other to None
DDG2P v6.351 SLF2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLF2 was changed from Other to None
DDG2P v6.350 SLC9A7 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC9A7 was changed from Other to None
DDG2P v6.349 SLC5A7 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC5A7 was changed from Other to None
DDG2P v6.349 SLC4A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC4A1 was changed from Other to None
DDG2P v6.348 SLC6A17 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC6A17 was changed from Other to None
DDG2P v6.347 SLC45A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC45A1 was changed from Other to None
DDG2P v6.346 SLC39A8 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC39A8 was changed from Other to None
DDG2P v6.346 SLC35B2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC35B2 was changed from Other to None
DDG2P v6.345 SLC32A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC32A1 was changed from Other to None
DDG2P v6.345 SLC31A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC31A1 was changed from Other to None
DDG2P v6.344 SLC30A7 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC30A7 was changed from Other to None
DDG2P v6.343 SLC25A4 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC25A4 was changed from Other to None
DDG2P v6.343 SLC25A24 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC25A24 was changed from Other to None
DDG2P v6.342 SLC25A22 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC25A22 was changed from Other to None
DDG2P v6.342 SLC25A19 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC25A19 was changed from Other to None
DDG2P v6.341 SLC1A2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC1A2 was changed from Other to None
DDG2P v6.340 SLC12A9 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC12A9 was changed from Other to None
DDG2P v6.340 SLC12A5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC12A5 was changed from Other to None
DDG2P v6.339 SKI Achchuthan Shanmugasundram Mode of pathogenicity for gene: SKI was changed from Other to None
DDG2P v6.338 SIX5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SIX5 was changed from None to None
DDG2P v6.337 SIX6 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SIX6 was changed from Other to None
DDG2P v6.337 SIX5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SIX5 was changed from Other to None
DDG2P v6.337 SIAH1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SIAH1 was changed from Other to None
DDG2P v6.336 SHMT2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SHMT2 was changed from Other to None
DDG2P v6.336 SEMA6B Achchuthan Shanmugasundram Mode of pathogenicity for gene: SEMA6B was changed from Other to None
DDG2P v6.335 SEC61A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SEC61A1 was changed from Other to None
DDG2P v6.335 SEC23A Achchuthan Shanmugasundram Mode of pathogenicity for gene: SEC23A was changed from Other to None
DDG2P v6.334 SDHAF1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SDHAF1 was changed from Other to None
DDG2P v6.333 SDHA Achchuthan Shanmugasundram Mode of pathogenicity for gene: SDHA was changed from Other to None
DDG2P v6.332 SCN4A Achchuthan Shanmugasundram Mode of pathogenicity for gene: SCN4A was changed from Other to None
DDG2P v6.331 SCN3A Achchuthan Shanmugasundram Mode of pathogenicity for gene: SCN3A was changed from Other to None
DDG2P v6.330 SC5D Achchuthan Shanmugasundram Mode of pathogenicity for gene: SC5D was changed from Other to None
DDG2P v6.330 SASS6 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SASS6 was changed from Other to None
DDG2P v6.329 SARS2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: SARS2 was changed from Other to None
DDG2P v6.328 SARS Achchuthan Shanmugasundram Mode of pathogenicity for gene: SARS was changed from Other to None
DDG2P v6.327 SAMD9L Achchuthan Shanmugasundram Mode of pathogenicity for gene: SAMD9L was changed from Other to None
DDG2P v6.327 RYR2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: RYR2 was changed from Other to None
DDG2P v6.326 RUBCN Achchuthan Shanmugasundram Mode of pathogenicity for gene: RUBCN was changed from Other to None
DDG2P v6.326 RTTN Achchuthan Shanmugasundram Mode of pathogenicity for gene: RTTN was changed from Other to None
DDG2P v6.325 RRM1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: RRM1 was changed from Other to None
DDG2P v6.325 RPS23 Achchuthan Shanmugasundram Mode of pathogenicity for gene: RPS23 was changed from Other to None
DDG2P v6.324 RPL13 Achchuthan Shanmugasundram Mode of pathogenicity for gene: RPL13 was changed from Other to None
DDG2P v6.324 RPL10 Achchuthan Shanmugasundram Mode of pathogenicity for gene: RPL10 was changed from Other to None
DDG2P v6.323 RNU4ATAC Achchuthan Shanmugasundram Mode of pathogenicity for gene: RNU4ATAC was changed from Other to None
DDG2P v6.323 RNU4-2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: RNU4-2 was changed from Other to None
DDG2P v6.322 RNU12 Achchuthan Shanmugasundram Mode of pathogenicity for gene: RNU12 was changed from Other to None
DDG2P v6.321 RNF125 Achchuthan Shanmugasundram Mode of pathogenicity for gene: RNF125 was changed from Other to None
DDG2P v6.321 RMND1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: RMND1 was changed from Other to None
DDG2P v6.320 RLIM Achchuthan Shanmugasundram Mode of pathogenicity for gene: RLIM was changed from Other to None
DDG2P v6.320 DDX58 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DDX58 was changed from Other to None
DDG2P v6.319 RHOBTB2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: RHOBTB2 was changed from Other to None
DDG2P v6.319 REST Achchuthan Shanmugasundram Mode of pathogenicity for gene: REST was changed from Other to None
DDG2P v6.318 RBPJ Achchuthan Shanmugasundram Mode of pathogenicity for gene: RBPJ was changed from Other to None
DDG2P v6.318 RBM28 Achchuthan Shanmugasundram Mode of pathogenicity for gene: RBM28 was changed from Other to None
DDG2P v6.317 RAP1B Achchuthan Shanmugasundram Mode of pathogenicity for gene: RAP1B was changed from Other to None
DDG2P v6.317 RANBP2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: RANBP2 was changed from Other to None
DDG2P v6.316 RALGDS Achchuthan Shanmugasundram Mode of pathogenicity for gene: RALGDS was changed from Other to None
DDG2P v6.316 RALA Achchuthan Shanmugasundram Mode of pathogenicity for gene: RALA was changed from Other to None
DDG2P v6.316 RAD51C Achchuthan Shanmugasundram Mode of pathogenicity for gene: RAD51C was changed from Other to None
DDG2P v6.315 RAC3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: RAC3 was changed from Other to None
DDG2P v6.315 RAC1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: RAC1 was changed from Other to None
DDG2P v6.314 RABL6 Achchuthan Shanmugasundram Mode of pathogenicity for gene: RABL6 was changed from Other to None
DDG2P v6.314 RAB34 Achchuthan Shanmugasundram Mode of pathogenicity for gene: RAB34 was changed from Other to None
DDG2P v6.313 RAB14 Achchuthan Shanmugasundram Mode of pathogenicity for gene: RAB14 was changed from Other to None
DDG2P v6.312 RAB11B Achchuthan Shanmugasundram Mode of pathogenicity for gene: RAB11B was changed from Other to None
DDG2P v6.311 RAB11A Achchuthan Shanmugasundram Mode of pathogenicity for gene: RAB11A was changed from Other to None
DDG2P v6.311 QARS Achchuthan Shanmugasundram Mode of pathogenicity for gene: QARS was changed from Other to None
DDG2P v6.310 PYCR2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PYCR2 was changed from Other to None
DDG2P v6.310 PTPN11 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PTPN11 was changed from Other to None
DDG2P v6.309 PTDSS1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PTDSS1 was changed from Other to None
DDG2P v6.308 PSMC5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PSMC5 was changed from Other to None
DDG2P v6.308 PSMC3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PSMC3 was changed from Other to None
DDG2P v6.307 PSMC1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PSMC1 was changed from Other to None
DDG2P v6.307 PSMB8 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PSMB8 was changed from Other to None
DDG2P v6.306 PRRX1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PRRX1 was changed from Other to None
DDG2P v6.305 PRMT9 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PRMT9 was changed from Other to None
DDG2P v6.305 PRKD1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PRKD1 was changed from Other to None
DDG2P v6.304 PRKAR1B Achchuthan Shanmugasundram Mode of pathogenicity for gene: PRKAR1B was changed from Other to None
DDG2P v6.304 PRKACB Achchuthan Shanmugasundram Mode of pathogenicity for gene: PRKACB was changed from Other to None
DDG2P v6.303 PRKACA Achchuthan Shanmugasundram Mode of pathogenicity for gene: PRKACA was changed from Other to None
DDG2P v6.303 PRDM6 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PRDM6 was changed from Other to None
DDG2P v6.302 PRDM15 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PRDM15 was changed from Other to None
DDG2P v6.301 PPP3CA Achchuthan Shanmugasundram Mode of pathogenicity for gene: PPP3CA was changed from Other to None
DDG2P v6.301 PPP1CB Achchuthan Shanmugasundram Mode of pathogenicity for gene: PPP1CB was changed from Other to None
DDG2P v6.300 PPFIA3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PPFIA3 was changed from Other to None
DDG2P v6.299 PPA2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PPA2 was changed from Other to None
DDG2P v6.299 POU3F3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: POU3F3 was changed from Other to None
DDG2P v6.298 POT1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: POT1 was changed from Other to None
DDG2P v6.298 POMP Achchuthan Shanmugasundram Mode of pathogenicity for gene: POMP was changed from Other to None
DDG2P v6.297 POLR2A Achchuthan Shanmugasundram Mode of pathogenicity for gene: POLR2A was changed from Other to None
DDG2P v6.295 POLG Achchuthan Shanmugasundram Mode of pathogenicity for gene: POLG was changed from Other to None
DDG2P v6.294 POLD1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: POLD1 was changed from Other to None
DDG2P v6.293 PNPLA1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PNPLA1 was changed from Other to None
DDG2P v6.292 PMPCB Achchuthan Shanmugasundram Mode of pathogenicity for gene: PMPCB was changed from Other to None
DDG2P v6.291 PLXND1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PLXND1 was changed from Other - please provide details in the comments to None
DDG2P v6.291 PLCH1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PLCH1 was changed from Other to None
DDG2P v6.290 PLCB4 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PLCB4 was changed from Other to None
DDG2P v6.290 PIP5K1C Achchuthan Shanmugasundram Mode of pathogenicity for gene: PIP5K1C was changed from Other to None
DDG2P v6.289 PIGY Achchuthan Shanmugasundram Mode of pathogenicity for gene: PIGY was changed from Other to None
DDG2P v6.288 PIGW Achchuthan Shanmugasundram Mode of pathogenicity for gene: PIGW was changed from Other to None
DDG2P v6.288 PIGV Achchuthan Shanmugasundram Mode of pathogenicity for gene: PIGV was changed from Other to None
DDG2P v6.287 PIGU Achchuthan Shanmugasundram Mode of pathogenicity for gene: PIGU was changed from Other to None
DDG2P v6.287 PIGT Achchuthan Shanmugasundram Mode of pathogenicity for gene: PIGT was changed from Other to None
DDG2P v6.286 PIGN Achchuthan Shanmugasundram Mode of pathogenicity for gene: PIGN was changed from Other to None
DDG2P v6.286 PIGM Achchuthan Shanmugasundram Mode of pathogenicity for gene: PIGM was changed from Other to None
DDG2P v6.285 PHF5A Achchuthan Shanmugasundram Mode of pathogenicity for gene: PHF5A was changed from Other to None
DDG2P v6.285 PHC1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PHC1 was changed from Other to None
DDG2P v6.284 PGAP2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PGAP2 was changed from Other to None
DDG2P v6.284 PECR Achchuthan Shanmugasundram Mode of pathogenicity for gene: PECR was changed from Other to None
DDG2P v6.283 PDSS1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PDSS1 was changed from Other to None
DDG2P v6.282 PDE10A Achchuthan Shanmugasundram Mode of pathogenicity for gene: PDE10A was changed from Other to None
DDG2P v6.282 PARP1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PARP1 was changed from Other to None
DDG2P v6.281 PACS2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PACS2 was changed from Other to None
DDG2P v6.281 PABPC1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: PABPC1 was changed from Other to None
DDG2P v6.280 P4HB Achchuthan Shanmugasundram Mode of pathogenicity for gene: P4HB was changed from Other to None
DDG2P v6.279 OTUD5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: OTUD5 was changed from Other to None
DDG2P v6.279 OSGEP Achchuthan Shanmugasundram Mode of pathogenicity for gene: OSGEP was changed from Other to None
DDG2P v6.278 OGDH Achchuthan Shanmugasundram Mode of pathogenicity for gene: OGDH was changed from Other to None
DDG2P v6.278 NUP62 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NUP62 was changed from Other to None
DDG2P v6.277 NUP54 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NUP54 was changed from Other to None
DDG2P v6.276 NTRK2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NTRK2 was changed from Other to None
DDG2P v6.275 NSUN2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NSUN2 was changed from Other to None
DDG2P v6.275 NSMCE3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NSMCE3 was changed from Other to None
DDG2P v6.274 NR1I3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NR1I3 was changed from Other to None
DDG2P v6.274 NPM1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NPM1 was changed from Other to None
DDG2P v6.273 NOVA2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NOVA2 was changed from Other to None
DDG2P v6.272 NOP10 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NOP10 was changed from Other to None
DDG2P v6.272 NKAP Achchuthan Shanmugasundram Mode of pathogenicity for gene: NKAP was changed from Other to None
DDG2P v6.271 NHP2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NHP2 was changed from Other to None
DDG2P v6.271 NFU1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NFU1 was changed from Other to None
DDG2P v6.270 NEDD4L Achchuthan Shanmugasundram Mode of pathogenicity for gene: NEDD4L was changed from Other to None
DDG2P v6.269 NDUFV2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NDUFV2 was changed from Other to None
DDG2P v6.268 NDUFV1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NDUFV1 was changed from Other to None
DDG2P v6.268 NDUFS8 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NDUFS8 was changed from Other to None
DDG2P v6.267 NDUFA9 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NDUFA9 was changed from Other to None
DDG2P v6.266 NDUFA10 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NDUFA10 was changed from Other to None
DDG2P v6.265 NDST1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NDST1 was changed from Other to None
DDG2P v6.264 NCDN Achchuthan Shanmugasundram Mode of pathogenicity for gene: NCDN was changed from Other to None
DDG2P v6.263 NCAPG2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NCAPG2 was changed from Other to None
DDG2P v6.262 NAE1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NAE1 was changed from Other to None
DDG2P v6.261 NAA20 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NAA20 was changed from Other to None
DDG2P v6.260 MYLPF Achchuthan Shanmugasundram Mode of pathogenicity for gene: MYLPF was changed from Other to None
DDG2P v6.260 MYH9 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MYH9 was changed from Other to None
DDG2P v6.259 MYH6 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MYH6 was changed from Other - please provide details in the comments to None
DDG2P v6.259 MYH3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MYH3 was changed from Other - please provide details in the comments to None
DDG2P v6.258 MTSS1L Achchuthan Shanmugasundram Mode of pathogenicity for gene: MTSS1L was changed from Other to None
DDG2P v6.257 MTOR Achchuthan Shanmugasundram Mode of pathogenicity for gene: MTOR was changed from Other to None
DDG2P v6.257 MT-TL1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MT-TL1 was changed from Other to None
DDG2P v6.256 MSI1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MSI1 was changed from Other to None
DDG2P v6.255 MRPS22 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MRPS22 was changed from Other to None
DDG2P v6.254 MRPS2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MRPS2 was changed from Other to None
DDG2P v6.253 MPZ Achchuthan Shanmugasundram Mode of pathogenicity for gene: MPZ was changed from Other to None
DDG2P v6.253 MPC2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MPC2 was changed from Other to None
DDG2P v6.252 MORC2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MORC2 was changed from Other to None
DDG2P v6.252 MOGS Achchuthan Shanmugasundram Mode of pathogenicity for gene: MOGS was changed from Other to None
DDG2P v6.251 MMP14 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MMP14 was changed from Other to None
DDG2P v6.250 MMP13 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MMP13 was changed from Other to None
DDG2P v6.250 MMGT1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MMGT1 was changed from Other to None
DDG2P v6.249 MFSD2A Achchuthan Shanmugasundram Mode of pathogenicity for gene: MFSD2A was changed from Other to None
DDG2P v6.249 MFN2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MFN2 was changed from Other to None
DDG2P v6.248 MED25 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MED25 was changed from Other to None
DDG2P v6.247 MED23 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MED23 was changed from Other to None
DDG2P v6.247 MED17 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MED17 was changed from Other to None
DDG2P v6.246 MED12 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MED12 was changed from Other - please provide details in the comments to None
DDG2P v6.246 MED11 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MED11 was changed from Other to None
DDG2P v6.245 MAP3K7 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MAP3K7 was changed from Other to None
DDG2P v6.244 MATN3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MATN3 was changed from Other to None
DDG2P v6.243 MAST1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MAST1 was changed from Other to None
DDG2P v6.243 MAPRE2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MAPRE2 was changed from Other to None
DDG2P v6.242 MAP4K4 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MAP4K4 was changed from Other to None
DDG2P v6.241 MAN2A2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MAN2A2 was changed from Other to None
DDG2P v6.240 MAN1B1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MAN1B1 was changed from Other to None
DDG2P v6.240 MAF Achchuthan Shanmugasundram Mode of pathogenicity for gene: MAF was changed from Other to None
DDG2P v6.239 MACF1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: MACF1 was changed from Other to None
DDG2P v6.239 LZTR1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: LZTR1 was changed from Other to None
DDG2P v6.238 LSM11 Achchuthan Shanmugasundram Mode of pathogenicity for gene: LSM11 was changed from Other to None
DDG2P v6.238 LONP1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: LONP1 was changed from Other - please provide details in the comments to None
DDG2P v6.237 LMNB2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: LMNB2 was changed from Other to None
DDG2P v6.236 LMNB1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: LMNB1 was changed from Other to None
DDG2P v6.236 LMBRD2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: LMBRD2 was changed from Other to None
DDG2P v6.235 LIPT2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: LIPT2 was changed from Other to None
DDG2P v6.235 LIPT1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: LIPT1 was changed from Other to None
DDG2P v6.234 LIAS Achchuthan Shanmugasundram Mode of pathogenicity for gene: LIAS was changed from Other to None
DDG2P v6.234 LFNG Achchuthan Shanmugasundram Mode of pathogenicity for gene: LFNG was changed from Other to None
DDG2P v6.233 LETM1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: LETM1 was changed from Other to None
DDG2P v6.232 LEMD2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: LEMD2 was changed from Other to None
DDG2P v6.232 LDB3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: LDB3 was changed from Other to None
DDG2P v6.231 LAS1L Achchuthan Shanmugasundram Mode of pathogenicity for gene: LAS1L was changed from Other to None
DDG2P v6.231 LARS2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: LARS2 was changed from Other to None
DDG2P v6.230 LAGE3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: LAGE3 was changed from Other to None
DDG2P v6.229 KRT74 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KRT74 was changed from Other to None
DDG2P v6.229 KPNA7 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KPNA7 was changed from Other to None
DDG2P v6.228 KLHL7 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KLHL7 was changed from Other - please provide details in the comments to None
DDG2P v6.227 KLHL20 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KLHL20 was changed from Other to None
DDG2P v6.227 KLF7 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KLF7 was changed from Other to None
DDG2P v6.226 KIRREL3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KIRREL3 was changed from Other to None
DDG2P v6.226 KIF5C Achchuthan Shanmugasundram Mode of pathogenicity for gene: KIF5C was changed from Other to None
DDG2P v6.225 KIF5B Achchuthan Shanmugasundram Mode of pathogenicity for gene: KIF5B was changed from Other to None
DDG2P v6.225 KIF3B Achchuthan Shanmugasundram Mode of pathogenicity for gene: KIF3B was changed from Other to None
DDG2P v6.224 KDM5A Achchuthan Shanmugasundram Mode of pathogenicity for gene: KDM5A was changed from Other to None
DDG2P v6.223 KDM1A Achchuthan Shanmugasundram Mode of pathogenicity for gene: KDM1A was changed from Other to None
DDG2P v6.222 KCNT1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNT1 was changed from Other to None
DDG2P v6.222 KCNQ3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNQ3 was changed from Other to None
DDG2P v6.221 KCNMA1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNMA1 was changed from Other - please provide details in the comments to None
DDG2P v6.221 KCNK3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNK3 was changed from Other to None
DDG2P v6.220 KCNJ6 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNJ6 was changed from Other to None
DDG2P v6.219 KCNH5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNH5 was changed from Other - please provide details in the comments to None
DDG2P v6.218 KCNE1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNE1 was changed from Other to None
DDG2P v6.218 KCND2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCND2 was changed from Other to None
DDG2P v6.217 KCNC3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNC3 was changed from Other to None
DDG2P v6.217 KCNB1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNB1 was changed from Other to None
DDG2P v6.216 KCNA4 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNA4 was changed from Other to None
DDG2P v6.216 KCNA1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNA1 was changed from Other to None
DDG2P v6.215 KBTBD13 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KBTBD13 was changed from Other to None
DDG2P v6.214 KAT5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KAT5 was changed from Other to None
DDG2P v6.213 IRX5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: IRX5 was changed from Other to None
DDG2P v6.213 IQSEC2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: IQSEC2 was changed from Other - please provide details in the comments to None
DDG2P v6.212 IQSEC1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: IQSEC1 was changed from Other to None
DDG2P v6.212 INTS11 Achchuthan Shanmugasundram Mode of pathogenicity for gene: INTS11 was changed from Other to None
DDG2P v6.211 IGBP1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: IGBP1 was changed from Other to None
DDG2P v6.210 INPP5K Achchuthan Shanmugasundram Mode of pathogenicity for gene: INPP5K was changed from Other to None
DDG2P v6.209 IL11 Achchuthan Shanmugasundram Mode of pathogenicity for gene: IL11 was changed from Other to None
DDG2P v6.209 IHH Achchuthan Shanmugasundram Mode of pathogenicity for gene: IHH was changed from Other to None
DDG2P v6.208 IFT80 Achchuthan Shanmugasundram Mode of pathogenicity for gene: IFT80 was changed from Other to None
DDG2P v6.207 IFT43 Achchuthan Shanmugasundram Mode of pathogenicity for gene: IFT43 was changed from Other to None
DDG2P v6.206 IFT122 Achchuthan Shanmugasundram Mode of pathogenicity for gene: IFT122 was changed from Other to None
DDG2P v6.206 IFITM5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: IFITM5 was changed from Other to None
DDG2P v6.205 IFIH1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: IFIH1 was changed from Other to None
DDG2P v6.204 IER3IP1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: IER3IP1 was changed from Other to None
DDG2P v6.203 HYLS1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: HYLS1 was changed from Other to None
DDG2P v6.202 HUWE1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: HUWE1 was changed from Other to None
DDG2P v6.202 HSF4 Achchuthan Shanmugasundram Mode of pathogenicity for gene: HSF4 was changed from Other to None
DDG2P v6.201 HOXD13 Achchuthan Shanmugasundram Mode of pathogenicity for gene: HOXD13 was changed from Other to None
DDG2P v6.200 HOXB1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: HOXB1 was changed from Other to None
DDG2P v6.199 HNRNPH2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: HNRNPH2 was changed from Other to None
DDG2P v6.199 HMGCS2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: HMGCS2 was changed from Other to None
DDG2P v6.198 HMGCR Achchuthan Shanmugasundram Mode of pathogenicity for gene: HMGCR was changed from Other to None
DDG2P v6.197 HECW2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: HECW2 was changed from Other to None
DDG2P v6.196 HECTD4 Achchuthan Shanmugasundram Mode of pathogenicity for gene: HECTD4 was changed from Other to None
DDG2P v6.195 HDAC3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: HDAC3 was changed from Other to None
DDG2P v6.194 HCN1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: HCN1 was changed from Other to None
DDG2P v6.194 HARS Achchuthan Shanmugasundram Mode of pathogenicity for gene: HARS was changed from Other to None
DDG2P v6.193 HIST1H4C Achchuthan Shanmugasundram Mode of pathogenicity for gene: HIST1H4C was changed from Other to None
DDG2P v6.192 HIST1H4J Achchuthan Shanmugasundram Mode of pathogenicity for gene: HIST1H4J was changed from Other to None
DDG2P v6.191 HIST3H3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: HIST3H3 was changed from Other to None
DDG2P v6.190 H3F3B Achchuthan Shanmugasundram Mode of pathogenicity for gene: H3F3B was changed from Other to None
DDG2P v6.189 H3F3A Achchuthan Shanmugasundram Mode of pathogenicity for gene: H3F3A was changed from Other to None
DDG2P v6.189 GTF2IRD1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GTF2IRD1 was changed from Other to None
DDG2P v6.188 GTF2E2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GTF2E2 was changed from Other to None
DDG2P v6.188 GRIN1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GRIN1 was changed from Other - please provide details in the comments to None
DDG2P v6.187 GRIA4 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GRIA4 was changed from Other to None
DDG2P v6.186 GRHL2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GRHL2 was changed from Other to None
DDG2P v6.186 GOT2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GOT2 was changed from Other to None
DDG2P v6.185 GNE Achchuthan Shanmugasundram Mode of pathogenicity for gene: GNE was changed from Other to None
DDG2P v6.185 GNB2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GNB2 was changed from Other to None
DDG2P v6.184 GNAI3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GNAI3 was changed from Other to None
DDG2P v6.183 GNAI1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GNAI1 was changed from Other to None
DDG2P v6.183 GMPPB Achchuthan Shanmugasundram Mode of pathogenicity for gene: GMPPB was changed from Other - please provide details in the comments to None
DDG2P v6.182 GLUL Achchuthan Shanmugasundram Mode of pathogenicity for gene: GLUL was changed from Other to None
DDG2P v6.182 GLE1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GLE1 was changed from Other to None
DDG2P v6.181 GJA8 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GJA8 was changed from Other to None
DDG2P v6.180 GJC2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GJC2 was changed from Other to None
DDG2P v6.179 GJA3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GJA3 was changed from Other to None
DDG2P v6.179 GEMIN4 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GEMIN4 was changed from Other to None
DDG2P v6.178 GDF6 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GDF6 was changed from Other to None
DDG2P v6.178 GDF5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GDF5 was changed from Other - please provide details in the comments to None
DDG2P v6.177 GDF3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GDF3 was changed from Other to None
DDG2P v6.176 GCH1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GCH1 was changed from Other to None
DDG2P v6.175 GCDH Achchuthan Shanmugasundram Mode of pathogenicity for gene: GCDH was changed from Other to None
DDG2P v6.174 GAD1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GAD1 was changed from Other to None
DDG2P v6.173 GABRG1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GABRG1 was changed from Other to None
DDG2P v6.172 GABRB3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GABRB3 was changed from Other to None
DDG2P v6.172 GABRB2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GABRB2 was changed from Other to None
DDG2P v6.171 GABRA2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GABRA2 was changed from Other to None
DDG2P v6.171 GABBR2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GABBR2 was changed from Other to None
DDG2P v6.170 GABBR1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: GABBR1 was changed from Other to None
DDG2P v6.169 FZR1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: FZR1 was changed from Other to None
DDG2P v6.169 FXN Achchuthan Shanmugasundram Mode of pathogenicity for gene: FXN was changed from Other to None
DDG2P v6.168 FTO Achchuthan Shanmugasundram Mode of pathogenicity for gene: FTO was changed from Other to None
DDG2P v6.168 FRMD5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: FRMD5 was changed from Other to None
DDG2P v6.167 FOXP4 Achchuthan Shanmugasundram Mode of pathogenicity for gene: FOXP4 was changed from Other to None
DDG2P v6.166 FOXI3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: FOXI3 was changed from Other to None
DDG2P v6.166 FOXE1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: FOXE1 was changed from Other to None
DDG2P v6.165 FOSL2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: FOSL2 was changed from Other to None
DDG2P v6.165 FN1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: FN1 was changed from Other to None
DDG2P v6.164 FLVCR1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: FLVCR1 was changed from Other to None
DDG2P v6.164 FLT4 Achchuthan Shanmugasundram Mode of pathogenicity for gene: FLT4 was changed from Other - please provide details in the comments to None
DDG2P v6.163 FICD Achchuthan Shanmugasundram Mode of pathogenicity for gene: FICD was changed from Other to None
DDG2P v6.163 FGFR3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: FGFR3 was changed from Other to None
DDG2P v6.163 FGFR2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: FGFR2 was changed from Other to None
DDG2P v6.162 FDXR Achchuthan Shanmugasundram Mode of pathogenicity for gene: FDXR was changed from Other to None
DDG2P v6.162 FUK Achchuthan Shanmugasundram Mode of pathogenicity for gene: FUK was changed from Other to None
DDG2P v6.162 FBXW7 Achchuthan Shanmugasundram Mode of pathogenicity for gene: FBXW7 was changed from Other to None
DDG2P v6.161 FBXW4 Achchuthan Shanmugasundram Mode of pathogenicity for gene: FBXW4 was changed from Other to None
DDG2P v6.161 FBXW11 Achchuthan Shanmugasundram Mode of pathogenicity for gene: FBXW11 was changed from Other to None
DDG2P v6.160 FBXO28 Achchuthan Shanmugasundram Mode of pathogenicity for gene: FBXO28 was changed from Other to None
DDG2P v6.160 FBLN1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: FBLN1 was changed from Other to None
DDG2P v6.160 FASN Achchuthan Shanmugasundram Mode of pathogenicity for gene: FASN was changed from Other to None
DDG2P v6.159 EZH2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: EZH2 was changed from Other to None
DDG2P v6.159 EXTL3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: EXTL3 was changed from Other to None
DDG2P v6.158 EXOSC3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: EXOSC3 was changed from Other - please provide details in the comments to None
DDG2P v6.158 ERLIN2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ERLIN2 was changed from Other to None
DDG2P v6.157 ERI1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ERI1 was changed from Other to None
DDG2P v6.157 ERBB3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ERBB3 was changed from Other to None
DDG2P v6.156 EPB41L3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: EPB41L3 was changed from Other to None
DDG2P v6.156 EPB41L1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: EPB41L1 was changed from Other to None
DDG2P v6.155 ENTPD1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ENTPD1 was changed from Other to None
DDG2P v6.155 EMG1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: EMG1 was changed from Other to None
DDG2P v6.154 ELP2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ELP2 was changed from Other to None
DDG2P v6.154 EIF4A3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: EIF4A3 was changed from Other to None
DDG2P v6.153 EIF4A2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: EIF4A2 was changed from Other to None
DDG2P v6.153 EIF2AK2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: EIF2AK2 was changed from Other to None
DDG2P v6.152 EIF2AK1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: EIF2AK1 was changed from Other to None
DDG2P v6.152 EED Achchuthan Shanmugasundram Mode of pathogenicity for gene: EED was changed from Other to None
DDG2P v6.151 WDR34 Achchuthan Shanmugasundram Mode of pathogenicity for gene: WDR34 was changed from Other to None
DDG2P v6.151 DYNC1H1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DYNC1H1 was changed from Other to None
DDG2P v6.150 DSP Achchuthan Shanmugasundram Mode of pathogenicity for gene: DSP was changed from Other to None
DDG2P v6.150 DSE Achchuthan Shanmugasundram Mode of pathogenicity for gene: DSE was changed from Other to None
DDG2P v6.149 DPYSL5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DPYSL5 was changed from Other to None
DDG2P v6.148 DOLK Achchuthan Shanmugasundram Mode of pathogenicity for gene: DOLK was changed from Other to None
DDG2P v6.148 DNM1L Achchuthan Shanmugasundram Mode of pathogenicity for gene: DNM1L was changed from Other to None
DDG2P v6.147 DNM1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DNM1 was changed from Other - please provide details in the comments to None
DDG2P v6.146 DNAAF5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DNAAF5 was changed from Other to None
DDG2P v6.146 DLX5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DLX5 was changed from Other to None
DDG2P v6.145 DLG2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DLG2 was changed from Other to None
DDG2P v6.145 DIP2C Achchuthan Shanmugasundram Mode of pathogenicity for gene: DIP2C was changed from Other to None
DDG2P v6.144 DIP2B Achchuthan Shanmugasundram Mode of pathogenicity for gene: DIP2B was changed from Other to None
DDG2P v6.144 DHX37 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DHX37 was changed from Other to None
DDG2P v6.143 DHX34 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DHX34 was changed from Other to None
DDG2P v6.143 DHX30 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DHX30 was changed from Other to None
DDG2P v6.142 DHX16 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DHX16 was changed from Other to None
DDG2P v6.141 DHRS3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DHRS3 was changed from Other to None
DDG2P v6.140 DHPS Achchuthan Shanmugasundram Mode of pathogenicity for gene: DHPS was changed from Other to None
DDG2P v6.140 DHFR Achchuthan Shanmugasundram Mode of pathogenicity for gene: DHFR was changed from Other to None
DDG2P v6.139 DHDDS Achchuthan Shanmugasundram Mode of pathogenicity for gene: DHDDS was changed from Other to None
DDG2P v6.138 DENND5B Achchuthan Shanmugasundram Mode of pathogenicity for gene: DENND5B was changed from Other to None
DDG2P v6.137 DEAF1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DEAF1 was changed from Other - please provide details in the comments to None
DDG2P v6.136 DDX6 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DDX6 was changed from Other to None
DDG2P v6.135 DDX59 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DDX59 was changed from Other to None
DDG2P v6.134 DDX54 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DDX54 was changed from Other to None
DDG2P v6.134 DDX23 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DDX23 was changed from Other to None
DDG2P v6.133 DDR2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DDR2 was changed from Other to None
DDG2P v6.132 DDB1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DDB1 was changed from Other to None
DDG2P v6.131 DARS Achchuthan Shanmugasundram Mode of pathogenicity for gene: DARS was changed from Other to None
DDG2P v6.131 DAG1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DAG1 was changed from Other to None
DDG2P v6.130 DACT1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: DACT1 was changed from Other to None
DDG2P v6.129 CYP1B1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CYP1B1 was changed from Other to None
DDG2P v6.128 CYFIP2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CYFIP2 was changed from Other to None
DDG2P v6.127 CYC1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CYC1 was changed from Other to None
DDG2P v6.126 CUX2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CUX2 was changed from Other to None
DDG2P v6.126 CSNK1G1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CSNK1G1 was changed from Other to None
DDG2P v6.125 CRYBB3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CRYBB3 was changed from Other to None
DDG2P v6.124 CRLS1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CRLS1 was changed from Other to None
DDG2P v6.123 CRKL Achchuthan Shanmugasundram Mode of pathogenicity for gene: CRKL was changed from Other to None
DDG2P v6.122 CRELD1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CRELD1 was changed from Other to None
DDG2P v6.121 CRADD Achchuthan Shanmugasundram Mode of pathogenicity for gene: CRADD was changed from Other to None
DDG2P v6.120 CPSF3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CPSF3 was changed from Other to None
DDG2P v6.120 COX18 Achchuthan Shanmugasundram Mode of pathogenicity for gene: COX18 was changed from Other to None
DDG2P v6.119 COX10 Achchuthan Shanmugasundram Mode of pathogenicity for gene: COX10 was changed from Other to None
DDG2P v6.118 COQ5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: COQ5 was changed from Other to None
DDG2P v6.117 COPB1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: COPB1 was changed from Other to None
DDG2P v6.117 COL6A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: COL6A1 was changed from Other to None
DDG2P v6.116 COL1A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: COL1A1 was changed from Other to None
DDG2P v6.115 COL11A2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: COL11A2 was changed from Other to None
DDG2P v6.114 CNOT9 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CNOT9 was changed from Other to None
DDG2P v6.113 CNOT2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CNOT2 was changed from Other to None
DDG2P v6.112 CNOT1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CNOT1 was changed from Other to None
DDG2P v6.111 CLPP Achchuthan Shanmugasundram Mode of pathogenicity for gene: CLPP was changed from Other to None
DDG2P v6.110 CLP1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CLP1 was changed from Other to None
DDG2P v6.109 CLIC2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CLIC2 was changed from Other to None
DDG2P v6.108 CLDN5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CLDN5 was changed from Other to None
DDG2P v6.107 CLDN19 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CLDN19 was changed from Other to None
DDG2P v6.106 CLCN6 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CLCN6 was changed from Other to None
DDG2P v6.105 CLCN4 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CLCN4 was changed from Other to None
DDG2P v6.104 CIT Achchuthan Shanmugasundram Mode of pathogenicity for gene: CIT was changed from Other to None
DDG2P v6.103 CHRM1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CHRM1 was changed from Other to None
DDG2P v6.102 CHD3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CHD3 was changed from Other to None
DDG2P v6.101 CFL2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CFL2 was changed from Other to None
DDG2P v6.100 CELSR1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CELSR1 was changed from Other to None
DDG2P v6.99 CDON Achchuthan Shanmugasundram Mode of pathogenicity for gene: CDON was changed from Other to None
DDG2P v6.98 CDK8 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CDK8 was changed from Other to None
DDG2P v6.97 CDK19 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CDK19 was changed from Other to None
DDG2P v6.96 CDK13 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CDK13 was changed from Other to None
DDG2P v6.95 CDH2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CDH2 was changed from Other to None
DDG2P v6.94 CDH1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CDH1 was changed from Other to None
DDG2P v6.93 CDC42 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CDC42 was changed from Other to None
DDG2P v6.92 CDC40 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CDC40 was changed from Other to None
DDG2P v6.91 CCDC22 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CCDC22 was changed from Other to None
DDG2P v6.90 CBFB Achchuthan Shanmugasundram Mode of pathogenicity for gene: CBFB was changed from Other to None
DDG2P v6.89 CAPRIN1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CAPRIN1 was changed from Other to None
DDG2P v6.88 CAMK2G Achchuthan Shanmugasundram Mode of pathogenicity for gene: CAMK2G was changed from Other to None
DDG2P v6.87 CACNA2D1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: CACNA2D1 was changed from Other to None
DDG2P v6.86 CACNA1H Achchuthan Shanmugasundram Mode of pathogenicity for gene: CACNA1H was changed from Other to None
DDG2P v6.85 CACNA1A Achchuthan Shanmugasundram Mode of pathogenicity for gene: CACNA1A was changed from Other to None
DDG2P v6.84 C1QBP Achchuthan Shanmugasundram Mode of pathogenicity for gene: C1QBP was changed from Other to None
DDG2P v6.83 C12orf57 Achchuthan Shanmugasundram Mode of pathogenicity for gene: C12orf57 was changed from Other to None
DDG2P v6.82 BSN Achchuthan Shanmugasundram Mode of pathogenicity for gene: BSN was changed from Other to None
DDG2P v6.81 BORCS8 Achchuthan Shanmugasundram Mode of pathogenicity for gene: BORCS8 was changed from Other to None
DDG2P v6.80 KIAA1109 Achchuthan Shanmugasundram Mode of pathogenicity for gene: KIAA1109 was changed from Other to None
DDG2P v6.79 BICD2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: BICD2 was changed from Other to None
DDG2P v6.78 BHLHA9 Achchuthan Shanmugasundram Mode of pathogenicity for gene: BHLHA9 was changed from Other to None
DDG2P v6.77 BFSP2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: BFSP2 was changed from Other to None
DDG2P v6.76 BCORL1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: BCORL1 was changed from Other to None
DDG2P v6.75 BAP1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: BAP1 was changed from Other to None
DDG2P v6.74 BANF1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: BANF1 was changed from Other to None
DDG2P v6.73 B3GAT3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: B3GAT3 was changed from Other to None
DDG2P v6.72 AXIN1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: AXIN1 was changed from Other to None
DDG2P v6.71 ATP8A2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ATP8A2 was changed from Other to None
DDG2P v6.70 ATP6V1E1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ATP6V1E1 was changed from Other to None
DDG2P v6.69 ATP6V1A Achchuthan Shanmugasundram Mode of pathogenicity for gene: ATP6V1A was changed from Other to None
DDG2P v6.68 ATP6V0A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ATP6V0A1 was changed from Other to None
DDG2P v6.67 ATP6AP2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ATP6AP2 was changed from Other to None
DDG2P v6.66 ATP5D Achchuthan Shanmugasundram Mode of pathogenicity for gene: ATP5D was changed from Other to None
DDG2P v6.65 ATP5A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ATP5A1 was changed from Other to None
DDG2P v6.64 ATP1A3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ATP1A3 was changed from Other to None
DDG2P v6.63 ATP1A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ATP1A1 was changed from Other to None
DDG2P v6.62 ATOH7 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ATOH7 was changed from Other to None
DDG2P v6.61 ATN1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ATN1 was changed from Other to None
DDG2P v6.60 ATG4D Achchuthan Shanmugasundram Mode of pathogenicity for gene: ATG4D was changed from Other to None
DDG2P v6.59 ASH1L Achchuthan Shanmugasundram Mode of pathogenicity for gene: ASH1L was changed from Other to None
DDG2P v6.58 ASCL1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ASCL1 was changed from Other to None
DDG2P v6.57 ASCC3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ASCC3 was changed from Other to None
DDG2P v6.56 ARPC4 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ARPC4 was changed from Other to None
DDG2P v6.55 ARL3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ARL3 was changed from Other to None
DDG2P v6.54 ARL14EP Achchuthan Shanmugasundram Mode of pathogenicity for gene: ARL14EP was changed from Other to None
DDG2P v6.53 ARF1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ARF1 was changed from Other to None
DDG2P v6.52 AP2S1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: AP2S1 was changed from Other to None
DDG2P v6.51 AP2M1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: AP2M1 was changed from Other to None
DDG2P v6.50 ANO3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ANO3 was changed from Other to None
DDG2P v6.49 ANKRD26 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ANKRD26 was changed from Other to None
DDG2P v6.48 ANKRD11 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ANKRD11 was changed from None to None
DDG2P v6.47 ANKRD11 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ANKRD11 was changed from Other to None
DDG2P v6.46 ANGPT2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ANGPT2 was changed from Other to None
DDG2P v6.45 ALPL Achchuthan Shanmugasundram Mode of pathogenicity for gene: ALPL was changed from Other to None
DDG2P v6.44 AMOTL1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: AMOTL1 was changed from Other to None
DDG2P v6.43 ALG13 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ALG13 was changed from Other to None
DDG2P v6.42 ALDOA Achchuthan Shanmugasundram Mode of pathogenicity for gene: ALDOA was changed from Other to None
DDG2P v6.41 ALDH1A2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ALDH1A2 was changed from Other to None
DDG2P v6.40 ALAD Achchuthan Shanmugasundram Mode of pathogenicity for gene: ALAD was changed from Other to None
DDG2P v6.39 AKT3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: AKT3 was changed from Other to None
DDG2P v6.38 AKT2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: AKT2 was changed from Other to None
DDG2P v6.37 AIFM1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: AIFM1 was changed from Other to None
DDG2P v6.36 AGPS Achchuthan Shanmugasundram Mode of pathogenicity for gene: AGPS was changed from Other to None
DDG2P v6.35 AGO1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: AGO1 was changed from Other to None
DDG2P v6.34 AFF3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: AFF3 was changed from Other to None
DDG2P v6.33 ADSL Achchuthan Shanmugasundram Mode of pathogenicity for gene: ADSL was changed from Other to None
DDG2P v6.32 ADRA2B Achchuthan Shanmugasundram Mode of pathogenicity for gene: ADRA2B was changed from Other to None
DDG2P v6.31 ADK Achchuthan Shanmugasundram Mode of pathogenicity for gene: ADK was changed from Other to None
DDG2P v6.30 ADCY5 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ADCY5 was changed from Other to None
DDG2P v6.29 ADARB1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ADARB1 was changed from Other to None
DDG2P v6.28 ADAMTS18 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ADAMTS18 was changed from Other - please provide details in the comments to None
DDG2P v6.27 ACVR2B Achchuthan Shanmugasundram Mode of pathogenicity for gene: ACVR2B was changed from Other to None
DDG2P v6.26 ACTC1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ACTC1 was changed from Other to None
DDG2P v6.25 ACTA2 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ACTA2 was changed from Other to None
DDG2P v6.24 ACTA1 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ACTA1 was changed from Other to None
DDG2P v6.23 ACADS Achchuthan Shanmugasundram Mode of pathogenicity for gene: ACADS was changed from Other to None
DDG2P v6.22 ABCB7 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ABCB7 was changed from Other to None
DDG2P v6.21 ABCB6 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ABCB6 was changed from Other to None
DDG2P v6.20 TERT Achchuthan Shanmugasundram Mode of pathogenicity for gene: TERT was changed from Other to None
DDG2P v6.19 COL9A3 Achchuthan Shanmugasundram Mode of pathogenicity for gene: COL9A3 was changed from Other - please provide details in the comments to None
DDG2P v6.18 ABCC9 Achchuthan Shanmugasundram Mode of pathogenicity for gene: ABCC9 was changed from Other to None
DDG2P v6.17 MYOC Achchuthan Shanmugasundram changed review comment from: This gene has now been removed from this panel as this gene no longer exists with a disease association on the DD panel of Gene2Phenotype resource; to: This gene has now been removed from this panel as this gene no longer exists with a disease association on the DD panel of Gene2Phenotype resource.
DDG2P v6.17 C14orf80 Achchuthan Shanmugasundram commented on gene: C14orf80: The 'new-gene-name' tag has been added as the official HGNC gene symbol for C14orf80 is TEDC1.
DDG2P v6.17 RNU2-2P Achchuthan Shanmugasundram commented on gene: RNU2-2P: The 'new-gene-name' tag has been added as the official HGNC gene symbol for RNU2-2P is RNU2-2.
DDG2P v6.17 ZNF599 Achchuthan Shanmugasundram commented on gene: ZNF599: This gene has now been removed from this panel as this gene no longer exists with a disease association on the DD panel of Gene2Phenotype resource
DDG2P v6.17 SLC24A1 Achchuthan Shanmugasundram commented on gene: SLC24A1: This gene has now been removed from this panel as this gene no longer exists with a disease association on the DD panel of Gene2Phenotype resource
DDG2P v6.17 MYOC Achchuthan Shanmugasundram commented on gene: MYOC: This gene has now been removed from this panel as this gene no longer exists with a disease association on the DD panel of Gene2Phenotype resource
DDG2P v6.17 ZNRF3 Achchuthan Shanmugasundram reviewed gene: ZNRF3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 39168120; Phenotypes: MONDO:0100038, ZNRF3-related neurodevelopmental disorder with macrocephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 ZNF335 Achchuthan Shanmugasundram reviewed gene: ZNF335: Rating: GREEN; Mode of pathogenicity: ; Publications: 40583037, 27540107, 29652087, 31187448, 23178126, 38549403, 34982360, 33216650; Phenotypes: OMIM:615095.0, MONDO:0014043, ZNF335-related microcephaly, epilepsy, cerebral and/or cerebellar atrophy and short stature; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 XPO1 Achchuthan Shanmugasundram reviewed gene: XPO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40819229, 36807877; Phenotypes: XPO1-related neurodevelopmental disorder with microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 WIPI2 Achchuthan Shanmugasundram reviewed gene: WIPI2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34557665, 30968111; Phenotypes: MONDO:0032759, WIPI2-related neurodevelopmental disorder with white matter loss and hypoplasia of vermis and corpus callosum, OMIM:618453.0; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 WDR83OS Achchuthan Shanmugasundram reviewed gene: WDR83OS: Rating: GREEN; Mode of pathogenicity: ; Publications: 30250217, 39471804; Phenotypes: WDR83OS-related neurodevelopmental disorder with hypercholanemia, MONDO:0975877; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 WDR44 Achchuthan Shanmugasundram reviewed gene: WDR44: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38191484; Phenotypes: MONDO:0005308, WDR44-related ciliopathy; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v6.17 WBP4 Achchuthan Shanmugasundram reviewed gene: WBP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 37963460; Phenotypes: MONDO:0971043, WBP4-related neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 UNC79 Achchuthan Shanmugasundram reviewed gene: UNC79: Rating: RED; Mode of pathogenicity: ; Publications: 37183800; Phenotypes: UNC79-related intellectual disability with focal motor seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 UNC13A Achchuthan Shanmugasundram reviewed gene: UNC13A: Rating: GREEN; Mode of pathogenicity: ; Publications: 36447687, 41125872, 28192369, 27648472; Phenotypes: UNC13A-related neurodevelopmental disorder with ataxia and tremor or dyskinetic movements, UNC13A-related congenital epileptic encephalopathy and severe neuromuscular disorder, MONDO:0100038; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v6.17 UGGT1 Achchuthan Shanmugasundram reviewed gene: UGGT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40267907; Phenotypes: MONDO:0015286, UGGT1-related congenital disorder of glycosylation with neurodevelopmental impairment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 UBR5 Achchuthan Shanmugasundram reviewed gene: UBR5: Rating: GREEN; Mode of pathogenicity: ; Publications: 39721588; Phenotypes: MONDO:0700092, UBR5-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 TRIM71 Achchuthan Shanmugasundram reviewed gene: TRIM71: Rating: GREEN; Mode of pathogenicity: ; Publications: 38833623; Phenotypes: OMIM:618667.0, TRIM71-related neurodevelopmental disorder with ventriculomegaly and hydrocephalus, MONDO:0032862; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 TRAPPC6B Achchuthan Shanmugasundram reviewed gene: TRAPPC6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 28626029, 40350395, 37713627, 31687267; Phenotypes: MONDO:0060640, OMIM:617862.0, TRAPPC6B-related neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 TONSL Achchuthan Shanmugasundram reviewed gene: TONSL: Rating: GREEN; Mode of pathogenicity: ; Publications: 30773278, 30773277; Phenotypes: TONSL-related sponastrime dysplasia, MONDO:0010068, OMIM:271510.0; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 TMEM184B Achchuthan Shanmugasundram reviewed gene: TMEM184B: Rating: RED; Mode of pathogenicity: ; Publications: 40885185; Phenotypes: TMEM184B-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 TM2D3 Achchuthan Shanmugasundram reviewed gene: TM2D3: Rating: GREEN; Mode of pathogenicity: ; Publications: 40449487; Phenotypes: TM2D3-related neurodevelopmental disorder with microcephaly and congenital malformations, MONDO:0700092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 TIMM22 Achchuthan Shanmugasundram reviewed gene: TIMM22: Rating: RED; Mode of pathogenicity: ; Publications: 30452684; Phenotypes: TIMM22-related combined oxidative phosphorylation deficiency, OMIM:618851.0; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 C14orf80 Achchuthan Shanmugasundram reviewed gene: C14orf80: Rating: GREEN; Mode of pathogenicity: ; Publications: 39979680, 30842647; Phenotypes: TEDC1-related neurodevelopmental disorder with growth impairment, microcephaly, and endocrine abnormalities.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 TAF1C Achchuthan Shanmugasundram reviewed gene: TAF1C: Rating: RED; Mode of pathogenicity: ; Publications: 32779182, 40371665; Phenotypes: TAF1C-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 SREBF2 Achchuthan Shanmugasundram reviewed gene: SREBF2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38847193, 26350204; Phenotypes: SREBF2-related complex dermatological, neurological, and skeletal abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 SPTSSA Achchuthan Shanmugasundram reviewed gene: SPTSSA: Rating: GREEN; Mode of pathogenicity: ; Publications: 36718090; Phenotypes: MONDO:0957308, OMIM:620416.0, SPTSSA-related complex hereditary spastic paraplegia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 SP9 Achchuthan Shanmugasundram reviewed gene: SP9: Rating: GREEN; Mode of pathogenicity: ; Publications: 38288683; Phenotypes: SP9-related neurodevelopmental disorder with or without epileptic encephalopathy, MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 SNUPN Achchuthan Shanmugasundram reviewed gene: SNUPN: Rating: GREEN; Mode of pathogenicity: ; Publications: 38413582, 38366623; Phenotypes: SNUPN-related muscular dystrophy with or without multi-system involvement, MONDO:0971171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 SLIT3 Achchuthan Shanmugasundram reviewed gene: SLIT3: Rating: RED; Mode of pathogenicity: ; Publications: 29100090, 33933663; Phenotypes: SLIT3-related congenital anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 SLC39A14 Achchuthan Shanmugasundram reviewed gene: SLC39A14: Rating: GREEN; Mode of pathogenicity: ; Publications: 36138644, 27231142, 36247901; Phenotypes: MONDO:0014864, SLC39A14-related early onset dystonia parkinsonism, OMIM:617013.0; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 SLC25A13 Achchuthan Shanmugasundram reviewed gene: SLC25A13: Rating: GREEN; Mode of pathogenicity: ; Publications: 37063661, 29152073, 40992288, 36599957; Phenotypes: MONDO:0011601, OMIM:605814.0, SLC25A13-related citrullinemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 SF1 Achchuthan Shanmugasundram reviewed gene: SF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40987292; Phenotypes: MONDO:0700092, SF1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 SEPHS1 Achchuthan Shanmugasundram reviewed gene: SEPHS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38531365; Phenotypes: MONDO:0700092, SEPHS1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 RYBP Achchuthan Shanmugasundram reviewed gene: RYBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 39891528; Phenotypes: MONDO:0100038, RYBP-related neurodevelopmental disorder with congenital anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 RREB1 Achchuthan Shanmugasundram reviewed gene: RREB1: Rating: RED; Mode of pathogenicity: ; Publications: 40418122, 38332451; Phenotypes: RREB1-related RASopathy syndrome with congenital heart disease, genitourinary malformations, and developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 RPS6KC1 Achchuthan Shanmugasundram reviewed gene: RPS6KC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 41130203; Phenotypes: RPS6KC1-related complex neurodevelopmental disorder with spasticity and hypoplasia of corpus callosum, MONDO:0100038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 ROBO1 Achchuthan Shanmugasundram reviewed gene: ROBO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35227688, 28286008, 30692597, 29194579; Phenotypes: ROBO1-related neurooculorenal syndrome, OMIM:620305.0, MONDO:0957210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 RNU5B-1 Achchuthan Shanmugasundram reviewed gene: RNU5B-1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40442284, 40379786; Phenotypes: RNU5B-1-related neurodevelopmental disorder with abnormal brain imaging and congenital anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 RNU2-2P Achchuthan Shanmugasundram reviewed gene: RNU2-2P: Rating: GREEN; Mode of pathogenicity: ; Publications: 40210679, 40442284; Phenotypes: MONDO:0100038, RNU2-2-related neurodevelopmental disorder with seizures and hyperventilation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 RICTOR Achchuthan Shanmugasundram reviewed gene: RICTOR: Rating: RED; Mode of pathogenicity: Other; Publications: 39738822; Phenotypes: RICTOR-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 RFX7 Achchuthan Shanmugasundram reviewed gene: RFX7: Rating: GREEN; Mode of pathogenicity: ; Publications: 33658631, 33584783, 36334883, 39007708, 25961944, 25363760; Phenotypes: OMIM:620330.0, MONDO:0957228, RFX7-related neurodevelopmental disorder with autism and other behavioural abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 RFX4 Achchuthan Shanmugasundram reviewed gene: RFX4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25961944, 33658631; Phenotypes: RFX4-related neurodevelopmental disorder with autism and other behavioural abnormalities, MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 RFX3 Achchuthan Shanmugasundram reviewed gene: RFX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 31981491, 33658631, 35982159, 25844147, 27525107, 37717291, 21792059; Phenotypes: MONDO:0100038, RFX3-related neurodevelopmental disorder with autism and other behavioural abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 RCC1 Achchuthan Shanmugasundram reviewed gene: RCC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40683276; Phenotypes: RCC1-related infection-induced acute-onset axonal neuropathy with cerebral and cerebellar atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 RBCK1 Achchuthan Shanmugasundram reviewed gene: RBCK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 38922716, 38588043, 35017290, 38329383, 23798481, 38077957, 32187699; Phenotypes: RBCK1-related polyglucosan body cardiac and skeletal myopathy with or without immunodeficiency, MONDO:0014389, OMIM:615895.0; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 RAB5C Achchuthan Shanmugasundram reviewed gene: RAB5C: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37552066; Phenotypes: RAB5C-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 PSMD11 Achchuthan Shanmugasundram reviewed gene: PSMD11: Rating: RED; Mode of pathogenicity: ; Publications: 38866022; Phenotypes: PSMD11-related neurodevelopmental disorder with or without obesity; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 PPP2R5C Achchuthan Shanmugasundram reviewed gene: PPP2R5C: Rating: GREEN; Mode of pathogenicity: Other; Publications: 39978342; Phenotypes: PPP2R5C-related neurodevelopmental disorder with macrocephaly and hypotonia, with or without seizures, MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 PPP2R2B Achchuthan Shanmugasundram reviewed gene: PPP2R2B: Rating: RED; Mode of pathogenicity: ; Publications: 25356899, 39565297; Phenotypes: PPP2R2B-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 PPP1R3F Achchuthan Shanmugasundram reviewed gene: PPP1R3F: Rating: RED; Mode of pathogenicity: ; Publications: 37531237; Phenotypes: PPP1R3F-related neurodevelopmental disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v6.17 POP1 Achchuthan Shanmugasundram reviewed gene: POP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27380734, 32134183, 21455487, 28067412, 38351533; Phenotypes: POP1-related anauxetic dysplasia, MONDO:0054561, OMIM:617396.0; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 PLXNB2 Achchuthan Shanmugasundram reviewed gene: PLXNB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 38458752; Phenotypes: PLXNB2-related hearing loss, amelogenesis imperfecta and intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 PLD1 Achchuthan Shanmugasundram reviewed gene: PLD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33645542, 39681445, 37770978, 27799408, 39553471; Phenotypes: MONDO:0008913, OMIM:212093.0, PLD1-related cardiac valvular dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 PKDCC Achchuthan Shanmugasundram reviewed gene: PKDCC: Rating: GREEN; Mode of pathogenicity: ; Publications: 36896672, 37592254, 30478137, 38860479; Phenotypes: PKDCC-related rhizomelic limb shortening with dysmorphic features and short stature, OMIM:618821.0, MONDO:0032935; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 PISD Achchuthan Shanmugasundram reviewed gene: PISD: Rating: RED; Mode of pathogenicity: ; Publications: 31263216, 30858161, 30488656, 38801004; Phenotypes: OMIM:618889.0, MONDO:0030045, PISD-related spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 PHF12 Achchuthan Shanmugasundram reviewed gene: PHF12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MONDO:0700092, PHF12-related developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 PHEX Achchuthan Shanmugasundram reviewed gene: PHEX: Rating: GREEN; Mode of pathogenicity: ; Publications: 18252791, 37059315, 2894375, 15029877, 35896147, 38722819, 39710377, 34633109, 39877728, 16055933, 32329911; Phenotypes: PHEX-related hypophosphatemic rickets, MONDO:0010619, OMIM:307800.0; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v6.17 PARS2 Achchuthan Shanmugasundram reviewed gene: PARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29410512, 29915213, 25629079, 39253392, 37956963, 38469956, 38087948, 28077841, 32514400; Phenotypes: OMIM:618437.0, PARS2-related developmental and epileptic encephalopathy with or without cardiomyopathy, MONDO:0032752; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 PACSIN3 Achchuthan Shanmugasundram reviewed gene: PACSIN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 29202928, 38637313; Phenotypes: PACSIN3-related childhood-onset myopathy with hyperCKaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 NUP188 Achchuthan Shanmugasundram reviewed gene: NUP188: Rating: GREEN; Mode of pathogenicity: ; Publications: 32275884, 32021605; Phenotypes: NUP188-related neurodegeneration, cataracts and facial dysmorphisms, OMIM:618804.0, MONDO:0032926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 NUDCD2 Achchuthan Shanmugasundram reviewed gene: NUDCD2: Rating: RED; Mode of pathogenicity: ; Publications: 37272762; Phenotypes: NUDCD2-related brain and cardiac malformations with cholestasis and renal failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 NSUN6 Achchuthan Shanmugasundram reviewed gene: NSUN6: Rating: RED; Mode of pathogenicity: ; Publications: 37226891; Phenotypes: NSUN6-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 MMS19 Achchuthan Shanmugasundram reviewed gene: MMS19: Rating: RED; Mode of pathogenicity: ; Publications: 38411040; Phenotypes: MMS19-related dihydropyrimidine dehydrogenase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 MIR140 Achchuthan Shanmugasundram reviewed gene: MIR140: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30804514; Phenotypes: MONDO:0032835, MIR140-related spondyloepiphyseal dysplasia, Nishimura type; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 MARK4 Achchuthan Shanmugasundram reviewed gene: MARK4: Rating: RED; Mode of pathogenicity: Other; Publications: 38041405; Phenotypes: MONDO:0700092, MARK4-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 MAP3K20 Achchuthan Shanmugasundram reviewed gene: MAP3K20: Rating: GREEN; Mode of pathogenicity: ; Publications: 27816943, 38451290, 32021595, 26755636; Phenotypes: MONDO:0054695, MAP3K20-related split-foot malformation with mesoaxial polydactyly, MAP3K20-related ectodermal dysplasia with craniosynostosis, sensorineural hearing loss, and limb anomalies, MAP3K20-related centronuclear myopathy, OMIM:616890.0, MONDO:0014816, OMIM:617760.0; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 KNL1 Achchuthan Shanmugasundram reviewed gene: KNL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26621532, 22983954, 26626498, 27149178, 27784895, 37937525; Phenotypes: OMIM:604321.0, KNL1-related primary microcephaly, MONDO:0011437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 KCNB2 Achchuthan Shanmugasundram reviewed gene: KCNB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 38503299; Phenotypes: KCNB2-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 HMGA2 Achchuthan Shanmugasundram reviewed gene: HMGA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25809938, 21803798, 38840187, 38516887, 32421827, 29655892; Phenotypes: MONDO:0020795, HMGA2-related Silver-Russell-like syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 HEATR5B Achchuthan Shanmugasundram reviewed gene: HEATR5B: Rating: RED; Mode of pathogenicity: ; Publications: 38622473, 33824466; Phenotypes: HEATR5B-related pontocerebellar hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 GTF3C5 Achchuthan Shanmugasundram reviewed gene: GTF3C5: Rating: GREEN; Mode of pathogenicity: ; Publications: 38520561; Phenotypes: MONDO:0100038, GTF3C5-related neurodevelopmental disorder with growth restriction, skeletal anomalies, cerebellar hypoplasia and hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 GTF3C3 Achchuthan Shanmugasundram reviewed gene: GTF3C3: Rating: GREEN; Mode of pathogenicity: ; Publications: 39636576; Phenotypes: GTF3C3-related neurodevelopmental disorder with hypoplasia of corpus callosum and/or cerebellar atrophy, MONDO:0100038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 GSC Achchuthan Shanmugasundram reviewed gene: GSC: Rating: GREEN; Mode of pathogenicity: ; Publications: 24290375; Phenotypes: OMIM:602471.0, MONDO:0011227, GSC-related short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 GABRA4 Achchuthan Shanmugasundram reviewed gene: GABRA4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38565639; Phenotypes: GABRA4-related neurodevelopmental disorder with seizures, MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 FRYL Achchuthan Shanmugasundram reviewed gene: FRYL: Rating: GREEN; Mode of pathogenicity: ; Publications: 38479391; Phenotypes: MONDO:0975953, FRYL-related neurodevelopmental disorder with dysmorphic facial features, with or without congenital abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 FEZF2 Achchuthan Shanmugasundram reviewed gene: FEZF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 38425142; Phenotypes: FEZF2-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 FASTKD5 Achchuthan Shanmugasundram reviewed gene: FASTKD5: Rating: GREEN; Mode of pathogenicity: ; Publications: 40499538; Phenotypes: FASTKD5-related Leigh syndrome, MONDO:0009723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 FAM177A1 Achchuthan Shanmugasundram reviewed gene: FAM177A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25558065, 38767059; Phenotypes: MONDO:0100038, FAM177A1-related neurodevelopmental disorder with macrocephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 EIF3B Achchuthan Shanmugasundram reviewed gene: EIF3B: Rating: GREEN; Mode of pathogenicity: ; Publications: 41033306; Phenotypes: EIF3B-related neurodevelopmental disorder with cardiac anomalies and craniofacial dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 EIF3A Achchuthan Shanmugasundram reviewed gene: EIF3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 41033306; Phenotypes: MONDO:0100038, EIF3A-related neurodevelopmental disorder with cardiac anomalies and craniofacial dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 EFL1 Achchuthan Shanmugasundram reviewed gene: EFL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31151987, 29970384, 28331068; Phenotypes: EFL1-related Shwachman-Diamond syndrome, MONDO:0044205, OMIM:617941.0; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 DRG1 Achchuthan Shanmugasundram reviewed gene: DRG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 37179472; Phenotypes: MONDO:0957990, OMIM:620641.0, DRG1-related neurodevelopmental disorder with microcephaly and dysmorphic facial features (Tan-Almurshedi syndrome); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 DOCK4 Achchuthan Shanmugasundram reviewed gene: DOCK4: Rating: RED; Mode of pathogenicity: ; Publications: 38526744; Phenotypes: DOCK4-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 DOCK3 Achchuthan Shanmugasundram reviewed gene: DOCK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 29130632, 30976111, 40151040, 28195318; Phenotypes: DOCK3-related neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, OMIM:618292.0, MONDO:0032661; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 DOCK2 Achchuthan Shanmugasundram reviewed gene: DOCK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30838481, 26083206, 34872585, 33928462, 36541113; Phenotypes: OMIM:616433.0, DOCK2-related severe combined immunodeficiency, MONDO:0014637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 DDX17 Achchuthan Shanmugasundram reviewed gene: DDX17: Rating: GREEN; Mode of pathogenicity: ; Publications: 39405200; Phenotypes: MONDO:0700092, DDX17-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 CLDND1 Achchuthan Shanmugasundram reviewed gene: CLDND1: Rating: RED; Mode of pathogenicity: ; Publications: 38493358; Phenotypes: CLDND1-related leukodystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 CIAO1 Achchuthan Shanmugasundram reviewed gene: CIAO1: Rating: RED; Mode of pathogenicity: ; Publications: 38411040, 38950322; Phenotypes: CIAO1-related neuromuscular disorder with intellectual disability, MONDO:0975806; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 CELSR3 Achchuthan Shanmugasundram reviewed gene: CELSR3: Rating: RED; Mode of pathogenicity: ; Publications: 38429302; Phenotypes: MONDO:0100038, CELSR3-related neurodevelopmental disorder with or without urinary tract abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 CELF4 Achchuthan Shanmugasundram reviewed gene: CELF4: Rating: GREEN; Mode of pathogenicity: ; Publications: 40108438; Phenotypes: CELF4-related neurodevelopmental disorder with overgrowth; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 CDO1 Achchuthan Shanmugasundram reviewed gene: CDO1: Rating: RED; Mode of pathogenicity: ; Publications: 39949058; Phenotypes: CDO1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 CAPN15 Achchuthan Shanmugasundram reviewed gene: CAPN15: Rating: GREEN; Mode of pathogenicity: ; Publications: 33410501, 40485323, 32885237, 36786328, 37596828; Phenotypes: MONDO:0036189, CAPN15-related oculogastrointestinal neurodevelopmental syndrome, OMIM:619318.0; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 ATXN7L3 Achchuthan Shanmugasundram reviewed gene: ATXN7L3: Rating: GREEN; Mode of pathogenicity: ; Publications: 38753057; Phenotypes: ATXN7L3-related developmental delay, hypotonia and facial dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 ADAMTS19 Achchuthan Shanmugasundram reviewed gene: ADAMTS19: Rating: GREEN; Mode of pathogenicity: ; Publications: 32323311, 31844321; Phenotypes: ADAMTS19-related cardiac valvular dysplasia, OMIM:620067.0, MONDO:0859572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 ADAMTS15 Achchuthan Shanmugasundram reviewed gene: ADAMTS15: Rating: GREEN; Mode of pathogenicity: ; Publications: 35962790; Phenotypes: ADAMTS15-related distal arthrogryposis, OMIM:620545.0, MONDO:0957819; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 ABCA2 Achchuthan Shanmugasundram reviewed gene: ABCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31047799, 31231135, 29302074, 30237576, 38228874; Phenotypes: ABCA2-related intellectual developmental disorder with poor growth and with or without seizures or ataxia, MONDO:0032930, OMIM:618808.0; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 ZSCAN10 Achchuthan Shanmugasundram commented on gene: ZSCAN10: The DDG2P confidence category, allelic requirement and molecular mechanism for ZSCAN10-related neurodevelopmental disorder with oto-facial malformations are moderate, biallelic_autosomal and loss of function (PMID:38386308). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03562.
DDG2P v6.17 ZNF713 Achchuthan Shanmugasundram edited their review of gene: ZNF713: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ZNF713-related autism are limited, monoallelic_autosomal and undetermined (PMID:25196122). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01264.; Changed phenotypes to: AUTISM, OMIM:209850, OMIM:209850.0, MONDO:0005260, ZNF713-related autism
DDG2P v6.17 ZNF526 Achchuthan Shanmugasundram edited their review of gene: ZNF526: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ZNF526-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00665.; Changed phenotypes to: ZNF526-related intellectual developmental disorder, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, MONDO:0859251, OMIM:619877.0
DDG2P v6.17 ZNF407 Achchuthan Shanmugasundram edited their review of gene: ZNF407: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ZNF407-related neurodevelopmental disorder are limited, biallelic_autosomal and undetermined (PMIDs: 24907849, 32737394). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03027.; Changed publications to: 24907849, 32737394; Changed phenotypes to: ZNF407-related Neurodevelopmental Disorder, OMIM:619557.0, MONDO:0859198, ZNF407-related neurodevelopmental disorder
DDG2P v6.17 ZMYND8 Achchuthan Shanmugasundram edited their review of gene: ZMYND8: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ZMYND8-related neurodevelopmental disorder are moderate, monoallelic_autosomal and loss of function (PMID:35916866). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03372.; Changed phenotypes to: ZMYND8-related neurodevelopmental disorder, MONDO:0700092
DDG2P v6.17 CYHR1 Achchuthan Shanmugasundram edited their review of gene: CYHR1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ZFTRAF1-related neurodevelopmental disorder are limited, biallelic_autosomal and loss of function (PMID:38641995). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03563.; Changed phenotypes to: ZFTRAF1-related neurodevelopmental disorder, MONDO:0700092
DDG2P v6.17 ZFHX3 Achchuthan Shanmugasundram edited their review of gene: ZFHX3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ZFHX3-related neurodevelopmental disorder are moderate, monoallelic_autosomal and loss of function (PMIDs: 30809043, 38412861). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02901.; Changed publications to: 30809043, 32502225, 38412861; Changed phenotypes to: ZFHX3-related neurodevelopmental disorder, OMIM:104155, ZFHX3-related developmental disorder (monoallelic), ZFHX3-related neurodevelopmental disorder
DDG2P v6.17 ZBTB47 Achchuthan Shanmugasundram commented on gene: ZBTB47: The DDG2P confidence category, allelic requirement and molecular mechanism for ZBTB47-related developmental delay, intellectual disability, hypotonia and seizures are limited, monoallelic_autosomal and undetermined (PMID:38327012). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03548.
DDG2P v6.17 ZBTB16 Achchuthan Shanmugasundram edited their review of gene: ZBTB16: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ZBTB16-related skeletal defects, genital hypoplasia, and intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:18611983). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00630.; Changed publications to: 18611983; Changed phenotypes to: MONDO:0012909, OMIM:612447.0, ZBTB16-related skeletal defects, genital hypoplasia, and intellectual developmental disorder, SKELETAL DEFECTS GENITAL HYPOPLASIA AND INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:612447
DDG2P v6.17 ZBTB11 Achchuthan Shanmugasundram edited their review of gene: ZBTB11: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ZBTB11-related neurodevelopmental disorder with or without cataracts and movement disorder are strong, biallelic_autosomal and loss of function (PMIDs: 29893856, 31130284, 35104841, 36068688, 38899514). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03546.; Changed publications to: 36068688, 38899514, 31130284, 35104841, 29893856; Changed phenotypes to: ZBTB11-related neurodevelopmental disorder with or without cataracts and movement disorder, MONDO:0032715, OMIM:618383.0
DDG2P v6.17 YY1 Achchuthan Shanmugasundram edited their review of gene: YY1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for YY1-related intellectual disability are definitive, monoallelic_autosomal and undetermined (PMIDs: 21076407, 28575647). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00744.; Changed publications to: 21076407, 28575647; Changed phenotypes to: MONDO:0044738, INTELLECTUAL DISABILITY, OMIM:616579, OMIM:617557.0, YY1-related intellectual disability
DDG2P v6.17 YWHAZ Achchuthan Shanmugasundram commented on gene: YWHAZ: The DDG2P confidence category, allelic requirement and molecular mechanism for YWHAZ-related developmental delay with simplified gyral pattern are limited, monoallelic_autosomal and undetermined (PMID:36001342). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03510.
DDG2P v6.17 WRAP53 Achchuthan Shanmugasundram edited their review of gene: WRAP53: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for WRAP53-related dyskeratosis congenita are strong, biallelic_autosomal and loss of function (PMIDs: 21205863, 29514627, 32303682, 34599657). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00718.; Changed publications to: 34599657, 32303682, 29514627, 21205863; Changed phenotypes to: OMIM:613988.0, WRAP53-related dyskeratosis congenita, MONDO:0013520, WRAP53-related dyskeratosis congenita, OMIM:613988
DDG2P v6.17 WNT7A Achchuthan Shanmugasundram edited their review of gene: WNT7A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for WNT7A- related skeletal malformations syndrome are definitive, biallelic_autosomal and undetermined (PMIDs: 16826533, 20949531, 21271649, 21344627, 9128926). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00391.; Changed publications to: 21344627, 20949531, 9128926, 16826533, 21271649; Changed phenotypes to: OMIM:228930.0, WNT7A- related skeletal malformations syndrome, WNT7A- associated skeletal malformations syndrome, OMIM:228930
DDG2P v6.17 WNT5A Achchuthan Shanmugasundram edited their review of gene: WNT5A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for WNT5A-related Robinow syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 19918918, 5771504). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01061.; Changed phenotypes to: OMIM:180700.0, WNT5A-related Robinow syndrome, WNT5A-RELATED ROBINOW SYNDROME, AUTOSOMAL DOMINANT, OMIM:180700, MONDO:0024455
DDG2P v6.17 WNT4 Achchuthan Shanmugasundram edited their review of gene: WNT4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for WNT4-related SERKAL syndrome are strong, biallelic_autosomal and undetermined (PMID:18179883). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00183. The DDG2P confidence category, allelic requirement and molecular mechanism for WNT4-related mullerian aplasia and hyperandrogenism are strong, monoallelic_autosomal and undetermined (PMID:15317892). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01570.; Changed phenotypes to: SERKAL SYNDROME, OMIM:611812, MONDO:0012734, WNT4-related mullerian aplasia and hyperandrogenism, MONDO:0008019, OMIM:611812.0, MULLERIAN APLASIA AND HYPERANDROGENISM, OMIM:158330, OMIM:158330.0, WNT4-related SERKAL syndrome
DDG2P v6.17 WDR81 Achchuthan Shanmugasundram edited their review of gene: WDR81: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for WDR81-related cerebellar ataxia, intellectual developmental disorder, and dysequilibrium syndrome are limited, biallelic_autosomal and undetermined (PMID:21885617). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01695.; Changed phenotypes to: CEREBELLAR ATAXIA, INTELLECTUAL DEVELOPMENTAL DISORDER, AND DYSEQUILIBRIUM SYNDROME 2, OMIM:610185, OMIM:610185.0, MONDO:0012430, WDR81-related cerebellar ataxia, intellectual developmental disorder, and dysequilibrium syndrome
DDG2P v6.17 WDR5 Achchuthan Shanmugasundram edited their review of gene: WDR5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for WDR5-related neurodevelopmental disorder are moderate, monoallelic_autosomal and undetermined (PMID:36408368). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03417.; Changed phenotypes to: WDR5-related neurodevelopmental disorder, MONDO:0700092
DDG2P v6.17 WDR45B Achchuthan Shanmugasundram edited their review of gene: WDR45B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for WDR45B-related intellectual developmental disorder are moderate, biallelic_autosomal and undetermined (PMIDs: 21937992, 28503735, 35322404). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00898.; Changed phenotypes to: WDR45B-related intellectual developmental disorder, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER
DDG2P v6.17 WDR37 Achchuthan Shanmugasundram edited their review of gene: WDR37: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for WDR37-related syndromic intellectual disability are definitive, monoallelic_autosomal and undetermined (PMIDs: 31327508, 31327510). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02760.; Changed publications to: 31327510, 31327508; Changed phenotypes to: MONDO:0032850, OMIM:618652.0, WDR37-related syndromic intellectual disability, SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100
DDG2P v6.17 WDR11 Achchuthan Shanmugasundram edited their review of gene: WDR11: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for WDR11-related intellectual disability and microcephaly are strong, biallelic_autosomal and loss of function (PMID:34413497). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03182.; Changed phenotypes to: WDR11-associated intellectual disability and microcephaly, WDR11-related intellectual disability and microcephaly, OMIM:620237.0, MONDO:0859373
DDG2P v6.17 VPS4A Achchuthan Shanmugasundram edited their review of gene: VPS4A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for VPS4A-related CIMDAG Syndrome (monoallelic) are definitive, monoallelic_autosomal and dominant negative (PMIDs: 33186543, 33186545). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03076. The DDG2P confidence category, allelic requirement and molecular mechanism for VPS4A-related CIMDAG Syndrome (biallelic) are limited, biallelic_autosomal and undetermined (PMID:33186543). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03077.; Changed phenotypes to: MONDO:0035819, CIMDAG Syndrome, biallelic, OMIM:619273.0, VPS4A-related CIMDAG Syndrome (monoallelic), CIMDAG Syndrome, monoallelic, VPS4A-related CIMDAG Syndrome (biallelic)
DDG2P v6.17 VANGL1 Achchuthan Shanmugasundram edited their review of gene: VANGL1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for VANGL1-related neural tube defects are limited, monoallelic_autosomal and undetermined (PMID:17409324). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00383.; Changed phenotypes to: VANGL1-related neural tube defects, MONDO:0020705, OMIM:182940.0, NEURAL TUBE DEFECTS, OMIM:182940
DDG2P v6.17 VAMP2 Achchuthan Shanmugasundram edited their review of gene: VAMP2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for VAMP2-related intellectual disability are strong, monoallelic_autosomal and undetermined (PMID:30929742). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02785.; Changed phenotypes to: INTELLECTUAL DISABILITY, OMIM:616579, MONDO:0032900, VAMP2-related intellectual disability, OMIM:618760.0
DDG2P v6.17 VAC14 Achchuthan Shanmugasundram edited their review of gene: VAC14: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for VAC14-related progressive neurological disorder and regression of developmental milestones are limited, biallelic_autosomal and undetermined (PMID:27292112). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01753.; Changed phenotypes to: Progressive neurological disorder and regression of developmental milestones, VAC14-related progressive neurological disorder and regression of developmental milestones
DDG2P v6.17 UTP4 Achchuthan Shanmugasundram edited their review of gene: UTP4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for UTP4-related North American Indian childhood cirrhosis are limited, biallelic_autosomal and undetermined (PMID:12417987). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01510.; Changed phenotypes to: MONDO:0011497, UTP4-related North American Indian childhood cirrhosis, NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS, OMIM:205306
DDG2P v6.17 USP14 Achchuthan Shanmugasundram edited their review of gene: USP14: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for USP14-related syndromic neurodevelopmental disorder with arthrogryposis are moderate, biallelic_autosomal and undetermined (PMIDs: 35066879, 38469793). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03307.; Changed publications to: 35066879, 38469793; Changed phenotypes to: USP14-related syndromic neurodevelopmental disorder with arthrogryposis, MONDO:0100038
DDG2P v6.17 UROC1 Achchuthan Shanmugasundram edited their review of gene: UROC1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for UROC1-related urocanase deficiency are disputed, biallelic_autosomal and undetermined (PMIDs: 19304569, 27391121, 30619714, 32439973). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01370.; Changed rating: RED; Changed publications to: 27391121, 19304569, 32439973, 30619714; Changed phenotypes to: MONDO:0010167, UROCANASE DEFICIENCY, OMIM:276880, UROC1-related urocanase deficiency, OMIM:276880.0
DDG2P v6.17 UQCRQ Achchuthan Shanmugasundram edited their review of gene: UQCRQ: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for UQCRQ-related mitochondrial respiratory chain complex III deficiency are strong, biallelic_autosomal and undetermined (PMID:18439546). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01004.; Changed publications to: 18439546; Changed phenotypes to: MONDO:0014065, OMIM:615159.0, UQCRQ-related mitochondrial respiratory chain complex III deficiency, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRQ RELATED, OMIM:319211
DDG2P v6.17 UNC45B Achchuthan Shanmugasundram edited their review of gene: UNC45B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for UNC45B-related progressive myopathy with eccentric cores are strong, biallelic_autosomal and undetermined (PMID:33217308). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03074.; Changed phenotypes to: UNC45B-associated Progressive Myopathy with Eccentric Cores, UNC45B-related progressive myopathy with eccentric cores, OMIM:619178.0, MONDO:0030927
DDG2P v6.17 UHRF1 Achchuthan Shanmugasundram edited their review of gene: UHRF1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for UHRF1-related immunodeficiency-centromeric instability-facial anomalies syndrome are limited, biallelic_autosomal and undetermined (PMID:36458887). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03457.; Changed phenotypes to: MONDO:0000133, UHRF1-related immunodeficiency-centromeric instability-facial anomalies syndrome
DDG2P v6.17 UFSP2 Achchuthan Shanmugasundram edited their review of gene: UFSP2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for UFSP2-related developmental delay and epilepsy are limited, biallelic_autosomal and undetermined (PMID:33473208). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03164.; Changed phenotypes to: OMIM:620028.0, UFSP2-related developmental delay and epilepsy, MONDO:0031052, UFSP2-associated developmental delay and epilepsy
DDG2P v6.17 UFC1 Achchuthan Shanmugasundram edited their review of gene: UFC1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for UFC1-related severe early-onset encephalopathy with progressive microcephaly are definitive, biallelic_autosomal and undetermined (PMID:29868776). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02544.; Changed phenotypes to: MONDO:0060752, UFC1-related severe early-onset encephalopathy with progressive microcephaly, OMIM:618076.0, Severe early-onset encephalopathy with progressive microcephaly
DDG2P v6.17 UBR7 Achchuthan Shanmugasundram edited their review of gene: UBR7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for UBR7-related intellectual developmental disorder are strong, biallelic_autosomal and loss of function (PMIDs: 21937992, 33340455, 36757286). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01524.; Changed publications to: 33340455, 36757286, 21937992; Changed phenotypes to: UBR7-related intellectual developmental disorder, MONDO:0030963, OMIM:619189.0, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER
DDG2P v6.17 U2AF2 Achchuthan Shanmugasundram edited their review of gene: U2AF2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for U2AF2-related neurodevelopmental disorder are strong, monoallelic_autosomal and undetermined (PMIDs: 33057194, 33644862, 34112922, 36747105, 37962958). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02884.; Changed publications to: 34112922, 33057194, 37962958, 36747105, 33644862; Changed phenotypes to: U2AF2-related developmental disorder (monoallelic), OMIM:620535.0, MONDO:0957810, U2AF2-related neurodevelopmental disorder
DDG2P v6.17 TUFM Achchuthan Shanmugasundram edited their review of gene: TUFM: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TUFM-related combined oxidative phosphorylation deficiency are strong, biallelic_autosomal and undetermined (PMID:17160893). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01108.; Changed phenotypes to: TUFM-related combined oxidative phosphorylation deficiency, OMIM:610678.0, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, OMIM:610678, MONDO:0012534
DDG2P v6.17 TUBGCP2 Achchuthan Shanmugasundram edited their review of gene: TUBGCP2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TUBGCP2-related microcephaly and lissencephaly spectrum disorders are strong, biallelic_autosomal and undetermined (PMID:31630790). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02836.; Changed phenotypes to: TUBGCP2-related microcephaly and lissencephaly spectrum disorders, MONDO:0032893, Microcephaly and Lissencephaly Spectrum Disorders, OMIM:618737.0
DDG2P v6.17 TUBG1 Achchuthan Shanmugasundram edited their review of gene: TUBG1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TUBG1-related posteriorly predominant pachygyria and severe microcephaly are strong, monoallelic_autosomal and undetermined (PMID:23603762). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02358.; Changed phenotypes to: Posteriorly predominant pachygyria and severe microcephaly, TUBG1-related posteriorly predominant pachygyria and severe microcephaly, OMIM:615412.0, MONDO:0014171
DDG2P v6.17 TUBB3 Achchuthan Shanmugasundram edited their review of gene: TUBB3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TUBB3-related cortical dysplasia, complex, with other brain malformations are strong, monoallelic_autosomal and undetermined (PMIDs: 20074521, 20829227). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00755.; Changed publications to: 20829227, 20074521; Changed phenotypes to: MONDO:0013541, TUBB3-related cortical dysplasia, complex, with other brain malformations, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, OMIM:614039.0
DDG2P v6.17 TUBB2A Achchuthan Shanmugasundram edited their review of gene: TUBB2A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TUBB2A-related cortical dysplasia, complex, with other brain malformations are definitive, monoallelic_autosomal and undetermined (PMID:24702957). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00402.; Changed phenotypes to: OMIM:615763.0, TUBB2A-related cortical dysplasia, complex, with other brain malformations, MONDO:0014337, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, OMIM:615763
DDG2P v6.17 TUBB Achchuthan Shanmugasundram edited their review of gene: TUBB: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TUBB-related developmental disorder with cleft palate, cranial malformations and circumferential skin creases (Kunze type) are strong, monoallelic_autosomal and undetermined (PMIDs: 23246003, 23324645, 26637975, 34211110). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01654.; Changed publications to: 34211110, 23324645, 23246003, 26637975; Changed phenotypes to: MONDO:0020738, Circumferential Skin Creases Kunze Type, OMIM:156610, OMIM:156610.0, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, OMIM:615771, TUBB-related developmental disorder with cleft palate, cranial malformations and circumferential skin creases (Kunze type)
DDG2P v6.17 TTI2 Achchuthan Shanmugasundram edited their review of gene: TTI2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TTI2-related intellectual developmental disorder are strong, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01468.; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:615541.0, TTI2-related intellectual developmental disorder, MONDO:0014238
DDG2P v6.17 TTC12 Achchuthan Shanmugasundram edited their review of gene: TTC12: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TTC12-related primary ciliary dyskinesia are strong, biallelic_autosomal and loss of function (PMID:31978331). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02927.; Changed rating: GREEN; Changed phenotypes to: TTC12-related Primary Ciliary Dyskinesia, OMIM:618801.0, MONDO:0032924, TTC12-related primary ciliary dyskinesia
DDG2P v6.17 TSHR Achchuthan Shanmugasundram edited their review of gene: TSHR: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TSHR-related hypothyroidism, congenital, nongoitrous are definitive, biallelic_autosomal and undetermined (PMIDs: 10720030, 11095460, 12050212, 7528344, 8954020, 9100579, 9185526, 9329388, 9589691). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01099. The DDG2P confidence category, allelic requirement and molecular mechanism for TSHR-related hyperthyroidism, familial gestational are definitive, monoallelic_autosomal and gain of function (PMID:9854118). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01423.; Changed publications to: 12050212, 10720030, 9100579, 9185526, 9329388, 8954020, 9854118, 11095460, 7528344, 9589691; Changed phenotypes to: TSHR-related hypothyroidism, congenital, nongoitrous, MONDO:0011309, OMIM:603373.0, HYPERTHYROIDISM, FAMILIAL GESTATIONAL, OMIM:603373, TSHR-related hyperthyroidism, familial gestational, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, OMIM:275200, MONDO:0010142, OMIM:275200.0
DDG2P v6.17 TSEN34 Achchuthan Shanmugasundram edited their review of gene: TSEN34: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TSEN34-related pontocerebellar hypoplasia are strong, biallelic_autosomal and undetermined (PMID:18711368). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00487.; Changed publications to: 18711368; Changed phenotypes to: PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4, OMIM:316970, MONDO:0012891, TSEN34-related pontocerebellar hypoplasia, OMIM:612390.0
DDG2P v6.17 TSEN2 Achchuthan Shanmugasundram edited their review of gene: TSEN2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TSEN2-related pontocerebellar hypoplasia are strong, biallelic_autosomal and undetermined (PMIDs: 18711368, 20952379, 23562994). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01310.; Changed publications to: 18711368, 20952379, 23562994; Changed phenotypes to: PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4, OMIM:316970, TSEN2-related pontocerebellar hypoplasia, MONDO:0012890, OMIM:612389.0
DDG2P v6.17 TSEN15 Achchuthan Shanmugasundram edited their review of gene: TSEN15: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TSEN15-related pontocerebellar hypoplasia and progressive microcephaly are strong, biallelic_autosomal and undetermined (PMID:27392077). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01755.; Changed phenotypes to: Pontocerebellar Hypoplasia and Progressive Microcephaly, MONDO:0014874, OMIM:617026.0, TSEN15-related pontocerebellar hypoplasia and progressive microcephaly
DDG2P v6.17 TRRAP Achchuthan Shanmugasundram edited their review of gene: TRRAP: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TRRAP-related autism and syndromic intellectual disability are strong, monoallelic_autosomal and undetermined (PMIDs: 30424743, 30827496). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02646.; Changed publications to: 30424743, 30827496; Changed phenotypes to: OMIM:618454.0, MONDO:0032760, Autism and Syndromic Intellectual Disability, TRRAP-related autism and syndromic intellectual disability
DDG2P v6.17 TRPV4 Achchuthan Shanmugasundram edited their review of gene: TRPV4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TRPV4-related spondylometaphyseal dysplasia, Kozlowski type are definitive, monoallelic_autosomal and gain of function (PMIDs: 19232556, 20577006). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01027. The DDG2P confidence category, allelic requirement and molecular mechanism for TRPV4-related metatropic dysplasia are definitive, monoallelic_autosomal and undetermined (PMIDs: 19232556, 20425821, 20577006, 21964829). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01579.; Changed publications to: 20425821, 21964829, 20577006, 19232556; Changed phenotypes to: MONDO:0007986, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, OMIM:184252, METATROPIC DYSPLASIA, OMIM:156530, MONDO:0008477, OMIM:184252.0, TRPV4-related metatropic dysplasia, TRPV4-related spondylometaphyseal dysplasia, Kozlowski type, OMIM:156530.0
DDG2P v6.17 TRPV3 Achchuthan Shanmugasundram edited their review of gene: TRPV3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TRPV3-related Olmsted syndrome are strong, monoallelic_autosomal and undetermined (PMID:22405088). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00500.; Changed phenotypes to: OLMSTED SYNDROME, OMIM:614594, TRPV3-related Olmsted syndrome, OMIM:614594.0, MONDO:0100296
DDG2P v6.17 TRPM3 Achchuthan Shanmugasundram edited their review of gene: TRPM3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TRPM3-related developmental disorder are definitive, monoallelic_autosomal and undetermined (PMIDs: 31278393, 32439617, 34438093, 35146895, 36648066). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02899.; Changed publications to: 34438093, 31278393, 36648066, 35146895, 32439617; Changed phenotypes to: MONDO:0859365, TRPM3-related developmental disorder, OMIM:620224.0, TRPM3-related developmental disorder (monoallelic)
DDG2P v6.17 TRMT10C Achchuthan Shanmugasundram edited their review of gene: TRMT10C: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TRMT10C-related mitochondrial RNA processing and multiple respiratory chain deficiencies are strong, biallelic_autosomal and undetermined (PMID:27132592). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01736.; Changed phenotypes to: OMIM:616974.0, MONDO:0014856, Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies, TRMT10C-related mitochondrial RNA processing and multiple respiratory chain deficiencies
DDG2P v6.17 TRIT1 Achchuthan Shanmugasundram edited their review of gene: TRIT1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TRIT1-related tRNA isopentenyltransferase deficiency are limited, biallelic_autosomal and undetermined (PMIDs: 24901367, 28185376, 31140736, 32088416, 32948376). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01848.; Changed rating: RED; Changed publications to: 24901367, 32088416, 32948376, 28185376, 31140736; Changed phenotypes to: MONDO:0054742, OMIM:617873.0, TRIT1-related tRNA isopentenyltransferase deficiency, tRNA isopentenyltransferase deficiency
DDG2P v6.17 TRIO Achchuthan Shanmugasundram edited their review of gene: TRIO: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TRIO-related intellectual disability are strong, monoallelic_autosomal and undetermined (PMIDs: 26235986, 27418539, 28928363, 32109419). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01096.; Changed publications to: 26235986, 32109419, 27418539, 28928363; Changed phenotypes to: INTELLECTUAL DISABILITY, OMIM:601893, TRIO-related intellectual disability, MONDO:0032939, OMIM:618825.0
DDG2P v6.17 TRAPPC2L Achchuthan Shanmugasundram edited their review of gene: TRAPPC2L: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TRAPPC2L-related encephalopathy, progressive, early-onset, with episodic rhabdomyolysis are limited, biallelic_autosomal and undetermined (PMIDs: 30120216, 32843486). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03196.; Changed publications to: 30120216, 32843486; Changed phenotypes to: TRAPPC2L-related encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, OMIM:618331.0, TRAPPC2L-related Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, OMIM:618331, MONDO:0032681
DDG2P v6.17 TRAPPC10 Achchuthan Shanmugasundram edited their review of gene: TRAPPC10: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TRAPPC10-related intellectual disability are limited, biallelic_autosomal and undetermined (PMID:30167849). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03133.; Changed phenotypes to: OMIM:620027.0, TRAPPC10-related intellectual disability, TRAPPC10-associated intellectual disability, MONDO:0859285
DDG2P v6.17 TRAF7 Achchuthan Shanmugasundram edited their review of gene: TRAF7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TRAF7-related developmental delay congenital anomalies and dysmorphic features are strong, monoallelic_autosomal and undetermined (PMIDs: 29961569, 32376980, 32459067, 33043583, 34247275, 34513876, 35684978, 35733823, 37067385). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02612.; Changed publications to: 33043583, 35684978, 37067385, 35733823, 32376980, 34247275, 29961569, 34513876, 32459067; Changed phenotypes to: MONDO:0032572, TRAF7-related developmental delay congenital anomalies and dysmorphic features, Developmental Delay Congenital Anomalies and Dysmorphic Features, OMIM:618164.0
DDG2P v6.17 TRA2B Achchuthan Shanmugasundram edited their review of gene: TRA2B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TRA2B-related neurodevelopmental syndrome are moderate, monoallelic_autosomal and undetermined (PMID:36549593). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03418.; Changed phenotypes to: MONDO:0700092, TRA2B-related neurodevelopmental syndrome, TRA2B-associated neurodevelopmental syndrome
DDG2P v6.17 TPRKB Achchuthan Shanmugasundram edited their review of gene: TPRKB: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TPRKB-related Galloway-Mowat syndrome are limited, biallelic_autosomal and undetermined (PMID:28805828). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02820.; Changed phenotypes to: TPRKB-related Galloway-Mowat syndrome, MONDO:0033009, OMIM:617731.0, GALLOWAY-MOWAT SYNDROME 5, OMIM:617731
DDG2P v6.17 TPM3 Achchuthan Shanmugasundram edited their review of gene: TPM3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TPM3-related congenital myopathy are definitive, monoallelic_autosomal and undetermined (PMIDs: 24692096, 33768912). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03244.; Changed publications to: 24692096, 33768912; Changed phenotypes to: TPM3-related congenital myopathy, Nemaline/Cap myopathy, OMIM:255310.0, MONDO:0800341
DDG2P v6.17 TPM2 Achchuthan Shanmugasundram edited their review of gene: TPM2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TPM2-related arthrogryposis, distal are strong, monoallelic_autosomal and undetermined (PMID:12592607). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01665.; Changed phenotypes to: ARTHROGRYPOSIS, DISTAL, TYPE 1, OMIM:108120, MONDO:0007157, TPM2-related arthrogryposis, distal, OMIM:108120.0
DDG2P v6.17 TNPO2 Achchuthan Shanmugasundram edited their review of gene: TNPO2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TNPO2-related intellectual disability are limited, monoallelic_autosomal and undetermined (PMID:34314705). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03192.; Changed phenotypes to: TNPO2-related intellectual disability, OMIM:619556.0, MONDO:0859197
DDG2P v6.17 TMEM63A Achchuthan Shanmugasundram edited their review of gene: TMEM63A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TMEM63A-related transient hypomyelination during infancy are strong, monoallelic_autosomal and undetermined (PMID:31587869). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02831.; Changed phenotypes to: Transient Hypomyelination during Infancy, TMEM63A-related transient hypomyelination during infancy, OMIM:618688.0, MONDO:0032871
DDG2P v6.17 TMEM216 Achchuthan Shanmugasundram edited their review of gene: TMEM216: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TMEM216-related Joubert syndrome are strong, biallelic_autosomal and undetermined (PMIDs: 20036350, 20512146). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00552.; Changed publications to: 20036350, 20512146; Changed phenotypes to: MONDO:0011963, TMEM216-related Joubert syndrome, JOUBERT SYNDROME 2, OMIM:608091, OMIM:608091.0
DDG2P v6.17 TMEM163 Achchuthan Shanmugasundram edited their review of gene: TMEM163: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TMEM163-related hypomyelinating leukodystrophy are moderate, monoallelic_autosomal and undetermined (PMIDs: 35455965, 35953447). The cross-cutting modifier is typified by incomplete penetrance. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03373.; Changed publications to: 35455965, 35953447; Changed phenotypes to: TMEM163-related hypomyelinating leukodystrophy, MONDO:0859378, OMIM:620243.0
DDG2P v6.17 TMEM135 Achchuthan Shanmugasundram edited their review of gene: TMEM135: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TMEM135-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01472.; Changed phenotypes to: MONDO:0700092, TMEM135-related intellectual developmental disorder, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER
DDG2P v6.17 TMEM106B Achchuthan Shanmugasundram edited their review of gene: TMEM106B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TMEM106B related hypomyelinating leukodystrophy are strong, monoallelic_autosomal and undetermined (PMIDs: 29186371, 29444210). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02940.; Changed phenotypes to: TMEM106B related hypomyelinating leukodystrophy, OMIM:617964.0, MONDO:0054791
DDG2P v6.17 TLL1 Achchuthan Shanmugasundram edited their review of gene: TLL1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TLL1-related atrial septal defect are limited, monoallelic_autosomal and undetermined (PMID:18830233). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00416.; Changed phenotypes to: OMIM:613087.0, TLL1-related atrial septal defect, ATRIAL SEPTAL DEFECT TYPE 6, OMIM:613087, MONDO:0013123
DDG2P v6.17 TK2 Achchuthan Shanmugasundram edited their review of gene: TK2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TK2-related mitochondrial DNA depletion syndrome, myopathic form are definitive, biallelic_autosomal and undetermined (PMIDs: 11687801, 12391347, 12873860, 35280287, 35750291). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01507.; Changed publications to: 35750291, 12873860, 35280287, 12391347, 11687801; Changed phenotypes to: MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM, OMIM:258276, TK2-related mitochondrial DNA depletion syndrome, myopathic form, MONDO:0012301, OMIM:609560.0
DDG2P v6.17 THOC2 Achchuthan Shanmugasundram edited their review of gene: THOC2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for THOC2-related intellectual developmental disorder are strong, monoallelic_X_hemizygous and undetermined (PMID:26166480). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01676.; Changed phenotypes to: MONDO:0010496, OMIM:300957.0, THOC2-related intellectual developmental disorder, INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 12, OMIM:300957
DDG2P v6.17 THG1L Achchuthan Shanmugasundram edited their review of gene: THG1L: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for THG1L-related cerebellar ataxia are limited, biallelic_autosomal and undetermined (PMIDs: 27307223, 30214071, 31168944, 33682303, 37670026). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03161.; Changed publications to: 31168944, 37670026, 33682303, 30214071, 27307223; Changed phenotypes to: OMIM:618800.0, THG1L-related cerebellar ataxia, THG1L-associated cerebellar ataxia, OMIM:618800, MONDO:0032923
DDG2P v6.17 TGFB1 Achchuthan Shanmugasundram edited their review of gene: TGFB1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TGFB1-related Camurati-Engelmann disease are definitive, monoallelic_autosomal and undetermined (PMIDs: 10973241, 11062463, 15103729). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00412.; Changed publications to: 15103729, 11062463, 10973241; Changed phenotypes to: TGFB1-related Camurati-Engelmann disease, CAMURATI-ENGELMANN DISEASE, OMIM:131300, OMIM:131300.0, MONDO:0007542
DDG2P v6.17 TFRC Achchuthan Shanmugasundram edited their review of gene: TFRC: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TFRC-related combined immunodeficiency are limited, biallelic_autosomal and undetermined (PMID:26642240). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01748.; Changed phenotypes to: Combined immunodeficiency, TFRC-related combined immunodeficiency, MONDO:0014760, OMIM:616740.0
DDG2P v6.17 TFE3 Achchuthan Shanmugasundram edited their review of gene: TFE3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TFE3-related intellectual disability with pigmentary mosaicism and coarse features are definitive, monoallelic_X_heterozygous and undetermined (PMIDs: 1672758, 30595499, 31833172, 32409512, 33057194). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03013.; Changed publications to: 1672758, 33057194, 30595499, 32409512, 31833172; Changed phenotypes to: OMIM:301066.0, MONDO:0859080, Intellectual disability with pigmentary mosaicism and storage disorder, TFE3-related intellectual disability with pigmentary mosaicism, TFE3-related intellectual disability with pigmentary mosaicism and coarse features
DDG2P v6.17 TFAP2B Achchuthan Shanmugasundram edited their review of gene: TFAP2B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TFAP2B-related Char syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 10802654, 11505339, 7645594). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00497.; Changed publications to: 11505339, 7645594, 10802654; Changed phenotypes to: OMIM:169100.0, CHAR SYNDROME, OMIM:169100, MONDO:0008209, TFAP2B-related Char syndrome
DDG2P v6.17 TFAP2A Achchuthan Shanmugasundram edited their review of gene: TFAP2A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TFAP2A-related branchiooculofacial syndrome are definitive, monoallelic_autosomal and undetermined (PMID:31490282). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00703.; Changed phenotypes to: OMIM:113620.0, TFAP2A-related branchiooculofacial syndrome, BRANCHIOOCULOFACIAL SYNDROME, OMIM:113620, MONDO:0007235
DDG2P v6.17 TERT Achchuthan Shanmugasundram edited their review of gene: TERT: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TERT-related dyskeratosis congenita (biallelic) are strong, biallelic_autosomal and undetermined (PMIDs: 16247010, 17785587, 24628319, 25067791, 26546739, 30523342, 32315675, 34890115, 35477117, 35927969). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01663. The DDG2P confidence category, allelic requirement and molecular mechanism for TERT-related dyskeratosis congenita (monoallelic) are strong, monoallelic_autosomal and loss of function (PMIDs: 16247010, 25067791, 30523342, 35927969, 38641551). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03384.; Changed publications to: 32315675, 35477117, 35927969, 34890115, 25067791, 16247010, 26546739, 30523342, 24628319, 17785587, 38641551; Changed phenotypes to: OMIM:613989.0, Dyskeratosis Congenita, OMIM:613989, TERT-related dyskeratosis congenita (monoallelic), MONDO:0013521, TERT-related Dyskeratosis congenita, OMIM:613989, Dyskeratosis congenita, autosomal recessive 4, TERT-related dyskeratosis congenita (biallelic)
DDG2P v6.17 TELO2 Achchuthan Shanmugasundram edited their review of gene: TELO2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TELO2-related syndromic intellectual disability disorder are strong, biallelic_autosomal and undetermined (PMIDs: 27132593, 28944240, 36797513). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01733.; Changed publications to: 36797513, 28944240, 27132593; Changed phenotypes to: OMIM:616954.0, TELO2 Syndromic Intellectual Disability Disorder, TELO2-related syndromic intellectual disability disorder, MONDO:0014848
DDG2P v6.17 TDRD7 Achchuthan Shanmugasundram edited their review of gene: TDRD7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TDRD7-related cataract with or without azoospermia are moderate, biallelic_autosomal and loss of function (PMIDs: 21436445, 28418495, 31048812). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01467.; Changed publications to: 21436445, 31048812, 28418495; Changed phenotypes to: TDRD7-related cataract with or without azoospermia, CATARACT CONGENITAL AUTOSOMAL RECESSIVE TYPE 4, OMIM:613887, TDRD7-related cataract with or without azoospermia, OMIM:613887, OMIM:613887.0, MONDO:0013484
DDG2P v6.17 TCEAL1 Achchuthan Shanmugasundram edited their review of gene: TCEAL1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TCEAL1-related neurodevelopmental disorder are moderate, monoallelic_X_hemizygous and undetermined (PMIDs: 36368327, 38200082). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03454.; Changed publications to: 38200082, 36368327; Changed phenotypes to: TCEAL1-related neurodevelopmental disorder, OMIM:301094.0, MONDO:0859085
DDG2P v6.17 TBXAS1 Achchuthan Shanmugasundram edited their review of gene: TBXAS1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TBXAS1-related ghosal hematodiaphyseal syndrome are definitive, biallelic_autosomal and undetermined (PMIDs: 18264100, 33595912, 35395429). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00704.; Changed publications to: 18264100, 33595912, 35395429; Changed phenotypes to: MONDO:0009274, GHOSAL HEMATODIAPHYSEAL SYNDROME, OMIM:231095, TBXAS1-related ghosal hematodiaphyseal syndrome, OMIM:231095.0
DDG2P v6.17 TAF2 Achchuthan Shanmugasundram edited their review of gene: TAF2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TAF2-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01319.; Changed phenotypes to: OMIM:615599.0, TAF2-related intellectual developmental disorder, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER
DDG2P v6.17 TAF13 Achchuthan Shanmugasundram edited their review of gene: TAF13: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TAF13-related intellectual disability and microcephaly are strong, biallelic_autosomal and undetermined (PMID:28257693). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02249.; Changed phenotypes to: MONDO:0044313, TAF13-related intellectual disability and microcephaly, OMIM:617432.0, Autosomal-Recessive Intellectual Disability and Microcephaly
DDG2P v6.17 TACR3 Achchuthan Shanmugasundram edited their review of gene: TACR3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TACR3-related hypogonadotropic hypogonadism are strong, biallelic_autosomal and undetermined (PMID:19079066). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00493.; Changed phenotypes to: HYPOGONADOTROPIC HYPOGONADISM, OMIM:146110, MONDO:0013913, OMIM:614840.0, TACR3-related hypogonadotropic hypogonadism
DDG2P v6.17 TAC3 Achchuthan Shanmugasundram edited their review of gene: TAC3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TAC3-related hypogonadotropic hypogonadism are strong, biallelic_autosomal and undetermined (PMID:19079066). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00444.; Changed phenotypes to: MONDO:0013912, TAC3-related hypogonadotropic hypogonadism, HYPOGONADOTROPIC HYPOGONADISM, OMIM:146110, OMIM:614839.0
DDG2P v6.17 TAB2 Achchuthan Shanmugasundram edited their review of gene: TAB2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TAB2-related nonsyndromic congenital heart disease are definitive, monoallelic_autosomal and undetermined (PMIDs: 20493459, 27479907). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01246.; Changed phenotypes to: OMIM:612863.0, CONGENITAL HEART DISEASE, NONSYNDROMIC, 2, OMIM:612863, TAB2-related nonsyndromic congenital heart disease, MONDO:0013025
DDG2P v6.17 SYT1 Achchuthan Shanmugasundram edited their review of gene: SYT1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SYT1-related intellectual disability are strong, monoallelic_autosomal and undetermined (PMIDs: 25705886, 30107533). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00305.; Changed phenotypes to: INTELLECTUAL DISABILITY, OMIM:616579, OMIM:618218.0, SYT1-related intellectual disability
DDG2P v6.17 SUPT16H Achchuthan Shanmugasundram edited their review of gene: SUPT16H: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SUPT16H-related neurodevelopmental disorder are limited, monoallelic_autosomal and undetermined (PMID:31924697). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03010.; Changed phenotypes to: OMIM:619480.0, MONDO:0859179, SUPT16H-related neurodevelopmental disorder
DDG2P v6.17 SUFU Achchuthan Shanmugasundram edited their review of gene: SUFU: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SUFU-related Joubert syndrome with cranio-facial and skeletal defects are strong, biallelic_autosomal and undetermined (PMID:28965847). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02372. The DDG2P confidence category, allelic requirement and molecular mechanism for SUFU-related Joubert and congenital ocular motor apraxia are strong, monoallelic_autosomal and undetermined (PMIDs: 33024317, 34675124). The cross-cutting modifier is typified by incomplete penetrance. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03224.; Changed phenotypes to: MONDO:0033309, SUFU-related Joubert and congenital ocular motor apraxia, OMIM:617757.0, SUFU-related Joubert syndrome with cranio-facial and skeletal defects, Joubert Syndrome with Cranio-facial and Skeletal Defects
DDG2P v6.17 STT3A Achchuthan Shanmugasundram edited their review of gene: STT3A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for STT3A-related congenital disorder of glycosylation are limited, biallelic_autosomal and undetermined (PMID:23842455). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01064. The DDG2P confidence category, allelic requirement and molecular mechanism for STT3A-related type I congenital disorder of glycosylation with neuromusculoskeletal disease are strong, monoallelic_autosomal and undetermined (PMID:34653363). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03226.; Changed phenotypes to: OMIM:615596.0, MONDO:0859223, STT3A-related congenital disorder of glycosylation, OMIM:619714.0, STT3A-related type I congenital disorder of glycosylation with neuromusculoskeletal disease, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, OMIM:615596
DDG2P v6.17 ST3GAL3 Achchuthan Shanmugasundram edited their review of gene: ST3GAL3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ST3GAL3-related intellectual developmental disorder are strong, biallelic_autosomal and undetermined (PMIDs: 17120046, 21907012). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01455.; Changed phenotypes to: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 12, OMIM:611090, OMIM:611090.0, MONDO:0012612, ST3GAL3-related intellectual developmental disorder
DDG2P v6.17 ST14 Achchuthan Shanmugasundram edited their review of gene: ST14: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ST14-related ichthyosis with hypotrichosis are strong, biallelic_autosomal and undetermined (PMIDs: 17273967, 18445049). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01285.; Changed publications to: 17273967, 18445049; Changed phenotypes to: OMIM:602400.0, MONDO:0011218, ST14-related ichthyosis with hypotrichosis, ICHTHYOSIS AUTOSOMAL RECESSIVE WITH HYPOTRICHOSIS, OMIM:610765
DDG2P v6.17 SRPX2 Achchuthan Shanmugasundram edited their review of gene: SRPX2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SRPX2-related bilateral perisylvian polymicrogyria are limited, monoallelic_X_hemizygous and undetermined (PMID:16497722). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01418.; Changed phenotypes to: SRPX2-related bilateral perisylvian polymicrogyria, OMIM:300388.0, BILATERAL PERISYLVIAN POLYMICROGYRIA, OMIM:300388, MONDO:0010314
DDG2P v6.17 SRP54 Achchuthan Shanmugasundram edited their review of gene: SRP54: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SRP54-related syndromic neutropenia with Shwachman-Diamond-like features are strong, monoallelic_autosomal and undetermined (PMID:28972538). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02416.; Changed phenotypes to: MONDO:0032899, SRP54-related syndromic neutropenia with Shwachman-Diamond-like features, OMIM:618752.0, Syndromic neutropenia with Shwachman-Diamond-like features
DDG2P v6.17 SRCAP Achchuthan Shanmugasundram edited their review of gene: SRCAP: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SRCAP-related Floating-Harbor syndrome are definitive, monoallelic_autosomal and dominant negative (PMIDs: 22265015, 22965468, 23165645, 23621943, 23763483, 24375913, 25433523, 26788936, 30304910, 30425916, 32924116). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00246. The DDG2P confidence category, allelic requirement and molecular mechanism for SRCAP-related neurodevelopmental disorder are strong, monoallelic_autosomal and loss of function (PMIDs: 33909990, 34213696, 37340855). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03152.; Changed publications to: 32924116, 33909990, 26788936, 24375913, 30425916, 22265015, 30304910, 34213696, 22965468, 23165645, 25433523, 23621943, 23763483, 37340855; Changed phenotypes to: MONDO:0007621, SRCAP-related Neurodevelopmental Disorder, SRCAP-related Floating-Harbor syndrome, OMIM:136140.0, SRCAP-related neurodevelopmental disorder, FLOATING-HARBOR SYNDROME, OMIM:136140, MONDO:0859202, OMIM:619595.0
DDG2P v6.17 SPTLC2 Achchuthan Shanmugasundram edited their review of gene: SPTLC2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SPTLC2-related neuropathy, hereditary sensory and autonomic are strong, monoallelic_autosomal and undetermined (PMIDs: 20920666, 23658386, 25567748, 30866134, 31509666). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01537.; Changed publications to: 31509666, 25567748, 23658386, 30866134, 20920666; Changed phenotypes to: MONDO:0013337, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, OMIM:613640, SPTLC2-related neuropathy, hereditary sensory and autonomic, OMIM:613640.0
DDG2P v6.17 SPRY1 Achchuthan Shanmugasundram edited their review of gene: SPRY1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SPRY1-related craniosynostosis with inner ear and renal anomalies are limited, biallelic_autosomal and undetermined (PMID:36543535). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03436.; Changed phenotypes to: SPRY1-related craniosynostosis with inner ear and renal anomalies, SPRY1-associated craniosynostosis with inner ear and renal anomalies
DDG2P v6.17 SPRTN Achchuthan Shanmugasundram edited their review of gene: SPRTN: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SPRTN-related progeria and hepatocellular carcinoma are limited, biallelic_autosomal and undetermined (PMID:25261934). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01584.; Changed publications to: 25261934; Changed phenotypes to: MONDO:0014527, PROGEROID SYNDROME, SPRTN-related progeria and hepatocellular carcinoma, OMIM:616200.0
DDG2P v6.17 SPECC1L Achchuthan Shanmugasundram edited their review of gene: SPECC1L: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SPECC1L-related facial clefting, oblique are strong, monoallelic_autosomal and undetermined (PMIDs: 21703590, 2541274). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01400.; Changed publications to: 2541274, 21703590; Changed phenotypes to: SPECC1L-related facial clefting, oblique, FACIAL CLEFTING, OBLIQUE, 1, OMIM:600251, OMIM:600251.0
DDG2P v6.17 SPAST Achchuthan Shanmugasundram edited their review of gene: SPAST: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SPAST-related developmental disorder are strong, monoallelic_autosomal and undetermined. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02859. The DDG2P confidence category, allelic requirement and molecular mechanism for SPAST-related spastic paraplegia are definitive, monoallelic_autosomal and loss of function (PMIDs: 10610178, 10699187, 11309678, 11843700, 16055926, 18701882, 36452170, 37251230, 37473796, 38145127, 40019011). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03840.; Changed publications to: 16055926, 37251230, 36452170, 11843700, 40019011, 10699187, 18701882, 11309678, 38145127, 10610178, 37473796; Changed phenotypes to: OMIM:182601.0, SPAST-related developmental disorder, MONDO:0700092, SPAST-related developmental disorder (monoallelic), SPAST-related spastic paraplegia, MONDO:0008438
DDG2P v6.17 SPARC Achchuthan Shanmugasundram edited their review of gene: SPARC: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SPARC-related osteogenesis imperfecta are strong, biallelic_autosomal and undetermined (PMID:26027498). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01673.; Changed phenotypes to: SPARC-related osteogenesis imperfecta, OSTEOGENESIS IMPERFECTA, TYPE XVII, OMIM:616507, OMIM:616507.0, MONDO:0014672
DDG2P v6.17 SOX4 Achchuthan Shanmugasundram edited their review of gene: SOX4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SOX4-related neurodevelopmental disease associated with mild dysmorphism are strong, monoallelic_autosomal and undetermined (PMIDs: 30661772, 35232796). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02643.; Changed publications to: 30661772, 35232796; Changed phenotypes to: Neurodevelopmental Disease Associated with Mild Dysmorphism, SOX4-related neurodevelopmental disease associated with mild dysmorphism, OMIM:618506.0, MONDO:0032791
DDG2P v6.17 SOX17 Achchuthan Shanmugasundram edited their review of gene: SOX17: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SOX17-related vesicoureteral reflux are definitive, monoallelic_autosomal and undetermined (PMID:20960469). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00585.; Changed phenotypes to: MONDO:0013356, OMIM:613674.0, VESICOURETERAL REFLUX TYPE 3, OMIM:613674, SOX17-related vesicoureteral reflux
DDG2P v6.17 SOX11 Achchuthan Shanmugasundram edited their review of gene: SOX11: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SOX11-related neurodevelopmental disorder are definitive, monoallelic_autosomal and undetermined (PMIDs: 24886874, 26543203, 35341651). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00338.; Changed phenotypes to: MONDO:0014376, SOX11-related neurodevelopmental disorder, OMIM:615866, SOX11-related neurodevelopmental disorder, OMIM:615866.0
DDG2P v6.17 SOS2 Achchuthan Shanmugasundram edited their review of gene: SOS2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SOS2-related Noonan syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 25795793, 26173643, 32788663). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03139.; Changed phenotypes to: SOS2-related Noonan syndrome, OMIM:616559.0, MONDO:0014691, SOS-2 associated Noonan syndrome, OMIM:616559
DDG2P v6.17 SNRPE Achchuthan Shanmugasundram edited their review of gene: SNRPE: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SNRPE-related hypotrichosis simplex are strong, monoallelic_autosomal and undetermined (PMIDs: 23246290, 33792916, 36814386, 9621144). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00962.; Changed publications to: 36814386, 9621144, 23246290, 33792916; Changed phenotypes to: AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX, OMIM:615059, OMIM:615059.0, MONDO:0014027, SNRPE-related hypotrichosis simplex
DDG2P v6.17 SNIP1 Achchuthan Shanmugasundram edited their review of gene: SNIP1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SNIP1-related symptomatic epilepsy and skull dysplasia are limited, biallelic_autosomal and undetermined (PMID:22279524). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01312.; Changed phenotypes to: SYMPTOMATIC EPILEPSY AND SKULL DYSPLASIA, OMIM:614501, SNIP1-related symptomatic epilepsy and skull dysplasia, OMIM:614501.0
DDG2P v6.17 SNAP25 Achchuthan Shanmugasundram edited their review of gene: SNAP25: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SNAP25-related epilepsy and intellectual disability are definitive, monoallelic_autosomal and loss of function (PMIDs: 29100083, 33299146). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02378.; Changed phenotypes to: OMIM:616330.0, SNAP25-related epilepsy and intellectual disability, Epilepsy and intellectual disability, MONDO:0014590
DDG2P v6.17 SMO Achchuthan Shanmugasundram edited their review of gene: SMO: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SMO-related Curry-Jones syndrome are definitive, monoallelic_autosomal and gain of function (PMIDs: 27236920, 28386950, 31825089). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01746. The DDG2P confidence category, allelic requirement and molecular mechanism for SMO-related developmental disorder are strong, biallelic_autosomal and loss of function (PMID:32413283). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02966.; Changed publications to: 28386950, 32413283, 31825089, 27236920; Changed phenotypes to: Curry-Jones Syndrome, OMIM:601707, SMO-related developmental disorder, SMO-related Curry-Jones syndrome, MONDO:0011134, OMIM:601707.0, OMIM:241800.0, MONDO:0009436
DDG2P v6.17 SMCHD1 Achchuthan Shanmugasundram edited their review of gene: SMCHD1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SMCHD1-related isolated arhinia/Bosma arhinia syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 28067909, 28067911). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01773.; Changed publications to: 28067911, 28067909; Changed phenotypes to: SMCHD1-related isolated arhinia/Bosma arhinia syndrome, MONDO:0011323, Isolated Arhinia/Bosma Arhinia syndrome, OMIM:603457.0
DDG2P v6.17 SMC5 Achchuthan Shanmugasundram edited their review of gene: SMC5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SMC5-related developmental disorder are moderate, biallelic_autosomal and undetermined (PMID:36333305). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03452.; Changed phenotypes to: SMC5-related developmental disorder, OMIM:620185.0, MONDO:0859576
DDG2P v6.17 SMC3 Achchuthan Shanmugasundram edited their review of gene: SMC3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SMC3-related Cornelia de Lange syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 17273969, 20358602, 25125236, 25655089). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00659.; Changed publications to: 17273969, 25655089, 20358602, 25125236; Changed phenotypes to: OMIM:610759.0, SMC3-related Cornelia de Lange syndrome, CORNELIA DE LANGE SYNDROME TYPE 3, OMIM:610759, MONDO:0012555
DDG2P v6.17 SMARCE1 Achchuthan Shanmugasundram edited their review of gene: SMARCE1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SMARCE1-related Coffin Siris are strong, monoallelic_autosomal and undetermined (PMID:22426308). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00174.; Changed phenotypes to: COFFIN SIRIS, OMIM:135900, MONDO:0014838, SMARCE1-related Coffin Siris, OMIM:616938.0
DDG2P v6.17 SMARCD1 Achchuthan Shanmugasundram edited their review of gene: SMARCD1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SMARCD1-related syndromic intellectual disability are moderate, monoallelic_autosomal and undetermined (PMIDs: 30879640, 38114583, 39389935). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02772.; Changed publications to: 39389935, 30879640, 38114583; Changed phenotypes to: SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100, SMARCD1-related syndromic intellectual disability, MONDO:0032912, OMIM:618779.0
DDG2P v6.17 SMARCA2 Achchuthan Shanmugasundram edited their review of gene: SMARCA2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SMARCA2-related Nicolaides-Baraitser syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 22366787, 22426308, 22822383, 25169058, 27665729, 28948053, 31288860, 31813144, 32657847, 32694869, 34296532, 34521483, 35811451). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00849.; Changed publications to: 28948053, 22822383, 32694869, 34296532, 27665729, 22426308, 25169058, 31288860, 32657847, 31813144, 34521483, 35811451, 22366787; Changed phenotypes to: OMIM:601358.0, SMARCA2-related Nicolaides-Baraitser syndrome, MONDO:0011053, SMARCA2-related Nicolaides-Baraitser syndrome, OMIM:601358
DDG2P v6.17 SLF2 Achchuthan Shanmugasundram edited their review of gene: SLF2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLF2-related developmental disorder are moderate, biallelic_autosomal and undetermined (PMID:36333305). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03451.; Changed phenotypes to: MONDO:0859575, SLF2-related developmental disorder, OMIM:620184.0
DDG2P v6.17 SLC9A7 Achchuthan Shanmugasundram edited their review of gene: SLC9A7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC9A7-related intellectual developmental disorder are limited, monoallelic_X_hemizygous and undetermined (PMID:30335141). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03038.; Changed phenotypes to: Intellectual developmental disorder, X-linked 108, OMIM:301024, MONDO:0026723, OMIM:301024.0, SLC9A7-related intellectual developmental disorder
DDG2P v6.17 SLC6A17 Achchuthan Shanmugasundram edited their review of gene: SLC6A17: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC6A17-related intellectual developmental disorder are strong, biallelic_autosomal and undetermined (PMID:25704603). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00656.; Changed phenotypes to: OMIM:616269.0, INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 48, OMIM:616269, SLC6A17-related intellectual developmental disorder, MONDO:0014559
DDG2P v6.17 SLC5A7 Achchuthan Shanmugasundram edited their review of gene: SLC5A7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC5A7-related congenital myasthenic syndrome with episodic apnea are strong, biallelic_autosomal and undetermined (PMID:27569547). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01876.; Changed phenotypes to: SLC5A7-related congenital myasthenic syndrome with episodic apnea, Congenital Myasthenic Syndrome with Episodic Apnea, MONDO:0014939, OMIM:617143.0
DDG2P v6.17 SLC4A1 Achchuthan Shanmugasundram edited their review of gene: SLC4A1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC4A1-related renal tubular acidosis, distal (monoallelic) are strong, monoallelic_autosomal and undetermined (PMIDs: 37775346, 9312167, 9600966). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00171. The DDG2P confidence category, allelic requirement and molecular mechanism for SLC4A1-related renal tubular acidosis, distal (biallelic) are strong, biallelic_autosomal and undetermined (PMIDs: 10926824, 31933135, 9854053). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00185.; Changed publications to: 9600966, 37775346, 31933135, 9312167, 9854053, 10926824; Changed phenotypes to: SLC4A1-related renal tubular acidosis, distal (monoallelic), RENAL TUBULAR ACIDOSIS, DISTAL, AR, OMIM:611590, OMIM:179800.0, SLC4A1-related renal tubular acidosis, distal (biallelic), MONDO:0008368, RENAL TUBULAR ACIDOSIS, DISTAL, AD, OMIM:179800
DDG2P v6.17 SLC45A1 Achchuthan Shanmugasundram edited their review of gene: SLC45A1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC45A1-related intellectual disability and epilepsy are strong, biallelic_autosomal and undetermined (PMID:28434495). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02234.; Changed phenotypes to: MONDO:0044322, OMIM:617532.0, Intellectual disability and epilepsy, SLC45A1-related intellectual disability and epilepsy
DDG2P v6.17 SLC39A8 Achchuthan Shanmugasundram edited their review of gene: SLC39A8: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC39A8-related intellectual disability with cerebellar atrophy are definitive, biallelic_autosomal and undetermined (PMIDs: 26637978, 26637979). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01660.; Changed publications to: 26637979, 26637978; Changed phenotypes to: OMIM:616721.0, Intellectual Disability with Cerebellar Atrophy, SLC39A8-related intellectual disability with cerebellar atrophy, MONDO:0014746
DDG2P v6.17 SLC35B2 Achchuthan Shanmugasundram edited their review of gene: SLC35B2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC35B2-related chondrodysplasia with hypomyelinating leukodystrophy are limited, biallelic_autosomal and undetermined (PMID:35325049). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03411.; Changed phenotypes to: MONDO:0859518, SLC35B2-related chondrodysplasia with hypomyelinating leukodystrophy, OMIM:620269.0
DDG2P v6.17 SLC32A1 Achchuthan Shanmugasundram edited their review of gene: SLC32A1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC32A1-related developmental and epileptic encephalopathy are moderate, monoallelic_autosomal and undetermined (PMIDs: 34038384, 36073542). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03331.; Changed publications to: 36073542, 34038384; Changed phenotypes to: SLC32A1-related developmental and epileptic encephalopathy, MONDO:0958331, OMIM:620774.0, SLC32A1-associated developmental and epileptic encephalopathy
DDG2P v6.17 SLC31A1 Achchuthan Shanmugasundram edited their review of gene: SLC31A1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC31A1-related congenital copper transport disorder are moderate, biallelic_autosomal and undetermined (PMIDs: 21937992, 35913762, 36562171). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01558.; Changed publications to: 21937992, 36562171, 35913762; Changed phenotypes to: SLC31A1-associated congenital copper transport disorder, OMIM:620306.0, MONDO:0957211, SLC31A1-related congenital copper transport disorder
DDG2P v6.17 SLC30A7 Achchuthan Shanmugasundram edited their review of gene: SLC30A7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC30A7-related Joubert syndrome are limited, monoallelic_autosomal and undetermined (PMID:35751429). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03423.; Changed phenotypes to: SLC30A7-related Joubert syndrome, SLC30A7-associated Joubert syndrome, MONDO:0018772
DDG2P v6.17 SLC25A4 Achchuthan Shanmugasundram edited their review of gene: SLC25A4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC25A4-related severe early-onset mitochondrial disease and loss of mitochondrial DNA copy number are strong, monoallelic_autosomal and undetermined (PMIDs: 27693233, 30046662). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01880. The DDG2P confidence category, allelic requirement and molecular mechanism for SLC25A4-related Fontaine progeroid syndrome are strong, monoallelic_autosomal and undetermined (PMID:30329211). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02572.; Changed publications to: 30329211, 27693233, 30046662; Changed phenotypes to: Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number, SLC25A4-related severe early-onset mitochondrial disease and loss of mitochondrial DNA copy number, SLC25A4-related Fontaine progeroid syndrome, MONDO:0014959, Fontaine progeroid syndrome, OMIM:617184.0, MONDO:0012853
DDG2P v6.17 SLC25A24 Achchuthan Shanmugasundram edited their review of gene: SLC25A24: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC25A24-related hypertrichosis, progeroid appearance, and mitochondrial dysfunction (Gorlin-Chaudhry-Moss syndrome ) are definitive, monoallelic_autosomal and undetermined (PMIDs: 29100093, 29100094). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02383.; Changed publications to: 29100093, 29100094; Changed phenotypes to: SLC25A24-related hypertrichosis, progeroid appearance, and mitochondrial dysfunction (Gorlin-Chaudhry-Moss syndrome ), OMIM:612289.0, Gorlin-Chaudhry-Moss syndrome (GCMS), MONDO:0012853, Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
DDG2P v6.17 SLC25A22 Achchuthan Shanmugasundram edited their review of gene: SLC25A22: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC25A22-related epileptic encephalopathy, early infantile are strong, biallelic_autosomal and undetermined (PMIDs: 15592994, 19780765, 24596948, 31279168, 33821742). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00635.; Changed publications to: 33821742, 15592994, 19780765, 31279168, 24596948; Changed phenotypes to: OMIM:609304.0, SLC25A22-related epileptic encephalopathy, early infantile, MONDO:0012245, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3, OMIM:609304
DDG2P v6.17 SLC25A19 Achchuthan Shanmugasundram edited their review of gene: SLC25A19: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC25A19-related Amish lethal microcephaly are strong, biallelic_autosomal and undetermined (PMID:12185364). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00311.; Changed phenotypes to: AMISH LETHAL MICROCEPHALY, OMIM:607196, OMIM:607196.0, SLC25A19-related Amish lethal microcephaly, MONDO:0011790
DDG2P v6.17 SLC1A2 Achchuthan Shanmugasundram edited their review of gene: SLC1A2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC1A2-related epileptic encephalopathy are strong, monoallelic_autosomal and undetermined (PMIDs: 27476654, 28777935). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01865.; Changed phenotypes to: EPILEPTIC ENCEPHALOPATHY, SLC1A2-related epileptic encephalopathy, MONDO:0014916, OMIM:617105.0
DDG2P v6.17 SLC13A1 Achchuthan Shanmugasundram edited their review of gene: SLC13A1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC13A1-related hypersulfaturia and hyposulfatemia are moderate, biallelic_autosomal and loss of function (PMIDs: 36175384, 39925707). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03395.; Changed rating: GREEN; Changed publications to: 39925707, 36175384; Changed phenotypes to: SLC13A1-associated hypersulfaturia and hyposulfatemia, SLC13A1-related hypersulfaturia and hyposulfatemia
DDG2P v6.17 SLC12A9 Achchuthan Shanmugasundram edited their review of gene: SLC12A9: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects are moderate, biallelic_autosomal and loss of function (PMID:38334070). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03558.; Changed phenotypes to: SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects, MONDO:0100038
DDG2P v6.17 SLC12A5 Achchuthan Shanmugasundram edited their review of gene: SLC12A5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC12A5-related epilepsy of infancy with migrating focal seizures are strong, biallelic_autosomal and undetermined (PMIDs: 26333769, 27436767, 28477354). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00696.; Changed publications to: 27436767, 28477354, 26333769; Changed phenotypes to: SLC12A5-related epilepsy of infancy with migrating focal seizures, MONDO:0100025
DDG2P v6.17 SKI Achchuthan Shanmugasundram edited their review of gene: SKI: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SKI-related Shprintzen-Goldberg craniosynostosis syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 23023332, 23103230, 24736733, 33628537). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01276.; Changed publications to: 33628537, 24736733, 23103230, 23023332; Changed phenotypes to: SKI-related Shprintzen-Goldberg craniosynostosis syndrome, SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212, MONDO:0008426, OMIM:182212.0
DDG2P v6.17 SIX6 Achchuthan Shanmugasundram edited their review of gene: SIX6: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SIX6-related microphthalmia, isolated, with cataract are limited, monoallelic_autosomal and undetermined (PMID:15266624). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00986.; Changed phenotypes to: MICROPHTHALMIA, ISOLATED, WITH CATARACT 2, OMIM:212550, SIX6-related microphthalmia, isolated, with cataract, OMIM:212550.0
DDG2P v6.17 SIX5 Achchuthan Shanmugasundram edited their review of gene: SIX5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SIX5-related branchiootorenal syndrome are definitive, monoallelic_autosomal and undetermined (PMID:17357085). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00803.; Changed phenotypes to: BRANCHIOOTORENAL SYNDROME TYPE 2, OMIM:610896, OMIM:610896.0, SIX5-related branchiootorenal syndrome, MONDO:0012575
DDG2P v6.17 SIAH1 Achchuthan Shanmugasundram edited their review of gene: SIAH1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SIAH1-related neurodevelopmental disorder are strong, monoallelic_autosomal and undetermined (PMID:32430360). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02959.; Changed phenotypes to: SIAH1-related neurodevelopmental disorder, MONDO:0859144, OMIM:619314.0, SIAH1-associated neurodevelopmental disorder
DDG2P v6.17 SHOX Achchuthan Shanmugasundram edited their review of gene: SHOX: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SHOX-related Langer mesomelic dysplasia are definitive, monoallelic_X_hemizygous and loss of function (PMIDs: 11889214, 12116254, 17935511, 9590292). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00460. The DDG2P confidence category, allelic requirement and molecular mechanism for SHOX-related Leri-Weill dyschondrosteosis are definitive, monoallelic_X_heterozygous and loss of function (PMIDs: 11030412, 11403039, 15356038, 21712857, 9590293). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01278.; Changed publications to: 9590293, 11030412, 9590292, 17935511, 12116254, 11889214, 11403039, 15356038, 21712857; Changed phenotypes to: OMIM:127300.0, SHOX-related Leri-Weill dyschondrosteosis, LERI-WEILL DYSCHONDROSTEOSIS, OMIM:127300, OMIM:249700.0, LANGER MESOMELIC DYSPLASIA, OMIM:249700, MONDO:0009588, MONDO:0007481, SHOX-related Langer mesomelic dysplasia; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v6.17 SHMT2 Achchuthan Shanmugasundram edited their review of gene: SHMT2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SHMT2-related neurodevelopmental syndrome are strong, biallelic_autosomal and undetermined (PMID:33015733). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03048.; Changed phenotypes to: OMIM:619121.0, MONDO:0030866, SHMT2-related neurodevelopmental syndrome
DDG2P v6.17 SEMA6B Achchuthan Shanmugasundram edited their review of gene: SEMA6B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SEMA6B-related neurodevelopmental disorder are moderate, monoallelic_autosomal and undetermined (PMIDs: 32169168, 33798445, 34017830, 34092044, 34110594, 34218423, 35604360). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02945.; Changed publications to: 32169168, 35604360, 34017830, 34218423, 33798445, 34110594, 34092044; Changed phenotypes to: SEMA6B-related neurodevelopmental disorder, MONDO:0030034, OMIM:618876.0
DDG2P v6.17 SEC61A1 Achchuthan Shanmugasundram edited their review of gene: SEC61A1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SEC61A1-related tubulo-interstitial and glomerulocystic kidney disease with anemia are limited, monoallelic_autosomal and undetermined (PMIDs: 27392076, 33185949, 39976632). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01752.; Changed publications to: 39976632, 27392076, 33185949; Changed phenotypes to: SEC61A1-related tubulo-interstitial and glomerulocystic kidney disease with anemia, Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia, MONDO:0100337, OMIM:617056.0
DDG2P v6.17 SEC23A Achchuthan Shanmugasundram edited their review of gene: SEC23A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SEC23A-related craniolenticulosutural dysplasia are limited, biallelic_autosomal and undetermined (PMID:16980979). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01060.; Changed phenotypes to: SEC23A-related craniolenticulosutural dysplasia, CRANIOLENTICULOSUTURAL DYSPLASIA, OMIM:607812, OMIM:607812.0, MONDO:0011911
DDG2P v6.17 SDHAF1 Achchuthan Shanmugasundram edited their review of gene: SDHAF1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SDHAF1-related mitochondrial complex II deficiency are definitive, biallelic_autosomal and undetermined (PMIDs: 19465911, 22995659). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01012.; Changed publications to: 22995659, 19465911; Changed phenotypes to: MONDO:0030935, OMIM:619166.0, MITOCHONDRIAL COMPLEX II DEFICIENCY, OMIM:252011, SDHAF1-related mitochondrial complex II deficiency
DDG2P v6.17 SDHA Achchuthan Shanmugasundram edited their review of gene: SDHA: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SDHA-related Leigh syndrome are definitive, biallelic_autosomal and undetermined (PMIDs: 16361598, 24781757, 35014173). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01098.; Changed publications to: 16361598, 35014173, 24781757; Changed phenotypes to: MONDO:0100294, LEIGH SYNDROME, OMIM:256000, OMIM:252011.0, SDHA-related Leigh syndrome
DDG2P v6.17 SCN4A Achchuthan Shanmugasundram edited their review of gene: SCN4A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SCN4A-related hypokalemic periodic paralysis are definitive, monoallelic_autosomal and undetermined (PMIDs: 10599760, 10851391, 10944223, 11591859, 16890191). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00228. The DDG2P confidence category, allelic requirement and molecular mechanism for SCN4A-related hyperkalemic periodic paralysis are definitive, monoallelic_autosomal and gain of function (PMIDs: 15596759, 1659668, 1659948). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00392. The DDG2P confidence category, allelic requirement and molecular mechanism for SCN4A-related paramyotonia congenita of von Eulenburg are definitive, monoallelic_autosomal and undetermined (PMIDs: 10369308, 1310898, 1316765, 1338909, 17998485, 18203179, 19015483, 19015492, 8388676, 8580427). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00709.; Changed publications to: 1310898, 10369308, 16890191, 11591859, 19015492, 17998485, 1659668, 10851391, 18203179, 10944223, 19015483, 10599760, 8580427, 1338909, 1316765, 1659948, 15596759, 8388676; Changed phenotypes to: SCN4A-related paramyotonia congenita of von Eulenburg, SCN4A-related hypokalemic periodic paralysis, SCN4A-related hyperkalemic periodic paralysis, OMIM:613345.0, PARAMYOTONIA CONGENITA OF VON EULENBURG, OMIM:168300, HYPOKALEMIC PERIODIC PARALYSIS, OMIM:170400, HYPERKALEMIC PERIODIC PARALYSIS TYPE 1, OMIM:170500, OMIM:170500.0, MONDO:0013234, MONDO:0008224, OMIM:168300.0, MONDO:0008195
DDG2P v6.17 SCN3A Achchuthan Shanmugasundram edited their review of gene: SCN3A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SCN3A-related focal epilepsy are strong, monoallelic_autosomal and undetermined (PMIDs: 18242854, 24157691). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01652.; Changed phenotypes to: SCN3A-related focal epilepsy, OMIM:617935.0, MONDO:0054776, Focal epilepsy
DDG2P v6.17 SCN1B Achchuthan Shanmugasundram edited their review of gene: SCN1B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SCN1B-related generalized epilepsy with febrile seizures plus or temporal lobe epilepsy are definitive, monoallelic_autosomal and undetermined (PMIDs: 12011299, 14504340, 17020904, 19522081, 21040232, 27277800, 29992740, 30660056, 36291443, 9697698). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01480. The DDG2P confidence category, allelic requirement and molecular mechanism for SCN1B-related developmental and epileptic encephalopathy are definitive, biallelic_autosomal and undetermined non-loss-of-function (PMIDs: 19710327, 23148524, 28218389, 31465153, 31709768, 33901312). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03722.; Changed publications to: 12011299, 36291443, 21040232, 33901312, 31465153, 23148524, 19522081, 17020904, 9697698, 31709768, 28218389, 14504340, 29992740, 30660056, 18464934, 27277800, 19710327; Changed phenotypes to: SCN1B-related developmental and epileptic encephalopathy, MONDO:0033361, SCN1B-related generalized epilepsy with febrile seizures plus or temporal lobe epilepsy, MONDO:0011416, BRUGADA SYNDROME 5, OMIM:612838, OMIM:604233.0, OMIM:617350.0; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v6.17 SC5D Achchuthan Shanmugasundram edited their review of gene: SC5D: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SC5D-related lathosterolosis are definitive, biallelic_autosomal and undetermined (PMIDs: 12189593, 12812989). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00878.; Changed phenotypes to: MONDO:0011816, SC5D-related lathosterolosis, LATHOSTEROLOSIS, OMIM:607330, OMIM:607330.0
DDG2P v6.17 SASS6 Achchuthan Shanmugasundram edited their review of gene: SASS6: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SASS6-related severe microcephaly with brain abnormalities are moderate, biallelic_autosomal and undetermined (PMIDs: 24951542, 30639237, 36739862, 38501757). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03564.; Changed publications to: 24951542, 38501757, 36739862, 30639237; Changed phenotypes to: MONDO:0014623, SASS6-related severe microcephaly with brain abnormalities, OMIM:616402.0
DDG2P v6.17 SART3 Achchuthan Shanmugasundram edited their review of gene: SART3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SART3-related neurodevelopmental disorder with 46,XY gonadal dysgenesis (INDYGON) are moderate, biallelic_autosomal and loss of function (PMID:37296101). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03514.; Changed phenotypes to: MONDO:0100038, SART3-related neurodevelopmental disorder with 46,XY gonadal dysgenesis (INDYGON)
DDG2P v6.17 SARS2 Achchuthan Shanmugasundram edited their review of gene: SARS2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SARS2-related hyperuricemia, pulmonary hypertension, renal failure and alkalosis are strong, biallelic_autosomal and undetermined (PMIDs: 21255763, 24034276, 33751860). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03113.; Changed phenotypes to: SARS2-related hyperuricemia, pulmonary hypertension, renal failure and alkalosis, OMIM:613845, SARS2-related hyperuricemia, pulmonary hypertension, renal failure and alkalosis, OMIM:613845.0, MONDO:0013458
DDG2P v6.17 SARS Achchuthan Shanmugasundram edited their review of gene: SARS: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures are moderate, biallelic_autosomal and undetermined (PMIDs: 28236339, 34570399). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03234. The DDG2P confidence category, allelic requirement and molecular mechanism for SARS1-related neurodevelopmental disorder are limited, monoallelic_autosomal and dominant negative (PMID:36041817). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03434.; Changed phenotypes to: OMIM:617709.0, MONDO:0060577, SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, Autosomal dominant SARS1-related neurodevelopmental disorder, MONDO:0700092, SARS1-related neurodevelopmental disorder, SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709
DDG2P v6.17 SAMD9L Achchuthan Shanmugasundram edited their review of gene: SAMD9L: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SAMD9L-related ataxia-pancytopenia syndrome are limited, monoallelic_autosomal and undetermined (PMID:27259050). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01741.; Changed phenotypes to: Ataxia-Pancytopenia Syndrome, OMIM:159550, OMIM:159550.0, MONDO:0008038, SAMD9L-related ataxia-pancytopenia syndrome
DDG2P v6.17 RYR2 Achchuthan Shanmugasundram edited their review of gene: RYR2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RYR2-related catecholaminergic polymorphic ventricular tachycardia and intellectual disability are limited, monoallelic_autosomal and undetermined (PMIDs: 11157710, 15544013, 15544015, 15720454, 16084945, 16188589, 16272262, 17875969, 19781797, 19926015, 21126784, 21652165, 22222782, 22334434, 22519458, 30170228). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03201.; Changed publications to: 16188589, 30170228, 15544013, 16084945, 22222782, 15544015, 22334434, 19926015, 15720454, 17875969, 19781797, 21126784, 16272262, 21652165, 22519458, 11157710; Changed phenotypes to: RYR2-related catecholaminergic polymorphic ventricular tachycardia and intellectual disability, RYR2-related Catecholaminergic polymorphic ventricular tachycardia and intellectual disability
DDG2P v6.17 RUBCN Achchuthan Shanmugasundram edited their review of gene: RUBCN: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RUBCN-related syndromic intellectual disability with ataxia, dysarthria and epilepsy are limited, biallelic_autosomal and undetermined (PMIDs: 20826435, 32450808). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00613.; Changed publications to: 32450808, 20826435; Changed phenotypes to: OMIM:615705.0, RUBCN-related syndromic intellectual disability with ataxia, dysarthria and epilepsy, SYNDROMIC MR WITH ATAXIA, DYSARTHRIA AND EPILEPSY, MONDO:0014311
DDG2P v6.17 RTTN Achchuthan Shanmugasundram edited their review of gene: RTTN: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RTTN-related bilateral diffuse polymicrogyria are definitive, biallelic_autosomal and undetermined (PMIDs: 22939636, 26608784, 29883675). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01577.; Changed phenotypes to: RTTN-related bilateral diffuse polymicrogyria, MONDO:0018764, BILATERAL DIFFUSE POLYMICROGYRIA, OMIM:614833, OMIM:614833.0
DDG2P v6.17 RTEL1 Achchuthan Shanmugasundram edited their review of gene: RTEL1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RTEL1-related dyskeratosis congenita are moderate, monoallelic_autosomal and loss of function (PMIDs: 23329068, 23453664). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03361. The DDG2P confidence category, allelic requirement and molecular mechanism for RTEL1-related dyskeratosis congenita are definitive, biallelic_autosomal and loss of function (PMIDs: 23329068, 23453664, 23591994, 23959892). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03386.; Changed publications to: 23453664, 23959892, 23329068, 23591994; Changed phenotypes to: OMIM:615190.0, RTEL1-related dyskeratosis congenita, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, OMIM:615190, MONDO:0014076; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v6.17 RRM1 Achchuthan Shanmugasundram edited their review of gene: RRM1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RRM1-related mitochondrial DNA depletion/deletions syndrome are limited, biallelic_autosomal and undetermined (PMID:35617047). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03370. The DDG2P confidence category, allelic requirement and molecular mechanism for RRM1-related mitochondrial DNA depletion/deletions syndrome are limited, monoallelic_autosomal and undetermined (PMID:35617047). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03371.; Changed phenotypes to: MONDO:0957993, RRM1-related mitochondrial DNA depletion/deletions syndrome, OMIM:620647.0
DDG2P v6.17 RPS23 Achchuthan Shanmugasundram edited their review of gene: RPS23: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RPS23-related microcephaly, hearing loss, and dysmorphic features are strong, monoallelic_autosomal and undetermined (PMID:28257692). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02247.; Changed phenotypes to: RPS23-related microcephaly, hearing loss, and dysmorphic features, Microcephaly, hearing loss, and dysmorphic features, OMIM:617412.0, MONDO:0044311
DDG2P v6.17 RPL13 Achchuthan Shanmugasundram edited their review of gene: RPL13: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RPL13-related spondyloepimetaphyseal dysplasia with severe short stature are limited, monoallelic_autosomal and undetermined (PMID:31630789). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02835.; Changed phenotypes to: Spondyloepimetaphyseal Dysplasia with Severe Short Stature, OMIM:618728.0, RPL13-related spondyloepimetaphyseal dysplasia with severe short stature, MONDO:0032885
DDG2P v6.17 RPL10 Achchuthan Shanmugasundram edited their review of gene: RPL10: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RPL10-related syndromic intellectual developmental disorder are definitive, monoallelic_X_hemizygous and undetermined (PMIDs: 25316788, 25846674, 26290468, 29066376, 35876338). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03002.; Changed publications to: 26290468, 35876338, 25846674, 29066376, 25316788; Changed phenotypes to: RPL10-related syndromic intellectual developmental disorder, MONDO:0030908, INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 35, OMIM:300998, OMIM:300998.0
DDG2P v6.17 RNU4ATAC Achchuthan Shanmugasundram edited their review of gene: RNU4ATAC: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RNU4ATAC-related microcephalic osteodysplastic primordial dwarfism are definitive, biallelic_autosomal and undetermined (PMIDs: 17666473, 21474760, 21474761, 22581640). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00669.; Changed publications to: 21474760, 21474761, 22581640, 17666473; Changed phenotypes to: OMIM:210710.0, RNU4ATAC-related microcephalic osteodysplastic primordial dwarfism, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I, OMIM:210710, MONDO:0008871
DDG2P v6.17 RNU4-2 Achchuthan Shanmugasundram edited their review of gene: RNU4-2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RNU4-2 related neurodevelopmental disorder with microcephaly and seizures (ReNU syndrome) are strong, monoallelic_autosomal and loss of function (PMIDs: 38821540, 38991538, 39369315, 39434505, 40011755, 40379786). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03537.; Changed publications to: 38991538, 39369315, 40011755, 39434505, 38821540, 40379786; Changed phenotypes to: RNU4-2 related neurodevelopmental disorder with microcephaly and seizures (ReNU syndrome), OMIM:620851.0, MONDO:0971172, RNU4-2 related neurodevelopmental disorder with microcephaly and seizures
DDG2P v6.17 RNU12 Achchuthan Shanmugasundram edited their review of gene: RNU12: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RNU12-related CDAGS syndrome are limited, biallelic_autosomal and undetermined (PMIDs: 27863452, 34085356). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03197.; Changed publications to: 34085356, 27863452; Changed phenotypes to: MONDO:0011287, RNU12-related CDAGS syndrome, OMIM:603116.0
DDG2P v6.17 RNF125 Achchuthan Shanmugasundram edited their review of gene: RNF125: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RNF125-related intellectual disability and macrocephaly are limited, monoallelic_autosomal and undetermined (PMIDs: 25196541, 34196401). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03221.; Changed phenotypes to: RNF125-related intellectual disability and macrocephaly, OMIM:616260, OMIM:616260.0, RNF125-related intellectual disability and macrocephaly, MONDO:0014553
DDG2P v6.17 RMND1 Achchuthan Shanmugasundram edited their review of gene: RMND1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RMND1-related encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect are strong, biallelic_autosomal and undetermined (PMID:23022099). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00870.; Changed phenotypes to: ENCEPHALOPATHY ASSOCIATED WITH MULTIPLE OXIDATIVE PHOSPHORYLATION COMPLEX DEFICIENCIES AND A MITOCHONDRIAL TRANSLATION DEFECT, OMIM:614922, MONDO:0013969, RMND1-related encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect, OMIM:614922.0
DDG2P v6.17 RLIM Achchuthan Shanmugasundram edited their review of gene: RLIM: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RLIM-related intellectual disability are strong, monoallelic_X_hemizygous and undetermined (PMID:25644381). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02011.; Changed phenotypes to: RLIM-related intellectual disability, OMIM:300978.0, INTELLECTUAL DISABILITY, OMIM:616579, MONDO:0010506
DDG2P v6.17 DDX58 Achchuthan Shanmugasundram edited their review of gene: DDX58: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RIGI-related Singleton-Merten syndrome are limited, monoallelic_autosomal and undetermined (PMIDs: 25620203, 30574673). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01163.; Changed publications to: 30574673, 25620203; Changed phenotypes to: RIGI-related Singleton-Merten syndrome, MONDO:0014575, SINGLETON-MERTEN SYNDROME, OMIM:182250, OMIM:616298.0
DDG2P v6.17 RHOBTB2 Achchuthan Shanmugasundram edited their review of gene: RHOBTB2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RHOBTB2-related developmental and epileptic encephalopathy are strong, monoallelic_autosomal and undetermined (PMID:29276004). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02589.; Changed phenotypes to: OMIM:618004.0, MONDO:0033373, Developmental and Epileptic Encephalopathy, RHOBTB2-related developmental and epileptic encephalopathy
DDG2P v6.17 REST Achchuthan Shanmugasundram commented on gene: REST: The DDG2P confidence category, allelic requirement and molecular mechanism for REST-related gingival fibromatosis and sensorineural hearing loss are moderate, monoallelic_autosomal and undetermined (PMID:36509837). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03456.
DDG2P v6.17 RBPJ Achchuthan Shanmugasundram edited their review of gene: RBPJ: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RBPJ-related Adams-Oliver syndrome are strong, monoallelic_autosomal and undetermined (PMIDs: 22883147, 28160419). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01131.; Changed publications to: 22883147, 28160419; Changed phenotypes to: OMIM:614814.0, ADAMS OLIVER SYNDROME, MONDO:0013895, RBPJ-related Adams-Oliver syndrome
DDG2P v6.17 RBM28 Achchuthan Shanmugasundram edited their review of gene: RBM28: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RBM28-related alopecia, neurologic defects, and endocrinopathy syndrome are limited, biallelic_autosomal and undetermined (PMID:18439547). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00449.; Changed phenotypes to: RBM28-related alopecia, neurologic defects, and endocrinopathy syndrome, OMIM:612079.0, MONDO:0012794, ALOPECIA NEUROLOGIC DEFECTS AND ENDOCRINOPATHY SYNDROME, OMIM:612079
DDG2P v6.17 RAP1B Achchuthan Shanmugasundram edited their review of gene: RAP1B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RAP1B-related developmental disorder are limited, monoallelic_autosomal and undetermined (PMIDs: 26280580, 32627184). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03053.; Changed publications to: 26280580, 32627184; Changed phenotypes to: OMIM:620654.0, RAP1B-related developmental disorder, MONDO:0958000
DDG2P v6.17 RANBP2 Achchuthan Shanmugasundram edited their review of gene: RANBP2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RANBP2-related acute necrotizing encephalopathy, susceptibility to are limited, monoallelic_autosomal and undetermined (PMID:19118815). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01534.; Changed phenotypes to: RANBP2-related acute necrotizing encephalopathy, susceptibility to, OMIM:608033.0, ACUTE NECROTIZING ENCEPHALOPATHY 1, SUSCEPTIBILITY TO, OMIM:285648, MONDO:0011953
DDG2P v6.17 RALGDS Achchuthan Shanmugasundram edited their review of gene: RALGDS: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RALGDS-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00643.; Changed phenotypes to: MONDO:0700092, RALGDS-related intellectual developmental disorder, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER
DDG2P v6.17 RALA Achchuthan Shanmugasundram edited their review of gene: RALA: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RALA-related neurodevelopmental syndrome are strong, monoallelic_autosomal and undetermined (PMID:30500825). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02934.; Changed phenotypes to: OMIM:619311.0, MONDO:0859142, RALA-related Neurodevelopmental Syndrome, RALA-related neurodevelopmental syndrome
DDG2P v6.17 RAD51C Achchuthan Shanmugasundram edited their review of gene: RAD51C: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RAD51C-related Fanconi anemia are strong, biallelic_autosomal and undetermined (PMID:20400963). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01017.; Changed phenotypes to: RAD51C-related Fanconi anemia, OMIM:613390.0, MONDO:0013248, FANCONI ANEMIA, COMPLEMENTATION GROUP 0, OMIM:613390
DDG2P v6.17 RAC3 Achchuthan Shanmugasundram edited their review of gene: RAC3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RAC3-related neurodevelopment disorder are strong, monoallelic_autosomal and undetermined (PMID:30293988). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02570.; Changed phenotypes to: Neurodevelopment disorder, RAC3-related neurodevelopment disorder, MONDO:0032820, OMIM:618577.0
DDG2P v6.17 RAC1 Achchuthan Shanmugasundram edited their review of gene: RAC1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RAC1-related neurodevelopmental disorder are strong, monoallelic_autosomal and undetermined (PMIDs: 28886345, 35139179). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02367.; Changed phenotypes to: OMIM:617751.0, MONDO:0030913, RAC1-related neurodevelopmental disorder
DDG2P v6.17 RABL6 Achchuthan Shanmugasundram edited their review of gene: RABL6: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RABL6-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00176.; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, MONDO:0700092, RABL6-related intellectual developmental disorder
DDG2P v6.17 RAB34 Achchuthan Shanmugasundram edited their review of gene: RAB34: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RAB34-related orofaciodigital syndrome are moderate, biallelic_autosomal and loss of function (PMIDs: 37384395, 37619988). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03529.; Changed publications to: 37384395, 37619988; Changed phenotypes to: RAB34-related orofaciodigital syndrome, OMIM:620718.0, MONDO:0958230
DDG2P v6.17 RAB14 Achchuthan Shanmugasundram edited their review of gene: RAB14: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RAB14-related developmental disorder are moderate, monoallelic_autosomal and undetermined (PMID:33057194). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02880.; Changed phenotypes to: MONDO:0700092, RAB14-related developmental disorder (monoallelic), RAB14-related developmental disorder
DDG2P v6.17 RAB11B Achchuthan Shanmugasundram edited their review of gene: RAB11B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RAB11B-related intellectual disability are strong, monoallelic_autosomal and undetermined (PMID:29106825). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01972.; Changed phenotypes to: RAB11B-related intellectual disability, OMIM:617807.0, MONDO:0060624, INTELLECTUAL DISABILITY, OMIM:616579
DDG2P v6.17 RAB11A Achchuthan Shanmugasundram edited their review of gene: RAB11A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RAB11A-related epilepsy and intellectual disability are strong, monoallelic_autosomal and undetermined (PMID:29100083). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02376.; Changed phenotypes to: Epilepsy and intellectual disability, MONDO:0700092, RAB11A-related epilepsy and intellectual disability
DDG2P v6.17 QARS Achchuthan Shanmugasundram edited their review of gene: QARS: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for QARS1-related microcephaly, progressive, seizures, and cerebral and cerebellar atrophy are strong, biallelic_autosomal and undetermined (PMID:24656866). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00574.; Changed phenotypes to: MONDO:0014335, OMIM:615760.0, QARS1-related microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, OMIM:615760
DDG2P v6.17 PYCR2 Achchuthan Shanmugasundram edited their review of gene: PYCR2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PYCR2-related postnatal microcephaly, hypomyelination, and reduced cerebral white-matter volume are strong, biallelic_autosomal and undetermined (PMID:25865492). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01573.; Changed phenotypes to: MONDO:0014632, OMIM:616420.0, PYCR2-related postnatal microcephaly, hypomyelination, and reduced cerebral white-matter volume, POSTNATAL MICROCEPHALY, HYPOMYELINATION, AND REDUCED CEREBRAL WHITE-MATTER VOLUME
DDG2P v6.17 PTPN11 Achchuthan Shanmugasundram edited their review of gene: PTPN11: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PTPN11-related Noonan syndrome with multiple lentigines are definitive, monoallelic_autosomal and undetermined (PMIDs: 11992261, 12058348, 12161596, 14634749, 14961557, 14991917, 15121796, 15389709, 15520399, 16172598, 16358218, 16377799, 16679933, 16733669, 17697839, 17875892, 17927788, 19054014, 19659470, 19768645, 19864201, 21365175, 21677813, 21747628, 21910226, 22822385, 23799168, 24790373, 24820750, 25884655, 25917897, 26377839, 27484170, 33354767). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00841. The DDG2P confidence category, allelic requirement and molecular mechanism for PTPN11-related Noonan syndrome are definitive, monoallelic_autosomal and gain of function (PMIDs: 11704759, 11992261, 12161469, 12325025, 12357036, 12522798, 12529711, 12872825, 14974085, 15211660, 15240615, 15248152, 15384080, 15521065, 15889278, 15929108, 15956085, 15985475, 16078230, 16188759, 16358218, 16804314, 17052965, 17184563, 17194341, 17339163, 17361219, 17497712, 17515436, 18348260, 19449407, 19760651, 21269411, 21533187, 23312968, 24739123, 25974318, 30681346). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03310.; Changed publications to: 12325025, 21677813, 24790373, 14991917, 19054014, 17927788, 12161469, 12529711, 15889278, 16804314, 15985475, 17194341, 16679933, 17361219, 16188759, 15929108, 16358218, 15389709, 17339163, 15248152, 26377839, 24820750, 33354767, 21910226, 11704759, 23312968, 25917897, 19659470, 24739123, 11992261, 22822385, 12357036, 14961557, 12872825, 17184563, 12058348, 12161596, 15240615, 15520399, 14634749, 21365175, 15211660, 15521065, 15956085, 25974318, 17697839, 16733669, 19864201, 18348260, 23799168, 15121796, 19449407, 14974085, 21747628, 16172598, 27484170, 17515436, 21269411, 15384080, 12522798, 16078230, 17052965, 17875892, 19760651, 21533187, 30681346, 25884655, 19768645, 16377799, 17497712; Changed phenotypes to: MONDO:0100082, LEOPARD SYNDROME TYPE 1, OMIM:151100, PTPN11-related Noonan syndrome, PTPN11-related Noonan syndrome with multiple lentigines, OMIM:151100.0, MONDO:0008104, NOONAN SYNDROME 1, OMIM:163950
DDG2P v6.17 PTDSS1 Achchuthan Shanmugasundram edited their review of gene: PTDSS1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PTDSS1-related Lenz-Majewski hyperostotic dwarfism are definitive, monoallelic_autosomal and gain of function (PMID:24241535). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00360. The DDG2P confidence category, allelic requirement and molecular mechanism for PTDSS1-related developmental delay are limited, monoallelic_autosomal and undetermined (PMID:35224839). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03416.; Changed phenotypes to: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, OMIM:151050, PTDSS1-related Lenz-Majewski hyperostotic dwarfism, MONDO:0007892, PTDSS1-related developmental delay, Developmental delay, OMIM:151050.0
DDG2P v6.17 PSMC5 Achchuthan Shanmugasundram edited their review of gene: PSMC5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PSMC5-related developmental disorder are moderate, monoallelic_autosomal and undetermined (PMID:33057194). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02898.; Changed phenotypes to: PSMC5-related developmental disorder (monoallelic), MONDO:0700092, PSMC5-related developmental disorder
DDG2P v6.17 PSMC3 Achchuthan Shanmugasundram edited their review of gene: PSMC3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PSMC3-related neurodevelopmental disorder are moderate, monoallelic_autosomal and undetermined (PMID:37256937). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03496.; Changed phenotypes to: MONDO:0700092, PSMC3-related neurodevelopmental disorder
DDG2P v6.17 PSMC1 Achchuthan Shanmugasundram edited their review of gene: PSMC1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PSMC1-related neurodevelopmental disorder are limited, monoallelic_autosomal and undetermined (PMID:35861243). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03337.; Changed phenotypes to: MONDO:0700092, PSMC1-related neurodevelopmental disorder
DDG2P v6.17 PSMB8 Achchuthan Shanmugasundram edited their review of gene: PSMB8: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PSMB8-related Nakajo syndrome are definitive, biallelic_autosomal and loss of function (PMIDs: 21129723, 21852578, 21881205, 21953331, 26524591, 37600812). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00131.; Changed publications to: 26524591, 21129723, 21881205, 37600812, 21852578, 21953331; Changed phenotypes to: NAKAJO SYNDROME, OMIM:256040, OMIM:256040.0, PSMB8-related Nakajo syndrome, MONDO:0054698
DDG2P v6.17 PRRX1 Achchuthan Shanmugasundram edited their review of gene: PRRX1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PRRX1-related agnathia-otocephaly complex are limited, monoallelic_autosomal and dominant negative (PMIDs: 21294718, 22211708, 22674740, 23444262, 37154149). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00249. The DDG2P confidence category, allelic requirement and molecular mechanism for PRRX1-related craniosynostosis are moderate, monoallelic_autosomal and undetermined (PMID:37154149). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02554. The DDG2P confidence category, allelic requirement and molecular mechanism for PRRX1-related agnathia-otocephaly complex are limited, biallelic_autosomal and undetermined (PMIDs: 22211708, 23444262). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02581.; Changed publications to: 22211708, 37154149, 22674740, 21294718, 23444262; Changed phenotypes to: AGNATHIA-OTOCEPHALY COMPLEX monoallelic, MONDO:0008740, AGNATHIA-OTOCEPHALY COMPLEX biallelic, OMIM:202650.0, PRRX1-related craniosynostosis, MONDO:0015469, PRRX1-related agnathia-otocephaly complex
DDG2P v6.17 PRMT9 Achchuthan Shanmugasundram edited their review of gene: PRMT9: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PRMT9-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01462.; Changed phenotypes to: PRMT9-related intellectual developmental disorder, MONDO:0700092, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER
DDG2P v6.17 PRKD1 Achchuthan Shanmugasundram edited their review of gene: PRKD1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PRKD1-related syndromic congenital heart defects are definitive, monoallelic_autosomal and undetermined (PMIDs: 27479907, 32817298, 36308391, 38677542). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01768.; Changed publications to: 27479907, 36308391, 32817298, 38677542; Changed phenotypes to: PRKD1-related syndromic congenital heart defects, Syndromic congenital heart defects, OMIM:617364.0, MONDO:0044303
DDG2P v6.17 PRKAR1B Achchuthan Shanmugasundram commented on gene: PRKAR1B: The DDG2P confidence category, allelic requirement and molecular mechanism for PRKAR1B-related developmental disorder are moderate, monoallelic_autosomal and undetermined (PMIDs: 33057194, 33833410). The cross-cutting modifiers are potential secondary finding and restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03017.
DDG2P v6.17 PRKACB Achchuthan Shanmugasundram edited their review of gene: PRKACB: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PRKACB-related multiple congenital malformation syndrome are strong, monoallelic_autosomal and undetermined (PMID:33058759). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03064.; Changed phenotypes to: MONDO:0030877, OMIM:619143.0, PRKACB-related multiple congenital malformation syndrome, PRKACB-related Multiple Congenital Malformation Syndrome
DDG2P v6.17 PRKACA Achchuthan Shanmugasundram edited their review of gene: PRKACA: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PRKACA-related multiple congenital malformation syndrome are strong, monoallelic_autosomal and undetermined (PMID:33058759). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03063.; Changed phenotypes to: PRKACA-related multiple congenital malformation syndrome, PRKACA-related Multiple Congenital Malformation Syndrome, OMIM:619142.0, MONDO:0030876
DDG2P v6.17 PRDM6 Achchuthan Shanmugasundram edited their review of gene: PRDM6: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PRDM6-related isolated nonsyndromic patent ductus arteriosus are limited, monoallelic_autosomal and undetermined (PMID:27181681). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01739.; Changed phenotypes to: OMIM:617039.0, PRDM6-related isolated nonsyndromic patent ductus arteriosus, MONDO:0024266, Isolated Nonsyndromic Patent Ductus Arteriosus.
DDG2P v6.17 PRDM15 Achchuthan Shanmugasundram commented on gene: PRDM15: The DDG2P confidence category, allelic requirement and molecular mechanism for PRDM15-related renal and neurodevelopmental disorder are limited, biallelic_autosomal and undetermined (PMID:33593823). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03106.
DDG2P v6.17 PPP3CA Achchuthan Shanmugasundram edited their review of gene: PPP3CA: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PPP3CA-related severe neurodevelopmental disease with seizures are strong, monoallelic_autosomal and undetermined (PMID:28942967). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02370.; Changed phenotypes to: MONDO:0700092, Severe Neurodevelopmental Disease with Seizures, PPP3CA-related severe neurodevelopmental disease with seizures
DDG2P v6.17 PPP1CB Achchuthan Shanmugasundram edited their review of gene: PPP1CB: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PPP1CB-related rasopathy with developmental delay, short stature, and sparse slow-growing hair are definitive, monoallelic_autosomal and undetermined (PMID:27264673). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01758.; Changed phenotypes to: MONDO:0054588, Rasopathy with developmental delay, short stature and sparse slow-growing hair, OMIM:617506.0, PPP1CB-related rasopathy with developmental delay, short stature, and sparse slow-growing hair
DDG2P v6.17 PPFIA3 Achchuthan Shanmugasundram edited their review of gene: PPFIA3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PPFIA3-related neurodevelopmental disorder are moderate, monoallelic_autosomal and loss of function (PMID:38181735). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03539.; Changed phenotypes to: Paul-Chao neurodevelopmental syndrome, OMIM:621122, MONDO:1040014, PPFIA3-related neurodevelopmental disorder
DDG2P v6.17 PPA2 Achchuthan Shanmugasundram edited their review of gene: PPA2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PPA2-related sudden arrhythmic cardiac death after infectious or alcohol trigger are definitive, biallelic_autosomal and undetermined (PMIDs: 27523597, 27523598, 34400813). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01771.; Changed publications to: 27523597, 27523598, 34400813; Changed phenotypes to: Sudden arrhythmic cardiac death after infectious or alcohol trigger, PPA2-related sudden arrhythmic cardiac death after infectious or alcohol trigger, OMIM:617223.0, MONDO:0014974
DDG2P v6.17 POU3F3 Achchuthan Shanmugasundram edited their review of gene: POU3F3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for POU3F3-related intellectual disability are definitive, monoallelic_autosomal and undetermined (PMID:31303265). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02759.; Changed phenotypes to: OMIM:618604.0, POU3F3-related intellectual disability, MONDO:0032830, INTELLECTUAL DISABILITY, OMIM:616579
DDG2P v6.17 POT1 Achchuthan Shanmugasundram edited their review of gene: POT1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for POT1-related Coats plus are limited, biallelic_autosomal and undetermined (PMID:27013236). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01756.; Changed phenotypes to: POT1-related Coats plus, MONDO:0957264, Coats Plus, OMIM:620368.0
DDG2P v6.17 POMP Achchuthan Shanmugasundram edited their review of gene: POMP: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for POMP-related keratosis linearis with ichthyosis congenita and sclerosing keratoderma are limited, biallelic_autosomal and undetermined (PMID:20226437). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01501.; Changed phenotypes to: MONDO:0011169, POMP-related keratosis linearis with ichthyosis congenita and sclerosing keratoderma, OMIM:601952.0, KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA, OMIM:601952
DDG2P v6.17 POLR2A Achchuthan Shanmugasundram edited their review of gene: POLR2A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for POLR2A-related syndromic intellectual disability are definitive, monoallelic_autosomal and undetermined (PMIDs: 31353023, 33665635, 35461703). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02762.; Changed publications to: 33665635, 31353023, 35461703; Changed phenotypes to: OMIM:618603.0, MONDO:0032829, POLR2A-related syndromic intellectual disability, SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100
DDG2P v6.17 POLG Achchuthan Shanmugasundram edited their review of gene: POLG: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for POLG-related mitochondrial DNA depletion syndrome, Alpers type are definitive, biallelic_autosomal and undetermined (PMIDs: 15122711, 15929042, 16130100, 32391929). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01327.; Changed publications to: 32391929, 16130100, 15122711, 15929042; Changed phenotypes to: OMIM:203700.0, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A, OMIM:203700, MONDO:0008758, POLG-related mitochondrial DNA depletion syndrome, Alpers type
DDG2P v6.17 POLD1 Achchuthan Shanmugasundram edited their review of gene: POLD1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for POLD1-related subcutaneous lipodystrophy, deafness, mandibular hypoplasia and male hypogonadism are definitive, monoallelic_autosomal and undetermined (PMIDs: 23770608, 26172944, 28521875, 28791128, 29199204, 30023403, 32826474, 36280868). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00218.; Changed publications to: 23770608, 30023403, 28791128, 36280868, 26172944, 32826474, 28521875, 29199204; Changed phenotypes to: OMIM:615381.0, POLD1-related subcutaneous lipodystrophy, deafness, mandibular hypoplasia and male hypogonadism, MONDO:0014157, SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM
DDG2P v6.17 PNPLA1 Achchuthan Shanmugasundram edited their review of gene: PNPLA1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PNPLA1-related congenital ichthyosis are strong, biallelic_autosomal and undetermined (PMIDs: 22246504, 24344921, 26691440, 28403545, 31120544, 31833240, 33786896, 34899144, 36647593). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00829.; Changed publications to: 36647593, 24344921, 26691440, 22246504, 28403545, 34899144, 33786896, 31120544, 31833240; Changed phenotypes to: CONGENITAL ICHTHYOSIS, PNPLA1-related congenital ichthyosis, MONDO:0014011, OMIM:615024.0
DDG2P v6.17 PMPCB Achchuthan Shanmugasundram edited their review of gene: PMPCB: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PMPCB-related neurodegeneration in early childhood are strong, biallelic_autosomal and undetermined (PMID:29576218). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02600.; Changed phenotypes to: OMIM:617954.0, Neurodegeneration in Early Childhood, PMPCB-related neurodegeneration in early childhood, MONDO:0054785
DDG2P v6.17 PLXND1 Achchuthan Shanmugasundram edited their review of gene: PLXND1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PLXND1-related Moebius syndrome are limited, monoallelic_autosomal and undetermined (PMID:26068067). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00327. The DDG2P confidence category, allelic requirement and molecular mechanism for PLXND1-related cardiac malformation syndrome are strong, biallelic_autosomal and undetermined (PMIDs: 24254849, 35396997). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01509.; Changed phenotypes to: PLXND1-related Moebius syndrome, OMIM:157900.0, MONDO:0008006, PLXND1-related cardiac malformation syndrome, MOEBIUS SYNDROME, OMIM:620294.0, MONDO:0859532
DDG2P v6.17 PLCH1 Achchuthan Shanmugasundram edited their review of gene: PLCH1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PLCH1-related holoprosencephaly are limited, biallelic_autosomal and undetermined (PMID:33820834). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03315.; Changed phenotypes to: MONDO:0030886, PLCH1-related holoprosencephaly, HPE-related disorder, OMIM:619895.0
DDG2P v6.17 PLCB4 Achchuthan Shanmugasundram edited their review of gene: PLCB4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PLCB4-related auriculocondylar syndrome are strong, monoallelic_autosomal and undetermined (PMIDs: 22560091, 23315542, 28328130, 35170830). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00070.; Changed publications to: 23315542, 35170830, 28328130, 22560091; Changed phenotypes to: AURICULOCONDYLAR SYNDROME, OMIM:602483, PLCB4-related auriculocondylar syndrome, MONDO:0013845, OMIM:614669.0
DDG2P v6.17 PIP5K1C Achchuthan Shanmugasundram edited their review of gene: PIP5K1C: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PIP5K1C-related lethal congenital contracture syndrome are limited, biallelic_autosomal and undetermined (PMID:17701898). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00274. The DDG2P confidence category, allelic requirement and molecular mechanism for PIP5K1C-related neurodevelopmental disorder are moderate, monoallelic_autosomal and undetermined (PMID:37451268). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03467.; Changed publications to: 37451268, 17701898; Changed phenotypes to: PIP5K1C-related neurodevelopmental disorder, OMIM:611369.0, PIP5K1C-associated neurodevelopmental disorder, MONDO:0012656, MONDO:0700092, PIP5K1C-related lethal congenital contracture syndrome, LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3, OMIM:611369
DDG2P v6.17 PIK3R1 Achchuthan Shanmugasundram edited their review of gene: PIK3R1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PIK3R1-related SHORT syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 23810378, 23810379, 28472977). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00179. The DDG2P confidence category, allelic requirement and molecular mechanism for PIK3R1-related agammaglobulinemia are limited, biallelic_autosomal and loss of function (PMID:22351933). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00858.; Changed publications to: 23810378, 22351933, 28472977, 23810379; Changed phenotypes to: SHORT SYNDROME, OMIM:269880, MONDO:0010026, MONDO:0014083, OMIM:615214.0, OMIM:269880.0, PIK3R1-related SHORT syndrome, AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, OMIM:615214, PIK3R1-related agammaglobulinemia; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 PIGY Achchuthan Shanmugasundram edited their review of gene: PIGY: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PIGY-related glycosylphosphatidylinositol deficiency are strong, biallelic_autosomal and undetermined (PMID:26293662). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01784.; Changed phenotypes to: OMIM:616809.0, MONDO:0014780, Glycosylphosphatidylinositol deficiency, OMIM:610293, PIGY-related glycosylphosphatidylinositol deficiency
DDG2P v6.17 PIGW Achchuthan Shanmugasundram edited their review of gene: PIGW: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PIGW-related hyperphosphatasia with intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:24367057). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01699.; Changed phenotypes to: OMIM:616025.0, PIGW-related hyperphosphatasia with intellectual developmental disorder, HYPERPHOSPHATASIA WITH INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME 5, OMIM:616025
DDG2P v6.17 PIGV Achchuthan Shanmugasundram edited their review of gene: PIGV: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PIGV-related hyperphosphatasia with intellectual developmental disorder are definitive, biallelic_autosomal and loss of function (PMIDs: 17351347, 20802478, 22228761, 33402532, 40799153). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00078.; Changed publications to: 17351347, 33402532, 20802478, 40799153, 22228761; Changed phenotypes to: OMIM:239300.0, HYPERPHOSPHATASIA WITH INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:239300, PIGV-related hyperphosphatasia with intellectual developmental disorder, MONDO:0009398
DDG2P v6.17 PIGU Achchuthan Shanmugasundram edited their review of gene: PIGU: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PIGU-related intellectual disability, central nervous system anomalies and scoliosis are strong, biallelic_autosomal and undetermined (PMID:31353022). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02761.; Changed phenotypes to: OMIM:618590.0, Intellectual Disability, Central Nervous System anomalies and Scoliosis, PIGU-related intellectual disability, central nervous system anomalies and scoliosis, MONDO:0032824
DDG2P v6.17 PIGT Achchuthan Shanmugasundram edited their review of gene: PIGT: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PIGT-related multiple congenital anomalies-hypotonia-seizures syndrome are definitive, biallelic_autosomal and undetermined (PMIDs: 23636107, 24906948). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01110.; Changed publications to: 24906948, 23636107; Changed phenotypes to: PIGT-related multiple congenital anomalies-hypotonia-seizures syndrome, MONDO:0014165, OMIM:615398.0, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, OMIM:615398
DDG2P v6.17 PIGN Achchuthan Shanmugasundram edited their review of gene: PIGN: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PIGN-related multiple congenital anomalies-hypotonia-seizures syndrome are definitive, biallelic_autosomal and loss of function (PMIDs: 21493957, 24253414, 24852103, 26364997, 26394714, 26419326, 27038415, 27300081, 29096607, 29330547, 32585529, 33193741, 33966742, 34051595, 35468813, 35812661, 36322149, 36363484). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01414.; Changed publications to: 29096607, 34051595, 35812661, 27038415, 24253414, 26419326, 26394714, 27300081, 24852103, 35468813, 33966742, 26364997, 36363484, 29330547, 36322149, 21493957, 32585529, 33193741; Changed phenotypes to: PIGN-related multiple congenital anomalies-hypotonia-seizures syndrome, MONDO:0013563, OMIM:614080.0, PIGN-related multiple congenital anomalies-hypotonia-seizures syndrome, OMIM:614080
DDG2P v6.17 PIGM Achchuthan Shanmugasundram edited their review of gene: PIGM: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PIGM-related glycosylphosphatidylinositol deficiency are limited, biallelic_autosomal and undetermined (PMID:16767100). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02424.; Changed phenotypes to: MONDO:0012465, OMIM:610293.0, PIGM-related glycosylphosphatidylinositol deficiency, Glycosylphosphatidylinositol deficiency, OMIM:610293
DDG2P v6.17 PHF5A Achchuthan Shanmugasundram edited their review of gene: PHF5A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PHF5A-related neurodevelopmental disorder with congenital malformations are moderate, monoallelic_autosomal and undetermined (PMIDs: 33811463, 37422718). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03487.; Changed phenotypes to: PHF5A-related neurodevelopmental disorder with congenital malformations, MONDO:0100038
DDG2P v6.17 PHC1 Achchuthan Shanmugasundram edited their review of gene: PHC1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PHC1-related primary microcephaly are limited, biallelic_autosomal and undetermined (PMID:23418308). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00227.; Changed phenotypes to: PHC1-related primary microcephaly, MONDO:0014173, PRIMARY MICROCEPHALY, OMIM:615414, OMIM:615414.0
DDG2P v6.17 PGAP2 Achchuthan Shanmugasundram edited their review of gene: PGAP2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PGAP2-related intellectual disability are definitive, biallelic_autosomal and undetermined (PMIDs: 23561846, 23561847, 29119105). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00290.; Changed publications to: 23561847, 23561846, 29119105; Changed phenotypes to: OMIM:614207.0, PGAP2-related intellectual disability, INTELLECTUAL DISABILITY, OMIM:616579, MONDO:0013628
DDG2P v6.17 PECR Achchuthan Shanmugasundram edited their review of gene: PECR: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PECR-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00315.; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, MONDO:0700092, PECR-related intellectual developmental disorder
DDG2P v6.17 PDSS1 Achchuthan Shanmugasundram edited their review of gene: PDSS1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PDSS1-related coenzyme Q10 deficiency, primary are strong, biallelic_autosomal and undetermined (PMID:17332895). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00213.; Changed phenotypes to: OMIM:614651.0, COENZYME Q10 DEFICIENCY, PRIMARY, 2, OMIM:614651, PDSS1-related coenzyme Q10 deficiency, primary
DDG2P v6.17 PDE10A Achchuthan Shanmugasundram edited their review of gene: PDE10A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PDE10A-related childhood-onset chorea with bilateral striatal lesions are strong, monoallelic_autosomal and undetermined (PMID:27058447). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01729.; Changed phenotypes to: PDE10A-related childhood-onset chorea with bilateral striatal lesions, Childhood-Onset Chorea with Bilateral Striatal Lesions, OMIM:616922.0, MONDO:0014835
DDG2P v6.17 PARP1 Achchuthan Shanmugasundram edited their review of gene: PARP1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PARP1-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00254.; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, MONDO:0700092, PARP1-related intellectual developmental disorder
DDG2P v6.17 PACS2 Achchuthan Shanmugasundram edited their review of gene: PACS2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PACS2-related neurodevelopmental disorder are strong, monoallelic_autosomal and undetermined (PMIDs: 28867141, 30290155). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02368.; Changed publications to: 30290155, 28867141; Changed phenotypes to: Unspecified Neurodevelopmental Disorder, PACS2-related neurodevelopmental disorder, OMIM:618067.0, MONDO:0054845
DDG2P v6.17 PABPC1 Achchuthan Shanmugasundram commented on gene: PABPC1: The DDG2P confidence category, allelic requirement and molecular mechanism for PABPC1-related developmental delay are limited, monoallelic_autosomal and undetermined (PMID:35511136). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03484.
DDG2P v6.17 P4HB Achchuthan Shanmugasundram edited their review of gene: P4HB: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for P4HB-related Cole-Carpenter syndrome are strong, monoallelic_autosomal and undetermined (PMID:25683117). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00895.; Changed phenotypes to: COLE-CARPENTER SYNDROME, OMIM:112240, OMIM:112240.0, MONDO:0007204, P4HB-related Cole-Carpenter syndrome
DDG2P v6.17 OTUD5 Achchuthan Shanmugasundram edited their review of gene: OTUD5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for OTUD5-related neurodevelopmental disorder are strong, monoallelic_X_hemizygous and undetermined (PMIDs: 33131077, 33523931, 33748114). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03438.; Changed publications to: 33523931, 33748114, 33131077; Changed phenotypes to: OTUD5-related neurodevelopmental disorder, OMIM:301056.0, MONDO:0025351, OTUD5-associated neurodevelopmental disorder
DDG2P v6.17 OSGEP Achchuthan Shanmugasundram edited their review of gene: OSGEP: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for OSGEP-related nephrotic syndrome with primary microcephaly are strong, biallelic_autosomal and undetermined (PMID:28805828). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02386.; Changed phenotypes to: Nephrotic syndrome with primary microcephaly, MONDO:0033007, OSGEP-related nephrotic syndrome with primary microcephaly, OMIM:617729.0
DDG2P v6.17 OGDH Achchuthan Shanmugasundram edited their review of gene: OGDH: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for OGDH-related neurodevelopmental disorder are moderate, biallelic_autosomal and undetermined (PMIDs: 32383294, 36520152). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03200.; Changed publications to: 32383294, 36520152; Changed phenotypes to: MONDO:0008759, OGDH-related neurodevelopmental disorder, OMIM:203740.0
DDG2P v6.17 NUP62 Achchuthan Shanmugasundram edited their review of gene: NUP62: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NUP62-related infantile striatonigral degeneration are strong, biallelic_autosomal and undetermined (PMID:16786527). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00243.; Changed phenotypes to: NUP62-related infantile striatonigral degeneration, INFANTILE STRIATONIGRAL DEGENERATION, OMIM:271930, OMIM:271930.0
DDG2P v6.17 NUP54 Achchuthan Shanmugasundram commented on gene: NUP54: The DDG2P confidence category, allelic requirement and molecular mechanism for NUP54-related early-onset dystonia with striatal lesions are moderate, biallelic_autosomal and undetermined (PMID:36333996). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03415.
DDG2P v6.17 NTRK2 Achchuthan Shanmugasundram edited their review of gene: NTRK2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NTRK2-related epilepsy and intellectual disability are strong, monoallelic_autosomal and undetermined (PMID:29100083). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02374.; Changed phenotypes to: NTRK2-related epilepsy and intellectual disability, OMIM:617830.0, Epilepsy and intellectual disability, MONDO:0033367
DDG2P v6.17 NSUN2 Achchuthan Shanmugasundram edited their review of gene: NSUN2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NSUN2-related intellectual disability are strong, biallelic_autosomal and undetermined (PMIDs: 21063731, 22541559, 22541562, 22577224). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00298.; Changed publications to: 21063731, 22541562, 22541559, 22577224; Changed phenotypes to: NSUN2-related intellectual disability, MONDO:0012613, AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5, OMIM:611091, OMIM:611091.0
DDG2P v6.17 NSMCE3 Achchuthan Shanmugasundram edited their review of gene: NSMCE3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NSMCE3-related distinct DNA breakage syndrome are limited, biallelic_autosomal and undetermined (PMIDs: 27427983, 33741030, 40728043). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01140.; Changed publications to: 40728043, 33741030, 27427983; Changed phenotypes to: NSMCE3-related distinct DNA breakage syndrome, DISTINCT DNA BREAKAGE SYNDROME
DDG2P v6.17 NRXN2 Achchuthan Shanmugasundram edited their review of gene: NRXN2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NRXN2-related autism are limited, monoallelic_autosomal and loss of function (PMIDs: 21424692, 36923655, 38739110). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00534.; Changed publications to: 38739110, 21424692, 36923655; Changed phenotypes to: AUTISM, OMIM:209850, OMIM:209850.0, NRXN2-related autism, MONDO:0005260
DDG2P v6.17 NR1I3 Achchuthan Shanmugasundram edited their review of gene: NR1I3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NR1I3-related intellectual disability are limited, monoallelic_autosomal and undetermined (PMID:22726846). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00508.; Changed publications to: 22726846; Changed phenotypes to: EHMT1-LIKE INTELLECTUAL DISABILITY, NR1I3-related intellectual disability, MONDO:0001071
DDG2P v6.17 NPM1 Achchuthan Shanmugasundram edited their review of gene: NPM1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NPM1-related dyskeratosis congenita are strong, monoallelic_autosomal and undetermined (PMID:31570891). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02813.; Changed phenotypes to: Dyskeratosis Congenita, MONDO:0015780, NPM1-related dyskeratosis congenita
DDG2P v6.17 NOVA2 Achchuthan Shanmugasundram edited their review of gene: NOVA2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NOVA2-related neurodevelopmental disorder are strong, monoallelic_autosomal and undetermined (PMIDs: 32197073, 35607920). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02446.; Changed phenotypes to: Intellectual disability with ataxia/spasticity, NOVA2-related neurodevelopmental disorder, OMIM:618859.0, MONDO:0030024, NOVA2-associated neurodevelopmental disorder
DDG2P v6.17 NOP10 Achchuthan Shanmugasundram edited their review of gene: NOP10: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NOP10-related dyskeratosis congenita are moderate, biallelic_autosomal and loss of function (PMID:17507419). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00165.; Changed phenotypes to: MONDO:0009136, NOP10-related dyskeratosis congenita, OMIM:224230, OMIM:224230.0, NOP10-related dyskeratosis congenita
DDG2P v6.17 NKAP Achchuthan Shanmugasundram edited their review of gene: NKAP: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NKAP-related marfanoid habitus and cognitive impairment are strong, monoallelic_X_hemizygous and undetermined (PMID:31587868). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02830.; Changed phenotypes to: MONDO:0026733, NKAP-related marfanoid habitus and cognitive impairment, Marfanoid Habitus and Cognitive Impairment, OMIM:301039.0
DDG2P v6.17 NHP2 Achchuthan Shanmugasundram edited their review of gene: NHP2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NHP2-related dyskeratosis congenita are moderate, biallelic_autosomal and loss of function (PMIDs: 18523010, 30472699, 31985013, 37440454). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01207.; Changed publications to: 31985013, 18523010, 37440454, 30472699; Changed phenotypes to: NHP2-related dyskeratosis congenita, NHP2-related dyskeratosis congenita, OMIM:613987, MONDO:0009136, OMIM:613987.0
DDG2P v6.17 NFU1 Achchuthan Shanmugasundram edited their review of gene: NFU1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NFU1-related multiple mitochondrial dysfunctions syndrome are definitive, biallelic_autosomal and undetermined (PMIDs: 11156534, 22077971). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00303.; Changed publications to: 22077971, 11156534; Changed phenotypes to: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, OMIM:605711, MONDO:0011582, NFU1-related multiple mitochondrial dysfunctions syndrome, OMIM:605711.0
DDG2P v6.17 NEDD4L Achchuthan Shanmugasundram edited their review of gene: NEDD4L: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NEDD4L-related periventricular nodular heterotopia with intellectual disability, cleft palate, and 2-3 toe syndactyly are strong, monoallelic_autosomal and undetermined (PMIDs: 23934111, 27694961, 28515470). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00563.; Changed publications to: 23934111, 27694961, 28515470; Changed phenotypes to: NEDD4L-related periventricular nodular heterotopia with intellectual disability, cleft palate, and 2-3 toe syndactyly, OMIM:617201.0, MONDO:0014966, Periventricular nodular heterotopia with ID, cleft palate and 2.3 toe syndactyly
DDG2P v6.17 NDUFV2 Achchuthan Shanmugasundram edited their review of gene: NDUFV2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NDUFV2-related mitochondrial complex I deficiency, nuclear are moderate, biallelic_autosomal and undetermined (PMIDs: 12754703, 26008862, 33811136, 34405929). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03314.; Changed publications to: 12754703, 33811136, 26008862, 34405929; Changed phenotypes to: Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229, MONDO:0032612, NDUFV2-related mitochondrial complex I deficiency, nuclear, OMIM:618229.0
DDG2P v6.17 NDUFV1 Achchuthan Shanmugasundram edited their review of gene: NDUFV1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NDUFV1-related mitochondrial complex I deficiency are definitive, biallelic_autosomal and undetermined (PMIDs: 10080174, 11349233, 35482246, 38626668, 39525154, 40207266). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00512.; Changed publications to: 39525154, 11349233, 40207266, 35482246, 10080174, 38626668; Changed phenotypes to: MITOCHONDRIAL COMPLEX I DEFICIENCY, OMIM:252010, NDUFV1-related mitochondrial complex I deficiency, OMIM:618225.0, MONDO:0032609
DDG2P v6.17 NDUFS8 Achchuthan Shanmugasundram edited their review of gene: NDUFS8: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NDUFS8-related mitochondrial respiratory chain complex I deficiency are definitive, biallelic_autosomal and loss of function (PMIDs: 15159508, 22499348, 36101822, 38229652, 9837812). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00224.; Changed publications to: 15159508, 22499348, 38229652, 36101822, 9837812; Changed phenotypes to: MONDO:0032606, NDUFS8-related mitochondrial respiratory chain complex I deficiency, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY, OMIM:252010, OMIM:618222.0
DDG2P v6.17 NDUFA9 Achchuthan Shanmugasundram edited their review of gene: NDUFA9: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NDUFA9-related Leigh syndrome are limited, biallelic_autosomal and undetermined (PMIDs: 22114105, 28671271, 28853723). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01698.; Changed publications to: 22114105, 28671271, 28853723; Changed phenotypes to: NDUFA9-related Leigh syndrome, LEIGH SYNDROME, OMIM:256000, OMIM:256000.0, MONDO:0009723
DDG2P v6.17 NDUFA10 Achchuthan Shanmugasundram edited their review of gene: NDUFA10: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NDUFA10-related Leigh syndrome are strong, biallelic_autosomal and undetermined (PMIDs: 21150889, 26741492, 28247337, 36270260). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01697.; Changed publications to: 28247337, 36270260, 21150889, 26741492; Changed phenotypes to: OMIM:618243.0, NDUFA10-related Leigh syndrome, LEIGH SYNDROME DUP, OMIM:256000, MONDO:0032626
DDG2P v6.17 NDST1 Achchuthan Shanmugasundram edited their review of gene: NDST1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NDST1-related intellectual disability with or without seizures are moderate, biallelic_autosomal and undetermined (PMIDs: 21937992, 25125150, 27620904, 28211985, 28600779, 31164858, 32878022, 38129107). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00677.; Changed publications to: 31164858, 28211985, 32878022, 28600779, 21937992, 38129107, 25125150, 27620904; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, NDST1-related intellectual disability with or without seizures
DDG2P v6.17 NCDN Achchuthan Shanmugasundram edited their review of gene: NCDN: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NCDN-related neurodevelopmental disorder with seizures (biallelic) are limited, biallelic_autosomal and undetermined (PMID:33711248). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03115. The DDG2P confidence category, allelic requirement and molecular mechanism for NCDN-related neurodevelopmental disorder with seizures (monoallelic) are strong, monoallelic_autosomal and undetermined (PMID:33711248). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03116.; Changed phenotypes to: NCDN-related neurodevelopmental disorder with seizures (biallelic), NCDN-associated neurodevelopmental disorder with seizures (monoallelic), MONDO:0859162, NCDN-associated neurodevelopmental disorder with seizures (biallelic), NCDN-related neurodevelopmental disorder with seizures (monoallelic), OMIM:619373.0
DDG2P v6.17 NCAPG2 Achchuthan Shanmugasundram edited their review of gene: NCAPG2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NCAPG2-related severe neurodevelopmental syndrome are strong, biallelic_autosomal and undetermined (PMID:30609410). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02637.; Changed phenotypes to: MONDO:0032764, OMIM:618460.0, Severe Neurodevelopmental Syndrome, NCAPG2-related severe neurodevelopmental syndrome
DDG2P v6.17 NAE1 Achchuthan Shanmugasundram edited their review of gene: NAE1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NAE1-related neurodevelopmental disorder with intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia, and neurodegeneration are moderate, biallelic_autosomal and undetermined (PMID:36608681). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03425.; Changed phenotypes to: OMIM:620210.0, NAE1-associated neurodevelopmental disorder with intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration, NAE1-related neurodevelopmental disorder with intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia, and neurodegeneration, MONDO:0859361
DDG2P v6.17 NAA20 Achchuthan Shanmugasundram edited their review of gene: NAA20: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NAA20-related developmental delay and microcephaly are limited, biallelic_autosomal and undetermined (PMIDs: 34230638, 37191084). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03179.; Changed publications to: 34230638, 37191084; Changed phenotypes to: NAA20-related developmental delay and microcephaly, MONDO:0030533, OMIM:619717.0, NAA20-associated developmental delay and microcephaly
DDG2P v6.17 MYLPF Achchuthan Shanmugasundram edited their review of gene: MYLPF: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MYL11-related arthrogryposis, distal are strong, biallelic_autosomal and undetermined (PMID:32707087). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03032. The DDG2P confidence category, allelic requirement and molecular mechanism for MYL11-related arthrogryposis, distal are limited, monoallelic_autosomal and undetermined (PMID:32707087). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03033.; Changed phenotypes to: MYL11-related arthrogryposis, distal, MYLPF arthrogryposis (biallelic), OMIM:619110.0, MYLPF arthrogryposis (monoallelic), MONDO:0030847
DDG2P v6.17 MYH9 Achchuthan Shanmugasundram edited their review of gene: MYH9: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MYH9-related macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss are definitive, monoallelic_autosomal and loss of function (PMIDs: 10973259, 25077172). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01498.; Changed publications to: 10973259, 25077172; Changed phenotypes to: MYH9-related macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, OMIM:155100, MYH9-related macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, OMIM:155100.0, MONDO:0015912
DDG2P v6.17 MYH6 Achchuthan Shanmugasundram edited their review of gene: MYH6: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MYH6-related atrial septal defect are limited, monoallelic_autosomal and loss of function (PMIDs: 15735645, 20656787, 29505555, 29536580, 29969989, 31638415, 34481090). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00379.; Changed publications to: 15735645, 31638415, 29505555, 29536580, 34481090, 20656787, 29969989; Changed phenotypes to: ATRIAL SEPTAL DEFECT TYPE 3, OMIM:614089, MYH6-related atrial septal defect, OMIM:614089.0, MONDO:0013567
DDG2P v6.17 MYH3 Achchuthan Shanmugasundram edited their review of gene: MYH3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MYH3-related distal arthrogryposis are definitive, monoallelic_autosomal and undetermined (PMIDs: 16642020, 18695058). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01341. The DDG2P confidence category, allelic requirement and molecular mechanism for MYH3-related spondylocarpotarsal synostosis syndrome are strong, biallelic_autosomal and loss of function (PMID:29805041). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02609.; Changed phenotypes to: OMIM:618469.0, MONDO:0020746, OMIM:193700.0, DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700, MYH3-related spondylocarpotarsal synostosis syndrome, Recessive Spondylocarpotarsal Synostosis Syndrome, MYH3-related distal arthrogryposis
DDG2P v6.17 MYH10 Achchuthan Shanmugasundram edited their review of gene: MYH10: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MYH10-related multiple congenital anomalies are moderate, monoallelic_autosomal and dominant negative (PMIDs: 25003005, 25356899, 35980381). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01930.; Changed mode of pathogenicity: Other; Changed publications to: 35980381, 25356899, 25003005; Changed phenotypes to: MYH10-related Multiple congenital anomalies, MYH10-related multiple congenital anomalies, MONDO:0700281
DDG2P v6.17 MTSS1L Achchuthan Shanmugasundram edited their review of gene: MTSS1L: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MTSS2-related syndromic intellectual disability are moderate, monoallelic_autosomal and undetermined (PMID:36067766). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03349.; Changed phenotypes to: MTSS2-related syndromic intellectual disability, MTSS2-associated syndromic intellectual disability, OMIM:620086.0, MONDO:0859303
DDG2P v6.17 MTOR Achchuthan Shanmugasundram edited their review of gene: MTOR: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MTOR-related Smith-Kingsmore syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 23934111, 28892148). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01220.; Changed phenotypes to: MTOR-related Smith-Kingsmore syndrome, OMIM:616638.0, MONDO:0014716, Smith-Kingsmore syndrome, OMIM:616638
DDG2P v6.17 MT-TL1 Achchuthan Shanmugasundram edited their review of gene: MT-TL1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MT-TL1-related mitochondrial disorder are limited, mitochondrial and undetermined (PMID:34075211). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03132.; Changed phenotypes to: MONDO:0044970, MT-TL1-related mitochondrial disorder, MT-TL1-associated mitochondrial disorder
DDG2P v6.17 MSI1 Achchuthan Shanmugasundram edited their review of gene: MSI1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MSI1-related microcephaly are limited, biallelic_autosomal and undetermined (PMID:28572454). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02422.; Changed phenotypes to: MSI1-related microcephaly, MSI1-associated Microcephaly, MONDO:0001149
DDG2P v6.17 MRPS22 Achchuthan Shanmugasundram edited their review of gene: MRPS22: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MRPS22-related combined oxidative phosphorylation deficiency are strong, biallelic_autosomal and undetermined (PMID:17873122). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00122.; Changed phenotypes to: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, OMIM:611719, MRPS22-related combined oxidative phosphorylation deficiency, OMIM:611719.0
DDG2P v6.17 MRPS2 Achchuthan Shanmugasundram edited their review of gene: MRPS2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MRPS2-related sensorineural hearing loss, hypoglycemia and multiple oxphos complex deficiencies are strong, biallelic_autosomal and undetermined (PMID:29576219). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02599.; Changed phenotypes to: MONDO:0054781, Sensorineural Hearing Loss Hypoglycemia and Multiple OXPHOS Complex Deficiencies, OMIM:617950.0, MRPS2-related sensorineural hearing loss, hypoglycemia and multiple oxphos complex deficiencies
DDG2P v6.17 MPZ Achchuthan Shanmugasundram edited their review of gene: MPZ: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MPZ-related neuropathy, congenital hypomyelinating are definitive, monoallelic_autosomal and undetermined (PMIDs: 12953275, 15184631, 26310628, 8816708). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02972.; Changed publications to: 26310628, 15184631, 8816708, 12953275; Changed phenotypes to: OMIM:618184.0, MONDO:0020765, NEUROPATHY, CONGENITAL HYPOMYELINATING, 2, OMIM:618184, MPZ-related neuropathy, congenital hypomyelinating
DDG2P v6.17 MPC2 Achchuthan Shanmugasundram edited their review of gene: MPC2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MPC2-related metabolic disorder are limited, biallelic_autosomal and undetermined (PMID:36417180). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03458.; Changed phenotypes to: MPC2-related metabolic disorder, MONDO:0005066
DDG2P v6.17 MORC2 Achchuthan Shanmugasundram edited their review of gene: MORC2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MORC2-related axonal neuropathy and neurodevelopmental disorder are strong, monoallelic_autosomal and undetermined (PMIDs: 26497905, 26659848, 26912637, 27105897, 27329773, 27794525, 28334961, 28402445, 28771897, 30624633, 32693025, 33762496, 33844363, 34059105, 34189813, 34630290, 34664855, 35332768, 35904125). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01894.; Changed publications to: 33762496, 28771897, 26912637, 27105897, 28334961, 34664855, 28402445, 34189813, 27794525, 30624633, 35332768, 35904125, 26497905, 34059105, 26659848, 34630290, 27329773, 32693025, 33844363; Changed phenotypes to: MORC2 - axonal neuropathy and neurodevelopmental disorder, OMIM:619090.0, MORC2-related axonal neuropathy and neurodevelopmental disorder, MONDO:0030835
DDG2P v6.17 MOGS Achchuthan Shanmugasundram edited their review of gene: MOGS: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MOGS-related congenital disorder of glycosylation are strong, biallelic_autosomal and undetermined (PMIDs: 10788335, 24716661, 35790351). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00017.; Changed publications to: 10788335, 35790351, 24716661; Changed phenotypes to: MOGS-related congenital disorder of glycosylation, OMIM:606056.0, CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379, MONDO:0011629
DDG2P v6.17 MMP14 Achchuthan Shanmugasundram edited their review of gene: MMP14: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MMP14-related Winchester syndrome are limited, biallelic_autosomal and undetermined (PMID:22922033). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01317.; Changed phenotypes to: OMIM:277950.0, MMP14-related Winchester syndrome, MONDO:0010201, WINCHESTER SYNDROME, OMIM:277950
DDG2P v6.17 MMP13 Achchuthan Shanmugasundram edited their review of gene: MMP13: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MMP13-related spondyloepimetaphyseal dysplasia, Missouri type are definitive, monoallelic_autosomal and undetermined (PMIDs: 19615667, 8412645). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00762. The DDG2P confidence category, allelic requirement and molecular mechanism for MMP13-related metaphyseal anadysplasia are definitive, biallelic_autosomal and undetermined (PMIDs: 19615667, 8412645). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01239.; Changed publications to: 19615667, 8412645; Changed phenotypes to: MMP13-related metaphyseal anadysplasia, METAPHYSEAL ANADYSPLASIA TYPE 1, OMIM:602111, OMIM:250400.0, MONDO:0009597, SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE, OMIM:602111, OMIM:602111.0, MMP13-related spondyloepimetaphyseal dysplasia, Missouri type, MONDO:0011198
DDG2P v6.17 MMGT1 Achchuthan Shanmugasundram commented on gene: MMGT1: The DDG2P confidence category, allelic requirement and molecular mechanism for MMGT1-related developmental disorder are moderate, monoallelic_X_hemizygous and undetermined (PMID:33057194). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03016.
DDG2P v6.17 MIR184 Achchuthan Shanmugasundram edited their review of gene: MIR184: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MIR184-related keratoconus with cataract (EDICT syndrome) are definitive, monoallelic_autosomal and undetermined (PMIDs: 21996275, 23833072, 24138095, 25373792, 27195078). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01111.; Changed rating: GREEN; Changed publications to: 27195078, 21996275, 25373792, 24138095, 23833072; Changed phenotypes to: MONDO:0013678, KERATOCONUS WITH CATARACT, EDICT SYNDROME, OMIM:614303, OMIM:614303.0, MIR184-related keratoconus with cataract (EDICT syndrome)
DDG2P v6.17 MFSD2A Achchuthan Shanmugasundram edited their review of gene: MFSD2A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MFSD2A-related primary microcephaly are definitive, biallelic_autosomal and undetermined (PMID:26005865). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01689.; Changed phenotypes to: MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE, OMIM:616486, OMIM:616486.0, MFSD2A-related primary microcephaly
DDG2P v6.17 MFN2 Achchuthan Shanmugasundram commented on gene: MFN2: The DDG2P confidence category, allelic requirement and molecular mechanism for MFN2-related developmental disorder are moderate, monoallelic_autosomal and undetermined (PMID:33057194). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03015.
DDG2P v6.17 MED25 Achchuthan Shanmugasundram edited their review of gene: MED25: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MED25-related Basel-Vanagaite-Smirin-Yosef syndrome are definitive, biallelic_autosomal and undetermined (PMIDs: 25527630, 25792360, 31602195, 32324310). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02957.; Changed publications to: 25792360, 25527630, 31602195, 32324310; Changed phenotypes to: MONDO:0014643, MED25-related Basel-Vanagaite-Smirin-Yosef syndrome, Basel-Vanagaite-Smirin-Yosef Syndrome, OMIM:616449, OMIM:616449.0
DDG2P v6.17 MED23 Achchuthan Shanmugasundram edited their review of gene: MED23: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MED23-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMIDs: 21868677, 25845469, 30847200, 31164858). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00707.; Changed publications to: 31164858, 25845469, 30847200, 21868677; Changed phenotypes to: MED23-related intellectual developmental disorder, MONDO:0013651, INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 18, OMIM:614249, OMIM:614249.0
DDG2P v6.17 MED17 Achchuthan Shanmugasundram edited their review of gene: MED17: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MED17-related microcephaly, postnatal progressive, with seizures and brain atrophy are strong, biallelic_autosomal and undetermined (PMID:20950787). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00395.; Changed phenotypes to: MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, OMIM:613668, MONDO:0013351, MED17-related microcephaly, postnatal progressive, with seizures and brain atrophy, OMIM:613668.0
DDG2P v6.17 MED12 Achchuthan Shanmugasundram edited their review of gene: MED12: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MED12-related Opitz-Kaveggia syndrome are definitive, monoallelic_X_hemizygous and undetermined (PMIDs: 17334363, 18973276, 20507344, 24039113, 26273451, 27081531, 27286923, 27312080). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00747. The DDG2P confidence category, allelic requirement and molecular mechanism for MED12-related Lujan-Fryns syndrome are definitive, monoallelic_X_hemizygous and undetermined (PMIDs: 17369503, 24123922, 24715367, 27286923, 27312080, 27500536, 27980443, 28544239, 30006928, 31536828, 6711603). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00913. The DDG2P confidence category, allelic requirement and molecular mechanism for MED12-related developmental disorder are definitive, monoallelic_X_heterozygous and loss of function (PMIDs: 33244165, 33244166, 35385210). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03071.; Changed publications to: 17369503, 35385210, 27980443, 18973276, 20507344, 27286923, 24039113, 30006928, 6711603, 27312080, 33244166, 27500536, 24715367, 24123922, 28544239, 33244165, 27081531, 17334363, 31536828, 26273451; Changed phenotypes to: OMIM:305450.0, LUJAN-FRYNS SYNDROME, OMIM:309520, OMIM:309520.0, OPITZ-KAVEGGIA SYNDROME, OMIM:305450, MED12-related Lujan-Fryns syndrome, MONDO:0700092, MED12-related developmental disorder, MED12-related Opitz-Kaveggia syndrome
DDG2P v6.17 MED11 Achchuthan Shanmugasundram edited their review of gene: MED11: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MED11-related neurodevelopmental disorder are moderate, biallelic_autosomal and undetermined (PMID:36001086). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03343.; Changed phenotypes to: MED11-associated neurodevelopmental disorder, MONDO:0957225, OMIM:620327.0, MED11-related neurodevelopmental disorder
DDG2P v6.17 MATN3 Achchuthan Shanmugasundram edited their review of gene: MATN3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MATN3-related multiple epiphyseal dysplasia are definitive, monoallelic_autosomal and undetermined (PMIDs: 11479597, 13849708, 14729835, 15948199). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00889.; Changed publications to: 15948199, 11479597, 13849708, 14729835; Changed phenotypes to: MATN3-related multiple epiphyseal dysplasia, MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5, OMIM:607078, MONDO:0011765, OMIM:607078.0
DDG2P v6.17 MAST1 Achchuthan Shanmugasundram edited their review of gene: MAST1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MAST1-related developmental disorder are strong, monoallelic_autosomal and undetermined (PMIDs: 30449657, 33057194). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02878.; Changed publications to: 33057194, 30449657; Changed phenotypes to: MAST1-related developmental disorder (monoallelic), MONDO:0032648, OMIM:618273.0, MAST1-related developmental disorder
DDG2P v6.17 MAPRE2 Achchuthan Shanmugasundram edited their review of gene: MAPRE2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MAPRE2-related circumferential skin creases, Kunze type are definitive, biallelic_autosomal and undetermined (PMID:26637975). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01655.; Changed phenotypes to: MONDO:0014755, MAPRE2-related circumferential skin creases, Kunze type, Circumferential Skin Creases Kunze Type, OMIM:156610, OMIM:616734.0
DDG2P v6.17 MAP4K4 Achchuthan Shanmugasundram edited their review of gene: MAP4K4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MAP4K4-related neurodevelopmental disorder with or without congenital anomalies are moderate, monoallelic_autosomal and loss of function (PMIDs: 28518170, 36469137, 37126546). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03550. The DDG2P confidence category, allelic requirement and molecular mechanism for MAP4K4-related neurodevelopmental disorder with or without congenital anomalies are moderate, monoallelic_autosomal and dominant negative (PMID:37126546). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03716.; Changed publications to: 28518170, 36469137, 37126546; Changed phenotypes to: MAP4K4-related neurodevelopmental disorder with/without congenital anomalies, MONDO:0100038, MAP4K4-related neurodevelopmental disorder with or without congenital anomalies
DDG2P v6.17 MAP3K7 Achchuthan Shanmugasundram edited their review of gene: MAP3K7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MAP3K7-related frontometaphyseal dysplasia are strong, monoallelic_autosomal and undetermined (PMIDs: 27426733, 27426734). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01776.; Changed publications to: 27426734, 27426733; Changed phenotypes to: MONDO:0014935, OMIM:617137.0, FRONTOMETAPHYSEAL DYSPLASIA, OMIM:617137, MAP3K7-related frontometaphyseal dysplasia
DDG2P v6.17 MAN2A2 Achchuthan Shanmugasundram edited their review of gene: MAN2A2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MAN2A2-related disorder of glycosylation are limited, biallelic_autosomal and undetermined (PMID:36357165). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03421.; Changed phenotypes to: MONDO:0024322, MAN2A2-related disorder of glycosylation
DDG2P v6.17 MAN1B1 Achchuthan Shanmugasundram edited their review of gene: MAN1B1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MAN1B1-related intellectual developmental disorder are definitive, biallelic_autosomal and undetermined (PMIDs: 21763484, 21937992, 24348268, 24566669, 26279649, 26577042). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01138.; Changed publications to: 26279649, 26577042, 24348268, 21937992, 21763484, 24566669; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, MONDO:0013624, MAN1B1-related intellectual developmental disorder, OMIM:614202.0
DDG2P v6.17 MAF Achchuthan Shanmugasundram edited their review of gene: MAF: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MAF-related cataract are definitive, monoallelic_autosomal and undetermined (PMIDs: 11772997, 16470690, 24664492, 29314435, 30659945). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01427. The DDG2P confidence category, allelic requirement and molecular mechanism for MAF-related cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation are definitive, monoallelic_autosomal and undetermined (PMID:25865493). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01853.; Changed publications to: 24664492, 25865493, 29314435, 11772997, 16470690, 30659945; Changed phenotypes to: MAF-related cataract, MONDO:0012437, OMIM:610202.0, MAF-related cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation, OMIM:601088.0, MONDO:0010992, MAF-related cataract, OMIM:610202, MAF-related cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation, OMIM:601088
DDG2P v6.17 MACF1 Achchuthan Shanmugasundram edited their review of gene: MACF1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MACF1-related defects in neuronal migration and axon guidance are strong, monoallelic_autosomal and undetermined (PMID:30471716). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02631.; Changed phenotypes to: Defects in Neuronal Migration and Axon Guidance, MACF1-related defects in neuronal migration and axon guidance, MONDO:0032677, OMIM:618325.0
DDG2P v6.17 LZTR1 Achchuthan Shanmugasundram edited their review of gene: LZTR1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LZTR1-related Noonan syndrome (biallelic) are strong, biallelic_autosomal and undetermined (PMIDs: 29469822, 29959388, 30368668, 31182298, 37936555, 38135892). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02571. The DDG2P confidence category, allelic requirement and molecular mechanism for LZTR1-related Noonan syndrome (monoallelic) are definitive, monoallelic_autosomal and undetermined (PMIDs: 25795793, 30368668, 30664951, 30859559, 31533111, 31825158, 33407364, 35656879, 35840934, 36304179). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02988.; Changed publications to: 38135892, 33407364, 30859559, 35840934, 29959388, 29469822, 35656879, 37936555, 31182298, 36304179, 30368668, 31825158, 25795793, 30664951, 31533111; Changed phenotypes to: MONDO:0014693, NOONAN SYNDROME 10, OMIM:616564, LZTR1-related Noonan syndrome (monoallelic), LZTR1-related Noonan syndrome (biallelic), Noonan syndrome, OMIM:616564.0
DDG2P v6.17 LSM11 Achchuthan Shanmugasundram commented on gene: LSM11: The DDG2P confidence category, allelic requirement and molecular mechanism for LSM11-related Aicardi-Goutieres syndrome are limited, biallelic_autosomal and loss of function (PMID:33230297). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03531.
DDG2P v6.17 LRPAP1 Achchuthan Shanmugasundram edited their review of gene: LRPAP1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LRPAP1-related myopia, extreme are definitive, biallelic_autosomal and loss of function (PMID:23830514). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00056.; Changed rating: GREEN; Changed phenotypes to: MYOPIA 23, AUTOSOMAL RECESSIVE, OMIM:615431, EXTREME MYOPIA, MONDO:0014183, OMIM:615431.0, LRPAP1-related myopia, extreme
DDG2P v6.17 LONP1 Achchuthan Shanmugasundram edited their review of gene: LONP1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LONP1-related CODAS syndrome are strong, biallelic_autosomal and loss of function (PMIDs: 25574826, 25808063, 28148925, 29408517, 30997404, 31169704, 36684615, 36685982). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01139. The DDG2P confidence category, allelic requirement and molecular mechanism for LONP1-related congenital diaphragmatic hernia are limited, monoallelic_autosomal and loss of function (PMID:34547244). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03209.; Changed publications to: 29408517, 28148925, 30997404, 31169704, 36684615, 36685982, 25574826, 25808063, 34547244; Changed phenotypes to: MONDO:0010879, OMIM:600373.0, LONP1-associated congenital diaphragmatic hernia, MONDO:0005711, CODAS SYNDROME, OMIM:600373, LONP1-related CODAS syndrome, LONP1-related congenital diaphragmatic hernia
DDG2P v6.17 LMNB2 Achchuthan Shanmugasundram edited their review of gene: LMNB2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LMNB2-related primary microcephaly are strong, monoallelic_autosomal and undetermined (PMID:33033404). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03056.; Changed phenotypes to: LMNB2-related primary microcephaly, OMIM:619180.0, MONDO:0030929, LMNB2-related Primary Microcephaly
DDG2P v6.17 LMNB1 Achchuthan Shanmugasundram edited their review of gene: LMNB1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LMNB1-related developmental disorder are definitive, monoallelic_autosomal and undetermined (PMIDs: 32910914, 33033404). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03049.; Changed publications to: 33033404, 32910914; Changed phenotypes to: MONDO:0030928, OMIM:619179.0, LMNB1-associated developmental disorder, LMNB1-related developmental disorder
DDG2P v6.17 LMBRD2 Achchuthan Shanmugasundram edited their review of gene: LMBRD2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LMBRD2-related intellectual disability are limited, monoallelic_autosomal and undetermined (PMID:32820033). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03212.; Changed phenotypes to: OMIM:619694.0, LMBRD2-associated intellectual disability, LMBRD2-related intellectual disability, MONDO:0859218
DDG2P v6.17 LIPT2 Achchuthan Shanmugasundram edited their review of gene: LIPT2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LIPT2-related mitochondrial lipoylation defect associated with severe neonatal encephalopathy are strong, biallelic_autosomal and undetermined (PMID:28757203). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02219.; Changed phenotypes to: Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy, MONDO:0060562, OMIM:617668.0, LIPT2-related mitochondrial lipoylation defect associated with severe neonatal encephalopathy
DDG2P v6.17 LIPT1 Achchuthan Shanmugasundram edited their review of gene: LIPT1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LIPT1-related Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase are strong, biallelic_autosomal and undetermined (PMIDs: 24256811, 24341803, 27247813). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02224.; Changed publications to: 24256811, 27247813, 24341803; Changed phenotypes to: MONDO:0014576, LIPT1-related Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase, OMIM:616299.0, Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.
DDG2P v6.17 LIAS Achchuthan Shanmugasundram edited their review of gene: LIAS: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LIAS-related neonatal-onset epilepsy, defective mitochondrial energy metabolism and glycine elevation are strong, biallelic_autosomal and undetermined (PMIDs: 22152680, 26108146). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02223.; Changed phenotypes to: OMIM:614462.0, MONDO:0013762, Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation, LIAS-related neonatal-onset epilepsy, defective mitochondrial energy metabolism and glycine elevation
DDG2P v6.17 LFNG Achchuthan Shanmugasundram edited their review of gene: LFNG: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LFNG-related spondylocostal dysostosis are definitive, biallelic_autosomal and undetermined (PMIDs: 16385447, 22822384, 30531807, 37038048, 38565611). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01136.; Changed publications to: 30531807, 22822384, 37038048, 38565611, 16385447; Changed phenotypes to: LFNG-related spondylocostal dysostosis, MONDO:0012349, SPONDYLOCOSTAL DYSOSTOSIS TYPE 3, OMIM:609813, OMIM:609813.0
DDG2P v6.17 LETM1 Achchuthan Shanmugasundram edited their review of gene: LETM1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LETM1-related neurodevelopmental disorder are moderate, biallelic_autosomal and undetermined (PMID:36055214). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03409.; Changed phenotypes to: OMIM:620089.0, MONDO:0859304, LETM1-related neurodevelopmental disorder
DDG2P v6.17 LEMD2 Achchuthan Shanmugasundram edited their review of gene: LEMD2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LEMD2-related early progeroid syndrome are moderate, monoallelic_autosomal and undetermined (PMIDs: 30905398, 37867468, 38757373). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02782.; Changed publications to: 37867468, 38757373, 30905398; Changed phenotypes to: Nuclear Envelopathy with Early Progeroid Appearance, LEMD2-related early progeroid syndrome, OMIM:619322.0, MONDO:0859147
DDG2P v6.17 LDB3 Achchuthan Shanmugasundram edited their review of gene: LDB3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LDB3-related myopathy myofibrillar are limited, monoallelic_autosomal and undetermined (PMIDs: 15668942, 17337483). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00544.; Changed publications to: 15668942, 17337483; Changed phenotypes to: OMIM:609452.0, MYOPATHY MYOFIBRILLAR TYPE 4, OMIM:609452, MONDO:0012277, LDB3-related myopathy myofibrillar
DDG2P v6.17 LAS1L Achchuthan Shanmugasundram edited their review of gene: LAS1L: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LAS1L-related intellectual disability are limited, monoallelic_X_hemizygous and undetermined (PMIDs: 25644381, 34653234). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02010.; Changed phenotypes to: LAS1L-related intellectual disability, OMIM:309585.0, INTELLECTUAL DISABILITY, OMIM:616579
DDG2P v6.17 LARS2 Achchuthan Shanmugasundram edited their review of gene: LARS2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LARS2-related Perrault syndrome are strong, biallelic_autosomal and undetermined (PMID:23541342). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00856.; Changed phenotypes to: LARS2-related Perrault syndrome, PERRAULT SYNDROME, MONDO:0014126, OMIM:615300.0
DDG2P v6.17 LAGE3 Achchuthan Shanmugasundram edited their review of gene: LAGE3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LAGE3-related Galloway-Mowat syndrome are limited, monoallelic_X_hemizygous and undetermined (PMID:28805828). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02821.; Changed phenotypes to: OMIM:301006.0, GALLOWAY-MOWAT SYNDROME 2, OMIM:301006, MONDO:0033006, LAGE3-related Galloway-Mowat syndrome
DDG2P v6.17 KRT74 Achchuthan Shanmugasundram edited their review of gene: KRT74: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KRT74-related hypotrichosis and/or woolly hair are moderate, monoallelic_autosomal and undetermined (PMIDs: 20346438, 21188418, 24714551). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00610.; Changed publications to: 24714551, 20346438, 21188418; Changed phenotypes to: HYPOTRICHOSIS SIMPLEX OF THE SCALP 2, OMIM:613981, OMIM:613981.0, KRT74-related hypotrichosis and/or woolly hair, MONDO:0013514
DDG2P v6.17 KPNA7 Achchuthan Shanmugasundram edited their review of gene: KPNA7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KPNA7-related Gomez-Lopez-Fernandes syndrome are limited, biallelic_autosomal and undetermined (PMID:24045845). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01769.; Changed phenotypes to: KPNA7-related Gomez-Lopez-Fernandes syndrome, Gomez-Lopez-Fernandes syndrome
DDG2P v6.17 KLHL7 Achchuthan Shanmugasundram edited their review of gene: KLHL7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KLHL7-related PERCHING syndrome (developmental delay, dysmorphism, feeding and respiratory difficulties, hypotonia, and joint contractures) are strong, biallelic_autosomal and loss of function (PMIDs: 27392078, 29074562, 30142437, 30300710, 30997404, 31953236, 35670385, 35699517, 37076692, 38333279). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02566.; Changed publications to: 35670385, 27392078, 31953236, 35699517, 30142437, 29074562, 38333279, 30300710, 30997404, 37076692; Changed phenotypes to: MONDO:0014890, Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa, Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa), OMIM:617055.0, KLHL7-related PERCHING syndrome (developmental delay, dysmorphism, feeding and respiratory difficulties, hypotonia, and joint contractures)
DDG2P v6.17 KLHL20 Achchuthan Shanmugasundram edited their review of gene: KLHL20: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KLHL20-related developmental disorder with seizures are moderate, monoallelic_autosomal and undetermined (PMID:36214804). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03488.; Changed phenotypes to: KLHL20-related developmental disorder with seizures, MONDO:0100038
DDG2P v6.17 KLF7 Achchuthan Shanmugasundram edited their review of gene: KLF7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KLF7-related developmental disorder are definitive, monoallelic_autosomal and undetermined (PMID:29251763). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02987.; Changed phenotypes to: MONDO:0700092, KLF7-related developmental disorder
DDG2P v6.17 KIRREL3 Achchuthan Shanmugasundram edited their review of gene: KIRREL3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KIRREL3-related intellectual developmental disorder are limited, monoallelic_autosomal and undetermined (PMID:19012874). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00765.; Changed phenotypes to: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT TYPE 4, OMIM:612581, KIRREL3-related intellectual developmental disorder, MONDO:0012947, OMIM:612581.0
DDG2P v6.17 KIF5C Achchuthan Shanmugasundram edited their review of gene: KIF5C: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KIF5C-related cortical dysplasia, complex, with other brain malformations are strong, monoallelic_autosomal and undetermined (PMID:23603762). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00729.; Changed phenotypes to: OMIM:615282.0, KIF5C-related cortical dysplasia, complex, with other brain malformations, MONDO:0014116, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, OMIM:615282
DDG2P v6.17 KIF5B Achchuthan Shanmugasundram commented on gene: KIF5B: The DDG2P confidence category, allelic requirement and molecular mechanism for KIF5B-related disease are moderate, monoallelic_autosomal and undetermined (PMIDs: 35342932, 36018820). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03463.
DDG2P v6.17 KIF3B Achchuthan Shanmugasundram edited their review of gene: KIF3B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KIF3B-related ciliopathy are limited, monoallelic_autosomal and undetermined (PMID:32386558). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02969.; Changed phenotypes to: MONDO:0005308, KIF3B-related ciliopathy
DDG2P v6.17 KDM5A Achchuthan Shanmugasundram edited their review of gene: KDM5A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KDM5A-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01352.; Changed phenotypes to: KDM5A-related intellectual developmental disorder, MONDO:0700092, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER
DDG2P v6.17 KDM1A Achchuthan Shanmugasundram edited their review of gene: KDM1A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KDM1A-related developmental delay and distinctive facial features are strong, monoallelic_autosomal and undetermined (PMIDs: 26656649, 29559475). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02308.; Changed publications to: 26656649, 29559475; Changed phenotypes to: MONDO:0014751, OMIM:616728.0, Developmental delay and distinctive facial features, KDM1A-related developmental delay and distinctive facial features
DDG2P v6.17 KCTD1 Achchuthan Shanmugasundram edited their review of gene: KCTD1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KCTD1-related scalp-ear-nipple syndrome are limited, monoallelic_autosomal and gain of function (PMIDs: 23541344, 33000225, 34456244). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00769.; Changed rating: RED; Changed publications to: 23541344, 33000225, 34456244; Changed phenotypes to: KCTD1-related scalp-ear-nipple syndrome, SCALP-EAR-NIPPLE SYNDROME, OMIM:181270, OMIM:181270.0, MONDO:0008404
DDG2P v6.17 KCNT1 Achchuthan Shanmugasundram edited their review of gene: KCNT1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KCNT1-related malignant migrating partial seizures of infancy are definitive, monoallelic_autosomal and gain of function (PMIDs: 23086396, 23086397, 23278465, 24029078, 24120652, 25120433, 26122718, 26140313, 26740507, 26748457, 27081515, 28081520, 28366665, 28987752, 29037447, 29196578, 29291456, 29870100, 30112700, 30525185, 30782581, 30804880, 30847371, 30903923, 31388363, 31560846, 31872048, 31926846, 32883383, 33650128, 34147500, 34567798, 36279596, 36297665, 36746065). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00887. The DDG2P confidence category, allelic requirement and molecular mechanism for KCNT1-related epilepsy are definitive, monoallelic_autosomal and undetermined (PMIDs: 23086396, 23086397). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00927.; Changed publications to: 30525185, 30782581, 30847371, 28987752, 34567798, 31560846, 23278465, 26122718, 24029078, 23086397, 26740507, 29870100, 31926846, 36746065, 26140313, 30903923, 36279596, 34147500, 28366665, 27081515, 28081520, 29037447, 30804880, 23086396, 36297665, 33650128, 25120433, 29291456, 24120652, 29196578, 32883383, 30112700, 31872048, 26748457, 31388363; Changed phenotypes to: OMIM:614959.0, MONDO:0017385, KCNT1-related epilepsy, MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY, SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY, OMIM:614959, MONDO:0013989, KCNT1-related malignant migrating partial seizures of infancy
DDG2P v6.17 KCNQ3 Achchuthan Shanmugasundram edited their review of gene: KCNQ3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KCNQ3-related syndrome are definitive, monoallelic_autosomal and undetermined. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01704.; Changed phenotypes to: MONDO:0700092, KCNQ3 syndrome, KCNQ3-related syndrome
DDG2P v6.17 KCNMA1 Achchuthan Shanmugasundram edited their review of gene: KCNMA1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KCNMA1-related generalized epilepsy and paroxysmal dyskinesia are definitive, monoallelic_autosomal and gain of function (PMIDs: 15937479, 26195193, 28728269, 29330545, 31152168, 31427379, 32132200, 32633875, 33043086, 33178487, 34224328, 34499417, 34563042, 34674900, 35095492, 35141357, 35156297, 35730691, 36127141, 36252966). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00511. The DDG2P confidence category, allelic requirement and molecular mechanism for KCNMA1-related developmental delay, seizures and cerebellar atrophy are strong, biallelic_autosomal and loss of function (PMIDs: 27567911, 29545233, 31152168). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03175.; Changed publications to: 31152168, 15937479, 34563042, 36252966, 34499417, 35095492, 32132200, 33043086, 35156297, 35141357, 32633875, 34224328, 26195193, 34674900, 29545233, 33178487, 28728269, 35730691, 29330545, 31427379, 36127141, 27567911; Changed phenotypes to: KCNMA1-related developmental delay, seizures and cerebellar atrophy, OMIM:609446.0, MONDO:0060551, OMIM:617643.0, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, OMIM:609446, MONDO:0012276, KCNMA1-related generalized epilepsy and paroxysmal dyskinesia
DDG2P v6.17 KCNK3 Achchuthan Shanmugasundram edited their review of gene: KCNK3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KCNK3-related developmental delay with sleep apnea are strong, monoallelic_autosomal and undetermined (PMIDs: 33057194, 36195757). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02892.; Changed phenotypes to: KCNK3-related developmental disorder (monoallelic), KCNK3-associated developmental delay with sleep apnea, KCNK3-related developmental delay with sleep apnea, MONDO:0700360
DDG2P v6.17 KCNJ6 Achchuthan Shanmugasundram edited their review of gene: KCNJ6: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KCNJ6-related Keppen-Lubinsky syndrome are strong, monoallelic_autosomal and undetermined (PMIDs: 25620207, 36071510). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00759.; Changed publications to: 36071510, 25620207; Changed phenotypes to: OMIM:614098.0, KEPPEN-LUBINSKY SYNDROME, OMIM:614098, KCNJ6-related Keppen-Lubinsky syndrome, MONDO:0013572
DDG2P v6.17 KCNH5 Achchuthan Shanmugasundram edited their review of gene: KCNH5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KCNH5-related epilepsy and epileptic encephalopathy are strong, monoallelic_autosomal and undetermined (PMIDs: 23647072, 36307226). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00923.; Changed publications to: 23647072, 36307226; Changed phenotypes to: KCNH5-related epilepsy and epileptic encephalopathy, MONDO:0957812, OMIM:620537.0
DDG2P v6.17 KCNE1 Achchuthan Shanmugasundram edited their review of gene: KCNE1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KCNE1-related Jervell and Lange-Nielsen syndrome are strong, biallelic_autosomal and undetermined (PMIDs: 10973849, 16461811, 19716085, 30461122, 31941373, 9328483, 9354783, 9445165). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00124. The DDG2P confidence category, allelic requirement and molecular mechanism for KCNE1-related long QT syndrome are limited, monoallelic_autosomal and undetermined (PMIDs: 10973849, 31941373, 9354802). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00931.; Changed publications to: 30461122, 19716085, 9354802, 10973849, 9354783, 9328483, 31941373, 16461811, 9445165; Changed phenotypes to: LONG QT SYNDROME-5, OMIM:613695, KCNE1-related long QT syndrome, OMIM:612347.0, MONDO:0013372, JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2, OMIM:612347, MONDO:0012871, KCNE1-related Jervell and Lange-Nielsen syndrome, OMIM:613695.0
DDG2P v6.17 KCND2 Achchuthan Shanmugasundram edited their review of gene: KCND2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KCND2-related neurodevelopmental disorder with or without seizures are moderate, monoallelic_autosomal and undetermined (PMIDs: 24501278, 34245260). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03544.; Changed publications to: 24501278, 34245260; Changed phenotypes to: MONDO:1040003, KCND2-related neurodevelopmental disorder with or without seizures
DDG2P v6.17 KCNC3 Achchuthan Shanmugasundram edited their review of gene: KCNC3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KCNC3-related spinocerebellar ataxia are strong, monoallelic_autosomal and undetermined (PMIDs: 16501573, 25497598, 25981959, 37365508). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00208.; Changed publications to: 16501573, 25497598, 25981959, 37365508; Changed phenotypes to: SPINOCEREBELLAR ATAXIA TYPE 13, OMIM:605259, OMIM:605259.0, MONDO:0011529, KCNC3-related spinocerebellar ataxia
DDG2P v6.17 KCNB1 Achchuthan Shanmugasundram edited their review of gene: KCNB1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KCNB1-related epileptic encephalopathy, early infantile are definitive, monoallelic_autosomal and undetermined (PMID:25164438). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01597.; Changed phenotypes to: KCNB1-related epileptic encephalopathy, early infantile, OMIM:616056.0, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26, OMIM:616056, MONDO:0014477
DDG2P v6.17 KCNA4 Achchuthan Shanmugasundram edited their review of gene: KCNA4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KCNA4-related abnormal striatum, congenital cataract and intellectual disability are limited, biallelic_autosomal and undetermined (PMID:27582084). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02801.; Changed phenotypes to: MONDO:0032656, OMIM:618284.0, KCN4 related abnormal striatum, congenital cataract and intellectual disability., KCNA4-related abnormal striatum, congenital cataract and intellectual disability
DDG2P v6.17 KCNA1 Achchuthan Shanmugasundram edited their review of gene: KCNA1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KCNA1-related epileptic encephalopathy are limited, biallelic_autosomal and undetermined (PMID:31586945). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03173. The DDG2P confidence category, allelic requirement and molecular mechanism for KCNA1-related epileptic encephalopathy are limited, monoallelic_autosomal and undetermined (PMIDs: 19205071, 30055040, 32705822, 33355533, 34778950, 36793218). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03174.; Changed publications to: 34778950, 30055040, 19205071, 33355533, 36793218, 31586945, 32705822; Changed phenotypes to: KCNA1-related epileptic encephalopathy, monoallelic, MONDO:0100062, KCNA1-related epileptic encephalopathy, KCNA1-related epileptic encephalopathy, biallelic
DDG2P v6.17 KBTBD13 Achchuthan Shanmugasundram edited their review of gene: KBTBD13: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KBTBD13-related nemaline myopathy are definitive, monoallelic_autosomal and undetermined (PMIDs: 12805120, 21104864, 21109227). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00067.; Changed publications to: 21104864, 12805120, 21109227; Changed phenotypes to: OMIM:609273.0, KBTBD13-related nemaline myopathy, NEMALINE MYOPATHY 6, OMIM:609273, MONDO:0012237
DDG2P v6.17 KAT5 Achchuthan Shanmugasundram edited their review of gene: KAT5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KAT5-related neurodevelopmental syndrome are strong, monoallelic_autosomal and undetermined (PMID:32822602). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03041.; Changed phenotypes to: OMIM:619103.0, KAT5-related Neurodevelopmental Syndrome, MONDO:0030852, KAT5-related neurodevelopmental syndrome
DDG2P v6.17 ITGA6 Achchuthan Shanmugasundram edited their review of gene: ITGA6: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ITGA6-related epidermolysis bullosa with pyloric atresia are limited, biallelic_autosomal and loss of function (PMID:9185503). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03906.; Changed phenotypes to: EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA, OMIM:226730, MONDO:0859233, ITGA6-related epidermolysis bullosa with pyloric atresia, OMIM:619817.0; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 IRX5 Achchuthan Shanmugasundram edited their review of gene: IRX5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for IRX5-related hypertelorism, severe, with midface prominence, myopia, intellectual developmental disorder, and bone fragility are strong, biallelic_autosomal and undetermined (PMIDs: 22581230, 34899143). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00994.; Changed publications to: 34899143, 22581230; Changed phenotypes to: HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, INTELLECTUAL DEVELOPMENTAL DISORDER, AND BONE FRAGILITY, OMIM:611174, OMIM:611174.0, IRX5-related hypertelorism, severe, with midface prominence, myopia, intellectual developmental disorder, and bone fragility
DDG2P v6.17 IQSEC2 Achchuthan Shanmugasundram edited their review of gene: IQSEC2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for IQSEC2-related intellectual developmental disorder are definitive, monoallelic_X_heterozygous and loss of function (PMIDs: 20473311, 21686261, 23674175, 24306141, 26733290, 26793055, 27665735, 28295038, 28815955, 29026562, 30206421, 30666632, 30842726, 31415821, 31439632, 31490346, 31829726, 32529990, 32564198, 32761587, 33494955, 34484768, 35347702, 35446980, 36012761, 36267700, 36444437, 36684544, 37761403). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00063.; Changed publications to: 33494955, 28815955, 36684544, 30842726, 30666632, 26733290, 34484768, 26793055, 31490346, 30206421, 23674175, 28295038, 32529990, 37761403, 32761587, 36444437, 31415821, 24306141, 27665735, 20473311, 29026562, 31439632, 31829726, 35446980, 21686261, 36012761, 35347702, 32564198, 36267700; Changed phenotypes to: MONDO:0010656, INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 1, OMIM:309530, OMIM:309530.0, IQSEC2-related intellectual developmental disorder
DDG2P v6.17 IQSEC1 Achchuthan Shanmugasundram edited their review of gene: IQSEC1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for IQSEC1-related intellectual disability, developmental delay, and short stature are strong, biallelic_autosomal and undetermined (PMID:31607425). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02832.; Changed phenotypes to: IQSEC1-related intellectual disability, developmental delay, and short stature, OMIM:618687.0, Intellectual Disability, Developmental Delay, and Short Stature, MONDO:0032870
DDG2P v6.17 INTS11 Achchuthan Shanmugasundram edited their review of gene: INTS11: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for INTS11-related neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities are moderate, biallelic_autosomal and loss of function (PMIDs: 37054711, 37980560). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03549.; Changed phenotypes to: MONDO:0957386, INTS11-related neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428, INTS11-related neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428.0
DDG2P v6.17 INPP5K Achchuthan Shanmugasundram edited their review of gene: INPP5K: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for INPP5K-related muscular dystrophy, congenital, with cataracts, and intellectual disability are strong, biallelic_autosomal and undetermined (PMIDs: 28190456, 28190459, 28940338). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01962.; Changed publications to: 28940338, 28190456, 28190459; Changed phenotypes to: INPP5K-related muscular dystrophy, congenital, with cataracts, and intellectual disability, Muscular dystrophy, congenital, with cataracts and intellectual disability, OMIM:617404, OMIM:617404.0, MONDO:0024607
DDG2P v6.17 INPP4A Achchuthan Shanmugasundram edited their review of gene: INPP4A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for INPP4A-related neurodevelopmental disorder with spasticity, epilepsy and cerebellar hypoplasia are moderate, biallelic_autosomal and loss of function (PMIDs: 21937992, 25338135, 31978615, 36653678, 36759255, 39315527). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01556.; Changed rating: GREEN; Changed publications to: 39315527, 36653678, 21937992, 25338135, 36759255, 31978615; Changed phenotypes to: MONDO:0100038, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, INPP4A-related neurodevelopmental disorder with spasticity, epilepsy and cerebellar hypoplasia
DDG2P v6.17 IL11 Achchuthan Shanmugasundram edited their review of gene: IL11: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for IL11-related craniosynostosis are limited, biallelic_autosomal and undetermined (PMID:21741611). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01476.; Changed phenotypes to: IL11-related craniosynostosis, CRANIOSYNOSTOSIS AND DENTAL ANOMALIES, OMIM:614188
DDG2P v6.17 IHH Achchuthan Shanmugasundram edited their review of gene: IHH: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for IHH-related brachydactyly are definitive, monoallelic_autosomal and undetermined (PMIDs: 11455389, 12384778, 12525541, 16871364, 18629882, 19277064). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00942. The DDG2P confidence category, allelic requirement and molecular mechanism for IHH-related acrocapitofemoral dysplasia are definitive, biallelic_autosomal and undetermined (PMID:12632327). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01359.; Changed publications to: 11455389, 12632327, 16871364, 12525541, 18629882, 12384778, 19277064; Changed phenotypes to: MONDO:0011907, MONDO:0007215, BRACHYDACTYLY, TYPE A1, OMIM:112500, ACROCAPITOFEMORAL DYSPLASIA, OMIM:607778, OMIM:607778.0, OMIM:112500.0, IHH-related brachydactyly, IHH-related acrocapitofemoral dysplasia
DDG2P v6.17 IGBP1 Achchuthan Shanmugasundram edited their review of gene: IGBP1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for IGBP1-related agenesis of the corpus callosum with intellectual developmental disorder-ocular coloboma-micrognathia are limited, monoallelic_X_hemizygous and undetermined (PMID:23871722). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01025.; Changed phenotypes to: OMIM:300472.0, MONDO:0010333, IGBP1-related agenesis of the corpus callosum with intellectual developmental disorder-ocular coloboma-micrognathia, AGENESIS OF THE CORPUS CALLOSUM WITH INTELLECTUAL DEVELOPMENTAL DISORDER-OCULAR COLOBOMA-MICROGNATHIA, OMIM:300472
DDG2P v6.17 IFT80 Achchuthan Shanmugasundram edited their review of gene: IFT80: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for IFT80-related asphyxiating thoracic dystrophy are definitive, biallelic_autosomal and undetermined (PMID:17468754). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01252.; Changed phenotypes to: IFT80-related asphyxiating thoracic dystrophy, ASPHYXIATING THORACIC DYSTROPHY 2, OMIM:611263, MONDO:0012644, OMIM:611263.0
DDG2P v6.17 IFT43 Achchuthan Shanmugasundram edited their review of gene: IFT43: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for IFT43-related cranioectodermal dysplasia are definitive, biallelic_autosomal and undetermined (PMID:21378380). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00347.; Changed phenotypes to: OMIM:614099.0, CRANIOECTODERMAL DYSPLASIA TYPE 3, OMIM:614099, IFT43-related cranioectodermal dysplasia, MONDO:0013573
DDG2P v6.17 IFT122 Achchuthan Shanmugasundram edited their review of gene: IFT122: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for IFT122-related cranioectodermal dysplasia are definitive, biallelic_autosomal and undetermined (PMIDs: 17022080, 19760620, 20493458). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00514.; Changed publications to: 19760620, 20493458, 17022080; Changed phenotypes to: IFT122-related cranioectodermal dysplasia, MONDO:0021093, CRANIOECTODERMAL DYSPLASIA, OMIM:218330, OMIM:218330.0
DDG2P v6.17 IFITM5 Achchuthan Shanmugasundram edited their review of gene: IFITM5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for IFITM5-related osteogenesis imperfecta are definitive, monoallelic_autosomal and undetermined (PMIDs: 22863190, 22863195). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01448.; Changed phenotypes to: OMIM:610967.0, IFITM5-related osteogenesis imperfecta, MONDO:0012591, OSTEOGENESIS IMPERFECTA TYPE V, OMIM:610967
DDG2P v6.17 IFIH1 Achchuthan Shanmugasundram edited their review of gene: IFIH1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for IFIH1-related Aicardi-Goutieres syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 24686847, 24995871, 25080300, 25620204, 26833990, 27658362, 28319323, 28716935, 29018476, 29270977, 29782060, 31427910, 31898846, 32042913, 32202700, 34189822, 34453469, 36685504). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01033. The DDG2P confidence category, allelic requirement and molecular mechanism for IFIH1-related Singleton-Merten syndrome are strong, monoallelic_autosomal and gain of function (PMIDs: 25620204, 28319323). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01514.; Changed publications to: 25080300, 27658362, 29018476, 31898846, 29270977, 32202700, 34453469, 24995871, 24686847, 25620204, 29782060, 28716935, 32042913, 34189822, 36685504, 31427910, 26833990, 28319323; Changed phenotypes to: IFIH1-related Aicardi-Goutieres syndrome, OMIM:182250.0, IFIH1-related Singleton-Merten syndrome, AICARDI-GOUTIERES SYNDROME 7, OMIM:615846, MONDO:0014367, MONDO:0024535, SINGLETON-MERTEN SYNDROME, OMIM:182250, OMIM:615846.0
DDG2P v6.17 IER3IP1 Achchuthan Shanmugasundram edited their review of gene: IER3IP1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for IER3IP1-related microcephaly with simplified gyral pattern, epilepsy, and neonatal diabetes are strong, biallelic_autosomal and undetermined (PMIDs: 21835305, 22991235, 24138066, 28711742, 36416459). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03485.; Changed publications to: 36416459, 22991235, 21835305, 28711742, 24138066; Changed phenotypes to: IER3IP1-related microcephaly with simplified gyral pattern, epilepsy, and neonatal diabetes, OMIM:614231.0, MONDO:0031481
DDG2P v6.17 HYLS1 Achchuthan Shanmugasundram edited their review of gene: HYLS1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HYLS1-related hydrolethalus syndrome are definitive, biallelic_autosomal and undetermined (PMID:15843405). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00504.; Changed phenotypes to: MONDO:0009365, OMIM:236680.0, HYLS1-related hydrolethalus syndrome, HYDROLETHALUS SYNDROME TYPE 1, OMIM:236680
DDG2P v6.17 HUWE1 Achchuthan Shanmugasundram edited their review of gene: HUWE1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HUWE1-related syndromic intellectual developmental disorder, Turner type are definitive, monoallelic_X_heterozygous and undetermined (PMIDs: 18252223, 23721686, 27130160, 29180823, 30797980). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00191.; Changed publications to: 23721686, 30797980, 27130160, 18252223, 29180823; Changed phenotypes to: HUWE1-related syndromic intellectual developmental disorder, Turner type, MONDO:0010407, OMIM:309590.0, INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED TURNER TYPE, OMIM:300706
DDG2P v6.17 HSF4 Achchuthan Shanmugasundram edited their review of gene: HSF4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HSF4-related cataract (monoallelic) are definitive, monoallelic_autosomal and undetermined (PMIDs: 12089525, 16876512, 19014451, 24045990, 24637349, 26490182, 29243736, 30143024). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00619.; Changed publications to: 29243736, 12089525, 24637349, 26490182, 19014451, 16876512, 30143024, 24045990; Changed phenotypes to: HSF4-related cataract (monoallelic), MONDO:0007290, OMIM:116800.0, CATARACT 5, MULTIPLE TYPES, OMIM:116800
DDG2P v6.17 HOXD13 Achchuthan Shanmugasundram edited their review of gene: HOXD13: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HOXD13-related brachydactyly-syndactyly syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 12414828, 12649808, 12900906, 17236141, 19060004, 8817328, 9758628). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00949.; Changed publications to: 8817328, 17236141, 19060004, 12900906, 12414828, 9758628, 12649808; Changed phenotypes to: OMIM:610713.0, MONDO:0012544, HOXD13-related brachydactyly-syndactyly syndrome, BRACHYDACTYLY-SYNDACTYLY SYNDROME, OMIM:610713
DDG2P v6.17 HOXB1 Achchuthan Shanmugasundram edited their review of gene: HOXB1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HOXB1-related facial paresis, congenital are strong, biallelic_autosomal and undetermined (PMID:22770981). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00821.; Changed phenotypes to: FACIAL PARESIS, HEREDITARY CONGENITAL, 3, OMIM:614744, MONDO:0013880, HOXB1-related facial paresis, congenital, OMIM:614744.0
DDG2P v6.17 HNRNPH2 Achchuthan Shanmugasundram edited their review of gene: HNRNPH2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HNRNPH2-related neurodevelopmental disorder are strong, monoallelic_X_heterozygous and undetermined (PMID:27545675). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01875.; Changed phenotypes to: HNRNPH2-related neurodevelopmental disorder, Neurodevelopmental Disorder in Females, OMIM:300986.0
DDG2P v6.17 HMGCS2 Achchuthan Shanmugasundram edited their review of gene: HMGCS2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HMGCS2-related 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency are definitive, biallelic_autosomal and undetermined (PMIDs: 11228257, 11479731, 12647205, 9337379, 9727719). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01325.; Changed publications to: 11479731, 9337379, 11228257, 12647205, 9727719; Changed phenotypes to: OMIM:605911.0, MONDO:0011614, 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY, OMIM:605911, HMGCS2-related 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency
DDG2P v6.17 HMGCR Achchuthan Shanmugasundram edited their review of gene: HMGCR: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HMGCR-related limb-girdle muscular dystrophy are moderate, biallelic_autosomal and loss of function (PMIDs: 36745799, 37167966). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03528.; Changed phenotypes to: HMGCR-related limb-girdle muscular dystrophy, MONDO:0957270, OMIM:620375.0
DDG2P v6.17 HK1 Achchuthan Shanmugasundram edited their review of gene: HK1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HK1-related neurodevelopmental disorder with visual defects and brain anomalies are strong, monoallelic_autosomal and undetermined non-loss-of-function (PMIDs: 30778173, 33057194, 36639056, 38617198, 40469904). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02858.; Changed mode of pathogenicity: Other; Changed publications to: 36639056, 33057194, 40469904, 30778173, 38617198; Changed phenotypes to: HK1-related neurodevelopmental disorder with visual defects and brain anomalies, MONDO:0032807, HK1-related developmental disorder (monoallelic), OMIM:618547.0
DDG2P v6.17 HECW2 Achchuthan Shanmugasundram edited their review of gene: HECW2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HECW2-related neurodevelopmental disorder (monoallelic) are definitive, monoallelic_autosomal and undetermined (PMIDs: 27334371, 27389779, 29395664, 29807643, 32814609, 33205896, 34047014, 34321324, 34327820, 35987951, 37280227). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01893. The DDG2P confidence category, allelic requirement and molecular mechanism for HECW2-related neurodevelopmental disorder (biallelic) are limited, biallelic_autosomal and undetermined (PMIDs: 35487419, 35753050). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03392.; Changed publications to: 29395664, 29807643, 35987951, 33205896, 35753050, 34327820, 27334371, 27389779, 34321324, 37280227, 35487419, 34047014, 32814609; Changed phenotypes to: HECW2-related neurodevelopmental disorder (monoallelic), HECW2-associated neurodevelopmental disorder, HECW2-related neurodevelopmental disorder, OMIM:617268, HECW2-related neurodevelopmental disorder (biallelic), OMIM:617268.0, MONDO:0014995
DDG2P v6.17 HECTD4 Achchuthan Shanmugasundram edited their review of gene: HECTD4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HECTD4-related neurodevelopmental disorder with seizures, hypotonia, spasticity, and agenesis of the corpus callosum are moderate, biallelic_autosomal and undetermined (PMID:36401616). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03490.; Changed phenotypes to: HECTD4-related neurodevelopmental disorder with seizures, hypotonia, spasticity, and agenesis of the corpus callosum, MONDO:0859516, OMIM:620250.0
DDG2P v6.17 HDAC3 Achchuthan Shanmugasundram edited their review of gene: HDAC3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HDAC3-related neurodevelopmental disorder are moderate, monoallelic_autosomal and loss of function (PMID:39047730). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03596.; Changed phenotypes to: MONDO:0700092, HDAC3-related neurodevelopmental disorder
DDG2P v6.17 HCN1 Achchuthan Shanmugasundram edited their review of gene: HCN1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HCN1-related epileptic encephalopathy, early infantile are definitive, monoallelic_autosomal and undetermined (PMID:24747641). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00411.; Changed phenotypes to: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24, OMIM:615871, OMIM:615871.0, MONDO:0014377, HCN1-related epileptic encephalopathy, early infantile
DDG2P v6.17 HARS Achchuthan Shanmugasundram edited their review of gene: HARS: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HARS1-related Usher syndrome are limited, biallelic_autosomal and undetermined (PMID:22279524). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00615.; Changed phenotypes to: MONDO:0013788, USHER SYNDROME, OMIM:614504, OMIM:614504.0, HARS1-related Usher syndrome
DDG2P v6.17 HIST1H4C Achchuthan Shanmugasundram edited their review of gene: HIST1H4C: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for H4C3-related Tessadori-Bicknell-van Haaften neurodevelopmental syndrome are strong, monoallelic_autosomal and undetermined (PMID:28920961). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01969.; Changed phenotypes to: HIST1H4C, OMIM:619758.0, MONDO:0030729, H4C3-related Tessadori-Bicknell-van Haaften neurodevelopmental syndrome
DDG2P v6.17 HIST1H4J Achchuthan Shanmugasundram edited their review of gene: HIST1H4J: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for H4C11-related intellectual disability with facial dysmorphism are moderate, monoallelic_autosomal and undetermined (PMIDs: 31804630, 35202563). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02441.; Changed publications to: 31804630, 35202563; Changed phenotypes to: MONDO:0030730, Intellectual disability with facial dysmorphism, OMIM:619759.0, H4C11-related intellectual disability with facial dysmorphism
DDG2P v6.17 HIST3H3 Achchuthan Shanmugasundram edited their review of gene: HIST3H3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for H3-4-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00751.; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, MONDO:0700092, H3-4-related intellectual developmental disorder
DDG2P v6.17 H3F3B Achchuthan Shanmugasundram edited their review of gene: H3F3B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for H3-3B-related neurodevelopmental disorder are moderate, monoallelic_autosomal and undetermined (PMID:33268356). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03308.; Changed phenotypes to: OMIM:619721.0, H3-3B-related neurodevelopmental disorder, MONDO:0030607, H3F3B associated neurodevelopmental disorder
DDG2P v6.17 H3F3A Achchuthan Shanmugasundram edited their review of gene: H3F3A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for H3-3A-related Bryant-Li-Bhoj neurodevelopmental syndrome are strong, monoallelic_autosomal and undetermined (PMIDs: 31942419, 33057194, 33268356). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02443.; Changed publications to: 31942419, 33057194, 33268356; Changed phenotypes to: H3-3A-related Bryant-Li-Bhoj neurodevelopmental syndrome, MONDO:0030606, H3-3A-related Bryant-Li-Bhoj neurodevelopmental syndrome, OMIM:619720, OMIM:619720.0
DDG2P v6.17 GTF2IRD1 Achchuthan Shanmugasundram edited their review of gene: GTF2IRD1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GTF2IRD1-related neurodevelopmental disorder are limited, biallelic_autosomal and undetermined (PMID:36308390). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03437.; Changed phenotypes to: MONDO:0700092, GTF2IRD1-related neurodevelopmental disorder
DDG2P v6.17 GTF2E2 Achchuthan Shanmugasundram edited their review of gene: GTF2E2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GTF2E2-related DNA repair-proficient trichothiodystrophy are strong, biallelic_autosomal and undetermined (PMID:26996949). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01727.; Changed phenotypes to: GTF2E2-related DNA repair-proficient trichothiodystrophy, OMIM:616943.0, MONDO:0014841, DNA Repair-Proficient Trichothiodystrophy
DDG2P v6.17 GSPT2 Achchuthan Shanmugasundram edited their review of gene: GSPT2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GSPT2-related intellectual disability are limited, monoallelic_X_hemizygous and loss of function (PMIDs: 28414775, 31555424). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01434.; Changed publications to: 31555424, 28414775; Changed phenotypes to: GSPT2-related intellectual disability, MONDO:0001071
DDG2P v6.17 GRIN1 Achchuthan Shanmugasundram edited their review of gene: GRIN1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GRIN1-related epileptic encephalopathy are definitive, monoallelic_autosomal and undetermined (PMIDs: 23934111, 25864721, 26933583, 27164704, 28228639, 28389307, 29194067, 29365063, 30355546, 31176596, 33062288, 33403508, 34227748, 34413877, 34884460, 35393335). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01109. The DDG2P confidence category, allelic requirement and molecular mechanism for GRIN1-related neurodevelopmental disorder with or without hyperkinetic movements and seizures are definitive, biallelic_autosomal and loss of function (PMIDs: 26350515, 27164704, 28051072, 34611970). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03206.; Changed publications to: 29365063, 35393335, 33062288, 34611970, 34884460, 30355546, 33403508, 28389307, 26933583, 26350515, 34413877, 28228639, 31176596, 23934111, 25864721, 29194067, 28051072, 34227748, 27164704; Changed phenotypes to: GRIN1-related neurodevelopmental disorder with or without hyperkinetic movements and seizures, MONDO:0060629, GRIN1-associated Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, OMIM:617820, OMIM:617820.0, EPILEPTIC ENCEPHALOPATHY, GRIN1-related epileptic encephalopathy, OMIM:614254.0, MONDO:0013655
DDG2P v6.17 GRIA4 Achchuthan Shanmugasundram edited their review of gene: GRIA4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GRIA4-related neurodevelopmental disorder with or without seizures and gait abnormalities are limited, monoallelic_autosomal and undetermined (PMID:29220673). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02815.; Changed phenotypes to: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES, OMIM:617864, MONDO:0060641, GRIA4-related neurodevelopmental disorder with or without seizures and gait abnormalities, OMIM:617864.0
DDG2P v6.17 GRHL2 Achchuthan Shanmugasundram edited their review of gene: GRHL2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GRHL2-related ectodermal dysplasia and short stature syndrome are strong, biallelic_autosomal and undetermined (PMIDs: 25152456, 27612988). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00084.; Changed publications to: 25152456, 27612988; Changed phenotypes to: GRHL2-related ectodermal dysplasia and short stature syndrome, OMIM:616029.0, ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME, OMIM:616029
DDG2P v6.17 GOT2 Achchuthan Shanmugasundram edited their review of gene: GOT2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GOT2-related malate-aspartate shuttle-related encephalopathy are strong, biallelic_autosomal and undetermined (PMID:31422819). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02788.; Changed phenotypes to: GOT2-related malate-aspartate shuttle-related encephalopathy, Malate-Aspartate Shuttle-Related Encephalopathy, OMIM:618721.0, MONDO:0032880
DDG2P v6.17 GNE Achchuthan Shanmugasundram edited their review of gene: GNE: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GNE-related congenital myopathy are limited, biallelic_autosomal and undetermined (PMID:35121750). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03240. The DDG2P confidence category, allelic requirement and molecular mechanism for GNE-related sialuria are limited, monoallelic_autosomal and undetermined (PMIDs: 10330343, 10356312, 11326336, 11486897, 27142465, 29923088, 32053088). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03241.; Changed publications to: 11326336, 11486897, 27142465, 10356312, 10330343, 35121750, 32053088, 29923088; Changed phenotypes to: MONDO:0010028, OMIM:269921.0, GNE-related sialuria, GNE-associated congenital myopathy, GNE-related congenital myopathy, MONDO:0019952, GNE-associated sialuria, OMIM:269921
DDG2P v6.17 GNB2 Achchuthan Shanmugasundram edited their review of gene: GNB2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GNB2-related developmental disorder are definitive, monoallelic_autosomal and undetermined (PMIDs: 28219978, 31698099, 33057194, 34183358). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02876.; Changed publications to: 28219978, 31698099, 34183358, 33057194; Changed phenotypes to: OMIM:619503.0, GNB2-related developmental disorder (monoallelic), MONDO:0859185, GNB2-related developmental disorder
DDG2P v6.17 GNAI3 Achchuthan Shanmugasundram edited their review of gene: GNAI3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GNAI3-related auriculocondylar syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 11102934, 22560091, 23315542, 25026904, 33723370, 34789173, 35170830, 39014351). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01127.; Changed publications to: 33723370, 39014351, 35170830, 34789173, 23315542, 25026904, 22560091, 11102934; Changed phenotypes to: GNAI3-related auriculocondylar syndrome, AURICULOCONDYLAR SYNDROME, OMIM:602483, OMIM:602483.0, MONDO:0011234
DDG2P v6.17 GNAI1 Achchuthan Shanmugasundram edited their review of gene: GNAI1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GNAI1-related neurodevelopmental disorder with hypotonia, impaired speech, and behavioural abnormalities are moderate, monoallelic_autosomal and undetermined (PMIDs: 33473207, 34819662). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01703.; Changed phenotypes to: MONDO:0859243, OMIM:619854.0, GNAI1-related neurodevelopmental disorder with hypotonia, impaired speech, and behavioural abnormalities, OMIM:619854, GNAI1-related neurodevelopmental disorder with hypotonia, impaired speech, and behavioural abnormalities
DDG2P v6.17 GMPPB Achchuthan Shanmugasundram edited their review of gene: GMPPB: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GMPPB-related muscular dystrophy-dystroglycanopathy are definitive, biallelic_autosomal and undetermined (PMIDs: 23768512, 24780531, 25681410, 26133662, 27766311, 27874200, 28433477, 28456886, 30126629, 30684953, 31211170, 31378432, 34333724, 34633329). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00893.; Changed publications to: 24780531, 28433477, 28456886, 23768512, 30684953, 27874200, 34333724, 30126629, 26133662, 25681410, 31378432, 34633329, 27766311, 31211170; Changed phenotypes to: MONDO:0014140, OMIM:615350.0, GMPPB-related muscular dystrophy-dystroglycanopathy, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, OMIM:615350
DDG2P v6.17 GLUL Achchuthan Shanmugasundram edited their review of gene: GLUL: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GLUL-related congenital systemic glutamine deficiency are definitive, biallelic_autosomal and undetermined (PMIDs: 16267323, 21353613). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00560.; Changed phenotypes to: OMIM:610015.0, CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY, OMIM:610015, GLUL-related congenital systemic glutamine deficiency, MONDO:0012393
DDG2P v6.17 GLE1 Achchuthan Shanmugasundram edited their review of gene: GLE1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GLE1-related arthrogryposis, lethal, with anterior horn cell disease are definitive, biallelic_autosomal and undetermined (PMID:18204449). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01494.; Changed phenotypes to: ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE, OMIM:611890, GLE1-related arthrogryposis, lethal, with anterior horn cell disease, OMIM:611890.0, MONDO:0012750
DDG2P v6.17 GJC2 Achchuthan Shanmugasundram edited their review of gene: GJC2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GJC2-related lymphatic malformation are moderate, monoallelic_autosomal and undetermined (PMID:20537300). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00533. The DDG2P confidence category, allelic requirement and molecular mechanism for GJC2-related leukodystrophy, hypomyelinating are definitive, biallelic_autosomal and undetermined (PMIDs: 15192806, 16969684, 18094336, 19056803, 8733901). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00695.; Changed publications to: 16969684, 20537300, 19056803, 8733901, 18094336, 15192806; Changed phenotypes to: MONDO:0013278, LEUKODYSTROPHY, HYPOMYELINATING, 2, OMIM:608804, OMIM:608804.0, MONDO:0012125, LYMPHEDEMA, HEREDITARY, IC, OMIM:613480, OMIM:613480.0, GJC2-related leukodystrophy, hypomyelinating, GJC2-related lymphatic malformation
DDG2P v6.17 GJA8 Achchuthan Shanmugasundram edited their review of gene: GJA8: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GJA8-related cataract are definitive, monoallelic_autosomal and undetermined (PMIDs: 10480374, 11846744, 14627691, 16604058, 18006672, 28455998, 29464339, 30262699, 30373400, 30498267, 9497259). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01251.; Changed publications to: 16604058, 28455998, 30373400, 29464339, 9497259, 11846744, 18006672, 30498267, 30262699, 14627691, 10480374; Changed phenotypes to: OMIM:116200.0, MONDO:0007285, CATARACT-MICROCORNEA SYNDROME, OMIM:116150, GJA8-related cataract
DDG2P v6.17 GJA3 Achchuthan Shanmugasundram edited their review of gene: GJA3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GJA3-related cataract are definitive, monoallelic_autosomal and undetermined (PMIDs: 10205266, 10746562, 15448617, 21681855, 22312188, 22550389, 22876138, 24772942, 26683566, 28877251, 29461512, 29934635). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01295.; Changed publications to: 10746562, 29934635, 29461512, 21681855, 22876138, 10205266, 26683566, 22550389, 28877251, 22312188, 15448617, 24772942; Changed phenotypes to: OMIM:601885.0, CATARACT ZONULAR PULVERULENT CATARACT TYPE 3, OMIM:601885, GJA3-related cataract, MONDO:0011162
DDG2P v6.17 GIGYF1 Achchuthan Shanmugasundram edited their review of gene: GIGYF1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GIGYF1-related developmental disorder are limited, monoallelic_autosomal and loss of function (PMIDs: 31439631, 33057194, 35917186, 36924980). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02879.; Changed publications to: 36924980, 31439631, 33057194, 35917186; Changed phenotypes to: MONDO:0700092, GIGYF1-related developmental disorder
DDG2P v6.17 GEMIN4 Achchuthan Shanmugasundram edited their review of gene: GEMIN4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GEMIN4-related neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities are strong, biallelic_autosomal and undetermined (PMIDs: 25558065, 27878435, 30237576, 35861185). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02994.; Changed publications to: 25558065, 35861185, 27878435, 30237576; Changed phenotypes to: MONDO:0060664, OMIM:617913.0, NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES, OMIM:617913, GEMIN4-related neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
DDG2P v6.17 GDF6 Achchuthan Shanmugasundram edited their review of gene: GDF6: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GDF6-related oculo-skeletal syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 18425797, 19129173, 21070663, 25457163, 32737436). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00462.; Changed publications to: 21070663, 19129173, 25457163, 18425797, 32737436; Changed phenotypes to: OMIM:118100.0, GDF6 Oculo-Skeletal Syndrome, OMIM:118100, MONDO:0007306, GDF6-related oculo-skeletal syndrome
DDG2P v6.17 GDF5 Achchuthan Shanmugasundram edited their review of gene: GDF5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GDF5-related acromesomelic chondrodysplasia, Grebe type are definitive, biallelic_autosomal and loss of function (PMIDs: 12121354, 12124730, 12357473, 12900894, 16222676, 18629880, 23812741, 2703235, 9288098). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00087. The DDG2P confidence category, allelic requirement and molecular mechanism for GDF5-related symphalangism spectrum disorder are definitive, monoallelic_autosomal and loss of function (PMIDs: 10080184, 11846737, 11857750, 16127465, 16532400, 16892395, 18283415). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01320.; Changed publications to: 12357473, 2703235, 12124730, 16222676, 11857750, 9288098, 11846737, 12900894, 16127465, 18629880, 23812741, 18283415, 12121354, 16532400, 10080184, 16892395; Changed phenotypes to: MONDO:0008703, GDF5-related Symphalangism Spectrum Disorder, OMIM:185800, MONDO:0014125, OMIM:200700.0, GDF5-related symphalangism spectrum disorder, ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE, OMIM:200700, GDF5-related acromesomelic chondrodysplasia, Grebe type, OMIM:615298.0
DDG2P v6.17 GDF3 Achchuthan Shanmugasundram edited their review of gene: GDF3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GDF3-related multiple malformations are limited, monoallelic_autosomal and undetermined (PMIDs: 19864492, 29260090). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00932.; Changed publications to: 29260090, 19864492; Changed phenotypes to: GDF3-related multiple malformations, GDF3 multiple malformations, OMIM:613702, OMIM:613702.0, MONDO:0013375
DDG2P v6.17 GCH1 Achchuthan Shanmugasundram edited their review of gene: GCH1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GCH1-related GTP cyclohydrolase 1 deficiency are definitive, biallelic_autosomal and undetermined (PMIDs: 10987649, 12552057, 15389992, 20842687, 29471552, 7730309, 9667588). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01026. The DDG2P confidence category, allelic requirement and molecular mechanism for GCH1-related dystonia are definitive, monoallelic_autosomal and undetermined (PMIDs: 10078749, 10208576, 10732814, 11113234, 11359069, 11486899, 11956954, 12023430, 12874420, 14509676, 16289769, 17111153, 17410324, 17557242, 17804835, 17898029, 18044725, 18345435, 18511327, 18621497, 19533203, 19566901, 20082337, 20108370, 20437540, 20491893, 21834904, 21935284, 22373569, 24018121, 24509643, 24948553, 25119902, 25634433, 26400349, 28087438, 28415164, 28582483, 28958832, 29290055, 29577080, 29948246, 7874165, 9576537, 9585358, 9667588). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01085.; Changed publications to: 29471552, 20082337, 17111153, 29577080, 28958832, 17410324, 20108370, 11359069, 17898029, 26400349, 9576537, 22373569, 24948553, 24509643, 25119902, 17804835, 20437540, 24018121, 9667588, 21935284, 12552057, 19533203, 9585358, 29290055, 18621497, 18345435, 7730309, 21834904, 7874165, 11113234, 11486899, 28415164, 12023430, 10987649, 29948246, 10208576, 19566901, 28582483, 15389992, 10732814, 16289769, 18044725, 17557242, 20491893, 10078749, 14509676, 28087438, 18511327, 25634433, 20842687, 11956954, 12874420; Changed phenotypes to: OMIM:233910.0, DYSTONIA TYPE 5, OMIM:128230, OMIM:128230.0, GCH1-related dystonia, GCH1-related GTP cyclohydrolase 1 deficiency, GTP CYCLOHYDROLASE 1 DEFICIENCY, OMIM:233910, MONDO:0007495
DDG2P v6.17 GCDH Achchuthan Shanmugasundram edited their review of gene: GCDH: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GCDH-related glutaricacidemia are definitive, biallelic_autosomal and undetermined (PMIDs: 10699052, 11174631, 7795610, 8900227, 8900228). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00451.; Changed phenotypes to: GLUTARICACIDEMIA TYPE 1, OMIM:231670, GCDH-related glutaricacidemia, OMIM:231670.0
DDG2P v6.17 GAD1 Achchuthan Shanmugasundram edited their review of gene: GAD1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GAD1-related cerebral palsy spastic quadriplegic are limited, biallelic_autosomal and undetermined (PMID:15571623). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00998.; Changed phenotypes to: OMIM:619124.0, GAD1-related cerebral palsy spastic quadriplegic, CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 1, OMIM:603513, MONDO:0030856
DDG2P v6.17 GABRG1 Achchuthan Shanmugasundram edited their review of gene: GABRG1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GABRG1-related epileptic encephalopathy are limited, monoallelic_autosomal and undetermined (PMID:36121006). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03350.; Changed phenotypes to: GABRG1-associated epileptic encephalopathy, MONDO:0100062, GABRG1-related epileptic encephalopathy
DDG2P v6.17 GABRB3 Achchuthan Shanmugasundram edited their review of gene: GABRB3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GABRB3-related childhood absence epilepsy are definitive, monoallelic_autosomal and undetermined (PMIDs: 18514161, 23934111, 27476654). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00479.; Changed publications to: 23934111, 27476654, 18514161; Changed phenotypes to: GABRB3-related childhood absence epilepsy, CHILDHOOD ABSENCE EPILEPSY TYPE 5, OMIM:612269, MONDO:0012843, OMIM:612269.0
DDG2P v6.17 GABRB2 Achchuthan Shanmugasundram edited their review of gene: GABRB2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GABRB2-related epilepsy and intellectual disability are strong, monoallelic_autosomal and undetermined (PMID:29100083). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02377.; Changed phenotypes to: Epilepsy and intellectual disability, GABRB2-related epilepsy and intellectual disability, OMIM:617829.0, MONDO:0020631
DDG2P v6.17 GABRA2 Achchuthan Shanmugasundram edited their review of gene: GABRA2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GABRA2-related epileptic encephalopathy are strong, monoallelic_autosomal and undetermined (PMIDs: 29422393, 29961870, 31032849). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03475.; Changed publications to: 29961870, 31032849, 29422393; Changed phenotypes to: GABRA2-related epileptic encephalopathy, OMIM:618557.0, MONDO:0032812
DDG2P v6.17 GABBR2 Achchuthan Shanmugasundram edited their review of gene: GABBR2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GABBR2-related epileptic encephalopathy are strong, monoallelic_autosomal and undetermined (PMIDs: 25262651, 26740508, 28856709, 29100083, 29369404). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01145.; Changed publications to: 26740508, 29100083, 28856709, 25262651, 29369404; Changed phenotypes to: EPILEPTIC ENCEPHALOPATHY, GABBR2-related epileptic encephalopathy, MONDO:0033368, OMIM:617904.0
DDG2P v6.17 GABBR1 Achchuthan Shanmugasundram edited their review of gene: GABBR1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GABBR1-related neurodevelopmental disorder are moderate, monoallelic_autosomal and undetermined (PMID:36103875). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03347.; Changed phenotypes to: GABBR1-related neurodevelopmental disorder, OMIM:620502.0, GABBR1-associated neurodevelopmental disorder, MONDO:0957779
DDG2P v6.17 FZR1 Achchuthan Shanmugasundram edited their review of gene: FZR1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FZR1-related intellectual disability and epilepsy are strong, monoallelic_autosomal and undetermined (PMIDs: 31318984, 34788397). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03223.; Changed phenotypes to: OMIM:620145.0, FZR1-related intellectual disability and epilepsy, MONDO:0859325
DDG2P v6.17 FXN Achchuthan Shanmugasundram edited their review of gene: FXN: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FXN-related Friedreich ataxia are definitive, biallelic_autosomal and loss of function (PMIDs: 10633128, 22409940, 22691228, 24705334, 25566998, 26704351, 28405347, 30681346). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03444.; Changed publications to: 22409940, 10633128, 24705334, 28405347, 30681346, 25566998, 22691228, 26704351; Changed phenotypes to: FXN-related Friedreich ataxia, MONDO:0100340, OMIM:229300.0
DDG2P v6.17 FTO Achchuthan Shanmugasundram edited their review of gene: FTO: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FTO-related growth retardation, developmental delay, coarse facies, and early death are limited, biallelic_autosomal and undetermined (PMID:19559399). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00102.; Changed phenotypes to: GROWTH RETARDATION DEVELOPMENTAL DELAY COARSE FACIES AND EARLY DEATH, OMIM:612938, OMIM:612938.0, FTO-related growth retardation, developmental delay, coarse facies, and early death
DDG2P v6.17 FRMD7 Achchuthan Shanmugasundram edited their review of gene: FRMD7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FRMD7-related nystagmus, congenital are definitive, monoallelic_X_hemizygous and loss of function (PMIDs: 16240070, 17013395, 17397053, 17962394, 18087240, 19072571, 21746984, 25678693). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00559.; Changed rating: GREEN; Changed publications to: 17962394, 17013395, 17397053, 18087240, 16240070, 19072571, 21746984, 25678693; Changed phenotypes to: NYSTAGMUS 1, CONGENITAL, X-LINKED, OMIM:310700, MONDO:0010693, FRMD7-related nystagmus, congenital, OMIM:310700.0
DDG2P v6.17 FRMD5 Achchuthan Shanmugasundram edited their review of gene: FRMD5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FRMD5-related developmental disorder are moderate, monoallelic_autosomal and undetermined (PMID:36206744). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03410.; Changed phenotypes to: FRMD5-related developmental disorder, OMIM:620094.0, MONDO:0859305
DDG2P v6.17 FOXP4 Achchuthan Shanmugasundram edited their review of gene: FOXP4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FOXP4-related developmental disorder are moderate, monoallelic_autosomal and undetermined (PMIDs: 33110267, 36301021). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03059.; Changed publications to: 36301021, 33110267; Changed phenotypes to: MONDO:0700092, FOXP4-related Developmental Disorder, FOXP4-related developmental disorder
DDG2P v6.17 FOXI3 Achchuthan Shanmugasundram edited their review of gene: FOXI3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FOXI3-related microtia and craniofacial microsomia are limited, monoallelic_autosomal and undetermined (PMID:36260083). The cross-cutting modifier is typified by incomplete penetrance. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03399.; Changed phenotypes to: OMIM:620444.0, MONDO:0958194, FOXI3-related microtia and craniofacial microsomia
DDG2P v6.17 FOXE1 Achchuthan Shanmugasundram edited their review of gene: FOXE1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FOXE1-related Bamforth-Lazarus syndrome are definitive, biallelic_autosomal and undetermined (PMIDs: 16882747, 35963604, 9697705). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00542.; Changed publications to: 35963604, 9697705, 16882747; Changed phenotypes to: MONDO:0009437, BAMFORTH-LAZARUS SYNDROME, OMIM:241850, OMIM:241850.0, FOXE1-related Bamforth-Lazarus syndrome
DDG2P v6.17 FOSL2 Achchuthan Shanmugasundram edited their review of gene: FOSL2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FOSL2-related neurodevelopmental disorder with scalp and enamel defects are moderate, monoallelic_autosomal and undetermined (PMID:36197437). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03482.; Changed phenotypes to: MONDO:0968978, OMIM:620789.0, FOSL2-related neurodevelopmental disorder with scalp and enamel defects
DDG2P v6.17 FN1 Achchuthan Shanmugasundram edited their review of gene: FN1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FN1-related spondylometaphyseal dysplasia with corner fractures are strong, monoallelic_autosomal and undetermined (PMID:29100092). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02384.; Changed phenotypes to: Spondylometaphyseal Dysplasia with Corner Fractures, OMIM:184255, OMIM:184255.0, FN1-related spondylometaphyseal dysplasia with corner fractures, MONDO:0008479
DDG2P v6.17 FLVCR1 Achchuthan Shanmugasundram edited their review of gene: FLVCR1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FLVCR1-related ataxia, posterior column, with retinitis pigmentosa are definitive, biallelic_autosomal and undetermined (PMIDs: 21070897, 21267618, 30656474, 9409377). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00551.; Changed publications to: 21267618, 21070897, 30656474, 9409377; Changed phenotypes to: FLVCR1-related ataxia, posterior column, with retinitis pigmentosa, OMIM:609033.0, ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA, OMIM:609033, MONDO:0012177
DDG2P v6.17 FLT4 Achchuthan Shanmugasundram edited their review of gene: FLT4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FLT4-related Milroy disease are definitive, monoallelic_autosomal and undetermined (PMIDs: 10835628, 10856194, 12960217, 16924388, 16965327, 19289394). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01266. The DDG2P confidence category, allelic requirement and molecular mechanism for FLT4-related congenital heart disease are strong, monoallelic_autosomal and loss of function (PMID:33067626). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03441.; Changed publications to: 10856194, 33067626, 12960217, 10835628, 16924388, 19289394, 16965327; Changed phenotypes to: MILROY DISEASE, OMIM:153100, OMIM:153100.0, FLT4-related Milroy disease, MONDO:0032913, FLT4-related congenital heart disease, MONDO:0007919, OMIM:618780.0, CONGENITAL HEART DISEASE
DDG2P v6.17 FICD Achchuthan Shanmugasundram commented on gene: FICD: The DDG2P confidence category, allelic requirement and molecular mechanism for FICD-related infancy-onset diabetes and neurodevelopmental disorder are limited, biallelic_autosomal and loss of function (PMID:36704923). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03557.
DDG2P v6.17 FGFR3 Achchuthan Shanmugasundram edited their review of gene: FGFR3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR3-related lacrimo-auriculo-dento-digital syndrome (LADD) are definitive, monoallelic_autosomal and undetermined (PMIDs: 16501574, 28483234). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00012. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR3-related Muenke syndrome are definitive, monoallelic_autosomal and gain of function (PMIDs: 10914960, 11197897, 9042914, 9279753, 9279764, 9525367, 9600744, 9950359). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00178. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR3-related Crouzon syndrome with acanthosis nigricans are definitive, monoallelic_autosomal and gain of function (PMIDs: 11426459, 23437153, 31016899, 32860240, 34388723, 37397405, 7493034, 8880573). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00864. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR3-related achondroplasia are definitive, monoallelic_autosomal and gain of function (PMIDs: 10611230, 11186940, 16411219, 16912704, 7758520, 7847369, 7913883, 8078586, 8599370, 8844216, 8949407, 9001669, 9401015). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00944. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR3-related thanatophoric dysplasia, type 2 are definitive, monoallelic_autosomal and gain of function (PMID:7773297). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01101. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR3-related camptodactyly tall stature and hearing loss syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 17033969, 27139183). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01202. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR3-related hypochondroplasia are definitive, monoallelic_autosomal and gain of function (PMIDs: 10215410, 11015576, 11055896, 16912704, 7670477, 8589686, 9452043). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01257. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR3-related thanatophoric dysplasia, type 1 are definitive, monoallelic_autosomal and gain of function (PMIDs: 10360402, 10910625, 11309183, 19449430, 7647778, 7773297, 8589699, 8845844, 9215781, 9790257). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01321.; Changed publications to: 16912704, 8949407, 8078586, 10215410, 11309183, 11055896, 23437153, 11426459, 9279764, 9950359, 7913883, 11186940, 9215781, 28483234, 11197897, 37397405, 16501574, 9042914, 16411219, 7847369, 8845844, 8589699, 27139183, 8880573, 9279753, 7670477, 17033969, 10914960, 9001669, 7647778, 8599370, 9452043, 7493034, 19449430, 10360402, 7773297, 10611230, 31016899, 9525367, 9401015, 8844216, 11015576, 34388723, 32860240, 9600744, 8589686, 7758520, 10910625, 9790257; Changed phenotypes to: MONDO:0859577, MONDO:0012833, FGFR3-related thanatophoric dysplasia, type 1, FGFR3-related Crouzon syndrome with acanthosis nigricans, CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME, OMIM:610474, HYPOCHONDROPLASIA, OMIM:146000, OMIM:620192.0, MONDO:0008546, OMIM:100800.0, THANATOPHORIC DYSPLASIA TYPE 2, OMIM:187601, FGFR3-related thanatophoric dysplasia, type 2, OMIM:146000.0, MONDO:0008547, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, OMIM:612247, OMIM:610474.0, MUENKE SYNDROME, OMIM:602849, FGFR3-related achondroplasia, FGFR3-related Muenke syndrome, OMIM:187600.0, MONDO:0011274, MONDO:0012504, THANATOPHORIC DYSPLASIA TYPE 1, OMIM:187600, LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, OMIM:149730, ACHONDROPLASIA, OMIM:100800, OMIM:187601.0, FGFR3-related lacrimo-auriculo-dento-digital syndrome (LADD), MONDO:0007793, FGFR3-related hypochondroplasia, MONDO:0007037, OMIM:612247.0, OMIM:602849.0, FGFR3-related camptodactyly tall stature and hearing loss syndrome
DDG2P v6.17 FGFR2 Achchuthan Shanmugasundram edited their review of gene: FGFR2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR2-related Crouzon syndrome are definitive, monoallelic_autosomal and gain of function (PMIDs: 10574673, 15523492, 17621648, 22038757, 7558045, 7581378, 7607643, 7655462, 7773284, 7874170, 7987400, 8528214, 8956050, 9152842, 9677057). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00144. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR2-related Apert Syndrome are definitive, monoallelic_autosomal and gain of function (PMIDs: 7668257, 7719344, 8651276, 9002682, 9217234, 9452027, 9973282). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00331. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR2-related lacrimo-auriculo-dento-digital syndrome (LADD) are definitive, monoallelic_autosomal and gain of function (PMIDs: 16501574, 32715658). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00621. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR2-related Jackson-Weiss syndrome are definitive, monoallelic_autosomal and gain of function (PMIDs: 7874170, 9385368). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01005. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR2-related Antley-Bixler syndrome are strong, monoallelic_autosomal and undetermined (PMIDs: 10633130, 15793702, 9605588). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01090. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR2-related Beare-Stevenson cutis gyrata syndrome are definitive, monoallelic_autosomal and gain of function (PMIDs: 12000365, 19610084, 8696350, 9545103). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01273. The DDG2P confidence category, allelic requirement and molecular mechanism for FGFR2-related Pfeiffer syndrome are definitive, monoallelic_autosomal and gain of function (PMIDs: 10394936, 10731087, 10945669, 11380927, 11556600, 11807866, 7719333, 9150725, 9457499, 9475591). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01586.; Changed publications to: 9457499, 22038757, 8696350, 17621648, 8528214, 11807866, 7655462, 8956050, 9002682, 9475591, 7719344, 16501574, 15523492, 9217234, 7581378, 9973282, 11380927, 9385368, 15793702, 11556600, 7874170, 9150725, 9605588, 7719333, 7668257, 10633130, 10574673, 9545103, 12000365, 7773284, 7987400, 32715658, 9677057, 10731087, 9152842, 10394936, 10945669, 7558045, 9452027, 7607643, 8651276, 19610084; Changed phenotypes to: OMIM:149730.0, OMIM:123150.0, MONDO:0020667, MONDO:0007400, OMIM:123790.0, MONDO:0007412, MONDO:0007043, FGFR2-related lacrimo-auriculo-dento-digital syndrome (LADD), OMIM:101600.0, OMIM:101200.0, MONDO:0007405, FGFR2-related Pfeiffer syndrome, CROUZON SYNDROME, OMIM:123500, ACROCEPHALOSYNDACTYLY TYPE V, OMIM:101600, OMIM:207410.0, MONDO:0100302, OMIM:123500.0, FGFR2-related Apert Syndrome, APERT SYNDROME, OMIM:101200, LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, OMIM:149730, ANTLEY-BIXLER SYNDROME, OMIM:207410, FGFR2-related Jackson-Weiss syndrome, JACKSON-WEISS SYNDROME, OMIM:123150, FGFR2-related Antley-Bixler syndrome, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OMIM:123790, MONDO:0007041, FGFR2-related Crouzon syndrome, FGFR2-related lacrimo-auriculo-dento-digital syndrome, OMIM:149730, FGFR2-related Beare-Stevenson cutis gyrata syndrome, FGFR2-related Pfeiffer syndrome, OMIM:101600
DDG2P v6.17 FGF13 Achchuthan Shanmugasundram edited their review of gene: FGF13: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FGF13-related neurodevelopmental disorder are strong, monoallelic_X_hemizygous and gain of function (PMIDs: 27073347, 33245860, 34184986). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03095. The DDG2P confidence category, allelic requirement and molecular mechanism for FGF13-related neurodevelopmental disorder are limited, monoallelic_X_heterozygous and gain of function (PMIDs: 33245860, 34871784, 37536293). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03096.; Changed publications to: 27073347, 34871784, 37536293, 34184986, 33245860; Changed phenotypes to: FGF13-related neurodevelopmental disorder (X-linked dominant), OMIM:301058.0, MONDO:0025353, FGF13-related neurodevelopmental disorder, FGF13-related neurodevelopmental disorder (hemizygous); Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v6.17 FDXR Achchuthan Shanmugasundram edited their review of gene: FDXR: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FDXR-related optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome are strong, biallelic_autosomal and loss of function (PMIDs: 28965846, 30250212, 32499495, 33938912). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03502.; Changed publications to: 32499495, 28965846, 33938912, 30250212; Changed phenotypes to: OMIM:617717.0, FDXR-related optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome, MONDO:0034092
DDG2P v6.17 FUK Achchuthan Shanmugasundram edited their review of gene: FUK: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FCSK-related congenital disorder of glycosylation are strong, biallelic_autosomal and undetermined (PMID:30503518). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02632.; Changed phenotypes to: OMIM:618324.0, FCSK-related congenital disorder of glycosylation, MONDO:0020777, CONGENITAL DISORDER OF GLYCOSYLATION, MONDO:0015286
DDG2P v6.17 FBXW7 Achchuthan Shanmugasundram edited their review of gene: FBXW7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FBXW7-related developmental disorder are moderate, monoallelic_autosomal and undetermined (PMIDs: 33057194, 35395208). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02875.; Changed publications to: 35395208, 33057194; Changed phenotypes to: OMIM:620012.0, MONDO:0859280, FBXW7-related developmental disorder (monoallelic), FBXW7-related developmental disorder
DDG2P v6.17 FBXW4 Achchuthan Shanmugasundram edited their review of gene: FBXW4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FBXW4-related split-hand and foot malformation are limited, monoallelic_autosomal and undetermined (PMIDs: 12913067, 12974740, 16691619, 16761290, 29263051, 38250576). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00400.; Changed publications to: 12913067, 38250576, 29263051, 16691619, 16761290, 12974740; Changed phenotypes to: MONDO:0009525, FBXW4-related split-hand and foot malformation, SPLIT-HAND/FOOT MALFORMATION TYPE 3, OMIM:246560, OMIM:246560.0
DDG2P v6.17 FBXW11 Achchuthan Shanmugasundram edited their review of gene: FBXW11: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FBXW11-related syndromic intellectual disability are strong, monoallelic_autosomal and undetermined (PMID:31402090). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02790.; Changed phenotypes to: FBXW11-related syndromic intellectual disability, MONDO:0030057, OMIM:618914.0, SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100
DDG2P v6.17 FBXO28 Achchuthan Shanmugasundram edited their review of gene: FBXO28: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FBXO28-related developmental and epileptic encephalopathy with profound intellectual disability are definitive, monoallelic_autosomal and undetermined (PMIDs: 30160831, 33280099, 37543484). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03080.; Changed publications to: 33280099, 37543484, 30160831; Changed phenotypes to: FBXO28-related developmental and epileptic encephalopathy with profound intellectual disability, MONDO:0030695, FBX028-related developmental and epileptic encephalopathy with profound intellectual disability, OMIM:619777.0
DDG2P v6.17 FBLN1 Achchuthan Shanmugasundram edited their review of gene: FBLN1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FBLN1-related synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses are limited, biallelic_autosomal and undetermined (PMID:11836357). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00356.; Changed publications to: 11836357; Changed phenotypes to: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, OMIM:608180, FBLN1-related synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses, MONDO:0011984, OMIM:608180.0
DDG2P v6.17 FASN Achchuthan Shanmugasundram edited their review of gene: FASN: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FASN-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01238.; Changed phenotypes to: MONDO:0700092, FASN-related intellectual developmental disorder, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER
DDG2P v6.17 EZH2 Achchuthan Shanmugasundram edited their review of gene: EZH2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for EZH2-related Weaver syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 24214728, 26694085, 26762561, 30793471). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01503.; Changed publications to: 26694085, 24214728, 26762561, 30793471; Changed phenotypes to: MONDO:0010193, WEAVER SYNDROME 2, OMIM:614421, OMIM:277590.0, EZH2-related Weaver syndrome
DDG2P v6.17 EXTL3 Achchuthan Shanmugasundram edited their review of gene: EXTL3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for EXTL3-related neuro immuno skeletal dysplasia syndrome are strong, biallelic_autosomal and undetermined (PMID:28132690). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02593.; Changed phenotypes to: OMIM:617425.0, EXTL3-related neuro immuno skeletal dysplasia syndrome, Neuro immuno skeletal Dysplasia Syndrome, MONDO:0044312
DDG2P v6.17 EXOSC3 Achchuthan Shanmugasundram edited their review of gene: EXOSC3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for EXOSC3-related pontocerebellar hypoplasia are definitive, biallelic_autosomal and undetermined (PMID:34085948). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00730.; Changed phenotypes to: PONTOCEREBELLAR HYPOPLASIA TYPE 1, OMIM:607596, MONDO:0013853, OMIM:614678.0, EXOSC3-related pontocerebellar hypoplasia
DDG2P v6.17 ERLIN2 Achchuthan Shanmugasundram edited their review of gene: ERLIN2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ERLIN2-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00030.; Changed phenotypes to: OMIM:611225.0, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, ERLIN2-related intellectual developmental disorder
DDG2P v6.17 ERI1 Achchuthan Shanmugasundram edited their review of gene: ERI1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ERI1-related severe growth restriction and skeletal dysplasia are moderate, biallelic_autosomal and loss of function (PMID:37352860). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03515. The DDG2P confidence category, allelic requirement and molecular mechanism for ERI1-related brachydactyly and mild neurodevelopmental delay are moderate, biallelic_autosomal and loss of function (PMIDs: 28488351, 36208065, 37352860). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03516.; Changed publications to: 37352860, 36208065, 28488351; Changed phenotypes to: ERI1-related brachydactyly and mild neurodevelopmental delay, OMIM:620662.0, MONDO:0958005, ERI1-related severe growth restriction and skeletal dysplasia, MONDO:0958006, OMIM:620663.0
DDG2P v6.17 ERBB3 Achchuthan Shanmugasundram edited their review of gene: ERBB3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ERBB3-related lethal congenital contracture syndrome are strong, biallelic_autosomal and undetermined (PMID:17701904). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01134. The DDG2P confidence category, allelic requirement and molecular mechanism for ERBB3-related Hirschprung disease with intestinal pseudo-obstruction are strong, biallelic_autosomal and undetermined (PMID:33497358). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02558.; Changed publications to: 17701904, 33497358; Changed phenotypes to: Hirschprung disease with intestinal pseudo-obstruction, ERBB3-related Hirschprung disease with intestinal pseudo-obstruction, MONDO:0011868, MONDO:8000011, OMIM:243180.0, ERBB3-related lethal congenital contracture syndrome, OMIM:607598.0, LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2, OMIM:607598
DDG2P v6.17 EPB41L3 Achchuthan Shanmugasundram edited their review of gene: EPB41L3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for EPB41L3-related developmental disorder with delayed myelination and seizures are moderate, biallelic_autosomal and loss of function (PMID:39292993). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03579.; Changed phenotypes to: MONDO:0100038, EPB41L3-related developmental disorder with delayed myelination and seizures
DDG2P v6.17 EPB41L1 Achchuthan Shanmugasundram edited their review of gene: EPB41L1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for EPB41L1-related intellectual disability are limited, monoallelic_autosomal and undetermined (PMID:21376300). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01970.; Changed phenotypes to: OMIM:614257.0, EPB41L1-related intellectual disability, INTELLECTUAL DISABILITY, OMIM:616579, MONDO:0013658
DDG2P v6.17 ENTPD1 Achchuthan Shanmugasundram edited their review of gene: ENTPD1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ENTPD1-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01520.; Changed phenotypes to: MONDO:0700092, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, ENTPD1-related intellectual developmental disorder
DDG2P v6.17 EMG1 Achchuthan Shanmugasundram edited their review of gene: EMG1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for EMG1-related Bowen-Conradi syndrome are strong, biallelic_autosomal and undetermined (PMIDs: 19463982, 25708872, 26676230, 27798105). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01877.; Changed publications to: 25708872, 19463982, 26676230, 27798105; Changed phenotypes to: OMIM:211180.0, Bowen-Conradi syndrome, OMIM:211180, EMG1-related Bowen-Conradi syndrome, MONDO:0008879
DDG2P v6.17 ELP2 Achchuthan Shanmugasundram edited their review of gene: ELP2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ELP2-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00778.; Changed phenotypes to: OMIM:617270.0, MONDO:0014996, ELP2-related intellectual developmental disorder, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER
DDG2P v6.17 EIF4A3 Achchuthan Shanmugasundram edited their review of gene: EIF4A3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for EIF4A3-related Richieri-Costa-Pereira syndrome are definitive, biallelic_autosomal and undetermined (PMID:24360810). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01453.; Changed phenotypes to: MONDO:0009998, RICHIERI-COSTA-PEREIRA SYNDROME, OMIM:268305, EIF4A3-related Richieri-Costa-Pereira syndrome, OMIM:268305.0
DDG2P v6.17 EIF4A2 Achchuthan Shanmugasundram edited their review of gene: EIF4A2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for EIF4A2-related neurodevelopmental disorder with hypotonia and epilepsy are moderate, monoallelic_autosomal and undetermined (PMID:36528028). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03471. The DDG2P confidence category, allelic requirement and molecular mechanism for EIF4A2-related neurodevelopmental disorder are limited, biallelic_autosomal and undetermined (PMID:36528028). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03472.; Changed phenotypes to: MONDO:0957541, EIF4A2-related neurodevelopmental disorder with hypotonia and epilepsy, EIF4A2-related neurodevelopmental disorder, Autosomal dominant EIF4A2-related neurodevelopmental disorder with hypotonia and epilepsy, OMIM:620455.0, Autosomal recessive EIF4A2-related neurodevelopmental disorder
DDG2P v6.17 EIF2AK2 Achchuthan Shanmugasundram edited their review of gene: EIF2AK2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for EIF2AK2-related developmental delay, leukoencephalopathy, and neurologic decompensation are strong, monoallelic_autosomal and undetermined (PMID:32197074). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02948.; Changed phenotypes to: OMIM:618877.0, MONDO:0030035, EIF2AK2-associated Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation, EIF2AK2-related developmental delay, leukoencephalopathy, and neurologic decompensation
DDG2P v6.17 EIF2AK1 Achchuthan Shanmugasundram edited their review of gene: EIF2AK1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for EIF2AK1-related neurodevelopmental syndrome are limited, monoallelic_autosomal and undetermined (PMID:32197074). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02947.; Changed phenotypes to: EIF2AK1-associated Neurodevelopmental Syndrome, MONDO:0030036, EIF2AK1-related neurodevelopmental syndrome, OMIM:618878.0
DDG2P v6.17 EED Achchuthan Shanmugasundram edited their review of gene: EED: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for EED-related Weaver-like overgrowth syndrome are strong, monoallelic_autosomal and undetermined (PMIDs: 25787343, 27193220, 27868325, 28475857). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02232.; Changed publications to: 25787343, 27868325, 28475857, 27193220; Changed phenotypes to: EED-related Weaver-like overgrowth syndrome, Weaver-like overgrowth syndrome, OMIM:617561.0, MONDO:0060510
DDG2P v6.17 EDNRB Achchuthan Shanmugasundram edited their review of gene: EDNRB: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for EDNRB-related Waardenburg syndrome with Hirschsprung are definitive, biallelic_autosomal and loss of function (PMIDs: 11773966, 11891690, 16237557, 21373256, 21715336, 23360229, 25852447, 28502583, 30394532, 40702859, 7778600, 8001158). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03082.; Changed publications to: 11773966, 40702859, 21715336, 30394532, 21373256, 8001158, 16237557, 11891690, 23360229, 7778600, 25852447, 28502583; Changed phenotypes to: ABCD SYNDROME, OMIM:600501, MONDO:0010192, OMIM:277580.0, EDNRB-related Waardenburg syndrome with Hirschsprung; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.17 WDR34 Achchuthan Shanmugasundram edited their review of gene: WDR34: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DYNC2I2-related severe asphyxiating thoracic dysplasia are definitive, biallelic_autosomal and undetermined (PMID:24183449). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01550.; Changed phenotypes to: MONDO:0014287, OMIM:615633.0, DYNC2I2-related severe asphyxiating thoracic dysplasia, SEVERE ASPHYXIATING THORACIC DYSPLASIA
DDG2P v6.17 DYNC1H1 Achchuthan Shanmugasundram edited their review of gene: DYNC1H1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DYNC1H1-related spinal muscular atrophy, lower extremity-predominant are definitive, monoallelic_autosomal and undetermined (PMIDs: 22459677, 22847149, 24307404, 25484024, 25609763, 26846447, 27066557, 28193117, 28554554, 29306600, 30122514, 30246859, 32947049, 34368388, 35606327, 35899263, 36720598, 36882741, 37395972). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00192. The DDG2P confidence category, allelic requirement and molecular mechanism for DYNC1H1-related severe intellectual disability with neuronal migration disorder are definitive, monoallelic_autosomal and undetermined (PMIDs: 22368300, 24307404, 25609763, 27331017, 27754416, 28193117, 28395088, 34092403, 34786417, 34803881, 35099838, 36175372, 36636459, 37181555, 37903666). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01629.; Changed publications to: 35099838, 32947049, 25609763, 30246859, 34786417, 37395972, 27754416, 37903666, 26846447, 35899263, 36636459, 37181555, 29306600, 36720598, 34368388, 22459677, 22368300, 28193117, 24307404, 27066557, 28395088, 34803881, 30122514, 36882741, 25484024, 35606327, 34092403, 36175372, 28554554, 22847149, 27331017; Changed phenotypes to: SEVERE ID WITH NEURONAL MIGRATION DISORDER, OMIM:600112, OMIM:158600.0, OMIM:614563.0, DYNC1H1-related spinal muscular atrophy, lower extremity-predominant, MONDO:0013805, DYNC1H1-related severe intellectual disability with neuronal migration disorder, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD, OMIM:158600
DDG2P v6.17 DSP Achchuthan Shanmugasundram edited their review of gene: DSP: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DSP-related developmental disorder are moderate, monoallelic_autosomal and undetermined (PMID:33057194). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03014.; Changed phenotypes to: DSP-related developmental disorder, MONDO:0700092
DDG2P v6.17 DSE Achchuthan Shanmugasundram edited their review of gene: DSE: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DSE-related Ehlers-Danlos syndrome, musculocontractural are limited, biallelic_autosomal and undetermined (PMID:23704329). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01694.; Changed phenotypes to: OMIM:615539.0, MONDO:0014236, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, OMIM:615539, DSE-related Ehlers-Danlos syndrome, musculocontractural
DDG2P v6.17 DPYSL5 Achchuthan Shanmugasundram edited their review of gene: DPYSL5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DPYSL5-related developmental disorder are strong, monoallelic_autosomal and undetermined (PMID:33894126). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02874.; Changed phenotypes to: DPYSL5-related developmental disorder, DPYSL5-related developmental disorder (monoallelic), MONDO:0030331, OMIM:619435.0
DDG2P v6.17 DOLK Achchuthan Shanmugasundram edited their review of gene: DOLK: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DOLK-related congenital disorder of glycosylation are definitive, biallelic_autosomal and undetermined (PMIDs: 17273964, 22242004). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00513.; Changed publications to: 17273964, 22242004; Changed phenotypes to: OMIM:610768.0, CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379, MONDO:0012556, DOLK-related congenital disorder of glycosylation
DDG2P v6.17 DNM1L Achchuthan Shanmugasundram edited their review of gene: DNM1L: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DNM1L-related developmental disorder are strong, monoallelic_autosomal and undetermined (PMIDs: 26604000, 26992161, 27328748, 29877124, 30801875, 30850373, 30939602, 31475481, 31587467). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02853.; Changed publications to: 30850373, 30939602, 26992161, 30801875, 26604000, 31587467, 31475481, 27328748, 29877124; Changed phenotypes to: DNM1L-related developmental disorder, MONDO:0013726, DNM1L-related developmental disorder (monoallelic), OMIM:614388.0
DDG2P v6.17 DNM1 Achchuthan Shanmugasundram edited their review of gene: DNM1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DNM1-related microcephaly, developmental and epileptic encephalopathy (monoallelic) are strong, monoallelic_autosomal and dominant negative (PMIDs: 25262651, 26611353, 28667181, 29397573, 29427836, 30455886, 32909139, 34172529, 34386584, 36413998, 37039969, 37132416, 37248033, 38009673). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00371. The DDG2P confidence category, allelic requirement and molecular mechanism for DNM1-related microcephaly, developmental and epileptic encephalopathy (biallelic) are moderate, biallelic_autosomal and loss of function (PMIDs: 34172529, 36413998, 36553519, 37900685). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03414.; Changed publications to: 29427836, 38009673, 34172529, 32909139, 36553519, 34386584, 26611353, 37900685, 36413998, 29397573, 25262651, 28667181, 37132416, 37248033, 30455886, 37039969; Changed phenotypes to: OMIM:620352.0, DNM1-related microcephaly, developmental and epileptic encephalopathy (biallelic), MONDO:0957248, DNM1-related microcephaly, developmental and epileptic encephalopathy (monoallelic), DNM1-associated microcephaly, developmental and epileptic encephalopathy
DDG2P v6.17 DNAAF5 Achchuthan Shanmugasundram edited their review of gene: DNAAF5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DNAAF5-related primary ciliary dyskinesia are strong, biallelic_autosomal and undetermined (PMID:23040496). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01197.; Changed phenotypes to: DNAAF5-related primary ciliary dyskinesia, MONDO:0013940, CILIARY DYSKINESIA, PRIMARY, 18, OMIM:614874, OMIM:614874.0
DDG2P v6.17 DNA2 Achchuthan Shanmugasundram edited their review of gene: DNA2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DNA2-related microcephalic primordial dwarfism with or without poikiloderma and cataracts are limited, biallelic_autosomal and undetermined (PMIDs: 24389050, 31045292, 37055165). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00662.; Changed rating: RED; Changed publications to: 24389050, 31045292, 37055165; Changed phenotypes to: PRIMORDIAL DWARFISM SECKEL SYNDROME 8, OMIM:615807, MONDO:0014350, DNA2-related microcephalic primordial dwarfism with or without poikiloderma and cataracts, OMIM:615807, OMIM:615807.0, DNA2-related microcephalic primordial dwarfism with or without poikiloderma and cataracts
DDG2P v6.17 DLX5 Achchuthan Shanmugasundram edited their review of gene: DLX5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DLX5-related split-hand and foot malformation are limited, biallelic_autosomal and undetermined (PMID:22121204). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00118.; Changed phenotypes to: DLX5-related split-hand and foot malformation, MONDO:0009080, SPLIT HAND AND FOOT MALFORMATION, OMIM:220600, OMIM:220600.0
DDG2P v6.17 DLG2 Achchuthan Shanmugasundram commented on gene: DLG2: The DDG2P confidence category, allelic requirement and molecular mechanism for DLG2-related neurodevelopmental disorder are limited, monoallelic_autosomal and undetermined (PMID:37860969). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03568.
DDG2P v6.17 DIP2C Achchuthan Shanmugasundram commented on gene: DIP2C: The DDG2P confidence category, allelic requirement and molecular mechanism for DIP2C-related developmental disorder with speech delay are moderate, monoallelic_autosomal and loss of function (PMID:38421105). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03573.
DDG2P v6.17 DIP2B Achchuthan Shanmugasundram edited their review of gene: DIP2B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DIP2B-related intellectual developmental disorder, FRA12A type are limited, monoallelic_autosomal and undetermined (PMID:17236128). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01009.; Changed phenotypes to: OMIM:136630.0, DIP2B-related intellectual developmental disorder, FRA12A type, MONDO:0007634, INTELLECTUAL DEVELOPMENTAL DISORDER, FRA12A TYPE, OMIM:136630
DDG2P v6.17 DHX37 Achchuthan Shanmugasundram edited their review of gene: DHX37: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DHX37-related intellectual disability and central nervous system anomalies are limited, biallelic_autosomal and undetermined (PMID:31256877). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02755.; Changed phenotypes to: DHX37-related intellectual disability and central nervous system anomalies, MONDO:0032888, OMIM:618731.0, Intellectual Disability and Central Nervous System anomalies
DDG2P v6.17 DHX34 Achchuthan Shanmugasundram edited their review of gene: DHX34: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DHX34-related intellectual disability are limited, biallelic_autosomal and undetermined (PMID:31256877). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02758.; Changed phenotypes to: DHX34-related intellectual disability, INTELLECTUAL DISABILITY, OMIM:616579, MONDO:0001071
DDG2P v6.17 DHX30 Achchuthan Shanmugasundram edited their review of gene: DHX30: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DHX30-related neurodevelopmental disorder are strong, monoallelic_autosomal and undetermined (PMID:29100085). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02380.; Changed phenotypes to: Neurodevelopmental Disorder, DHX30-related neurodevelopmental disorder, MONDO:0060622, OMIM:617804.0
DDG2P v6.17 DHX16 Achchuthan Shanmugasundram edited their review of gene: DHX16: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DHX16-related intellectual disability, central nervous system anomalies and seizures are limited, monoallelic_autosomal and undetermined (PMID:31256877). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02756.; Changed phenotypes to: Intellectual Disability, Central Nervous System anomalies and Seizures, DHX16-related intellectual disability, central nervous system anomalies and seizures, OMIM:618733.0
DDG2P v6.17 DHRS3 Achchuthan Shanmugasundram edited their review of gene: DHRS3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DHRS3 related craniosynostosis are limited, biallelic_autosomal and undetermined. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02351.; Changed phenotypes to: MONDO:0015469, DHRS3 related craniosynostosis
DDG2P v6.17 DHPS Achchuthan Shanmugasundram edited their review of gene: DHPS: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DHPS-related neurodevelopmental disorder of hypusination are strong, biallelic_autosomal and undetermined (PMID:30661771). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02644.; Changed phenotypes to: Neurodevelopmental Disorder of Hypusination, DHPS-related neurodevelopmental disorder of hypusination, OMIM:618480.0, MONDO:0032775
DDG2P v6.17 DHFR Achchuthan Shanmugasundram edited their review of gene: DHFR: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DHFR-related megaloblastic anemia due to dihydrofolate reductase deficiency are definitive, biallelic_autosomal and undetermined (PMIDs: 21310276, 21310277). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00614.; Changed phenotypes to: OMIM:613839.0, MONDO:0013456, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, OMIM:613839, DHFR-related megaloblastic anemia due to dihydrofolate reductase deficiency
DDG2P v6.17 DHDDS Achchuthan Shanmugasundram edited their review of gene: DHDDS: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DHDDS-related epilepsy and intellectual disability are strong, monoallelic_autosomal and undetermined (PMID:29100083). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02379.; Changed phenotypes to: OMIM:617836.0, Epilepsy and intellectual disability, MONDO:0044326, DHDDS-related epilepsy and intellectual disability
DDG2P v6.17 DENND5B Achchuthan Shanmugasundram commented on gene: DENND5B: The DDG2P confidence category, allelic requirement and molecular mechanism for DENND5B-related neurodevelopmental disorder with cortical migration and white matter abnormalities are limited, monoallelic_autosomal and loss of function (PMID:38387458). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03547.
DDG2P v6.17 DEAF1 Achchuthan Shanmugasundram edited their review of gene: DEAF1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DEAF1-related intellectual developmental disorder are definitive, monoallelic_autosomal and dominant negative (PMIDs: 21076407, 24726472). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00255. The DDG2P confidence category, allelic requirement and molecular mechanism for DEAF1-related autism, intellectual disability, basal ganglia dysfunction and epilepsy are strong, biallelic_autosomal and loss of function (PMIDs: 26048982, 26834045). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02423.; Changed publications to: 24726472, 21076407, 26048982, 26834045; Changed phenotypes to: OMIM:615828.0, Autism, intellectual disability, basal ganglia dysfunction and epilepsy, OMIM:617171.0, DEAF1-related autism, intellectual disability, basal ganglia dysfunction and epilepsy, INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 24, OMIM:615828, DEAF1-related intellectual developmental disorder
DDG2P v6.17 DDX6 Achchuthan Shanmugasundram edited their review of gene: DDX6: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DDX6-related intellectual disability are strong, monoallelic_autosomal and undetermined (PMID:31422817). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02445.; Changed phenotypes to: MONDO:0032851, DDX6-related intellectual disability, INTELLECTUAL DISABILITY, OMIM:616579, OMIM:618653.0
DDG2P v6.17 DDX59 Achchuthan Shanmugasundram edited their review of gene: DDX59: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DDX59-related orofaciodigital syndrome are strong, biallelic_autosomal and undetermined (PMID:23972372). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01525.; Changed phenotypes to: MONDO:0008267, DDX59-related orofaciodigital syndrome, OMIM:174300.0, OROFACIODIGITAL SYNDROME
DDG2P v6.17 DDX54 Achchuthan Shanmugasundram edited their review of gene: DDX54: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DDX54-related intellectual disability and central nervous system anomalies are limited, biallelic_autosomal and undetermined (PMID:31256877). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02757.; Changed phenotypes to: DDX54-related intellectual disability and central nervous system anomalies, Intellectual Disability and Central Nervous System anomalies
DDG2P v6.17 DDX23 Achchuthan Shanmugasundram edited their review of gene: DDX23: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DDX23-related developmental disorder are moderate, monoallelic_autosomal and undetermined (PMID:33057194). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02872.; Changed phenotypes to: DDX23-related developmental disorder (monoallelic), MONDO:0700092, DDX23-related developmental disorder
DDG2P v6.17 DDR2 Achchuthan Shanmugasundram edited their review of gene: DDR2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DDR2-related spondyloepimetaphyseal dysplasia short limb-hand type are definitive, biallelic_autosomal and undetermined (PMIDs: 19110212, 8434618). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00916.; Changed publications to: 8434618, 19110212; Changed phenotypes to: OMIM:271665.0, SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE, OMIM:271665, DDR2-related spondyloepimetaphyseal dysplasia short limb-hand type, MONDO:0010077
DDG2P v6.17 DDB1 Achchuthan Shanmugasundram edited their review of gene: DDB1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DDB1-related neurodevelopmental syndrome are strong, monoallelic_autosomal and undetermined (PMID:33743206). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03117.; Changed phenotypes to: OMIM:619426.0, DDB1-associated neurodevelopmental syndrome, MONDO:0859169, DDB1-related neurodevelopmental syndrome
DDG2P v6.17 DARS Achchuthan Shanmugasundram edited their review of gene: DARS: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DARS1-related hypomyelination with brain stem and spinal cord involvement and leg spasticity are definitive, biallelic_autosomal and undetermined (PMID:23643384). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01417.; Changed phenotypes to: DARS1-related hypomyelination with brain stem and spinal cord involvement and leg spasticity, MONDO:0014115, HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY., OMIM:615281, OMIM:615281.0
DDG2P v6.17 DAG1 Achchuthan Shanmugasundram edited their review of gene: DAG1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DAG1-related muscular dystrophy-dystroglycanopathy limb-girdle are definitive, biallelic_autosomal and undetermined (PMID:21388311). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00925.; Changed phenotypes to: OMIM:613818.0, MONDO:0013440, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7, OMIM:613818, DAG1-related muscular dystrophy-dystroglycanopathy limb-girdle
DDG2P v6.17 DACT1 Achchuthan Shanmugasundram edited their review of gene: DACT1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DACT1-related multiple malformations of neural tube, ear, genitourinary and gastrointestinal systems are limited, monoallelic_autosomal and loss of function (PMIDs: 22610794, 28054444, 36066768). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02805.; Changed publications to: 36066768, 22610794, 28054444; Changed phenotypes to: OMIM:617466.0, Multiple malformations of neural tube, ear, genitourinary and gastrointestinal systems, DACT1-related multiple malformations of neural tube, ear, genitourinary and gastrointestinal systems, MONDO:0054582
DDG2P v6.17 CYP1B1 Achchuthan Shanmugasundram edited their review of gene: CYP1B1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CYP1B1-related primary congenital glaucoma, type 3A are definitive, biallelic_autosomal and undetermined (PMIDs: 10227395, 12372064, 15342693, 19643970, 19807744, 27777502, 9097971, 9463332, 9497261). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01364.; Changed publications to: 9497261, 12372064, 19807744, 9097971, 15342693, 27777502, 10227395, 9463332, 19643970; Changed phenotypes to: CYP1B1-related primary congenital glaucoma, type 3A, MONDO:0009277, PRIMARY CONGENITAL GLAUCOMA TYPE 3A, OMIM:231300, OMIM:231300.0
DDG2P v6.17 CYFIP2 Achchuthan Shanmugasundram edited their review of gene: CYFIP2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CYFIP2-related epileptic encephalopathy, early infantile are definitive, monoallelic_autosomal and undetermined (PMIDs: 29534297, 29667327, 30664714, 31689829). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02991.; Changed phenotypes to: CYFIP2-related epileptic encephalopathy, early infantile, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, OMIM:618468, OMIM:618008.0, MONDO:0033374
DDG2P v6.17 CYC1 Achchuthan Shanmugasundram edited their review of gene: CYC1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CYC1-related mitochondrial complex III deficiency, nuclear are definitive, biallelic_autosomal and undetermined (PMID:23910460). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00894.; Changed phenotypes to: OMIM:615453.0, CYC1-related mitochondrial complex III deficiency, nuclear, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, OMIM:615453, MONDO:0014194
DDG2P v6.17 CUX2 Achchuthan Shanmugasundram edited their review of gene: CUX2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CUX2-related developmental epileptic encephalopathy are strong, monoallelic_autosomal and undetermined (PMID:29630738). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02420.; Changed phenotypes to: MONDO:0029138, OMIM:618141.0, CUX2-related developmental epileptic encephalopathy, Developmental epileptic encephalopathy
DDG2P v6.17 CUX1 Achchuthan Shanmugasundram edited their review of gene: CUX1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CUX1-related neurodevelopmental disorder are moderate, monoallelic_autosomal and loss of function (PMIDs: 30014507, 37644171). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02990.; Changed rating: GREEN; Changed publications to: 37644171, 30014507; Changed phenotypes to: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT, CUX1-related neurodevelopmental disorder, MONDO:0032680, OMIM:618330.0
DDG2P v6.17 CSNK1G1 Achchuthan Shanmugasundram edited their review of gene: CSNK1G1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CSNK1G1-related early infantile epileptic encephalopathy and microcephaly are limited, monoallelic_autosomal and undetermined (PMID:24463883). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00754.; Changed phenotypes to: CSNK1G1-related early infantile epileptic encephalopathy and microcephaly, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY AND MICROCEPHALY
DDG2P v6.17 CRYBB3 Achchuthan Shanmugasundram edited their review of gene: CRYBB3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CRYBB3-related cataract are definitive, biallelic_autosomal and undetermined (PMIDs: 15914629, 19182255, 23508780, 27326458). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00941.; Changed publications to: 23508780, 19182255, 27326458, 15914629; Changed phenotypes to: OMIM:609741.0, CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2, OMIM:609741, CRYBB3-related cataract, MONDO:0012336
DDG2P v6.17 CRYBA4 Achchuthan Shanmugasundram edited their review of gene: CRYBA4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CRYBA4-related cataract with or wihout microcornea or microphthalmia are definitive, monoallelic_autosomal and undetermined non-loss-of-function (PMIDs: 15452067, 16960806, 20577656). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01130.; Changed rating: GREEN; Changed publications to: 15452067, 16960806, 20577656; Changed phenotypes to: MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4, OMIM:610426, MONDO:0012489, CRYBA4-related cataract with or wihout microcornea or microphthalmia, OMIM:610425.0
DDG2P v6.17 CRLS1 Achchuthan Shanmugasundram edited their review of gene: CRLS1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CRLS1-related mitochondrial disorder are limited, biallelic_autosomal and undetermined (PMID:35147173). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03459.; Changed phenotypes to: OMIM:620167.0, MONDO:0859337, CRLS1-related mitochondrial disorder
DDG2P v6.17 CRKL Achchuthan Shanmugasundram edited their review of gene: CRKL: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CRKL-related bladder exstrophy plus are limited, monoallelic_autosomal and undetermined (PMIDs: 24764164, 30628148, 34355505). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02557.; Changed publications to: 24764164, 30628148, 34355505; Changed phenotypes to: CRKL-related bladder exstrophy plus, Bladder exstrophy plus
DDG2P v6.17 CRELD1 Achchuthan Shanmugasundram edited their review of gene: CRELD1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CRELD1-related atrioventricular septal defect susceptibility are limited, monoallelic_autosomal and undetermined (PMIDs: 12632326, 21080147, 22740159). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01141. The DDG2P confidence category, allelic requirement and molecular mechanism for CRELD1-related neurodevelopmental disorder with hypotonia and seizures are moderate, biallelic_autosomal and undetermined (PMID:37947183). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03532.; Changed publications to: 37947183, 22740159, 12632326, 21080147; Changed phenotypes to: OMIM:606217.0, MONDO:0958329, CRELD1-related atrioventricular septal defect susceptibility, CRELD1-related neurodevelopmental disorder with hypotonia and seizures, MONDO:0011650, OMIM:620771.0, CRELD1-related neurodevelopmental disorder with hypotonia and seizures, OMIM:620771, CRELD1-related atrioventricular septal defect susceptibility, OMIM:606217
DDG2P v6.17 CRADD Achchuthan Shanmugasundram edited their review of gene: CRADD: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CRADD-related intellectual developmental disorder with variant lissencephaly are limited, biallelic_autosomal and undetermined (PMIDs: 22279524, 27773430). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01409.; Changed publications to: 22279524, 27773430; Changed phenotypes to: OMIM:614499.0, MONDO:0013785, CRADD-related intellectual developmental disorder with variant lissencephaly, INTELLECTUAL DEVELOPMENTAL DISORDER, autosomal recessive 34, with variant lissencephaly, OMIM:614499
DDG2P v6.17 CPSF3 Achchuthan Shanmugasundram edited their review of gene: CPSF3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CPSF3-related neurodevelopmental disorder with seizures and microcephaly are moderate, biallelic_autosomal and undetermined (PMID:35121750). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03239.; Changed phenotypes to: CPSF3-associated neurodevelopmental disorder with seizures and microcephaly, CPSF3-related neurodevelopmental disorder with seizures and microcephaly, MONDO:0859250, OMIM:619876.0
DDG2P v6.17 COX18 Achchuthan Shanmugasundram edited their review of gene: COX18: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for COX18-related peripheral neuropathy are limited, biallelic_autosomal and loss of function (PMIDs: 37468577, 38960055, 39006432). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03567.; Changed publications to: 39006432, 38960055, 37468577
DDG2P v6.17 COX10 Achchuthan Shanmugasundram edited their review of gene: COX10: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for COX10-related Leigh syndrome are definitive, biallelic_autosomal and undetermined (PMIDs: 10767350, 12928484, 15455402). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01068.; Changed publications to: 12928484, 10767350, 15455402; Changed phenotypes to: OMIM:619046.0, LEIGH SYNDROME, OMIM:256000, COX10-related Leigh syndrome, MONDO:0033635
DDG2P v6.17 COQ5 Achchuthan Shanmugasundram edited their review of gene: COQ5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for COQ5-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00825.; Changed phenotypes to: MONDO:0700092, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, COQ5-related intellectual developmental disorder
DDG2P v6.17 COPB1 Achchuthan Shanmugasundram edited their review of gene: COPB1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly are limited, biallelic_autosomal and undetermined (PMID:33632302). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03110.; Changed phenotypes to: COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly, MONDO:0031002, OMIM:619255.0
DDG2P v6.17 COL9A3 Achchuthan Shanmugasundram edited their review of gene: COL9A3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for COL9A3-related multiple epiphyseal dysplasia are definitive, monoallelic_autosomal and dominant negative (PMIDs: 10090888, 10655510, 15551337). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01100. The DDG2P confidence category, allelic requirement and molecular mechanism for COL9A3-related Stickler syndrome are limited, biallelic_autosomal and loss of function (PMIDs: 24273071, 30450842, 31090205). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02091.; Changed publications to: 10090888, 24273071, 30450842, 10655510, 31090205, 15551337; Changed phenotypes to: OMIM:600969.0, COL9A3-related Stickler syndrome, OMIM:620022.0, MONDO:0031047, MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3, OMIM:600969, COL9A3-related multiple epiphyseal dysplasia, Stickler syndrome, MONDO:0010964; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.17 COL6A1 Achchuthan Shanmugasundram edited their review of gene: COL6A1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for COL6A1-related myopathy are definitive, monoallelic_autosomal and undetermined (PMIDs: 11932968, 15955946, 36779064, 8782832). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01750.; Changed publications to: 15955946, 36779064, 8782832, 11932968; Changed phenotypes to: MONDO:0024530, COL6A1-related myopathy, COL6A1 associated myopathy, OMIM:158810.0
DDG2P v6.17 COL1A1 Achchuthan Shanmugasundram edited their review of gene: COL1A1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for COL1A1-related osteogenesis imperfecta spectrum are definitive, monoallelic_autosomal and dominant negative (PMIDs: 11286507, 12538651, 15024692, 15728585, 1613761, 1634225, 1737847, 1770532, 18409203, 1864604, 1874719, 1988452, 2037280, 21834035, 2295701, 2298750, 2309707, 2339700, 2500431, 2511192, 2794057, 2913053, 3082886, 3108247, 3403550, 3667599, 7789952, 7816518, 7881420, 8097422, 8100209, 8364588, 8408653, 8456809, 8723681, 8757037, 8786074, 8910493, 8950680, 9067755, 9295084). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00021. The DDG2P confidence category, allelic requirement and molecular mechanism for COL1A1-related Caffey disease are definitive, monoallelic_autosomal and undetermined (PMIDs: 15864348, 34272483). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00575.; Changed publications to: 2511192, 3403550, 9067755, 2309707, 12538651, 1988452, 2500431, 8757037, 8786074, 8910493, 8723681, 8408653, 2339700, 1737847, 8100209, 3082886, 7881420, 34272483, 2913053, 15024692, 9295084, 1874719, 7816518, 1634225, 18409203, 15864348, 2298750, 21834035, 1613761, 15728585, 1864604, 11286507, 3108247, 8950680, 8097422, 2794057, 7789952, 2295701, 3667599, 8364588, 1770532, 8456809, 2037280; Changed phenotypes to: OMIM:166220.0, MONDO:0008148, CAFFEY DISEASE, OMIM:114000, MONDO:0007244, OMIM:114000.0, COL1A1-related Caffey disease, COL1A1-related osteogenesis imperfecta spectrum, COL1A1-RELATED OSTEOGENESIS IMPERFECTA, OMIM:166200
DDG2P v6.17 COL11A2 Achchuthan Shanmugasundram edited their review of gene: COL11A2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for COL11A2-related otospondylomegaepiphyseal dysplasia are definitive, biallelic_autosomal and dominant negative (PMIDs: 10677296, 15558753, 16189708, 16637051, 21204229, 21208667, 32341816, 37347055, 7859284, 9188673). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00117. The DDG2P confidence category, allelic requirement and molecular mechanism for COL11A2-related deafness (monoallelic) are definitive, monoallelic_autosomal and undetermined (PMIDs: 10581026, 10733181, 11177008, 15562903). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00879. The DDG2P confidence category, allelic requirement and molecular mechanism for COL11A2-related deafness (biallelic) are definitive, biallelic_autosomal and undetermined (PMIDs: 16033917, 25633957). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00926. The DDG2P confidence category, allelic requirement and molecular mechanism for COL11A2-related Stickler syndrome are definitive, monoallelic_autosomal and dominant negative (PMIDs: 10718438, 14234962, 15372529, 15558753, 18381781, 22796475, 25780254, 7833911, 9506662, 9805126). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01074.; Changed publications to: 15562903, 10718438, 14234962, 7859284, 16189708, 9506662, 11177008, 9805126, 16033917, 25780254, 15372529, 16637051, 22796475, 18381781, 10581026, 10677296, 32341816, 37347055, 15558753, 9188673, 7833911, 21208667, 25633957, 21204229, 10733181; Changed phenotypes to: DEAFNESS AUTOSOMAL RECESSIVE TYPE 53, OMIM:609706, OMIM:215150.0, COL11A2-related deafness (monoallelic), OMIM:184840.0, STICKLER SYNDROME TYPE 3, OMIM:184840, MONDO:0012333, COL11A2-related deafness (biallelic), MONDO:0044206, MONDO:0008490, AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, OMIM:215150, DEAFNESS AUTOSOMAL DOMINANT TYPE 13, OMIM:601868, COL11A2-related Stickler syndrome, COL11A2-related otospondylomegaepiphyseal dysplasia, OMIM:609706.0
DDG2P v6.17 CNOT9 Achchuthan Shanmugasundram edited their review of gene: CNOT9: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CNOT9-related developmental disorder with seizures are moderate, monoallelic_autosomal and loss of function (PMIDs: 30309886, 37092538). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03501.; Changed publications to: 30309886, 37092538
DDG2P v6.17 CNOT2 Achchuthan Shanmugasundram edited their review of gene: CNOT2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CNOT2-related neurodevelopmental disorder with hypotonia are strong, monoallelic_autosomal and loss of function (PMIDs: 21299754, 31145527, 31512373, 36224108). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03500.; Changed publications to: 36224108, 21299754, 31512373, 31145527; Changed phenotypes to: OMIM:618608.0, MONDO:0032832, CNOT2-related neurodevelopmental disorder with hypotonia
DDG2P v6.17 CNOT1 Achchuthan Shanmugasundram edited their review of gene: CNOT1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CNOT1-related holoprosencephaly with or without pancreatic agenesis are strong, monoallelic_autosomal and undetermined (PMIDs: 31006510, 31006513). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02776. The DDG2P confidence category, allelic requirement and molecular mechanism for CNOT1-related neurodevelopmental disorder are strong, monoallelic_autosomal and undetermined (PMID:32553196). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03009.; Changed phenotypes to: OMIM:619033.0, MONDO:0032787, CNOT1-related neurodevelopmental disorder, OMIM:618500.0, MONDO:0033618, CNOT1-related holoprosencephaly with or without pancreatic agenesis, HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS, OMIM:618500
DDG2P v6.17 CLPP Achchuthan Shanmugasundram edited their review of gene: CLPP: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CLPP-related Perrault syndrome are strong, biallelic_autosomal and undetermined (PMID:23541340). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00456.; Changed phenotypes to: OMIM:614129.0, CLPP-related Perrault syndrome, MONDO:0013588, PERRAULT SYNDROME
DDG2P v6.17 CLP1 Achchuthan Shanmugasundram edited their review of gene: CLP1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CLP1-related pontocerebellar hypoplasia are strong, biallelic_autosomal and undetermined (PMID:24766809). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00820.; Changed phenotypes to: PONTOCEREBELLAR HYPOPLASIA, TYPE 10, OMIM:615803, CLP1-related pontocerebellar hypoplasia, OMIM:615803.0, MONDO:0014349
DDG2P v6.17 CLIC2 Achchuthan Shanmugasundram edited their review of gene: CLIC2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CLIC2-related intellectual developmental disorder are limited, monoallelic_X_hemizygous and undetermined (PMID:22814392). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01667.; Changed phenotypes to: INTELLECTUAL DEVELOPMENTAL DISORDER, X-linked, syndromic 32, OMIM:300886, CLIC2-related intellectual developmental disorder, OMIM:300886.0, MONDO:0010473
DDG2P v6.17 CLDN5 Achchuthan Shanmugasundram edited their review of gene: CLDN5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CLDN5-related neurodevelopmental disorder are limited, monoallelic_autosomal and undetermined (PMIDs: 35714222, 36477332). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03328.; Changed publications to: 36477332, 35714222; Changed phenotypes to: MONDO:0700092, CLDN5-related neurodevelopmental disorder
DDG2P v6.17 CLDN19 Achchuthan Shanmugasundram edited their review of gene: CLDN19: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CLDN19-related hypomagnesemia with ocular involvement are definitive, biallelic_autosomal and undetermined (PMID:17033971). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00685.; Changed phenotypes to: OMIM:248190.0, MONDO:0009548, CLDN19-related hypomagnesemia with ocular involvement, HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, OMIM:248190
DDG2P v6.17 CLCN6 Achchuthan Shanmugasundram edited their review of gene: CLCN6: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CLCN6-related developmental disorder are strong, monoallelic_autosomal and undetermined (PMIDs: 28074849, 29667327, 33217309). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03073.; Changed publications to: 28074849, 29667327, 33217309; Changed phenotypes to: CLCN6-related Developmental Disorder, OMIM:619173.0, CLCN6-related developmental disorder
DDG2P v6.17 CLCN4 Achchuthan Shanmugasundram edited their review of gene: CLCN4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CLCN4-related infantile epileptic encephalopathy and/or intellectual disability are strong, monoallelic_X_hemizygous and undetermined (PMIDs: 23647072, 25644381, 27550844). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01457.; Changed publications to: 23647072, 27550844, 25644381; Changed phenotypes to: OMIM:300114.0, INFANTILE EPILEPTIC ENCEPHALOPATHY AND/OR INTELLECTUAL DISABILITY, CLCN4-related infantile epileptic encephalopathy and/or intellectual disability
DDG2P v6.17 CIT Achchuthan Shanmugasundram edited their review of gene: CIT: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CIT-related primary microcephaly are strong, biallelic_autosomal and undetermined (PMID:27453578). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01871.; Changed phenotypes to: CIT-related primary microcephaly, PRIMARY MICROCEPHALY, OMIM:615414, OMIM:617090.0, MONDO:0014908
DDG2P v6.17 CHRNA2 Achchuthan Shanmugasundram edited their review of gene: CHRNA2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CHRNA2-related nocturnal frontal lobe epilepsy are strong, monoallelic_autosomal and undetermined (PMIDs: 16826524, 25770198, 25847220, 30809122). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00766.; Changed rating: GREEN; Changed publications to: 30809122, 16826524, 25770198, 25847220; Changed phenotypes to: CHRNA2-related nocturnal frontal lobe epilepsy, OMIM:610353.0, CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT, OMIM:291607, MONDO:0012474
DDG2P v6.17 CHRM1 Achchuthan Shanmugasundram edited their review of gene: CHRM1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CHRM1-related intellectual disability are limited, monoallelic_autosomal and undetermined (PMID:34212451). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03213.; Changed phenotypes to: CHRM1-related intellectual disability, MONDO:0001071, CHRM1-associated intellectual disability
DDG2P v6.17 CHD3 Achchuthan Shanmugasundram edited their review of gene: CHD3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CHD3-related macrocephaly and impaired speech and language are strong, monoallelic_autosomal and undetermined (PMIDs: 30397230, 32483341, 33358638, 33571694, 34535214, 35346573, 36565043). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02440.; Changed publications to: 35346573, 36565043, 30397230, 34535214, 32483341, 33358638, 33571694; Changed phenotypes to: MONDO:0032600, Macrocephaly and impaired speech and language, CHD3-related macrocephaly and impaired speech and language, OMIM:618205.0
DDG2P v6.17 CFL2 Achchuthan Shanmugasundram edited their review of gene: CFL2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CFL2-related nemaline myopathy are strong, biallelic_autosomal and undetermined (PMID:17160903). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00394.; Changed phenotypes to: CFL2-related nemaline myopathy, MONDO:0012538, OMIM:610687.0, NEMALINE MYOPATHY 7, OMIM:610687
DDG2P v6.17 CELSR1 Achchuthan Shanmugasundram edited their review of gene: CELSR1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CELSR1-related fetal hydrops are limited, monoallelic_autosomal and loss of function (PMID:38272662). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03683.; Changed phenotypes to: MONDO:0015193, CELSR1-related fetal hydrops
DDG2P v6.17 CDON Achchuthan Shanmugasundram edited their review of gene: CDON: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CDON-related holoprosencephaly are definitive, monoallelic_autosomal and undetermined (PMID:21802063). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00943.; Changed phenotypes to: HOLOPROSENCEPHALY 11, OMIM:614226, MONDO:0013642, OMIM:614226.0, CDON-related holoprosencephaly
DDG2P v6.17 CDK8 Achchuthan Shanmugasundram edited their review of gene: CDK8: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CDK8-related syndromic intellectual disability are definitive, monoallelic_autosomal and undetermined (PMID:30905399). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02783.; Changed phenotypes to: MONDO:0032897, SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100, CDK8-related syndromic intellectual disability, OMIM:618748.0
DDG2P v6.17 CDK19 Achchuthan Shanmugasundram edited their review of gene: CDK19: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CDK19-related intellectual disability and epileptic encephalopathy are strong, monoallelic_autosomal and undetermined (PMID:32330417). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02961.; Changed phenotypes to: CDK19-associated Intellectual Disability and Epileptic Encephalopathy, CDK19-related intellectual disability and epileptic encephalopathy, OMIM:618916.0, MONDO:0030059
DDG2P v6.17 CDK13 Achchuthan Shanmugasundram edited their review of gene: CDK13: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CDK13-related syndromic intellectual disability with or without congenital heart disease are definitive, monoallelic_autosomal and undetermined (PMIDs: 27479907, 28807008, 29021403, 29222009, 29393965, 31883531, 35063350, 35651941, 36599938, 37351084). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01767.; Changed publications to: 35063350, 36599938, 28807008, 31883531, 29021403, 29222009, 27479907, 37351084, 29393965, 35651941; Changed phenotypes to: MONDO:0044302, CDK13-related syndromic intellectual disability with or without congenital heart disease, OMIM:617360.0, Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
DDG2P v6.17 CDH2 Achchuthan Shanmugasundram edited their review of gene: CDH2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CDH2-related syndromic neurodevelopmental disorder with corpus callosum, axon, cardiac, ocular, and genital defects are strong, monoallelic_autosomal and undetermined (PMIDs: 31585109, 31650526). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02812.; Changed phenotypes to: Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects, CDH2-related syndromic neurodevelopmental disorder with corpus callosum, axon, cardiac, ocular, and genital defects, OMIM:618929.0, MONDO:0030065
DDG2P v6.17 CDH1 Achchuthan Shanmugasundram edited their review of gene: CDH1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CDH1-related blepharo-cheiro-dontic syndrome are definitive, monoallelic_autosomal and undetermined (PMID:29348693). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01974.; Changed phenotypes to: Blepharo-cheiro-dontic syndrome, OMIM:119580.0, CDH1-related blepharo-cheiro-dontic syndrome, MONDO:0054740
DDG2P v6.17 CDC42 Achchuthan Shanmugasundram edited their review of gene: CDC42: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CDC42-related neurodevelopmental disorder are definitive, monoallelic_autosomal and undetermined (PMIDs: 26386261, 26708094, 29394990). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02933.; Changed publications to: 26708094, 26386261, 29394990; Changed phenotypes to: CDC42-related neurodevelopmental disorder, CDC42-related Neurodevelopmental Disorder, OMIM:616737.0
DDG2P v6.17 CDC40 Achchuthan Shanmugasundram edited their review of gene: CDC40: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CDC40-related neurodegenerative pontocerebellar hypoplasia with microcephaly are limited, biallelic_autosomal and undetermined (PMID:33220177). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03070.; Changed phenotypes to: CDC40-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly, CDC40-related neurodegenerative pontocerebellar hypoplasia with microcephaly, OMIM:619302.0, MONDO:0030259
DDG2P v6.17 CCDC22 Achchuthan Shanmugasundram edited their review of gene: CCDC22: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CCDC22-related syndromic intellectual disability are strong, monoallelic_X_hemizygous and undetermined (PMIDs: 24916641, 36073196). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01275.; Changed publications to: 36073196, 24916641; Changed phenotypes to: OMIM:300963.0, SYNDROMIC X-LINKED INTELLECTUAL DISABILITY, CCDC22-related syndromic intellectual disability, MONDO:0010499
DDG2P v6.17 CBFB Achchuthan Shanmugasundram edited their review of gene: CBFB: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CBFB-related cleidocranial dysplasia are moderate, monoallelic_autosomal and undetermined (PMID:36241386). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03513.; Changed phenotypes to: OMIM:620099.0, CBFB-related cleidocranial dysplasia, MONDO:0859307
DDG2P v6.17 CAPRIN1 Achchuthan Shanmugasundram edited their review of gene: CAPRIN1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CAPRIN1-related neurodevelopmental disorder are moderate, monoallelic_autosomal and loss of function (PMIDs: 23849776, 35979925). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01316.; Changed publications to: 35979925, 23849776; Changed phenotypes to: CAPRIN1-related neurodevelopmental disorder, OMIM:620782.0, MONDO:0968945
DDG2P v6.17 CAMK2G Achchuthan Shanmugasundram edited their review of gene: CAMK2G: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CAMK2G-related intellectual developmental disorder are strong, monoallelic_autosomal and undetermined (PMIDs: 23033978, 30184290). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02985.; Changed phenotypes to: OMIM:618522.0, MONDO:0032795, INTELLECTUAL DEVELOPMENTAL DISORDER 59, OMIM:618522, CAMK2G-related intellectual developmental disorder
DDG2P v6.17 CACNA2D1 Achchuthan Shanmugasundram edited their review of gene: CACNA2D1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CACNA2D1-related neurodevelopmental disorder are limited, biallelic_autosomal and undetermined (PMID:35293990). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03462.; Changed phenotypes to: CACNA2D1-related neurodevelopmental disorder, MONDO:0859327, OMIM:620149.0
DDG2P v6.17 CACNA1H Achchuthan Shanmugasundram edited their review of gene: CACNA1H: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CACNA1H-related epilepsy, childhood absence, susceptibility to are limited, monoallelic_autosomal and undetermined (PMIDs: 12891677, 17696120). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01454.; Changed publications to: 12891677, 17696120; Changed phenotypes to: OMIM:611942.0, MONDO:0012763, EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6, OMIM:611942, CACNA1H-related epilepsy, childhood absence, susceptibility to
DDG2P v6.17 CACNA1A Achchuthan Shanmugasundram edited their review of gene: CACNA1A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CACNA1A-related epileptic encephalopathy are strong, monoallelic_autosomal and undetermined (PMIDs: 11342703, 11812585, 23934111, 27476654, 28742085, 28927557, 29366381). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00626.; Changed publications to: 29366381, 11812585, 23934111, 27476654, 28927557, 11342703, 28742085; Changed phenotypes to: CACNA1A-related epileptic encephalopathy, MONDO:0014917, EPILEPTIC ENCEPHALOPATHY, OMIM:617106.0
DDG2P v6.17 C1QBP Achchuthan Shanmugasundram edited their review of gene: C1QBP: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for C1QBP-related severe neonatal-, childhood-, or later-onset cardiomyopathy associated with combined respiratory-chain deficiencies are strong, biallelic_autosomal and undetermined (PMID:28942965). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02371.; Changed phenotypes to: Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies, MONDO:0054677, OMIM:617713.0, C1QBP-related severe neonatal-, childhood-, or later-onset cardiomyopathy associated with combined respiratory-chain deficiencies
DDG2P v6.17 C12orf57 Achchuthan Shanmugasundram edited their review of gene: C12orf57: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for C12orf57-related Temtamy syndrome; coloboma, hypoplastic corpus callosum, and intellectual disability are strong, biallelic_autosomal and undetermined (PMIDs: 23453666, 24798461). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00263.; Changed publications to: 23453666, 24798461; Changed phenotypes to: COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY, OMIM:218340, coloboma, hypoplastic corpus callosum, and intellectual disability, TEMTAMY SYNDROME, MONDO:0009033, C12orf57-related Temtamy syndrome, OMIM:218340.0
DDG2P v6.17 BSN Achchuthan Shanmugasundram edited their review of gene: BSN: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for BSN-related epilepsy are limited, monoallelic_autosomal and undetermined (PMID:36600631). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03460. The DDG2P confidence category, allelic requirement and molecular mechanism for BSN-related epilepsy are limited, biallelic_autosomal and undetermined (PMID:36600631). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03461.; Changed phenotypes to: BSN-related epilepsy, MONDO:0005027
DDG2P v6.17 BORCS8 Achchuthan Shanmugasundram edited their review of gene: BORCS8: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for BORCS8-related early-infantile neurological disorder with severe intellectual disability, hypotonia and congenital heart disease are moderate, biallelic_autosomal and loss of function (PMID:38128568). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03556.; Changed phenotypes to: OMIM:620987.0, BORCS8-related early-infantile neurological disorder with severe intellectual disability, hypotonia and congenital heart disease, MONDO:0975837
DDG2P v6.17 KIAA1109 Achchuthan Shanmugasundram edited their review of gene: KIAA1109: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for BLTP1-related brain atrophy, dandy walker and contractures are strong, biallelic_autosomal and undetermined (PMIDs: 25558065, 29290337). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01979.; Changed publications to: 29290337, 25558065; Changed phenotypes to: OMIM:617822.0, BLTP1-related brain atrophy, dandy walker and contractures, MONDO:0060631, Brain atrophy, Dandy Walker and Contractures
DDG2P v6.17 BICD2 Achchuthan Shanmugasundram edited their review of gene: BICD2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for BICD2-related proximal spinal muscular atrophy with brain anomalies are definitive, monoallelic_autosomal and undetermined (PMID:23664120). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00609.; Changed phenotypes to: OMIM:615290.0, BICD2-related proximal spinal muscular atrophy with brain anomalies, Proximal spinal muscular atrophy with brain anomalies
DDG2P v6.17 BHLHA9 Achchuthan Shanmugasundram edited their review of gene: BHLHA9: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for BHLHA9-related mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type are definitive, biallelic_autosomal and dominant negative (PMIDs: 25466284, 29263794, 30107244, 31152918, 31912643, 34272776, 36565049). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00920. The DDG2P confidence category, allelic requirement and molecular mechanism for BHLHA9-related split hand and foot malformation are definitive, monoallelic_autosomal and undetermined (PMIDs: 22147889, 23790188). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02025.; Changed publications to: 25466284, 29263794, 34272776, 31152918, 23790188, 31912643, 22147889, 30107244, 36565049; Changed phenotypes to: BHLHA9-related split hand and foot malformation, MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE, OMIM:69432, BHLHA9-related mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type, SPLIT HAND AND FOOT MALFORMATION, OMIM:220600, OMIM:609432.0, MONDO:0012271, MONDO:0016576
DDG2P v6.17 BFSP2 Achchuthan Shanmugasundram edited their review of gene: BFSP2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for BFSP2-related cataract are definitive, monoallelic_autosomal and undetermined (PMIDs: 10634598, 10729115, 21836522). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00555.; Changed publications to: 21836522, 10729115, 10634598; Changed phenotypes to: CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED, OMIM:611597, OMIM:611597.0, MONDO:0012701, BFSP2-related cataract
DDG2P v6.17 BCORL1 Achchuthan Shanmugasundram edited their review of gene: BCORL1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for BCORL1-related Shukla-Vernon syndrome are limited, monoallelic_X_hemizygous and undetermined (PMIDs: 24123876, 30941876, 33810051, 34400773). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02922.; Changed publications to: 30941876, 33810051, 24123876, 34400773; Changed phenotypes to: MONDO:0026727, BCORL1-related Shukla-Vernon syndrome, OMIM:301029.0, Shukla-Vernon Syndrome
DDG2P v6.17 BAP1 Achchuthan Shanmugasundram edited their review of gene: BAP1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for BAP1-related neurodevelopmental syndrome are moderate, monoallelic_autosomal and undetermined (PMID:35051358). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03243.; Changed phenotypes to: MONDO:0859230, BAP1-associated neurodevelopmental syndrome, BAP1-related neurodevelopmental syndrome, OMIM:619762.0
DDG2P v6.17 BANF1 Achchuthan Shanmugasundram edited their review of gene: BANF1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for BANF1-related Nestor-Guillermo progeria syndrome are moderate, biallelic_autosomal and loss of function (PMIDs: 21549337, 21932319, 32783369, 36039758, 36842139). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00506.; Changed publications to: 32783369, 36039758, 21932319, 36842139, 21549337; Changed phenotypes to: BANF1-related Nestor-Guillermo progeria syndrome, OMIM:614008.0, NESTOR-GUILLERMO PROGERIA SYNDROME, OMIM:614008, MONDO:0013523
DDG2P v6.17 B3GAT3 Achchuthan Shanmugasundram edited their review of gene: B3GAT3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for B3GAT3-related multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects are limited, biallelic_autosomal and undetermined (PMID:31438591). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02786.; Changed phenotypes to: MONDO:0009511, OMIM:245600.0, B3GAT3-related multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS, OMIM:245600
DDG2P v6.17 AXIN1 Achchuthan Shanmugasundram edited their review of gene: AXIN1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for AXIN1-related caudal duplication anomaly are limited, monoallelic_autosomal and undetermined (PMIDs: 12376942, 16773576). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00854.; Changed publications to: 16773576, 12376942; Changed phenotypes to: CAUDAL DUPLICATION ANOMALY, OMIM:607864, AXIN1-related caudal duplication anomaly, OMIM:607864.0, MONDO:0011928
DDG2P v6.17 ATP8A2 Achchuthan Shanmugasundram edited their review of gene: ATP8A2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ATP8A2-related cerebellar ataxia, intellectual developmental disorder, and dysequilibrium syndrome are limited, biallelic_autosomal and undetermined (PMIDs: 16075202, 22892528). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01367.; Changed phenotypes to: ATP8A2-related cerebellar ataxia, intellectual developmental disorder, and dysequilibrium syndrome, OMIM:615268.0, CEREBELLAR ATAXIA, INTELLECTUAL DEVELOPMENTAL DISORDER, AND DYSEQUILIBRIUM SYNDROME 4, OMIM:615268, MONDO:0014104
DDG2P v6.17 ATP6V1E1 Achchuthan Shanmugasundram edited their review of gene: ATP6V1E1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ATP6V1E1-related cutis laxa are strong, biallelic_autosomal and undetermined (PMID:28065471). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02591.; Changed phenotypes to: OMIM:617402.0, ATP6V1E1-related cutis laxa, MONDO:0027462, Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal Recessive Cutis Laxa
DDG2P v6.17 ATP6V1A Achchuthan Shanmugasundram edited their review of gene: ATP6V1A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ATP6V1A-related cutis laxa are strong, biallelic_autosomal and undetermined (PMIDs: 28065471, 33320377). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02592. The DDG2P confidence category, allelic requirement and molecular mechanism for ATP6V1A-related epileptic encephalopathy, infantile or early childhood are definitive, monoallelic_autosomal and undetermined (PMIDs: 29668857, 32045939). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02984.; Changed publications to: 28065471, 29668857, 32045939, 33320377; Changed phenotypes to: Autosomal Recessive Cutis Laxa, OMIM:617403.0, OMIM:618012.0, ATP6V1A-related epileptic encephalopathy, infantile or early childhood, MONDO:0020632, ATP6V1A-related cutis laxa, MONDO:0027451, EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3, OMIM:618012
DDG2P v6.17 ATP6V0A1 Achchuthan Shanmugasundram edited their review of gene: ATP6V0A1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ATP6V0A1-related developmental disorder are definitive, monoallelic_autosomal and undetermined (PMIDs: 28135719, 30842224, 33057194). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02891.; Changed publications to: 30842224, 33057194, 28135719; Changed phenotypes to: OMIM:619970.0, MONDO:0031021, ATP6V0A1-related developmental disorder (monoallelic), ATP6V0A1-related developmental disorder
DDG2P v6.17 ATP6AP2 Achchuthan Shanmugasundram edited their review of gene: ATP6AP2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ATP6AP2-related intellectual developmental disorder with epilepsy are limited, monoallelic_X_hemizygous and undetermined (PMIDs: 15746149, 26467484, 30985297, 35779466, 38274877). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01458.; Changed publications to: 35779466, 26467484, 38274877, 30985297, 15746149; Changed phenotypes to: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED WITH EPILEPSY, OMIM:300423, ATP6AP2-related intellectual developmental disorder with epilepsy, MONDO:0010319, OMIM:300423.0
DDG2P v6.17 ATP5D Achchuthan Shanmugasundram edited their review of gene: ATP5D: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ATP5F1D-related metabolic disorder are strong, biallelic_autosomal and undetermined (PMID:29478781). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02597.; Changed phenotypes to: OMIM:618120.0, MONDO:0020858, ATP5F1D-related metabolic disorder, ATP5F1D metabolic disorder
DDG2P v6.17 ATP5A1 Achchuthan Shanmugasundram edited their review of gene: ATP5A1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ATP5F1A-related failure to thrive, hyperlactatemia and hyperammonemia are strong, monoallelic_autosomal and undetermined (PMID:34483339). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03218. The DDG2P confidence category, allelic requirement and molecular mechanism for ATP5F1A-related mitochondrial encephalopathy are strong, biallelic_autosomal and undetermined (PMIDs: 23596069, 23599390). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03219.; Changed publications to: 34483339, 23596069, 23599390; Changed phenotypes to: ATP5F1A-related failure to thrive, hyperlactatemia and hyperammonemia, ATP5F1A-related mitochondrial encephalopathy, OMIM:615228.0, OMIM:620358.0, MONDO:0014091, ATP5F1A-related mitochondrial encephalopathy, OMIM:615228, MONDO:0957254
DDG2P v6.17 ATP1A3 Achchuthan Shanmugasundram edited their review of gene: ATP1A3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ATP1A3-related alternating hemiplegia of childhood are strong, monoallelic_autosomal and undetermined (PMIDs: 22842232, 33880529). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01055.; Changed phenotypes to: MONDO:0013900, OMIM:614820.0, ALTERNATING HEMIPLEGIA OF CHILDHOOD, OMIM:104290, ATP1A3-related alternating hemiplegia of childhood
DDG2P v6.17 ATP1A1 Achchuthan Shanmugasundram edited their review of gene: ATP1A1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ATP1A1-related renal hypomagnesemia refractory seizures and intellectual disability are strong, monoallelic_autosomal and undetermined (PMID:30388404). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02626.; Changed phenotypes to: ATP1A1-related renal hypomagnesemia refractory seizures and intellectual disability, MONDO:0020788, Renal Hypomagnesemia Refractory Seizures and Intellectual Disability, OMIM:618314.0
DDG2P v6.17 ATOH7 Achchuthan Shanmugasundram edited their review of gene: ATOH7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ATOH7-related persistent hyperplastic primary vitreous are strong, biallelic_autosomal and loss of function (PMIDs: 21441919, 22068589, 22645276, 26933893, 28192794). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00770.; Changed publications to: 21441919, 26933893, 28192794, 22068589, 22645276; Changed phenotypes to: ATOH7-related persistent hyperplastic primary vitreous, OMIM:221900, ATOH7-related persistent hyperplastic primary vitreous, OMIM:221900.0, MONDO:0009097
DDG2P v6.17 ATN1 Achchuthan Shanmugasundram edited their review of gene: ATN1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ATN1-related congenital hypotonia, epilepsy, developmental delay, digit abnormalities are strong, monoallelic_autosomal and undetermined (PMID:30827498). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02647.; Changed phenotypes to: MONDO:0032781, ATN1-related congenital hypotonia, epilepsy, developmental delay, digit abnormalities, congenital hypotonia, epilepsy, developmental delay, digit abnormalities, OMIM:618494.0
DDG2P v6.17 ATG4D Achchuthan Shanmugasundram edited their review of gene: ATG4D: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ATG4D-related neurodevelopmental disorder are limited, biallelic_autosomal and undetermined (PMID:36765070). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03428.; Changed phenotypes to: ATG4D-related neurodevelopmental disorder, MONDO:0700092
DDG2P v6.17 ASH1L Achchuthan Shanmugasundram edited their review of gene: ASH1L: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ASH1L-related intellectual disability are strong, monoallelic_autosomal and undetermined (PMIDs: 25961944, 28394464, 29276005, 29753921, 31673123, 34373061, 35241855). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01097.; Changed publications to: 28394464, 29753921, 29276005, 35241855, 31673123, 25961944, 34373061; Changed phenotypes to: ASH1L-related intellectual disability, OMIM:617796.0, MONDO:0030918, INTELLECTUAL DISABILITY, OMIM:616579
DDG2P v6.17 ASCL1 Achchuthan Shanmugasundram edited their review of gene: ASCL1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ASCL1-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00387.; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, MONDO:0700092, ASCL1-related intellectual developmental disorder
DDG2P v6.17 ASCC3 Achchuthan Shanmugasundram edited their review of gene: ASCC3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ASCC3-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00133.; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, ASCC3-related intellectual developmental disorder, OMIM:620700.0, MONDO:0958204
DDG2P v6.17 ARPC4 Achchuthan Shanmugasundram edited their review of gene: ARPC4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ARPC4-related microcephaly and developmental delay are strong, monoallelic_autosomal and undetermined (PMIDs: 35047857, 36513617). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03238.; Changed publications to: 35047857, 36513617; Changed phenotypes to: OMIM:620141.0, MONDO:0859324, ARPC4-related microcephaly and developmental delay
DDG2P v6.17 ARL3 Achchuthan Shanmugasundram edited their review of gene: ARL3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ARL3-related Joubert syndrome are strong, biallelic_autosomal and undetermined (PMID:30269812). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02622.; Changed phenotypes to: ARL3-related Joubert syndrome, MONDO:0032570, JOUBERT SYNDROME, OMIM:614615, OMIM:618161.0
DDG2P v6.17 ARL14EP Achchuthan Shanmugasundram edited their review of gene: ARL14EP: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ARL14EP-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00194.; Changed phenotypes to: MONDO:0700092, ARL14EP-related intellectual developmental disorder, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER
DDG2P v6.17 ARF1 Achchuthan Shanmugasundram edited their review of gene: ARF1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ARF1-related periventricular nodular heterotopia are strong, monoallelic_autosomal and undetermined (PMIDs: 28868155, 33057194, 34353862). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02983.; Changed publications to: 28868155, 33057194, 34353862; Changed phenotypes to: OMIM:618185.0, PERIVENTRICULAR NODULAR HETEROTOPIA 8, OMIM:618615, MONDO:0032588, ARF1-related periventricular nodular heterotopia
DDG2P v6.17 AP2S1 Achchuthan Shanmugasundram edited their review of gene: AP2S1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for AP2S1-related developmental disorder are moderate, monoallelic_autosomal and undetermined (PMID:33057194). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02867.; Changed phenotypes to: AP2S1-related developmental disorder, MONDO:0700092, AP2S1-related developmental disorder (monoallelic)
DDG2P v6.17 AP2M1 Achchuthan Shanmugasundram edited their review of gene: AP2M1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for AP2M1-related developmental and epileptic encephalopathy are strong, monoallelic_autosomal and undetermined (PMID:31104773). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02769.; Changed phenotypes to: MONDO:0032823, Developmental and Epileptic Encephalopathy, AP2M1-related developmental and epileptic encephalopathy, OMIM:618587.0
DDG2P v6.17 AP1B1 Achchuthan Shanmugasundram edited their review of gene: AP1B1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for AP1B1-related keratitis-ichthyosis-deafness syndrome (KIDAR) are moderate, biallelic_autosomal and undetermined (PMIDs: 31630788, 31630791, 33349978, 33452671, 35144013). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02834.; Changed rating: GREEN; Changed publications to: 31630788, 33349978, 33452671, 35144013, 31630791; Changed phenotypes to: MEDNIK-like Syndrome, AP1B1-related keratitis-ichthyosis-deafness syndrome (KIDAR), MONDO:0009440, OMIM:242150.0
DDG2P v6.17 ANO3 Achchuthan Shanmugasundram edited their review of gene: ANO3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ANO3-related dystonia are limited, monoallelic_autosomal and undetermined (PMIDs: 33502045, 38079528). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03570.; Changed publications to: 33502045, 38079528; Changed phenotypes to: OMIM:615034.0, ANO3-related dystonia, ANO3-related dystonia, OMIM:615034, MONDO:0014019
DDG2P v6.17 ANKRD26 Achchuthan Shanmugasundram edited their review of gene: ANKRD26: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ANKRD26-related thrombocytopenia are strong, monoallelic_autosomal and undetermined (PMIDs: 10521306, 21211618). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00781.; Changed phenotypes to: OMIM:188000.0, THROMBOCYTOPENIA 2, OMIM:188000, ANKRD26-related thrombocytopenia, MONDO:0008555
DDG2P v6.17 ANKRD11 Achchuthan Shanmugasundram edited their review of gene: ANKRD11: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ANKRD11-related KBG syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 21782149, 23184435, 23494856, 25424714, 25464108, 25543316, 25652421, 25838844, 26269249, 27667800, 27900361, 28250421, 28449295, 28566769, 28815928, 29224748, 30088855, 30877071, 31566922, 32820523, 33262785, 33354850, 33476899, 33653342, 33955014, 34247373, 34547584, 35394473, 35598261, 35682590, 35833929, 36584991, 36628575, 37665295). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00381.; Changed publications to: 25543316, 31566922, 28250421, 37665295, 29224748, 23184435, 36628575, 34547584, 25652421, 28449295, 25464108, 30088855, 33354850, 33955014, 28815928, 21782149, 25424714, 35682590, 35833929, 25838844, 36584991, 23494856, 33262785, 32820523, 35394473, 34247373, 27667800, 33653342, 30877071, 26269249, 28566769, 33476899, 27900361, 35598261; Changed phenotypes to: OMIM:148050.0, KBG SYNDROME, OMIM:148050, ANKRD11-related KBG syndrome, MONDO:0007846
DDG2P v6.17 ANGPT2 Achchuthan Shanmugasundram commented on gene: ANGPT2: The DDG2P confidence category, allelic requirement and molecular mechanism for ANGPT2-related non-immune hydrops fetalis are limited, biallelic_autosomal and loss of function (PMID:34876502). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03493.
DDG2P v6.17 AMOTL1 Achchuthan Shanmugasundram edited their review of gene: AMOTL1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for AMOTL1-related orofacial clefting, cardiac anomalies, and tall stature are moderate, monoallelic_autosomal and undetermined (PMID:36751037). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03429.; Changed phenotypes to: AMOTL1-related orofacial clefting, cardiac anomalies, and tall stature, MONDO:0971064
DDG2P v6.17 ALPL Achchuthan Shanmugasundram edited their review of gene: ALPL: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ALPL-related hypophosphatasia are definitive, biallelic_autosomal and loss of function (PMIDs: 14982838, 3174660, 33093890, 33101980, 33160095). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00284.; Changed publications to: 33101980, 33160095, 14982838, 3174660, 33093890; Changed phenotypes to: MONDO:0018570, HYPOPHOSPHATASIA, OMIM:241500, ALPL-related hypophosphatasia
DDG2P v6.17 ALG13 Achchuthan Shanmugasundram edited their review of gene: ALG13: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ALG13-related congenital disorder of glycosylation are strong, monoallelic_X_heterozygous and undetermined (PMIDs: 22492991, 23934111, 28887793). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01271.; Changed publications to: 28887793, 23934111, 22492991; Changed phenotypes to: OMIM:300884.0, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IS, OMIM:300884, MONDO:0010472, ALG13-related congenital disorder of glycosylation
DDG2P v6.17 ALDOA Achchuthan Shanmugasundram edited their review of gene: ALDOA: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ALDOA-related glycogen storage disease are definitive, biallelic_autosomal and undetermined (PMIDs: 2825199, 8598869). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00859.; Changed publications to: 8598869, 2825199; Changed phenotypes to: ALDOA-related glycogen storage disease, MONDO:0012747, OMIM:611881.0, GLYCOGEN STORAGE DISEASE XII, OMIM:611881
DDG2P v6.17 ALDH1A2 Achchuthan Shanmugasundram edited their review of gene: ALDH1A2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ALDH1A2-related diaphragmatic hernia and pulmonary hypoplasia are strong, biallelic_autosomal and undetermined (PMID:33565183). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03158.; Changed phenotypes to: MONDO:0859571, OMIM:620025.0, ALDH1A2-related diaphragmatic hernia and pulmonary hypoplasia
DDG2P v6.17 ALAD Achchuthan Shanmugasundram edited their review of gene: ALAD: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ALAD-related acute hepatic porphyria are limited, biallelic_autosomal and undetermined (PMID:2063868). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00549.; Changed phenotypes to: ALAD-related acute hepatic porphyria, ACUTE HEPATIC PORPHYRIA, OMIM:612740, MONDO:0013000, OMIM:612740.0
DDG2P v6.17 AKT3 Achchuthan Shanmugasundram edited their review of gene: AKT3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for AKT3-related hemimegalencephaly are strong, monoallelic_autosomal and undetermined (PMIDs: 22500628, 22729224). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01092.; Changed phenotypes to: AKT3-related hemimegalencephaly, OMIM:603387.0, HEMIMEGALENCEPHALY AKT3, OMIM:603387, MONDO:0011313
DDG2P v6.17 AKT2 Achchuthan Shanmugasundram edited their review of gene: AKT2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for AKT2-related hypoinsulinemic hypoglycemia and hemihypertrophy are definitive, monoallelic_autosomal and undetermined (PMIDs: 21979934, 24285683, 26003998, 28541532). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03220.; Changed publications to: 21979934, 26003998, 24285683, 28541532; Changed phenotypes to: MONDO:0009416, AKT2-related hypoinsulinemic hypoglycemia and hemihypertrophy, OMIM:240900.0, AKT2-related hypoinsulinemic hypoglycemia and hemihypertrophy, OMIM:240900
DDG2P v6.17 AIFM1 Achchuthan Shanmugasundram edited their review of gene: AIFM1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for AIFM1-related combined oxidative phosphorylation deficiency are strong, monoallelic_X_hemizygous and undetermined (PMIDs: 20362274, 23217327). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01641.; Changed phenotypes to: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, OMIM:300816, OMIM:300816.0, AIFM1-related combined oxidative phosphorylation deficiency
DDG2P v6.17 AGPS Achchuthan Shanmugasundram edited their review of gene: AGPS: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for AGPS-related rhizomelic chondrodysplasia punctata are definitive, biallelic_autosomal and loss of function (PMIDs: 11152660, 21990100, 24849933, 35986576, 7807941). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00018.; Changed publications to: 7807941, 21990100, 35986576, 11152660, 24849933; Changed phenotypes to: MONDO:0010823, OMIM:600121.0, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3, OMIM:600121, AGPS-related rhizomelic chondrodysplasia punctata
DDG2P v6.17 AGO1 Achchuthan Shanmugasundram edited their review of gene: AGO1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for AGO1-related developmental disorder are strong, monoallelic_autosomal and undetermined (PMID:35060114). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02852.; Changed phenotypes to: AGO1-related developmental disorder (monoallelic), AGO1-related developmental disorder, OMIM:620292.0, MONDO:0859531
DDG2P v6.17 AFG3L2 Achchuthan Shanmugasundram edited their review of gene: AFG3L2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for AFG3L2-related ataxia and seizures are definitive, biallelic_autosomal and loss of function (PMIDs: 22022284, 28449981, 31111429, 32237276, 32248051). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03166.; Changed rating: GREEN; Changed publications to: 22022284, 32237276, 31111429, 32248051, 28449981; Changed phenotypes to: MONDO:0013776, AFG3L2-related ataxia and seizures, OMIM:614487.0, AFG3L2-related ataxia and seizures, OMIM:614487
DDG2P v6.17 AFF3 Achchuthan Shanmugasundram edited their review of gene: AFF3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for AFF3-related KINSSHIP syndrome are strong, monoallelic_autosomal and undetermined (PMIDs: 33961779, 36576140, 38811945). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01978. The DDG2P confidence category, allelic requirement and molecular mechanism for AFF3-related intellectual disability are moderate, monoallelic_autosomal and undetermined (PMID:38811945). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03581.; Changed publications to: 33961779, 38811945, 36576140; Changed phenotypes to: AFF3-related intellectual disability, MONDO:0001071, AFF3-related KINSSHIP syndrome, OMIM:619297, AFF3-related KINSSHIP syndrome, OMIM:619297.0, MONDO:0851095
DDG2P v6.17 ADSL Achchuthan Shanmugasundram edited their review of gene: ADSL: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ADSL-related adenylosuccinase deficiency are definitive, biallelic_autosomal and undetermined (PMIDs: 10090474, 12016589, 18830228, 6150139, 9545543). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00673.; Changed publications to: 9545543, 6150139, 18830228, 12016589, 10090474; Changed phenotypes to: ADSL-related adenylosuccinase deficiency, ADENYLOSUCCINASE DEFICIENCY, OMIM:103050, OMIM:103050.0
DDG2P v6.17 ADRA2B Achchuthan Shanmugasundram edited their review of gene: ADRA2B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ADRA2B-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00688.; Changed phenotypes to: ADRA2B-related intellectual developmental disorder, MONDO:0700092, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER
DDG2P v6.17 ADK Achchuthan Shanmugasundram edited their review of gene: ADK: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ADK-related intellectual developmental disorder are limited, biallelic_autosomal and undetermined (PMID:21937992). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00813.; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:614300.0, MONDO:0100255, ADK-related intellectual developmental disorder
DDG2P v6.17 ADCY5 Achchuthan Shanmugasundram edited their review of gene: ADCY5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ADCY5-related developmental disorder are strong, monoallelic_autosomal and undetermined. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02885.; Changed phenotypes to: ADCY5-related developmental disorder, MONDO:0700092, ADCY5-related developmental disorder (monoallelic)
DDG2P v6.17 ADARB1 Achchuthan Shanmugasundram edited their review of gene: ADARB1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ADARB1-related microcephaly, intellectual disability, and seizures are limited, biallelic_autosomal and undetermined (PMID:32220291). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02943.; Changed phenotypes to: ADARB1-related microcephaly, intellectual disability, and seizures, OMIM:618862.0, MONDO:0030025, ADARB1-associated Microcephaly, Intellectual Disability, and Seizures
DDG2P v6.17 ADAMTS9 Achchuthan Shanmugasundram edited their review of gene: ADAMTS9: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ADAMTS9-related nephronophthisis related ciliopathy are strong, biallelic_autosomal and undetermined (PMID:30609407). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02635.; Changed phenotypes to: MONDO:0009728, ADAMTS9-related nephronophthisis related ciliopathy, Nephronophthisis Related Ciliopathy
DDG2P v6.17 ADAMTS18 Achchuthan Shanmugasundram edited their review of gene: ADAMTS18: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ADAMTS18-related microcornea, myopic chorioretinal atrophy, and telecanthus are definitive, biallelic_autosomal and loss of function (PMIDs: 22686506, 23818446, 24874986). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02048.; Changed phenotypes to: Microcornea, myopic chorioretinal atrophy, and telecanthus, OMIM:615458, OMIM:615458.0, MONDO:0014195, ADAMTS18-related microcornea, myopic chorioretinal atrophy, and telecanthus
DDG2P v6.17 ACVR2B Achchuthan Shanmugasundram edited their review of gene: ACVR2B: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ACVR2B-related heterotaxy syndrome are limited, monoallelic_autosomal and undetermined (PMIDs: 21864452, 30622330, 9916847). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00465.; Changed publications to: 30622330, 21864452, 9916847; Changed phenotypes to: OMIM:613751.0, MONDO:0013403, HETEROTAXY SYNDROME, OMIM:207574, ACVR2B-related heterotaxy syndrome
DDG2P v6.17 ACTC1 Achchuthan Shanmugasundram edited their review of gene: ACTC1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ACTC1-related distal arthrogryposis with congenital heart disease are moderate, monoallelic_autosomal and loss of function (PMIDs: 37457373, 38278647). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03543.; Changed publications to: 37457373, 38278647
DDG2P v6.17 ACTA2 Achchuthan Shanmugasundram edited their review of gene: ACTA2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ACTA2-related Moyamoya disease are strong, monoallelic_autosomal and undetermined (PMID:35567597). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00398.; Changed phenotypes to: MONDO:0013542, OMIM:614042.0, MOYAMOYA DISEASE 5, OMIM:614042, ACTA2-related Moyamoya disease
DDG2P v6.17 ACTA1 Achchuthan Shanmugasundram edited their review of gene: ACTA1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ACTA1-related nemaline myopathy are strong, biallelic_autosomal and undetermined (PMID:10508519). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01161.; Changed phenotypes to: OMIM:161800.0, ACTA1-related nemaline myopathy, MONDO:0008070, NEMALINE MYOPATHY 3, OMIM:161800
DDG2P v6.17 ACBD6 Achchuthan Shanmugasundram edited their review of gene: ACBD6: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ACBD6-related intellectual developmental disorder are strong, biallelic_autosomal and loss of function (PMIDs: 21937992, 26748517, 36457943, 37951597). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00748.; Changed rating: GREEN; Changed publications to: 26748517, 21937992, 36457943, 37951597; Changed phenotypes to: ACBD6-related intellectual developmental disorder, MONDO:0968976, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:620785.0
DDG2P v6.17 ACADS Achchuthan Shanmugasundram edited their review of gene: ACADS: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ACADS-related short chain acyl-CoA dehydrogenase deficiency are definitive, biallelic_autosomal and undetermined (PMID:2808706). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00672.; Changed phenotypes to: OMIM:201470.0, MONDO:0008722, SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY, OMIM:201470, ACADS-related short chain acyl-CoA dehydrogenase deficiency
DDG2P v6.17 ABCC9 Achchuthan Shanmugasundram edited their review of gene: ABCC9: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ABCC9-related Cantu Syndrome are definitive, monoallelic_autosomal and gain of function (PMIDs: 22608503, 22610116, 30089727, 31175705, 31828977, 33529173, 34453476). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03442. The DDG2P confidence category, allelic requirement and molecular mechanism for ABCC9-related intellectual disability, myopathy and white matter abnormalities are moderate, biallelic_autosomal and loss of function (PMIDs: 31575858, 38217872). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03920.; Changed publications to: 31175705, 34453476, 31575858, 30089727, 31828977, 22608503, 33529173, 22610116, 38217872; Changed phenotypes to: OMIM:619719.0, MONDO:0009406, MONDO:0859224, CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, OMIM:239850, ABCC9-related intellectual disability, myopathy and white matter abnormalities, OMIM:239850.0, ABCC9-related Cantu Syndrome; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v6.17 ABCB7 Achchuthan Shanmugasundram edited their review of gene: ABCB7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ABCB7-related anemia, sideroblastic, with ataxia are definitive, monoallelic_X_hemizygous and undetermined (PMIDs: 10196363, 11843825, 22398176, 26242992, 34354969). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00928.; Changed publications to: 10196363, 26242992, 22398176, 11843825, 34354969; Changed phenotypes to: ABCB7-related anemia, sideroblastic, with ataxia, OMIM:301310.0, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, OMIM:301310
DDG2P v6.17 ABCB6 Achchuthan Shanmugasundram edited their review of gene: ABCB6: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ABCB6-related microphthalmia, isolated, with coloboma are limited, monoallelic_autosomal and undetermined (PMID:22226084). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00318.; Changed phenotypes to: OMIM:614497.0, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7, OMIM:614497, ABCB6-related microphthalmia, isolated, with coloboma, MONDO:0013783
DDG2P v6.16 ZNRF3 Achchuthan Shanmugasundram gene: ZNRF3 was added
gene: ZNRF3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ZNRF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZNRF3 were set to 39168120
Phenotypes for gene: ZNRF3 were set to ZNRF3-related neurodevelopmental disorder with macrocephaly; MONDO:0100038
Mode of pathogenicity for gene: ZNRF3 was set to Other
DDG2P v6.16 XPO1 Achchuthan Shanmugasundram gene: XPO1 was added
gene: XPO1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: XPO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: XPO1 were set to 36807877; 40819229
Phenotypes for gene: XPO1 were set to XPO1-related neurodevelopmental disorder with microcephaly
DDG2P v6.16 WIPI2 Achchuthan Shanmugasundram gene: WIPI2 was added
gene: WIPI2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: WIPI2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WIPI2 were set to 30968111; 34557665
Phenotypes for gene: WIPI2 were set to WIPI2-related neurodevelopmental disorder with white matter loss and hypoplasia of vermis and corpus callosum; OMIM:618453.0; MONDO:0032759
DDG2P v6.16 WDR83OS Achchuthan Shanmugasundram gene: WDR83OS was added
gene: WDR83OS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: WDR83OS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR83OS were set to 39471804; 30250217
Phenotypes for gene: WDR83OS were set to MONDO:0975877; WDR83OS-related neurodevelopmental disorder with hypercholanemia
DDG2P v6.16 WDR44 Achchuthan Shanmugasundram gene: WDR44 was added
gene: WDR44 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: WDR44 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: WDR44 were set to 38191484
Phenotypes for gene: WDR44 were set to MONDO:0005308; WDR44-related ciliopathy
Mode of pathogenicity for gene: WDR44 was set to Other
DDG2P v6.16 WBP4 Achchuthan Shanmugasundram gene: WBP4 was added
gene: WBP4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: WBP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WBP4 were set to 37963460
Phenotypes for gene: WBP4 were set to MONDO:0971043; WBP4-related neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities
DDG2P v6.16 UNC79 Achchuthan Shanmugasundram gene: UNC79 was added
gene: UNC79 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: UNC79 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: UNC79 were set to 37183800
Phenotypes for gene: UNC79 were set to UNC79-related intellectual disability with focal motor seizures
DDG2P v6.16 UNC13A Achchuthan Shanmugasundram gene: UNC13A was added
gene: UNC13A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: UNC13A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: UNC13A were set to 41125872; 27648472; 28192369; 36447687
Phenotypes for gene: UNC13A were set to UNC13A-related congenital epileptic encephalopathy and severe neuromuscular disorder; MONDO:0100038; UNC13A-related neurodevelopmental disorder with ataxia and tremor or dyskinetic movements
DDG2P v6.16 UGGT1 Achchuthan Shanmugasundram gene: UGGT1 was added
gene: UGGT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: UGGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UGGT1 were set to 40267907
Phenotypes for gene: UGGT1 were set to UGGT1-related congenital disorder of glycosylation with neurodevelopmental impairment; MONDO:0015286
DDG2P v6.16 TRIM71 Achchuthan Shanmugasundram gene: TRIM71 was added
gene: TRIM71 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TRIM71 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRIM71 were set to 38833623
Phenotypes for gene: TRIM71 were set to TRIM71-related neurodevelopmental disorder with ventriculomegaly and hydrocephalus; MONDO:0032862; OMIM:618667.0
DDG2P v6.16 TRAPPC6B Achchuthan Shanmugasundram gene: TRAPPC6B was added
gene: TRAPPC6B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TRAPPC6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC6B were set to 31687267; 40350395; 37713627; 28626029
Phenotypes for gene: TRAPPC6B were set to TRAPPC6B-related neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy; MONDO:0060640; OMIM:617862.0
DDG2P v6.16 TM2D3 Achchuthan Shanmugasundram gene: TM2D3 was added
gene: TM2D3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TM2D3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TM2D3 were set to 40449487
Phenotypes for gene: TM2D3 were set to MONDO:0700092; TM2D3-related neurodevelopmental disorder with microcephaly and congenital malformations
DDG2P v6.16 C14orf80 Achchuthan Shanmugasundram gene: C14orf80 was added
gene: C14orf80 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: C14orf80 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C14orf80 were set to 30842647; 39979680
Phenotypes for gene: C14orf80 were set to TEDC1-related neurodevelopmental disorder with growth impairment, microcephaly, and endocrine abnormalities.
DDG2P v6.16 SREBF2 Achchuthan Shanmugasundram gene: SREBF2 was added
gene: SREBF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SREBF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SREBF2 were set to 26350204; 38847193
Phenotypes for gene: SREBF2 were set to SREBF2-related complex dermatological, neurological, and skeletal abnormalities
Mode of pathogenicity for gene: SREBF2 was set to Other
DDG2P v6.16 SP9 Achchuthan Shanmugasundram gene: SP9 was added
gene: SP9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SP9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SP9 were set to 38288683
Phenotypes for gene: SP9 were set to MONDO:0100038; SP9-related neurodevelopmental disorder with or without epileptic encephalopathy
DDG2P v6.16 SNUPN Achchuthan Shanmugasundram gene: SNUPN was added
gene: SNUPN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SNUPN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNUPN were set to 38366623; 38413582
Phenotypes for gene: SNUPN were set to SNUPN-related muscular dystrophy with or without multi-system involvement; MONDO:0971171
DDG2P v6.16 SEPHS1 Achchuthan Shanmugasundram gene: SEPHS1 was added
gene: SEPHS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SEPHS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SEPHS1 were set to 38531365
Phenotypes for gene: SEPHS1 were set to MONDO:0700092; SEPHS1-related neurodevelopmental disorder
Mode of pathogenicity for gene: SEPHS1 was set to Other
DDG2P v6.16 RYBP Achchuthan Shanmugasundram gene: RYBP was added
gene: RYBP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RYBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RYBP were set to 39891528
Phenotypes for gene: RYBP were set to RYBP-related neurodevelopmental disorder with congenital anomalies; MONDO:0100038
DDG2P v6.16 RREB1 Achchuthan Shanmugasundram gene: RREB1 was added
gene: RREB1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: RREB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RREB1 were set to 38332451; 40418122
Phenotypes for gene: RREB1 were set to RREB1-related RASopathy syndrome with congenital heart disease, genitourinary malformations, and developmental delay
DDG2P v6.16 RPS6KC1 Achchuthan Shanmugasundram gene: RPS6KC1 was added
gene: RPS6KC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RPS6KC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPS6KC1 were set to 41130203
Phenotypes for gene: RPS6KC1 were set to RPS6KC1-related complex neurodevelopmental disorder with spasticity and hypoplasia of corpus callosum; MONDO:0100038
DDG2P v6.16 RNU5B-1 Achchuthan Shanmugasundram gene: RNU5B-1 was added
gene: RNU5B-1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RNU5B-1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RNU5B-1 were set to 40442284; 40379786
Phenotypes for gene: RNU5B-1 were set to RNU5B-1-related neurodevelopmental disorder with abnormal brain imaging and congenital anomalies
DDG2P v6.16 RNU2-2P Achchuthan Shanmugasundram gene: RNU2-2P was added
gene: RNU2-2P was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RNU2-2P was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RNU2-2P were set to 40442284; 40210679
Phenotypes for gene: RNU2-2P were set to RNU2-2-related neurodevelopmental disorder with seizures and hyperventilation; MONDO:0100038
DDG2P v6.16 RICTOR Achchuthan Shanmugasundram gene: RICTOR was added
gene: RICTOR was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: RICTOR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RICTOR were set to 39738822
Phenotypes for gene: RICTOR were set to RICTOR-related neurodevelopmental disorder
Mode of pathogenicity for gene: RICTOR was set to Other
DDG2P v6.16 RFX7 Achchuthan Shanmugasundram gene: RFX7 was added
gene: RFX7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RFX7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RFX7 were set to 39007708; 25961944; 25363760; 33584783; 33658631; 36334883
Phenotypes for gene: RFX7 were set to RFX7-related neurodevelopmental disorder with autism and other behavioural abnormalities; MONDO:0957228; OMIM:620330.0
DDG2P v6.16 RFX4 Achchuthan Shanmugasundram gene: RFX4 was added
gene: RFX4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RFX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RFX4 were set to 33658631; 25961944
Phenotypes for gene: RFX4 were set to MONDO:0100038; RFX4-related neurodevelopmental disorder with autism and other behavioural abnormalities
DDG2P v6.16 RFX3 Achchuthan Shanmugasundram gene: RFX3 was added
gene: RFX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RFX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RFX3 were set to 27525107; 37717291; 33658631; 21792059; 35982159; 25844147; 31981491
Phenotypes for gene: RFX3 were set to RFX3-related neurodevelopmental disorder with autism and other behavioural abnormalities; MONDO:0100038
DDG2P v6.16 RCC1 Achchuthan Shanmugasundram gene: RCC1 was added
gene: RCC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RCC1 were set to 40683276
Phenotypes for gene: RCC1 were set to RCC1-related infection-induced acute-onset axonal neuropathy with cerebral and cerebellar atrophy
DDG2P v6.16 RBCK1 Achchuthan Shanmugasundram gene: RBCK1 was added
gene: RBCK1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBCK1 were set to 35017290; 38077957; 38329383; 38588043; 38922716; 32187699; 23798481
Phenotypes for gene: RBCK1 were set to RBCK1-related polyglucosan body cardiac and skeletal myopathy with or without immunodeficiency; MONDO:0014389; OMIM:615895.0
DDG2P v6.16 RAB5C Achchuthan Shanmugasundram gene: RAB5C was added
gene: RAB5C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RAB5C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAB5C were set to 37552066
Phenotypes for gene: RAB5C were set to RAB5C-related neurodevelopmental disorder
Mode of pathogenicity for gene: RAB5C was set to Other
DDG2P v6.16 PSMD11 Achchuthan Shanmugasundram gene: PSMD11 was added
gene: PSMD11 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: PSMD11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PSMD11 were set to 38866022
Phenotypes for gene: PSMD11 were set to PSMD11-related neurodevelopmental disorder with or without obesity
DDG2P v6.16 PPP2R5C Achchuthan Shanmugasundram gene: PPP2R5C was added
gene: PPP2R5C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PPP2R5C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPP2R5C were set to 39978342
Phenotypes for gene: PPP2R5C were set to PPP2R5C-related neurodevelopmental disorder with macrocephaly and hypotonia, with or without seizures; MONDO:0100038
Mode of pathogenicity for gene: PPP2R5C was set to Other
DDG2P v6.16 PKDCC Achchuthan Shanmugasundram gene: PKDCC was added
gene: PKDCC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PKDCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKDCC were set to 38860479; 37592254; 30478137; 36896672
Phenotypes for gene: PKDCC were set to MONDO:0032935; PKDCC-related rhizomelic limb shortening with dysmorphic features and short stature; OMIM:618821.0
DDG2P v6.16 PISD Achchuthan Shanmugasundram gene: PISD was added
gene: PISD was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: PISD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PISD were set to 38801004; 31263216; 30858161; 30488656
Phenotypes for gene: PISD were set to OMIM:618889.0; MONDO:0030045; PISD-related spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function
DDG2P v6.16 PHEX Achchuthan Shanmugasundram gene: PHEX was added
gene: PHEX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PHEX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: PHEX were set to 2894375; 18252791; 15029877; 39877728; 39710377; 16055933; 34633109; 32329911; 38722819; 35896147; 37059315
Phenotypes for gene: PHEX were set to MONDO:0010619; PHEX-related hypophosphatemic rickets; OMIM:307800.0
DDG2P v6.16 PARS2 Achchuthan Shanmugasundram gene: PARS2 was added
gene: PARS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PARS2 were set to 29410512; 32514400; 28077841; 39253392; 37956963; 38469956; 25629079; 29915213; 38087948
Phenotypes for gene: PARS2 were set to MONDO:0032752; PARS2-related developmental and epileptic encephalopathy with or without cardiomyopathy; OMIM:618437.0
DDG2P v6.16 PACSIN3 Achchuthan Shanmugasundram gene: PACSIN3 was added
gene: PACSIN3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PACSIN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PACSIN3 were set to 29202928; 38637313
Phenotypes for gene: PACSIN3 were set to PACSIN3-related childhood-onset myopathy with hyperCKaemia
DDG2P v6.16 NUDCD2 Achchuthan Shanmugasundram gene: NUDCD2 was added
gene: NUDCD2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: NUDCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUDCD2 were set to 37272762
Phenotypes for gene: NUDCD2 were set to NUDCD2-related brain and cardiac malformations with cholestasis and renal failure
DDG2P v6.16 MIR140 Achchuthan Shanmugasundram gene: MIR140 was added
gene: MIR140 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MIR140 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MIR140 were set to 30804514
Phenotypes for gene: MIR140 were set to MONDO:0032835; MIR140-related spondyloepiphyseal dysplasia, Nishimura type
Mode of pathogenicity for gene: MIR140 was set to Other
DDG2P v6.16 MARK4 Achchuthan Shanmugasundram gene: MARK4 was added
gene: MARK4 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: MARK4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MARK4 were set to 38041405
Phenotypes for gene: MARK4 were set to MONDO:0700092; MARK4-related neurodevelopmental disorder
Mode of pathogenicity for gene: MARK4 was set to Other
DDG2P v6.16 MAP3K20 Achchuthan Shanmugasundram gene: MAP3K20 was added
gene: MAP3K20 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MAP3K20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAP3K20 were set to 26755636; 32021595; 38451290; 27816943
Phenotypes for gene: MAP3K20 were set to MONDO:0054695; MAP3K20-related ectodermal dysplasia with craniosynostosis, sensorineural hearing loss, and limb anomalies; OMIM:617760.0; MAP3K20-related centronuclear myopathy; OMIM:616890.0; MAP3K20-related split-foot malformation with mesoaxial polydactyly; MONDO:0014816
DDG2P v6.16 GTF3C5 Achchuthan Shanmugasundram gene: GTF3C5 was added
gene: GTF3C5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GTF3C5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF3C5 were set to 38520561
Phenotypes for gene: GTF3C5 were set to GTF3C5-related neurodevelopmental disorder with growth restriction, skeletal anomalies, cerebellar hypoplasia and hearing loss; MONDO:0100038
DDG2P v6.16 GTF3C3 Achchuthan Shanmugasundram gene: GTF3C3 was added
gene: GTF3C3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GTF3C3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF3C3 were set to 39636576
Phenotypes for gene: GTF3C3 were set to GTF3C3-related neurodevelopmental disorder with hypoplasia of corpus callosum and/or cerebellar atrophy; MONDO:0100038
DDG2P v6.16 GABRA4 Achchuthan Shanmugasundram gene: GABRA4 was added
gene: GABRA4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GABRA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GABRA4 were set to 38565639
Phenotypes for gene: GABRA4 were set to GABRA4-related neurodevelopmental disorder with seizures; MONDO:0100038
Mode of pathogenicity for gene: GABRA4 was set to Other
DDG2P v6.16 FRYL Achchuthan Shanmugasundram gene: FRYL was added
gene: FRYL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FRYL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FRYL were set to 38479391
Phenotypes for gene: FRYL were set to MONDO:0975953; FRYL-related neurodevelopmental disorder with dysmorphic facial features, with or without congenital abnormalities
DDG2P v6.16 FAM177A1 Achchuthan Shanmugasundram gene: FAM177A1 was added
gene: FAM177A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FAM177A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM177A1 were set to 38767059; 25558065
Phenotypes for gene: FAM177A1 were set to FAM177A1-related neurodevelopmental disorder with macrocephaly; MONDO:0100038
DDG2P v6.16 EIF3B Achchuthan Shanmugasundram gene: EIF3B was added
gene: EIF3B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EIF3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EIF3B were set to 41033306
Phenotypes for gene: EIF3B were set to EIF3B-related neurodevelopmental disorder with cardiac anomalies and craniofacial dysmorphism
DDG2P v6.16 EIF3A Achchuthan Shanmugasundram gene: EIF3A was added
gene: EIF3A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EIF3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EIF3A were set to 41033306
Phenotypes for gene: EIF3A were set to EIF3A-related neurodevelopmental disorder with cardiac anomalies and craniofacial dysmorphism; MONDO:0100038
DDG2P v6.16 DRG1 Achchuthan Shanmugasundram gene: DRG1 was added
gene: DRG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DRG1 were set to 37179472
Phenotypes for gene: DRG1 were set to MONDO:0957990; OMIM:620641.0; DRG1-related neurodevelopmental disorder with microcephaly and dysmorphic facial features (Tan-Almurshedi syndrome)
DDG2P v6.16 DOCK3 Achchuthan Shanmugasundram gene: DOCK3 was added
gene: DOCK3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DOCK3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOCK3 were set to 29130632; 30976111; 28195318; 40151040
Phenotypes for gene: DOCK3 were set to DOCK3-related neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia; MONDO:0032661; OMIM:618292.0
DDG2P v6.16 CIAO1 Achchuthan Shanmugasundram gene: CIAO1 was added
gene: CIAO1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CIAO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIAO1 were set to 38950322; 38411040
Phenotypes for gene: CIAO1 were set to CIAO1-related neuromuscular disorder with intellectual disability; MONDO:0975806
DDG2P v6.16 CELSR3 Achchuthan Shanmugasundram gene: CELSR3 was added
gene: CELSR3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CELSR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CELSR3 were set to 38429302
Phenotypes for gene: CELSR3 were set to CELSR3-related neurodevelopmental disorder with or without urinary tract abnormalities; MONDO:0100038
DDG2P v6.16 CELF4 Achchuthan Shanmugasundram gene: CELF4 was added
gene: CELF4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CELF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CELF4 were set to 40108438
Phenotypes for gene: CELF4 were set to CELF4-related neurodevelopmental disorder with overgrowth
DDG2P v6.16 ADAMTS15 Achchuthan Shanmugasundram gene: ADAMTS15 was added
gene: ADAMTS15 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ADAMTS15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS15 were set to 35962790
Phenotypes for gene: ADAMTS15 were set to MONDO:0957819; ADAMTS15-related distal arthrogryposis; OMIM:620545.0
DDG2P v6.16 ABCA2 Achchuthan Shanmugasundram gene: ABCA2 was added
gene: ABCA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ABCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCA2 were set to 30237576; 29302074; 31231135; 38228874; 31047799
Phenotypes for gene: ABCA2 were set to OMIM:618808.0; MONDO:0032930; ABCA2-related intellectual developmental disorder with poor growth and with or without seizures or ataxia
DDG2P v6.16 TERT Achchuthan Shanmugasundram Mode of inheritance for gene TERT was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v6.16 SHOX Achchuthan Shanmugasundram Mode of inheritance for gene SHOX was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v6.16 SCN1B Achchuthan Shanmugasundram Mode of inheritance for gene SCN1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v6.16 RTEL1 Achchuthan Shanmugasundram Mode of inheritance for gene RTEL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v6.16 PIK3R1 Achchuthan Shanmugasundram Mode of inheritance for gene PIK3R1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.16 MYH10 Achchuthan Shanmugasundram Mode of pathogenicity for gene MYH10 was changed from to Other
DDG2P v6.16 HK1 Achchuthan Shanmugasundram Mode of pathogenicity for gene HK1 was changed from to Other
DDG2P v6.16 FGF13 Achchuthan Shanmugasundram Mode of inheritance for gene FGF13 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v6.16 COL9A3 Achchuthan Shanmugasundram Mode of inheritance for gene COL9A3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v6.16 ABCC9 Achchuthan Shanmugasundram Mode of inheritance for gene ABCC9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v6.14 LEF1 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #621224) and the OMIM record was last accessed on 18 December 2025.
DDG2P v6.14 LEF1 Achchuthan Shanmugasundram Phenotypes for gene: LEF1 were changed from LEF1-related ectodermal dysplasia and limb malformation to LEF1-related ectodermal dysplasia and limb malformation; Ectodermal dysplasia 17 with or without limb malformations, OMIM:621224; ectodermal dysplasia 17 with or without limb malformations, MONDO:0979228
DDG2P v6.13 PAN2 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #621384) and the OMIM record was last accessed on 18 December 2025.
DDG2P v6.13 PAN2 Achchuthan Shanmugasundram Phenotypes for gene: PAN2 were changed from PAN2-related neurodevelopmental disorder with multiple congenital anomalies to PAN2-related neurodevelopmental disorder with multiple congenital anomalies; Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies, OMIM:621384
DDG2P v6.12 AMOTL1 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #621192) and the OMIM record was last accessed on 18 December 2025.
DDG2P v6.11 GON4L Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #621212) and the OMIM record was last accessed on 18 December 2025.
DDG2P v6.10 TBC1D32 Achchuthan Shanmugasundram changed review comment from: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #258865) and the OMIM record was last accessed on 18 December 2025.; to: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #258865 & #621307) and the OMIM records were last accessed on 18 December 2025.
DDG2P v6.10 TBC1D32 Achchuthan Shanmugasundram Phenotypes for gene: TBC1D32 were changed from TBC1D32-related ciliopathy; Orofaciodigital syndrome IX, OMIM:258865; orofaciodigital syndrome IX, MONDO:0009795 to TBC1D32-related ciliopathy; Orofaciodigital syndrome IX, OMIM:258865; orofaciodigital syndrome IX, MONDO:0009795; Alsahan-Harris syndrome, OMIM:621307; Alsahan-Harris syndrome, MONDO:0979871
DDG2P v6.9 TBC1D32 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #258865) and the OMIM record was last accessed on 18 December 2025.
DDG2P v6.9 TBC1D32 Achchuthan Shanmugasundram Phenotypes for gene: TBC1D32 were changed from TBC1D32-related ciliopathy to TBC1D32-related ciliopathy; Orofaciodigital syndrome IX, OMIM:258865; orofaciodigital syndrome IX, MONDO:0009795
DDG2P v6.8 AP1B1 Ida Ertmanska Deleted their review
DDG2P v6.8 DISP1 Ida Ertmanska Deleted their review
DDG2P v6.8 DISP1 Ida Ertmanska Deleted their comment
DDG2P v6.8 AP1B1 Ida Ertmanska changed review comment from: PMID: 31630791 Alsaif et al., 2019
Family 1: UK and Pakistani origin, consanguineous. Individual II:1, female, presented with congenital ichthyosis, enteropathy, and mild persisting hepatopathy, followed by failure to thrive, global developmental delay, and bilateral severe to profound sensorineural hearing loss.
Similarly affected brother II:2: ichthyosis with erythroderma and diarrhea in the neonatal period. Subsequent problems included enteropathy, severe failure to thrive, global developmental delay, hearing loss, narrow and incomplete cleft of the soft palate, anemia, and respiratory infections. Both homozygous for a gross deletion, (GRCh37/hg19) chr22: 29758984–29815476, which spans AP1B1 and RFPL1 (not yet associated with a disease). Persistently low plasma copper in both siblings.

Family 2: individual II:2 - 4yo boy born to consanguineous healthy Saudi parents. Phenotype: scaly skin, which evolved into generalized ichthyosis with associated palmoplantar hyperkeratosis. He later developed developmental delay, bilateral profound sensorineural deafness, and failure to thrive. Homozygous for AP1B1 NM_001127:c.38-1G>A, p.(Glu14Argfs∗5) - clinical exome.

PMID: 33452671 Vornweg et al., 2021
Female patient with compound het mutations in AP1B1: c.322C>T (p. Arg108Trp) and c.2254delC (p.Leu752Serfs*26). Method: WES + Sanger. Presented with ichthyosiform erythroderma and chronic, severe pruritus from birth; global developmental delay and failure to thrive, thickened plantar surface, bilateral ectropion and partial alopecia; developed bilateral deafness and moderate photophobia. Molecular examination demonstrated complete loss of AP1B1 protein in epidermis and isolated keratinocytes from patient’s skin.

PMID: 33349978 Ito et al., 2021
Report of 2yo Japanese boy. Compound het for AP1B1 c.1852C>T p.Gln618* and 2677C>T p.Gln893*. Method: WES. Presented with ichthyosis, moderate motor & mental retardation, failed the auditory brainstem response test bilatreally. Low calcium and serum copper levels.

PMID: 32969855 Meriç et al., 2021
11mo Turkish girl; consanguineous parents. Homozygous for (AP1B1:NM_001127) c.668T>C, p.Leu223Pro - WES. Presented with ichthyosis and developmental delay. Other symptoms: hearing loss, hepatomegaly, chronic diarrhea, partial alopecia, hyperkeratosis; eye examination showed photophobia and high myopia; diagnosed with mild ID at 7yo. Serum copper within normal limits.

PMID: 35144013 Faghihi et al., 2022
Proband: 6.5yr old boy, consanguineous parents. Homozygous for AP1B1 (NM_001127.4: c.1263C>A, p.Tyr421*) - WES. Presented with developmental delay, keratitis, ichthyosis, and hearing loss. Plasma copper (9 mmol/L) was decreased on several occasions.

AP1B1 is associated with Keratitis-ichthyosis-deafness syndrome, autosomal recessive, 242150 in OMIM (accessed 17th Oct 2025).; to: PMID: 31630791 Alsaif et al., 2019
Family 1: UK and Pakistani origin, consanguineous. Individual II:1, female, presented with congenital ichthyosis, enteropathy, and mild persisting hepatopathy, followed by failure to thrive, global developmental delay, and bilateral severe to profound sensorineural hearing loss.
Similarly affected brother II:2: ichthyosis with erythroderma and diarrhea in the neonatal period. Subsequent problems included enteropathy, severe failure to thrive, global developmental delay, hearing loss, narrow and incomplete cleft of the soft palate, anemia, and respiratory infections. Both homozygous for a gross deletion, (GRCh37/hg19) chr22: 29758984–29815476, which spans AP1B1 and RFPL1 (not yet associated with a disease). Persistently low plasma copper in both siblings.

Family 2: individual II:2 - 4yo boy born to consanguineous healthy Saudi parents. Phenotype: scaly skin, which evolved into generalized ichthyosis with associated palmoplantar hyperkeratosis. He later developed developmental delay, bilateral profound sensorineural deafness, and failure to thrive. Homozygous for AP1B1 NM_001127:c.38-1G>A, p.(Glu14Argfs∗5) - clinical exome.

PMID: 33452671 Vornweg et al., 2021
Female patient with compound het mutations in AP1B1: c.322C>T (p. Arg108Trp) and c.2254delC (p.Leu752Serfs*26). Method: WES + Sanger. Presented with ichthyosiform erythroderma and chronic, severe pruritus from birth; global developmental delay and failure to thrive, thickened plantar surface, bilateral ectropion and partial alopecia; developed bilateral deafness and moderate photophobia. Molecular examination demonstrated complete loss of AP1B1 protein in epidermis and isolated keratinocytes from patient’s skin.

PMID: 33349978 Ito et al., 2021
Report of 2yo Japanese boy. Compound het for AP1B1 c.1852C>T p.Gln618* and 2677C>T p.Gln893*. Method: WES. Presented with ichthyosis, moderate motor & mental retardation, failed the auditory brainstem response test bilatreally. Low calcium and serum copper levels.

PMID: 32969855 Meriç et al., 2021
11mo Turkish girl; consanguineous parents. Homozygous for (AP1B1:NM_001127) c.668T>C, p.Leu223Pro - WES. Presented with ichthyosis and developmental delay. Other symptoms: hearing loss, hepatomegaly, chronic diarrhea, partial alopecia, hyperkeratosis; eye examination showed photophobia and high myopia; diagnosed with mild ID at 7yo. Serum copper within normal limits.

PMID: 35144013 Faghihi et al., 2022
Proband: 6.5yr old boy, consanguineous parents. Homozygous for AP1B1 (NM_001127.4: c.1263C>A, p.Tyr421*) - WES. Presented with developmental delay, keratitis, ichthyosis, and hearing loss. Plasma copper (9 mmol/L) was decreased on several occasions.

AP1B1 is associated with Keratitis-ichthyosis-deafness syndrome, autosomal recessive, 242150 in OMIM (accessed 17th Oct 2025).
This gene was classified as Definitive for AR ichthyosiform erythroderma, corneal involvement, and hearing loss by ClinGen (General Inborn Errors of Metabolism Expert Panel, Aug 2024).
DDG2P v6.8 DISP1 Ida Ertmanska edited their review of gene: DISP1: Changed publications to: 38529886; Changed phenotypes to: Holoprosencephaly 10, OMIM:621143, holoprosencephaly 10, MONDO:0976262
DDG2P v6.8 AP1B1 Ida Ertmanska reviewed gene: AP1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31630791, 33452671, 33349978, 32969855, 35144013; Phenotypes: Keratitis-ichthyosis-deafness syndrome, autosomal recessive, OMIM:242150, KID syndrome, MONDO:0018781; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.8 PDE6H Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Ronnie Wright, this gene does not fit into the scope of developmental disorders, particularly in the context of R27 Paediatric disorders clinical indication. However, the DDG2P panel is not curated at Genomics England and is updated only to reflect the latest knowledge from the Gene2Phenotype resource (https://www.ebi.ac.uk/gene2phenotype/). Hence, the rating with stay green, pending updates from G2P.; to: Comment on list classification: As reviewed by Ronnie Wright, this gene does not fit into the scope of developmental disorders, particularly in the context of R27 Paediatric disorders clinical indication. However, the DDG2P panel is not curated at Genomics England and is updated only to reflect the latest knowledge from the Gene2Phenotype resource (https://www.ebi.ac.uk/gene2phenotype/). Hence, the rating should stay green, pending updates from G2P.
DDG2P v6.8 LBX1 Achchuthan Shanmugasundram commented on gene: LBX1: The DDG2P panel is not curated at Genomics England and is updated only to reflect the latest knowledge from the Gene2Phenotype resource (https://www.ebi.ac.uk/gene2phenotype/). This gene has been added with amber rating on R333 Central congenital hypoventilation panel (https://panelapp.genomicsengland.co.uk/panels/1314/gene/LBX1/) as this phenotype clearly fits into the scope of R333 clinical indication.

The 'curated_removed' tag has been added so that this gene won't be relevant on this panel until it is added to the DD panel on G2P resource.
DDG2P v6.8 LBX1 Achchuthan Shanmugasundram Deleted their comment
DDG2P v6.6 PDE6H Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Ronnie Wright, this gene does not fit into the scope of developmental disorders, particularly in the context of R27 Paediatric disorders clinical indication. However, the DDG2P panel is not curated at Genomics England and is updated only to reflect the latest knowledge from the Gene2Phenotype resource (https://www.ebi.ac.uk/gene2phenotype/). Hence, the rating with stay green, pending updates from G2P.
DDG2P v6.5 PDE6H Achchuthan Shanmugasundram edited their review of gene: PDE6H: Changed rating: AMBER
DDG2P v6.5 NRXN2 Achchuthan Shanmugasundram edited their review of gene: NRXN2: Added comment: This gene has now been downgraded to 'limited' rating on the DD panel in Gene2Phenotype resource. So, it will be demoted to red on this panel in the next GMS update.; Changed rating: RED; Changed phenotypes to: AUTISM, OMIM:209850, NRXN2-related autism
DDG2P v6.5 GSPT2 Achchuthan Shanmugasundram edited their review of gene: GSPT2: Added comment: This gene has now been downgraded to 'limited' rating on the DD panel in Gene2Phenotype resource. So, it will be demoted to red on this panel in the next GMS update.; Changed rating: RED; Changed phenotypes to: GSPT2-related intellectual disability
DDG2P v6.5 GIGYF1 Achchuthan Shanmugasundram edited their review of gene: GIGYF1: Added comment: This gene has now been downgraded to 'limited' rating on the DD panel in Gene2Phenotype resource. So, it will be demoted to red on this panel in the next GMS update.; Changed rating: RED; Changed phenotypes to: GIGYF1-related developmental disorder
DDG2P v6.5 TSPAN7 Ida Ertmanska reviewed gene: TSPAN7: Rating: ; Mode of pathogenicity: None; Publications: 10655063, 12376945, 14735593, 12070254, 22511893, 26290131; Phenotypes: Intellectual developmental disorder, X-linked 58, OMIM:300210, intellectual disability, MONDO:0001071; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v6.5 TSPAN7 Ida Ertmanska Deleted their review
DDG2P v6.5 TSPAN7 Ida Ertmanska changed review comment from: Comment on list classification: There are at least 7 unrelated individuals reported with mild to moderate intellectual disability with either LoF variants in TSPAN7, TSPAN7 duplication, or balanced translocations with a breakpoint within the TSPAN7 sequence. However, phenotype in most of the affected individuals does not meet the eligibility criteria of moderate/severe/profound global developmental delay/intellectual disability. There is also conflicting evidence for pathogenicity of the reported variants, including high population allele frequencies, predicted NMD escape, and sequencing method limitations. Based on the available evidence, the gene should be rated Amber for Intellectual disability.; to: Comment on list classification: There are at least 7 unrelated individuals reported with mild to moderate intellectual disability with either LoF variants in TSPAN7, TSPAN7 duplication, or balanced translocations with a breakpoint within the TSPAN7 sequence. However, phenotype in most of the affected individuals does not meet the eligibility criteria of moderate/severe/profound global developmental delay/intellectual disability. There is also conflicting evidence for pathogenicity of the reported variants, including high population allele frequencies, predicted NMD escape, and sequencing method limitations. Based on the available evidence, we decided to demote this gene to Amber for Intellectual disability.
DDG2P v6.5 TSPAN7 Ida Ertmanska reviewed gene: TSPAN7: Rating: AMBER; Mode of pathogenicity: None; Publications: 10655063, 12376945, 14735593, 12070254, 22511893, 26290131; Phenotypes: Intellectual developmental disorder, X-linked 58, OMIM:300210, intellectual disability, MONDO:0001071; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v6.5 PDE6H Ronnie Wright reviewed gene: PDE6H: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.5 LBX1 Ian Berry gene: LBX1 was added
gene: LBX1 was added to DDG2P. Sources: Expert Review
Mode of inheritance for gene: LBX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LBX1 were set to PMID: 30487221
Penetrance for gene: LBX1 were set to Complete
Review for gene: LBX1 was set to GREEN
gene: LBX1 was marked as current diagnostic
Added comment: Single sib-pair in PMID: 30487221 with congenital central hypoventilation syndrome, 1bp resulting in a frameshift in the terminal exon. Mouse model of the same variant expressed a protein with an altered C-terminal and replicated the human phenotype.

Subsequent unpublished studies (in process of publication): 2 further cases in CVA/GEL dataset with comparable phenotypes, 2 further probands (with segregation) in other families via multinational collaboration.

All cases appear to have the same variant NM_006562.5: c.707del p.(Val236Alafs*59) which may be a Roma founder.
Sources: Expert Review
DDG2P v6.5 TNFRSF13B Arina Puzriakova Added comment: Comment on list classification: The content of this panel reflects genes and classifications assigned by Gene2Phenotype on their DDG2P panel. 'TNFRSF13B-related immunodeficiency, common variable' is currently classified as 'strong' (https://www.ebi.ac.uk/gene2phenotype/gene/TNFRSF13B) which maps to the PanelApp rating of Green - therefore this rating will be maintained on this panel.
DDG2P v6.4 PDE1B Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to support this gene disease association, however, the content of this panel reflects genes and classifications assigned by Gene2Phenotype (G2P) on their DDG2P panel. PDE1B is currently not associated with any disease models in G2P and therefore the grey rating will be maintained on this panel at this time.

PDE1B has already been curated on other GMS panels with a green recommendation (Childhood onset dystonia, chorea or related movement disorder and Ataxia and cerebellar anomalies) to capture the evidence and ensure inclusion of this gene in the NHS GMS.
DDG2P v6.4 PDE1B Arina Puzriakova Gene: pde1b has been removed from the panel.
DDG2P v6.2 ELFN1 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to support this gene disease association, however, the content of this panel reflects genes and classifications assigned by Gene2Phenotype on their DDG2P panel. 'ELFN1-related intellectual disability and epilepsy' is currently classified as 'limited' (https://www.ebi.ac.uk/gene2phenotype/gene/ELFN1) which maps to the PanelApp rating of Red - therefore this rating will be maintained on this panel. This gene has been added to other GMS panels with a green recommendation (ID and epilepsy) to capture the evidence and ensure inclusion of ELFN1 in the NHS GMS.
DDG2P v6.1 ELFN1 Rhys Dore reviewed gene: ELFN1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 40576023, 34509675, 34452636; Phenotypes: intellectual disability, developmental delay, epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v6.1 PDE1B Sarah Dixon gene: PDE1B was added
gene: PDE1B was added to DDG2P. Sources: Literature
Mode of inheritance for gene: PDE1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE1B were set to PMID: 40492975
Phenotypes for gene: PDE1B were set to hypotonia; ataxia; dystonia; developmental delay; intellectual disability
Penetrance for gene: PDE1B were set to unknown
Review for gene: PDE1B was set to GREEN
Added comment: PMID: 40492975
Biallelic LOF variants in PDE1B identified in seven individuals from five different families
Disorder characterized by hypotonia in infancy, progressing to ataxia and dystonia in early childhood, with developmental delay and intellectual disability
Sources: Literature
DDG2P v5.48 GAS8 Achchuthan Shanmugasundram commented on gene: GAS8: The 'new-gene-name' tag has been added as the official HGNC gene symbol for GAS8 is DRC4.
DDG2P v5.48 CCDC65 Achchuthan Shanmugasundram commented on gene: CCDC65: The 'new-gene-name' tag has been added as the approved HGNC gene symbol for CCDC65 is DRC2.
DDG2P v5.48 PPFIA3 Achchuthan Shanmugasundram edited their review of gene: PPFIA3: Changed phenotypes to: PPFIA3-related neurodevelopmental disorder, Paul-Chao neurodevelopmental syndrome, OMIM:621122
DDG2P v5.48 TNFRSF13B Ronnie Wright reviewed gene: TNFRSF13B: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: Other
DDG2P v5.48 ZSCAN10 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has now been associated with relevant phenotypes in OMIM (MIM #620910).
DDG2P v5.48 ZSCAN10 Achchuthan Shanmugasundram Phenotypes for gene: ZSCAN10 were changed from ZSCAN10-related neurodevelopmental disorder with oto-facial malformations to ZSCAN10-related neurodevelopmental disorder with oto-facial malformations
DDG2P v5.47 RNU4-2 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has now been associated with relevant phenotypes in OMIM (MIM #620851).
DDG2P v5.47 RNU4-2 Achchuthan Shanmugasundram Phenotypes for gene: RNU4-2 were changed from RNU4-2 related neurodevelopmental disorder with microcephaly and seizures to RNU4-2 related neurodevelopmental disorder with microcephaly and seizures
DDG2P v5.46 DHX9 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has now been associated with relevant phenotypes in OMIM (MIM #620988).
DDG2P v5.46 DHX9 Achchuthan Shanmugasundram Phenotypes for gene: DHX9 were changed from DHX9-related neurodevelopmental disorder and Charcot-Marie-Tooth disease to DHX9-related neurodevelopmental disorder and Charcot-Marie-Tooth disease
DDG2P v5.45 HYAL2 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has now been associated with relevant phenotypes in OMIM (MIM #621063).
DDG2P v5.45 HYAL2 Achchuthan Shanmugasundram Phenotypes for gene: HYAL2 were changed from HYAL2-related syndrome with cleft lip and palate and congenital cardiac anomalies to HYAL2-related syndrome with cleft lip and palate and congenital cardiac anomalies
DDG2P v5.44 CRYAB Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease CRYAB-related alpha-related B crystallinopathy is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 14681890;21130652;21337604;570292;28493373;9731540;23590293;19597569;30681346;16877416;16505043;38212463;32420686;11577372;21920752). The DDG2P confidence category for the disease CRYAB-related myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 21337604).; to: The DDG2P confidence category for the disease CRYAB-related alpha-related B crystallinopathy is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typified by age related penetrance (PMID: 14681890;21130652;21337604;570292;28493373;9731540;23590293;19597569;30681346;16877416;16505043;38212463;32420686;11577372;21920752). The DDG2P confidence category for the disease CRYAB-related myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 21337604).
DDG2P v5.44 LAMP2 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease LAMP2-related Danon disease is definitive. The allelic requirement and mutation consequence are monoallelic_X_het and absent gene product;altered gene product structure;decreased gene product level (PMID: 19057086;3087571;8504498;15253947;30681346;19588270;20173215;10972294;15673802;12112061;15907287;30857840;16217705).; to: The DDG2P confidence category for the disease LAMP2-related Danon disease is definitive. The allelic requirement and mutation consequence are monoallelic_X_het and absent gene product;altered gene product structure;decreased gene product level. This gene is typified by age related penetrance (PMID: 19057086;3087571;8504498;15253947;30681346;19588270;20173215;10972294;15673802;12112061;15907287;30857840;16217705).
DDG2P v5.44 FXN Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease FXN-related Friedreich ataxia is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure;decreased gene product level (PMID: 28405347;25566998;30681346;24705334;10633128;22409940;26704351;22691228).; to: The DDG2P confidence category for the disease FXN-related Friedreich ataxia is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure;decreased gene product level. This gene is typified by age related penetrance (PMID: 28405347;25566998;30681346;24705334;10633128;22409940;26704351;22691228).
DDG2P v5.44 AFF3 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease AFF3-related intellectual disability is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and decreased gene product level (PMID: 38811945). The DDG2P confidence category for the disease AFF3-related KINSSHIP syndrome, OMIM:619297 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 33961779;36576140;38811945).; to: The DDG2P confidence category for the disease AFF3-related intellectual disability is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and decreased gene product level. It shows incomplete penetrance (PMID: 38811945). The DDG2P confidence category for the disease AFF3-related KINSSHIP syndrome, OMIM:619297 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 33961779;36576140;38811945).
DDG2P v5.44 NPRL3 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease NPRL3-related familial focal epilepsy with or without focal cortical dysplasia is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;decreased gene product level (PMID: 27173016;34965576;26786403;35136953;34868250;26285051;26505888).; to: The DDG2P confidence category for the disease NPRL3-related familial focal epilepsy with or without focal cortical dysplasia is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;decreased gene product level. This gene shows incomplete penetrance (PMID: 27173016;34965576;26786403;35136953;34868250;26285051;26505888).
DDG2P v5.44 NPRL2 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease NPRL2-related familial focal epilepsy with or without focal cortical dysplasia is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;decreased gene product level (PMID: 37259768;28199897;34965576;34376795;26505888;30093711;31835056;27173016).; to: The DDG2P confidence category for the disease NPRL2-related familial focal epilepsy with or without focal cortical dysplasia is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;decreased gene product level. This gene shows incomplete penetrance (PMID: 37259768;28199897;34965576;34376795;26505888;30093711;31835056;27173016).
DDG2P v5.44 KCNK4 Achchuthan Shanmugasundram Phenotypes for gene: KCNK4 were changed from FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth); Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth to KCNK4-related facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndrome, OMIM:618381
DDG2P v5.43 KCNK4 Achchuthan Shanmugasundram edited their review of gene: KCNK4: Changed phenotypes to: KCNK4-related facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndrome, OMIM:618381
DDG2P v5.43 CCT8 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease CCT8-related neurodevelopmental disorder with brain abnormalities is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure;decreased gene product level (PMID: ).; to: The DDG2P confidence category for the disease CCT8-related neurodevelopmental disorder with brain abnormalities is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure;decreased gene product level.
DDG2P v5.42 XYLT1 Achchuthan Shanmugasundram edited their review of gene: XYLT1: Changed phenotypes to: XYLT1-related Desbuquois dysplasia, OMIM:615777
DDG2P v5.40 WRAP53 Achchuthan Shanmugasundram edited their review of gene: WRAP53: Changed phenotypes to: WRAP53-related dyskeratosis congenita, OMIM:613988
DDG2P v5.40 USP14 Achchuthan Shanmugasundram Phenotypes for gene: USP14 were changed from DISTAL ARTHROGRYPOSIS to USP14-related syndromic neurodevelopmental disorder with arthrogryposis
DDG2P v5.38 USP14 Achchuthan Shanmugasundram edited their review of gene: USP14: Changed phenotypes to: USP14-related syndromic neurodevelopmental disorder with arthrogryposis
DDG2P v5.36 SMARCA2 Achchuthan Shanmugasundram edited their review of gene: SMARCA2: Changed phenotypes to: SMARCA2-related Nicolaides-Baraitser syndrome, OMIM:601358
DDG2P v5.36 PIK3CA Achchuthan Shanmugasundram Phenotypes for gene: PIK3CA were changed from HEMIMEGALENCEPHALY PIK3CA; CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501 to PIK3CA-related overgrowth spectrum disorder with or without megalencephaly, capillary malformation, polymicrogyria and lipomatous overgrowth
DDG2P v5.35 PIK3CA Achchuthan Shanmugasundram edited their review of gene: PIK3CA: Changed phenotypes to: PIK3CA-related overgrowth spectrum disorder with or without megalencephaly, capillary malformation, polymicrogyria and lipomatous overgrowth
DDG2P v5.33 PIGN Achchuthan Shanmugasundram edited their review of gene: PIGN: Changed phenotypes to: PIGN-related multiple congenital anomalies-hypotonia-seizures syndrome, OMIM:614080
DDG2P v5.31 PCGF2 Achchuthan Shanmugasundram edited their review of gene: PCGF2: Changed phenotypes to: PCGF2-related craniofacial neurological cardiovascular and skeletal features (Turnpenny-Fry syndrome), OMIM:618371
DDG2P v5.30 OPHN1 Achchuthan Shanmugasundram edited their review of gene: OPHN1: Changed phenotypes to: OPHN1-related intellectual developmental disorder, OMIM:300486
DDG2P v5.30 NUP107 Achchuthan Shanmugasundram Phenotypes for gene: NUP107 were changed from GALLOWAY-MOWAT SYNDROME 7, OMIM:618348 to NUP107-related steroid resistant nephrotic syndrome with microcephaly, developmental delay and simplified gyration (Galloway-Mowat syndrome), OMIM:618348
DDG2P v5.28 NUP107 Achchuthan Shanmugasundram edited their review of gene: NUP107: Changed phenotypes to: NUP107-related steroid resistant nephrotic syndrome with microcephaly, developmental delay and simplified gyration (Galloway-Mowat syndrome), OMIM:618348
DDG2P v5.27 NOP10 Achchuthan Shanmugasundram edited their review of gene: NOP10: Changed phenotypes to: NOP10-related dyskeratosis congenita, OMIM:224230
DDG2P v5.26 NHP2 Achchuthan Shanmugasundram edited their review of gene: NHP2: Changed phenotypes to: NHP2-related dyskeratosis congenita, OMIM:613987
DDG2P v5.25 NECTIN1 Achchuthan Shanmugasundram edited their review of gene: NECTIN1: Changed phenotypes to: NECTIN1-related cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060
DDG2P v5.25 MYH9 Achchuthan Shanmugasundram Phenotypes for gene: MYH9 were changed from DEAFNESS AUTOSOMAL DOMINANT TYPE 17 603622; SEBASTIAN SYNDROME 155100; MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS 155100; EPSTEIN SYNDROME 155100; MAY-HEGGLIN ANOMALY 155100; FECHTNER SYNDROME 155100 to MYH9-related macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, OMIM:155100
DDG2P v5.24 MYH9 Achchuthan Shanmugasundram edited their review of gene: MYH9: Changed phenotypes to: MYH9-related macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, OMIM:155100
DDG2P v5.24 MAF Achchuthan Shanmugasundram Phenotypes for gene: MAF were changed from Ayme-Gripp syndrome: CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES; CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED 610202; CATARACT CONGENITAL CERULEAN TYPE 4 610202 to MAF-related cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation, OMIM:601088; MAF-related cataract, OMIM:610202
DDG2P v5.22 MAF Achchuthan Shanmugasundram edited their review of gene: MAF: Changed phenotypes to: MAF-related cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation, OMIM:601088, MAF-related cataract, OMIM:610202
DDG2P v5.19 LAMP2 Achchuthan Shanmugasundram edited their review of gene: LAMP2: Changed phenotypes to: LAMP2-related Danon disease
DDG2P v5.19 H3F3A Achchuthan Shanmugasundram Phenotypes for gene: H3F3A were changed from Craniofacial with neurodevelopment disorders to H3-3A-related Bryant-Li-Bhoj neurodevelopmental syndrome, OMIM:619720
DDG2P v5.18 H3F3A Achchuthan Shanmugasundram edited their review of gene: H3F3A: Changed phenotypes to: H3-3A-related Bryant-Li-Bhoj neurodevelopmental syndrome, OMIM:619720
DDG2P v5.18 GNAI1 Achchuthan Shanmugasundram edited their review of gene: GNAI1: Changed phenotypes to: GNAI1-related neurodevelopmental disorder with hypotonia, impaired speech, and behavioural abnormalities, OMIM:619854
DDG2P v5.18 GFER Achchuthan Shanmugasundram Phenotypes for gene: GFER were changed from MITOCHONDRIAL PROGRESSIVE MYOPATHY WITH CONGENITAL CATARACT HEARING LOSS AND DEVELOPMENTAL DELAY (MPMCHD 613076 to GFER-related mitochondrial progressive myopathy with congenital cataract, hearing loss and developmental delay, OMIM:613076
DDG2P v5.16 GFER Achchuthan Shanmugasundram edited their review of gene: GFER: Changed phenotypes to: GFER-related mitochondrial progressive myopathy with congenital cataract, hearing loss and developmental delay, OMIM:613076
DDG2P v5.16 DLL1 Achchuthan Shanmugasundram Phenotypes for gene: DLL1 were changed from INTELLECTUAL DISABILITY 616579 to DLL1-related neurodevelopmental disorder with nonspecific brain abnormalities, with or without seizures, OMIM:618709
DDG2P v5.14 DLL1 Achchuthan Shanmugasundram edited their review of gene: DLL1: Changed phenotypes to: DLL1-related neurodevelopmental disorder with nonspecific brain abnormalities, with or without seizures, OMIM:618709
DDG2P v5.12 CRYGD Achchuthan Shanmugasundram edited their review of gene: CRYGD: Changed phenotypes to: CRYGD-related cataract, OMIM:115700
DDG2P v5.10 CRYBB2 Achchuthan Shanmugasundram edited their review of gene: CRYBB2: Changed phenotypes to: CRYBB2-related cataract, OMIM:601547
DDG2P v5.9 CRYAB Achchuthan Shanmugasundram Phenotypes for gene: CRYAB were changed from MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED 613869; CATARACT POSTERIOR POLAR TYPE 2 613763 to CRYAB-related alpha-related B crystallinopathy; CRYAB-related myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869
DDG2P v5.8 CRYAB Achchuthan Shanmugasundram edited their review of gene: CRYAB: Changed phenotypes to: CRYAB-related alpha-related B crystallinopathy, CRYAB-related myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869
DDG2P v5.8 CRELD1 Achchuthan Shanmugasundram Phenotypes for gene: CRELD1 were changed from HETEROTAXY SYNDROME 207574 to CRELD1-related neurodevelopmental disorder with hypotonia and seizures, OMIM:620771; CRELD1-related atrioventricular septal defect susceptibility, OMIM:606217
DDG2P v5.6 CRELD1 Achchuthan Shanmugasundram edited their review of gene: CRELD1: Changed phenotypes to: CRELD1-related neurodevelopmental disorder with hypotonia and seizures, OMIM:620771, CRELD1-related atrioventricular septal defect susceptibility, OMIM:606217
DDG2P v5.5 ATOH7 Achchuthan Shanmugasundram edited their review of gene: ATOH7: Changed phenotypes to: ATOH7-related persistent hyperplastic primary vitreous, OMIM:221900
DDG2P v5.5 AFF3 Achchuthan Shanmugasundram Phenotypes for gene: AFF3 were changed from Skeletal dysplasia with severe neurological disease to AFF3-related KINSSHIP syndrome, OMIM:619297; AFF3-related intellectual disability
DDG2P v5.3 AFF3 Achchuthan Shanmugasundram edited their review of gene: AFF3: Changed phenotypes to: AFF3-related KINSSHIP syndrome, OMIM:619297, AFF3-related intellectual disability
DDG2P v5.3 CYHR1 Achchuthan Shanmugasundram reviewed gene: CYHR1: Rating: RED; Mode of pathogenicity: Other; Publications: 38641995; Phenotypes: ZFTRAF1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v5.3 SGSM3 Achchuthan Shanmugasundram reviewed gene: SGSM3: Rating: RED; Mode of pathogenicity: ; Publications: 37833060; Phenotypes: SGSM3-related intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v5.3 PLA2G16 Achchuthan Shanmugasundram reviewed gene: PLA2G16: Rating: RED; Mode of pathogenicity: ; Publications: 37919452; Phenotypes: PLAAT3-related lipodystrophy syndrome with neurological features, OMIM:620683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v5.3 KCNK4 Achchuthan Shanmugasundram edited their review of gene: KCNK4: Added comment: The DDG2P confidence category for the disease KCNK4-related facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndrome, OMIM:618381 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 30290154).; Changed rating: RED; Changed phenotypes to: FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth), Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth, KCNK4-related facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndrome, OMIM:618381
DDG2P v5.3 DLG2 Achchuthan Shanmugasundram reviewed gene: DLG2: Rating: RED; Mode of pathogenicity: Other; Publications: 37860969; Phenotypes: DLG2-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v5.3 COX18 Achchuthan Shanmugasundram reviewed gene: COX18: Rating: RED; Mode of pathogenicity: Other; Publications: 37468577, 39006432, 38960055; Phenotypes: COX18-related peripheral neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v5.3 CELSR1 Achchuthan Shanmugasundram reviewed gene: CELSR1: Rating: RED; Mode of pathogenicity: Other; Publications: 38272662; Phenotypes: CELSR1-related fetal hydrops; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v5.3 CCT8 Achchuthan Shanmugasundram reviewed gene: CCT8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CCT8-related neurodevelopmental disorder with brain abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v5.3 CCT7 Achchuthan Shanmugasundram reviewed gene: CCT7: Rating: RED; Mode of pathogenicity: ; Publications: 39480921; Phenotypes: CCT7-related neurodevelopmental disorder with brain abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v5.3 CCT5 Achchuthan Shanmugasundram reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: ; Publications: 39480921; Phenotypes: CCT5-related neurodevelopmental disorder with brain abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v5.3 CCT4 Achchuthan Shanmugasundram reviewed gene: CCT4: Rating: RED; Mode of pathogenicity: ; Publications: 39480921; Phenotypes: CCT4-related neurodevelopmental disorder with brain abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v5.3 ANO3 Achchuthan Shanmugasundram reviewed gene: ANO3: Rating: RED; Mode of pathogenicity: Other; Publications: 38079528, 33502045; Phenotypes: ANO3-related dystonia, OMIM:615034; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v5.3 ZSCAN10 Achchuthan Shanmugasundram reviewed gene: ZSCAN10: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38386308; Phenotypes: ZSCAN10-related neurodevelopmental disorder with oto-facial malformations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v5.3 ZNF699 Achchuthan Shanmugasundram reviewed gene: ZNF699: Rating: GREEN; Mode of pathogenicity: ; Publications: 39424669, 36801247, 33875846, 34374989, 35205213; Phenotypes: ZNF699-related developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities (DEGCAGS syndrome), OMIM:619488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v5.3 ZMYND8 Achchuthan Shanmugasundram commented on gene: ZMYND8: The DDG2P confidence category for the disease ZMYND8-related neurodevelopmental disorder is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure (PMID: 35916866).
DDG2P v5.3 ZFX Achchuthan Shanmugasundram reviewed gene: ZFX: Rating: GREEN; Mode of pathogenicity: ; Publications: 38325380; Phenotypes: ZFX-related neurodevelopmental disorder with hypotonia, congenital anomalies and facial dysmorphism with or without hyperparathyroidism; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v5.3 XYLT1 Achchuthan Shanmugasundram edited their review of gene: XYLT1: Added comment: The DDG2P confidence category for the disease XYLT1-related Desbuquois dysplasia, OMIM:615777 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;cis-regulatory or promotor mutation (PMID: 35081921;24581741;23982343;30554721).; Changed publications to: 35081921, 23982343, 24581741, 30554721; Changed phenotypes to: DESBUQUOIS DYSPLASIA 2, OMIM:615777, XYLT1-related Desbuquois dysplasia, OMIM:615777, Baratela Scott Syndrome, OMIM:615777
DDG2P v5.3 WRAP53 Achchuthan Shanmugasundram edited their review of gene: WRAP53: Added comment: The DDG2P confidence category for the disease WRAP53-related dyskeratosis congenita, OMIM:613988 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 29514627;34599657;32303682;21205863).; Changed publications to: 34599657, 29514627, 21205863, 32303682; Changed phenotypes to: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3, OMIM:613988, WRAP53-related dyskeratosis congenita, OMIM:613988
DDG2P v5.3 USP14 Achchuthan Shanmugasundram edited their review of gene: USP14: Added comment: The DDG2P confidence category for the disease USP14-related syndromic neurodevelopmental disorder with arthrogryposis is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure;decreased gene product level (PMID: 38469793;35066879).; Changed rating: GREEN; Changed publications to: 38469793, 35066879; Changed phenotypes to: DISTAL ARTHROGRYPOSIS, USP14-related syndromic neurodevelopmental disorder with arthrogryposis
DDG2P v5.3 UBA2 Achchuthan Shanmugasundram reviewed gene: UBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32758660, 28110515, 34159400, 31587267, 39149811, 31332306, 37221169, 34040189; Phenotypes: UBA2-related congenital anomalies with or without aplasia cutis congenita and ectrodactyly and variable developmental delay, OMIM:619959; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v5.3 TCP1 Achchuthan Shanmugasundram reviewed gene: TCP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39480921; Phenotypes: TCP1-related neurodevelopmental disorder with polymicrogyria; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v5.3 SNF8 Achchuthan Shanmugasundram reviewed gene: SNF8: Rating: GREEN; Mode of pathogenicity: ; Publications: 38423010; Phenotypes: SNF8-related disease spectrum (severe developmental and epileptic encephalopathy to syndromic optic atrophy); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v5.3 SMARCA2 Achchuthan Shanmugasundram edited their review of gene: SMARCA2: Added comment: The DDG2P confidence category for the disease SMARCA2-related Nicolaides-Baraitser syndrome , OMIM:601358 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure (PMID: 31813144;34521483;34296532;31288860;25169058;27665729;22366787;22426308;32694869;35811451;32657847;22822383;28948053).; Changed publications to: 28948053, 32657847, 31813144, 25169058, 22426308, 34521483, 22366787, 34296532, 32694869, 31288860, 27665729, 22822383, 35811451; Changed phenotypes to: NICOLAIDES-BARAITSER SYNDROME, OMIM:601358, SMARCA2-related Nicolaides-Baraitser syndrome , OMIM:601358
DDG2P v5.3 SLC4A10 Achchuthan Shanmugasundram reviewed gene: SLC4A10: Rating: GREEN; Mode of pathogenicity: ; Publications: 38054405, 37459438, 31130284; Phenotypes: SLC4A10-related neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, OMIM:620746; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v5.3 SLC12A9 Achchuthan Shanmugasundram reviewed gene: SLC12A9: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38334070; Phenotypes: SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v5.3 SASS6 Achchuthan Shanmugasundram reviewed gene: SASS6: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38501757, 24951542, 30639237, 36739862; Phenotypes: SASS6-related severe microcephaly with brain abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v5.3 RBBP5 Achchuthan Shanmugasundram reviewed gene: RBBP5: Rating: GREEN; Mode of pathogenicity: ; Publications: 39036895; Phenotypes: RBBP5-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v5.3 RAB1A Achchuthan Shanmugasundram reviewed gene: RAB1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 37924809, 38091987; Phenotypes: RAB1A-related neurodevelopmental disorder with speech and motor delay and spasticity; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v5.3 PNPLA8 Achchuthan Shanmugasundram reviewed gene: PNPLA8: Rating: GREEN; Mode of pathogenicity: ; Publications: 29681094, 37671596, 34177434, 39082157, 37057294, 25512002; Phenotypes: PNPLA8-related progressive microcephaly with seizures and neurodegeneration; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v5.3 PLS3 Achchuthan Shanmugasundram reviewed gene: PLS3: Rating: GREEN; Mode of pathogenicity: ; Publications: 35752817, 28777485, 28748388, 29736964, 38043102, 37751738, 28620780, 25209159, 24616189, 24088043; Phenotypes: PLS3-related osteoporosis with fractures, OMIM:300910, PLS3-related diaphragmatic hernia and body-wall defects; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v5.3 PIK3CA Achchuthan Shanmugasundram edited their review of gene: PIK3CA: Added comment: The DDG2P confidence category for the disease PIK3CA-related overgrowth spectrum disorder with or without megalencephaly, capillary malformation, polymicrogyria and lipomatous overgrowth is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 22658544;22729224).; Changed phenotypes to: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501, CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918, HEMIMEGALENCEPHALY PIK3CA, PIK3CA-related overgrowth spectrum disorder with or without megalencephaly, capillary malformation, polymicrogyria and lipomatous overgrowth
DDG2P v5.3 PIGN Achchuthan Shanmugasundram edited their review of gene: PIGN: Added comment: The DDG2P confidence category for the disease PIGN-related multiple congenital anomalies-hypotonia-seizures syndrome, OMIM:614080 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 26364997;35468813;34051595;32585529;33193741;27300081;27038415;24852103;33966742;21493957;29096607;26419326;26394714;29330547;24253414;36363484;35812661;36322149).; Changed publications to: 33966742, 26364997, 29330547, 35468813, 34051595, 29096607, 26419326, 36322149, 24852103, 35812661, 27038415, 36363484, 26394714, 27300081, 21493957, 33193741, 24253414, 32585529; Changed phenotypes to: PIGN-related multiple congenital anomalies-hypotonia-seizures syndrome, OMIM:614080, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME, OMIM:614080
DDG2P v5.3 PCGF2 Achchuthan Shanmugasundram edited their review of gene: PCGF2: Added comment: The DDG2P confidence category for the disease PCGF2-related craniofacial neurological cardiovascular and skeletal features (Turnpenny-Fry syndrome), OMIM:618371 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 30526864;34750959;36105049;30343942).; Changed publications to: 36105049, 34750959, 30343942, 30526864; Changed phenotypes to: Craniofacial Neurological Cardiovascular and Skeletal Features, INTELLECTUAL DISABILITY, PCGF2-related craniofacial neurological cardiovascular and skeletal features (Turnpenny-Fry syndrome), OMIM:618371
DDG2P v5.3 OPHN1 Achchuthan Shanmugasundram edited their review of gene: OPHN1: Added comment: The DDG2P confidence category for the disease OPHN1-related intellectual developmental disorder , OMIM:300486 is definitive. The allelic requirement and mutation consequence are monoallelic_X_het and absent gene product (PMID: 30534410;29510240;24105372;20528889;12805098;12807966;32872024;33638601;9582072;18261018;29960046;27390894;16158428).; Changed publications to: 12805098, 20528889, 12807966, 30534410, 24105372, 29510240, 33638601, 9582072, 16158428, 32872024, 18261018, 29960046, 27390894; Changed phenotypes to: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED OPHN1-RELATED, OMIM:300486, OPHN1-related intellectual developmental disorder , OMIM:300486; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v5.3 NUP107 Achchuthan Shanmugasundram edited their review of gene: NUP107: Added comment: The DDG2P confidence category for the disease NUP107-related steroid resistant nephrotic syndrome with microcephaly, developmental delay and simplified gyration (Galloway-Mowat syndrome), OMIM:618348 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure;decreased gene product level (PMID: 30179222;28280135;26411495).; Changed rating: GREEN; Changed publications to: 28280135, 26411495, 30179222; Changed phenotypes to: NUP107-related steroid resistant nephrotic syndrome with microcephaly, developmental delay and simplified gyration (Galloway-Mowat syndrome), OMIM:618348, GALLOWAY-MOWAT SYNDROME 7, OMIM:618348
DDG2P v5.3 NPRL3 Achchuthan Shanmugasundram reviewed gene: NPRL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 26786403, 26285051, 34965576, 35136953, 27173016, 34868250, 26505888; Phenotypes: NPRL3-related familial focal epilepsy with or without focal cortical dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v5.3 NPRL2 Achchuthan Shanmugasundram reviewed gene: NPRL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 37259768, 31835056, 34965576, 27173016, 28199897, 34376795, 30093711, 26505888; Phenotypes: NPRL2-related familial focal epilepsy with or without focal cortical dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v5.3 NOP10 Achchuthan Shanmugasundram edited their review of gene: NOP10: Added comment: The DDG2P confidence category for the disease NOP10-related dyskeratosis congenita, OMIM:224230 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 17507419).; Changed rating: GREEN; Changed phenotypes to: NOP10-related dyskeratosis congenita, OMIM:224230, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, OMIM:224230
DDG2P v5.3 NHP2 Achchuthan Shanmugasundram edited their review of gene: NHP2: Added comment: The DDG2P confidence category for the disease NHP2-related dyskeratosis congenita, OMIM:613987 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 37440454;30472699;18523010;31985013).; Changed publications to: 37440454, 31985013, 30472699, 18523010; Changed phenotypes to: NHP2-related dyskeratosis congenita, OMIM:613987, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, OMIM:613987
DDG2P v5.3 NECTIN1 Achchuthan Shanmugasundram edited their review of gene: NECTIN1: Added comment: The DDG2P confidence category for the disease NECTIN1-related cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 10932188).; Changed rating: GREEN; Changed phenotypes to: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME, OMIM:225060, NECTIN1-related cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060
DDG2P v5.3 MYH9 Achchuthan Shanmugasundram edited their review of gene: MYH9: Added comment: The DDG2P confidence category for the disease MYH9-related macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, OMIM:155100 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure (PMID: 25077172;10973259).; Changed phenotypes to: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS, OMIM:155100, MYH9-related macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, OMIM:155100
DDG2P v5.3 MAF Achchuthan Shanmugasundram edited their review of gene: MAF: Added comment: The DDG2P confidence category for the disease MAF-related cataract, OMIM:610202 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 29314435;30659945;11772997;24664492;16470690). The DDG2P confidence category for the disease MAF-related cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation, OMIM:601088 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 25865493).; Changed publications to: 29314435, 24664492, 11772997, 16470690, 25865493, 30659945; Changed phenotypes to: MAF-related cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation, OMIM:601088, CATARACT 21, MULTIPLE TYPES, OMIM:610202, MAF-related cataract, OMIM:610202
DDG2P v5.3 LFNG Achchuthan Shanmugasundram commented on gene: LFNG: The DDG2P confidence category for the disease SPONDYLOCOSTAL DYSOSTOSIS TYPE 3, OMIM:609813 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 16385447).
DDG2P v5.3 LAMP2 Achchuthan Shanmugasundram edited their review of gene: LAMP2: Added comment: The DDG2P confidence category for the disease LAMP2-related Danon disease is definitive. The allelic requirement and mutation consequence are monoallelic_X_het and absent gene product;altered gene product structure;decreased gene product level (PMID: 19057086;3087571;8504498;15253947;30681346;19588270;20173215;10972294;15673802;12112061;15907287;30857840;16217705).; Changed publications to: 8504498, 12112061, 15673802, 15253947, 30857840, 16217705, 20173215, 15907287, 19588270, 30681346, 3087571, 19057086, 10972294; Changed phenotypes to: DANON DISEASE, OMIM:300257, LAMP2-related Danon disease; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v5.3 JPH1 Achchuthan Shanmugasundram reviewed gene: JPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39209426; Phenotypes: JPH1-related congenital myopathy with ptosis, OMIM:620964; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v5.3 HDAC3 Achchuthan Shanmugasundram reviewed gene: HDAC3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 39047730; Phenotypes: HDAC3-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v5.3 H3F3A Achchuthan Shanmugasundram edited their review of gene: H3F3A: Added comment: The DDG2P confidence category for the disease H3-3A-related Bryant-Li-Bhoj neurodevelopmental syndrome, OMIM:619720 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 33057194;31942419;33268356).; Changed publications to: 33057194, 31942419, 33268356; Changed phenotypes to: Craniofacial with neurodevelopment disorders, H3F3A associated neurodevelopmental disorder, H3-3A-related Bryant-Li-Bhoj neurodevelopmental syndrome, OMIM:619720
DDG2P v5.3 GNAI1 Achchuthan Shanmugasundram edited their review of gene: GNAI1: Added comment: The DDG2P confidence category for the disease GNAI1-related neurodevelopmental disorder with hypotonia, impaired speech, and behavioural abnormalities, OMIM:619854 is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 34819662;33473207).; Changed mode of pathogenicity: Other; Changed publications to: 34819662, 33473207; Changed phenotypes to: GNAI1-related neurodevelopmental disorder with hypotonia, impaired speech, and behavioural abnormalities, OMIM:619854, GNAI1 syndrome
DDG2P v5.3 GFER Achchuthan Shanmugasundram edited their review of gene: GFER: Added comment: The DDG2P confidence category for the disease GFER-related mitochondrial progressive myopathy with congenital cataract, hearing loss and developmental delay, OMIM:613076 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 19409522;26018198;28155230).; Changed rating: GREEN; Changed publications to: 19409522, 26018198, 28155230; Changed phenotypes to: MITOCHONDRIAL PROGRESSIVE MYOPATHY WITH CONGENITAL CATARACT HEARING LOSS AND DEVELOPMENTAL DELAY (MPMCHD, OMIM:613076, GFER-related mitochondrial progressive myopathy with congenital cataract, hearing loss and developmental delay, OMIM:613076
DDG2P v5.3 GABRD Achchuthan Shanmugasundram reviewed gene: GABRD: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25156961, 34633442; Phenotypes: GABRD-related neurodevelopmental disorder with epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v5.3 FXN Achchuthan Shanmugasundram reviewed gene: FXN: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22691228, 10633128, 26704351, 25566998, 28405347, 30681346, 22409940, 24705334; Phenotypes: FXN-related Friedreich ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v5.3 FEM1B Achchuthan Shanmugasundram reviewed gene: FEM1B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31036916, 38465576; Phenotypes: FEM1B-related neurodevelopmental disorder with or without brain abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v5.3 EXOSC8 Achchuthan Shanmugasundram reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: ; Publications: 38017281, 24989451, 34210538; Phenotypes: EXOSC8-related pontocerebellar hypoplasia, OMIM:616081; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v5.3 EPB41L3 Achchuthan Shanmugasundram reviewed gene: EPB41L3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 39292993; Phenotypes: EPB41L3-related developmental disorder with delayed myelination and seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v5.3 DLL1 Achchuthan Shanmugasundram edited their review of gene: DLL1: Added comment: The DDG2P confidence category for the disease DLL1-related neurodevelopmental disorder with nonspecific brain abnormalities, with or without seizures, OMIM:618709 is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure;decreased gene product level (PMID: 36590296;31353024;37204857).; Changed rating: GREEN; Changed publications to: 37204857, 36590296, 31353024; Changed phenotypes to: DLL1-related neurodevelopmental disorder with nonspecific brain abnormalities, with or without seizures, OMIM:618709, INTELLECTUAL DISABILITY, OMIM:616579
DDG2P v5.3 DIP2C Achchuthan Shanmugasundram reviewed gene: DIP2C: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38421105; Phenotypes: DIP2C-related developmental disorder with speech delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v5.3 CRYGD Achchuthan Shanmugasundram edited their review of gene: CRYGD: Added comment: The DDG2P confidence category for the disease CRYGD-related cataract, OMIM:115700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID: 12676897;12011157;17564961;18079686;10915766;10521291;9927684;20508808).; Changed rating: GREEN; Changed publications to: 18079686, 17564961, 10521291, 9927684, 12676897, 12011157, 20508808, 10915766; Changed phenotypes to: Cataract 2, multiple types, OMIM:115700, CRYGD-related cataract, OMIM:115700
DDG2P v5.3 CRYBB2 Achchuthan Shanmugasundram edited their review of gene: CRYBB2: Added comment: The DDG2P confidence category for the disease CRYBB2-related cataract, OMIM:601547 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure (PMID: 21245961;8812489;24312286;9158139;11424921;18449377;16179907;10634616;27385965).; Changed publications to: 27385965, 24312286, 8812489, 10634616, 9158139, 21245961, 18449377, 11424921, 16179907; Changed phenotypes to: CATARACT, COPPOCK-LIKE, OMIM:604307, CATARACT, CONGENITAL, CERULEAN TYPE, 2, OMIM:601547, CRYBB2-related cataract, OMIM:601547
DDG2P v5.3 CRYAB Achchuthan Shanmugasundram edited their review of gene: CRYAB: Added comment: The DDG2P confidence category for the disease CRYAB-related alpha-related B crystallinopathy is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 14681890;21130652;21337604;570292;28493373;9731540;23590293;19597569;30681346;16877416;16505043;38212463;32420686;11577372;21920752). The DDG2P confidence category for the disease CRYAB-related myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 21337604).; Changed rating: GREEN; Changed publications to: 570292, 9731540, 11577372, 21130652, 38212463, 19597569, 16877416, 14681890, 30681346, 21920752, 16505043, 21337604, 28493373, 23590293, 32420686; Changed phenotypes to: CRYAB-related alpha-related B crystallinopathy, CRYAB-related myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED, OMIM:613869, CATARACT POSTERIOR POLAR TYPE 2, OMIM:613763; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v5.3 CRELD1 Achchuthan Shanmugasundram edited their review of gene: CRELD1: Added comment: The DDG2P confidence category for the disease CRELD1-related neurodevelopmental disorder with hypotonia and seizures, OMIM:620771 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure;decreased gene product level (PMID: 37947183). The DDG2P confidence category for the disease CRELD1-related atrioventricular septal defect susceptibility, OMIM:606217 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 12632326;22740159;21080147).; Changed publications to: 37947183, 21080147, 22740159, 12632326; Changed phenotypes to: CRELD1-related neurodevelopmental disorder with hypotonia and seizures, OMIM:620771, HETEROTAXY SYNDROME, OMIM:207574, CRELD1-related neurodevelopmental disorder with hypotonia and seizures, CRELD1-related atrioventricular septal defect susceptibility, OMIM:606217; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v5.3 CCT6A Achchuthan Shanmugasundram reviewed gene: CCT6A: Rating: GREEN; Mode of pathogenicity: ; Publications: 39480921; Phenotypes: CCT6A-related neurodevelopmental disorder with or without brain abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v5.3 CCT3 Achchuthan Shanmugasundram reviewed gene: CCT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 39480921; Phenotypes: CCT3-related neurodevelopmental disorder with hypomyelination of white matter, OMIM:621034; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v5.3 ATOH7 Achchuthan Shanmugasundram edited their review of gene: ATOH7: Added comment: The DDG2P confidence category for the disease ATOH7-related persistent hyperplastic primary vitreous, OMIM:221900 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;cis-regulatory or promotor mutation (PMID: 28192794;22068589;22645276;21441919;26933893).; Changed rating: GREEN; Changed publications to: 28192794, 22645276, 22068589, 26933893, 21441919; Changed phenotypes to: ATOH7-related persistent hyperplastic primary vitreous, OMIM:221900, RETINAL NON-ATTACHMENT CONGENITAL NON-SYNDROMIC, OMIM:221900
DDG2P v5.3 AFF3 Achchuthan Shanmugasundram edited their review of gene: AFF3: Added comment: The DDG2P confidence category for the disease AFF3-related intellectual disability is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and decreased gene product level (PMID: 38811945). The DDG2P confidence category for the disease AFF3-related KINSSHIP syndrome, OMIM:619297 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 33961779;36576140;38811945).; Changed publications to: 38811945, 33961779, 36576140; Changed phenotypes to: Skeletal dysplasia with severe neurological disease, AFF3-related KINSSHIP syndrome, OMIM:619297, AFF3-related intellectual disability
DDG2P v5.2 GNAI1 Achchuthan Shanmugasundram Mode of pathogenicity for gene GNAI1 was changed from to Other
DDG2P v5.2 OPHN1 Achchuthan Shanmugasundram Mode of inheritance for gene OPHN1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v5.2 LAMP2 Achchuthan Shanmugasundram Mode of inheritance for gene LAMP2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v5.2 CRYAB Achchuthan Shanmugasundram Source Expert Review Green was added to CRYAB.
Mode of inheritance for gene CRYAB was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v5.2 CYHR1 Achchuthan Shanmugasundram gene: CYHR1 was added
gene: CYHR1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CYHR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYHR1 were set to 38641995
Phenotypes for gene: CYHR1 were set to ZFTRAF1-related neurodevelopmental disorder
Mode of pathogenicity for gene: CYHR1 was set to Other
DDG2P v5.2 PLA2G16 Achchuthan Shanmugasundram gene: PLA2G16 was added
gene: PLA2G16 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: PLA2G16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLA2G16 were set to 37919452
Phenotypes for gene: PLA2G16 were set to PLAAT3-related lipodystrophy syndrome with neurological features, OMIM:620683
DDG2P v5.2 DLG2 Achchuthan Shanmugasundram gene: DLG2 was added
gene: DLG2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DLG2 were set to 37860969
Phenotypes for gene: DLG2 were set to DLG2-related neurodevelopmental disorder
Mode of pathogenicity for gene: DLG2 was set to Other
DDG2P v5.2 COX18 Achchuthan Shanmugasundram gene: COX18 was added
gene: COX18 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: COX18 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX18 were set to 38960055; 37468577; 39006432
Phenotypes for gene: COX18 were set to COX18-related peripheral neuropathy
Mode of pathogenicity for gene: COX18 was set to Other
DDG2P v5.2 CELSR1 Achchuthan Shanmugasundram gene: CELSR1 was added
gene: CELSR1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CELSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CELSR1 were set to 38272662
Phenotypes for gene: CELSR1 were set to CELSR1-related fetal hydrops
Mode of pathogenicity for gene: CELSR1 was set to Other
DDG2P v5.2 CCT8 Achchuthan Shanmugasundram gene: CCT8 was added
gene: CCT8 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CCT8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CCT8 were set to CCT8-related neurodevelopmental disorder with brain abnormalities
DDG2P v5.2 CCT7 Achchuthan Shanmugasundram gene: CCT7 was added
gene: CCT7 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CCT7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CCT7 were set to 39480921
Phenotypes for gene: CCT7 were set to CCT7-related neurodevelopmental disorder with brain abnormalities
DDG2P v5.2 CCT5 Achchuthan Shanmugasundram gene: CCT5 was added
gene: CCT5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CCT5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CCT5 were set to 39480921
Phenotypes for gene: CCT5 were set to CCT5-related neurodevelopmental disorder with brain abnormalities
DDG2P v5.2 CCT4 Achchuthan Shanmugasundram gene: CCT4 was added
gene: CCT4 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CCT4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CCT4 were set to 39480921
Phenotypes for gene: CCT4 were set to CCT4-related neurodevelopmental disorder with brain abnormalities
DDG2P v5.2 ANO3 Achchuthan Shanmugasundram gene: ANO3 was added
gene: ANO3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ANO3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ANO3 were set to 38079528; 33502045
Phenotypes for gene: ANO3 were set to ANO3-related dystonia, OMIM:615034
Mode of pathogenicity for gene: ANO3 was set to Other
DDG2P v5.2 ZSCAN10 Achchuthan Shanmugasundram gene: ZSCAN10 was added
gene: ZSCAN10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ZSCAN10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZSCAN10 were set to 38386308
Phenotypes for gene: ZSCAN10 were set to ZSCAN10-related neurodevelopmental disorder with oto-facial malformations
Mode of pathogenicity for gene: ZSCAN10 was set to Other
DDG2P v5.2 ZNF699 Achchuthan Shanmugasundram gene: ZNF699 was added
gene: ZNF699 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ZNF699 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF699 were set to 34374989; 39424669; 35205213; 33875846; 36801247
Phenotypes for gene: ZNF699 were set to ZNF699-related developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities (DEGCAGS syndrome), OMIM:619488
DDG2P v5.2 ZFX Achchuthan Shanmugasundram gene: ZFX was added
gene: ZFX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ZFX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: ZFX were set to 38325380
Phenotypes for gene: ZFX were set to ZFX-related neurodevelopmental disorder with hypotonia, congenital anomalies and facial dysmorphism with or without hyperparathyroidism
DDG2P v5.2 UBA2 Achchuthan Shanmugasundram gene: UBA2 was added
gene: UBA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: UBA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: UBA2 were set to 31587267; 28110515; 34040189; 37221169; 32758660; 31332306; 34159400; 39149811
Phenotypes for gene: UBA2 were set to UBA2-related congenital anomalies with or without aplasia cutis congenita and ectrodactyly and variable developmental delay, OMIM:619959
DDG2P v5.2 TCP1 Achchuthan Shanmugasundram gene: TCP1 was added
gene: TCP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TCP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TCP1 were set to 39480921
Phenotypes for gene: TCP1 were set to TCP1-related neurodevelopmental disorder with polymicrogyria
DDG2P v5.2 SNF8 Achchuthan Shanmugasundram gene: SNF8 was added
gene: SNF8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SNF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNF8 were set to 38423010
Phenotypes for gene: SNF8 were set to SNF8-related disease spectrum (severe developmental and epileptic encephalopathy to syndromic optic atrophy)
DDG2P v5.2 SLC4A10 Achchuthan Shanmugasundram gene: SLC4A10 was added
gene: SLC4A10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC4A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC4A10 were set to 31130284; 37459438; 38054405
Phenotypes for gene: SLC4A10 were set to SLC4A10-related neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, OMIM:620746
DDG2P v5.2 SLC12A9 Achchuthan Shanmugasundram gene: SLC12A9 was added
gene: SLC12A9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC12A9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A9 were set to 38334070
Phenotypes for gene: SLC12A9 were set to SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects
Mode of pathogenicity for gene: SLC12A9 was set to Other
DDG2P v5.2 SASS6 Achchuthan Shanmugasundram gene: SASS6 was added
gene: SASS6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SASS6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SASS6 were set to 38501757; 24951542; 30639237; 36739862
Phenotypes for gene: SASS6 were set to SASS6-related severe microcephaly with brain abnormalities
Mode of pathogenicity for gene: SASS6 was set to Other
DDG2P v5.2 RAB1A Achchuthan Shanmugasundram gene: RAB1A was added
gene: RAB1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RAB1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAB1A were set to 37924809; 38091987
Phenotypes for gene: RAB1A were set to RAB1A-related neurodevelopmental disorder with speech and motor delay and spasticity
DDG2P v5.2 PNPLA8 Achchuthan Shanmugasundram gene: PNPLA8 was added
gene: PNPLA8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PNPLA8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA8 were set to 25512002; 34177434; 37671596; 37057294; 39082157; 29681094
Phenotypes for gene: PNPLA8 were set to PNPLA8-related progressive microcephaly with seizures and neurodegeneration
DDG2P v5.2 PLS3 Achchuthan Shanmugasundram gene: PLS3 was added
gene: PLS3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PLS3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: PLS3 were set to 24088043; 37751738; 29736964; 25209159; 38043102; 35752817; 24616189; 28620780; 28777485; 28748388
Phenotypes for gene: PLS3 were set to PLS3-related diaphragmatic hernia and body-wall defects; PLS3-related osteoporosis with fractures, OMIM:300910
DDG2P v5.2 NPRL3 Achchuthan Shanmugasundram gene: NPRL3 was added
gene: NPRL3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NPRL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NPRL3 were set to 35136953; 34965576; 34868250; 26285051; 26786403; 27173016; 26505888
Phenotypes for gene: NPRL3 were set to NPRL3-related familial focal epilepsy with or without focal cortical dysplasia
DDG2P v5.2 NPRL2 Achchuthan Shanmugasundram gene: NPRL2 was added
gene: NPRL2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NPRL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NPRL2 were set to 28199897; 34965576; 37259768; 34376795; 30093711; 31835056; 27173016; 26505888
Phenotypes for gene: NPRL2 were set to NPRL2-related familial focal epilepsy with or without focal cortical dysplasia
DDG2P v5.2 JPH1 Achchuthan Shanmugasundram gene: JPH1 was added
gene: JPH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: JPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JPH1 were set to 39209426
Phenotypes for gene: JPH1 were set to JPH1-related congenital myopathy with ptosis, OMIM:620964
DDG2P v5.2 HDAC3 Achchuthan Shanmugasundram gene: HDAC3 was added
gene: HDAC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HDAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HDAC3 were set to 39047730
Phenotypes for gene: HDAC3 were set to HDAC3-related neurodevelopmental disorder
Mode of pathogenicity for gene: HDAC3 was set to Other
DDG2P v5.2 GABRD Achchuthan Shanmugasundram gene: GABRD was added
gene: GABRD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GABRD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GABRD were set to 25156961; 34633442
Phenotypes for gene: GABRD were set to GABRD-related neurodevelopmental disorder with epilepsy
Mode of pathogenicity for gene: GABRD was set to Other
DDG2P v5.2 FXN Achchuthan Shanmugasundram gene: FXN was added
gene: FXN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FXN were set to 22691228; 24705334; 26704351; 22409940; 28405347; 25566998; 10633128; 30681346
Phenotypes for gene: FXN were set to FXN-related Friedreich ataxia
Mode of pathogenicity for gene: FXN was set to Other
DDG2P v5.2 FEM1B Achchuthan Shanmugasundram gene: FEM1B was added
gene: FEM1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FEM1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FEM1B were set to 31036916; 38465576
Phenotypes for gene: FEM1B were set to FEM1B-related neurodevelopmental disorder with or without brain abnormalities
Mode of pathogenicity for gene: FEM1B was set to Other
DDG2P v5.2 EPB41L3 Achchuthan Shanmugasundram gene: EPB41L3 was added
gene: EPB41L3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EPB41L3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPB41L3 were set to 39292993
Phenotypes for gene: EPB41L3 were set to EPB41L3-related developmental disorder with delayed myelination and seizures
Mode of pathogenicity for gene: EPB41L3 was set to Other
DDG2P v5.2 DIP2C Achchuthan Shanmugasundram gene: DIP2C was added
gene: DIP2C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DIP2C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DIP2C were set to 38421105
Phenotypes for gene: DIP2C were set to DIP2C-related developmental disorder with speech delay
Mode of pathogenicity for gene: DIP2C was set to Other
DDG2P v5.2 CCT6A Achchuthan Shanmugasundram gene: CCT6A was added
gene: CCT6A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CCT6A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CCT6A were set to 39480921
Phenotypes for gene: CCT6A were set to CCT6A-related neurodevelopmental disorder with or without brain abnormalities
DDG2P v5.2 CCT3 Achchuthan Shanmugasundram gene: CCT3 was added
gene: CCT3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CCT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CCT3 were set to 39480921
Phenotypes for gene: CCT3 were set to CCT3-related neurodevelopmental disorder with hypomyelination of white matter, OMIM:621034
DDG2P v4.15 XYLT1 Sarah Leigh reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
DDG2P v4.14 TMEM94 Arina Puzriakova Phenotypes for gene: TMEM94 were changed from Neurodevelopmental Delay Congenital Heart Defects and Distinct Facial Dysmorphism to Intellectual developmental disorder with cardiac defects and dysmorphic facies, OMIM:618316
DDG2P v4.11 DAW1 Arina Puzriakova Phenotypes for gene: DAW1 were changed from DAW1-associated ciliopathy to Ciliary dyskinesia, primary, 52, OMIM:620570
DDG2P v4.10 RPGRIP1 Achchuthan Shanmugasundram edited their review of gene: RPGRIP1: Added comment: The DDG2P mutation consequence for RPGRIP1-related retinal dystrophy, OMIM:608194 has been updated to absent gene product,altered gene product structure.; Changed publications to: 12920076, 11283794, 37761981, 11528500, 26992781; Changed phenotypes to: RPGRIP1-related retinal dystrophy, OMIM:608194, CONE-ROD DYSTROPHY 13, OMIM:608194, LEBER CONGENITAL AMAUROSIS 6, OMIM:613826
DDG2P v4.10 ODC1 Achchuthan Shanmugasundram edited their review of gene: ODC1: Added comment: The DDG2P mutation consequence for ODC1-related neurodevelopmental disorder has been updated to altered gene product structure.; Changed mode of pathogenicity: Other; Changed publications to: 36007106, 34477286, 37469105, 30475435; Changed phenotypes to: ODC1-related developmental disorder (monoallelic), ODC1-related neurodevelopmental disorder
DDG2P v4.10 NOVA2 Achchuthan Shanmugasundram edited their review of gene: NOVA2: Added comment: The DDG2P mutation consequence for NOVA2-associated neurodevelopmental disorder has been updated to altered gene product structure.; Changed mode of pathogenicity: Other; Changed publications to: 35607920, 32197073; Changed phenotypes to: Intellectual disability with ataxia/spasticity, NOVA2-associated neurodevelopmental disorder
DDG2P v4.10 EDAR Achchuthan Shanmugasundram edited their review of gene: EDAR: Added comment: The DDG2P mutation consequence for EDAR-related hypohidrotic ectodermal dysplasia, OMIM:129490 has been updated to absent gene product,altered gene product structure.; Changed publications to: 33943035, 28357203, 20033817, 18231121, 16435307, 16029325, 20979233, 19551394, 18816645, 26336973, 32819890, 21771270, 33205897, 17501952, 23210707, 32325225, 20199431, 32906216, 24641098, 10431241, 24764207, 24884697, 27168349, 15373768, 21876339, 31310406; Changed phenotypes to: EDAR-related hypohidrotic ectodermal dysplasia, OMIM:129490, EDAR-related hypohidrotic ectodermal dysplasia, OMIM:224900, Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, OMIM:224900, ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
DDG2P v4.10 ASAH1 Achchuthan Shanmugasundram edited their review of gene: ASAH1: Added comment: The DDG2P mutation consequence for ASAH1-related Farber lipogranulomatosis has been updated to absent gene product,altered gene product structure.; Changed publications to: 16951918, 32875576, 22703880, 10610716, 11241842, 8955159; Changed phenotypes to: SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY, OMIM:159950, FARBER LIPOGRANULOMATOSIS, OMIM:228000, ASAH1-related Farber lipogranulomatosis, OMIM:228000
DDG2P v4.10 ANKRD11 Achchuthan Shanmugasundram edited their review of gene: ANKRD11: Added comment: The DDG2P mutation consequence for KBG SYNDROME, OMIM:148050 has been updated to decreased gene product level.; Changed mode of pathogenicity: Other; Changed publications to: 35394473, 33262785, 27667800, 33476899, 26269249, 28449295, 37665295, 33653342, 30088855, 35682590, 35833929, 25543316, 28815928, 23494856, 28250421, 31566922, 25838844, 32820523, 25464108, 25652421, 33354850, 36584991, 36628575, 34547584, 33955014, 27900361, 34247373, 30877071, 29224748, 23184435, 35598261, 28566769, 25424714, 21782149
DDG2P v4.10 ZBTB47 Achchuthan Shanmugasundram reviewed gene: ZBTB47: Rating: RED; Mode of pathogenicity: Other; Publications: 38327012; Phenotypes: ZBTB47-related developmental delay, intellectual disability, hypotonia and seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 YWHAZ Achchuthan Shanmugasundram reviewed gene: YWHAZ: Rating: RED; Mode of pathogenicity: Other; Publications: 36001342; Phenotypes: YWHAZ-related developmental delay with simplified gyral pattern; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 UBE3C Achchuthan Shanmugasundram reviewed gene: UBE3C: Rating: RED; Mode of pathogenicity: ; Publications: 36401616; Phenotypes: UBE3C-related neurodevelopmental disorder with absent speech and movement and behavioural abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 RPH3A Achchuthan Shanmugasundram reviewed gene: RPH3A: Rating: RED; Mode of pathogenicity: Other; Publications: 37403762; Phenotypes: RPH3A-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 PPM1K Achchuthan Shanmugasundram reviewed gene: PPM1K: Rating: RED; Mode of pathogenicity: ; Publications: 23086801, 36706222; Phenotypes: PPM1K-related maple syrup urine disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 PABPC1 Achchuthan Shanmugasundram reviewed gene: PABPC1: Rating: RED; Mode of pathogenicity: Other; Publications: 35511136; Phenotypes: PABPC1-related developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 MKL2 Achchuthan Shanmugasundram reviewed gene: MKL2: Rating: RED; Mode of pathogenicity: Other; Publications: 37013900; Phenotypes: MRTFB-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 LSM11 Achchuthan Shanmugasundram reviewed gene: LSM11: Rating: RED; Mode of pathogenicity: Other; Publications: 33230297; Phenotypes: LSM11-related Aicardi-Goutieres syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 IKZF2 Achchuthan Shanmugasundram reviewed gene: IKZF2: Rating: RED; Mode of pathogenicity: Other; Publications: 37316189; Phenotypes: IKZF2-related ICHAD syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 FICD Achchuthan Shanmugasundram reviewed gene: FICD: Rating: RED; Mode of pathogenicity: Other; Publications: 36704923; Phenotypes: FICD-related infancy-onset diabetes and neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 DENND5B Achchuthan Shanmugasundram reviewed gene: DENND5B: Rating: RED; Mode of pathogenicity: Other; Publications: 38387458; Phenotypes: DENND5B-related neurodevelopmental disorder with cortical migration and white matter abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 CCDC78 Achchuthan Shanmugasundram edited their review of gene: CCDC78: Added comment: The DDG2P confidence category for the disease CCDC78-related congenital myopathy, OMIM:614807 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID: 22818856;25635128).; Changed rating: RED; Changed publications to: 22818856, 25635128; Changed phenotypes to: CONGENITAL MYOPATHY WITH PROMINENT INTERNAL NUCLEI AND ATYPICAL CORES, OMIM:614807, CCDC78-related congenital myopathy, OMIM:614807
DDG2P v4.10 ANGPT2 Achchuthan Shanmugasundram reviewed gene: ANGPT2: Rating: RED; Mode of pathogenicity: Other; Publications: 34876502; Phenotypes: ANGPT2-related non-immune hydrops fetalis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 AGPAT3 Achchuthan Shanmugasundram reviewed gene: AGPAT3: Rating: RED; Mode of pathogenicity: ; Publications: 37821758; Phenotypes: AGPAT3-related intellectual disability and retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 ZNF808 Achchuthan Shanmugasundram reviewed gene: ZNF808: Rating: GREEN; Mode of pathogenicity: ; Publications: 37308312, 37973953; Phenotypes: ZNF808-related pancreatic agenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 ZFHX3 Achchuthan Shanmugasundram edited their review of gene: ZFHX3: Added comment: The DDG2P confidence category for the disease ZFHX3-related neurodevelopmental disorder, OMIM:104155 is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and decreased gene product level (PMID: 38412861;30809043).; Changed rating: GREEN; Changed mode of pathogenicity: Other; Changed publications to: 30809043, 38412861, 32502225; Changed phenotypes to: ZFHX3-related neurodevelopmental disorder, OMIM:104155, ZFHX3-related developmental disorder (monoallelic)
DDG2P v4.10 ZBTB11 Achchuthan Shanmugasundram reviewed gene: ZBTB11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31130284, 35104841, 36068688, 29893856, 38899514; Phenotypes: ZBTB11-related neurodevelopmental disorder with or without cataracts and movement disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 YWHAE Achchuthan Shanmugasundram reviewed gene: YWHAE: Rating: GREEN; Mode of pathogenicity: ; Publications: 36999555; Phenotypes: YWHAE-related developmental delay, seizures, hypotonia and brain abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 WNT7B Achchuthan Shanmugasundram reviewed gene: WNT7B: Rating: GREEN; Mode of pathogenicity: ; Publications: 35790350; Phenotypes: WNT7B-related PDAC syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 U2AF2 Achchuthan Shanmugasundram edited their review of gene: U2AF2: Added comment: The DDG2P confidence category for the disease U2AF2-related neurodevelopmental disorder is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 34112922;37962958;36747105;33644862;33057194).; Changed publications to: 36747105, 33057194, 37962958, 33644862, 34112922; Changed phenotypes to: U2AF2-related developmental disorder (monoallelic), U2AF2-related neurodevelopmental disorder
DDG2P v4.10 TUBA1A Achchuthan Shanmugasundram edited their review of gene: TUBA1A: Added comment: The DDG2P confidence category for the disease TUBA1A-associated tubulinopathy, OMIM:611603 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 33649541;35686685;17218254;18954413;18728072;30744660;30016746;17584854;21403111).; Changed mode of pathogenicity: Other; Changed publications to: 30744660, 17218254, 30016746, 18954413, 21403111, 33649541, 18728072, 17584854, 35686685; Changed phenotypes to: TUBA1A-associated tubulinopathy, OMIM:611603, INTELLECTUAL DISABILITY, OMIM:616579, LISSENCEPHALY TYPE 3, OMIM:611603
DDG2P v4.10 TTI1 Achchuthan Shanmugasundram reviewed gene: TTI1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36724785; Phenotypes: TTI1-related microcephaly, intellectual disability and ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 TSPEAR Achchuthan Shanmugasundram reviewed gene: TSPEAR: Rating: GREEN; Mode of pathogenicity: ; Publications: 34042254, 27736875, 37009414; Phenotypes: TSPEAR-related ectodermal dysplasia and tooth agenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 TOR1A Achchuthan Shanmugasundram reviewed gene: TOR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 30244176, 33175450, 33832800, 28516161, 36757831; Phenotypes: TOR1A-associated arthrogryposis multiplex congenita (AR); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 TMEM63B Achchuthan Shanmugasundram reviewed gene: TMEM63B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37421948; Phenotypes: TMEM63B-related developmental and epileptic encephalopathy with anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 TFE3 Achchuthan Shanmugasundram edited their review of gene: TFE3: Added comment: The DDG2P confidence category for the disease TFE3-related intellectual disability with pigmentary mosaicism and coarse features is definitive. The allelic requirement and mutation consequence are monoallelic_X_het and altered gene product structure (PMID: 33057194;31833172;32409512;30595499).; Changed publications to: 31833172, 32409512, 30595499, 33057194; Changed phenotypes to: TFE3-related intellectual disability with pigmentary mosaicism, TFE3-related intellectual disability with pigmentary mosaicism and coarse features, Intellectual disability with pigmentary mosaicism and storage disorder
DDG2P v4.10 TERT Achchuthan Shanmugasundram edited their review of gene: TERT: Added comment: The DDG2P confidence category for the disease Dyskeratosis Congenita, OMIM:613989 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure (PMID: 16247010;30523342;25067791;35927969). The DDG2P confidence category for the disease TERT-related Dyskeratosis congenita, OMIM:613989 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID: 35477117;34890115;26546739;17785587).; Changed publications to: 30523342, 26546739, 35477117, 34890115, 16247010, 25067791, 17785587, 35927969; Changed phenotypes to: Dyskeratosis Congenita, OMIM:613989, Dyskeratosis congenita, autosomal recessive 4, TERT-related Dyskeratosis congenita, OMIM:613989; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v4.10 TDRD7 Achchuthan Shanmugasundram edited their review of gene: TDRD7: Added comment: The DDG2P confidence category for the disease TDRD7-related cataract with or without azoospermia, OMIM:613887 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;uncertain (PMID: 21436445;28418495;31048812).; Changed rating: GREEN; Changed publications to: 31048812, 21436445, 28418495; Changed phenotypes to: TDRD7-related cataract with or without azoospermia, OMIM:613887, CATARACT CONGENITAL AUTOSOMAL RECESSIVE TYPE 4, OMIM:613887
DDG2P v4.10 TDP2 Achchuthan Shanmugasundram reviewed gene: TDP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34606976, 31410782, 32651480, 30109272, 24658003; Phenotypes: TDP2-related spinocerebellar ataxia with seizures and developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 TBC1D32 Achchuthan Shanmugasundram reviewed gene: TBC1D32: Rating: GREEN; Mode of pathogenicity: ; Publications: 31585110, 32573025, 36826837, 32060556, 24285566; Phenotypes: TBC1D32-related ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 STX1A Achchuthan Shanmugasundram reviewed gene: STX1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 36564538; Phenotypes: STX1A-associated neurodevelopmental disorder with epilepsy, STX1A-associated neurodevelopmental disorder without epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 SNAPC4 Achchuthan Shanmugasundram reviewed gene: SNAPC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 22222761, 36965478; Phenotypes: SNAPC4-related neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, OMIM:620515; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 SLC18A2 Achchuthan Shanmugasundram reviewed gene: SLC18A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23363473, 36318270; Phenotypes: SLC18A2-related neurotransmitter disorder with dystonia and oculogyric crisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 SCAPER Achchuthan Shanmugasundram edited their review of gene: SCAPER: Added comment: The DDG2P confidence category for the disease SCAPER-related neurodevelopmental disorder and retinitis pigmentosa is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure;decreased gene product level (PMID: 28041643;28794130;31069901;21937992;31192531;30561111;30723319;37160720;29302074).; Changed rating: GREEN; Changed publications to: 37160720, 28794130, 29302074, 31069901, 28041643, 30561111, 30723319, 21937992, 31192531; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, SCAPER-related neurodevelopmental disorder and retinitis pigmentosa
DDG2P v4.10 SART3 Achchuthan Shanmugasundram reviewed gene: SART3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37296101; Phenotypes: SART3-related neurodevelopmental disorder with 46,XY gonadal dysgenesis (INDYGON); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 RTEL1 Achchuthan Shanmugasundram edited their review of gene: RTEL1: Added comment: The DDG2P confidence category for the disease RTEL1-related dyskeratosis congenita is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 23329068;23453664). The DDG2P confidence category for the disease RTEL1-related dyskeratosis congenita is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure (PMID: 23329068;23453664).; Changed publications to: 23329068, 23453664; Changed phenotypes to: RTEL1-related dyskeratosis congenita, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, OMIM:615190
DDG2P v4.10 RRAGC Achchuthan Shanmugasundram reviewed gene: RRAGC: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37057673, 27234373; Phenotypes: RRAGC-related congenital dilated cardiomyopathy with hyperlactatemia, deranged liver function and cataracts; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 RPS6KA3 Achchuthan Shanmugasundram edited their review of gene: RPS6KA3: Added comment: The DDG2P confidence category for the disease RPS6KA3-related Coffin-Lowry syndrome, OMIM:303600 is definitive. The allelic requirement and mutation consequence are monoallelic_X_het and absent gene product;altered gene product structure (PMID: 14986828;10094187;9837815;32858545;26297997;8955270;35888677;11180593;15214012;16879200; 11992250;35038833;23261961;36125370;16691578;31400131;12558110;29678278;9887375;10319851;17717706;26043507;21614984;25044551; 12439904;10528858;17100996).; Changed publications to: 9887375, 17717706, 11180593, 31400131, 15214012, 26297997, 32858545, 14986828, 35038833, 12439904, 26043507, 23261961, 29678278, 35888677, 17100996, 11992250, 16879200, 10094187, 16691578, 9837815, 12558110, 10319851, 36125370, 21614984, 10528858, 25044551, 8955270; Changed phenotypes to: Coffin-Lowry Syndrome 2 RPS6KA3 XLD, Coffin-Lowry Syndrome 2 RPS6KA3 XLR, RPS6KA3-related Coffin-Lowry syndrome, OMIM:303600
DDG2P v4.10 RPL26 Achchuthan Shanmugasundram commented on gene: RPL26: The DDG2P confidence category for the disease DIAMOND-BLACKFAN ANEMIA 11, OMIM:614900 is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID: 22431104).
DDG2P v4.10 RNU4-2 Achchuthan Shanmugasundram reviewed gene: RNU4-2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38821540, 38991538; Phenotypes: RNU4-2 related neurodevelopmental disorder with microcephaly and seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 RNH1 Achchuthan Shanmugasundram reviewed gene: RNH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36935417, 37191094; Phenotypes: RNH1-related susceptibility to infection-related encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 RABGAP1 Achchuthan Shanmugasundram reviewed gene: RABGAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36083289; Phenotypes: RABGAP1-related neurodevelopmental disorder with microcephaly and sensorineural hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 RAB34 Achchuthan Shanmugasundram reviewed gene: RAB34: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37619988, 37384395; Phenotypes: RAB34-related orofaciodigital syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 PSMC3 Achchuthan Shanmugasundram reviewed gene: PSMC3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37256937; Phenotypes: PSMC3-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 PRRX1 Achchuthan Shanmugasundram edited their review of gene: PRRX1: Added comment: The DDG2P confidence category for the disease PRRX1-related craniosynostosis is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure;decreased gene product level and incomplete penetrance(PMID: 37154149). The DDG2P confidence category for the disease AGNATHIA-OTOCEPHALY COMPLEX monoallelic is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 22211708;22674740;21294718;23444262;37154149). The DDG2P confidence category for the disease AGNATHIA-OTOCEPHALY COMPLEX biallelic is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID: 22211708;23444262).; Changed rating: GREEN; Changed publications to: 37154149, 22674740, 22211708, 23444262, 21294718; Changed phenotypes to: AGNATHIA-OTOCEPHALY COMPLEX biallelic, AGNATHIA-OTOCEPHALY COMPLEX monoallelic, PRRX1-related craniosynostosis; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 PRPF19 Achchuthan Shanmugasundram reviewed gene: PRPF19: Rating: GREEN; Mode of pathogenicity: ; Publications: 37962958; Phenotypes: PRPF19-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 PPFIA3 Achchuthan Shanmugasundram reviewed gene: PPFIA3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38181735; Phenotypes: PPFIA3-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 POMGNT2 Achchuthan Shanmugasundram commented on gene: POMGNT2: The DDG2P confidence category for the disease WALKER WARBERG SYNDROME, OMIM:614830 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 22958903).
DDG2P v4.10 POLA1 Achchuthan Shanmugasundram edited their review of gene: POLA1: Added comment: The DDG2P confidence category for the disease POLA1-related pigmentary disorder, reticulate, with systemic manifestations is definitive. The allelic requirement and mutation consequence are monoallelic_X_hem and absent gene product (PMID: 27019277). The DDG2P confidence category for the disease VAN ESCH-O'DRISCOLL SYNDROME, OMIM:301030 is definitive. The allelic requirement and mutation consequence are monoallelic_X_hem and absent gene product (PMID: 31006512).; Changed publications to: 27019277, 31006512; Changed phenotypes to: VAN ESCH-O'DRISCOLL SYNDROME, OMIM:301030, POLA1-related pigmentary disorder, reticulate, with systemic manifestations
DDG2P v4.10 PLAG1 Achchuthan Shanmugasundram reviewed gene: PLAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33291420, 34480472; Phenotypes: PLAG1-associated Silver Russell Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 PIP5K1C Achchuthan Shanmugasundram edited their review of gene: PIP5K1C: Added comment: The DDG2P confidence category for the disease PIP5K1C-associated neurodevelopmental disorder is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 37451268). The DDG2P confidence category for the disease LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3, OMIM:611369 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure.; Changed rating: GREEN; Changed publications to: 37451268; Changed phenotypes to: LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3, OMIM:611369, PIP5K1C-associated neurodevelopmental disorder; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 PIGP Achchuthan Shanmugasundram reviewed gene: PIGP: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334793, 31139695, 32042915, 37125481; Phenotypes: PIGP-associated multiple congenital anomalies-hypotonia-seizures syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 PHF5A Achchuthan Shanmugasundram reviewed gene: PHF5A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37422718, 33811463; Phenotypes: PHF5A-related neurodevelopmental disorder with congenital malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 PEX14 Achchuthan Shanmugasundram edited their review of gene: PEX14: Added comment: The DDG2P confidence category for the disease PEX14-related autosomal dominant Zellweger spectrum disorder is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 37493040). The DDG2P confidence category for the disease PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K, OMIM:601791 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product.; Changed publications to: 37493040; Changed phenotypes to: PEX14-related autosomal dominant Zellweger spectrum disorder, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K, OMIM:601791
DDG2P v4.10 PAX1 Achchuthan Shanmugasundram edited their review of gene: PAX1: Added comment: The DDG2P confidence category for the disease OTOFACIOCERVICAL SYNDROME, OMIM:166780 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 28657137;23851939;29681087). The DDG2P confidence category for the disease PAX1-related oculo-auriculo-vertebral syndrome is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product.; Changed publications to: 28657137, 29681087, 23851939; Changed phenotypes to: OTOFACIOCERVICAL SYNDROME, OMIM:166780, PAX1-related oculo-auriculo-vertebral syndrome
DDG2P v4.10 NLGN4X Achchuthan Shanmugasundram edited their review of gene: NLGN4X: Added comment: The DDG2P confidence category for the disease NLGN4X-related autism and intellectual disability, OMIM:300495 is strong. The allelic requirement and mutation consequence are monoallelic_X_het and absent gene product (PMID: 33369065;12669065;16648374;28263302;14963808;26350204;23352163;32243781).; Changed rating: GREEN; Changed publications to: 32243781, 33369065, 28263302, 14963808, 23352163, 16648374, 12669065, 26350204; Changed phenotypes to: SUSCEPTIBILITY TO AUTISM X-LINKED TYPE 2, OMIM:300495, NLGN4X-related autism and intellectual disability, OMIM:300495; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v4.10 NDST1 Achchuthan Shanmugasundram edited their review of gene: NDST1: Added comment: The DDG2P confidence category for the disease NDST1-related intellectual disability with or without seizures is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID: 38129107;27620904;31164858;21937992;28600779;32878022;25125150;28211985).; Changed rating: GREEN; Changed publications to: 27620904, 31164858, 38129107, 28211985, 28600779, 32878022, 21937992, 25125150; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, NDST1-related intellectual disability with or without seizures
DDG2P v4.10 NALCN Achchuthan Shanmugasundram edited their review of gene: NALCN: Added comment: The DDG2P confidence category for the disease CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, OMIM:616266 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 25683120). The DDG2P confidence category for the disease NALCN-related temporal lobe epilepsy is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 37046053). The DDG2P confidence category for the disease HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES, OMIM:615419 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 23749988;24075186).; Changed publications to: 25683120, 23749988, 37046053, 24075186; Changed phenotypes to: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES, OMIM:615419, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, OMIM:616266, NALCN-related temporal lobe epilepsy
DDG2P v4.10 MYH8 Achchuthan Shanmugasundram edited their review of gene: MYH8: Added comment: The DDG2P confidence category for the disease MYH8-related Trismus-pseudocamptodactyly syndrome is strong. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product;altered gene product structure and potential IF (PMID: 18049072;17041932;20949528).; Changed rating: GREEN; Changed publications to: 18049072, 15282353, 28377322, 17041932, 20949528; Changed phenotypes to: CARNEY COMPLEX VARIANT, OMIM:608837, DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300, MYH8-related Trismus-pseudocamptodactyly syndrome
DDG2P v4.10 MYH10 Achchuthan Shanmugasundram edited their review of gene: MYH10: Added comment: The DDG2P confidence category for the disease MYH10-related Multiple congenital anomalies is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID: 35980381;25356899;25003005).; Changed rating: GREEN; Changed publications to: 25356899, 35980381, 25003005
DDG2P v4.10 MTFMT Achchuthan Shanmugasundram reviewed gene: MTFMT: Rating: GREEN; Mode of pathogenicity: ; Publications: 30911575, 23499752, 21907147, 24461907, 32133637; Phenotypes: MTFMT-related mitochondrial disease with regression and lactic acidosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 MAST3 Achchuthan Shanmugasundram reviewed gene: MAST3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 34185323, 35095415; Phenotypes: MAST3-related developmental and epileptic encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 MAP4K4 Achchuthan Shanmugasundram reviewed gene: MAP4K4: Rating: GREEN; Mode of pathogenicity: ; Publications: 36469137, 28518170, 37126546; Phenotypes: MAP4K4-related neurodevelopmental disorder with/without congenital anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 LRP5 Achchuthan Shanmugasundram edited their review of gene: LRP5: Added comment: The DDG2P confidence category for the disease LRP5 - OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME on a spectrum with FEVR with osteopenia, OMIM:259770 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 11719191;15346351;17437160;16929062;18825883;17353424;16679074;20034086). The DDG2P confidence category for the disease LRP5-related osteopetrosis, OMIM:601884 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 14727154;12579474;11741193). The DDG2P confidence category for the disease LRP5-related exudative vitreoretinopathy, OMIM:601813 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID: 9831343;15981244;15346351;9056564;15024691).; Changed publications to: 17437160, 11719191, 14727154, 9831343, 18825883, 16679074, 17353424, 12579474, 15981244, 20034086, 16929062, 11741193, 15346351, 9056564, 15024691; Changed phenotypes to: LRP5-related exudative vitreoretinopathy, OMIM:601813, LRP5 - OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME on a spectrum with FEVR with osteopenia, OMIM:259770, HIGH BONE MASS TRAIT, OMIM:601884, ENDOSTEAL HYPEROSTOSIS WORTH TYPE, OMIM:144750, LRP5-related osteopetrosis, OMIM:601884, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OMIM:259770, OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1, OMIM:607634, VITREORETINOPATHY EXUDATIVE TYPE 4, OMIM:601813
DDG2P v4.10 LMOD2 Achchuthan Shanmugasundram reviewed gene: LMOD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35188328, 34888509, 35082396, 31517052, 37296576; Phenotypes: LMOD2-related infantile dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 LHX2 Achchuthan Shanmugasundram reviewed gene: LHX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 37057675; Phenotypes: LHX2-related neurodevelopmental disorder with or without microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 LEF1 Achchuthan Shanmugasundram reviewed gene: LEF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35583550; Phenotypes: LEF1-related ectodermal dysplasia and limb malformation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 KLHL7 Achchuthan Shanmugasundram edited their review of gene: KLHL7: Added comment: The DDG2P confidence category for the disease KLHL7-related PERCHING syndrome (developmental delay, dysmorphism, feeding and respiratory difficulties, hypotonia, and joint contractures) is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure;uncertain (PMID: 38333279;30300710;27392078;30142437;35699517;29074562;37076692;35670385;30997404;31953236).; Changed publications to: 35670385, 30997404, 31953236, 35699517, 30142437, 30300710, 37076692, 29074562, 38333279, 27392078; Changed phenotypes to: KLHL7-related PERCHING syndrome (developmental delay, dysmorphism, feeding and respiratory difficulties, hypotonia, and joint contractures), Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa, Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa)
DDG2P v4.10 KLHL20 Achchuthan Shanmugasundram reviewed gene: KLHL20: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36214804; Phenotypes: KLHL20-related developmental disorder with seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 KCTD7 Achchuthan Shanmugasundram edited their review of gene: KCTD7: Added comment: The DDG2P confidence category for the disease KCTD7-related progressive myoclonic epilepsy, OMIM:611726 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 22693283;17455289;32412666;38231304;35921411;30295347;22748208;30500434).; Changed publications to: 30295347, 30500434, 17455289, 22748208, 35921411, 32412666, 38231304, 22693283; Changed phenotypes to: NEURONAL CEROID LIPOFUSCINOSIS, KCTD7-related progressive myoclonic epilepsy, OMIM:611726, PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3, OMIM:611726
DDG2P v4.10 KCNN2 Achchuthan Shanmugasundram reviewed gene: KCNN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33242881; Phenotypes: KCNN2-related neurodevelopmental disorder with or without movement disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 KCNK3 Achchuthan Shanmugasundram edited their review of gene: KCNK3: Added comment: The DDG2P confidence category for the disease KCNK3-associated developmental delay with sleep apnea is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 36195757;33057194).; Changed publications to: 36195757, 33057194; Changed phenotypes to: KCNK3-related developmental disorder (monoallelic), KCNK3-associated developmental delay with sleep apnea
DDG2P v4.10 KCND2 Achchuthan Shanmugasundram reviewed gene: KCND2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 34245260, 24501278; Phenotypes: KCND2-related neurodevelopmental disorder with or without seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 INTS11 Achchuthan Shanmugasundram reviewed gene: INTS11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37054711, 37980560; Phenotypes: INTS11-related neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 INTS1 Achchuthan Shanmugasundram reviewed gene: INTS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28542170, 30622326, 31428919; Phenotypes: INTS1-related neurodevelopmental disorder with cataracts, hypotonia and gait abnormality; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 IER3IP1 Achchuthan Shanmugasundram reviewed gene: IER3IP1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36416459, 22991235, 24138066, 21835305, 28711742; Phenotypes: IER3IP1-related microcephaly with simplified gyral pattern, epilepsy, and neonatal diabetes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 HMGCR Achchuthan Shanmugasundram reviewed gene: HMGCR: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37167966, 36745799; Phenotypes: HMGCR-related limb-girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 HECTD4 Achchuthan Shanmugasundram reviewed gene: HECTD4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36401616; Phenotypes: HECTD4-related neurodevelopmental disorder with seizures, hypotonia, spasticity, and agenesis of the corpus callosum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 HCCS Achchuthan Shanmugasundram edited their review of gene: HCCS: Added comment: The DDG2P confidence category for the disease HCCS-related linear skin defects with microphthalmia, OMIM:309801 is moderate. The allelic requirement and mutation consequence are monoallelic_X_het and absent gene product (PMID: 17893649;24735900;17033964).; Changed publications to: 17893649, 24735900, 17033964; Changed phenotypes to: HCCS-related linear skin defects with microphthalmia, OMIM:309801, MICROPHTHALMIA SYNDROMIC TYPE 7, OMIM:309801
DDG2P v4.10 GTPBP1 Achchuthan Shanmugasundram reviewed gene: GTPBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 38118446; Phenotypes: GTPBP1-related neurodevelopmental disorder with severe-profound intellectual disability, spasticity and ectodermal features.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 GJA1 Achchuthan Shanmugasundram edited their review of gene: GJA1: Added comment: The DDG2P confidence category for the disease HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 11470490). The DDG2P confidence category for the disease HALLERMANN-STREIFF SYNDROME, OMIM:234100 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID: 14974090;14981729). The DDG2P confidence category for the disease GJA1-related oculodentodigital dysplasia, OMIM:164200 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 15512999;16816024;14974090;20597923;12457340;36396593;23606748;29902798). The DDG2P confidence category for the disease GJA1-related oculodentodigital dysplasia, OMIM:164200 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 18425059;7815444;17256797;19338053;12457340;2309863;30204976;28319210;19808103;31347275; 27241686;24434540;16378922;28258662;2157843;15637728;25327171;19847613;28491627;22214631;4209752;16219735;18412120; 34035645;30610049;25976645;16222672;18161618;15551259;21670345;23550541;19638688;30628995;24508941;18946008; 26087145;15108203;29653008;26444782;14729836;16709485).; Changed publications to: 18412120, 26444782, 17256797, 31347275, 19638688, 23606748, 2309863, 29902798, 16378922, 11470490, 30204976, 26087145, 25327171, 15512999, 25976645, 18946008, 20597923, 30610049, 36396593, 4209752, 14729836, 19338053, 34035645, 22214631, 19808103, 14981729, 18161618, 16219735, 28491627, 16816024, 24434540, 2157843, 23550541, 28319210, 24508941, 16222672, 12457340, 7815444, 15108203, 18425059, 28258662, 29653008, 27241686, 21670345, 14974090, 30628995, 16709485, 15637728, 15551259, 19847613; Changed phenotypes to: HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550, HALLERMANN-STREIFF SYNDROME, OMIM:234100, SYNDACTYLY TYPE 3, OMIM:186100, AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850, AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200, GJA1-related oculodentodigital dysplasia, OMIM:164200
DDG2P v4.10 GABRA2 Achchuthan Shanmugasundram reviewed gene: GABRA2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29422393, 29961870, 31032849; Phenotypes: GABRA2-related epileptic encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 FOXP4 Achchuthan Shanmugasundram edited their review of gene: FOXP4: Added comment: The DDG2P confidence category for the disease FOXP4-related Developmental Disorder is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 36301021;33110267).; Changed rating: GREEN; Changed mode of pathogenicity: Other; Changed publications to: 33110267, 36301021
DDG2P v4.10 FOSL2 Achchuthan Shanmugasundram reviewed gene: FOSL2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36197437; Phenotypes: FOSL2-related neurodevelopmental disorder with scalp and enamel defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 FILIP1 Achchuthan Shanmugasundram reviewed gene: FILIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36943452; Phenotypes: FILIP1-related arthrogryposis multiplex congenita with microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 FIBP Achchuthan Shanmugasundram reviewed gene: FIBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 26660953, 38102793, 36919607, 27183861, 37218527, 37876348; Phenotypes: FIBP-related overgrowth syndrome with developmental delay (Thauvin-Robinet-Faivre syndrome); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 FGFR2 Achchuthan Shanmugasundram edited their review of gene: FGFR2: Added comment: The DDG2P confidence category for the disease ANTLEY-BIXLER SYNDROME, OMIM:207410 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 9605588). The DDG2P confidence category for the disease FGFR2-related Pfeiffer syndrome, OMIM:101600 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 10945669;9475591;11556600;11380927;10731087;7719333;10394936;9457499;11807866;9150725). The DDG2P confidence category for the disease CROUZON SYNDROME, OMIM:123500 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 7581378;7987400;9152842;15523492;7874170;8956050;22038757;7607643;7655462;9677057;7773284;10574673;7558045;8528214;17621648). The DDG2P confidence category for the disease APERT SYNDROME, OMIM:101200 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 7719344;8651276;9452027;9002682;9217234;7668257;9973282). The DDG2P confidence category for the disease JACKSON-WEISS SYNDROME, OMIM:123150 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 9385368;7874170). The DDG2P confidence category for the disease BEARE-STEVENSON CUTIS GYRATA SYNDROME, OMIM:123790 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 9545103;12000365;8696350;19610084). The DDG2P confidence category for the disease FGFR2-related lacrimo-auriculo-dento-digital syndrome, OMIM:149730 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure;uncertain.; Changed publications to: 17621648, 12000365, 10394936, 11807866, 9475591, 19610084, 8528214, 9385368, 10574673, 9150725, 10731087, 22038757, 15523492, 9457499, 7668257, 8956050, 7607643, 9002682, 7874170, 8696350, 7558045, 9217234, 8651276, 9605588, 7581378, 9973282, 9452027, 9677057, 7719344, 7719333, 7655462, 9152842, 7987400, 10945669, 9545103, 11380927, 11556600, 7773284; Changed phenotypes to: FGFR2-related lacrimo-auriculo-dento-digital syndrome, OMIM:149730, FGFR2-related Pfeiffer syndrome, OMIM:101600, LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, OMIM:149730, ANTLEY-BIXLER SYNDROME, OMIM:207410, ACROCEPHALOSYNDACTYLY TYPE V, OMIM:101600, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OMIM:123790, CROUZON SYNDROME, OMIM:123500, JACKSON-WEISS SYNDROME, OMIM:123150, APERT SYNDROME, OMIM:101200
DDG2P v4.10 FDXR Achchuthan Shanmugasundram reviewed gene: FDXR: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30250212, 28965846, 33938912, 32499495; Phenotypes: FDXR-related optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 FBN1 Achchuthan Shanmugasundram edited their review of gene: FBN1: Added comment: The DDG2P confidence category for the disease FBN1-related Marfan syndrome, OMIM:154700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure (PMID: 12161601;11391655;11710961;18412115;15287423;15032979;17679947;8430317; 8004112;7945217;11175294;12402346;17663468;17189636;15054843;10090884;10766875;23103230;23023332;14695540;17366579; 12413333;11524736;10694921;11453977;1569206;8863159;12446365;8136837;17657824;7633409;16930007;7911051;20979188;8281141; 17701892;14586646;8882780;8428751;10756346;37684520;1631074;8504310;7611299;10364683;7762551;21594993;1301946;7915876;8040326; 8071963;8101042;16617303;10189089;12890380;11700157;16220557;9101298;8406497;10441700;12203992;10425041;7870075;17492313; 21594992;17568394;12915484;11702223;9837823;35058154;15241795;16222657;9241263;20082464;7622614;10721679;10441597; 15161620;11139245;16333834;9452085;1852208). The DDG2P confidence category for the disease FBN1-related Weill-Marchesani syndrome, OMIM:608328 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 12525539;22242013;25142510;28696036;23897642;8406497;37734846;34075901). The DDG2P confidence category for the disease FBN1-related Marfan syndrome, OMIM:154700 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 8428751;1631074;8504310;7611299;21594993;7762551;24698609;18412115;15287423;15032979;1301946;31950671;8040326;8430317; 8101042;28636274;27582083;9101298;8406497;20886638;11175294;7977366;10766875;17492313;21594992;17568394;17366579; 11702223;19059503;33436942;9837823;23278365;1569206;8136837;9241263;7633409;20082464;10441597;7911051;20979188; 8281141;8880577;16333834;1852208).; Changed publications to: 10189089, 17568394, 10441700, 8882780, 17679947, 8101042, 7911051, 8430317, 23897642, 18412115, 20979188, 11710961, 8071963, 15161620, 24698609, 28696036, 12203992, 10756346, 16617303, 27582083, 7611299, 37684520, 16222657, 16220557, 37734846, 34075901, 25142510, 15032979, 20082464, 14586646, 22242013, 15287423, 17657824, 17701892, 10090884, 11453977, 31950671, 19059503, 10721679, 9101298, 12890380, 11700157, 10441597, 7945217, 20886638, 7633409, 17492313, 12413333, 11702223, 12446365, 1301946, 1569206, 17366579, 7622614, 8281141, 10694921, 35058154, 7870075, 33436942, 8040326, 11139245, 21594992, 12525539, 11524736, 23278365, 17189636, 12161601, 8880577, 8406497, 23103230, 11175294, 10766875, 16930007, 21594993, 11391655, 8136837, 23023332, 12915484, 7915876, 15241795, 7977366, 8428751, 7762551, 15054843, 1631074, 8863159, 8504310, 14695540, 10364683, 17663468, 28636274, 10425041, 8004112, 9241263, 12402346, 9452085, 1852208, 16333834, 9837823; Changed phenotypes to: Marfan Syndrome, biallelic, OMIM:154700, FBN1-related Marfan syndrome, OMIM:154700, MARFAN SYNDROME, OMIM:154700, WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328, FBN1-related Weill-Marchesani syndrome, OMIM:608328, SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212
DDG2P v4.10 EZH1 Achchuthan Shanmugasundram reviewed gene: EZH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 37433783, 38814056; Phenotypes: EZH1-related neurodevelopmental disorder; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v4.10 ESAM Achchuthan Shanmugasundram reviewed gene: ESAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 36996813; Phenotypes: ESAM-related neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 ERI1 Achchuthan Shanmugasundram reviewed gene: ERI1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36208065, 37352860, 28488351; Phenotypes: ERI1-related brachydactyly and mild neurodevelopmental delay, ERI1-related severe growth restriction and skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 EIF4A2 Achchuthan Shanmugasundram reviewed gene: EIF4A2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36528028; Phenotypes: Autosomal recessive EIF4A2-related neurodevelopmental disorder, Autosomal dominant EIF4A2-related neurodevelopmental disorder with hypotonia and epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 DOT1L Achchuthan Shanmugasundram reviewed gene: DOT1L: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37827158; Phenotypes: DOT1L-related neurodevelopmental disorder with intracranial anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 DNA2 Achchuthan Shanmugasundram edited their review of gene: DNA2: Added comment: The DDG2P confidence category for the disease DNA2-related microcephalic primordial dwarfism with or without poikiloderma and cataracts, OMIM:615807 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 24389050;37055165;31045292).; Changed rating: GREEN; Changed publications to: 31045292, 24389050, 37055165; Changed phenotypes to: PRIMORDIAL DWARFISM SECKEL SYNDROME 8, OMIM:615807, DNA2-related microcephalic primordial dwarfism with or without poikiloderma and cataracts, OMIM:615807
DDG2P v4.10 DHX9 Achchuthan Shanmugasundram reviewed gene: DHX9: Rating: GREEN; Mode of pathogenicity: ; Publications: 37467750; Phenotypes: DHX9-related neurodevelopmental disorder and Charcot-Marie-Tooth disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 CWF19L1 Achchuthan Shanmugasundram reviewed gene: CWF19L1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25361784, 33012273, 27016154, 26197978, 36453471; Phenotypes: CWF19L1-related developmental delay with epilepsy, progressive ataxia and cerebellar atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 CTR9 Achchuthan Shanmugasundram reviewed gene: CTR9: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35468861, 35717577, 35499524; Phenotypes: CTR9-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 CRIPT Achchuthan Shanmugasundram edited their review of gene: CRIPT: Added comment: The DDG2P confidence category for the disease CRIPT-related short stature, microcephaly, poikiloderma and skeletal abnormalities (Rothmund Thomson like), OMIM:615789 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 24389050;27250922;36630262;37013901).; Changed rating: GREEN; Changed publications to: 36630262, 24389050, 37013901, 27250922; Changed phenotypes to: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, OMIM:615789, CRIPT-related short stature, microcephaly, poikiloderma and skeletal abnormalities (Rothmund Thomson like), OMIM:615789
DDG2P v4.10 CRELD1 Achchuthan Shanmugasundram edited their review of gene: CRELD1: Added comment: The DDG2P confidence category for the disease CRELD1-related neurodevelopmental disorder with hypotonia and seizures is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure;decreased gene product level (PMID: 37947183). The DDG2P confidence category for the disease HETEROTAXY SYNDROME, OMIM:207574 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure.; Changed publications to: 37947183; Changed phenotypes to: CRELD1-related neurodevelopmental disorder with hypotonia and seizures, HETEROTAXY SYNDROME, OMIM:207574; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v4.10 CNOT9 Achchuthan Shanmugasundram reviewed gene: CNOT9: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37092538; Phenotypes: CNOT9-related developmental disorder with seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 CNOT2 Achchuthan Shanmugasundram reviewed gene: CNOT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36224108, 31512373, 21299754, 31145527; Phenotypes: CNOT2-related neurodevelopmental disorder with hypotonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 CCDC88A Achchuthan Shanmugasundram edited their review of gene: CCDC88A: Added comment: The DDG2P confidence category for the disease CCDC88A-related PEHO-like syndrome with neuronal migration disorder, seizures and microcephaly, OMIM:617507 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;decreased gene product level (PMID: 37798908;30392057;26917597).; Changed rating: GREEN; Changed publications to: 37798908, 30392057, 26917597; Changed phenotypes to: PEHO-like syndrome, OMIM:617507, CCDC88A-related PEHO-like syndrome with neuronal migration disorder, seizures and microcephaly, OMIM:617507
DDG2P v4.10 CBX1 Achchuthan Shanmugasundram reviewed gene: CBX1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37087635; Phenotypes: CBX1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 CBFB Achchuthan Shanmugasundram reviewed gene: CBFB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36241386; Phenotypes: CBFB-related cleidocranial dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 CASP2 Achchuthan Shanmugasundram edited their review of gene: CASP2: Added comment: The DDG2P confidence category for the disease CASP2-related developmental disorder with lissencephaly is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 37880421;21937992).; Changed rating: GREEN; Changed publications to: 21937992, 37880421; Changed phenotypes to: CASP2-related developmental disorder with lissencephaly, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER
DDG2P v4.10 CAMTA1 Achchuthan Shanmugasundram edited their review of gene: CAMTA1: Added comment: The DDG2P confidence category for the disease CAMTA1-related cerebellar dysfunction with variable cognitive and behavioral abnormalities, OMIM:614756 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID: 22693284;38044714).; Changed publications to: 22693284, 38044714; Changed phenotypes to: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:614756, CAMTA1-related cerebellar dysfunction with variable cognitive and behavioral abnormalities, OMIM:614756
DDG2P v4.10 CAMK2D Achchuthan Shanmugasundram reviewed gene: CAMK2D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38272033; Phenotypes: CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.10 C4orf26 Achchuthan Shanmugasundram edited their review of gene: C4orf26: Added comment: The DDG2P confidence category for the disease ODAPH-related Amyelogenesis Imperfecta, OMIM:614832 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 22901946).; Changed phenotypes to: ODAPH-related Amyelogenesis Imperfecta, OMIM:614832, AMYELOGENESIS, OMIM:614832
DDG2P v4.10 BORCS8 Achchuthan Shanmugasundram reviewed gene: BORCS8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38128568; Phenotypes: BORCS8-related early-infantile neurological disorder with severe intellectual disability, hypotonia and congenital heart disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 ARL6 Achchuthan Shanmugasundram edited their review of gene: ARL6: Added comment: The DDG2P confidence category for the disease BARDET-BIEDL SYNDROME TYPE 3, OMIM:600151 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 15258860;16606853;10973238;15314642;9714014;11567139;8298649;12118255;20618352; 18203199;18327255;15137946;20805367;17160889;12524598;16582908;11381270;20671153;12016587; 14520415;7987310;7711739;12567324;21937992;16308660;12837689;10973251;22353939;16380913). The DDG2P confidence category for the disease ARL6-related retinal dystrophy, OMIM:613575 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 31736247;28130426;19956407).; Changed publications to: 17160889, 14520415, 16380913, 20805367, 15258860, 12118255, 18327255, 22353939, 21937992, 8298649, 11381270, 15137946, 16606853, 20671153, 16582908, 15314642, 7987310, 10973238, 12567324, 10973251, 16308660, 12837689, 20618352, 9714014, 12524598, 7711739, 19956407, 31736247, 12016587, 28130426, 18203199, 11567139; Changed phenotypes to: RETINITIS PIGMENTOSA TYPE 55, OMIM:613575, BARDET-BIEDL SYNDROME TYPE 3, OMIM:600151, ARL6-related retinal dystrophy, OMIM:613575
DDG2P v4.10 AMFR Achchuthan Shanmugasundram reviewed gene: AMFR: Rating: GREEN; Mode of pathogenicity: ; Publications: 37119330; Phenotypes: AMFR-related spastic paraplegia with/without neurodevelopmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.10 ACTC1 Achchuthan Shanmugasundram reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38278647, 37457373; Phenotypes: ACTC1-related distal arthrogryposis with congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v4.9 ZFHX3 Achchuthan Shanmugasundram Source Expert Review Green was added to ZFHX3.
Mode of pathogenicity for gene ZFHX3 was changed from to Other
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v4.9 ZBTB47 Achchuthan Shanmugasundram gene: ZBTB47 was added
gene: ZBTB47 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ZBTB47 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZBTB47 were set to 38327012
Phenotypes for gene: ZBTB47 were set to ZBTB47-related developmental delay, intellectual disability, hypotonia and seizures
Mode of pathogenicity for gene: ZBTB47 was set to Other
DDG2P v4.9 ZBTB11 Achchuthan Shanmugasundram gene: ZBTB11 was added
gene: ZBTB11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ZBTB11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZBTB11 were set to 31130284; 35104841; 36068688; 29893856; 38899514
Phenotypes for gene: ZBTB11 were set to ZBTB11-related neurodevelopmental disorder with or without cataracts and movement disorder
Mode of pathogenicity for gene: ZBTB11 was set to Other
DDG2P v4.9 YWHAZ Achchuthan Shanmugasundram gene: YWHAZ was added
gene: YWHAZ was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: YWHAZ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: YWHAZ were set to 36001342
Phenotypes for gene: YWHAZ were set to YWHAZ-related developmental delay with simplified gyral pattern
Mode of pathogenicity for gene: YWHAZ was set to Other
DDG2P v4.9 UBE3C Achchuthan Shanmugasundram gene: UBE3C was added
gene: UBE3C was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: UBE3C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBE3C were set to 36401616
Phenotypes for gene: UBE3C were set to UBE3C-related neurodevelopmental disorder with absent speech and movement and behavioural abnormalities
DDG2P v4.9 TSPEAR Achchuthan Shanmugasundram gene: TSPEAR was added
gene: TSPEAR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TSPEAR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSPEAR were set to 34042254; 27736875; 37009414
Phenotypes for gene: TSPEAR were set to TSPEAR-related ectodermal dysplasia and tooth agenesis
DDG2P v4.9 TOR1A Achchuthan Shanmugasundram gene: TOR1A was added
gene: TOR1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TOR1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOR1A were set to 30244176; 33175450; 33832800; 28516161; 36757831
Phenotypes for gene: TOR1A were set to TOR1A-associated arthrogryposis multiplex congenita (AR)
DDG2P v4.9 TMEM63B Achchuthan Shanmugasundram gene: TMEM63B was added
gene: TMEM63B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TMEM63B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TMEM63B were set to 37421948
Phenotypes for gene: TMEM63B were set to TMEM63B-related developmental and epileptic encephalopathy with anaemia
Mode of pathogenicity for gene: TMEM63B was set to Other
DDG2P v4.9 TDP2 Achchuthan Shanmugasundram gene: TDP2 was added
gene: TDP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TDP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TDP2 were set to 34606976; 31410782; 32651480; 30109272; 24658003
Phenotypes for gene: TDP2 were set to TDP2-related spinocerebellar ataxia with seizures and developmental delay
DDG2P v4.9 TBC1D32 Achchuthan Shanmugasundram gene: TBC1D32 was added
gene: TBC1D32 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D32 were set to 31585110; 32573025; 36826837; 32060556; 24285566
Phenotypes for gene: TBC1D32 were set to TBC1D32-related ciliopathy
DDG2P v4.9 STX1A Achchuthan Shanmugasundram gene: STX1A was added
gene: STX1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: STX1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: STX1A were set to 36564538
Phenotypes for gene: STX1A were set to STX1A-associated neurodevelopmental disorder with epilepsy; STX1A-associated neurodevelopmental disorder without epilepsy
DDG2P v4.9 SNAPC4 Achchuthan Shanmugasundram gene: SNAPC4 was added
gene: SNAPC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SNAPC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNAPC4 were set to 22222761; 36965478
Phenotypes for gene: SNAPC4 were set to SNAPC4-related neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, OMIM:620515
DDG2P v4.9 SLC18A2 Achchuthan Shanmugasundram gene: SLC18A2 was added
gene: SLC18A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC18A2 were set to 23363473; 36318270
Phenotypes for gene: SLC18A2 were set to SLC18A2-related neurotransmitter disorder with dystonia and oculogyric crisis
DDG2P v4.9 SART3 Achchuthan Shanmugasundram gene: SART3 was added
gene: SART3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SART3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SART3 were set to 37296101
Phenotypes for gene: SART3 were set to SART3-related neurodevelopmental disorder with 46,XY gonadal dysgenesis (INDYGON)
Mode of pathogenicity for gene: SART3 was set to Other
DDG2P v4.9 RRAGC Achchuthan Shanmugasundram gene: RRAGC was added
gene: RRAGC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RRAGC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RRAGC were set to 37057673; 27234373
Phenotypes for gene: RRAGC were set to RRAGC-related congenital dilated cardiomyopathy with hyperlactatemia, deranged liver function and cataracts
Mode of pathogenicity for gene: RRAGC was set to Other
DDG2P v4.9 RPH3A Achchuthan Shanmugasundram gene: RPH3A was added
gene: RPH3A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: RPH3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPH3A were set to 37403762
Phenotypes for gene: RPH3A were set to RPH3A-related neurodevelopmental disorder
Mode of pathogenicity for gene: RPH3A was set to Other
DDG2P v4.9 RNU4-2 Achchuthan Shanmugasundram gene: RNU4-2 was added
gene: RNU4-2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RNU4-2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RNU4-2 were set to 38821540; 38991538
Phenotypes for gene: RNU4-2 were set to RNU4-2 related neurodevelopmental disorder with microcephaly and seizures
Mode of pathogenicity for gene: RNU4-2 was set to Other
DDG2P v4.9 RNH1 Achchuthan Shanmugasundram gene: RNH1 was added
gene: RNH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RNH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNH1 were set to 36935417; 37191094
Phenotypes for gene: RNH1 were set to RNH1-related susceptibility to infection-related encephalopathy
DDG2P v4.9 RABGAP1 Achchuthan Shanmugasundram gene: RABGAP1 was added
gene: RABGAP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RABGAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RABGAP1 were set to 36083289
Phenotypes for gene: RABGAP1 were set to RABGAP1-related neurodevelopmental disorder with microcephaly and sensorineural hearing loss
DDG2P v4.9 RAB34 Achchuthan Shanmugasundram gene: RAB34 was added
gene: RAB34 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAB34 were set to 37619988; 37384395
Phenotypes for gene: RAB34 were set to RAB34-related orofaciodigital syndrome
Mode of pathogenicity for gene: RAB34 was set to Other
DDG2P v4.9 PSMC3 Achchuthan Shanmugasundram gene: PSMC3 was added
gene: PSMC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PSMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PSMC3 were set to 37256937
Phenotypes for gene: PSMC3 were set to PSMC3-related neurodevelopmental disorder
Mode of pathogenicity for gene: PSMC3 was set to Other
DDG2P v4.9 PRRX1 Achchuthan Shanmugasundram Source Expert Review Green was added to PRRX1.
Mode of inheritance for gene PRRX1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v4.9 PPFIA3 Achchuthan Shanmugasundram gene: PPFIA3 was added
gene: PPFIA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PPFIA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPFIA3 were set to 38181735
Phenotypes for gene: PPFIA3 were set to PPFIA3-related neurodevelopmental disorder
Mode of pathogenicity for gene: PPFIA3 was set to Other
DDG2P v4.9 PHF5A Achchuthan Shanmugasundram gene: PHF5A was added
gene: PHF5A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PHF5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PHF5A were set to 37422718; 33811463
Phenotypes for gene: PHF5A were set to PHF5A-related neurodevelopmental disorder with congenital malformations
Mode of pathogenicity for gene: PHF5A was set to Other
DDG2P v4.9 PABPC1 Achchuthan Shanmugasundram gene: PABPC1 was added
gene: PABPC1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: PABPC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PABPC1 were set to 35511136
Phenotypes for gene: PABPC1 were set to PABPC1-related developmental delay
Mode of pathogenicity for gene: PABPC1 was set to Other
DDG2P v4.9 ODC1 Achchuthan Shanmugasundram Mode of pathogenicity for gene ODC1 was changed from to Other
DDG2P v4.9 NOVA2 Achchuthan Shanmugasundram Mode of pathogenicity for gene NOVA2 was changed from to Other
DDG2P v4.9 NLGN4X Achchuthan Shanmugasundram Source Expert Review Green was added to NLGN4X.
Mode of inheritance for gene NLGN4X was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v4.9 MTFMT Achchuthan Shanmugasundram gene: MTFMT was added
gene: MTFMT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTFMT were set to 30911575; 23499752; 21907147; 24461907; 32133637
Phenotypes for gene: MTFMT were set to MTFMT-related mitochondrial disease with regression and lactic acidosis
DDG2P v4.9 MKL2 Achchuthan Shanmugasundram gene: MKL2 was added
gene: MKL2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: MKL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MKL2 were set to 37013900
Phenotypes for gene: MKL2 were set to MRTFB-related neurodevelopmental disorder
Mode of pathogenicity for gene: MKL2 was set to Other
DDG2P v4.9 MAST3 Achchuthan Shanmugasundram gene: MAST3 was added
gene: MAST3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MAST3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAST3 were set to 34185323; 35095415
Phenotypes for gene: MAST3 were set to MAST3-related developmental and epileptic encephalopathy
Mode of pathogenicity for gene: MAST3 was set to Other
DDG2P v4.9 MAP4K4 Achchuthan Shanmugasundram Source Expert Review Green was added to MAP4K4.
Source DD-Gene2Phenotype was added to MAP4K4.
Mode of inheritance for gene MAP4K4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes MAP4K4-related neurodevelopmental disorder with/without congenital anomalies for gene: MAP4K4
Publications for gene: MAP4K4 were updated from PMID: 37126546 to 36469137; 28518170; PMID: 37126546; 37126546
Rating Changed from No List (delete) to Green List (high evidence)
DDG2P v4.9 LSM11 Achchuthan Shanmugasundram gene: LSM11 was added
gene: LSM11 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: LSM11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSM11 were set to 33230297
Phenotypes for gene: LSM11 were set to LSM11-related Aicardi-Goutieres syndrome
Mode of pathogenicity for gene: LSM11 was set to Other
DDG2P v4.9 LMOD2 Achchuthan Shanmugasundram gene: LMOD2 was added
gene: LMOD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LMOD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMOD2 were set to 35188328; 34888509; 35082396; 31517052; 37296576
Phenotypes for gene: LMOD2 were set to LMOD2-related infantile dilated cardiomyopathy
DDG2P v4.9 LHX2 Achchuthan Shanmugasundram gene: LHX2 was added
gene: LHX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LHX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LHX2 were set to 37057675
Phenotypes for gene: LHX2 were set to LHX2-related neurodevelopmental disorder with or without microcephaly
DDG2P v4.9 KLHL20 Achchuthan Shanmugasundram gene: KLHL20 was added
gene: KLHL20 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KLHL20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KLHL20 were set to 36214804
Phenotypes for gene: KLHL20 were set to KLHL20-related developmental disorder with seizures
Mode of pathogenicity for gene: KLHL20 was set to Other
DDG2P v4.9 KCNN2 Achchuthan Shanmugasundram gene: KCNN2 was added
gene: KCNN2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KCNN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNN2 were set to 33242881
Phenotypes for gene: KCNN2 were set to KCNN2-related neurodevelopmental disorder with or without movement disorder
DDG2P v4.9 KCND2 Achchuthan Shanmugasundram gene: KCND2 was added
gene: KCND2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCND2 were set to 34245260; 24501278
Phenotypes for gene: KCND2 were set to KCND2-related neurodevelopmental disorder with or without seizures
Mode of pathogenicity for gene: KCND2 was set to Other
DDG2P v4.9 INTS11 Achchuthan Shanmugasundram gene: INTS11 was added
gene: INTS11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: INTS11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTS11 were set to 37054711; 37980560
Phenotypes for gene: INTS11 were set to INTS11-related neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428
Mode of pathogenicity for gene: INTS11 was set to Other
DDG2P v4.9 INTS1 Achchuthan Shanmugasundram gene: INTS1 was added
gene: INTS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: INTS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTS1 were set to 28542170; 30622326; 31428919
Phenotypes for gene: INTS1 were set to INTS1-related neurodevelopmental disorder with cataracts, hypotonia and gait abnormality
DDG2P v4.9 IKZF2 Achchuthan Shanmugasundram gene: IKZF2 was added
gene: IKZF2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: IKZF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IKZF2 were set to 37316189
Phenotypes for gene: IKZF2 were set to IKZF2-related ICHAD syndrome
Mode of pathogenicity for gene: IKZF2 was set to Other
DDG2P v4.9 IER3IP1 Achchuthan Shanmugasundram gene: IER3IP1 was added
gene: IER3IP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IER3IP1 were set to 36416459; 22991235; 24138066; 21835305; 28711742
Phenotypes for gene: IER3IP1 were set to IER3IP1-related microcephaly with simplified gyral pattern, epilepsy, and neonatal diabetes
Mode of pathogenicity for gene: IER3IP1 was set to Other
DDG2P v4.9 HMGCR Achchuthan Shanmugasundram gene: HMGCR was added
gene: HMGCR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HMGCR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMGCR were set to 37167966; 36745799
Phenotypes for gene: HMGCR were set to HMGCR-related limb-girdle muscular dystrophy
Mode of pathogenicity for gene: HMGCR was set to Other
DDG2P v4.9 HECTD4 Achchuthan Shanmugasundram gene: HECTD4 was added
gene: HECTD4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HECTD4 were set to 36401616
Phenotypes for gene: HECTD4 were set to HECTD4-related neurodevelopmental disorder with seizures, hypotonia, spasticity, and agenesis of the corpus callosum
Mode of pathogenicity for gene: HECTD4 was set to Other
DDG2P v4.9 GTPBP1 Achchuthan Shanmugasundram gene: GTPBP1 was added
gene: GTPBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTPBP1 were set to 38118446
Phenotypes for gene: GTPBP1 were set to GTPBP1-related neurodevelopmental disorder with severe-profound intellectual disability, spasticity and ectodermal features.
DDG2P v4.9 GABRA2 Achchuthan Shanmugasundram gene: GABRA2 was added
gene: GABRA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GABRA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GABRA2 were set to 29422393; 29961870; 31032849
Phenotypes for gene: GABRA2 were set to GABRA2-related epileptic encephalopathy
Mode of pathogenicity for gene: GABRA2 was set to Other
DDG2P v4.9 FOXP4 Achchuthan Shanmugasundram Source Expert Review Green was added to FOXP4.
Mode of pathogenicity for gene FOXP4 was changed from to Other
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v4.9 FOSL2 Achchuthan Shanmugasundram gene: FOSL2 was added
gene: FOSL2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOSL2 were set to 36197437
Phenotypes for gene: FOSL2 were set to FOSL2-related neurodevelopmental disorder with scalp and enamel defects
Mode of pathogenicity for gene: FOSL2 was set to Other
DDG2P v4.9 FILIP1 Achchuthan Shanmugasundram gene: FILIP1 was added
gene: FILIP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FILIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FILIP1 were set to 36943452
Phenotypes for gene: FILIP1 were set to FILIP1-related arthrogryposis multiplex congenita with microcephaly
DDG2P v4.9 FICD Achchuthan Shanmugasundram gene: FICD was added
gene: FICD was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: FICD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FICD were set to 36704923
Phenotypes for gene: FICD were set to FICD-related infancy-onset diabetes and neurodevelopmental disorder
Mode of pathogenicity for gene: FICD was set to Other
DDG2P v4.9 FIBP Achchuthan Shanmugasundram gene: FIBP was added
gene: FIBP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FIBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FIBP were set to 26660953; 38102793; 36919607; 27183861; 37218527; 37876348
Phenotypes for gene: FIBP were set to FIBP-related overgrowth syndrome with developmental delay (Thauvin-Robinet-Faivre syndrome)
DDG2P v4.9 FDXR Achchuthan Shanmugasundram gene: FDXR was added
gene: FDXR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FDXR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FDXR were set to 30250212; 28965846; 33938912; 32499495
Phenotypes for gene: FDXR were set to FDXR-related optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
Mode of pathogenicity for gene: FDXR was set to Other
DDG2P v4.9 EZH1 Achchuthan Shanmugasundram gene: EZH1 was added
gene: EZH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EZH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: EZH1 were set to 37433783; 38814056
Phenotypes for gene: EZH1 were set to EZH1-related neurodevelopmental disorder
DDG2P v4.9 ESAM Achchuthan Shanmugasundram gene: ESAM was added
gene: ESAM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ESAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ESAM were set to 36996813
Phenotypes for gene: ESAM were set to ESAM-related neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
DDG2P v4.9 ERI1 Achchuthan Shanmugasundram gene: ERI1 was added
gene: ERI1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ERI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERI1 were set to 36208065; 37352860; 28488351
Phenotypes for gene: ERI1 were set to ERI1-related brachydactyly and mild neurodevelopmental delay; ERI1-related severe growth restriction and skeletal dysplasia
Mode of pathogenicity for gene: ERI1 was set to Other
DDG2P v4.9 EIF4A2 Achchuthan Shanmugasundram gene: EIF4A2 was added
gene: EIF4A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EIF4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EIF4A2 were set to 36528028
Phenotypes for gene: EIF4A2 were set to Autosomal recessive EIF4A2-related neurodevelopmental disorder; Autosomal dominant EIF4A2-related neurodevelopmental disorder with hypotonia and epilepsy
Mode of pathogenicity for gene: EIF4A2 was set to Other
DDG2P v4.9 DOT1L Achchuthan Shanmugasundram gene: DOT1L was added
gene: DOT1L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DOT1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DOT1L were set to 37827158
Phenotypes for gene: DOT1L were set to DOT1L-related neurodevelopmental disorder with intracranial anomalies
Mode of pathogenicity for gene: DOT1L was set to Other
DDG2P v4.9 DHX9 Achchuthan Shanmugasundram gene: DHX9 was added
gene: DHX9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DHX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DHX9 were set to 37467750
Phenotypes for gene: DHX9 were set to DHX9-related neurodevelopmental disorder and Charcot-Marie-Tooth disease
DDG2P v4.9 DENND5B Achchuthan Shanmugasundram gene: DENND5B was added
gene: DENND5B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DENND5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DENND5B were set to 38387458
Phenotypes for gene: DENND5B were set to DENND5B-related neurodevelopmental disorder with cortical migration and white matter abnormalities
Mode of pathogenicity for gene: DENND5B was set to Other
DDG2P v4.9 CWF19L1 Achchuthan Shanmugasundram gene: CWF19L1 was added
gene: CWF19L1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CWF19L1 were set to 25361784; 33012273; 27016154; 26197978; 36453471
Phenotypes for gene: CWF19L1 were set to CWF19L1-related developmental delay with epilepsy, progressive ataxia and cerebellar atrophy
DDG2P v4.9 CTR9 Achchuthan Shanmugasundram gene: CTR9 was added
gene: CTR9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CTR9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CTR9 were set to 35468861; 35717577; 35499524
Phenotypes for gene: CTR9 were set to CTR9-related neurodevelopmental disorder
Mode of pathogenicity for gene: CTR9 was set to Other
DDG2P v4.9 CNOT9 Achchuthan Shanmugasundram gene: CNOT9 was added
gene: CNOT9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CNOT9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CNOT9 were set to 37092538
Phenotypes for gene: CNOT9 were set to CNOT9-related developmental disorder with seizures
Mode of pathogenicity for gene: CNOT9 was set to Other
DDG2P v4.9 CNOT2 Achchuthan Shanmugasundram gene: CNOT2 was added
gene: CNOT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CNOT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CNOT2 were set to 36224108; 31512373; 21299754; 31145527
Phenotypes for gene: CNOT2 were set to CNOT2-related neurodevelopmental disorder with hypotonia
Mode of pathogenicity for gene: CNOT2 was set to Other
DDG2P v4.9 CBX1 Achchuthan Shanmugasundram gene: CBX1 was added
gene: CBX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CBX1 were set to 37087635
Phenotypes for gene: CBX1 were set to CBX1-related neurodevelopmental disorder
Mode of pathogenicity for gene: CBX1 was set to Other
DDG2P v4.9 CBFB Achchuthan Shanmugasundram gene: CBFB was added
gene: CBFB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CBFB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CBFB were set to 36241386
Phenotypes for gene: CBFB were set to CBFB-related cleidocranial dysplasia
Mode of pathogenicity for gene: CBFB was set to Other
DDG2P v4.9 CAMK2D Achchuthan Shanmugasundram gene: CAMK2D was added
gene: CAMK2D was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CAMK2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CAMK2D were set to 38272033
Phenotypes for gene: CAMK2D were set to CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy
Mode of pathogenicity for gene: CAMK2D was set to Other
DDG2P v4.9 BORCS8 Achchuthan Shanmugasundram gene: BORCS8 was added
gene: BORCS8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BORCS8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BORCS8 were set to 38128568
Phenotypes for gene: BORCS8 were set to BORCS8-related early-infantile neurological disorder with severe intellectual disability, hypotonia and congenital heart disease
Mode of pathogenicity for gene: BORCS8 was set to Other
DDG2P v4.9 ANKRD11 Achchuthan Shanmugasundram Mode of pathogenicity for gene ANKRD11 was changed from to Other
DDG2P v4.9 ANGPT2 Achchuthan Shanmugasundram gene: ANGPT2 was added
gene: ANGPT2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ANGPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANGPT2 were set to 34876502
Phenotypes for gene: ANGPT2 were set to ANGPT2-related non-immune hydrops fetalis
Mode of pathogenicity for gene: ANGPT2 was set to Other
DDG2P v4.9 AMFR Achchuthan Shanmugasundram gene: AMFR was added
gene: AMFR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AMFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMFR were set to 37119330
Phenotypes for gene: AMFR were set to AMFR-related spastic paraplegia with/without neurodevelopmental delay
DDG2P v4.9 ACTC1 Achchuthan Shanmugasundram gene: ACTC1 was added
gene: ACTC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ACTC1 were set to 38278647; 37457373
Phenotypes for gene: ACTC1 were set to ACTC1-related distal arthrogryposis with congenital heart disease
Mode of pathogenicity for gene: ACTC1 was set to Other
DDG2P v4.8 CCNK Jana Jezkova reviewed gene: CCNK: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 37597256, 35063350, 30122539; Phenotypes: developmental delay, intellectual disability, facial dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P v4.8 CRELD1 Dmitrijs Rots reviewed gene: CRELD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 37947183; Phenotypes: ; Mode of inheritance: None
DDG2P v4.6 RRAS Tracy Lester reviewed gene: RRAS: Rating: AMBER; Mode of pathogenicity: None; Publications: 2470537; Phenotypes: Noonan-like; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
DDG2P v4.5 AFF2 Sarah Leigh edited their review of gene: AFF2: Added comment: Intellectual developmental disorder, X-linked 109 (OMIM:3095480, is also associated with deletions of AFF2. Stettner et al. (PMID: 21739600) describe 2 brothers with OMIM:3095480, who have a 121 to 145-kb intragenic deletion within AFF2, while Sahoo et al (PMID: 22065534) report two unrelated males with OMIM:3095480; Patient 1 has a 240 kb intragenic deletion resulting the loss of exons 2-4 of AFF2 and Patient 2 has a 499 kb deletion that removes the exons 1-2.; Changed publications to: 21739600, 22065534
DDG2P v4.4 AFF2 Sarah Leigh reviewed gene: AFF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8334699, 8023854, 21739600, 9299237, 11171404, 11923441, 19136466, 2356291; Phenotypes: ; Mode of inheritance: None
DDG2P v4.3 CASP2 Arina Puzriakova Phenotypes for gene: CASP2 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, OMIM:620653
DDG2P v4.2 SPTBN4 Arina Puzriakova Phenotypes for gene: SPTBN4 were changed from NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS, OMIM:617519 to Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519
DDG2P v3.89 IGF1 Arina Puzriakova Phenotypes for gene: IGF1 were changed from INSULIN-LIKE GROWTH FACTOR I DEFICIENCY 608747 to Insulin-like growth factor I deficiency, OMIM:608747
DDG2P v3.86 ASCC3 Arina Puzriakova Added comment: Comment on phenotypes: Gene-checked tag removed as this gene now has a relevant phenotype listed in OMIM (Intellectual developmental disorder, autosomal recessive 81, OMIM:620700)
DDG2P v3.85 FZD5 Arina Puzriakova Added comment: Comment on phenotypes: Gene-checked tag removed as this gene now has a relevant phenotype listed in OMIM (Microphthalmia/coloboma 11, OMIM:620731)
DDG2P v3.85 FZD5 Arina Puzriakova Phenotypes for gene: FZD5 were changed from Autosomal Dominant Coloboma to Microphthalmia/coloboma 11, OMIM:620731
DDG2P v3.84 SLC32A1 Arina Puzriakova Added comment: Comment on phenotypes: Gene-checked tag removed as this gene now has a relevant phenotype listed in OMIM (Developmental and epileptic encephalopathy 114, OMIM:620774)
DDG2P v3.84 SLC32A1 Arina Puzriakova Phenotypes for gene: SLC32A1 were changed from SLC32A1-associated developmental and epileptic encephalopathy to Developmental and epileptic encephalopathy 114, OMIM:620774
DDG2P v3.83 BRD4 Arina Puzriakova Added comment: Comment on phenotypes: Gene-checked tag removed as this gene now has a phenotype listed in OMIM (Cornelia de Lange syndrome 6, OMIM:620568)
DDG2P v3.82 CAPRIN1 Arina Puzriakova Added comment: Comment on phenotypes: Gene-checked tag removed as this gene now has a relevant phenotype listed in OMIM (Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636)
DDG2P v3.82 CAPRIN1 Arina Puzriakova Phenotypes for gene: CAPRIN1 were changed from Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636 to Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636
DDG2P v3.81 CAPRIN1 Arina Puzriakova Phenotypes for gene: CAPRIN1 were changed from AUTISM OR INTELLECTUAL DISABILITY to Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636
DDG2P v3.76 KCNH5 Eleanor Williams Phenotypes for gene: KCNH5 were changed from INFANTILE EPILEPTIC ENCEPHALOPATHY to Developmental and epileptic encephalopathy 112, OMIM:620537
DDG2P v3.73 ZFYVE19 Achchuthan Shanmugasundram commented on gene: ZFYVE19: The OMIM entry for this gene is OMIM:619635, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
DDG2P v3.73 TMEM251 Achchuthan Shanmugasundram commented on gene: TMEM251: The OMIM entry for this gene is OMIM:619332, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
DDG2P v3.73 TMEM163 Achchuthan Shanmugasundram commented on gene: TMEM163: The OMIM entry for this gene is OMIM:618978, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
DDG2P v3.73 MMGT1 Achchuthan Shanmugasundram commented on gene: MMGT1: The OMIM entry for this gene is OMIM:301098, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
DDG2P v3.73 GREB1L Achchuthan Shanmugasundram Deleted their comment
DDG2P v3.73 GREB1L Achchuthan Shanmugasundram commented on gene: GREB1L: The OMIM entry for this gene is OMIM:617782, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
DDG2P v3.73 GREB1L Achchuthan Shanmugasundram commented on gene: GREB1L: The OMIM entry for this gene is OMIM:617782, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
DDG2P v3.73 FAM149B1 Achchuthan Shanmugasundram commented on gene: FAM149B1: The OMIM entry for this gene is OMIM:618413, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
DDG2P v3.73 DAW1 Achchuthan Shanmugasundram commented on gene: DAW1: The OMIM entry for this gene is OMIM:620279, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
DDG2P v3.73 COX16 Achchuthan Shanmugasundram commented on gene: COX16: The OMIM entry for this gene is OMIM:618064, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
DDG2P v3.73 CEP85L Achchuthan Shanmugasundram commented on gene: CEP85L: The OMIM entry for this gene is OMIM:618865, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
DDG2P v3.73 CCDC32 Achchuthan Shanmugasundram changed review comment from: The OMIM entry for this gene is OMIM:619219, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.; to: The OMIM entry for this gene is OMIM:618941, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
DDG2P v3.73 CCDC47 Achchuthan Shanmugasundram commented on gene: CCDC47: The OMIM entry for this gene is OMIM:618260, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
DDG2P v3.73 CCDC32 Achchuthan Shanmugasundram commented on gene: CCDC32: The OMIM entry for this gene is OMIM:619219, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
DDG2P v3.73 FBN1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Marfan Syndrome, biallelic, OMIM:154700 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 17568394; 27582083; 31950671).

The DDG2P confidence category for the disease MARFAN SYNDROME, OMIM:154700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 8428751; 8504310; 1631074; 7611299; 21594993; 7762551; 18412115; 1301946; 15287423; 15032979; 8430317; 8040326; 8101042; 9101298; 8406497; 11175294; 10766875; 17492313; 21594992; 17366579; 11702223; 9837823; 1569206; 8136837; 9241263; 7633409; 20082464; 10441597; 7911051; 20979188; 8281141; 1852208).

The DDG2P confidence category for the disease SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 8428751; 8504310; 1631074; 7611299; 7762551; 21594993; 18412115; 1301946; 15032979; 15287423; 8430317; 8040326; 8071963; 8101042; 9101298; 8406497; 11175294; 10766875; 17492313; 21594992; 23103230; 23023332; 17568394; 17366579; 11702223; 9837823; 1569206; 8136837; 9241263; 7633409; 20082464; 10441597; 8281141; 20979188; 7911051; 16333834; 1852208).

The DDG2P confidence category for the disease WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 12525539;23897642).; to: The DDG2P confidence category for the disease Marfan Syndrome, biallelic, OMIM:154700 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 17568394; 27582083; 31950671).

The DDG2P confidence category for the disease MARFAN SYNDROME, OMIM:154700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 8428751; 8504310; 1631074; 7611299; 21594993; 7762551; 18412115; 1301946; 15287423; 15032979; 8430317; 8040326; 8101042; 9101298; 8406497; 11175294; 10766875; 17492313; 21594992; 17366579; 11702223; 9837823; 1569206; 8136837; 9241263; 7633409; 20082464; 10441597; 7911051; 20979188; 8281141; 1852208).

The DDG2P confidence category for the disease SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 8428751; 8504310; 1631074; 7611299; 7762551; 21594993; 18412115; 1301946; 15032979; 15287423; 8430317; 8040326; 8071963; 8101042; 9101298; 8406497; 11175294; 10766875; 17492313; 21594992; 23103230; 23023332; 17568394; 17366579; 11702223; 9837823; 1569206; 8136837; 9241263; 7633409; 20082464; 10441597; 8281141; 20979188; 7911051; 16333834; 1852208).

The DDG2P confidence category for the disease WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 12525539; 23897642).
DDG2P v3.73 FBN1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Marfan Syndrome, biallelic, OMIM:154700 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 17568394;27582083;31950671).

The DDG2P confidence category for the disease MARFAN SYNDROME, OMIM:154700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 8428751;8504310;1631074;7611299;21594993;7762551;18412115;1301946;15287423;15032979;8430317;8040326;8101042;9101298;8406497;11175294;10766875;17492313;21594992;17366579;11702223;9837823;1569206;8136837;9241263;7633409;20082464;10441597;7911051;20979188;8281141;1852208).

The DDG2P confidence category for the disease SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 8428751;8504310;1631074;7611299;7762551;21594993;18412115;1301946;15032979;15287423;8430317;8040326;8071963;8101042;9101298;8406497;11175294;10766875;17492313;21594992;23103230;23023332;17568394;17366579;11702223;9837823;1569206;8136837;9241263;7633409;20082464;10441597;8281141;20979188;7911051;16333834;1852208).

The DDG2P confidence category for the disease WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 12525539;23897642).; to: The DDG2P confidence category for the disease Marfan Syndrome, biallelic, OMIM:154700 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 17568394; 27582083; 31950671).

The DDG2P confidence category for the disease MARFAN SYNDROME, OMIM:154700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 8428751; 8504310; 1631074; 7611299; 21594993; 7762551; 18412115; 1301946; 15287423; 15032979; 8430317; 8040326; 8101042; 9101298; 8406497; 11175294; 10766875; 17492313; 21594992; 17366579; 11702223; 9837823; 1569206; 8136837; 9241263; 7633409; 20082464; 10441597; 7911051; 20979188; 8281141; 1852208).

The DDG2P confidence category for the disease SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 8428751; 8504310; 1631074; 7611299; 7762551; 21594993; 18412115; 1301946; 15032979; 15287423; 8430317; 8040326; 8071963; 8101042; 9101298; 8406497; 11175294; 10766875; 17492313; 21594992; 23103230; 23023332; 17568394; 17366579; 11702223; 9837823; 1569206; 8136837; 9241263; 7633409; 20082464; 10441597; 8281141; 20979188; 7911051; 16333834; 1852208).

The DDG2P confidence category for the disease WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 12525539;23897642).
DDG2P v3.72 DMPK_CTG Achchuthan Shanmugasundram reviewed STR: DMPK_CTG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
DDG2P v3.72 DMPK Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene has now been demoted from Green to Red despite having a gene-disease association with 'definitive' rating in the DD panel in G2P. This is because the disease-causing mechanism is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene.
DDG2P v3.71 EDNRB Achchuthan Shanmugasundram changed review comment from: 'Q4_21_MOI' has now been removed as this gene still remains with monoallelic MOI in the DD panel in G2P database. In addition, Hearing loss panel has now been added to the Paediatric disorders super panel, where the MOI for this gene is BOTH mono and biallelic.; to: 'Q4_21_MOI' has now been removed as this gene still remains with monoallelic MOI in the DD panel in G2P database. In addition, Hearing loss panel has now been added to the Paediatric disorders super panel, where the MOI for this gene is BOTH mono and biallelic.
DDG2P v3.71 EDNRB Achchuthan Shanmugasundram commented on gene: EDNRB: 'Q4_21_MOI' has now been removed as this gene still remains with monoallelic MOI in the DD panel in G2P database. In addition, Hearing loss panel has now been added to the Paediatric disorders super panel, where the MOI for this gene is BOTH mono and biallelic.
DDG2P v3.69 CRYBA4 Achchuthan Shanmugasundram Phenotypes for gene: CRYBA4 were changed from MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4, OMIM:610426 to MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4, OMIM:610426
DDG2P v3.69 CRYBA4 Achchuthan Shanmugasundram Phenotypes for gene: CRYBA4 were changed from MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4, OMIM:610426 to MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4, OMIM:610426
DDG2P v3.69 CRYBA4 Achchuthan Shanmugasundram Phenotypes for gene: CRYBA4 were changed from CATARACT ZONULAR TYPE 2 610425; MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4 610426 to MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4, OMIM:610426
DDG2P v3.68 CRADD Achchuthan Shanmugasundram Phenotypes for gene: CRADD were changed from INTELLECTUAL DEVELOPMENTAL DISORDER, autosomal recessive 34, with variant lissencephaly, OMIM:614499 to INTELLECTUAL DEVELOPMENTAL DISORDER, autosomal recessive 34, with variant lissencephaly, OMIM:614499
DDG2P v3.68 CRADD Achchuthan Shanmugasundram Phenotypes for gene: CRADD were changed from INTELLECTUAL DEVELOPMENTAL DISORDER, autosomal recessive 34, with variant lissencephaly, OMIM:614499 to INTELLECTUAL DEVELOPMENTAL DISORDER, autosomal recessive 34, with variant lissencephaly, OMIM:614499
DDG2P v3.68 CRADD Achchuthan Shanmugasundram Phenotypes for gene: CRADD were changed from Megalencephaly with Variant Lissencephaly; MENTAL RETARDATION, NON-SYNDROMIC 614499 to INTELLECTUAL DEVELOPMENTAL DISORDER, autosomal recessive 34, with variant lissencephaly, OMIM:614499
DDG2P v3.63 XYLT1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease DESBUQUOIS DYSPLASIA 2, OMIM:615777 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:24581741). The DDG2P confidence category for the disease Baratela Scott Syndrome, OMIM:615777 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and cis-regulatory or promotor mutation (PMID:30554721).; to: The DDG2P confidence category for the disease DESBUQUOIS DYSPLASIA 2, OMIM:615777 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:24581741).

The DDG2P confidence category for the disease Baratela Scott Syndrome, OMIM:615777 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and cis-regulatory or promotor mutation (PMID:30554721).
DDG2P v3.61 TWIST2 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:26119818). The DDG2P confidence category for the disease SETLEIS SYNDROME, OMIM:227260 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 21931173;8818454;14069095).; to: The DDG2P confidence category for the disease ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:26119818).

The DDG2P confidence category for the disease SETLEIS SYNDROME, OMIM:227260 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 21931173;8818454;14069095).
DDG2P v3.61 TRAF7 Achchuthan Shanmugasundram changed review comment from: The 'watchlist' tag was removed as there is only one gene-disease association currently available in the DD panel in G2P database (July 2023) and the rating for this panel is strong (equivalent to green in PanelApp).; to: The 'watchlist' tag was removed as there is only one gene-disease association currently present in the DD panel in G2P database (July 2023) and the rating for this panel is strong (equivalent to green in PanelApp).
DDG2P v3.61 TRAF7 Achchuthan Shanmugasundram commented on gene: TRAF7: The 'watchlist' tag was removed as there is only one gene-disease association currently available in the DD panel in G2P database (July 2023) and the rating for this panel is strong (equivalent to green in PanelApp).
DDG2P v3.60 TBCE Achchuthan Shanmugasundram Phenotypes for gene: TBCE were changed from Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy; HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410 to Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy; HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410
DDG2P v3.60 TBCE Achchuthan Shanmugasundram Phenotypes for gene: TBCE were changed from Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy; HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410 to Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy; HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410
DDG2P v3.60 TBCE Achchuthan Shanmugasundram Phenotypes for gene: TBCE were changed from Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy; HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME 241410; KENNY-CAFFEY SYNDROME TYPE 1 244460 to Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy; HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410
DDG2P v3.59 TBCE Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:12389028). The DDG2P confidence category for the disease Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:27666369).; to: The DDG2P confidence category for the disease HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:12389028).

The DDG2P confidence category for the disease Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:27666369).
DDG2P v3.59 SPTBN2 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Infantile ataxia with oculomotor and pyramidal signs is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 29795474;25981959;22914369). The DDG2P confidence category for the disease SCA14 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product.; to: The DDG2P confidence category for the disease Infantile ataxia with oculomotor and pyramidal signs is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 29795474;25981959;22914369).

The DDG2P confidence category for the disease SCA14 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product.
DDG2P v3.58 SIX1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease BRANCHIOOTIC SYNDROME TYPE 3, OMIM:608389 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 10777717;12843324;15141091;17637804). The DDG2P confidence category for the disease Non-syndromic craniosynostosis is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product.; to: The DDG2P confidence category for the disease BRANCHIOOTIC SYNDROME TYPE 3, OMIM:608389 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 10777717;12843324;15141091;17637804).

The DDG2P confidence category for the disease Non-syndromic craniosynostosis is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product.
DDG2P v3.56 PCGF2 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Craniofacial Neurological Cardiovascular and Skeletal Features is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:30526864). The DDG2P confidence category for the disease INTELLECTUAL DISABILITY is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure.; to: The DDG2P confidence category for the disease Craniofacial Neurological Cardiovascular and Skeletal Features is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:30526864).

The DDG2P confidence category for the disease INTELLECTUAL DISABILITY is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure.
DDG2P v3.55 MYH3 Achchuthan Shanmugasundram Phenotypes for gene: MYH3 were changed from DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700; Recessive Spondylocarpotarsal Synostosis Syndrome to DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700; Recessive Spondylocarpotarsal Synostosis Syndrome
DDG2P v3.55 MYH3 Achchuthan Shanmugasundram Phenotypes for gene: MYH3 were changed from DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700; Recessive Spondylocarpotarsal Synostosis Syndrome to DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700; Recessive Spondylocarpotarsal Synostosis Syndrome
DDG2P v3.55 MYH3 Achchuthan Shanmugasundram Phenotypes for gene: MYH3 were changed from DISTAL ARTHROGRYPOSIS TYPE 2A 193700; DISTAL ARTHROGRYPOSIS TYPE 2B 601680; Recessive Spondylocarpotarsal Synostosis Syndrome to DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700; Recessive Spondylocarpotarsal Synostosis Syndrome
DDG2P v3.54 MYH3 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Recessive Spondylocarpotarsal Synostosis Syndrome is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:29805041). The DDG2P confidence category for the disease DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 18695058;16642020).; to: The DDG2P confidence category for the disease Recessive Spondylocarpotarsal Synostosis Syndrome is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:29805041).

The DDG2P confidence category for the disease DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 18695058;16642020).
DDG2P v3.54 MTOR Achchuthan Shanmugasundram Phenotypes for gene: MTOR were changed from Smith-Kingsmore syndrome, OMIM:616638 to Smith-Kingsmore syndrome, OMIM:616638
DDG2P v3.54 MTOR Achchuthan Shanmugasundram Phenotypes for gene: MTOR were changed from Smith-Kingsmore syndrome, OMIM:616638 to Smith-Kingsmore syndrome, OMIM:616638
DDG2P v3.54 MTOR Achchuthan Shanmugasundram Phenotypes for gene: MTOR were changed from EPILEPTIC ENCEPHALOPATHY; Smith-Kingsmore syndrome to Smith-Kingsmore syndrome, OMIM:616638
DDG2P v3.53 MITF Achchuthan Shanmugasundram Phenotypes for gene: MITF were changed from TIETZ SYNDROME, OMIM:103500; WAARDENBURG SYNDROME TYPE 2A, OMIM:193510; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306 to TIETZ SYNDROME, OMIM:103500; WAARDENBURG SYNDROME TYPE 2A, OMIM:193510; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306
DDG2P v3.53 MITF Achchuthan Shanmugasundram Phenotypes for gene: MITF were changed from TIETZ SYNDROME, OMIM:103500; WAARDENBURG SYNDROME TYPE 2A, OMIM:193510; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306 to TIETZ SYNDROME, OMIM:103500; WAARDENBURG SYNDROME TYPE 2A, OMIM:193510; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306
DDG2P v3.53 MITF Achchuthan Shanmugasundram Phenotypes for gene: MITF were changed from Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness 617306; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM 103470; TIETZ SYNDROME 103500; WAARDENBURG SYNDROME TYPE 2A 193510 to TIETZ SYNDROME, OMIM:103500; WAARDENBURG SYNDROME TYPE 2A, OMIM:193510; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306
DDG2P v3.52 MITF Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:27889061). The DDG2P confidence category for the disease TIETZ SYNDROME, OMIM:103500 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and uncertain (PMIDs: 8589691;10851256). The DDG2P confidence category for the disease WAARDENBURG SYNDROME TYPE 2A, OMIM:193510 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 9158138;8589691;9856573;7874167;8490648).; to: The DDG2P confidence category for the disease Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:27889061).

The DDG2P confidence category for the disease TIETZ SYNDROME, OMIM:103500 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and uncertain (PMIDs: 8589691;10851256).

The DDG2P confidence category for the disease WAARDENBURG SYNDROME TYPE 2A, OMIM:193510 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 9158138;8589691;9856573;7874167;8490648).
DDG2P v3.52 MAGEL2 Achchuthan Shanmugasundram Phenotypes for gene: MAGEL2 were changed from Schaaf-Yang syndrome; ARTHROGRYPOSIS MULTIPLEX CONGENITA to Schaaf-Yang syndrome, OMIM:615547
DDG2P v3.50 MAFB Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OMIM:166300 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:22387013). The DDG2P confidence category for the disease Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID:27181683).; to: The DDG2P confidence category for the disease MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OMIM:166300 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:22387013).

The DDG2P confidence category for the disease Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID:27181683).
DDG2P v3.49 LRP2 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease DONNAI-BARROW SYNDROME, OMIM:222448 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 19577669;17632512;23992033;29388841). The DDG2P confidence category for the disease INTELLECTUAL DISABILITY, OMIM:616579 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID:23033978).; to: The DDG2P confidence category for the disease DONNAI-BARROW SYNDROME, OMIM:222448 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 19577669;17632512;23992033;29388841).

The DDG2P confidence category for the disease INTELLECTUAL DISABILITY, OMIM:616579 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID:23033978).
DDG2P v3.49 KCNK4 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:30290154). The DDG2P confidence category for the disease FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth) is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:30290154).; to: The DDG2P confidence category for the disease Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:30290154).

The DDG2P confidence category for the disease FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth) is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:30290154).
DDG2P v3.46 ITPR1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Gillespie Syndrome, OMIM:206700 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:27108797). The DDG2P confidence category for the disease SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, OMIM:117360 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 27062503;22986007). The DDG2P confidence category for the disease Gillespie Syndrome, monoallelic, OMIM:206700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 27108798;27108797).; to: The DDG2P confidence category for the disease Gillespie Syndrome, OMIM:206700 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:27108797).

The DDG2P confidence category for the disease SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, OMIM:117360 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 27062503;22986007).

The DDG2P confidence category for the disease Gillespie Syndrome, monoallelic, OMIM:206700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 27108798;27108797).
DDG2P v3.44 IFIH1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease AICARDI-GOUTIERES SYNDROME 7, OMIM:615846 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:24995871). The DDG2P confidence category for the disease SINGLETON-MERTEN SYNDROME, OMIM:182250 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:25620204).; to: The DDG2P confidence category for the disease AICARDI-GOUTIERES SYNDROME 7, OMIM:615846 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:24995871).

The DDG2P confidence category for the disease SINGLETON-MERTEN SYNDROME, OMIM:182250 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:25620204).
DDG2P v3.43 GJA1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:11470490). The DDG2P confidence category for the disease AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 12457340;16816024). The DDG2P confidence category for the disease AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and uncertain (PMIDs: 4209752;15108203;7815444;17256797;21670345;15551259;12457340;2309863;16709485). The DDG2P confidence category for the disease SYNDACTYLY TYPE 3, OMIM:186100 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:2157843). The DDG2P confidence category for the disease HALLERMANN-STREIFF SYNDROME, OMIM:234100 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 14974090;14981729).; to: The DDG2P confidence category for the disease HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:11470490).

The DDG2P confidence category for the disease AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 12457340;16816024).

The DDG2P confidence category for the disease AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and uncertain (PMIDs: 4209752;15108203;7815444;17256797;21670345;15551259;12457340;2309863;16709485).

The DDG2P confidence category for the disease SYNDACTYLY TYPE 3, OMIM:186100 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:2157843).

The DDG2P confidence category for the disease HALLERMANN-STREIFF SYNDROME, OMIM:234100 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 14974090;14981729).
DDG2P v3.42 FBN1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Marfan Syndrome, biallelic, OMIM:154700 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 17568394;27582083;31950671). The DDG2P confidence category for the disease MARFAN SYNDROME, OMIM:154700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 8428751;8504310;1631074;7611299;21594993;7762551;18412115;1301946;15287423;15032979;8430317;8040326;8101042;9101298;8406497;11175294;10766875;17492313;21594992;17366579;11702223;9837823;1569206;8136837;9241263;7633409;20082464;10441597;7911051;20979188;8281141;1852208). The DDG2P confidence category for the disease SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 8428751;8504310;1631074;7611299;7762551;21594993;18412115;1301946;15032979;15287423;8430317;8040326;8071963;8101042;9101298;8406497;11175294;10766875;17492313;21594992;23103230;23023332;17568394;17366579;11702223;9837823;1569206;8136837;9241263;7633409;20082464;10441597;8281141;20979188;7911051;16333834;1852208). The DDG2P confidence category for the disease WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 12525539;23897642).; to: The DDG2P confidence category for the disease Marfan Syndrome, biallelic, OMIM:154700 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 17568394;27582083;31950671).

The DDG2P confidence category for the disease MARFAN SYNDROME, OMIM:154700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 8428751;8504310;1631074;7611299;21594993;7762551;18412115;1301946;15287423;15032979;8430317;8040326;8101042;9101298;8406497;11175294;10766875;17492313;21594992;17366579;11702223;9837823;1569206;8136837;9241263;7633409;20082464;10441597;7911051;20979188;8281141;1852208).

The DDG2P confidence category for the disease SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 8428751;8504310;1631074;7611299;7762551;21594993;18412115;1301946;15032979;15287423;8430317;8040326;8071963;8101042;9101298;8406497;11175294;10766875;17492313;21594992;23103230;23023332;17568394;17366579;11702223;9837823;1569206;8136837;9241263;7633409;20082464;10441597;8281141;20979188;7911051;16333834;1852208).

The DDG2P confidence category for the disease WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 12525539;23897642).
DDG2P v3.40 PIK3CA Achchuthan Shanmugasundram Phenotypes for gene: PIK3CA were changed from HEMIMEGALENCEPHALY PIK3CA; CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501 to HEMIMEGALENCEPHALY PIK3CA; CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501
DDG2P v3.40 PIK3CA Achchuthan Shanmugasundram Phenotypes for gene: PIK3CA were changed from HEMIMEGALENCEPHALY PIK3CA; CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501 to HEMIMEGALENCEPHALY PIK3CA; CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501
DDG2P v3.40 PIK3CA Achchuthan Shanmugasundram Phenotypes for gene: PIK3CA were changed from CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI 612918; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3 602501; HEMIMEGALENCEPHALY PIK3CA to HEMIMEGALENCEPHALY PIK3CA; CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501
DDG2P v3.39 FGFR1 Achchuthan Shanmugasundram Phenotypes for gene: FGFR1 were changed from Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950; Encephalocraniocutaneous lipomatosis, OMIM:613001; PFEIFFER SYNDROME, OMIM:101600; OSTEOGLOPHONIC DYSPLASIA, OMIM:166250; Hartsfield syndrome, OMIM:615465 to Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950; Encephalocraniocutaneous lipomatosis, OMIM:613001; PFEIFFER SYNDROME, OMIM:101600; OSTEOGLOPHONIC DYSPLASIA, OMIM:166250; Hartsfield syndrome, OMIM:615465
DDG2P v3.39 FGFR1 Achchuthan Shanmugasundram Phenotypes for gene: FGFR1 were changed from PFEIFFER SYNDROME 101600; OSTEOGLOPHONIC DYSPLASIA 166250; Hartsfield syndrome 615465; KALLMANN SYNDROME TYPE 2 147950; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM 146110; Encephalocraniocutaneous lipomatosis 613001 to Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950; Encephalocraniocutaneous lipomatosis, OMIM:613001; PFEIFFER SYNDROME, OMIM:101600; OSTEOGLOPHONIC DYSPLASIA, OMIM:166250; Hartsfield syndrome, OMIM:615465
DDG2P v3.38 PCDH19 Achchuthan Shanmugasundram Phenotypes for gene: PCDH19 were changed from EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9, OMIM:300088 to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9, OMIM:300088
DDG2P v3.38 PCDH19 Achchuthan Shanmugasundram Phenotypes for gene: PCDH19 were changed from EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9, OMIM:300088 to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9, OMIM:300088
DDG2P v3.38 PCDH19 Achchuthan Shanmugasundram Phenotypes for gene: PCDH19 were changed from EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9 300088 to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9, OMIM:300088
DDG2P v3.36 LMNA Achchuthan Shanmugasundram Phenotypes for gene: LMNA were changed from EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588; HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670 to EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588; HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670
DDG2P v3.36 LMNA Achchuthan Shanmugasundram Phenotypes for gene: LMNA were changed from EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588; HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670 to EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588; HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670
DDG2P v3.36 LMNA Achchuthan Shanmugasundram Phenotypes for gene: LMNA were changed from CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1 605588; CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM 212112; MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED 613205; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2 151660; CARDIOMYOPATHY DILATED TYPE 1A 115200; HUTCHINSON-GILFORD PROGERIA SYNDROME 176670; LETHAL TIGHT SKIN CONTRACTURE SYNDROME 275210; HEART-HAND SYNDROME SLOVENIAN TYPE 610140; MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY 248370; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B 159001; EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2 181350 to EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588; HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670
DDG2P v3.35 GJB3 Achchuthan Shanmugasundram Phenotypes for gene: GJB3 were changed from DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200; DEAFNESS, AUTOSOMAL RECESSIVE to DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200; DEAFNESS, AUTOSOMAL RECESSIVE
DDG2P v3.35 GJB3 Achchuthan Shanmugasundram Phenotypes for gene: GJB3 were changed from DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200; DEAFNESS, AUTOSOMAL RECESSIVE to DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200; DEAFNESS, AUTOSOMAL RECESSIVE
DDG2P v3.35 GJB3 Achchuthan Shanmugasundram Phenotypes for gene: GJB3 were changed from DEAFNESS AUTOSOMAL DOMINANT TYPE 2B 612644; DEAFNESS, AUTOSOMAL RECESSIVE; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 133200 to DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200; DEAFNESS, AUTOSOMAL RECESSIVE
DDG2P v3.34 MYH8 Achchuthan Shanmugasundram Phenotypes for gene: MYH8 were changed from DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300; CARNEY COMPLEX VARIANT, OMIM:608837 to DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300; CARNEY COMPLEX VARIANT, OMIM:608837
DDG2P v3.34 MYH8 Achchuthan Shanmugasundram Phenotypes for gene: MYH8 were changed from DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300; CARNEY COMPLEX VARIANT, OMIM:608837 to DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300; CARNEY COMPLEX VARIANT, OMIM:608837
DDG2P v3.34 MYH8 Achchuthan Shanmugasundram Phenotypes for gene: MYH8 were changed from DISTAL ARTHROGRYPOSIS TYPE 158300; CARNEY COMPLEX VARIANT 608837 to DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300; CARNEY COMPLEX VARIANT, OMIM:608837
DDG2P v3.33 MYH8 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease CARNEY COMPLEX VARIANT, OMIM:608837 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 28377322;15282353). The DDG2P confidence category for the disease DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease CARNEY COMPLEX VARIANT, OMIM:608837 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 28377322;15282353).

The DDG2P confidence category for the disease DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively.
DDG2P v3.33 KCNE1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2, OMIM:612347 is strong. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 30461122). The DDG2P confidence category for the disease LONG QT SYNDROME-5, OMIM:613695 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2, OMIM:612347 is strong. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 30461122).

The DDG2P confidence category for the disease LONG QT SYNDROME-5, OMIM:613695 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively.
DDG2P v3.33 KARS Achchuthan Shanmugasundram Phenotypes for gene: KARS were changed from DEAFNESS, AUTOSOMAL RECESSIVE 89 613916; CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B 613641 to DEAFNESS, AUTOSOMAL RECESSIVE 89, OMIM:613916; KARS1-related leukoencephalopathy with or without deafness, OMIM:619147
DDG2P v3.32 KARS Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease KARS1-related leukoencephalopathy with or without deafness, OMIM:619147 is strong. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: 20920668). The DDG2P confidence category for the disease DEAFNESS, AUTOSOMAL RECESSIVE 89, OMIM:613916 is limited. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 23768514).; to: The DDG2P confidence category for the disease KARS1-related leukoencephalopathy with or without deafness, OMIM:619147 is strong. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: 20920668).

The DDG2P confidence category for the disease DEAFNESS, AUTOSOMAL RECESSIVE 89, OMIM:613916 is limited. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 23768514).
DDG2P v3.31 CLN6 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease CEROID LIPOFUSCINOSIS, NEURONAL, 6, OMIM:601780 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: 11791207;15996215;11727201). The DDG2P confidence category for the disease CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, OMIM:204300 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease CEROID LIPOFUSCINOSIS, NEURONAL, 6, OMIM:601780 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: 11791207;15996215;11727201).

The DDG2P confidence category for the disease CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, OMIM:204300 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, altered gene product structure and potential IF respectively.
DDG2P v3.31 AR Achchuthan Shanmugasundram commented on gene: AR: The GMS review tags have now been removed as this panel has been updated with the recent version of the DD panel (July 2023) from Gene2Phenotype database.
DDG2P v3.30 AR Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease ANDROGEN INSENSITIVITY SYNDROME, OMIM:300068 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_hem, absent gene product and potential IF respectively (PMIDs: ). The DDG2P confidence category for the disease SPINAL AND BULBAR MUSCULAR ATROPHY, OMIM:313200 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_hem, altered gene product structure and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease ANDROGEN INSENSITIVITY SYNDROME, OMIM:300068 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_hem, absent gene product and potential IF respectively.

The DDG2P confidence category for the disease SPINAL AND BULBAR MUSCULAR ATROPHY, OMIM:313200 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_hem, altered gene product structure and potential IF respectively.
DDG2P v3.29 SMAD4 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ). The DDG2P confidence category for the disease MYHRE SYNDROME, OMIM:139210 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure.; to: The DDG2P confidence category for the disease Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively.

The DDG2P confidence category for the disease MYHRE SYNDROME, OMIM:139210 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure.
DDG2P v3.29 BGN Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Severe syndromic form of thoracic aortic aneurysm & dissection is strong. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_hem, absent gene product and potential IF respectively (PMIDs: 34807424;27632686). The DDG2P confidence category for the disease X-Linked Spondyloepimetaphyseal Dysplasia is strong. The allelic requirement and mutation consequence are monoallelic_X_hem and altered gene product structure (PMID:27236923).; to: The DDG2P confidence category for the disease Severe syndromic form of thoracic aortic aneurysm & dissection is strong. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_hem, absent gene product and potential IF respectively (PMIDs: 34807424;27632686).

The DDG2P confidence category for the disease X-Linked Spondyloepimetaphyseal Dysplasia is strong. The allelic requirement and mutation consequence are monoallelic_X_hem and altered gene product structure (PMID:27236923).
DDG2P v3.29 ANO5 Achchuthan Shanmugasundram Phenotypes for gene: ANO5 were changed from LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L, OMIM:611307; GNATHODIAPHYSEAL DYSPLASIA, OMIM:166260 to LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L, OMIM:611307; GNATHODIAPHYSEAL DYSPLASIA, OMIM:166260
DDG2P v3.29 ANO5 Achchuthan Shanmugasundram Phenotypes for gene: ANO5 were changed from GNATHODIAPHYSEAL DYSPLASIA 166260; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L 611307; MIYOSHI MUSCULAR DYSTROPHY TYPE 3 613319 to LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L, OMIM:611307; GNATHODIAPHYSEAL DYSPLASIA, OMIM:166260
DDG2P v3.28 ANO5 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease GNATHODIAPHYSEAL DYSPLASIA, OMIM:166260 is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ). The DDG2P confidence category for the disease LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L, OMIM:611307 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product.; to: The DDG2P confidence category for the disease GNATHODIAPHYSEAL DYSPLASIA, OMIM:166260 is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively.

The DDG2P confidence category for the disease LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L, OMIM:611307 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product.
DDG2P v3.27 TGFB2 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease LOEYS-DIETZ SYNDROME, TYPE 4, OMIM:614816 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease LOEYS-DIETZ SYNDROME, TYPE 4, OMIM:614816 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively.
DDG2P v3.26 SPTLC2 Achchuthan Shanmugasundram Phenotypes for gene: SPTLC2 were changed from NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC 613640 to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, OMIM:613640
DDG2P v3.25 SPTLC2 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, OMIM:613640 is strong. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, OMIM:613640 is strong. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively.
DDG2P v3.25 PLA2G6 Achchuthan Shanmugasundram Phenotypes for gene: PLA2G6 were changed from INFANTILE NEUROAXONAL DYSTROPHY 1 256600; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B 610217 to INFANTILE NEUROAXONAL DYSTROPHY 1, OMIM:256600
DDG2P v3.24 PLA2G6 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease INFANTILE NEUROAXONAL DYSTROPHY 1, OMIM:256600 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease INFANTILE NEUROAXONAL DYSTROPHY 1, OMIM:256600 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively.
DDG2P v3.24 LDB3 Achchuthan Shanmugasundram Phenotypes for gene: LDB3 were changed from MYOPATHY MYOFIBRILLAR TYPE 4, OMIM:609452 to MYOPATHY MYOFIBRILLAR TYPE 4, OMIM:609452
DDG2P v3.24 LDB3 Achchuthan Shanmugasundram Phenotypes for gene: LDB3 were changed from LEFT VENTRICULAR NON-COMPACTION TYPE 3 601493; CARDIOMYOPATHY DILATED TYPE 1C 601493; MYOPATHY MYOFIBRILLAR TYPE 4 609452 to MYOPATHY MYOFIBRILLAR TYPE 4, OMIM:609452
DDG2P v3.23 LDB3 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease MYOPATHY MYOFIBRILLAR TYPE 4, OMIM:609452 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease MYOPATHY MYOFIBRILLAR TYPE 4, OMIM:609452 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively.
DDG2P v3.22 KRIT1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1, OMIM:116860 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1, OMIM:116860 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively.
DDG2P v3.21 HSPD1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease LEUKODYSTROPHY HYPOMYELINATING TYPE 4, OMIM:612233 is strong. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease LEUKODYSTROPHY HYPOMYELINATING TYPE 4, OMIM:612233 is strong. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively.
DDG2P v3.21 GBA Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease GAUCHER DISEASE PERINATAL LETHAL, OMIM:608013 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease GAUCHER DISEASE PERINATAL LETHAL, OMIM:608013 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively.
DDG2P v3.21 COL4A2 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease PORENCEPHALY 2, OMIM:614483 is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease PORENCEPHALY 2, OMIM:614483 is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively.
DDG2P v3.21 COL4A1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease PORENCEPHALY 1, OMIM:175780 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease PORENCEPHALY 1, OMIM:175780 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively.
DDG2P v3.21 ATP13A2 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease PARKINSON DISEASE 9, OMIM:606693 is moderate. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease PARKINSON DISEASE 9, OMIM:606693 is moderate. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively.
DDG2P v3.19 SUFU Achchuthan Shanmugasundram Phenotypes for gene: SUFU were changed from Joubert Syndrome with Cranio-facial and Skeletal Defects; SUFU-related Joubert and congenital ocular motor apraxia to Joubert Syndrome with Cranio-facial and Skeletal Defects; SUFU-related Joubert and congenital ocular motor apraxia
DDG2P v3.19 SUFU Achchuthan Shanmugasundram Phenotypes for gene: SUFU were changed from Joubert Syndrome with Cranio-facial and Skeletal Defects; SUFU-related Joubert and congenital ocular motor apraxia to Joubert Syndrome with Cranio-facial and Skeletal Defects; SUFU-related Joubert and congenital ocular motor apraxia
DDG2P v3.19 SUFU Achchuthan Shanmugasundram Phenotypes for gene: SUFU were changed from Joubert Syndrome with Cranio-facial and Skeletal Defects to Joubert Syndrome with Cranio-facial and Skeletal Defects; SUFU-related Joubert and congenital ocular motor apraxia
DDG2P v3.18 SUFU Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease SUFU-related Joubert and congenital ocular motor apraxia is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 33024317;34675124). This gene-disease association is typified by reduced penetrance. The DDG2P confidence category for the disease Joubert Syndrome with Cranio-facial and Skeletal Defects is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:28965847).; to: The DDG2P confidence category for the disease SUFU-related Joubert and congenital ocular motor apraxia is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 33024317;34675124). This gene-disease association is typified by reduced penetrance.

The DDG2P confidence category for the disease Joubert Syndrome with Cranio-facial and Skeletal Defects is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:28965847).
DDG2P v3.18 GNAS Achchuthan Shanmugasundram Phenotypes for gene: GNAS were changed from ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580; MCCUNE-ALBRIGHT SYNDROME, OMIM:174800; PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233 to ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580; MCCUNE-ALBRIGHT SYNDROME, OMIM:174800; PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233
DDG2P v3.18 GNAS Achchuthan Shanmugasundram Phenotypes for gene: GNAS were changed from ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580; MCCUNE-ALBRIGHT SYNDROME, OMIM:174800; PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233 to ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580; MCCUNE-ALBRIGHT SYNDROME, OMIM:174800; PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233
DDG2P v3.18 GNAS Achchuthan Shanmugasundram Phenotypes for gene: GNAS were changed from GNAS HYPERFUNCTION 139320; PSEUDOHYPOPARATHYROIDISM TYPE 1B 603233; ALBRIGHT HEREDITARY OSTEODYSTROPHY 103580; ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 219080 to ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580; MCCUNE-ALBRIGHT SYNDROME, OMIM:174800; PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233
DDG2P v3.16 SMO Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Curry-Jones Syndrome, OMIM:601707 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically mosaic. The DDG2P confidence category for the disease SMO-related developmental disorder is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:32413283).; to: The DDG2P confidence category for the disease Curry-Jones Syndrome, OMIM:601707 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically mosaic.

The DDG2P confidence category for the disease SMO-related developmental disorder is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:32413283).
DDG2P v3.16 ATP1A2 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease ATP1A2-related epileptic encephalopathy is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically de novo respectively (PMID:33493807). The DDG2P confidence category for the disease MIGRAINE, FAMILIAL HEMIPLEGIC, ATP1A2-related is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 17435187;20837964). The DDG2P confidence category for the disease Autosomal recessive ATP1A2-related neuronal migration disorder with epilepsy is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 33880529;30690204;31608932).; to: The DDG2P confidence category for the disease ATP1A2-related epileptic encephalopathy is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically de novo respectively (PMID:33493807).

The DDG2P confidence category for the disease MIGRAINE, FAMILIAL HEMIPLEGIC, ATP1A2-related is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 17435187;20837964).

The DDG2P confidence category for the disease Autosomal recessive ATP1A2-related neuronal migration disorder with epilepsy is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 33880529;30690204;31608932).
DDG2P v3.16 SARS Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 34570399;28236339). The DDG2P confidence category for the disease Autosomal dominant SARS1-related neurodevelopmental disorder is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically de novo respectively (PMID:36041817).; to: The DDG2P confidence category for the disease SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 34570399;28236339).

The DDG2P confidence category for the disease Autosomal dominant SARS1-related neurodevelopmental disorder is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically de novo respectively (PMID:36041817).
DDG2P v3.15 FMR1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease FRAGILE X TREMOR/ATAXIA SYNDROME, OMIM:300623 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_hem, altered gene product structure and potential IF respectively. The DDG2P confidence category for the disease PREMATURE OVARIAN FAILURE SYNDROME TYPE 1, OMIM:311360 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_het, uncertain and potential IF respectively. The DDG2P confidence category for the disease FRAGILE X SYNDROME, OMIM:300624 is definitive. The allelic requirement and mutation consequence are monoallelic_X_hem and absent gene product.; to: The DDG2P confidence category for the disease FRAGILE X TREMOR/ATAXIA SYNDROME, OMIM:300623 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_hem, altered gene product structure and potential IF respectively.

The DDG2P confidence category for the disease PREMATURE OVARIAN FAILURE SYNDROME TYPE 1, OMIM:311360 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_het, uncertain and potential IF respectively.

The DDG2P confidence category for the disease FRAGILE X SYNDROME, OMIM:300624 is definitive. The allelic requirement and mutation consequence are monoallelic_X_hem and absent gene product.
DDG2P v3.15 SCN11A Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease EPISODIC PAIN SYNDROME, FAMILIAL, OMIM:615552 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ). The DDG2P confidence category for the disease CONGENITAL INABILITY TO EXPERIENCE PAIN is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:24036948).; to: The DDG2P confidence category for the disease EPISODIC PAIN SYNDROME, FAMILIAL, OMIM:615552 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively.

The DDG2P confidence category for the disease CONGENITAL INABILITY TO EXPERIENCE PAIN is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:24036948).
DDG2P v3.15 AARS Achchuthan Shanmugasundram Phenotypes for gene: AARS were changed from EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT to EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT
DDG2P v3.15 AARS Achchuthan Shanmugasundram Phenotypes for gene: AARS were changed from EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT to EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT
DDG2P v3.15 AARS Achchuthan Shanmugasundram Phenotypes for gene: AARS were changed from EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT. to EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT
DDG2P v3.14 COL4A3 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease ALPORT SYNDROME AUTOSOMAL DOMINANT, OMIM:104200 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: 11134255;9269635). The DDG2P confidence category for the disease ALPORT SYNDROME AUTOSOMAL RECESSIVE, OMIM:203780 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 7987396;7633417;9792860;7987301).; to: The DDG2P confidence category for the disease ALPORT SYNDROME AUTOSOMAL DOMINANT, OMIM:104200 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: 11134255;9269635).

The DDG2P confidence category for the disease ALPORT SYNDROME AUTOSOMAL RECESSIVE, OMIM:203780 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 7987396;7633417;9792860;7987301).
DDG2P v3.14 PIK3CA Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:22658544). The DDG2P confidence category for the disease MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:22729224). The DDG2P confidence category for the disease HEMIMEGALENCEPHALY PIK3CA is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure.; to: The DDG2P confidence category for the disease CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically mosaic respectively (PMID:22658544).

The DDG2P confidence category for the disease MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically mosaic respectively (PMID:22729224).

The DDG2P confidence category for the disease HEMIMEGALENCEPHALY PIK3CA is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically mosaic respectively.
DDG2P v3.14 FGFR1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Encephalocraniocutaneous lipomatosis, OMIM:613001 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:26942290). The DDG2P confidence category for the disease Hartsfield syndrome, OMIM:615465 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:23812909). The DDG2P confidence category for the disease PFEIFFER SYNDROME, OMIM:101600 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 10945669;9586546;7719345;9002682;8841188;8434615;10394936;15523615;7874169;11807866;9150725). The DDG2P confidence category for the disease OSTEOGLOPHONIC DYSPLASIA, OMIM:166250 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 15625620;7422392). The DDG2P confidence category for the disease Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 16606836;18596921;16882753;10690855;23643382;17235395;16418210;17360555;12627230).; to: The DDG2P confidence category for the disease Encephalocraniocutaneous lipomatosis, OMIM:613001 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically mosaic respectively (PMID:26942290).

The DDG2P confidence category for the disease Hartsfield syndrome, OMIM:615465 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:23812909).

The DDG2P confidence category for the disease PFEIFFER SYNDROME, OMIM:101600 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 10945669;9586546;7719345;9002682;8841188;8434615;10394936;15523615;7874169;11807866;9150725).

The DDG2P confidence category for the disease OSTEOGLOPHONIC DYSPLASIA, OMIM:166250 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 15625620;7422392).

The DDG2P confidence category for the disease Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 16606836;18596921;16882753;10690855;23643382;17235395;16418210;17360555;12627230).
DDG2P v3.14 PTEN Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease PROTEUS SYNDROME, OMIM:176920 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and typically mosaic (PMIDs: 12471211;16704655;11476841). The DDG2P confidence category for the disease PTEN Hamartoma Tumor Syndrome is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 11238682;10353779;9140396;9425889;12844284;15805158;9467011;9832032;17286265;10777358;23160955;9259288;9832031;9241266;10051160).; to: The DDG2P confidence category for the disease PROTEUS SYNDROME, OMIM:176920 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and typically mosaic respectively (PMIDs: 12471211;16704655;11476841).

The DDG2P confidence category for the disease PTEN Hamartoma Tumor Syndrome is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 11238682;10353779;9140396;9425889;12844284;15805158;9467011;9832032;17286265;10777358;23160955;9259288;9832031;9241266;10051160).
DDG2P v3.14 PTEN Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease PROTEUS SYNDROME, OMIM:176920 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 12471211;16704655;11476841). The DDG2P confidence category for the disease PTEN Hamartoma Tumor Syndrome is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 11238682;10353779;9140396;9425889;12844284;15805158;9467011;9832032;17286265;10777358;23160955;9259288;9832031;9241266;10051160).; to: The DDG2P confidence category for the disease PROTEUS SYNDROME, OMIM:176920 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and typically mosaic (PMIDs: 12471211;16704655;11476841). The DDG2P confidence category for the disease PTEN Hamartoma Tumor Syndrome is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 11238682;10353779;9140396;9425889;12844284;15805158;9467011;9832032;17286265;10777358;23160955;9259288;9832031;9241266;10051160).
DDG2P v3.14 SYNE1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, OMIM:610743 is strong. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, OMIM:610743 is strong. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively.
DDG2P v3.14 GJB3 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease DEAFNESS, AUTOSOMAL RECESSIVE is moderate. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ). The DDG2P confidence category for the disease DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644 is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ). The DDG2P confidence category for the disease ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200 is strong. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease DEAFNESS, AUTOSOMAL RECESSIVE is moderate. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively.

The DDG2P confidence category for the disease DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644 is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively.

The DDG2P confidence category for the disease ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200 is strong. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively.
DDG2P v3.14 LMNA Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 10587585;10655060).

The DDG2P confidence category for the disease EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively.

The DDG2P confidence category for the disease HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively. The DDG2P confidence category for the disease CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588 is limited. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, uncertain and potential IF respectively.; to: The DDG2P confidence category for the disease FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 10587585;10655060).

The DDG2P confidence category for the disease EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively.

The DDG2P confidence category for the disease HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively.

The DDG2P confidence category for the disease CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588 is limited. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, uncertain and potential IF respectively.
DDG2P v3.14 LMNA Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 10587585;10655060). The DDG2P confidence category for the disease EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ). The DDG2P confidence category for the disease HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: ). The DDG2P confidence category for the disease CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588 is limited. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, uncertain and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 10587585;10655060).

The DDG2P confidence category for the disease EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively.

The DDG2P confidence category for the disease HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively. The DDG2P confidence category for the disease CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588 is limited. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, uncertain and potential IF respectively.
DDG2P v3.14 GNAS Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 11029463;15592469;18182455). The MOI for this gene-disease associtaion is stated as imprinted in G2P and this gene is present in the Genomic imprinting panel in PanelApp (https://panelapp.genomicsengland.co.uk/panels/227/). The DDG2P confidence category for the disease MCCUNE-ALBRIGHT SYNDROME, OMIM:174800 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 1594625;15126527;1944469). The DDG2P confidence category for the disease ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 1505964;2122458;8072545;8702665;11095461;9328353;10487696;11073544;17299070).; to: The DDG2P confidence category for the disease PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 11029463;15592469;18182455). The MOI for this gene-disease associtaion is stated as imprinted in G2P and this gene is present in the Genomic imprinting panel in PanelApp (https://panelapp.genomicsengland.co.uk/panels/227/).

The DDG2P confidence category for the disease MCCUNE-ALBRIGHT SYNDROME, OMIM:174800 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically mosaic (PMIDs: 1594625;15126527;1944469).

The DDG2P confidence category for the disease ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 1505964;2122458;8072545;8702665;11095461;9328353;10487696;11073544;17299070).
DDG2P v3.14 SMO Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease Curry-Jones Syndrome, OMIM:601707 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure. The DDG2P confidence category for the disease SMO-related developmental disorder is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:32413283).; to: The DDG2P confidence category for the disease Curry-Jones Syndrome, OMIM:601707 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically mosaic. The DDG2P confidence category for the disease SMO-related developmental disorder is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:32413283).
DDG2P v3.14 ATP1A2 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease ATP1A2-related epileptic encephalopathy is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:33493807). The DDG2P confidence category for the disease MIGRAINE, FAMILIAL HEMIPLEGIC, ATP1A2-related is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 17435187;20837964). The DDG2P confidence category for the disease Autosomal recessive ATP1A2-related neuronal migration disorder with epilepsy is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 33880529;30690204;31608932).; to: The DDG2P confidence category for the disease ATP1A2-related epileptic encephalopathy is moderate. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically de novo respectively (PMID:33493807). The DDG2P confidence category for the disease MIGRAINE, FAMILIAL HEMIPLEGIC, ATP1A2-related is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 17435187;20837964). The DDG2P confidence category for the disease Autosomal recessive ATP1A2-related neuronal migration disorder with epilepsy is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 33880529;30690204;31608932).
DDG2P v3.14 SARS Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 34570399;28236339). The DDG2P confidence category for the disease Autosomal dominant SARS1-related neurodevelopmental disorder is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:36041817).; to: The DDG2P confidence category for the disease SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 34570399;28236339). The DDG2P confidence category for the disease Autosomal dominant SARS1-related neurodevelopmental disorder is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically de novo respectively (PMID:36041817).
DDG2P v3.14 FMR1 Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease FRAGILE X TREMOR/ATAXIA SYNDROME, OMIM:300623 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_hem, altered gene product structure and potential IF respectively (PMIDs: ). The DDG2P confidence category for the disease PREMATURE OVARIAN FAILURE SYNDROME TYPE 1, OMIM:311360 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_het, uncertain and potential IF respectively (PMIDs: ). The DDG2P confidence category for the disease FRAGILE X SYNDROME, OMIM:300624 is definitive. The allelic requirement and mutation consequence are monoallelic_X_hem and absent gene product.; to: The DDG2P confidence category for the disease FRAGILE X TREMOR/ATAXIA SYNDROME, OMIM:300623 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_hem, altered gene product structure and potential IF respectively. The DDG2P confidence category for the disease PREMATURE OVARIAN FAILURE SYNDROME TYPE 1, OMIM:311360 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_het, uncertain and potential IF respectively. The DDG2P confidence category for the disease FRAGILE X SYNDROME, OMIM:300624 is definitive. The allelic requirement and mutation consequence are monoallelic_X_hem and absent gene product.
DDG2P v3.12 ZSWIM6 Achchuthan Shanmugasundram reviewed gene: ZSWIM6: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25105228; Phenotypes: ACROMELIC FRONTONASAL DYSOSTOSIS, OMIM:603671; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZNF750 Achchuthan Shanmugasundram reviewed gene: ZNF750: Rating: GREEN; Mode of pathogenicity: ; Publications: 16751772; Phenotypes: SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS, OMIM:610227; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZNF713 Achchuthan Shanmugasundram reviewed gene: ZNF713: Rating: RED; Mode of pathogenicity: Other; Publications: 25196122; Phenotypes: AUTISM, OMIM:209850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZNF711 Achchuthan Shanmugasundram reviewed gene: ZNF711: Rating: GREEN; Mode of pathogenicity: ; Publications: 19377476; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED ZNF711-RELATED, OMIM:300803; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 ZNF599 Achchuthan Shanmugasundram reviewed gene: ZNF599: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZNF526 Achchuthan Shanmugasundram reviewed gene: ZNF526: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ZNF462 Achchuthan Shanmugasundram reviewed gene: ZNF462: Rating: GREEN; Mode of pathogenicity: ; Publications: 28513610; Phenotypes: Craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZNF407 Achchuthan Shanmugasundram reviewed gene: ZNF407: Rating: RED; Mode of pathogenicity: Other; Publications: 24907849, 32737394; Phenotypes: ZNF407-related Neurodevelopmental Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ZNF292 Achchuthan Shanmugasundram reviewed gene: ZNF292: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ZNF292-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZNF148 Achchuthan Shanmugasundram reviewed gene: ZNF148: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ZNF148-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZNF142 Achchuthan Shanmugasundram reviewed gene: ZNF142: Rating: GREEN; Mode of pathogenicity: ; Publications: 31036918, 35616059; Phenotypes: ZNF142-related neurodevelopmental disorder, OMIM:618425; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ZMYND8 Achchuthan Shanmugasundram reviewed gene: ZMYND8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35916866; Phenotypes: ZMYND8-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZMYND11 Achchuthan Shanmugasundram reviewed gene: ZMYND11: Rating: GREEN; Mode of pathogenicity: ; Publications: 27626064, 25281490, 25217958; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZMYND10 Achchuthan Shanmugasundram reviewed gene: ZMYND10: Rating: GREEN; Mode of pathogenicity: ; Publications: 23891471; Phenotypes: PRIMARY CILIARY DYSKINESIA-22, OMIM:615444; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ZMYM6 Achchuthan Shanmugasundram reviewed gene: ZMYM6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZMYM3 Achchuthan Shanmugasundram reviewed gene: ZMYM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 36586412; Phenotypes: ZMYM3-related neurodevelopmental disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 ZMYM2 Achchuthan Shanmugasundram reviewed gene: ZMYM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32891193; Phenotypes: ZMYM2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZMPSTE24 Achchuthan Shanmugasundram reviewed gene: ZMPSTE24: Rating: GREEN; Mode of pathogenicity: ; Publications: 12913070; Phenotypes: LETHAL RESTRICTIVE DERMOPATHY, ZMPSTE24-RELATED, OMIM:319186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ZMIZ1 Achchuthan Shanmugasundram reviewed gene: ZMIZ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30639322; Phenotypes: Syndromic Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZIC3 Achchuthan Shanmugasundram reviewed gene: ZIC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS, OMIM:314390, HETEROTAXY SYNDROME, OMIM:207574; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 ZIC2 Achchuthan Shanmugasundram reviewed gene: ZIC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 9771712, 11479728, 21638761; Phenotypes: HOLOPROSENCEPHALY, OMIM:609637; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZIC1 Achchuthan Shanmugasundram reviewed gene: ZIC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26340333; Phenotypes: CRANIOSYNOSTOSIS 6, OMIM:616602; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZFYVE26 Achchuthan Shanmugasundram reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: ; Publications: 18098276, 11342696, 19805727, 17661097; Phenotypes: SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE TYPE 15, OMIM:270700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ZFYVE19 Achchuthan Shanmugasundram reviewed gene: ZFYVE19: Rating: GREEN; Mode of pathogenicity: ; Publications: 32737136, 33853651; Phenotypes: ZFYVE19-related congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ZFPM2 Achchuthan Shanmugasundram reviewed gene: ZFPM2: Rating: RED; Mode of pathogenicity: ; Publications: 16103912, 24549039; Phenotypes: DIAPHRAGMATIC HERNIA 3, OMIM:610187, ZFPM2-associated malformation syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZFP57 Achchuthan Shanmugasundram reviewed gene: ZFP57: Rating: GREEN; Mode of pathogenicity: ; Publications: 18622393; Phenotypes: DIABETES MELLITUS, 6Q24-RELATED TRANSIENT NEONATAL, OMIM:601410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ZFHX4 Achchuthan Shanmugasundram reviewed gene: ZFHX4: Rating: GREEN; Mode of pathogenicity: ; Publications: 11935336, 33057194; Phenotypes: ZFHX4-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZFHX3 Achchuthan Shanmugasundram reviewed gene: ZFHX3: Rating: RED; Mode of pathogenicity: ; Publications: 32502225, 30809043; Phenotypes: ZFHX3-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZEB2 Achchuthan Shanmugasundram reviewed gene: ZEB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16532472, 11595972, 9719364, 16688751, 11891681, 11592033, 12920073, 12451214, 16088920, 11279515; Phenotypes: MOWAT-WILSON SYNDROME, OMIM:235730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZEB1 Achchuthan Shanmugasundram reviewed gene: ZEB1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CORNEAL DYSTROPHY FUCHS ENDOTHELIAL TYPE 6, OMIM:613270; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZDHHC9 Achchuthan Shanmugasundram reviewed gene: ZDHHC9: Rating: GREEN; Mode of pathogenicity: ; Publications: 26000327, 17436253; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED ZDHHC9-RELATED, OMIM:300799; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 ZDHHC15 Achchuthan Shanmugasundram reviewed gene: ZDHHC15: Rating: RED; Mode of pathogenicity: ; Publications: 15915161; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 91, OMIM:300577; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 ZCCHC8 Achchuthan Shanmugasundram reviewed gene: ZCCHC8: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ZC4H2 Achchuthan Shanmugasundram reviewed gene: ZC4H2: Rating: GREEN; Mode of pathogenicity: ; Publications: 4039531, 1915520, 31206972, 36250278, 23623388; Phenotypes: ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY, OMIM:314580, ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY, hemizygous, OMIM:314580; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 ZBTB7A Achchuthan Shanmugasundram reviewed gene: ZBTB7A: Rating: RED; Mode of pathogenicity: ; Publications: 31645653, 34515416; Phenotypes: ZBTB7A-associated developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZBTB40 Achchuthan Shanmugasundram reviewed gene: ZBTB40: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ZBTB20 Achchuthan Shanmugasundram reviewed gene: ZBTB20: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25017102; Phenotypes: PRIMROSE SYNDROME, OMIM:259050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZBTB18 Achchuthan Shanmugasundram reviewed gene: ZBTB18: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ZBTB18 syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ZBTB16 Achchuthan Shanmugasundram reviewed gene: ZBTB16: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: SKELETAL DEFECTS GENITAL HYPOPLASIA AND INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:612447; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 YY1 Achchuthan Shanmugasundram reviewed gene: YY1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28575647, 21076407; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 YWHAG Achchuthan Shanmugasundram reviewed gene: YWHAG: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28777935; Phenotypes: Early-Onset Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 YRDC Achchuthan Shanmugasundram reviewed gene: YRDC: Rating: GREEN; Mode of pathogenicity: ; Publications: 31481669, 34545459; Phenotypes: YRDC-associated nephrotic syndrome and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 YARS2 Achchuthan Shanmugasundram reviewed gene: YARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23918765, 30026338, 20598274; Phenotypes: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, OMIM:613561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 YAP1 Achchuthan Shanmugasundram reviewed gene: YAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24462371, 27267789; Phenotypes: COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:120433; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 XYLT2 Achchuthan Shanmugasundram reviewed gene: XYLT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26987875, 28884924, 26027496, 29136277; Phenotypes: SPONDYLOOCULAR SYNDROME, OMIM:605822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 XYLT1 Achchuthan Shanmugasundram reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24581741, 30554721; Phenotypes: DESBUQUOIS DYSPLASIA 2, OMIM:615777, Baratela Scott Syndrome, OMIM:615777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 XRCC4 Achchuthan Shanmugasundram reviewed gene: XRCC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25728776; Phenotypes: PRIMORDIAL DWARFISM, OMIM:615272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 XPNPEP3 Achchuthan Shanmugasundram reviewed gene: XPNPEP3: Rating: RED; Mode of pathogenicity: ; Publications: 20179356; Phenotypes: NEPHRONOPHTHISIS-LIKE NEPHROPATHY TYPE 1, OMIM:613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 XPC Achchuthan Shanmugasundram reviewed gene: XPC: Rating: GREEN; Mode of pathogenicity: ; Publications: 14662655, 8298653, 19478817, 11511294, 9804340, 11121128; Phenotypes: XERODERMA PIGMENTOSUM, GROUP C, OMIM:278720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 XPA Achchuthan Shanmugasundram reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: ; Publications: 16098033, 1339397, 2234061, 10767341, 1372102; Phenotypes: XERODERMA PIGMENTOSUM, GROUP A, OMIM:278700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WWOX Achchuthan Shanmugasundram reviewed gene: WWOX: Rating: GREEN; Mode of pathogenicity: ; Publications: 24369382, 24456803; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, OMIM:616211, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12, OMIM:614322; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WT1 Achchuthan Shanmugasundram reviewed gene: WT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 8388765, 1302008, 10571943, 1327525, 9499425, 1658787, 1655284; Phenotypes: DENYS-DRASH SYNDROME, OMIM:194080; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 WRAP53 Achchuthan Shanmugasundram reviewed gene: WRAP53: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21205863; Phenotypes: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3, OMIM:613988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WNT7A Achchuthan Shanmugasundram reviewed gene: WNT7A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9128926, 20949531, 21344627, 21271649, 16826533; Phenotypes: WNT7A- associated skeletal malformations syndrome, OMIM:228930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WNT5A Achchuthan Shanmugasundram reviewed gene: WNT5A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19918918, 5771504; Phenotypes: WNT5A-RELATED ROBINOW SYNDROME, AUTOSOMAL DOMINANT, OMIM:180700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 WNT4 Achchuthan Shanmugasundram reviewed gene: WNT4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 18179883, 15317892; Phenotypes: MULLERIAN APLASIA AND HYPERANDROGENISM, OMIM:158330, SERKAL SYNDROME, OMIM:611812; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 WNT3 Achchuthan Shanmugasundram reviewed gene: WNT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 14872406; Phenotypes: TETRA-AMELIA SYNDROME, OMIM:276069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WNT10B Achchuthan Shanmugasundram reviewed gene: WNT10B: Rating: GREEN; Mode of pathogenicity: ; Publications: 20635353, 12072797; Phenotypes: SPLIT-HAND/FOOT MALFORMATION TYPE 6, OMIM:225300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WNT1 Achchuthan Shanmugasundram reviewed gene: WNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23499309; Phenotypes: OSTEOGENESIS IMPERFECTA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WNK3 Achchuthan Shanmugasundram reviewed gene: WNK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 35678782; Phenotypes: WNK3-related neurodevelopmental disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 WFS1 Achchuthan Shanmugasundram reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21067485, 25390390, 17568405, 22311385, 22226368, 10521293, 23373429, 15605410, 18806274, 14724730, 21726277, 11295831, 15151504, 18544103, 16442662, 21823543, 21564155, 15503287, 11161832, 22781099, 19042979, 15277431, 16648378, 12107816, 21623591, 15070927, 22238590, 21446023, 19160074, 23103830, 21538838, 21968327, 21602428, 9771706, 12707373, 11317648, 16151413, 20069065, 18660851, 20875904, 16459465; Phenotypes: Wolfram-like syndrome, autosomal dominant, OMIM:614296, WOLFRAM SYNDROME 1, OMIM:222300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 WDR81 Achchuthan Shanmugasundram reviewed gene: WDR81: Rating: RED; Mode of pathogenicity: Other; Publications: 21885617; Phenotypes: CEREBELLAR ATAXIA, INTELLECTUAL DEVELOPMENTAL DISORDER, AND DYSEQUILIBRIUM SYNDROME 2, OMIM:610185; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WDR73 Achchuthan Shanmugasundram reviewed gene: WDR73: Rating: GREEN; Mode of pathogenicity: ; Publications: 25466283; Phenotypes: GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WDR62 Achchuthan Shanmugasundram reviewed gene: WDR62: Rating: GREEN; Mode of pathogenicity: ; Publications: 20890279, 20890278, 20729831, 21834044, 10573015; Phenotypes: MICROCEPHALY CORTICAL MALFORMATIONS AND INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:604317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WDR60 Achchuthan Shanmugasundram reviewed gene: WDR60: Rating: GREEN; Mode of pathogenicity: ; Publications: 23910462; Phenotypes: SHORT-RIB POLYDACTYLY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WDR5 Achchuthan Shanmugasundram reviewed gene: WDR5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36408368; Phenotypes: WDR5-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 WDR45B Achchuthan Shanmugasundram reviewed gene: WDR45B: Rating: GREEN; Mode of pathogenicity: ; Publications: 28503735, 35322404, 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WDR45 Achchuthan Shanmugasundram reviewed gene: WDR45: Rating: GREEN; Mode of pathogenicity: ; Publications: 30612247, 28932395, 28371320, 30713886, 30539914, 23176820, 29981852, 26609730, 28551038, 31466010, 27030146, 26790960, 26240209, 28361255, 29171013, 29082105, 29681108, 29600274, 26022463, 27957548, 27681470; Phenotypes: WDR45-RELATED NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 WDR4 Achchuthan Shanmugasundram reviewed gene: WDR4: Rating: RED; Mode of pathogenicity: ; Publications: 30079490; Phenotypes: GALLOWAY-MOWAT SYNDROME 6, OMIM:618347; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WDR37 Achchuthan Shanmugasundram reviewed gene: WDR37: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31327508, 31327510; Phenotypes: SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 WDR35 Achchuthan Shanmugasundram reviewed gene: WDR35: Rating: GREEN; Mode of pathogenicity: ; Publications: 21473986, 35875935, 20817137; Phenotypes: CRANIOECTODERMAL DYSPLASIA 2, OMIM:613610; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WDR34 Achchuthan Shanmugasundram reviewed gene: WDR34: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24183449; Phenotypes: SEVERE ASPHYXIATING THORACIC DYSPLASIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WDR26 Achchuthan Shanmugasundram reviewed gene: WDR26: Rating: GREEN; Mode of pathogenicity: ; Publications: 28686853; Phenotypes: Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features, OMIM:617616; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 WDR19 Achchuthan Shanmugasundram reviewed gene: WDR19: Rating: GREEN; Mode of pathogenicity: ; Publications: 19430947, 22019273; Phenotypes: CRANIOECTODERMAL DYSPLASIA 4, OMIM:614378, ASPHYXIATING THORACIC DYSTROPHY 5, OMIM:614376; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WDR11 Achchuthan Shanmugasundram reviewed gene: WDR11: Rating: GREEN; Mode of pathogenicity: ; Publications: 34413497; Phenotypes: WDR11-associated intellectual disability and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WDPCP Achchuthan Shanmugasundram reviewed gene: WDPCP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: BARDET-BIEDL SYNDROME TYPE 15, OMIM:615992; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WDFY3 Achchuthan Shanmugasundram reviewed gene: WDFY3: Rating: GREEN; Mode of pathogenicity: ; Publications: 31327001; Phenotypes: Primary Microcephaly or macrocephaly with developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 WASHC5 Achchuthan Shanmugasundram reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 24065355; Phenotypes: WASHC5-associated intellectual disability, congenital cardiac malformation and Dandy-Walker malformation, OMIM:220210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 WASF1 Achchuthan Shanmugasundram reviewed gene: WASF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29961568; Phenotypes: Intellectual Disability with Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 WARS Achchuthan Shanmugasundram reviewed gene: WARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369220, 31321409, 31069783, 35815345; Phenotypes: WARS1-associated neurodevelopmental syndrome, Distal hereditary motor neuropathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 WAC Achchuthan Shanmugasundram reviewed gene: WAC: Rating: GREEN; Mode of pathogenicity: ; Publications: 26264232, 26757981, 35018708; Phenotypes: Desanto-Shinawi syndrome, OMIM:616708; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 VSX2 Achchuthan Shanmugasundram reviewed gene: VSX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES, OMIM:610092, MICROPHTHALMIA ISOLATED TYPE 2, OMIM:610093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 VRK1 Achchuthan Shanmugasundram reviewed gene: VRK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 19646678; Phenotypes: PONTOCEREBELLAR HYPOPLASIA TYPE 1, OMIM:607596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 VPS53 Achchuthan Shanmugasundram reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: ; Publications: 30100179, 24577744; Phenotypes: Progressive cerebella-cerebral atrophy type 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 VPS4A Achchuthan Shanmugasundram reviewed gene: VPS4A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33186543, 33186545; Phenotypes: CIMDAG Syndrome, biallelic, CIMDAG Syndrome, monoallelic; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 VPS33B Achchuthan Shanmugasundram reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, OMIM:208085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 VPS13B Achchuthan Shanmugasundram reviewed gene: VPS13B: Rating: GREEN; Mode of pathogenicity: ; Publications: 31580008; Phenotypes: COHEN SYNDROME, OMIM:216550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 VLDLR Achchuthan Shanmugasundram reviewed gene: VLDLR: Rating: GREEN; Mode of pathogenicity: ; Publications: 34085948, 18326629, 18043714, 16080122; Phenotypes: CEREBELLAR ATAXIA INTELLECTUAL DEVELOPMENTAL DISORDER AND DYSEQUILIBRIUM SYNDROME TYPE 1, OMIM:224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 VIPAS39 Achchuthan Shanmugasundram reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, OMIM:613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 VIP Achchuthan Shanmugasundram reviewed gene: VIP: Rating: RED; Mode of pathogenicity: ; Publications: 23849776; Phenotypes: ASPERGER; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 VDR Achchuthan Shanmugasundram reviewed gene: VDR: Rating: GREEN; Mode of pathogenicity: ; Publications: 3024987, 9005998, 9360557, 2557627, 11564167, 2177843, 17970811, 2558018, 2849209, 8675579, 8392085, 8961271; Phenotypes: RICKETS VITAMIN D-DEPENDENT TYPE 2A, OMIM:277440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 VCP Achchuthan Shanmugasundram reviewed gene: VCP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: VCP-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 VANGL1 Achchuthan Shanmugasundram reviewed gene: VANGL1: Rating: RED; Mode of pathogenicity: Other; Publications: 17409324; Phenotypes: NEURAL TUBE DEFECTS, OMIM:182940; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 VAMP2 Achchuthan Shanmugasundram reviewed gene: VAMP2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30929742; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 VAC14 Achchuthan Shanmugasundram reviewed gene: VAC14: Rating: RED; Mode of pathogenicity: Other; Publications: 27292112; Phenotypes: Progressive neurological disorder and regression of developmental milestones; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UVSSA Achchuthan Shanmugasundram reviewed gene: UVSSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: UV-SENSITIVE SYNDROME, OMIM:609413; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UTP4 Achchuthan Shanmugasundram reviewed gene: UTP4: Rating: RED; Mode of pathogenicity: Other; Publications: 12417987; Phenotypes: NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS, OMIM:205306; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 USP9X Achchuthan Shanmugasundram reviewed gene: USP9X: Rating: GREEN; Mode of pathogenicity: ; Publications: 24607389, 31443933, 26833328; Phenotypes: MRX99, OMIM:300919, INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99, OMIM:300919, INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 USP7 Achchuthan Shanmugasundram reviewed gene: USP7: Rating: GREEN; Mode of pathogenicity: ; Publications: 30679821, 26365382; Phenotypes: USP7-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 USP27X Achchuthan Shanmugasundram reviewed gene: USP27X: Rating: GREEN; Mode of pathogenicity: ; Publications: 25644381; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 USP18 Achchuthan Shanmugasundram reviewed gene: USP18: Rating: GREEN; Mode of pathogenicity: ; Publications: 27325888; Phenotypes: Severe pseudo-TORCH syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 USP14 Achchuthan Shanmugasundram reviewed gene: USP14: Rating: RED; Mode of pathogenicity: Other; Publications: 35066879; Phenotypes: DISTAL ARTHROGRYPOSIS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 USB1 Achchuthan Shanmugasundram reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25044170, 23393019, 23190533; Phenotypes: Poikiloderma with neutropenia, OMIM:604173; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UROS Achchuthan Shanmugasundram reviewed gene: UROS: Rating: GREEN; Mode of pathogenicity: ; Publications: 8946173, 19965637, 7860775, 2331520, 12060141, 1733834, 11254675, 9834209; Phenotypes: CONGENITAL ERYTHROPOIETIC PORPHYRIA, OMIM:263700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UROC1 Achchuthan Shanmugasundram reviewed gene: UROC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19304569; Phenotypes: UROCANASE DEFICIENCY, OMIM:276880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UQCRQ Achchuthan Shanmugasundram reviewed gene: UQCRQ: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRQ RELATED, OMIM:319211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UQCRFS1 Achchuthan Shanmugasundram reviewed gene: UQCRFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31883641; Phenotypes: Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UQCRB Achchuthan Shanmugasundram reviewed gene: UQCRB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRB-RELATED, OMIM:257827; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UPF3B Achchuthan Shanmugasundram reviewed gene: UPF3B: Rating: GREEN; Mode of pathogenicity: ; Publications: 17704778; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED TYPE 14, OMIM:300676; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 UPF1 Achchuthan Shanmugasundram reviewed gene: UPF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33057194; Phenotypes: UPF1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 UNC80 Achchuthan Shanmugasundram reviewed gene: UNC80: Rating: GREEN; Mode of pathogenicity: ; Publications: 26708753, 26708751; Phenotypes: Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UNC45B Achchuthan Shanmugasundram reviewed gene: UNC45B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33217308; Phenotypes: UNC45B-associated Progressive Myopathy with Eccentric Cores; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UNC45A Achchuthan Shanmugasundram reviewed gene: UNC45A: Rating: GREEN; Mode of pathogenicity: ; Publications: 35575086; Phenotypes: Osteootohepatoenteric syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UMPS Achchuthan Shanmugasundram reviewed gene: UMPS: Rating: GREEN; Mode of pathogenicity: ; Publications: 9042911; Phenotypes: OROTIC ACIDURIA TYPE 1, OMIM:258900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UHRF1 Achchuthan Shanmugasundram reviewed gene: UHRF1: Rating: RED; Mode of pathogenicity: Other; Publications: 36458887; Phenotypes: UHRF1-related immunodeficiency-centromeric instability-facial anomalies syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UGT1A1 Achchuthan Shanmugasundram reviewed gene: UGT1A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9497253, 9295054, 11968090, 9039987; Phenotypes: CRIGLER-NAJJAR SYNDROME, TYPE I, OMIM:218800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UGP2 Achchuthan Shanmugasundram reviewed gene: UGP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31820119; Phenotypes: UGP2 Epileptic Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UFSP2 Achchuthan Shanmugasundram reviewed gene: UFSP2: Rating: RED; Mode of pathogenicity: Other; Publications: 33473208; Phenotypes: UFSP2-associated developmental delay and epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UFM1 Achchuthan Shanmugasundram reviewed gene: UFM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29868776; Phenotypes: Severe early-onset encephalopathy with progressive microcephaly,; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UFC1 Achchuthan Shanmugasundram reviewed gene: UFC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29868776; Phenotypes: Severe early-onset encephalopathy with progressive microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UBTF Achchuthan Shanmugasundram reviewed gene: UBTF: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28777933; Phenotypes: Childhood-Onset Neurodegeneration; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 UBR7 Achchuthan Shanmugasundram reviewed gene: UBR7: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 36757286, 33340455; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UBR1 Achchuthan Shanmugasundram reviewed gene: UBR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19006206, 16311597, 18553553; Phenotypes: JOHANSON-BLIZZARD SYNDROME, OMIM:243800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UBE4A Achchuthan Shanmugasundram reviewed gene: UBE4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 33420346; Phenotypes: UBE4A-associated neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UBE3B Achchuthan Shanmugasundram reviewed gene: UBE3B: Rating: GREEN; Mode of pathogenicity: ; Publications: 23200864, 21567902; Phenotypes: BLEPHAROPHIMOSIS-INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:615057; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UBE3A Achchuthan Shanmugasundram reviewed gene: UBE3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 1338769, 7905534, 8988171; Phenotypes: ANGELMAN SYNDROME, OMIM:105830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
DDG2P v3.12 UBE2T Achchuthan Shanmugasundram reviewed gene: UBE2T: Rating: GREEN; Mode of pathogenicity: ; Publications: 26046368; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP T, OMIM:616435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 UBE2A Achchuthan Shanmugasundram reviewed gene: UBE2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: UBE2A-RELATED X-LINKED SYNDROMIC INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:319562; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 UBAP2L Achchuthan Shanmugasundram reviewed gene: UBAP2L: Rating: GREEN; Mode of pathogenicity: ; Publications: 35977029; Phenotypes: UBAP2L-associated neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 UBA5 Achchuthan Shanmugasundram reviewed gene: UBA5: Rating: GREEN; Mode of pathogenicity: ; Publications: 27545681, 27545674; Phenotypes: Severe Infantile-Onset Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 U2AF2 Achchuthan Shanmugasundram reviewed gene: U2AF2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: U2AF2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TYRP1 Achchuthan Shanmugasundram reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15996218, 8651291, 19533799, 16704458; Phenotypes: OCULOCUTANEOUS ALBINISM TYPE 3, OMIM:203290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TYR Achchuthan Shanmugasundram reviewed gene: TYR: Rating: GREEN; Mode of pathogenicity: ; Publications: 30679655, 8477259, 1970634, 2511845, 3081286, 28667292; Phenotypes: OCULOCUTANEOUS ALBINISM TYPE 1, OMIM:203100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TXNL4A Achchuthan Shanmugasundram reviewed gene: TXNL4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25434003; Phenotypes: BURN MCKEOWN SYNDROME, OMIM:608572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TWIST2 Achchuthan Shanmugasundram reviewed gene: TWIST2: Rating: GREEN; Mode of pathogenicity: ; Publications: 14069095, 26119818, 21931173, 8818454; Phenotypes: SETLEIS SYNDROME, OMIM:227260, ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 TWIST1 Achchuthan Shanmugasundram reviewed gene: TWIST1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17343269, 8988166, 8988167, 9259286; Phenotypes: SAETHRE-CHOTZEN SYNDROME, OMIM:101400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TUSC3 Achchuthan Shanmugasundram reviewed gene: TUSC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 21739581, 18455129; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 7, OMIM:611093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TUFM Achchuthan Shanmugasundram reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17160893; Phenotypes: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, OMIM:610678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TUBGCP6 Achchuthan Shanmugasundram reviewed gene: TUBGCP6: Rating: GREEN; Mode of pathogenicity: ; Publications: 22279524; Phenotypes: MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:251270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TUBGCP4 Achchuthan Shanmugasundram reviewed gene: TUBGCP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25817018; Phenotypes: AUTOSOMAL-RECESSIVE MICROCEPHALY WITH CHORIORETINOPATHY.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TUBGCP2 Achchuthan Shanmugasundram reviewed gene: TUBGCP2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31630790; Phenotypes: Microcephaly and Lissencephaly Spectrum Disorders; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TUBG1 Achchuthan Shanmugasundram reviewed gene: TUBG1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23603762; Phenotypes: Posteriorly predominant pachygyria and severe microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TUBB4A Achchuthan Shanmugasundram reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23582646; Phenotypes: HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TUBB3 Achchuthan Shanmugasundram reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20074521, 20829227; Phenotypes: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TUBB2B Achchuthan Shanmugasundram reviewed gene: TUBB2B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22333901, 19465910; Phenotypes: POLYMICROGYRIA ASYMMETRIC, OMIM:610031; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TUBB2A Achchuthan Shanmugasundram reviewed gene: TUBB2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24702957; Phenotypes: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, OMIM:615763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TUBB Achchuthan Shanmugasundram reviewed gene: TUBB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23246003, 26637975; Phenotypes: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, OMIM:615771, Circumferential Skin Creases Kunze Type, OMIM:156610; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TUBA8 Achchuthan Shanmugasundram reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: ; Publications: 19896110; Phenotypes: POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, OMIM:613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TUBA1A Achchuthan Shanmugasundram reviewed gene: TUBA1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 21403111, 17218254, 18728072, 30016746, 17584854, 33649541, 18954413; Phenotypes: LISSENCEPHALY TYPE 3, OMIM:611603, INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TTN Achchuthan Shanmugasundram reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: ; Publications: 31660661, 32778822, 29575618, 36495114, 29691892, 17444505, 35605965, 28040389; Phenotypes: Autosomal recessive titinopathy with arthrogryposis and/or myopathy , OMIM:611705; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TTI2 Achchuthan Shanmugasundram reviewed gene: TTI2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TTC8 Achchuthan Shanmugasundram reviewed gene: TTC8: Rating: GREEN; Mode of pathogenicity: ; Publications: 20451172; Phenotypes: RETINITIS PIGMENTOSA TYPE 51, OMIM:613464, BARDET-BIEDL SYNDROME TYPE 8, OMIM:615985; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TTC7A Achchuthan Shanmugasundram reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: ; Publications: 23423984; Phenotypes: INTESTINAL ATRESIA, MULTIPLE, OMIM:243150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TTC5 Achchuthan Shanmugasundram reviewed gene: TTC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 32439809; Phenotypes: TTC5-associated neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TTC37 Achchuthan Shanmugasundram reviewed gene: TTC37: Rating: GREEN; Mode of pathogenicity: ; Publications: 21120949, 20176027; Phenotypes: TRICHOHEPATOENTERIC SYNDROME, OMIM:222470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TTC25 Achchuthan Shanmugasundram reviewed gene: TTC25: Rating: GREEN; Mode of pathogenicity: ; Publications: 27486780; Phenotypes: Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TTC19 Achchuthan Shanmugasundram reviewed gene: TTC19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX III DEFICIENCY, OMIM:124000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TTC12 Achchuthan Shanmugasundram reviewed gene: TTC12: Rating: RED; Mode of pathogenicity: ; Publications: 31978331; Phenotypes: TTC12-related Primary Ciliary Dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TSPAN7 Achchuthan Shanmugasundram reviewed gene: TSPAN7: Rating: GREEN; Mode of pathogenicity: ; Publications: 10655063, 10449641; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 58, OMIM:300210; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 TSHZ1 Achchuthan Shanmugasundram reviewed gene: TSHZ1: Rating: RED; Mode of pathogenicity: ; Publications: 22152683; Phenotypes: AURAL ATRESIA, CONGENITAL, OMIM:607842; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TSHR Achchuthan Shanmugasundram reviewed gene: TSHR: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9100579, 9589691, 7528344, 9329388, 9185526, 8954020, 11095460, 12050212, 10720030, 9854118; Phenotypes: HYPERTHYROIDISM, FAMILIAL GESTATIONAL, OMIM:603373, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, OMIM:275200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 TSHB Achchuthan Shanmugasundram reviewed gene: TSHB: Rating: GREEN; Mode of pathogenicity: ; Publications: 2792087; Phenotypes: HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, OMIM:275100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TSEN54 Achchuthan Shanmugasundram reviewed gene: TSEN54: Rating: GREEN; Mode of pathogenicity: ; Publications: 34085948; Phenotypes: PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4, OMIM:316970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TSEN34 Achchuthan Shanmugasundram reviewed gene: TSEN34: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4, OMIM:316970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TSEN2 Achchuthan Shanmugasundram reviewed gene: TSEN2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4, OMIM:316970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TSEN15 Achchuthan Shanmugasundram reviewed gene: TSEN15: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27392077; Phenotypes: Pontocerebellar Hypoplasia and Progressive Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TSC2 Achchuthan Shanmugasundram reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11403047, 9302281, 12752578, 10206124, 19259131, 9463313, 8824881, 10069705, 17120248, 9361032, 8825048, 8634701, 7581393; Phenotypes: TUBEROUS SCLEROSIS TYPE 2, OMIM:613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TSC1 Achchuthan Shanmugasundram reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9242607, 10823953, 10340649, 18830229, 10053179; Phenotypes: TUBEROUS SCLEROSIS TYPE 1, OMIM:191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TRRAP Achchuthan Shanmugasundram reviewed gene: TRRAP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30827496; Phenotypes: Autism and Syndromic Intellectual Disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TRPV6 Achchuthan Shanmugasundram reviewed gene: TRPV6: Rating: GREEN; Mode of pathogenicity: ; Publications: 29861107; Phenotypes: Transient Neonatal Hyperparathyroidism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRPV4 Achchuthan Shanmugasundram reviewed gene: TRPV4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20425821, 19232556, 20577006, 21964829; Phenotypes: METATROPIC DYSPLASIA, OMIM:156530, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, OMIM:184252; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TRPV3 Achchuthan Shanmugasundram reviewed gene: TRPV3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22405088; Phenotypes: OLMSTED SYNDROME, OMIM:614594; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TRPS1 Achchuthan Shanmugasundram reviewed gene: TRPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 14560312, 11359471, 10615131; Phenotypes: TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 1, OMIM:190350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TRPM3 Achchuthan Shanmugasundram reviewed gene: TRPM3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36648066, 32439617, 34438093, 35146895, 31278393; Phenotypes: TRPM3-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TRPM1 Achchuthan Shanmugasundram reviewed gene: TRPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19878917, 20300565, 19896113, 19896109; Phenotypes: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C, OMIM:613216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRPC5 Achchuthan Shanmugasundram reviewed gene: TRPC5: Rating: RED; Mode of pathogenicity: ; Publications: 36323681; Phenotypes: TRPC5-related neurodevelopmental disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 TRNT1 Achchuthan Shanmugasundram reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25193871, 29170023, 27370603, 32592741, 33936027, 27389523, 32181284, 26494905, 33843817, 30758723; Phenotypes: Retinitis pigmentosa and erythrocytic microcytosis, OMIM:616959; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRMT10C Achchuthan Shanmugasundram reviewed gene: TRMT10C: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27132592; Phenotypes: Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRMT10A Achchuthan Shanmugasundram reviewed gene: TRMT10A: Rating: GREEN; Mode of pathogenicity: ; Publications: 26526202, 25053765, 24204302, 26535115; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68, OMIM:618302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRMT1 Achchuthan Shanmugasundram reviewed gene: TRMT1: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRIT1 Achchuthan Shanmugasundram reviewed gene: TRIT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32088416, 28185376, 32948376, 31140736, 24901367; Phenotypes: tRNA isopentenyltransferase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRIP4 Achchuthan Shanmugasundram reviewed gene: TRIP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 26924529; Phenotypes: Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRIP13 Achchuthan Shanmugasundram reviewed gene: TRIP13: Rating: GREEN; Mode of pathogenicity: ; Publications: 28553959; Phenotypes: Mosaic Variegated Aneuploidy and Wilms Tumour; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRIP12 Achchuthan Shanmugasundram reviewed gene: TRIP12: Rating: GREEN; Mode of pathogenicity: ; Publications: 27848077, 31814248, 28251352, 36747006; Phenotypes: TRIP12-related intellectual disability with/without autism spectrum disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TRIP11 Achchuthan Shanmugasundram reviewed gene: TRIP11: Rating: GREEN; Mode of pathogenicity: ; Publications: 20089971; Phenotypes: ACHONDROGENESIS TYPE 1A, OMIM:200600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRIO Achchuthan Shanmugasundram reviewed gene: TRIO: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26235986, 27418539, 28928363, 32109419; Phenotypes: INTELLECTUAL DISABILITY, OMIM:601893; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TRIM8 Achchuthan Shanmugasundram reviewed gene: TRIM8: Rating: GREEN; Mode of pathogenicity: ; Publications: 32531461, 30244534, 27346735, 33508234; Phenotypes: TRIM8-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TRIM37 Achchuthan Shanmugasundram reviewed gene: TRIM37: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULIBREY NANISM, OMIM:253250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRIM32 Achchuthan Shanmugasundram reviewed gene: TRIM32: Rating: GREEN; Mode of pathogenicity: ; Publications: 11822024, 17994549, 16606853; Phenotypes: BARDET-BIEDL SYNDROME TYPE 11, OMIM:615988, LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H, OMIM:254110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TREX1 Achchuthan Shanmugasundram reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17357087, 16845398; Phenotypes: AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, OMIM:225750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRAPPC9 Achchuthan Shanmugasundram reviewed gene: TRAPPC9: Rating: GREEN; Mode of pathogenicity: ; Publications: 20004764, 20004763, 22549410, 17120046; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 13, OMIM:613192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRAPPC4 Achchuthan Shanmugasundram reviewed gene: TRAPPC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 33011761, 32125366, 31794024; Phenotypes: Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, OMIM:618741; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRAPPC2L Achchuthan Shanmugasundram reviewed gene: TRAPPC2L: Rating: RED; Mode of pathogenicity: Other; Publications: 32843486, 30120216; Phenotypes: TRAPPC2L-related Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, OMIM:618331; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRAPPC2 Achchuthan Shanmugasundram reviewed gene: TRAPPC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, OMIM:313400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 TRAPPC12 Achchuthan Shanmugasundram reviewed gene: TRAPPC12: Rating: GREEN; Mode of pathogenicity: ; Publications: 28777934; Phenotypes: Progressive Childhood Encephalopathy and Golgi Dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRAPPC11 Achchuthan Shanmugasundram reviewed gene: TRAPPC11: Rating: GREEN; Mode of pathogenicity: ; Publications: 23830518; Phenotypes: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S, OMIM:615356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRAPPC10 Achchuthan Shanmugasundram reviewed gene: TRAPPC10: Rating: RED; Mode of pathogenicity: Other; Publications: 30167849; Phenotypes: TRAPPC10-associated intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRAIP Achchuthan Shanmugasundram reviewed gene: TRAIP: Rating: GREEN; Mode of pathogenicity: ; Publications: 26595769; Phenotypes: PRIMORDIAL DWARFISM, OMIM:615272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TRAF7 Achchuthan Shanmugasundram reviewed gene: TRAF7: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29961569; Phenotypes: Developmental Delay Congenital Anomalies and Dysmorphic Features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TRA2B Achchuthan Shanmugasundram reviewed gene: TRA2B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36549593; Phenotypes: TRA2B-associated neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TPRKB Achchuthan Shanmugasundram reviewed gene: TPRKB: Rating: RED; Mode of pathogenicity: Other; Publications: 28805828; Phenotypes: GALLOWAY-MOWAT SYNDROME 5, OMIM:617731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TPP2 Achchuthan Shanmugasundram reviewed gene: TPP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33586135, 25414442, 25525876; Phenotypes: TPP2-related immune deficiency, autoimmune disease and intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TPP1 Achchuthan Shanmugasundram reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10330339, 17959406, 12376936, 12414822, 9295267, 10665500; Phenotypes: NEURONAL CEROID LIPOFUSCINOSIS TYPE 2, OMIM:204500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TPM3 Achchuthan Shanmugasundram reviewed gene: TPM3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33768912, 24692096; Phenotypes: Nemaline/Cap myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TPM2 Achchuthan Shanmugasundram reviewed gene: TPM2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 12592607; Phenotypes: ARTHROGRYPOSIS, DISTAL, TYPE 1, OMIM:108120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TP73 Achchuthan Shanmugasundram reviewed gene: TP73: Rating: GREEN; Mode of pathogenicity: ; Publications: 34077761; Phenotypes: TP73-related ciliary dyskinesia and lissencephaly, OMIM:619466; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TP63 Achchuthan Shanmugasundram reviewed gene: TP63: Rating: GREEN; Mode of pathogenicity: ; Publications: 14684701, 15736220, 19530185, 10535733, 12939657, 11528512, 12766194, 12838557, 11462173, 9443880, 17609671, 21204238, 11159940, 16740912, 10886756, 3366140, 11929852, 19239083, 16724007, 10839977, 16114047; Phenotypes: LIMB-MAMMARY SYNDROME, OMIM:603543, ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE, OMIM:106260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TP53RK Achchuthan Shanmugasundram reviewed gene: TP53RK: Rating: GREEN; Mode of pathogenicity: ; Publications: 28805828, 30053862; Phenotypes: GALLOWAY-MOWAT SYNDROME 4, OMIM:617730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TOP3A Achchuthan Shanmugasundram reviewed gene: TOP3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 30193137; Phenotypes: Bloom Syndrome like Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TOGARAM1 Achchuthan Shanmugasundram reviewed gene: TOGARAM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32747439, 32453716; Phenotypes: TOGARAM1-related ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TOE1 Achchuthan Shanmugasundram reviewed gene: TOE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34085948, 28092684; Phenotypes: PONTOCEREBELLAR HYPOPLASIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TNRC6B Achchuthan Shanmugasundram reviewed gene: TNRC6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 32152250; Phenotypes: TNRC6B-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TNPO2 Achchuthan Shanmugasundram reviewed gene: TNPO2: Rating: RED; Mode of pathogenicity: Other; Publications: 34314705; Phenotypes: TNPO2-related intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TNNT3 Achchuthan Shanmugasundram reviewed gene: TNNT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 33977145, 29266598; Phenotypes: TNNT3-associated congenital myopathy (biallelic); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TNFRSF13B Achchuthan Shanmugasundram reviewed gene: TNFRSF13B: Rating: GREEN; Mode of pathogenicity: ; Publications: 16007086; Phenotypes: IMMUNODEFICIENCY, COMMON VARIABLE, 2, OMIM:240500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMX2 Achchuthan Shanmugasundram reviewed gene: TMX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31735293; Phenotypes: Primary microcephaly, cortical malformation and epileptic encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMTC3 Achchuthan Shanmugasundram reviewed gene: TMTC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27773428; Phenotypes: Cobblestone Lissencephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMPRSS6 Achchuthan Shanmugasundram reviewed gene: TMPRSS6: Rating: GREEN; Mode of pathogenicity: ; Publications: 19357398, 18408718, 19592582, 18596229; Phenotypes: IRON-REFRACTORY IRON DEFICIENCY ANEMIA, OMIM:206200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMEM94 Achchuthan Shanmugasundram reviewed gene: TMEM94: Rating: GREEN; Mode of pathogenicity: ; Publications: 30526868; Phenotypes: Neurodevelopmental Delay Congenital Heart Defects and Distinct Facial Dysmorphism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMEM70 Achchuthan Shanmugasundram reviewed gene: TMEM70: Rating: GREEN; Mode of pathogenicity: ; Publications: 21147908, 18953340; Phenotypes: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, OMIM:614052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMEM67 Achchuthan Shanmugasundram reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: ; Publications: 19508969, 17377820, 16415887; Phenotypes: NEPHRONOPHTHISIS TYPE 11, OMIM:613550, COACH SYNDROME, OMIM:216360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMEM63C Achchuthan Shanmugasundram reviewed gene: TMEM63C: Rating: GREEN; Mode of pathogenicity: ; Publications: 35718349; Phenotypes: TMEM63C-associated hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMEM63A Achchuthan Shanmugasundram reviewed gene: TMEM63A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31587869; Phenotypes: Transient Hypomyelination during Infancy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TMEM5 Achchuthan Shanmugasundram reviewed gene: TMEM5: Rating: GREEN; Mode of pathogenicity: ; Publications: 23519211, 23217329; Phenotypes: SEVERE COBBLESTONE LISSENCEPHALY, OMIM:615041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMEM260 Achchuthan Shanmugasundram reviewed gene: TMEM260: Rating: GREEN; Mode of pathogenicity: ; Publications: 28318500; Phenotypes: Neurodevelopmental, Cardiac, and Renal Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMEM251 Achchuthan Shanmugasundram reviewed gene: TMEM251: Rating: GREEN; Mode of pathogenicity: ; Publications: 33252156; Phenotypes: TMEM251-related skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMEM240 Achchuthan Shanmugasundram reviewed gene: TMEM240: Rating: GREEN; Mode of pathogenicity: ; Publications: 30522958, 25070513, 29687291, 32705938, 26813285; Phenotypes: TMEM240-associated spinocerebellar ataxia and intellectual disability, OMIM:607454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TMEM237 Achchuthan Shanmugasundram reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: ; Publications: 17603801, 14760273, 22152675; Phenotypes: JOUBERT SYNDROME 14, OMIM:614424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMEM222 Achchuthan Shanmugasundram reviewed gene: TMEM222: Rating: GREEN; Mode of pathogenicity: ; Publications: 33824500; Phenotypes: TMEM222-related Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities, OMIM:619470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMEM218 Achchuthan Shanmugasundram reviewed gene: TMEM218: Rating: GREEN; Mode of pathogenicity: ; Publications: 35137054, 33791682; Phenotypes: TMEM218-associated ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMEM216 Achchuthan Shanmugasundram reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20512146, 20036350; Phenotypes: JOUBERT SYNDROME 2, OMIM:608091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMEM199 Achchuthan Shanmugasundram reviewed gene: TMEM199: Rating: GREEN; Mode of pathogenicity: ; Publications: 26833330; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION, MONDO:0015286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMEM165 Achchuthan Shanmugasundram reviewed gene: TMEM165: Rating: GREEN; Mode of pathogenicity: ; Publications: 22683087; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, OMIM:614727; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMEM163 Achchuthan Shanmugasundram reviewed gene: TMEM163: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35953447, 35455965; Phenotypes: TMEM163-related hypomyelinating leukodystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TMEM147 Achchuthan Shanmugasundram reviewed gene: TMEM147: Rating: GREEN; Mode of pathogenicity: ; Publications: 36044892; Phenotypes: TMEM147-related developmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMEM135 Achchuthan Shanmugasundram reviewed gene: TMEM135: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMEM126B Achchuthan Shanmugasundram reviewed gene: TMEM126B: Rating: GREEN; Mode of pathogenicity: ; Publications: 27374774, 27374773; Phenotypes: Muscle Weakness and Isolated Complex I Deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TMEM114 Achchuthan Shanmugasundram reviewed gene: TMEM114: Rating: RED; Mode of pathogenicity: ; Publications: 17492639, 24357539; Phenotypes: CONGENITAL AND JUVENILE CATARACT, OMIM:611579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TMEM106B Achchuthan Shanmugasundram reviewed gene: TMEM106B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29444210, 29186371; Phenotypes: TMEM106B related hypomyelinating leukodystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TMCO1 Achchuthan Shanmugasundram reviewed gene: TMCO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20018682; Phenotypes: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME, OMIM:213980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TM4SF20 Achchuthan Shanmugasundram reviewed gene: TM4SF20: Rating: RED; Mode of pathogenicity: ; Publications: 23810381; Phenotypes: SPECIFIC LANGUAGE IMPAIRMENT 5, OMIM:615432; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TLL1 Achchuthan Shanmugasundram reviewed gene: TLL1: Rating: RED; Mode of pathogenicity: Other; Publications: 18830233; Phenotypes: ATRIAL SEPTAL DEFECT TYPE 6, OMIM:613087; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TLK2 Achchuthan Shanmugasundram reviewed gene: TLK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27479843, 29861108; Phenotypes: TLK2 syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TKT Achchuthan Shanmugasundram reviewed gene: TKT: Rating: GREEN; Mode of pathogenicity: ; Publications: 27259054; Phenotypes: Short Stature, Developmental Delay, and Congenital Heart Defects, OMIM:617044; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TKFC Achchuthan Shanmugasundram reviewed gene: TKFC: Rating: RED; Mode of pathogenicity: ; Publications: 32004446; Phenotypes: TKFC-related Cataracts and Multisystem Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TK2 Achchuthan Shanmugasundram reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM, OMIM:258276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TINF2 Achchuthan Shanmugasundram reviewed gene: TINF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 18252230; Phenotypes: EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE, OMIM:268130; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TIMM8A Achchuthan Shanmugasundram reviewed gene: TIMM8A: Rating: GREEN; Mode of pathogenicity: ; Publications: 31903733; Phenotypes: JENSEN SYNDROME, OMIM:311150; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 THUMPD1 Achchuthan Shanmugasundram reviewed gene: THUMPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35196516; Phenotypes: THUMPD1 neurodevelopment disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 THRA Achchuthan Shanmugasundram reviewed gene: THRA: Rating: GREEN; Mode of pathogenicity: ; Publications: 22494134, 22168587; Phenotypes: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, OMIM:614450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 THOC6 Achchuthan Shanmugasundram reviewed gene: THOC6: Rating: GREEN; Mode of pathogenicity: ; Publications: 23621916, 26739162, 27295358; Phenotypes: Beaulieu-Boycott-Innes syndrome, OMIM:613680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 THOC2 Achchuthan Shanmugasundram reviewed gene: THOC2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26166480; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 12, OMIM:300957; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 THG1L Achchuthan Shanmugasundram reviewed gene: THG1L: Rating: RED; Mode of pathogenicity: Other; Publications: 30214071, 27307223, 31168944, 33682303; Phenotypes: THG1L-associated cerebellar ataxia, OMIM:618800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 THAP1 Achchuthan Shanmugasundram reviewed gene: THAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30237473; Phenotypes: DYSTONIA 6, TORSION, OMIM:602629; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TH Achchuthan Shanmugasundram reviewed gene: TH: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 10585338, 11246459, 8817341, 9703425, 17696123, 8528210, 9732974, 7814018; Phenotypes: DOPA-RESPONSIVE DYSTONIA, OMIM:605407; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TGIF1 Achchuthan Shanmugasundram reviewed gene: TGIF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HOLOPROSENCEPHALY, OMIM:609637; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TGFBR2 Achchuthan Shanmugasundram reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Loeys-Dietz syndrome 2, OMIM:610168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TGFBR1 Achchuthan Shanmugasundram reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16791849, 16928994, 18070134, 16596670, 15731757; Phenotypes: LOEYS-DIETZ SYNDROME, OMIM:609192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TGFB3 Achchuthan Shanmugasundram reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: ; Publications: 24798638; Phenotypes: LOEYS-DIETZ SYNDROME, OMIM:615582; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TGFB2 Achchuthan Shanmugasundram reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LOEYS-DIETZ SYNDROME, TYPE 4, OMIM:614816; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TGFB1 Achchuthan Shanmugasundram reviewed gene: TGFB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11062463, 15103729, 10973241; Phenotypes: CAMURATI-ENGELMANN DISEASE, OMIM:131300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TGDS Achchuthan Shanmugasundram reviewed gene: TGDS: Rating: GREEN; Mode of pathogenicity: ; Publications: 25480037; Phenotypes: CATEL-MANZKE SYNDROME, OMIM:616145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TFRC Achchuthan Shanmugasundram reviewed gene: TFRC: Rating: RED; Mode of pathogenicity: Other; Publications: 26642240; Phenotypes: Combined immunodeficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TFE3 Achchuthan Shanmugasundram reviewed gene: TFE3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30595499, 33057194, 32409512, 31833172; Phenotypes: TFE3-related intellectual disability with pigmentary mosaicism, Intellectual disability with pigmentary mosaicism and storage disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 TFAP2B Achchuthan Shanmugasundram reviewed gene: TFAP2B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 10802654, 11505339, 7645594; Phenotypes: CHAR SYNDROME, OMIM:169100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TFAP2A Achchuthan Shanmugasundram reviewed gene: TFAP2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31490282; Phenotypes: BRANCHIOOCULOFACIAL SYNDROME, OMIM:113620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TET3 Achchuthan Shanmugasundram reviewed gene: TET3: Rating: GREEN; Mode of pathogenicity: ; Publications: 31928709; Phenotypes: TET3 DNA Demethylation Disorder biallelic, TET3 DNA Demethylation Disorder monoallelic; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 TERT Achchuthan Shanmugasundram reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17785587; Phenotypes: Dyskeratosis congenita, autosomal recessive 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TERC Achchuthan Shanmugasundram reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: ; Publications: 12090986; Phenotypes: Dyskeratosis congenita, autosomal dominant 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TELO2 Achchuthan Shanmugasundram reviewed gene: TELO2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27132593, 36797513, 28944240; Phenotypes: TELO2 Syndromic Intellectual Disability Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TEK Achchuthan Shanmugasundram reviewed gene: TEK: Rating: GREEN; Mode of pathogenicity: Other; Publications: 7833915, 10369874, 19888299; Phenotypes: VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, OMIM:600195; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TECPR2 Achchuthan Shanmugasundram reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23176824; Phenotypes: HEREDITARY SPASTIC PARAPARESIS, OMIM:615031; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TDRD7 Achchuthan Shanmugasundram reviewed gene: TDRD7: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: CATARACT CONGENITAL AUTOSOMAL RECESSIVE TYPE 4, OMIM:613887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TCTN3 Achchuthan Shanmugasundram reviewed gene: TCTN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 22883145; Phenotypes: MOHR-MAJEWSKI SYNDROME, OMIM:258860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TCTN2 Achchuthan Shanmugasundram reviewed gene: TCTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: JOUBERT SYNDROME AND RELATED DISORDERS, OMIM:194263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TCTN1 Achchuthan Shanmugasundram reviewed gene: TCTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: JOUBERT SYNDROME AND RELATED DISORDERS, OMIM:194263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TCOF1 Achchuthan Shanmugasundram reviewed gene: TCOF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15039977, 14598341, 12114482, 9096354, 15214011, 11013442, 8563749; Phenotypes: TREACHER COLLINS SYNDROME TYPE 1, OMIM:154500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TCN2 Achchuthan Shanmugasundram reviewed gene: TCN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 7849710; Phenotypes: Transcobalamin II deficiency, OMIM:275350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TCF7L2 Achchuthan Shanmugasundram reviewed gene: TCF7L2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34003604, 33057194; Phenotypes: TCF7L2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TCF4 Achchuthan Shanmugasundram reviewed gene: TCF4: Rating: GREEN; Mode of pathogenicity: ; Publications: 29604340, 17436254, 22670824, 20184619, 18728071, 19938247, 17436255, 22045651, 20205897, 27132474, 30848346, 29695756, 23528641, 19235238; Phenotypes: PITT-HOPKINS SYNDROME, OMIM:610954; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TCF20 Achchuthan Shanmugasundram reviewed gene: TCF20: Rating: GREEN; Mode of pathogenicity: ; Publications: 30819258, 25228304, 30739909, 28135719, 27436265; Phenotypes: TCF20 syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TCF12 Achchuthan Shanmugasundram reviewed gene: TCF12: Rating: GREEN; Mode of pathogenicity: ; Publications: 23354436, 33004838; Phenotypes: TCF12-related neurodevelopmental disorder with coronal craniosynostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TCEAL1 Achchuthan Shanmugasundram reviewed gene: TCEAL1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36368327; Phenotypes: TCEAL1-related neurodevelopmental disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 TBXAS1 Achchuthan Shanmugasundram reviewed gene: TBXAS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: GHOSAL HEMATODIAPHYSEAL SYNDROME, OMIM:231095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TBX5 Achchuthan Shanmugasundram reviewed gene: TBX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HOLT-ORAM SYNDROME, OMIM:142900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TBX4 Achchuthan Shanmugasundram reviewed gene: TBX4: Rating: GREEN; Mode of pathogenicity: ; Publications: 11303519, 15106123, 31761294; Phenotypes: SMALL PATELLA SYNDROME, OMIM:147891, Posterior Amelia with Pelvic and Pulmonary Hypoplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TBX3 Achchuthan Shanmugasundram reviewed gene: TBX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 9207801, 19938096, 12668170, 12116211; Phenotypes: ULNAR-MAMMARY SYNDROME, OMIM:181450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TBX22 Achchuthan Shanmugasundram reviewed gene: TBX22: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CLEFT PALATE, X-LINKED, OMIM:304011; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 TBX20 Achchuthan Shanmugasundram reviewed gene: TBX20: Rating: GREEN; Mode of pathogenicity: ; Publications: 19762328, 17668378; Phenotypes: ATRIAL SEPTAL DEFECT TYPE 4, OMIM:611363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TBX18 Achchuthan Shanmugasundram reviewed gene: TBX18: Rating: GREEN; Mode of pathogenicity: ; Publications: 26235987; Phenotypes: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2, OMIM:143400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TBX15 Achchuthan Shanmugasundram reviewed gene: TBX15: Rating: GREEN; Mode of pathogenicity: ; Publications: 24039145, 19068278; Phenotypes: Cousin Syndrome, Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature, OMIM:260660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TBX1 Achchuthan Shanmugasundram reviewed gene: TBX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 14585638; Phenotypes: 22Q11.2 DELETION SYNDROME, OMIM:188400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TBR1 Achchuthan Shanmugasundram reviewed gene: TBR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30268909, 23160955, 25232744, 32005960; Phenotypes: AUTISM, OMIM:209850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TBL1XR1 Achchuthan Shanmugasundram reviewed gene: TBL1XR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25425123, 25102098, 29777588, 30365874, 26769062, 28687524, 23160955; Phenotypes: Pierpont syndrome, OMIM:602342, Intellectual disability with autism spectrum disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TBCK Achchuthan Shanmugasundram reviewed gene: TBCK: Rating: GREEN; Mode of pathogenicity: ; Publications: 27748029, 27040691, 27040692; Phenotypes: Severe Infantile Syndromic Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TBCE Achchuthan Shanmugasundram reviewed gene: TBCE: Rating: GREEN; Mode of pathogenicity: ; Publications: 12389028, 27666369; Phenotypes: Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TBCD Achchuthan Shanmugasundram reviewed gene: TBCD: Rating: GREEN; Mode of pathogenicity: ; Publications: 27666374, 27666370; Phenotypes: Early-Onset Neurodegenerative Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TBC1D2B Achchuthan Shanmugasundram reviewed gene: TBC1D2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 36029130, 32623794; Phenotypes: TBC1D2B-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TBC1D24 Achchuthan Shanmugasundram reviewed gene: TBC1D24: Rating: GREEN; Mode of pathogenicity: ; Publications: 20727515, 20797691, 10741954, 24291220; Phenotypes: MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL, OMIM:605021, DOORS SYNDROME, OMIM:220500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TBC1D23 Achchuthan Shanmugasundram reviewed gene: TBC1D23: Rating: GREEN; Mode of pathogenicity: ; Publications: 28823706, 28823707; Phenotypes: Non-degenerative Pontocerebellar Hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TBC1D20 Achchuthan Shanmugasundram reviewed gene: TBC1D20: Rating: GREEN; Mode of pathogenicity: ; Publications: 24239381; Phenotypes: Warburg micro syndrome 4, OMIM:615663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TAZ Achchuthan Shanmugasundram reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: ; Publications: 8630491; Phenotypes: BARTH SYNDROME, OMIM:302060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 TAT Achchuthan Shanmugasundram reviewed gene: TAT: Rating: GREEN; Mode of pathogenicity: ; Publications: 1357662; Phenotypes: TYROSINEMIA TYPE 2, OMIM:276600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TASP1 Achchuthan Shanmugasundram reviewed gene: TASP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35512351, 31209944; Phenotypes: TASP1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TARS Achchuthan Shanmugasundram reviewed gene: TARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 31374204; Phenotypes: Non-photosensitive trichothiodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TAPT1 Achchuthan Shanmugasundram reviewed gene: TAPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26365339; Phenotypes: COMPLEX LETHAL OSTEOCHONDRODYSPLASIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TAOK1 Achchuthan Shanmugasundram reviewed gene: TAOK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31230721, 33565190; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TANGO2 Achchuthan Shanmugasundram reviewed gene: TANGO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26805782, 26805781; Phenotypes: Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TANC2 Achchuthan Shanmugasundram reviewed gene: TANC2: Rating: RED; Mode of pathogenicity: ; Publications: 31616000; Phenotypes: TANC2-related neurodevelopmental and psychiatric disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TAF8 Achchuthan Shanmugasundram reviewed gene: TAF8: Rating: GREEN; Mode of pathogenicity: ; Publications: 35759269; Phenotypes: TAF8-associated neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TAF4 Achchuthan Shanmugasundram reviewed gene: TAF4: Rating: RED; Mode of pathogenicity: ; Publications: 35904126; Phenotypes: TAF4-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 TAF2 Achchuthan Shanmugasundram reviewed gene: TAF2: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TAF13 Achchuthan Shanmugasundram reviewed gene: TAF13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28257693; Phenotypes: Autosomal-Recessive Intellectual Disability and Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TAF1 Achchuthan Shanmugasundram reviewed gene: TAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26637982; Phenotypes: Dysmorphic Features, Intellectual Disability, and Neurological Manifestations; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 TACR3 Achchuthan Shanmugasundram reviewed gene: TACR3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19079066; Phenotypes: HYPOGONADOTROPIC HYPOGONADISM, OMIM:146110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TACO1 Achchuthan Shanmugasundram reviewed gene: TACO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY, OMIM:220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TAC3 Achchuthan Shanmugasundram reviewed gene: TAC3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19079066; Phenotypes: HYPOGONADOTROPIC HYPOGONADISM, OMIM:146110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 TAB2 Achchuthan Shanmugasundram reviewed gene: TAB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27479907, 20493459; Phenotypes: CONGENITAL HEART DISEASE, NONSYNDROMIC, 2, OMIM:612863; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SZT2 Achchuthan Shanmugasundram reviewed gene: SZT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23932106; Phenotypes: INFANTILE ENCEPHALOPATHY WITH EPILEPSY AND DYSMORPHIC CORPUS CALLOSUM; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SYT2 Achchuthan Shanmugasundram reviewed gene: SYT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32250532, 32776697; Phenotypes: SYT2-related congenital onset presynaptic myasthenic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SYT1 Achchuthan Shanmugasundram reviewed gene: SYT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30107533, 25705886; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SYP Achchuthan Shanmugasundram reviewed gene: SYP: Rating: GREEN; Mode of pathogenicity: ; Publications: 19377476; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED SYP-RELATED, OMIM:300802; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 SYNGAP1 Achchuthan Shanmugasundram reviewed gene: SYNGAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30685520, 26110312, 23141534, 26079862, 23161826, 30572772, 21237447, 19196676, 23033978, 28721930, 30800045, 28576131, 26989088, 31395010, 30556619, 23708187, 29381230; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT TYPE 5, OMIM:612621; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SYNE1 Achchuthan Shanmugasundram reviewed gene: SYNE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, OMIM:610743; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SYNCRIP Achchuthan Shanmugasundram reviewed gene: SYNCRIP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: SYNCRIP-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SYN1 Achchuthan Shanmugasundram reviewed gene: SYN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, OMIM:300491; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 SUZ12 Achchuthan Shanmugasundram reviewed gene: SUZ12: Rating: GREEN; Mode of pathogenicity: ; Publications: 28229514, 30019515, 31736240; Phenotypes: Weaver-like overgrowth syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SURF1 Achchuthan Shanmugasundram reviewed gene: SURF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LEIGH SYNDROME, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SUPT16H Achchuthan Shanmugasundram reviewed gene: SUPT16H: Rating: RED; Mode of pathogenicity: Other; Publications: 31924697; Phenotypes: SUPT16H-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SUOX Achchuthan Shanmugasundram reviewed gene: SUOX: Rating: GREEN; Mode of pathogenicity: ; Publications: 34117075, 33405344, 34025712, 12112661, 15952210; Phenotypes: Sulfite oxidase deficiency, OMIM:272300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SUMO1 Achchuthan Shanmugasundram reviewed gene: SUMO1: Rating: RED; Mode of pathogenicity: ; Publications: 16990542; Phenotypes: CLEFT LIP +/- CLEFT PALATE, OMIM:608874; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SUMF1 Achchuthan Shanmugasundram reviewed gene: SUMF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21224894, 12757705, 12757706; Phenotypes: SULFATIDOSIS, JUVENILE, AUSTIN TYPE, OMIM:272200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SUFU Achchuthan Shanmugasundram reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: ; Publications: 28965847, 34675124, 33024317; Phenotypes: Joubert Syndrome with Cranio-facial and Skeletal Defects, SUFU-related Joubert and congenital ocular motor apraxia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 SUCLG1 Achchuthan Shanmugasundram reviewed gene: SUCLG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FATAL INFANTILE LACTIC ACIDOSIS, OMIM:308078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 STXBP1 Achchuthan Shanmugasundram reviewed gene: STXBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18469812, 29929108, 27069701, 25714420, 30654231, 21770924, 31387522, 24315539, 29544889, 29264391, 26212315, 32105008, 26384463, 19557857, 24170257, 29718889, 24095819, 27184330, 28944233, 29896790, 20876469, 26865513, 24623842, 31344879, 21204804, 20887364, 22596016, 25418441, 23533165, 24189369, 26514728, 23763664, 21762454, 23409955, 21364700, 21062273, 23531706, 25631041; Phenotypes: EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 4, OMIM:612164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 STX1B Achchuthan Shanmugasundram reviewed gene: STX1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 25362483; Phenotypes: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9, OMIM:616172; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 STT3B Achchuthan Shanmugasundram reviewed gene: STT3B: Rating: RED; Mode of pathogenicity: ; Publications: 23842455; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, OMIM:615597; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 STT3A Achchuthan Shanmugasundram reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23842455, 34653363; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, OMIM:615596, STT3A-related type I congenital disorder of glycosylation with neuromusculoskeletal disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 STS Achchuthan Shanmugasundram reviewed gene: STS: Rating: GREEN; Mode of pathogenicity: ; Publications: 1539590, 9252398, 3032454; Phenotypes: ICHTHYOSIS, X-LINKED, OMIM:308100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 STRADA Achchuthan Shanmugasundram reviewed gene: STRADA: Rating: GREEN; Mode of pathogenicity: ; Publications: 27170158, 33247513, 17522105, 30311510; Phenotypes: Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 STRA6 Achchuthan Shanmugasundram reviewed gene: STRA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 19839040, 11857549, 17273977, 21901792, 17503335; Phenotypes: MICROPHTHALMIA SYNDROMIC TYPE 9, OMIM:601186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 STN1 Achchuthan Shanmugasundram reviewed gene: STN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27432940; Phenotypes: Cerebroretinal microangiopathy with calcifications and cysts 2, OMIM:617341; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 STIM1 Achchuthan Shanmugasundram reviewed gene: STIM1: Rating: RED; Mode of pathogenicity: Other; Publications: 23332920; Phenotypes: TUBULAR-AGGREGATE MYOPATHY, OMIM:160565; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 STIL Achchuthan Shanmugasundram reviewed gene: STIL: Rating: GREEN; Mode of pathogenicity: ; Publications: 19215732; Phenotypes: MICROCEPHALY PRIMARY TYPE 7, OMIM:612703; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 STAT5B Achchuthan Shanmugasundram reviewed gene: STAT5B: Rating: GREEN; Mode of pathogenicity: ; Publications: 13679528; Phenotypes: GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY, OMIM:245590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 STAT2 Achchuthan Shanmugasundram reviewed gene: STAT2: Rating: RED; Mode of pathogenicity: ; Publications: 26408653, 26122121; Phenotypes: Recessive gain of function causing increased interferon signalling, Viral induced severe multiorgan dysfunction associated with impaired mitochondrial fission; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 STAR Achchuthan Shanmugasundram reviewed gene: STAR: Rating: GREEN; Mode of pathogenicity: ; Publications: 8634702, 8948562, 16968793, 9141542, 7892608, 15546900, 14764819, 10566637, 10323391; Phenotypes: CHOLESTEROL DESMOLASE-DEFICIENT CONGENITAL ADRENAL HYPERPLASIA, OMIM:201710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 STAMBP Achchuthan Shanmugasundram reviewed gene: STAMBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 23542699; Phenotypes: MICROCEPHALY CAPILLARY MALFORMATION (MIC-CAP) SYNDROME, OMIM:614261; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 STAG2 Achchuthan Shanmugasundram reviewed gene: STAG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30158690, 29263825, 28296084; Phenotypes: STAG2-related developmental delay with microcephaly and congenital anomalies; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 STAG1 Achchuthan Shanmugasundram reviewed gene: STAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30158690, 28119487; Phenotypes: STAG1 syndromic intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 STAC3 Achchuthan Shanmugasundram reviewed gene: STAC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28777491, 33820833, 30168660, 33060286, 28411587; Phenotypes: STAC3-associated congenital myopathy and malignant hyperthermia, OMIM:255995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ST3GAL5 Achchuthan Shanmugasundram reviewed gene: ST3GAL5: Rating: GREEN; Mode of pathogenicity: ; Publications: 30691927, 24026681, 27232954, 15502825, 30185102; Phenotypes: AMISH INFANTILE EPILEPSY SYNDROME, OMIM:609056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ST3GAL3 Achchuthan Shanmugasundram reviewed gene: ST3GAL3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21907012, 17120046; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 12, OMIM:611090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ST14 Achchuthan Shanmugasundram reviewed gene: ST14: Rating: GREEN; Mode of pathogenicity: Other; Publications: 18445049, 17273967; Phenotypes: ICHTHYOSIS AUTOSOMAL RECESSIVE WITH HYPOTRICHOSIS, OMIM:610765; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SRY Achchuthan Shanmugasundram reviewed gene: SRY: Rating: GREEN; Mode of pathogenicity: ; Publications: 8105086, 1639410, 2247151, 9150734, 1956279, 1339396, 7987333, 2247149, 7985018, 1483689, 9443877, 10852465, 9521592, 1619028, 1570829, 12107262; Phenotypes: 46XY SEX REVERSAL 1, OMIM:400045; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 SRSF1 Achchuthan Shanmugasundram reviewed gene: SRSF1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: SRSF1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SRRM2 Achchuthan Shanmugasundram reviewed gene: SRRM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33057194, 35567594; Phenotypes: SRRM2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SRPX2 Achchuthan Shanmugasundram reviewed gene: SRPX2: Rating: RED; Mode of pathogenicity: Other; Publications: 16497722; Phenotypes: BILATERAL PERISYLVIAN POLYMICROGYRIA, OMIM:300388; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 SRP54 Achchuthan Shanmugasundram reviewed gene: SRP54: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28972538; Phenotypes: Syndromic neutropenia with Shwachman-Diamond-like features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SRGAP3 Achchuthan Shanmugasundram reviewed gene: SRGAP3: Rating: RED; Mode of pathogenicity: ; Publications: 12195014; Phenotypes: SLIT-ROBO RHO GTPASE-ACTIVATING PROTEIN 3, OMIM:606525; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SRD5A3 Achchuthan Shanmugasundram reviewed gene: SRD5A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 20637498, 30019980, 18271001; Phenotypes: CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SRCAP Achchuthan Shanmugasundram reviewed gene: SRCAP: Rating: GREEN; Mode of pathogenicity: ; Publications: 33909990, 23621943, 30425916, 22265015, 30304910, 24375913, 23763483, 22965468, 23165645, 25433523, 26788936; Phenotypes: FLOATING-HARBOR SYNDROME, OMIM:136140, SRCAP-related Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SPTLC2 Achchuthan Shanmugasundram reviewed gene: SPTLC2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, OMIM:613640; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SPTBN4 Achchuthan Shanmugasundram reviewed gene: SPTBN4: Rating: GREEN; Mode of pathogenicity: ; Publications: 28540413, 29861105, 28940097, 31857255, 31230720; Phenotypes: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS, OMIM:617519; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SPTBN2 Achchuthan Shanmugasundram reviewed gene: SPTBN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29795474, 22914369, 25981959; Phenotypes: SCA14, Infantile ataxia with oculomotor and pyramidal signs; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 SPTBN1 Achchuthan Shanmugasundram reviewed gene: SPTBN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34211179, 33847457; Phenotypes: SPTBN1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SPTAN1 Achchuthan Shanmugasundram reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36331550, 34590414, 22258530, 20493457, 29050398; Phenotypes: SPTAN1-related neurodevelopmental disorder with epilepsy and spastic paraplegia, OMIM:613477; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SPRY1 Achchuthan Shanmugasundram reviewed gene: SPRY1: Rating: RED; Mode of pathogenicity: Other; Publications: 36543535; Phenotypes: SPRY1-associated craniosynostosis with inner ear and renal anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SPRTN Achchuthan Shanmugasundram reviewed gene: SPRTN: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: PROGEROID SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SPRED2 Achchuthan Shanmugasundram reviewed gene: SPRED2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34626534; Phenotypes: SPRED2-related Noonan syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SPRED1 Achchuthan Shanmugasundram reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17704776, 19443465, 21649642, 19366998; Phenotypes: LEGIUS SYNDROME, OMIM:611431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SPR Achchuthan Shanmugasundram reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: ; Publications: 11443547; Phenotypes: DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY, OMIM:612716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SPOP Achchuthan Shanmugasundram reviewed gene: SPOP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32109420; Phenotypes: SPOP-related Neurodevelopmental Disorder, gain of function, SPOP-related Neurodevelopmental Disorder, dominant negative; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SPG11 Achchuthan Shanmugasundram reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: 19194956, 17322883, 18067136, 17717710; Phenotypes: SPASTIC PARAPLEGIA-11, OMIM:604360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SPEN Achchuthan Shanmugasundram reviewed gene: SPEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 33596411, 33057194; Phenotypes: SPEN-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SPEG Achchuthan Shanmugasundram reviewed gene: SPEG: Rating: GREEN; Mode of pathogenicity: ; Publications: 25087613; Phenotypes: CENTRONUCLEAR MYOPATHY WITH DILATED CARDIOMYOPATHY, OMIM:615959; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SPECC1L Achchuthan Shanmugasundram reviewed gene: SPECC1L: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21703590, 2541274; Phenotypes: FACIAL CLEFTING, OBLIQUE, 1, OMIM:600251; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SPATA5L1 Achchuthan Shanmugasundram reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34626583; Phenotypes: SPATA5L1-associated sensorineural hearing loss and intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SPATA5 Achchuthan Shanmugasundram reviewed gene: SPATA5: Rating: GREEN; Mode of pathogenicity: ; Publications: 26299366; Phenotypes: EPILEPSY, HEARING LOSS, AND INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME, OMIM:616577; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SPAST Achchuthan Shanmugasundram reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: SPAST-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SPARC Achchuthan Shanmugasundram reviewed gene: SPARC: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26027498; Phenotypes: OSTEOGENESIS IMPERFECTA, TYPE XVII, OMIM:616507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SPAG1 Achchuthan Shanmugasundram reviewed gene: SPAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24055112; Phenotypes: PRIMARY CILIARY DYSKINESIA ASSOCIATED WITH DEFECTIVE OUTER AND INNER DYNEIN ARMS.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SOX9 Achchuthan Shanmugasundram reviewed gene: SOX9: Rating: GREEN; Mode of pathogenicity: ; Publications: 11323423, 11754051, 10951468, 12783851, 8894698, 7990924, 7485151, 8001137, 19449405, 11076045; Phenotypes: PIERRE ROBIN SEQUENCE, CAMPOMELIC DYSPLASIA, OMIM:114290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SOX6 Achchuthan Shanmugasundram reviewed gene: SOX6: Rating: GREEN; Mode of pathogenicity: ; Publications: 32442410; Phenotypes: SOX6-related neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SOX5 Achchuthan Shanmugasundram reviewed gene: SOX5: Rating: GREEN; Mode of pathogenicity: ; Publications: 22290657, 36861937; Phenotypes: 12P12.5 INTRAGENIC DELETIONS ASSOCIATED WITH INTELLECTUAL DISABILITY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SOX4 Achchuthan Shanmugasundram reviewed gene: SOX4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35232796, 30661772; Phenotypes: Neurodevelopmental Disease Associated with Mild Dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SOX3 Achchuthan Shanmugasundram reviewed gene: SOX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 8826446; Phenotypes: SEX REVERSAL TYPE 3, OMIM:300833, INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED WITH ISOLATED GROWTH HORMONE DEFICIENCY, OMIM:300123; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 SOX2 Achchuthan Shanmugasundram reviewed gene: SOX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16145681, 15389708, 21326281, 18831064, 16283891, 12002146, 12612584, 15346919, 17219395, 15812812, 16932809, 16543359, 21919124, 19254784, 16470798; Phenotypes: MICROPHTHALMIA SYNDROMIC TYPE 3, OMIM:206900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SOX17 Achchuthan Shanmugasundram reviewed gene: SOX17: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20960469; Phenotypes: VESICOURETERAL REFLUX TYPE 3, OMIM:613674; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SOX11 Achchuthan Shanmugasundram reviewed gene: SOX11: Rating: GREEN; Mode of pathogenicity: ; Publications: 35341651, 26543203, 24886874; Phenotypes: SOX11-related neurodevelopmental disorder, OMIM:615866; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SOX10 Achchuthan Shanmugasundram reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: ; Publications: 18627047, 8911608, 21965087, 11026454, 10482261, 18348274, 23643381, 12447940, 9462749, 18348267, 19764030, 17999358, 19208381, 10077527, 20478267, 10762540; Phenotypes: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE, OMIM:609136, WAARDENBURG SYNDROME TYPE 2E, OMIM:611584, YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME, OMIM:601706; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SOS2 Achchuthan Shanmugasundram reviewed gene: SOS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26173643, 25795793, 32788663; Phenotypes: SOS-2 associated Noonan syndrome, OMIM:616559; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SOS1 Achchuthan Shanmugasundram reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19438935, 17143285, 18925667; Phenotypes: NOONAN SYNDROME 4, OMIM:610733; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SON Achchuthan Shanmugasundram reviewed gene: SON: Rating: GREEN; Mode of pathogenicity: ; Publications: 27545676, 27545680; Phenotypes: Intellectual Disability, Congenital Malformations, and Failure to Thrive; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SOBP Achchuthan Shanmugasundram reviewed gene: SOBP: Rating: RED; Mode of pathogenicity: ; Publications: 21035105; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER-ANTERIOR MAXILLARY PROTRUSION-STRABISMUS, OMIM:613671; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SNX3 Achchuthan Shanmugasundram reviewed gene: SNX3: Rating: RED; Mode of pathogenicity: ; Publications: 12471201; Phenotypes: MICROPHTHALMIA SYNDROMIC TYPE 8, OMIM:601349; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SNX14 Achchuthan Shanmugasundram reviewed gene: SNX14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SNRPE Achchuthan Shanmugasundram reviewed gene: SNRPE: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36814386, 23246290, 9621144; Phenotypes: AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX, OMIM:615059; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SNRPB Achchuthan Shanmugasundram reviewed gene: SNRPB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CEREBRO-COSTO-MANDIBULAR SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SNORD118 Achchuthan Shanmugasundram reviewed gene: SNORD118: Rating: GREEN; Mode of pathogenicity: ; Publications: 27793341, 27571260; Phenotypes: Leukoencephalopathy with cerebral calcification & cysts, OMIM:614561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SNIP1 Achchuthan Shanmugasundram reviewed gene: SNIP1: Rating: RED; Mode of pathogenicity: Other; Publications: 22279524; Phenotypes: SYMPTOMATIC EPILEPSY AND SKULL DYSPLASIA, OMIM:614501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SNAP29 Achchuthan Shanmugasundram reviewed gene: SNAP29: Rating: GREEN; Mode of pathogenicity: ; Publications: 15968592, 21073448; Phenotypes: CEDNIK SYNDROME, OMIM:609528; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SNAP25 Achchuthan Shanmugasundram reviewed gene: SNAP25: Rating: GREEN; Mode of pathogenicity: ; Publications: 33299146, 29100083; Phenotypes: Epilepsy and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SMS Achchuthan Shanmugasundram reviewed gene: SMS: Rating: GREEN; Mode of pathogenicity: ; Publications: 19206178, 5823961, 18550699; Phenotypes: SNYDER-ROBINSON SYNDROME, OMIM:309583; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 SMPD4 Achchuthan Shanmugasundram reviewed gene: SMPD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 31495489; Phenotypes: Developmental Disorder with Microcephaly and Congenital Arthrogryposis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SMPD1 Achchuthan Shanmugasundram reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19405096, 2023926, 8401540, 12607113, 9266408, 12369017, 1301192, 1718266, 1885770, 8051942, 1391960; Phenotypes: NIEMANN-PICK DISEASE TYPE A, OMIM:257200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SMOC2 Achchuthan Shanmugasundram reviewed gene: SMOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22152679; Phenotypes: DENTIN DYSPLASIA, TYPE I, WITH MICRODONTIA AND MISSHAPEN TEETH, OMIM:125400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SMOC1 Achchuthan Shanmugasundram reviewed gene: SMOC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19208380, 21194678; Phenotypes: OPHTHALMOACROMELIC SYNDROME, OMIM:206920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SMO Achchuthan Shanmugasundram reviewed gene: SMO: Rating: GREEN; Mode of pathogenicity: ; Publications: 32413283; Phenotypes: Curry-Jones Syndrome, OMIM:601707, SMO-related developmental disorder; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 SMG9 Achchuthan Shanmugasundram reviewed gene: SMG9: Rating: GREEN; Mode of pathogenicity: ; Publications: 27018474, 35087184; Phenotypes: SMG9 Multiple Congenital Anomaly Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SMG8 Achchuthan Shanmugasundram reviewed gene: SMG8: Rating: GREEN; Mode of pathogenicity: ; Publications: 33242396; Phenotypes: SMG8-related Developmental Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SMCHD1 Achchuthan Shanmugasundram reviewed gene: SMCHD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28067909, 28067911; Phenotypes: Isolated Arhinia/Bosma Arhinia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SMC5 Achchuthan Shanmugasundram reviewed gene: SMC5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36333305; Phenotypes: SMC5-related developmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SMC3 Achchuthan Shanmugasundram reviewed gene: SMC3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17273969, 25125236, 25655089, 20358602; Phenotypes: CORNELIA DE LANGE SYNDROME TYPE 3, OMIM:610759; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SMC1A Achchuthan Shanmugasundram reviewed gene: SMC1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 17273969, 28548707, 24124034, 28102598, 31185419, 22106055, 26358754, 20635401, 28677859, 16604071, 31098032, 28166369, 26386245, 26354354, 26752331; Phenotypes: CORNELIA DE LANGE SYNDROME TYPE 2, OMIM:300590, SMC1A-related Epileptic Encephalopathy; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 SMARCE1 Achchuthan Shanmugasundram reviewed gene: SMARCE1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22426308; Phenotypes: COFFIN SIRIS, OMIM:135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SMARCD1 Achchuthan Shanmugasundram reviewed gene: SMARCD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30879640; Phenotypes: SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SMARCC2 Achchuthan Shanmugasundram reviewed gene: SMARCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30580808; Phenotypes: Syndromic Intellectual Disability and Developmental Delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SMARCB1 Achchuthan Shanmugasundram reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9671307, 22726846, 25249037, 23906836, 22426308, 10739763, 10521299, 23929686, 23815551, 29907796; Phenotypes: EHMT1-like SYNDROME, RHABDOID PREDISPOSITION SYNDROME 1, OMIM:609322; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SMARCAL1 Achchuthan Shanmugasundram reviewed gene: SMARCAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11799392, 15523612; Phenotypes: SCHIMKE IMMUNOOSSEOUS DYSPLASIA, OMIM:242900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SMARCA4 Achchuthan Shanmugasundram reviewed gene: SMARCA4: Rating: GREEN; Mode of pathogenicity: ; Publications: 20137775; Phenotypes: COFFIN SIRIS, OMIM:135900, RHABDOID TUMOR PREDISPOSITION SYNDROME 2, OMIM:613325; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SMARCA2 Achchuthan Shanmugasundram reviewed gene: SMARCA2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22366787, 22426308, 32694869; Phenotypes: NICOLAIDES-BARAITSER SYNDROME, OMIM:601358; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SMAD6 Achchuthan Shanmugasundram reviewed gene: SMAD6: Rating: RED; Mode of pathogenicity: ; Publications: 27606499, 28808027; Phenotypes: Non-syndromic craniosynostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SMAD4 Achchuthan Shanmugasundram reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050, MYHRE SYNDROME, OMIM:139210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SMAD3 Achchuthan Shanmugasundram reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: ; Publications: 29392890, 21217753; Phenotypes: SMAD3-RELATED LOEYS-DIETZ SYNDROME, OMIM:319643; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SMAD2 Achchuthan Shanmugasundram reviewed gene: SMAD2: Rating: RED; Mode of pathogenicity: ; Publications: 30157302, 23665959; Phenotypes: CONGENITAL HEART DISEASE; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SLX4 Achchuthan Shanmugasundram reviewed gene: SLX4: Rating: GREEN; Mode of pathogenicity: ; Publications: 21240275, 21240277; Phenotypes: FANCONI ANEMIA COMPLEMENTATION GROUP P, OMIM:613951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLIRP Achchuthan Shanmugasundram reviewed gene: SLIRP: Rating: RED; Mode of pathogenicity: ; Publications: 34426662; Phenotypes: SLIRP-related mitochondrial encephalomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLF2 Achchuthan Shanmugasundram reviewed gene: SLF2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36333305; Phenotypes: SLF2-related developmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC9A9 Achchuthan Shanmugasundram reviewed gene: SLC9A9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: SUSCEPTIBILITY TO AUTISM TYPE 16, OMIM:613410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SLC9A7 Achchuthan Shanmugasundram reviewed gene: SLC9A7: Rating: RED; Mode of pathogenicity: Other; Publications: 30335141; Phenotypes: Intellectual developmental disorder, X-linked 108, OMIM:301024; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 SLC9A6 Achchuthan Shanmugasundram reviewed gene: SLC9A6: Rating: GREEN; Mode of pathogenicity: ; Publications: 20395263, 10528855, 18342287; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED CHRISTIANSON TYPE, OMIM:300243; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 SLC6A9 Achchuthan Shanmugasundram reviewed gene: SLC6A9: Rating: GREEN; Mode of pathogenicity: ; Publications: 27773429; Phenotypes: Glycine Encephalopathy with Arthrogryposis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC6A8 Achchuthan Shanmugasundram reviewed gene: SLC6A8: Rating: GREEN; Mode of pathogenicity: ; Publications: 16086185, 11326334, 16738945, 12210795, 17101918, 11898126, 15154114; Phenotypes: X-LINKED CREATINE DEFICIENCY SYNDROME, OMIM:300352; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 SLC6A5 Achchuthan Shanmugasundram reviewed gene: SLC6A5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HYPEREKPLEXIA, OMIM:149400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC6A3 Achchuthan Shanmugasundram reviewed gene: SLC6A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PARKINSONISM-DYSTONIA, INFANTILE, OMIM:319029; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC6A17 Achchuthan Shanmugasundram reviewed gene: SLC6A17: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25704603; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 48, OMIM:616269; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC6A1 Achchuthan Shanmugasundram reviewed gene: SLC6A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31176687, 34006619, 25865495, 29961511, 29315614, 27600546, 30132828, 31516630; Phenotypes: EPILEPSY WITH MYOCLONIC-ATONIC SEIZURES; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SLC5A7 Achchuthan Shanmugasundram reviewed gene: SLC5A7: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27569547; Phenotypes: Congenital Myasthenic Syndrome with Episodic Apnea; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC5A6 Achchuthan Shanmugasundram reviewed gene: SLC5A6: Rating: GREEN; Mode of pathogenicity: ; Publications: 27904971, 31754459, 35013551; Phenotypes: SLC5A6-related Neurodevelopmental Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC5A5 Achchuthan Shanmugasundram reviewed gene: SLC5A5: Rating: GREEN; Mode of pathogenicity: ; Publications: 9486973, 9388506, 9171822, 3998954, 3451231, 9745458; Phenotypes: THYROID HORMONOGENESIS DEFECT I, OMIM:274400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC52A3 Achchuthan Shanmugasundram reviewed gene: SLC52A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 21110228, 16122634, 20920669, 20206331; Phenotypes: BROWN-VIALETTO-VAN LAERE SYNDROME, OMIM:211530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC52A2 Achchuthan Shanmugasundram reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22740598, 24253200; Phenotypes: Brown-Vialetto-Van Laere syndrome 2, OMIM:614707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC4A4 Achchuthan Shanmugasundram reviewed gene: SLC4A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 11274232, 10545938; Phenotypes: PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES, OMIM:604278; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC4A11 Achchuthan Shanmugasundram reviewed gene: SLC4A11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SLC4A11-related corneal endothelial dystrophy with or without deafness, OMIM:217700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC4A1 Achchuthan Shanmugasundram reviewed gene: SLC4A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: RENAL TUBULAR ACIDOSIS, DISTAL, AR, OMIM:611590, RENAL TUBULAR ACIDOSIS, DISTAL, AD, OMIM:179800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 SLC46A1 Achchuthan Shanmugasundram reviewed gene: SLC46A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11804211, 20795774, 17446347, 21333572, 18559978, 11807405; Phenotypes: HEREDITARY FOLATE MALABSORPTION, OMIM:229050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC45A1 Achchuthan Shanmugasundram reviewed gene: SLC45A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28434495; Phenotypes: Intellectual disability and epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC39A8 Achchuthan Shanmugasundram reviewed gene: SLC39A8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26637978, 26637979; Phenotypes: Intellectual Disability with Cerebellar Atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC39A13 Achchuthan Shanmugasundram reviewed gene: SLC39A13: Rating: GREEN; Mode of pathogenicity: ; Publications: 18513683, 18985159; Phenotypes: EHLERS-DANLOS SYNDROME-LIKE SPONDYLOCHEIRODYSPLASIA, OMIM:612350, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION, OMIM:601668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC38A3 Achchuthan Shanmugasundram reviewed gene: SLC38A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 34605855, 36539921; Phenotypes: SLC38A3-associated epileptic encephalopathy.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC37A4 Achchuthan Shanmugasundram reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 9758626, 21629566, 28224773, 9428641, 24385852, 31617422, 31508908, 33728255, 32005221, 19579760, 25804016, 33964207; Phenotypes: SLC37A4-related congenital disorder of glycosylation with liver dysfunction, Glycogen storage disease Ib, OMIM:232220; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 SLC35D1 Achchuthan Shanmugasundram reviewed gene: SLC35D1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35934917, 19508970, 17952091, 11200994; Phenotypes: SCHNECKENBECKEN DYSPLASIA, OMIM:269250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC35C1 Achchuthan Shanmugasundram reviewed gene: SLC35C1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11326279, 11326280; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C, OMIM:266265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC35B2 Achchuthan Shanmugasundram reviewed gene: SLC35B2: Rating: RED; Mode of pathogenicity: Other; Publications: 35325049; Phenotypes: SLC35B2-related chondrodysplasia with hypomyelinating leukodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC35A2 Achchuthan Shanmugasundram reviewed gene: SLC35A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24115232; Phenotypes: Epileptic Encephalopathy due to congenital disorder of glycosylation; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 SLC35A1 Achchuthan Shanmugasundram reviewed gene: SLC35A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15576474; Phenotypes: CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC33A1 Achchuthan Shanmugasundram reviewed gene: SLC33A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC32A1 Achchuthan Shanmugasundram reviewed gene: SLC32A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 34038384, 36073542; Phenotypes: SLC32A1-associated developmental and epileptic encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SLC31A1 Achchuthan Shanmugasundram reviewed gene: SLC31A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21937992, 35913762, 36562171; Phenotypes: SLC31A1-associated congenital copper transport disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC30A7 Achchuthan Shanmugasundram reviewed gene: SLC30A7: Rating: RED; Mode of pathogenicity: Other; Publications: 35751429; Phenotypes: SLC30A7-associated Joubert syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SLC2A2 Achchuthan Shanmugasundram reviewed gene: SLC2A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 9354798, 11044475; Phenotypes: FANCONI-BICKEL SYNDROME, OMIM:227810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC2A10 Achchuthan Shanmugasundram reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: ; Publications: 14569121, 17935213, 16550171; Phenotypes: ARTERIAL TORTUOSITY SYNDROME, OMIM:208050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC2A1 Achchuthan Shanmugasundram reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10980529, 1714544, 19630075, 14605501, 11136715, 19901175, 11603379, 9462754, 18403583, 18606970, 18577546, 18451999, 20221955; Phenotypes: Glucose Transporter Type 1 Deficiency Syndrome, OMIM:606777; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SLC27A4 Achchuthan Shanmugasundram reviewed gene: SLC27A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ICHTHYOSIS PREMATURITY SYNDROME, OMIM:608649; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC26A2 Achchuthan Shanmugasundram reviewed gene: SLC26A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 18925670, 10482955, 8571951, 7923357, 4644462, 12966518, 10466420, 8528239; Phenotypes: MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4, OMIM:226900, ACHONDROGENESIS TYPE 1B, OMIM:600972; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC25A42 Achchuthan Shanmugasundram reviewed gene: SLC25A42: Rating: GREEN; Mode of pathogenicity: ; Publications: 29923093, 29327420, 26541337; Phenotypes: SLC25A42-associated metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, OMIM:618416; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC25A4 Achchuthan Shanmugasundram reviewed gene: SLC25A4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27693233, 30046662, 30329211; Phenotypes: Fontaine progeroid syndrome, Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SLC25A38 Achchuthan Shanmugasundram reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: ; Publications: 19412178; Phenotypes: ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE, OMIM:205950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC25A26 Achchuthan Shanmugasundram reviewed gene: SLC25A26: Rating: GREEN; Mode of pathogenicity: ; Publications: 26522469; Phenotypes: INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC25A24 Achchuthan Shanmugasundram reviewed gene: SLC25A24: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100094, 29100093; Phenotypes: Gorlin-Chaudhry-Moss syndrome (GCMS), Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SLC25A22 Achchuthan Shanmugasundram reviewed gene: SLC25A22: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3, OMIM:609304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC25A20 Achchuthan Shanmugasundram reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: ; Publications: 9399886, 10697964, 9686371, 12859414, 10384384; Phenotypes: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, OMIM:212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC25A19 Achchuthan Shanmugasundram reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: Other; Publications: 12185364; Phenotypes: AMISH LETHAL MICROCEPHALY, OMIM:607196; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC25A15 Achchuthan Shanmugasundram reviewed gene: SLC25A15: Rating: GREEN; Mode of pathogenicity: ; Publications: 11355015, 10369256, 19242930, 16940241, 11552031; Phenotypes: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME, OMIM:238970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC25A1 Achchuthan Shanmugasundram reviewed gene: SLC25A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29226520, 27306203, 23561848; Phenotypes: SLC25A1-related Neurometabolic Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC24A4 Achchuthan Shanmugasundram reviewed gene: SLC24A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23375655; Phenotypes: AMELOGENESIS IMPERFECTA.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC24A1 Achchuthan Shanmugasundram reviewed gene: SLC24A1: Rating: RED; Mode of pathogenicity: ; Publications: 20850105; Phenotypes: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D, OMIM:613830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC22A5 Achchuthan Shanmugasundram reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: ; Publications: 9916797, 2235122, 10480371, 15714519, 9634512, 3974805, 10425211, 10051646, 20027113, 9700603, 11058897; Phenotypes: SYSTEMIC PRIMARY CARNITINE DEFICIENCY, OMIM:212140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC1A4 Achchuthan Shanmugasundram reviewed gene: SLC1A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 27193218, 26041762, 31763347, 34174466; Phenotypes: SLC1A4-related Spastic tetraplegia, thin corpus callosum, and progressive microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC1A2 Achchuthan Shanmugasundram reviewed gene: SLC1A2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27476654, 28777935; Phenotypes: EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SLC19A3 Achchuthan Shanmugasundram reviewed gene: SLC19A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 20065143, 19387023, 15871139; Phenotypes: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2, OMIM:607483; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC17A5 Achchuthan Shanmugasundram reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: ; Publications: 10069709, 10947946, 10581036; Phenotypes: SALLA DISEASE, OMIM:604369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC16A2 Achchuthan Shanmugasundram reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 8484404, 15488219, 1605231, 14661163, 15889350; Phenotypes: MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY, OMIM:300523; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 SLC13A5 Achchuthan Shanmugasundram reviewed gene: SLC13A5: Rating: GREEN; Mode of pathogenicity: ; Publications: 24995870, 26384929; Phenotypes: EPILEPTIC ENCEPHALOPATHY WITH SEIZURE ONSET IN THE FIRST DAYS OF LIFE; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC13A1 Achchuthan Shanmugasundram reviewed gene: SLC13A1: Rating: RED; Mode of pathogenicity: ; Publications: 36175384; Phenotypes: SLC13A1-associated hypersulfaturia and hyposulfatemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC12A6 Achchuthan Shanmugasundram reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: ; Publications: 16606917, 21628467, 12368912, 17893295; Phenotypes: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, OMIM:218000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC12A5 Achchuthan Shanmugasundram reviewed gene: SLC12A5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28477354, 26333769, 27436767; Phenotypes: SLC12A5-related epilepsy of infancy with migrating focal seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SLC10A7 Achchuthan Shanmugasundram reviewed gene: SLC10A7: Rating: GREEN; Mode of pathogenicity: ; Publications: 29878199, 30082715; Phenotypes: Chondrodysplasia with multiple dislocations and amelogenesis imperfecta; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SKIV2L Achchuthan Shanmugasundram reviewed gene: SKIV2L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: TRICHOHEPATOENTERIC SYNDROME 2, OMIM:614602; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SKI Achchuthan Shanmugasundram reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SIX6 Achchuthan Shanmugasundram reviewed gene: SIX6: Rating: RED; Mode of pathogenicity: Other; Publications: 15266624; Phenotypes: MICROPHTHALMIA, ISOLATED, WITH CATARACT 2, OMIM:212550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SIX5 Achchuthan Shanmugasundram reviewed gene: SIX5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17357085; Phenotypes: BRANCHIOOTORENAL SYNDROME TYPE 2, OMIM:610896; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SIX3 Achchuthan Shanmugasundram reviewed gene: SIX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19353631, 10369266, 19346217, 11039582, 17001667; Phenotypes: HOLOPROSENCEPHALY, OMIM:609637; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SIX1 Achchuthan Shanmugasundram reviewed gene: SIX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15141091, 10777717, 12843324, 17637804; Phenotypes: BRANCHIOOTIC SYNDROME TYPE 3, OMIM:608389, Non-syndromic craniosynostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SIN3B Achchuthan Shanmugasundram reviewed gene: SIN3B: Rating: RED; Mode of pathogenicity: ; Publications: 33811806; Phenotypes: SIN3B-related syndromic intellectual disability and autism spectrum disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SIN3A Achchuthan Shanmugasundram reviewed gene: SIN3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 27399968; Phenotypes: SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SIM1 Achchuthan Shanmugasundram reviewed gene: SIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28472148, 23778139, 23778136; Phenotypes: Severe obesity with neurobehavioral features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SIL1 Achchuthan Shanmugasundram reviewed gene: SIL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17026626, 18285827, 20111056, 16282978, 16282977; Phenotypes: MARINESCO-SJOEGREN SYNDROME, OMIM:248800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SIK1 Achchuthan Shanmugasundram reviewed gene: SIK1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25839329; Phenotypes: NEONATAL EPILEPSY SPECTRUM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SIAH1 Achchuthan Shanmugasundram reviewed gene: SIAH1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32430360; Phenotypes: SIAH1-associated neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SHROOM3 Achchuthan Shanmugasundram reviewed gene: SHROOM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 25805808; Phenotypes: NEURAL TUBE DEFECT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SHOX Achchuthan Shanmugasundram reviewed gene: SHOX: Rating: GREEN; Mode of pathogenicity: ; Publications: 9590292, 11403039, 12116254, 17935511, 9590293, 11889214, 15356038, 21712857, 11030412; Phenotypes: LANGER MESOMELIC DYSPLASIA, OMIM:249700, LERI-WEILL DYSCHONDROSTEOSIS, OMIM:127300; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
DDG2P v3.12 SHOC2 Achchuthan Shanmugasundram reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19684605; Phenotypes: NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, OMIM:607721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SHMT2 Achchuthan Shanmugasundram reviewed gene: SHMT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33015733; Phenotypes: SHMT2-related neurodevelopmental syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SHH Achchuthan Shanmugasundram reviewed gene: SHH: Rating: GREEN; Mode of pathogenicity: ; Publications: 12503095, 11471164, 15103725, 12567406; Phenotypes: HOLOPROSENCEPHALY TYPE 3, OMIM:142945, MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 5, OMIM:611638, TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME, OMIM:174500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SHANK3 Achchuthan Shanmugasundram reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 17173049, 22892527; Phenotypes: PHELAN-MCDERMID SYNDROME, OMIM:606232; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SHANK2 Achchuthan Shanmugasundram reviewed gene: SHANK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 20473310; Phenotypes: SUSCEPTIBILITY TO AUTISM TYPE 17, OMIM:613436; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SHANK1 Achchuthan Shanmugasundram reviewed gene: SHANK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: AUTISM, OMIM:209850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SH3PXD2B Achchuthan Shanmugasundram reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 20137777, 7158646, 15523657; Phenotypes: FRANK-TER HAAR SYNDROME, OMIM:249420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SH3BP2 Achchuthan Shanmugasundram reviewed gene: SH3BP2: Rating: RED; Mode of pathogenicity: Other; Publications: 11381256; Phenotypes: Cherubism, OMIM:118400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SGSH Achchuthan Shanmugasundram reviewed gene: SGSH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 3A, OMIM:252900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SF3B4 Achchuthan Shanmugasundram reviewed gene: SF3B4: Rating: GREEN; Mode of pathogenicity: ; Publications: 22541558; Phenotypes: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OMIM:154400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SETD5 Achchuthan Shanmugasundram reviewed gene: SETD5: Rating: GREEN; Mode of pathogenicity: ; Publications: 31656537, 28549204, 27375234, 28881385, 24680889, 25138099, 28905509; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 23, OMIM:615761; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SETD2 Achchuthan Shanmugasundram reviewed gene: SETD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34978780, 27317772, 32710489, 24852293; Phenotypes: Rabin-Pappas syndrome, SETD2-associated Overgrowth Syndrome (Luscan-Lumish syndrome); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SETD1B Achchuthan Shanmugasundram reviewed gene: SETD1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 32546566, 29322246; Phenotypes: SETD1B associated intellectual disability, epilepsy and autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SETD1A Achchuthan Shanmugasundram reviewed gene: SETD1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SETBP1 Achchuthan Shanmugasundram reviewed gene: SETBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20436468; Phenotypes: DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, OMIM:269150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SET Achchuthan Shanmugasundram reviewed gene: SET: Rating: GREEN; Mode of pathogenicity: ; Publications: 35122673, 29688601, 29907757, 28135719; Phenotypes: SET syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SERAC1 Achchuthan Shanmugasundram reviewed gene: SERAC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32346411, 27186703, 28505671, 27331002, 28778788, 28916646, 34326751, 23707711, 29205472, 31251474, 33613893; Phenotypes: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SEPSECS Achchuthan Shanmugasundram reviewed gene: SEPSECS: Rating: GREEN; Mode of pathogenicity: ; Publications: 26805434, 29464431, 26888482; Phenotypes: Pontocerebellar hypoplasia type 2D, OMIM:613811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SEMA6B Achchuthan Shanmugasundram reviewed gene: SEMA6B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 34110594, 34017830, 33798445, 32169168, 34218423, 35604360, 34092044; Phenotypes: SEMA6B-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SEMA3A Achchuthan Shanmugasundram reviewed gene: SEMA3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 24124006, 33369061, 28075028; Phenotypes: SEMA3A-related skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SELENON Achchuthan Shanmugasundram reviewed gene: SELENON: Rating: GREEN; Mode of pathogenicity: ; Publications: 26841830, 15792869, 12192640, 28558865, 30642275, 23394784, 20937510, 32154989, 26780752, 29850975, 11528383, 15668457, 16498447, 28688748, 29172004, 31066047, 21670436, 28606403, 15961312, 25808192, 17951086; Phenotypes: SELENON-related myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SELENOI Achchuthan Shanmugasundram reviewed gene: SELENOI: Rating: GREEN; Mode of pathogenicity: ; Publications: 29500230, 28052917; Phenotypes: EPT1-related complex progressive hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SECISBP2 Achchuthan Shanmugasundram reviewed gene: SECISBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16228000; Phenotypes: THYROID HORMONE METABOLISM, ABNORMAL, OMIM:609698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SEC61A1 Achchuthan Shanmugasundram reviewed gene: SEC61A1: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SEC24D Achchuthan Shanmugasundram reviewed gene: SEC24D: Rating: GREEN; Mode of pathogenicity: ; Publications: 25683121; Phenotypes: SYNDROMIC OSTEOGENESIS IMPERFECTA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SEC23B Achchuthan Shanmugasundram reviewed gene: SEC23B: Rating: GREEN; Mode of pathogenicity: ; Publications: 19621418, 19561605; Phenotypes: ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II, OMIM:224100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SEC23A Achchuthan Shanmugasundram reviewed gene: SEC23A: Rating: RED; Mode of pathogenicity: Other; Publications: 16980979; Phenotypes: CRANIOLENTICULOSUTURAL DYSPLASIA, OMIM:607812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SDHAF1 Achchuthan Shanmugasundram reviewed gene: SDHAF1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX II DEFICIENCY, OMIM:252011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SDHA Achchuthan Shanmugasundram reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: LEIGH SYNDROME, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SDCCAG8 Achchuthan Shanmugasundram reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: ; Publications: 20835237, 22626039; Phenotypes: SENIOR-LOKEN SYNDROME 7, OMIM:613615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SCYL1 Achchuthan Shanmugasundram reviewed gene: SCYL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26581903; Phenotypes: Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SCUBE3 Achchuthan Shanmugasundram reviewed gene: SCUBE3: Rating: GREEN; Mode of pathogenicity: ; Publications: 33308444; Phenotypes: SCUBE3-related developmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SCRIB Achchuthan Shanmugasundram reviewed gene: SCRIB: Rating: RED; Mode of pathogenicity: ; Publications: 24140112; Phenotypes: 8Q24.3 DELETION-LIKE; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SCO2 Achchuthan Shanmugasundram reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10749987, 14994243, 10545952, 18924171; Phenotypes: FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY, OMIM:604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SCO1 Achchuthan Shanmugasundram reviewed gene: SCO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX IV DEFICIENCY, OMIM:220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SCNM1 Achchuthan Shanmugasundram reviewed gene: SCNM1: Rating: RED; Mode of pathogenicity: ; Publications: 36084634; Phenotypes: SCNM1-associated orofaciodigital syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SCN8A Achchuthan Shanmugasundram reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22365152, 16236810; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, OMIM:614558; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SCN4A Achchuthan Shanmugasundram reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 1310898, 1316765, 10599760, 10851391, 16890191, 1338909, 8388676, 17998485, 1659668, 19015492, 8580427, 11591859, 10369308, 15596759, 18203179, 1659948, 19015483, 10944223; Phenotypes: HYPOKALEMIC PERIODIC PARALYSIS, OMIM:170400, HYPERKALEMIC PERIODIC PARALYSIS TYPE 1, OMIM:170500, PARAMYOTONIA CONGENITA OF VON EULENBURG, OMIM:168300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SCN3A Achchuthan Shanmugasundram reviewed gene: SCN3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 18242854, 24157691; Phenotypes: Focal epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SCN2A Achchuthan Shanmugasundram reviewed gene: SCN2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25457084, 26291284, 31966371, 24579881, 31439038, 28489313, 31204721, 28379373, 19783390, 30062040, 16417554, 24814476, 28254201, 15028761, 26311622, 17386050, 23550958, 22591750, 19786696, 23988467, 24710820, 24659627, 30144217, 30203812, 25459969, 29635106, 23935176, 28709814, 23827426, 27781028, 25772804, 29625812; Phenotypes: NONSPECIFIC SEVERE ID, INFANTILE EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SCN1B Achchuthan Shanmugasundram reviewed gene: SCN1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 17020904, 9697698, 12011299, 18464934; Phenotypes: BRUGADA SYNDROME 5, OMIM:612838; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SCN1A Achchuthan Shanmugasundram reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 16505326, 18680191, 12566275, 11359211, 21555645, 21753172, 17000989; Phenotypes: SCN1A-RELATED SEIZURE DISORDERS, OMIM:607208; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SCN11A Achchuthan Shanmugasundram reviewed gene: SCN11A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24036948; Phenotypes: CONGENITAL INABILITY TO EXPERIENCE PAIN, EPISODIC PAIN SYNDROME, FAMILIAL, OMIM:615552; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SCARF2 Achchuthan Shanmugasundram reviewed gene: SCARF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21108395; Phenotypes: VAN DEN ENDE-GUPTA SYNDROME, OMIM:600920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SCAPER Achchuthan Shanmugasundram reviewed gene: SCAPER: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SCAF4 Achchuthan Shanmugasundram reviewed gene: SCAF4: Rating: GREEN; Mode of pathogenicity: ; Publications: 32730804; Phenotypes: SCAF4-related Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SC5D Achchuthan Shanmugasundram reviewed gene: SC5D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 12189593, 12812989; Phenotypes: LATHOSTEROLOSIS, OMIM:607330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SBDS Achchuthan Shanmugasundram reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SHWACHMAN-DIAMOND SYNDROME, OMIM:260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SATB2 Achchuthan Shanmugasundram reviewed gene: SATB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30848049, 31392730, 31021519, 30575289, 17377962, 31333717, 28151491, 29739092, 35838081, 29436146, 28211976, 28139846, 26596517, 28787087, 31420882, 24363063, 30648748, 25885067, 24301056, 27774744; Phenotypes: GLASS SYNDROME, OMIM:612313; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SATB1 Achchuthan Shanmugasundram reviewed gene: SATB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33057194; Phenotypes: SATB1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SARS2 Achchuthan Shanmugasundram reviewed gene: SARS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21255763, 33751860, 24034276; Phenotypes: SARS2-related hyperuricemia, pulmonary hypertension, renal failure and alkalosis, OMIM:613845; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SARS Achchuthan Shanmugasundram reviewed gene: SARS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28236339, 34570399, 36041817; Phenotypes: SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709, Autosomal dominant SARS1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SAMHD1 Achchuthan Shanmugasundram reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: AICARDI-GOUTIERES SYNDROME, OMIM:239588; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SAMD9L Achchuthan Shanmugasundram reviewed gene: SAMD9L: Rating: RED; Mode of pathogenicity: Other; Publications: 27259050; Phenotypes: Ataxia-Pancytopenia Syndrome, OMIM:159550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SAMD9 Achchuthan Shanmugasundram reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28346228, 27182967; Phenotypes: MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy, OMIM:617053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SALL4 Achchuthan Shanmugasundram reviewed gene: SALL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 17256792, 12395297, 26791099, 12393809; Phenotypes: DUANE-RADIAL RAY SYNDROME, OMIM:607323; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SALL1 Achchuthan Shanmugasundram reviewed gene: SALL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18000979, 10533063, 9973281, 17431915, 14755477, 11484202, 10928856, 9425907; Phenotypes: TOWNES-BROCKS SYNDROME, OMIM:107480; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 SACS Achchuthan Shanmugasundram reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: ; Publications: 10655055; Phenotypes: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE, OMIM:270550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RYR3 Achchuthan Shanmugasundram reviewed gene: RYR3: Rating: RED; Mode of pathogenicity: ; Publications: 25262651; Phenotypes: EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RYR2 Achchuthan Shanmugasundram reviewed gene: RYR2: Rating: RED; Mode of pathogenicity: Other; Publications: 30170228; Phenotypes: RYR2-related Catecholaminergic polymorphic ventricular tachycardia and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RYR1 Achchuthan Shanmugasundram reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20839240; Phenotypes: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, OMIM:255320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RUNX2 Achchuthan Shanmugasundram reviewed gene: RUNX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 9207800, 12081718, 12424590, 9182765, 10545612, 15952089, 10521292; Phenotypes: CLEIDOCRANIAL DYSPLASIA, OMIM:119600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RUBCN Achchuthan Shanmugasundram reviewed gene: RUBCN: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: SYNDROMIC MR WITH ATAXIA, DYSARTHRIA AND EPILEPSY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RTTN Achchuthan Shanmugasundram reviewed gene: RTTN: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26608784, 29883675, 22939636; Phenotypes: BILATERAL DIFFUSE POLYMICROGYRIA, OMIM:614833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RTN4IP1 Achchuthan Shanmugasundram reviewed gene: RTN4IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26593267; Phenotypes: EARLY-ONSET RECESSIVE OPTIC NEUROPATHY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RTEL1 Achchuthan Shanmugasundram reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23453664; Phenotypes: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, OMIM:615190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RSRC1 Achchuthan Shanmugasundram reviewed gene: RSRC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29522154, 32227164, 28640246; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RSPRY1 Achchuthan Shanmugasundram reviewed gene: RSPRY1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26365341; Phenotypes: PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RSPO4 Achchuthan Shanmugasundram reviewed gene: RSPO4: Rating: GREEN; Mode of pathogenicity: ; Publications: 17186469, 18070203, 17041604, 17914448, 4702713; Phenotypes: ANONYCHIA CONGENITA, OMIM:206800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RSPO2 Achchuthan Shanmugasundram reviewed gene: RSPO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29769720; Phenotypes: Tetra-amelia with lung agenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RSPH3 Achchuthan Shanmugasundram reviewed gene: RSPH3: Rating: GREEN; Mode of pathogenicity: ; Publications: 26073779; Phenotypes: PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX DEFECTS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RSPH1 Achchuthan Shanmugasundram reviewed gene: RSPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23993197; Phenotypes: PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX AND RADIAL-SPOKE DEFECTS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RRM2B Achchuthan Shanmugasundram reviewed gene: RRM2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 23107649, 19616983, 28482374, 23968935, 17486094; Phenotypes: Mitochondrial depletion syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RRM1 Achchuthan Shanmugasundram reviewed gene: RRM1: Rating: RED; Mode of pathogenicity: Other; Publications: 35617047; Phenotypes: RRM1-related mitochondrial DNA depletion/deletions syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 RRAS2 Achchuthan Shanmugasundram reviewed gene: RRAS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31130282, 24705357, 31130285; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RRAS Achchuthan Shanmugasundram reviewed gene: RRAS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24705357; Phenotypes: ATYPICAL NOONAN SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RPS6KA3 Achchuthan Shanmugasundram reviewed gene: RPS6KA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 17717706, 10094187, 12439904, 8955270, 9887375, 9837815, 12558110, 10528858, 15214012, 14986828, 11992250; Phenotypes: Coffin-Lowry Syndrome 2 RPS6KA3 XLD, Coffin-Lowry Syndrome 2 RPS6KA3 XLR; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 RPS26 Achchuthan Shanmugasundram reviewed gene: RPS26: Rating: GREEN; Mode of pathogenicity: ; Publications: 24942156, 24675553, 25946618, 31277601, 20116044; Phenotypes: DIAMOND-BLACKFAN ANEMIA 10, OMIM:613309; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RPS23 Achchuthan Shanmugasundram reviewed gene: RPS23: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28257692; Phenotypes: Microcephaly, hearing loss, and dysmorphic features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RPS19 Achchuthan Shanmugasundram reviewed gene: RPS19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: RPS19-RELATED DIAMOND-BLACKFAN ANEMIA, OMIM:220176; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RPL26 Achchuthan Shanmugasundram reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: ; Publications: 22431104; Phenotypes: DIAMOND-BLACKFAN ANEMIA 11, OMIM:614900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RPL13 Achchuthan Shanmugasundram reviewed gene: RPL13: Rating: RED; Mode of pathogenicity: Other; Publications: 31630789; Phenotypes: Spondyloepimetaphyseal Dysplasia with Severe Short Stature; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RPL11 Achchuthan Shanmugasundram reviewed gene: RPL11: Rating: GREEN; Mode of pathogenicity: ; Publications: 19191325, 19773262, 19061985; Phenotypes: Diamond-Blackfan anemia with cleft palate and abnormal thumbs; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RPL10 Achchuthan Shanmugasundram reviewed gene: RPL10: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25846674, 29066376, 35876338, 25316788, 26290468; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 35, OMIM:300998; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 RPGRIP1L Achchuthan Shanmugasundram reviewed gene: RPGRIP1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 17558407, 17558409, 18565097, 19574260; Phenotypes: MECKEL SYNDROME TYPE 5, OMIM:611561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RPGRIP1 Achchuthan Shanmugasundram reviewed gene: RPGRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 12920076, 11283794, 11528500; Phenotypes: LEBER CONGENITAL AMAUROSIS 6, OMIM:613826, CONE-ROD DYSTROPHY 13, OMIM:608194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RPE65 Achchuthan Shanmugasundram reviewed gene: RPE65: Rating: GREEN; Mode of pathogenicity: ; Publications: 9326927; Phenotypes: LEBER CONGENITAL AMAUROSIS, OMIM:608553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RORB Achchuthan Shanmugasundram reviewed gene: RORB: Rating: GREEN; Mode of pathogenicity: ; Publications: 27352968, 32162308, 33387058; Phenotypes: RORB-epilepsy and neurodevelopmental disorder, OMIM:618357, epilepsy, idiopathic generalized, susceptibility to, 15, MONDO:0032699; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RORA Achchuthan Shanmugasundram reviewed gene: RORA: Rating: GREEN; Mode of pathogenicity: ; Publications: 29656859; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ROR2 Achchuthan Shanmugasundram reviewed gene: ROR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35344616, 15952209, 19533773, 10932187, 10986040, 19640924, 18831060, 10700182, 19461659, 10932186; Phenotypes: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1, OMIM:268310, BRACHYDACTYLY, TYPE B1, OMIM:113000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 ROGDI Achchuthan Shanmugasundram reviewed gene: ROGDI: Rating: GREEN; Mode of pathogenicity: ; Publications: 3236364, 7625549, 16411202, 22482807, 8133980, 22424600; Phenotypes: KOHLSCHUTTER-TONZ SYNDROME, OMIM:226750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ROBO4 Achchuthan Shanmugasundram reviewed gene: ROBO4: Rating: GREEN; Mode of pathogenicity: ; Publications: 30455415; Phenotypes: Bicuspid Aortic Valve and Aortic Aneurysm, OMIM:618496; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ROBO3 Achchuthan Shanmugasundram reviewed gene: ROBO3: Rating: GREEN; Mode of pathogenicity: ; Publications: 16525029, 15105459; Phenotypes: FAMILIAL HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS, OMIM:607313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RNU4ATAC Achchuthan Shanmugasundram reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22581640, 21474761, 21474760, 17666473; Phenotypes: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I, OMIM:210710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RNU12 Achchuthan Shanmugasundram reviewed gene: RNU12: Rating: RED; Mode of pathogenicity: Other; Publications: 27863452, 34085356; Phenotypes: RNU12-related CDAGS syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RNPC3 Achchuthan Shanmugasundram reviewed gene: RNPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 35792517, 29866761, 32462814, 24480542, 33650182; Phenotypes: RNPC3-associated growth hormone deficiency and short stature, OMIM:618160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RNF168 Achchuthan Shanmugasundram reviewed gene: RNF168: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: RIDDLE SYNDROME, OMIM:611943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RNF135 Achchuthan Shanmugasundram reviewed gene: RNF135: Rating: RED; Mode of pathogenicity: ; Publications: 17632510; Phenotypes: MACROCEPHALY, MACROSOMIA, FACIAL DYSMORPHISM SYNDROME, OMIM:614192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RNF13 Achchuthan Shanmugasundram reviewed gene: RNF13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30595371; Phenotypes: Congenital Microcephaly Epileptic Encephalopathy Blindness and Failure to Thrive; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RNF125 Achchuthan Shanmugasundram reviewed gene: RNF125: Rating: RED; Mode of pathogenicity: Other; Publications: 34196401, 25196541; Phenotypes: RNF125-related intellectual disability and macrocephaly, OMIM:616260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RNF113A Achchuthan Shanmugasundram reviewed gene: RNF113A: Rating: RED; Mode of pathogenicity: ; Publications: 25612912; Phenotypes: X-LINKED TRICHOTHIODYSTROPHY; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 RNASET2 Achchuthan Shanmugasundram reviewed gene: RNASET2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19525954; Phenotypes: LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY, OMIM:612951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RNASEH2C Achchuthan Shanmugasundram reviewed gene: RNASEH2C: Rating: GREEN; Mode of pathogenicity: ; Publications: 16845400; Phenotypes: AICARDI-GOUTIERES SYNDROME 3, OMIM:610329; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RNASEH2B Achchuthan Shanmugasundram reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 16845400; Phenotypes: AICARDI-GOUTIERES SYNDROME 2, OMIM:610181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RNASEH2A Achchuthan Shanmugasundram reviewed gene: RNASEH2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 15870678; Phenotypes: AICARDI-GOUTIERES SYNDROME 4, OMIM:610333; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RMRP Achchuthan Shanmugasundram reviewed gene: RMRP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CARTILAGE-HAIR HYPOPLASIA, OMIM:250250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RMND1 Achchuthan Shanmugasundram reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23022099; Phenotypes: ENCEPHALOPATHY ASSOCIATED WITH MULTIPLE OXIDATIVE PHOSPHORYLATION COMPLEX DEFICIENCIES AND A MITOCHONDRIAL TRANSLATION DEFECT, OMIM:614922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RMI1 Achchuthan Shanmugasundram reviewed gene: RMI1: Rating: RED; Mode of pathogenicity: ; Publications: 30193137; Phenotypes: Bloom Syndrome like Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RLIM Achchuthan Shanmugasundram reviewed gene: RLIM: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25644381; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 RIT1 Achchuthan Shanmugasundram reviewed gene: RIT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23791108; Phenotypes: NOONAN SYNDROME 8, OMIM:615355; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RIPK4 Achchuthan Shanmugasundram reviewed gene: RIPK4: Rating: GREEN; Mode of pathogenicity: ; Publications: 15264293, 22197488; Phenotypes: POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE, OMIM:263650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RINT1 Achchuthan Shanmugasundram reviewed gene: RINT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31204009; Phenotypes: Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RIN2 Achchuthan Shanmugasundram reviewed gene: RIN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19631308; Phenotypes: MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RIMS2 Achchuthan Shanmugasundram reviewed gene: RIMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32470375; Phenotypes: RIMS2 Syndromic Congenital Cone-Rod Synaptic Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RHOBTB2 Achchuthan Shanmugasundram reviewed gene: RHOBTB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29276004; Phenotypes: Developmental and Epileptic Encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RGS7 Achchuthan Shanmugasundram reviewed gene: RGS7: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RFX6 Achchuthan Shanmugasundram reviewed gene: RFX6: Rating: GREEN; Mode of pathogenicity: ; Publications: 15592663, 19887127, 18512226, 20148032; Phenotypes: MARTINEZ-FRIAS SYNDROME, OMIM:601346; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RFT1 Achchuthan Shanmugasundram reviewed gene: RFT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18313027; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1N, OMIM:612015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RETREG1 Achchuthan Shanmugasundram reviewed gene: RETREG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19838196; Phenotypes: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB, OMIM:613115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RET Achchuthan Shanmugasundram reviewed gene: RET: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11788682; Phenotypes: MULTIPLE ENDOCRINE NEOPLASIA IIB, OMIM:162300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 REST Achchuthan Shanmugasundram reviewed gene: REST: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36509837; Phenotypes: REST-related gingival fibromatosis and sensorineural hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RERE Achchuthan Shanmugasundram reviewed gene: RERE: Rating: GREEN; Mode of pathogenicity: ; Publications: 27087320; Phenotypes: Phenocopy of Proximal 1p36 Deletions; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RELN Achchuthan Shanmugasundram reviewed gene: RELN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LISSENCEPHALY 2, OMIM:257320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RECQL4 Achchuthan Shanmugasundram reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 11754069, 12952869, 15964893, 12734318, 10319867, 20503338, 12838562, 9934984, 10678659, 9878247; Phenotypes: BALLER-GEROLD SYNDROME, OMIM:218600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RBPJ Achchuthan Shanmugasundram reviewed gene: RBPJ: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22883147; Phenotypes: ADAMS OLIVER SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RBM8A Achchuthan Shanmugasundram reviewed gene: RBM8A: Rating: GREEN; Mode of pathogenicity: ; Publications: 22366785; Phenotypes: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, OMIM:274000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RBM28 Achchuthan Shanmugasundram reviewed gene: RBM28: Rating: RED; Mode of pathogenicity: Other; Publications: 18439547; Phenotypes: ALOPECIA NEUROLOGIC DEFECTS AND ENDOCRINOPATHY SYNDROME, OMIM:612079; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RBM10 Achchuthan Shanmugasundram reviewed gene: RBM10: Rating: GREEN; Mode of pathogenicity: ; Publications: 20451169, 5410571, 30189253, 30450804, 35645043; Phenotypes: TARP SYNDROME, OMIM:311900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 RBFOX1 Achchuthan Shanmugasundram reviewed gene: RBFOX1: Rating: RED; Mode of pathogenicity: ; Publications: 26185613, 26749308; Phenotypes: RBFOX1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RBBP8 Achchuthan Shanmugasundram reviewed gene: RBBP8: Rating: GREEN; Mode of pathogenicity: ; Publications: 26333564, 34270086, 21998596; Phenotypes: RBBP8-related microcephaly and intellectual disability, OMIM:251255; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RAX Achchuthan Shanmugasundram reviewed gene: RAX: Rating: GREEN; Mode of pathogenicity: ; Publications: 18783408, 14662654; Phenotypes: MICROPHTHALMIA ISOLATED TYPE 3, OMIM:611038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RASA1 Achchuthan Shanmugasundram reviewed gene: RASA1: Rating: RED; Mode of pathogenicity: ; Publications: 18363760, 14639529; Phenotypes: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1, OMIM:608354; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RARS2 Achchuthan Shanmugasundram reviewed gene: RARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34085948; Phenotypes: PONTOCEREBELLAR HYPOPLASIA TYPE 6, OMIM:611523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RARS Achchuthan Shanmugasundram reviewed gene: RARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 28905880, 31814314; Phenotypes: RARS1 related hypomyelinating leukodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RARB Achchuthan Shanmugasundram reviewed gene: RARB: Rating: GREEN; Mode of pathogenicity: ; Publications: 27120018, 24075189; Phenotypes: MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA, Microphthalmia, syndromic 12, OMIM:615524; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 RAPSN Achchuthan Shanmugasundram reviewed gene: RAPSN: Rating: GREEN; Mode of pathogenicity: ; Publications: 11791205, 18179903; Phenotypes: FETAL AKINESIA DEFORMATION SEQUENCE, OMIM:208150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RAP1B Achchuthan Shanmugasundram reviewed gene: RAP1B: Rating: RED; Mode of pathogenicity: Other; Publications: 32627184, 26280580; Phenotypes: RAP1B-related developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RANBP2 Achchuthan Shanmugasundram reviewed gene: RANBP2: Rating: RED; Mode of pathogenicity: Other; Publications: 19118815; Phenotypes: ACUTE NECROTIZING ENCEPHALOPATHY 1, SUSCEPTIBILITY TO, OMIM:285648; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RALGDS Achchuthan Shanmugasundram reviewed gene: RALGDS: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RALGAPA1 Achchuthan Shanmugasundram reviewed gene: RALGAPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32004447; Phenotypes: RALGAPA1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RALA Achchuthan Shanmugasundram reviewed gene: RALA: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30500825; Phenotypes: RALA-related Neurodevelopmental Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RAI1 Achchuthan Shanmugasundram reviewed gene: RAI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SMITH-MAGENIS SYNDROME, OMIM:182290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RAF1 Achchuthan Shanmugasundram reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17603483; Phenotypes: NOONAN SYNDROME 5, OMIM:611553; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RAD51C Achchuthan Shanmugasundram reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20400963; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP 0, OMIM:613390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RAD51 Achchuthan Shanmugasundram reviewed gene: RAD51: Rating: RED; Mode of pathogenicity: ; Publications: 21242494; Phenotypes: MIRROR MOVEMENTS 2, OMIM:614508; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RAD50 Achchuthan Shanmugasundram reviewed gene: RAD50: Rating: RED; Mode of pathogenicity: ; Publications: 19409520; Phenotypes: NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER, OMIM:613078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RAD21 Achchuthan Shanmugasundram reviewed gene: RAD21: Rating: GREEN; Mode of pathogenicity: ; Publications: 27882533, 30716475, 22633399, 32193685, 24378232, 30125677; Phenotypes: COHESINOPATHY, OMIM:614701; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RAC3 Achchuthan Shanmugasundram reviewed gene: RAC3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30293988; Phenotypes: Neurodevelopment disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RAC1 Achchuthan Shanmugasundram reviewed gene: RAC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35139179, 28886345; Phenotypes: RAC1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RABL6 Achchuthan Shanmugasundram reviewed gene: RABL6: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RAB3GAP2 Achchuthan Shanmugasundram reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16532399, 29419336; Phenotypes: MARTSOLF SYNDROME, OMIM:212720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RAB3GAP1 Achchuthan Shanmugasundram reviewed gene: RAB3GAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15216543, 29675078, 10465117, 20512159, 15696165; Phenotypes: WARBURG MICRO SYNDROME TYPE 1, OMIM:600118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RAB39B Achchuthan Shanmugasundram reviewed gene: RAB39B: Rating: GREEN; Mode of pathogenicity: ; Publications: 20159109, 25434005, 11050621; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 72 (MRX72) +/- PARKINSONS, OMIM:300271; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 RAB23 Achchuthan Shanmugasundram reviewed gene: RAB23: Rating: GREEN; Mode of pathogenicity: ; Publications: 17503333, 20358613; Phenotypes: ACROCEPHALOPOLYSYNDACTYLY TYPE 2, OMIM:201000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RAB18 Achchuthan Shanmugasundram reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: ; Publications: 29300443, 26063829, 21473985; Phenotypes: WARBURG MICRO SYNDROME TYPE 3, OMIM:614222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 RAB14 Achchuthan Shanmugasundram reviewed gene: RAB14: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: RAB14-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RAB11B Achchuthan Shanmugasundram reviewed gene: RAB11B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29106825; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 RAB11A Achchuthan Shanmugasundram reviewed gene: RAB11A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100083; Phenotypes: Epilepsy and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 QRICH1 Achchuthan Shanmugasundram reviewed gene: QRICH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28692176; Phenotypes: QRICH1 syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 QKI Achchuthan Shanmugasundram reviewed gene: QKI: Rating: RED; Mode of pathogenicity: ; Publications: 20082458; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 QDPR Achchuthan Shanmugasundram reviewed gene: QDPR: Rating: GREEN; Mode of pathogenicity: ; Publications: 8326489, 2116088, 11153907, 9341885, 9744478; Phenotypes: BH4-DEFICIENT HYPERPHENYLALANINEMIA C, OMIM:261630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 QARS Achchuthan Shanmugasundram reviewed gene: QARS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24656866; Phenotypes: MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, OMIM:615760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PYROXD1 Achchuthan Shanmugasundram reviewed gene: PYROXD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27745833; Phenotypes: Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PYGL Achchuthan Shanmugasundram reviewed gene: PYGL: Rating: GREEN; Mode of pathogenicity: ; Publications: 9529348, 9536091; Phenotypes: GLYCOGEN STORAGE DISEASE TYPE VI, OMIM:232700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PYCR2 Achchuthan Shanmugasundram reviewed gene: PYCR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25865492; Phenotypes: POSTNATAL MICROCEPHALY, HYPOMYELINATION, AND REDUCED CEREBRAL WHITE-MATTER VOLUME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PYCR1 Achchuthan Shanmugasundram reviewed gene: PYCR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19648921, 18304158, 11424136, 19576563, 18348262, 16045708; Phenotypes: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, OMIM:612940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PXDN Achchuthan Shanmugasundram reviewed gene: PXDN: Rating: GREEN; Mode of pathogenicity: ; Publications: 21907015; Phenotypes: CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PUS7 Achchuthan Shanmugasundram reviewed gene: PUS7: Rating: GREEN; Mode of pathogenicity: ; Publications: 30526862; Phenotypes: Intellectual Disability with Speech Delay Microcephaly Short Stature and Aggressive Behavior; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PUS3 Achchuthan Shanmugasundram reviewed gene: PUS3: Rating: GREEN; Mode of pathogenicity: ; Publications: 30697592, 32056211, 34415064, 31444731, 30308082, 27055666; Phenotypes: PUS3-associated neurodevelopmental disorder with microcephaly and gray sclerae; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PUS1 Achchuthan Shanmugasundram reviewed gene: PUS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32287105, 30588737, 17056637, 26556812, 25227147; Phenotypes: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, OMIM:600462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PURA Achchuthan Shanmugasundram reviewed gene: PURA: Rating: GREEN; Mode of pathogenicity: ; Publications: 31911028, 29150892, 25342064, 32089526, 29307761, 29097605, 27148565, 25439098; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PUF60 Achchuthan Shanmugasundram reviewed gene: PUF60: Rating: GREEN; Mode of pathogenicity: ; Publications: 28327570, 27804958; Phenotypes: PUF60 syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PTS Achchuthan Shanmugasundram reviewed gene: PTS: Rating: GREEN; Mode of pathogenicity: ; Publications: 10220141, 8178819, 9450907; Phenotypes: 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY, OMIM:261640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PTRH2 Achchuthan Shanmugasundram reviewed gene: PTRH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31057140, 27129381, 25574476, 25558065, 28328138; Phenotypes: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET, OMIM:616263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PTPRF Achchuthan Shanmugasundram reviewed gene: PTPRF: Rating: RED; Mode of pathogenicity: ; Publications: 24781087; Phenotypes: ATHELIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PTPN14 Achchuthan Shanmugasundram reviewed gene: PTPN14: Rating: GREEN; Mode of pathogenicity: ; Publications: 20826270; Phenotypes: CHOANAL ATRESIA AND LYMPHEDEMA, OMIM:613611; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PTPN11 Achchuthan Shanmugasundram reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19659470, 15520399, 21910226, 15384080, 24820750, 16733669, 12325025, 19864201, 22822385, 19768645, 19054014, 11992261, 23799168, 15240615, 27484170, 11704759, 24790373, 26377839, 25884655, 25917897, 17875892, 12529711, 12161469, 21365175, 19449407, 21747628, 21677813, 17927788; Phenotypes: LEOPARD SYNDROME TYPE 1, OMIM:151100, NOONAN SYNDROME 1, OMIM:163950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PTHLH Achchuthan Shanmugasundram reviewed gene: PTHLH: Rating: GREEN; Mode of pathogenicity: ; Publications: 20170896; Phenotypes: CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS, BRACHYDACTYLY, TYPE E2, OMIM:613382; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PTH1R Achchuthan Shanmugasundram reviewed gene: PTH1R: Rating: GREEN; Mode of pathogenicity: ; Publications: 9745456, 8703170, 15240651, 17164305, 3975110, 7701349, 10487664, 15525660, 10523019, 19061984, 9649554; Phenotypes: PRIMARY FAILURE OF TOOTH ERUPTION, OMIM:125350, CHONDRODYSPLASIA BLOMSTRAND TYPE, OMIM:215045, JANSEN METAPHYSEAL CHONDRODYSPLASIA, OMIM:156400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 PTH Achchuthan Shanmugasundram reviewed gene: PTH: Rating: GREEN; Mode of pathogenicity: ; Publications: 3005800, 1302009, 10523031, 2212001; Phenotypes: FAMILIAL ISOLATED HYPOPARATHYROIDISM, OMIM:146200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PTF1A Achchuthan Shanmugasundram reviewed gene: PTF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 15543146, 21749365, 10507728, 24212882; Phenotypes: PANCREATIC AGENESIS, DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS, OMIM:609069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PTEN Achchuthan Shanmugasundram reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 9241266, 9467011, 17286265, 9259288, 11476841, 9425889, 9140396, 9832031, 10051160, 16704655, 12844284, 15805158, 12471211, 10353779, 10777358, 23160955, 11238682, 9832032; Phenotypes: PTEN Hamartoma Tumor Syndrome, PROTEUS SYNDROME, OMIM:176920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PTDSS1 Achchuthan Shanmugasundram reviewed gene: PTDSS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35224839, 24241535; Phenotypes: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, OMIM:151050, Developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PTCHD1 Achchuthan Shanmugasundram reviewed gene: PTCHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20844286; Phenotypes: AUTISM/ID, OMIM:300830; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 PTCH1 Achchuthan Shanmugasundram reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8658145, 11941477, 8681379, 17001668, 22572734, 12900905; Phenotypes: BASAL CELL NEVUS SYNDROME, OMIM:109400, HOLOPROSENCEPHALY-7, OMIM:610828; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PSPH Achchuthan Shanmugasundram reviewed gene: PSPH: Rating: GREEN; Mode of pathogenicity: ; Publications: 25152457, 14673469, 9222972; Phenotypes: NEU-LAXOVA, OMIM:256520, PHOSPHOSERINE PHOSPHATASE DEFICIENCY, OMIM:614023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PSMD12 Achchuthan Shanmugasundram reviewed gene: PSMD12: Rating: RED; Mode of pathogenicity: ; Publications: 28388435; Phenotypes: Global Developmental Delay, Multiple Malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PSMC5 Achchuthan Shanmugasundram reviewed gene: PSMC5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: PSMC5-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PSMC1 Achchuthan Shanmugasundram reviewed gene: PSMC1: Rating: RED; Mode of pathogenicity: Other; Publications: 35861243; Phenotypes: PSMC1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PSMB8 Achchuthan Shanmugasundram reviewed gene: PSMB8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21881205, 21953331, 21852578, 21129723; Phenotypes: NAKAJO SYNDROME, OMIM:256040; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PSAT1 Achchuthan Shanmugasundram reviewed gene: PSAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17436247; Phenotypes: NEU-LAXOVA SYNDROME, OMIM:256520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PSAP Achchuthan Shanmugasundram reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: ; Publications: 15773042; Phenotypes: ATYPICAL KRABBE DISEASE, OMIM:611722; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PRUNE1 Achchuthan Shanmugasundram reviewed gene: PRUNE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28211990, 28334956; Phenotypes: PEHO Like condition; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PRSS56 Achchuthan Shanmugasundram reviewed gene: PRSS56: Rating: GREEN; Mode of pathogenicity: ; Publications: 21397065, 19526372; Phenotypes: MICROPHTHALMIA ISOLATED TYPE 6, OMIM:613517; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PRSS12 Achchuthan Shanmugasundram reviewed gene: PRSS12: Rating: GREEN; Mode of pathogenicity: ; Publications: 12459588; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 1, OMIM:249500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PRRX1 Achchuthan Shanmugasundram reviewed gene: PRRX1: Rating: RED; Mode of pathogenicity: Other; Publications: 23444262, 22211708; Phenotypes: AGNATHIA-OTOCEPHALY COMPLEX monoallelic, AGNATHIA-OTOCEPHALY COMPLEX biallelic; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 PRRT2 Achchuthan Shanmugasundram reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22543779, 21937992, 22243967, 22744660; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME, OMIM:602066; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 PRR12 Achchuthan Shanmugasundram reviewed gene: PRR12: Rating: GREEN; Mode of pathogenicity: ; Publications: 29556724, 26163108; Phenotypes: Intellectual disability and iris abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PRPS1 Achchuthan Shanmugasundram reviewed gene: PRPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22246954, 17701896, 8498830, 6243137, 15240907, 7593598, 10503584, 171280, 17701900, 8968763, 2423135, 20021999; Phenotypes: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, OMIM:300661, DEAFNESS X-LINKED TYPE 1, OMIM:304500, CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5, OMIM:311070; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 PRPF8 Achchuthan Shanmugasundram reviewed gene: PRPF8: Rating: GREEN; Mode of pathogenicity: ; Publications: 33057194, 35543142, 29847639; Phenotypes: PRPF8-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PROSER1 Achchuthan Shanmugasundram reviewed gene: PROSER1: Rating: RED; Mode of pathogenicity: ; Publications: 35229282; Phenotypes: PROSER1-related developmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PROP1 Achchuthan Shanmugasundram reviewed gene: PROP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PROP1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY, OMIM:262600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PRMT9 Achchuthan Shanmugasundram reviewed gene: PRMT9: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PRMT7 Achchuthan Shanmugasundram reviewed gene: PRMT7: Rating: GREEN; Mode of pathogenicity: ; Publications: 26437029; Phenotypes: Pseudohypoparathyroidism-like disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PRKG2 Achchuthan Shanmugasundram reviewed gene: PRKG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34782440, 36504352, 33106379; Phenotypes: PRKG2-related acromesomelic dysplasia and spondylometaphyseal dysplasia, OMIM:619636; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PRKD1 Achchuthan Shanmugasundram reviewed gene: PRKD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Syndromic congenital heart defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PRKAR1B Achchuthan Shanmugasundram reviewed gene: PRKAR1B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194, 33833410; Phenotypes: PRKAR1B-related developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PRKAR1A Achchuthan Shanmugasundram reviewed gene: PRKAR1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22464252, 22464250, 21651393; Phenotypes: ACRODYSOSTOSIS, OMIM:101800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PRKACB Achchuthan Shanmugasundram reviewed gene: PRKACB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33058759; Phenotypes: PRKACB-related Multiple Congenital Malformation Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PRKACA Achchuthan Shanmugasundram reviewed gene: PRKACA: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33058759; Phenotypes: PRKACA-related Multiple Congenital Malformation Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PRIM1 Achchuthan Shanmugasundram reviewed gene: PRIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33060134; Phenotypes: PRIM1-related Primordial Dwarfism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PREPL Achchuthan Shanmugasundram reviewed gene: PREPL: Rating: GREEN; Mode of pathogenicity: ; Publications: 24610330; Phenotypes: HYPOTONIA-CYSTINURIA SYNDROME, OMIM:606407; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PRDX3 Achchuthan Shanmugasundram reviewed gene: PRDX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 35766882; Phenotypes: PRDX3-associated cerebellar ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PRDM6 Achchuthan Shanmugasundram reviewed gene: PRDM6: Rating: RED; Mode of pathogenicity: Other; Publications: 27181681; Phenotypes: Isolated Nonsyndromic Patent Ductus Arteriosus.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PRDM15 Achchuthan Shanmugasundram reviewed gene: PRDM15: Rating: RED; Mode of pathogenicity: Other; Publications: 33593823; Phenotypes: PRDM15-related renal and neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PRDM13 Achchuthan Shanmugasundram reviewed gene: PRDM13: Rating: GREEN; Mode of pathogenicity: ; Publications: 35390279; Phenotypes: PRDM13-related olivopentocerebellar hypoplasia syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PRDM12 Achchuthan Shanmugasundram reviewed gene: PRDM12: Rating: GREEN; Mode of pathogenicity: ; Publications: 26005867; Phenotypes: HEREDITARY SENSORY & AUTONOMIC NEUROPATHY TYPE VIII, OMIM:616488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PQBP1 Achchuthan Shanmugasundram reviewed gene: PQBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 13981686, 14634649, 3177467, 7943045, 16493439, 16740914; Phenotypes: RENPENNING SYNDROME 1, OMIM:309500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 PPT1 Achchuthan Shanmugasundram reviewed gene: PPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 1, OMIM:256730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PPP3CA Achchuthan Shanmugasundram reviewed gene: PPP3CA: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28942967; Phenotypes: Severe Neurodevelopmental Disease with Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PPP2R5D Achchuthan Shanmugasundram reviewed gene: PPP2R5D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25972378, 36216457, 25533962, 26576547; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PPP2R1A Achchuthan Shanmugasundram reviewed gene: PPP2R1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25533962; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PPP2CA Achchuthan Shanmugasundram reviewed gene: PPP2CA: Rating: GREEN; Mode of pathogenicity: ; Publications: 30595372; Phenotypes: Syndromic Intellectual Disability Resembling Other PP2A Related Neurodevelopmental Disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PPP1R21 Achchuthan Shanmugasundram reviewed gene: PPP1R21: Rating: GREEN; Mode of pathogenicity: ; Publications: 30520571, 28940097, 29808498, 32985083; Phenotypes: PPP1R21-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PPP1R15B Achchuthan Shanmugasundram reviewed gene: PPP1R15B: Rating: RED; Mode of pathogenicity: ; Publications: 26307080; Phenotypes: Severe microcephaly, short stature and intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PPP1R13L Achchuthan Shanmugasundram reviewed gene: PPP1R13L: Rating: GREEN; Mode of pathogenicity: ; Publications: 32666529, 28069640; Phenotypes: PPP1R13L-related dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PPP1R12A Achchuthan Shanmugasundram reviewed gene: PPP1R12A: Rating: GREEN; Mode of pathogenicity: ; Publications: 31883643; Phenotypes: PPP1R12A-related Holoprosencephaly Spectrum and Urogenital Malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PPP1CB Achchuthan Shanmugasundram reviewed gene: PPP1CB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27264673; Phenotypes: Rasopathy with developmental delay, short stature and sparse slow-growing hair; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PPM1D Achchuthan Shanmugasundram reviewed gene: PPM1D: Rating: GREEN; Mode of pathogenicity: ; Publications: 28135719, 28343630; Phenotypes: PPM1D syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PPIL1 Achchuthan Shanmugasundram reviewed gene: PPIL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33220177; Phenotypes: PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PPFIBP1 Achchuthan Shanmugasundram reviewed gene: PPFIBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30214071, 35830857; Phenotypes: PPFIBP1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PPA2 Achchuthan Shanmugasundram reviewed gene: PPA2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27523598, 27523597, 34400813; Phenotypes: Sudden arrhythmic cardiac death after infectious or alcohol trigger; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 POU4F1 Achchuthan Shanmugasundram reviewed gene: POU4F1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33783914; Phenotypes: POU4F1-related ataxia, intention tremor, and hypotonia syndrome, OMIM:619352; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 POU3F3 Achchuthan Shanmugasundram reviewed gene: POU3F3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31303265; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 POU1F1 Achchuthan Shanmugasundram reviewed gene: POU1F1: Rating: GREEN; Mode of pathogenicity: ; Publications: 1509262, 12629113, 15928241, 2634610, 9626142, 1302000, 16968807, 8768831, 11297581, 1472057, 7670563; Phenotypes: POU1F1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY, OMIM:613038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 POT1 Achchuthan Shanmugasundram reviewed gene: POT1: Rating: RED; Mode of pathogenicity: Other; Publications: 27013236; Phenotypes: Coats Plus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PORCN Achchuthan Shanmugasundram reviewed gene: PORCN: Rating: GREEN; Mode of pathogenicity: ; Publications: 18325042, 17546031, 17546030; Phenotypes: FOCAL DERMAL HYPOPLASIA, OMIM:305600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 POMT2 Achchuthan Shanmugasundram reviewed gene: POMT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19299310, 19138766, 17878207, 16701995, 17634419, 17923109, 15894594; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A2, OMIM:613150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 POMT1 Achchuthan Shanmugasundram reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11053679, 19299310, 11320179, 17878207, 15037715, 14678799, 12369018, 31311558, 22549409, 16717220; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A1, OMIM:236670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 POMP Achchuthan Shanmugasundram reviewed gene: POMP: Rating: RED; Mode of pathogenicity: Other; Publications: 20226437; Phenotypes: KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA, OMIM:601952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 POMK Achchuthan Shanmugasundram reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: ; Publications: 32907597, 31833209, 24556084, 24925318; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 POMGNT2 Achchuthan Shanmugasundram reviewed gene: POMGNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22958903; Phenotypes: WALKER WARBERG SYNDROME, OMIM:614830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 POMGNT1 Achchuthan Shanmugasundram reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19299310, 12588800, 22419172, 17878207, 15236414, 11709191, 18195152, 19067344; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C3, OMIM:613157, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A3 (MDDGA3), OMIM:253280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 POLR3GL Achchuthan Shanmugasundram reviewed gene: POLR3GL: Rating: RED; Mode of pathogenicity: ; Publications: 31089205; Phenotypes: Endosteal Hyperostosis and Oligodontia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 POLR3B Achchuthan Shanmugasundram reviewed gene: POLR3B: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 33417887; Phenotypes: POLR3B-related neurodevelopmental disorder, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, OMIM:614381; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 POLR3A Achchuthan Shanmugasundram reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 21855841, 12605447, 22036171, 17159124, 30414627; Phenotypes: Autosomal Recessive Wiedemann Rautenstrauch Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 POLR2A Achchuthan Shanmugasundram reviewed gene: POLR2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33665635, 35461703, 31353023; Phenotypes: SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 POLR1D Achchuthan Shanmugasundram reviewed gene: POLR1D: Rating: GREEN; Mode of pathogenicity: ; Publications: 21131976; Phenotypes: TREACHER COLLINS SYNDROME TYPE 2, OMIM:613717; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 POLR1C Achchuthan Shanmugasundram reviewed gene: POLR1C: Rating: GREEN; Mode of pathogenicity: ; Publications: 21131976, 32042905, 26151409; Phenotypes: POLR1C-related Leukodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 POLR1A Achchuthan Shanmugasundram reviewed gene: POLR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25913037; Phenotypes: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, OMIM:616462; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 POLG Achchuthan Shanmugasundram reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A, OMIM:203700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 POLE Achchuthan Shanmugasundram reviewed gene: POLE: Rating: GREEN; Mode of pathogenicity: ; Publications: 30503519, 25948378, 35860951, 23230001; Phenotypes: IMAGe Syndrome with variable immunodeficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 POLD1 Achchuthan Shanmugasundram reviewed gene: POLD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23770608; Phenotypes: SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 POLA1 Achchuthan Shanmugasundram reviewed gene: POLA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31006512; Phenotypes: VAN ESCH-O'DRISCOLL SYNDROME, OMIM:301030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 POGZ Achchuthan Shanmugasundram reviewed gene: POGZ: Rating: GREEN; Mode of pathogenicity: ; Publications: 26942287, 25533962, 30879264, 27103995, 25694107, 26739615, 31782611, 31136090, 26763879, 32103003, 27148570, 28480548, 31347273; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 POC1B Achchuthan Shanmugasundram reviewed gene: POC1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 25018096; Phenotypes: AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 POC1A Achchuthan Shanmugasundram reviewed gene: POC1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 26336158, 22840364, 22440536, 22840363; Phenotypes: PRIMORDIAL DWARFISM, OMIM:615272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PNPT1 Achchuthan Shanmugasundram reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23084291; Phenotypes: RESPIRATORY CHAIN DISORDER, OMIM:614932, HEARING LOSS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PNPO Achchuthan Shanmugasundram reviewed gene: PNPO: Rating: GREEN; Mode of pathogenicity: ; Publications: 24266778, 26108646, 24645144, 25762494, 33981986, 24658933, 28818555, 27014579, 26303608, 26535729; Phenotypes: PNPO-related neonatal encephalopathy responsive to pyridoxal-5'-phosphate, OMIM:610090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PNPLA6 Achchuthan Shanmugasundram reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 25574898, 24355708, 25480986; Phenotypes: PNPLA6-related Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PNPLA2 Achchuthan Shanmugasundram reviewed gene: PNPLA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22832386, 17187067; Phenotypes: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, OMIM:610717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PNPLA1 Achchuthan Shanmugasundram reviewed gene: PNPLA1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CONGENITAL ICHTHYOSIS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PNKP Achchuthan Shanmugasundram reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: ; Publications: 25728773, 20118933; Phenotypes: ATAXIA-OCULOMOTOR APRAXIA 4, OMIM:616267; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PMS2 Achchuthan Shanmugasundram reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 7661930, 26318770; Phenotypes: MISMATCH REPAIR CANCER SYNDROME, OMIM:276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PMPCB Achchuthan Shanmugasundram reviewed gene: PMPCB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29576218; Phenotypes: Neurodegeneration in Early Childhood; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PMM2 Achchuthan Shanmugasundram reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 9887379, 10602363, 17307006, 10527672, 9781039, 9497260, 19235233, 9140401, 10801058, 11916319, 10922383; Phenotypes: CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PLXND1 Achchuthan Shanmugasundram reviewed gene: PLXND1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35396997, 24254849, 26068067; Phenotypes: MOEBIUS SYNDROME, PLXND1-related cardiac malformation syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PLXNA1 Achchuthan Shanmugasundram reviewed gene: PLXNA1: Rating: RED; Mode of pathogenicity: ; Publications: 34054129; Phenotypes: PLXNA1-associated neurodevelopmental disorder (biallelic), PLXNA1-associated neurodevelopmental disorder with seizures (monoallelic); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 PLPBP Achchuthan Shanmugasundram reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 27912044; Phenotypes: Vitamin-B6-Dependent Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PLP1 Achchuthan Shanmugasundram reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9056547, 8723686, 1384324, 11071483, 8786077, 7573159, 14452137, 8659540, 7574457, 8956049, 2773936, 1715570, 1605230, 7683951, 1720927, 8320699, 9489796, 17438221, 8696336, 2480601, 3827224, 1707231; Phenotypes: LEUKODYSTROPHY HYPOMYELINATING TYPE 1, OMIM:312080, SPASTIC PARAPLEGIA X-LINKED TYPE 2, OMIM:312920; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 PLOD3 Achchuthan Shanmugasundram reviewed gene: PLOD3: Rating: RED; Mode of pathogenicity: ; Publications: 18834968; Phenotypes: LYSYL HYDROXYLASE 3 DEFICIENCY, OMIM:612394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PLOD2 Achchuthan Shanmugasundram reviewed gene: PLOD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35278031, 15523624; Phenotypes: BRUCK SYNDROME TYPE 2, OMIM:609220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PLOD1 Achchuthan Shanmugasundram reviewed gene: PLOD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8163671, 5016372, 1345174, 9450904; Phenotypes: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC FORM, OMIM:225400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PLK4 Achchuthan Shanmugasundram reviewed gene: PLK4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25344692; Phenotypes: MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY, OMIM:616171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PLEC Achchuthan Shanmugasundram reviewed gene: PLEC: Rating: GREEN; Mode of pathogenicity: ; Publications: 35579050; Phenotypes: Epidermolysis Bullosa Simplex and limb-girdle muscular dystrophy, OMIM:613723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PLCH1 Achchuthan Shanmugasundram reviewed gene: PLCH1: Rating: RED; Mode of pathogenicity: Other; Publications: 33820834; Phenotypes: HPE-related disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PLCG2 Achchuthan Shanmugasundram reviewed gene: PLCG2: Rating: RED; Mode of pathogenicity: ; Publications: 23000145; Phenotypes: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, OMIM:614468, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED, OMIM:614878; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PLCE1 Achchuthan Shanmugasundram reviewed gene: PLCE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20591883, 17086182; Phenotypes: NEPHROTIC SYNDROME, TYPE 3, OMIM:610725; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PLCB4 Achchuthan Shanmugasundram reviewed gene: PLCB4: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: AURICULOCONDYLAR SYNDROME, OMIM:602483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PLCB1 Achchuthan Shanmugasundram reviewed gene: PLCB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20833646; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, OMIM:613722; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PLAA Achchuthan Shanmugasundram reviewed gene: PLAA: Rating: GREEN; Mode of pathogenicity: ; Publications: 28413018; Phenotypes: Lethal Infantile Epileptic Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PLA2G6 Achchuthan Shanmugasundram reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: INFANTILE NEUROAXONAL DYSTROPHY 1, OMIM:256600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PKHD1 Achchuthan Shanmugasundram reviewed gene: PKHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19021639, 12506140, 11919560; Phenotypes: POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE, OMIM:263200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PKD1L1 Achchuthan Shanmugasundram reviewed gene: PKD1L1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27616478, 35691949; Phenotypes: Laterality defects; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PITX3 Achchuthan Shanmugasundram reviewed gene: PITX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 15286169; Phenotypes: ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, OMIM:107250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PITX2 Achchuthan Shanmugasundram reviewed gene: PITX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11301317, 15591271, 11487566, 7581385, 8944018, 22224469, 8942889; Phenotypes: RING DERMOID OF CORNEA, OMIM:180550, AXENFELD-RIEGER SYNDROME TYPE 1, OMIM:180500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PITX1 Achchuthan Shanmugasundram reviewed gene: PITX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18950742, 22258522; Phenotypes: HOMEOTIC ARM-TO-LEG TRANSFORMATION ASSOCIATED WITH GENOMIC REARRANGEMENTS AT THE PITX1 LOCUS, CONGENITAL CLUBFOOT, OMIM:119800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PIP5K1C Achchuthan Shanmugasundram reviewed gene: PIP5K1C: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3, OMIM:611369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIK3R2 Achchuthan Shanmugasundram reviewed gene: PIK3R2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26860062, 22729224; Phenotypes: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OMIM:603387; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PIK3R1 Achchuthan Shanmugasundram reviewed gene: PIK3R1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23810379, 28472977, 23810378, 22351933; Phenotypes: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, OMIM:615214, SHORT SYNDROME, OMIM:269880; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 PIK3CA Achchuthan Shanmugasundram reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22658544, 22729224; Phenotypes: HEMIMEGALENCEPHALY PIK3CA, CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, OMIM:612918, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3, OMIM:602501; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PIH1D3 Achchuthan Shanmugasundram reviewed gene: PIH1D3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28041644, 28176794; Phenotypes: X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 PIGY Achchuthan Shanmugasundram reviewed gene: PIGY: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26293662; Phenotypes: Glycosylphosphatidylinositol deficiency, OMIM:610293; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIGW Achchuthan Shanmugasundram reviewed gene: PIGW: Rating: RED; Mode of pathogenicity: Other; Publications: 24367057; Phenotypes: HYPERPHOSPHATASIA WITH INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME 5, OMIM:616025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIGV Achchuthan Shanmugasundram reviewed gene: PIGV: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17351347, 20802478; Phenotypes: HYPERPHOSPHATASIA WITH INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:239300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIGU Achchuthan Shanmugasundram reviewed gene: PIGU: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31353022; Phenotypes: Intellectual Disability, Central Nervous System anomalies and Scoliosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIGT Achchuthan Shanmugasundram reviewed gene: PIGT: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23636107, 24906948; Phenotypes: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, OMIM:615398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIGS Achchuthan Shanmugasundram reviewed gene: PIGS: Rating: GREEN; Mode of pathogenicity: ; Publications: 30269814; Phenotypes: Neurological Syndrome Fetal Akinesia /Epileptic Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIGQ Achchuthan Shanmugasundram reviewed gene: PIGQ: Rating: RED; Mode of pathogenicity: ; Publications: 24463883; Phenotypes: SEVERE EARLY-ONSET EPILEPSY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIGO Achchuthan Shanmugasundram reviewed gene: PIGO: Rating: GREEN; Mode of pathogenicity: ; Publications: 22683086; Phenotypes: HYPERPHOSPHATASIA WITH INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME 2, OMIM:614749; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIGN Achchuthan Shanmugasundram reviewed gene: PIGN: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21493957, 36322149; Phenotypes: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME, OMIM:614080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIGM Achchuthan Shanmugasundram reviewed gene: PIGM: Rating: RED; Mode of pathogenicity: Other; Publications: 16767100; Phenotypes: Glycosylphosphatidylinositol deficiency, OMIM:610293; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIGL Achchuthan Shanmugasundram reviewed gene: PIGL: Rating: GREEN; Mode of pathogenicity: ; Publications: 22444671; Phenotypes: ZUNICH NEUROECTODERMAL SYNDROME, OMIM:280000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIGK Achchuthan Shanmugasundram reviewed gene: PIGK: Rating: GREEN; Mode of pathogenicity: ; Publications: 32220290; Phenotypes: PIGK-associated Neurodevelopmental Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIGH Achchuthan Shanmugasundram reviewed gene: PIGH: Rating: GREEN; Mode of pathogenicity: ; Publications: 29603516, 29573052; Phenotypes: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17, OMIM:618010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIGG Achchuthan Shanmugasundram reviewed gene: PIGG: Rating: GREEN; Mode of pathogenicity: ; Publications: 26996948; Phenotypes: Intellectual Disability with Seizures and Hypotonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIGB Achchuthan Shanmugasundram reviewed gene: PIGB: Rating: GREEN; Mode of pathogenicity: ; Publications: 31256876; Phenotypes: Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIGA Achchuthan Shanmugasundram reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: ; Publications: 22305531; Phenotypes: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, OMIM:300868; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 PIEZO2 Achchuthan Shanmugasundram reviewed gene: PIEZO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27974811, 27653382, 27912047, 24726473; Phenotypes: Ataxia, dysmetria, contractures & scoliosis with normal cognition but loss of discriminative touch perception, ARTHROGRYPOSIS, DISTAL, TYPE 3, OMIM:114300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 PIEZO1 Achchuthan Shanmugasundram reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26387913; Phenotypes: Congenital lymphatic dysplasia with hydrops and/or lymphoedema; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIDD1 Achchuthan Shanmugasundram reviewed gene: PIDD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33414379; Phenotypes: PIDD1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PIBF1 Achchuthan Shanmugasundram reviewed gene: PIBF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29695797, 26167768; Phenotypes: JOUBERT SYNDROME 33, OMIM:617767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PI4KA Achchuthan Shanmugasundram reviewed gene: PI4KA: Rating: GREEN; Mode of pathogenicity: ; Publications: 34415310, 34415322, 25855803; Phenotypes: PI4KA-associated polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PHOX2B Achchuthan Shanmugasundram reviewed gene: PHOX2B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16691592, 16888290, 12640453, 12438263, 15024693; Phenotypes: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, OMIM:209880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PHIP Achchuthan Shanmugasundram reviewed gene: PHIP: Rating: GREEN; Mode of pathogenicity: ; Publications: 23033978, 29209020; Phenotypes: Developmental delay, ID, obesity and dysmorphic features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PHGDH Achchuthan Shanmugasundram reviewed gene: PHGDH: Rating: GREEN; Mode of pathogenicity: ; Publications: 11055895, 11034457, 24836451, 19235232; Phenotypes: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, OMIM:601815; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PHF8 Achchuthan Shanmugasundram reviewed gene: PHF8: Rating: GREEN; Mode of pathogenicity: ; Publications: 10398231, 17594395, 16199551, 17661819; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED SIDERIUS TYPE, OMIM:300263; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 PHF6 Achchuthan Shanmugasundram reviewed gene: PHF6: Rating: GREEN; Mode of pathogenicity: ; Publications: 35662002, 15466013, 12415272, 15994862; Phenotypes: BOERJESON-FORSSMAN-LEHMANN SYNDROME, OMIM:301900; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 PHF21A Achchuthan Shanmugasundram reviewed gene: PHF21A: Rating: GREEN; Mode of pathogenicity: ; Publications: 36843358, 36876344; Phenotypes: POTOCKI-SHAFFER SYNDROME, OMIM:601224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PHC1 Achchuthan Shanmugasundram reviewed gene: PHC1: Rating: RED; Mode of pathogenicity: Other; Publications: 23418308; Phenotypes: PRIMARY MICROCEPHALY, OMIM:615414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PHACTR1 Achchuthan Shanmugasundram reviewed gene: PHACTR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23033978, 30256902; Phenotypes: PHACTR1-associated neurodevelopment disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PGM3 Achchuthan Shanmugasundram reviewed gene: PGM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 24931394; Phenotypes: IMMUNODEFICIENCY 23, OMIM:615816; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PGM2L1 Achchuthan Shanmugasundram reviewed gene: PGM2L1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33979636; Phenotypes: PGM2L1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PGM1 Achchuthan Shanmugasundram reviewed gene: PGM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19625727; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, OMIM:614921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PGK1 Achchuthan Shanmugasundram reviewed gene: PGK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16567715, 9512313, 1586722, 8673469, 1547346, 6933565, 16740138, 19157875, 9744480, 6941312; Phenotypes: PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, OMIM:300653; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 PGAP3 Achchuthan Shanmugasundram reviewed gene: PGAP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 24439110; Phenotypes: HYPERPHOSPHATASIA WITH INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME 4, OMIM:615716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PGAP2 Achchuthan Shanmugasundram reviewed gene: PGAP2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PGAP1 Achchuthan Shanmugasundram reviewed gene: PGAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25804403, 26050939, 24784135; Phenotypes: Intellectual disability, encephalopathy, impaired GPI-anchor maturation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PEX7 Achchuthan Shanmugasundram reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: ; Publications: 9090381, 9090382, 10083738, 12325024, 9090383; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 11, OMIM:601757; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PEX6 Achchuthan Shanmugasundram reviewed gene: PEX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 4, OMIM:601498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PEX5 Achchuthan Shanmugasundram reviewed gene: PEX5: Rating: GREEN; Mode of pathogenicity: ; Publications: 7719337; Phenotypes: ZELLWEGER SYNDROME, OMIM:214100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PEX3 Achchuthan Shanmugasundram reviewed gene: PEX3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 12, OMIM:603164; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PEX26 Achchuthan Shanmugasundram reviewed gene: PEX26: Rating: GREEN; Mode of pathogenicity: ; Publications: 12851857; Phenotypes: ZELLWEGER SYNDROME, OMIM:214100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PEX2 Achchuthan Shanmugasundram reviewed gene: PEX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 14630978, 10528859; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 5, OMIM:170993; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PEX19 Achchuthan Shanmugasundram reviewed gene: PEX19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ZELLWEGER SYNDROME, OMIM:214100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PEX16 Achchuthan Shanmugasundram reviewed gene: PEX16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9, OMIM:603360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PEX14 Achchuthan Shanmugasundram reviewed gene: PEX14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K, OMIM:601791; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PEX13 Achchuthan Shanmugasundram reviewed gene: PEX13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 13, OMIM:601789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PEX12 Achchuthan Shanmugasundram reviewed gene: PEX12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3, OMIM:601758; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PEX11B Achchuthan Shanmugasundram reviewed gene: PEX11B: Rating: GREEN; Mode of pathogenicity: ; Publications: 28129423, 22581968; Phenotypes: Peroxisome biogenesis disorder 14B, OMIM:614920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PEX10 Achchuthan Shanmugasundram reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7, OMIM:602859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PEX1 Achchuthan Shanmugasundram reviewed gene: PEX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9398847; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1, OMIM:602136; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PET100 Achchuthan Shanmugasundram reviewed gene: PET100: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX IV DEFICIENCY, OMIM:220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PEPD Achchuthan Shanmugasundram reviewed gene: PEPD: Rating: GREEN; Mode of pathogenicity: ; Publications: 8900231, 1972707, 19308961, 17142620, 16470701, 2365824, 6637477, 15309682; Phenotypes: PROLIDASE DEFICIENCY, OMIM:170100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PECR Achchuthan Shanmugasundram reviewed gene: PECR: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PDSS2 Achchuthan Shanmugasundram reviewed gene: PDSS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17186472; Phenotypes: COENZYME Q10 DEFICIENCY, PRIMARY, 3, OMIM:614652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PDSS1 Achchuthan Shanmugasundram reviewed gene: PDSS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17332895; Phenotypes: COENZYME Q10 DEFICIENCY, PRIMARY, 2, OMIM:614651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PDIA6 Achchuthan Shanmugasundram reviewed gene: PDIA6: Rating: RED; Mode of pathogenicity: ; Publications: 33495992, 35856135; Phenotypes: PDIA6-associated syndromic neonatal diabetes and asphyxiating thoracic dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PDHX Achchuthan Shanmugasundram reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 17152059, 16566017, 11935326, 9399911, 8584393, 12557299, 8229524, 9467010; Phenotypes: LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, OMIM:245349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PDHA1 Achchuthan Shanmugasundram reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8199595, 1909778, 1909401, 3137520, 10486093, 1293379, 12379317, 9686362, 7573035, 1907799, 2378353, 2537010, 8771169, 8032855; Phenotypes: INTELLECTUAL DISABILTIY, OMIM:312170, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES, OMIM:312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 PDGFRB Achchuthan Shanmugasundram reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30941910, 32291752, 29226947, 26279204, 28639748, 23731542, 25454926; Phenotypes: FAMILIAL INFANTILE MYOFIBROMATOSIS, OMIM:228550, KOSAKI OVERGROWTH SYNDROME, OMIM:616592, PREMATURE AGING SYNDROME, PENTTINEN TYPE, OMIM:601812; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PDE6H Achchuthan Shanmugasundram reviewed gene: PDE6H: Rating: GREEN; Mode of pathogenicity: ; Publications: 27472364, 22901948, 15629837; Phenotypes: ACHROMATOPSIA, RETINAL CONE DYSTROPHY 3 PDE6H, OMIM:610024; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PDE6G Achchuthan Shanmugasundram reviewed gene: PDE6G: Rating: GREEN; Mode of pathogenicity: ; Publications: 20655036; Phenotypes: RETINITIS PIGMENTOSA 57, OMIM:613582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PDE4D Achchuthan Shanmugasundram reviewed gene: PDE4D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22464250, 22464252, 23033274; Phenotypes: ACRODYSOSTOSIS, OMIM:101800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PDE10A Achchuthan Shanmugasundram reviewed gene: PDE10A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27058447; Phenotypes: Childhood-Onset Chorea with Bilateral Striatal Lesions; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PDCD10 Achchuthan Shanmugasundram reviewed gene: PDCD10: Rating: GREEN; Mode of pathogenicity: ; Publications: 16380626, 15543491; Phenotypes: CEREBRAL CAVERNOUS MALFORMATIONS TYPE 3, OMIM:603285; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PCYT2 Achchuthan Shanmugasundram reviewed gene: PCYT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32889549, 31637422; Phenotypes: COMPLEX HEREDITARY SPASTIC PARAPLEGIA, OMIM:615033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PCYT1A Achchuthan Shanmugasundram reviewed gene: PCYT1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 28272537, 24387990, 24387991; Phenotypes: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, OMIM:608940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PCNT Achchuthan Shanmugasundram reviewed gene: PCNT: Rating: GREEN; Mode of pathogenicity: ; Publications: 18174396, 15372530, 19839044; Phenotypes: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, OMIM:210720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PCGF2 Achchuthan Shanmugasundram reviewed gene: PCGF2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30526864; Phenotypes: Craniofacial Neurological Cardiovascular and Skeletal Features, INTELLECTUAL DISABILITY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PCDHGC4 Achchuthan Shanmugasundram reviewed gene: PCDHGC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 34244665; Phenotypes: PCDHGC4-related neurodevelopmental disorder with microcephaly and seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PCDH19 Achchuthan Shanmugasundram reviewed gene: PCDH19: Rating: GREEN; Mode of pathogenicity: ; Publications: 18469813, 19752159, 5116697, 19214208; Phenotypes: EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9, OMIM:300088; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 PCDH12 Achchuthan Shanmugasundram reviewed gene: PCDH12: Rating: GREEN; Mode of pathogenicity: ; Publications: 28804758, 27164683, 30178464, 29556033, 30459466; Phenotypes: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1, OMIM:251280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PCCB Achchuthan Shanmugasundram reviewed gene: PCCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PROPIONIC ACIDEMIA, OMIM:606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PCCA Achchuthan Shanmugasundram reviewed gene: PCCA: Rating: GREEN; Mode of pathogenicity: ; Publications: 12189489, 8225321, 10101253, 8411997, 9683601, 9385377, 10820128, 9887338, 17966092, 8295402; Phenotypes: PROPIONIC ACIDEMIA, OMIM:606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PCBP2 Achchuthan Shanmugasundram reviewed gene: PCBP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: PCBP2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PCBD1 Achchuthan Shanmugasundram reviewed gene: PCBD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9585615, 8352282; Phenotypes: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, OMIM:264070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PC Achchuthan Shanmugasundram reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: ; Publications: 9585002, 9585612, 19306334, 12112657; Phenotypes: PYRUVATE CARBOXYLASE DEFICIENCY, OMIM:266150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PBX1 Achchuthan Shanmugasundram reviewed gene: PBX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35451537; Phenotypes: PBX1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PAX9 Achchuthan Shanmugasundram reviewed gene: PAX9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: TOOTH AGENESIS, SELECTIVE, 3, OMIM:604625; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PAX8 Achchuthan Shanmugasundram reviewed gene: PAX8: Rating: GREEN; Mode of pathogenicity: ; Publications: 11232006, 15356023, 11502839, 15718293, 9590296; Phenotypes: CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2, OMIM:218700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PAX6 Achchuthan Shanmugasundram reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: ; Publications: 17595013, 7668281, 12721955, 9931324, 15629294, 17148041; Phenotypes: ANIRIDIA, OMIM:106210, PETERS ANOMALY, OMIM:604229; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PAX3 Achchuthan Shanmugasundram reviewed gene: PAX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 20478267, 8490648, 7726174, 8664898, 1347148, 35607853, 26443304, 12949970, 14556253, 1303193, 1308353, 8447316, 1887852; Phenotypes: Waardenburg syndrome type 3, WAARDENBURG SYNDROME, TYPE 1, OMIM:193500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 PAX2 Achchuthan Shanmugasundram reviewed gene: PAX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 3377002, 9106533, 9760197, 2644560, 7795640, 11461952, 11093271; Phenotypes: RENAL-COLOBOMA SYNDROME, OMIM:120330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PAX1 Achchuthan Shanmugasundram reviewed gene: PAX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23851939, 28657137, 29681087; Phenotypes: OTOFACIOCERVICAL SYNDROME, OMIM:166780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PARP1 Achchuthan Shanmugasundram reviewed gene: PARP1: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PARN Achchuthan Shanmugasundram reviewed gene: PARN: Rating: GREEN; Mode of pathogenicity: ; Publications: 25893599; Phenotypes: Dyskeratosis congenita, autosomal recessive 6, OMIM:616353; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PAPSS2 Achchuthan Shanmugasundram reviewed gene: PAPSS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 9714015, 22791835, 19474428; Phenotypes: SPONDYLOEPIMETAPHYSEAL DYSPLASIA PAKISTANI TYPE, OMIM:612847; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PAN2 Achchuthan Shanmugasundram reviewed gene: PAN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35304602; Phenotypes: PAN2-related neurodevelopmental disorder with multiple congenital anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PALB2 Achchuthan Shanmugasundram reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17200672, 17200671; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP N, OMIM:610832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PAK3 Achchuthan Shanmugasundram reviewed gene: PAK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 12884430, 18523455, 8826460, 17853471, 24556213, 9332663; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 30, OMIM:300558, AGENESIS OF THE CORPUS CALLOSUM; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 PAK1 Achchuthan Shanmugasundram reviewed gene: PAK1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30290153; Phenotypes: Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PAH Achchuthan Shanmugasundram reviewed gene: PAH: Rating: GREEN; Mode of pathogenicity: ; Publications: 1671810, 2816939, 8098245, 1975559, 1301200, 1301947, 8829656, 1301201, 2840952, 2014802, 1709636, 2044609, 2564729, 8097261, 11935335, 2035532, 2573272, 2071149, 2309142, 9950317, 1769645, 1671881, 1360590, 1997387, 1363838, 3008810, 1301193, 1363837, 1312992, 7981714, 1358789, 8364546, 1349576, 2606484, 2574002, 1682235, 2884570, 1679030, 8088845; Phenotypes: NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA, OMIM:261600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 PAFAH1B1 Achchuthan Shanmugasundram reviewed gene: PAFAH1B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15007136, 10441340, 11502906, 14581661; Phenotypes: LISSENCEPHALY TYPE 1, OMIM:607432; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PACS2 Achchuthan Shanmugasundram reviewed gene: PACS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28867141, 30290155; Phenotypes: Unspecified Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 PACS1 Achchuthan Shanmugasundram reviewed gene: PACS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23159249; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 P4HTM Achchuthan Shanmugasundram reviewed gene: P4HTM: Rating: GREEN; Mode of pathogenicity: ; Publications: 35908151, 34285383, 30940925, 32965080; Phenotypes: Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, OMIM:618493; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 P4HB Achchuthan Shanmugasundram reviewed gene: P4HB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25683117; Phenotypes: COLE-CARPENTER SYNDROME, OMIM:112240; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 P3H1 Achchuthan Shanmugasundram reviewed gene: P3H1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19088120, 17277775; Phenotypes: OSTEOGENESIS IMPERFECTA, TYPE VIII, OMIM:610915; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 OXR1 Achchuthan Shanmugasundram reviewed gene: OXR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31785787; Phenotypes: Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 OXCT1 Achchuthan Shanmugasundram reviewed gene: OXCT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10964512, 23281106, 1405472, 9671268; Phenotypes: SUCCINYL-COA-3-KETOACID-COA TRANSFERASE DEFICIENCY, OMIM:245050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 OTX2 Achchuthan Shanmugasundram reviewed gene: OTX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15846561, 26974134, 28388256, 27299576, 20396904, 18628516, 19956411, 19965921, 18854396; Phenotypes: MICROPHTHALMIA SYNDROMIC TYPE 5, OMIM:610125; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 OTULIN Achchuthan Shanmugasundram reviewed gene: OTULIN: Rating: GREEN; Mode of pathogenicity: ; Publications: 27523608, 27686184, 27559085; Phenotypes: Otulin-related auto inflammatory syndrome, OMIM:617099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 OTUD7A Achchuthan Shanmugasundram reviewed gene: OTUD7A: Rating: RED; Mode of pathogenicity: ; Publications: 29395074; Phenotypes: 15q13.3 deletions phenocopy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 OTUD6B Achchuthan Shanmugasundram reviewed gene: OTUD6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 28343629; Phenotypes: Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 OTUD5 Achchuthan Shanmugasundram reviewed gene: OTUD5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33748114, 33131077, 33523931; Phenotypes: OTUD5-associated neurodevelopmental disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 OTOGL Achchuthan Shanmugasundram reviewed gene: OTOGL: Rating: GREEN; Mode of pathogenicity: ; Publications: 23122586; Phenotypes: MODERATE SENSORINEURAL HEARING LOSS, OMIM:614944; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 OTC Achchuthan Shanmugasundram reviewed gene: OTC: Rating: GREEN; Mode of pathogenicity: ; Publications: 1480464, 7860064, 2347583, 3170748, 2037279, 9056557, 2035531, 11260212, 10405441, 1721894, 1353535, 2843770; Phenotypes: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, OMIM:311250; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 OSGEP Achchuthan Shanmugasundram reviewed gene: OSGEP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28805828; Phenotypes: Nephrotic syndrome with primary microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ORC6 Achchuthan Shanmugasundram reviewed gene: ORC6: Rating: GREEN; Mode of pathogenicity: ; Publications: 7710253; Phenotypes: MEIER-GORLIN SYNDROME 3, OMIM:613803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ORC4 Achchuthan Shanmugasundram reviewed gene: ORC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 11477602; Phenotypes: MEIER-GORLIN SYNDROME 2, OMIM:613800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ORC1 Achchuthan Shanmugasundram reviewed gene: ORC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21358633; Phenotypes: MEIER-GORLIN SYNDROME 1, OMIM:224690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 OPHN1 Achchuthan Shanmugasundram reviewed gene: OPHN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20528889, 12805098, 12807966, 9582072, 16158428; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED OPHN1-RELATED, OMIM:300486; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 ONECUT1 Achchuthan Shanmugasundram reviewed gene: ONECUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34663987; Phenotypes: ONECUT1-associated neonatal diabetes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 OGT Achchuthan Shanmugasundram reviewed gene: OGT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: OGT-related developmental disorder (hemizygous), OGT-related developmental disorder (X-linked dominant); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 OGDHL Achchuthan Shanmugasundram reviewed gene: OGDHL: Rating: GREEN; Mode of pathogenicity: ; Publications: 34800363; Phenotypes: OGDHL-related neurodevelopmental disorder with seizures, hearing loss and gait ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 OGDH Achchuthan Shanmugasundram reviewed gene: OGDH: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36520152, 32383294; Phenotypes: OGDH-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 OFD1 Achchuthan Shanmugasundram reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11950863, 15221448, 19800048, 9482645, 22353940, 16783569, 11179005, 9198060; Phenotypes: ORAL-FACIAL-DIGITAL SYNDROME TYPE 1, OMIM:311200, JOUBERT SYNDROME TYPE 10, OMIM:300804; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 ODC1 Achchuthan Shanmugasundram reviewed gene: ODC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ODC1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 OCRL Achchuthan Shanmugasundram reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: ; Publications: 15627218, 9632163, 9199559; Phenotypes: DENT DISEASE TYPE 2, OMIM:300555, LOWE OCULOCEREBRORENAL SYNDROME, OMIM:309000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 OCLN Achchuthan Shanmugasundram reviewed gene: OCLN: Rating: GREEN; Mode of pathogenicity: ; Publications: 32240828, 26689621, 20727516, 28179633; Phenotypes: OCLN-associated Band-like Calcification with Simplified Gyration and Polymicrogyria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 OBSL1 Achchuthan Shanmugasundram reviewed gene: OBSL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19481195; Phenotypes: 3-M SYNDROME 2, OMIM:612921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NYX Achchuthan Shanmugasundram reviewed gene: NYX: Rating: GREEN; Mode of pathogenicity: ; Publications: 11062471, 11062472, 16670814; Phenotypes: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A, OMIM:310500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 NUS1 Achchuthan Shanmugasundram reviewed gene: NUS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29100083; Phenotypes: Epilepsy and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NUP62 Achchuthan Shanmugasundram reviewed gene: NUP62: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16786527; Phenotypes: INFANTILE STRIATONIGRAL DEGENERATION, OMIM:271930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NUP54 Achchuthan Shanmugasundram reviewed gene: NUP54: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36333996; Phenotypes: NUP54-related early-onset dystonia with striatal lesions; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NUP214 Achchuthan Shanmugasundram reviewed gene: NUP214: Rating: GREEN; Mode of pathogenicity: ; Publications: 31178128; Phenotypes: Acute Febrile Encephalopathy, OMIM:618426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NUP133 Achchuthan Shanmugasundram reviewed gene: NUP133: Rating: GREEN; Mode of pathogenicity: ; Publications: 30427554; Phenotypes: GALLOWAY-MOWAT SYNDROME 8, OMIM:618349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NUP107 Achchuthan Shanmugasundram reviewed gene: NUP107: Rating: RED; Mode of pathogenicity: ; Publications: 28280135, 26411495; Phenotypes: GALLOWAY-MOWAT SYNDROME 7, OMIM:618348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NUDT2 Achchuthan Shanmugasundram reviewed gene: NUDT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30059600, 27431290, 33058507; Phenotypes: NUDT2-related Developmental Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NUBPL Achchuthan Shanmugasundram reviewed gene: NUBPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NTRK2 Achchuthan Shanmugasundram reviewed gene: NTRK2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100083; Phenotypes: Epilepsy and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NTRK1 Achchuthan Shanmugasundram reviewed gene: NTRK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10233776, 19250380, 10330344, 8145823, 10982191, 8696348, 10090906, 10861667; Phenotypes: CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS, OMIM:256800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NTNG2 Achchuthan Shanmugasundram reviewed gene: NTNG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31372774, 31668703; Phenotypes: Developmental delay, hypotonia, and autistic features; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NT5C3A Achchuthan Shanmugasundram reviewed gene: NT5C3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY, OMIM:266120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NSUN2 Achchuthan Shanmugasundram reviewed gene: NSUN2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22541559, 22577224, 21063731, 22541562; Phenotypes: AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5, OMIM:611091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NSRP1 Achchuthan Shanmugasundram reviewed gene: NSRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34385670; Phenotypes: NSRP1-associated developmental delay, epilepsy and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NSMCE3 Achchuthan Shanmugasundram reviewed gene: NSMCE3: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: DISTINCT DNA BREAKAGE SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NSDHL Achchuthan Shanmugasundram reviewed gene: NSDHL: Rating: GREEN; Mode of pathogenicity: ; Publications: 19377476, 11907515, 19842190, 10710235; Phenotypes: CK SYNDROME, OMIM:300831, CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS, OMIM:308050; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 NSD2 Achchuthan Shanmugasundram reviewed gene: NSD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: NSD2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NSD1 Achchuthan Shanmugasundram reviewed gene: NSD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16222665, 12525543, 11896389; Phenotypes: SOTOS SYNDROME, OMIM:117550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NRXN3 Achchuthan Shanmugasundram reviewed gene: NRXN3: Rating: RED; Mode of pathogenicity: ; Publications: 22209245; Phenotypes: AUTISM, OMIM:209850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NRXN2 Achchuthan Shanmugasundram reviewed gene: NRXN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: AUTISM, OMIM:209850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NRXN1 Achchuthan Shanmugasundram reviewed gene: NRXN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22405623, 30031152, 30873608, 28289584, 27195815, 23495017; Phenotypes: PITT HOPKINS 2, AUTISM, OMIM:209850; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 NRROS Achchuthan Shanmugasundram reviewed gene: NRROS: Rating: GREEN; Mode of pathogenicity: ; Publications: 32197075; Phenotypes: NRROS-related Infantile-Onset Neurodegeneration with Intracranial Calcification; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NRCAM Achchuthan Shanmugasundram reviewed gene: NRCAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 35108495; Phenotypes: NRCAM neurodevelopmental disorder with dysmorphic features, hypotonia and spasticity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NRAS Achchuthan Shanmugasundram reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19966803; Phenotypes: NOONAN SYNDROME TYPE 6, OMIM:613224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NR4A2 Achchuthan Shanmugasundram reviewed gene: NR4A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: NR4A2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NR2F2 Achchuthan Shanmugasundram reviewed gene: NR2F2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24702954; Phenotypes: CONGENITAL HEART DEFECTS and XX sex reversal; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NR2F1 Achchuthan Shanmugasundram reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24462372, 26986877; Phenotypes: BOSCH-BOONSTRA OPTIC ATROPHY SYNDROME, OMIM:615722; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NR1I3 Achchuthan Shanmugasundram reviewed gene: NR1I3: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: EHMT1-LIKE INTELLECTUAL DISABILITY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NPR3 Achchuthan Shanmugasundram reviewed gene: NPR3: Rating: GREEN; Mode of pathogenicity: ; Publications: 30032985; Phenotypes: Enhanced Growth and Connective Tissue Abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NPR2 Achchuthan Shanmugasundram reviewed gene: NPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15146390; Phenotypes: ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE, OMIM:602875; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NPM1 Achchuthan Shanmugasundram reviewed gene: NPM1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31570891; Phenotypes: Dyskeratosis Congenita; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NPHS2 Achchuthan Shanmugasundram reviewed gene: NPHS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 8589695, 8606597, 12464671, 10742096; Phenotypes: NEPHROTIC SYNDROME, TYPE 2, OMIM:600995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NPHS1 Achchuthan Shanmugasundram reviewed gene: NPHS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9660941, 10652016, 10577936, 17290294, 11854170; Phenotypes: NEPHROTIC SYNDROME TYPE 1, OMIM:256300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NPHP4 Achchuthan Shanmugasundram reviewed gene: NPHP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 12244321; Phenotypes: NEPHRONOPHTHISIS TYPE 4, OMIM:606966; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NPHP3 Achchuthan Shanmugasundram reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19303681, 12872122; Phenotypes: NEPHRONOPHTHISIS TYPE 3, OMIM:604387; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NPHP1 Achchuthan Shanmugasundram reviewed gene: NPHP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9326933, 9382140, 8852662, 10839884; Phenotypes: NEPHRONOPHTHISIS TYPE 1, OMIM:256100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NPC2 Achchuthan Shanmugasundram reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12447927, 17470133, 11125141, 11567215; Phenotypes: NIEMANN-PICK DISEASE, TYPE C2, OMIM:607625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NPC1 Achchuthan Shanmugasundram reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11333381, 9211849, 12554680, 10521297, 10480349, 11479732, 11349231, 9245994; Phenotypes: NIEMANN-PICK DISEASE, TYPE C1, OMIM:257220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NOVA2 Achchuthan Shanmugasundram reviewed gene: NOVA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32197073; Phenotypes: Intellectual disability with ataxia/spasticity; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NOTCH3 Achchuthan Shanmugasundram reviewed gene: NOTCH3: Rating: RED; Mode of pathogenicity: Other; Publications: 23731542; Phenotypes: INFANTILE MYOFIBROMATOSIS, OMIM:615293; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NOTCH2 Achchuthan Shanmugasundram reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21378985, 21378989, 21712856; Phenotypes: HAJDU-CHENEY SYNDROME, OMIM:102500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NOTCH1 Achchuthan Shanmugasundram reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25132448, 16025100; Phenotypes: LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION, OMIM:109730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NOP10 Achchuthan Shanmugasundram reviewed gene: NOP10: Rating: RED; Mode of pathogenicity: Other; Publications: 17507419; Phenotypes: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, OMIM:224230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NONO Achchuthan Shanmugasundram reviewed gene: NONO: Rating: GREEN; Mode of pathogenicity: ; Publications: 36426740, 26571461, 27329731; Phenotypes: SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 NOG Achchuthan Shanmugasundram reviewed gene: NOG: Rating: GREEN; Mode of pathogenicity: ; Publications: 12089654, 15770128, 17668388, 11846737, 10069712, 11545688, 20503332; Phenotypes: NOG-related-symphalangism spectrum disorder , OMIM:186500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NODAL Achchuthan Shanmugasundram reviewed gene: NODAL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HETEROTAXY SYNDROME, OMIM:207574; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NMNAT1 Achchuthan Shanmugasundram reviewed gene: NMNAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22842229, 24830548, 26464178, 22842227, 26316326, 24940029, 12734549, 22842230; Phenotypes: LEBER CONGENITAL AMAUROSIS, OMIM:608553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NLGN4X Achchuthan Shanmugasundram reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: SUSCEPTIBILITY TO AUTISM X-LINKED TYPE 2, OMIM:300495; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 NLGN3 Achchuthan Shanmugasundram reviewed gene: NLGN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 12669065; Phenotypes: AUTISM SPECTRUM DISORDERS, OMIM:198890; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 NKX6-2 Achchuthan Shanmugasundram reviewed gene: NKX6-2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28575651; Phenotypes: Progressive Spastic Ataxia and Hypomyelination; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NKX3-2 Achchuthan Shanmugasundram reviewed gene: NKX3-2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, OMIM:613330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NKX2-5 Achchuthan Shanmugasundram reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: ; Publications: 19948535, 16418214, 11714651, 20807224; Phenotypes: ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS, OMIM:108900, TETRALOGY OF FALLOT, OMIM:187500, CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 5, OMIM:225250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NKX2-1 Achchuthan Shanmugasundram reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15289765; Phenotypes: CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, OMIM:610978; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NKAP Achchuthan Shanmugasundram reviewed gene: NKAP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31587868; Phenotypes: Marfanoid Habitus and Cognitive Impairment; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 NIPBL Achchuthan Shanmugasundram reviewed gene: NIPBL: Rating: GREEN; Mode of pathogenicity: ; Publications: 15318302, 15146185, 11391654, 15146186, 16799922, 35446447; Phenotypes: CORNELIA DE LANGE SYNDROME TYPE 1, OMIM:122470; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NHS Achchuthan Shanmugasundram reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: ; Publications: 15623749, 14564667, 458526, 2246772, 19414485, 11836358; Phenotypes: NANCE-HORAN SYNDROME, OMIM:302350; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 NHP2 Achchuthan Shanmugasundram reviewed gene: NHP2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 18523010; Phenotypes: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, OMIM:613987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NHLRC2 Achchuthan Shanmugasundram reviewed gene: NHLRC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34165204, 32435055, 29423877; Phenotypes: NHLRC2-related fibrosis, neurodegeneration, and cerebral angiomatosis, OMIM:618278; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NGLY1 Achchuthan Shanmugasundram reviewed gene: NGLY1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24651605; Phenotypes: CONGENITAL DISORDER OF DEGLYCOSYLATION, OMIM:615273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NFU1 Achchuthan Shanmugasundram reviewed gene: NFU1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11156534, 22077971; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, OMIM:605711; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NFIX Achchuthan Shanmugasundram reviewed gene: NFIX: Rating: GREEN; Mode of pathogenicity: ; Publications: 22301465, 20673863, 29897170; Phenotypes: MARSHALL-SMITH SYNDROME, OMIM:602535; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NFIB Achchuthan Shanmugasundram reviewed gene: NFIB: Rating: GREEN; Mode of pathogenicity: ; Publications: 30388402; Phenotypes: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT, OMIM:618286; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NFIA Achchuthan Shanmugasundram reviewed gene: NFIA: Rating: GREEN; Mode of pathogenicity: ; Publications: 17530927; Phenotypes: Macrocephaly with intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NFE2L2 Achchuthan Shanmugasundram reviewed gene: NFE2L2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29018201; Phenotypes: NFE2L2-related leukoencephalopathy, immune deficiency and hypohomocysteinaemia, OMIM:617744; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NF1 Achchuthan Shanmugasundram reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11258625, 1745350, 9529361, 12483293, 10712197, 1937470, 12438263, 9003501, 1302608, 1783401, 12707950, 15523642, 15520408, 7655472, 9668168, 11704931, 10677298, 30308447, 7633431, 13680360, 8317503, 8664912, 1719426, 1568247, 19449407, 19845691, 15948193; Phenotypes: NEUROFIBROMATOSIS TYPE 1, OMIM:162200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NEXMIF Achchuthan Shanmugasundram reviewed gene: NEXMIF: Rating: GREEN; Mode of pathogenicity: ; Publications: 33144681, 23615299, 26576034, 15466006, 27568816, 27358180; Phenotypes: NEXMIF-related Intellectual disability and epilepsy (XLR), OMIM:300912, NEXMIF-related Intellectual disability and epilepsy (XLD); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 NEU1 Achchuthan Shanmugasundram reviewed gene: NEU1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11829139, 11702224, 10944856, 14695530, 10767332, 8985184, 11470272, 9054950; Phenotypes: SIALIDOSIS, OMIM:256550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NEK8 Achchuthan Shanmugasundram reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: ; Publications: 18199800, 23418306; Phenotypes: NEPHRONOPHTHISIS 9, OMIM:613824, RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, OMIM:615415; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NEK1 Achchuthan Shanmugasundram reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SHORT RIB-POLYDACTYLY SYNDORME, TYPE II, OMIM:263520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NEDD4L Achchuthan Shanmugasundram reviewed gene: NEDD4L: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27694961, 23934111, 28515470; Phenotypes: Periventricular nodular heterotopia with ID, cleft palate and 2.3 toe syndactyly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NECTIN4 Achchuthan Shanmugasundram reviewed gene: NECTIN4: Rating: GREEN; Mode of pathogenicity: ; Publications: 20691405, 21346770, 1646587; Phenotypes: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1, OMIM:613573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NECTIN1 Achchuthan Shanmugasundram reviewed gene: NECTIN1: Rating: RED; Mode of pathogenicity: ; Publications: 10932188; Phenotypes: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME, OMIM:225060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NEB Achchuthan Shanmugasundram reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: ; Publications: 27105866, 10051637, 27933661; Phenotypes: AUTOSOMAL RECESSIVE TYPICAL NEMALINE MYOPATHY, OMIM:256030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDUFV2 Achchuthan Shanmugasundram reviewed gene: NDUFV2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26008862, 33811136; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDUFV1 Achchuthan Shanmugasundram reviewed gene: NDUFV1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDUFS8 Achchuthan Shanmugasundram reviewed gene: NDUFS8: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDUFS7 Achchuthan Shanmugasundram reviewed gene: NDUFS7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDUFS4 Achchuthan Shanmugasundram reviewed gene: NDUFS4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LEIGH SYNDROME, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDUFS1 Achchuthan Shanmugasundram reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY, OMIM:252010, LEIGH SYNDROME, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDUFB8 Achchuthan Shanmugasundram reviewed gene: NDUFB8: Rating: GREEN; Mode of pathogenicity: ; Publications: 29429571; Phenotypes: MITOCHONDRIAL COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDUFB7 Achchuthan Shanmugasundram reviewed gene: NDUFB7: Rating: RED; Mode of pathogenicity: ; Publications: 33502047; Phenotypes: NDUFB7-associated lactic acidosis and hypertrophic cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDUFB3 Achchuthan Shanmugasundram reviewed gene: NDUFB3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27091925, 22499348, 22277967; Phenotypes: NDUFB3-associated mitochondrial complex I deficiency, OMIM:618246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDUFB11 Achchuthan Shanmugasundram reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: ; Publications: 25772934; Phenotypes: MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME, OMIM:309801; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 NDUFAF8 Achchuthan Shanmugasundram reviewed gene: NDUFAF8: Rating: GREEN; Mode of pathogenicity: ; Publications: 31866046; Phenotypes: NDUFAF8-related Leigh Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDUFAF2 Achchuthan Shanmugasundram reviewed gene: NDUFAF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LEIGH SYNDROME, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDUFA9 Achchuthan Shanmugasundram reviewed gene: NDUFA9: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: LEIGH SYNDROME, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDUFA8 Achchuthan Shanmugasundram reviewed gene: NDUFA8: Rating: GREEN; Mode of pathogenicity: ; Publications: 32385911; Phenotypes: NDUFA8-related developmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDUFA6 Achchuthan Shanmugasundram reviewed gene: NDUFA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 30245030; Phenotypes: Early Onset Isolated Mitochondrial Complex I Deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDUFA12 Achchuthan Shanmugasundram reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: ; Publications: 33715266, 21617257; Phenotypes: NDUFA12-associated mtochondrial complex I deficiency, OMIM:618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDUFA10 Achchuthan Shanmugasundram reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: LEIGH SYNDROME DUP, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDUFA1 Achchuthan Shanmugasundram reviewed gene: NDUFA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 NDST1 Achchuthan Shanmugasundram reviewed gene: NDST1: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NDP Achchuthan Shanmugasundram reviewed gene: NDP: Rating: GREEN; Mode of pathogenicity: ; Publications: 7627181, 1307245, 8790105, 7814011, 24801666, 9382152, 17334993, 8069314, 8268931, 16163268, 17296899, 9143918, 1303264, 8240113, 8990009; Phenotypes: NORRIE DISEASE, OMIM:310600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 NDNF Achchuthan Shanmugasundram reviewed gene: NDNF: Rating: GREEN; Mode of pathogenicity: ; Publications: 31883645; Phenotypes: NDNF-related Congenital Hypogonadotrophic Hypogonadism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NDE1 Achchuthan Shanmugasundram reviewed gene: NDE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21529752, 21529751; Phenotypes: LISSENCEPHALY 4, OMIM:614019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NCOR1 Achchuthan Shanmugasundram reviewed gene: NCOR1: Rating: RED; Mode of pathogenicity: ; Publications: 30289594, 27824329; Phenotypes: NCOR1-related developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NCKAP1 Achchuthan Shanmugasundram reviewed gene: NCKAP1: Rating: RED; Mode of pathogenicity: ; Publications: 33157009; Phenotypes: NCKAP1-related Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NCDN Achchuthan Shanmugasundram reviewed gene: NCDN: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33711248; Phenotypes: NCDN-associated neurodevelopmental disorder with seizures (monoallelic), NCDN-associated neurodevelopmental disorder with seizures (biallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NCAPH Achchuthan Shanmugasundram reviewed gene: NCAPH: Rating: RED; Mode of pathogenicity: ; Publications: 27737959; Phenotypes: microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NCAPG2 Achchuthan Shanmugasundram reviewed gene: NCAPG2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30609410; Phenotypes: Severe Neurodevelopmental Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NCAPD3 Achchuthan Shanmugasundram reviewed gene: NCAPD3: Rating: RED; Mode of pathogenicity: ; Publications: 27737959; Phenotypes: Microcephaly with short stature; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NCAPD2 Achchuthan Shanmugasundram reviewed gene: NCAPD2: Rating: RED; Mode of pathogenicity: ; Publications: 27737959; Phenotypes: Microcephaly with short stature; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NBN Achchuthan Shanmugasundram reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: ; Publications: 9590180, 3802554; Phenotypes: NIJMEGEN BREAKAGE SYNDROME, OMIM:251260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NBEA Achchuthan Shanmugasundram reviewed gene: NBEA: Rating: GREEN; Mode of pathogenicity: ; Publications: 30269351; Phenotypes: NBEA Neurodevelopment disorder with seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NBAS Achchuthan Shanmugasundram reviewed gene: NBAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 26073778; Phenotypes: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY, OMIM:616483, ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NAXE Achchuthan Shanmugasundram reviewed gene: NAXE: Rating: GREEN; Mode of pathogenicity: ; Publications: 27616477; Phenotypes: Lethal Neurometabolic Disorder of Early Childhood; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NAXD Achchuthan Shanmugasundram reviewed gene: NAXD: Rating: GREEN; Mode of pathogenicity: ; Publications: 30576410; Phenotypes: Neurodegenerative disorder exacerbated by febrile illnesses; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NARS2 Achchuthan Shanmugasundram reviewed gene: NARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32020600, 25807530, 28716262, 28077841, 25385316, 30327238, 35703918, 34415467, 25629079; Phenotypes: NARS2-associated oxidative phosphorylation deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NARS Achchuthan Shanmugasundram reviewed gene: NARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 32738225, 32788587; Phenotypes: NARS1 Neurodevelopmental Disorder (monoallelic), NARS1 Neurodevelopmental Disorder (biallelic); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 NAPB Achchuthan Shanmugasundram reviewed gene: NAPB: Rating: GREEN; Mode of pathogenicity: ; Publications: 28097321, 26235277, 33189936; Phenotypes: NAPB-related Neurodevelopmental Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NANS Achchuthan Shanmugasundram reviewed gene: NANS: Rating: GREEN; Mode of pathogenicity: ; Publications: 27213289; Phenotypes: infantile-onset severe developmental delay and skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NALCN Achchuthan Shanmugasundram reviewed gene: NALCN: Rating: GREEN; Mode of pathogenicity: ; Publications: 25683120, 24075186, 23749988; Phenotypes: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES, OMIM:615419, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, OMIM:616266; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 NAGS Achchuthan Shanmugasundram reviewed gene: NAGS: Rating: GREEN; Mode of pathogenicity: ; Publications: 12594532, 12754705; Phenotypes: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, OMIM:237310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NAGLU Achchuthan Shanmugasundram reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: ; Publications: 11068184, 21937992, 12202988, 10094189, 8650226, 9832037; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 3B, OMIM:252920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NAGA Achchuthan Shanmugasundram reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: ; Publications: 2564952, 2243144, 8071745, 11251574, 8782044; Phenotypes: KANZAKI DISEASE, OMIM:609242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NAE1 Achchuthan Shanmugasundram reviewed gene: NAE1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36608681; Phenotypes: NAE1-associated neurodevelopmental disorder with intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NADSYN1 Achchuthan Shanmugasundram reviewed gene: NADSYN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31883644, 35491967; Phenotypes: NADSYN1-related Congenital NAD Deficiency Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NADK2 Achchuthan Shanmugasundram reviewed gene: NADK2: Rating: RED; Mode of pathogenicity: ; Publications: 24847004; Phenotypes: Dienoyl-CoA reductase deficiency with hyperlysinemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NACC1 Achchuthan Shanmugasundram reviewed gene: NACC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28132692; Phenotypes: Infantile Epilepsy, Cataracts, and Profound Developmental Delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NAA20 Achchuthan Shanmugasundram reviewed gene: NAA20: Rating: RED; Mode of pathogenicity: Other; Publications: 34230638; Phenotypes: NAA20-associated developmental delay and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 NAA15 Achchuthan Shanmugasundram reviewed gene: NAA15: Rating: GREEN; Mode of pathogenicity: ; Publications: 23665959, 29656860, 28191889; Phenotypes: CONGENITAL HEART DISEASE and NEURODEVELOPMENTAL DISORDER; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 NAA10 Achchuthan Shanmugasundram reviewed gene: NAA10: Rating: GREEN; Mode of pathogenicity: ; Publications: 24431331, 30842225, 21700266, 25099252; Phenotypes: X-linked anophthalmia syndrome, OGDEN SYNDROME, OMIM:300855, NONPECIFIC SEVERE ID; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 MYT1L Achchuthan Shanmugasundram reviewed gene: MYT1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 28859103; Phenotypes: MYT1L syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MYT1 Achchuthan Shanmugasundram reviewed gene: MYT1: Rating: RED; Mode of pathogenicity: ; Publications: 27358179; Phenotypes: OAVS/Goldenhar syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MYSM1 Achchuthan Shanmugasundram reviewed gene: MYSM1: Rating: RED; Mode of pathogenicity: ; Publications: 26220525, 32640305, 28115216, 33618624, 24288411; Phenotypes: MYSM1-related congenital bone marrow failure, OMIM:618116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MYRF Achchuthan Shanmugasundram reviewed gene: MYRF: Rating: GREEN; Mode of pathogenicity: ; Publications: 31069960, 29446546, 30532227, 30070761; Phenotypes: Pulmonary artery and lung hypoplasia, agonadism, omphalocele, diaphragmatic defects, hypoplastic left heart and scimitar syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MYPN Achchuthan Shanmugasundram reviewed gene: MYPN: Rating: GREEN; Mode of pathogenicity: ; Publications: 28017374; Phenotypes: Childhood-Onset, Slowly Progressive Nemaline Myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MYOCD Achchuthan Shanmugasundram reviewed gene: MYOCD: Rating: GREEN; Mode of pathogenicity: ; Publications: 31513549; Phenotypes: Congenital megabladder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MYOC Achchuthan Shanmugasundram reviewed gene: MYOC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: PRIMARY CONGENITAL GLAUCOMA TYPE 3A, OMIM:231300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MYO7A Achchuthan Shanmugasundram reviewed gene: MYO7A: Rating: GREEN; Mode of pathogenicity: ; Publications: 7870171, 9171833; Phenotypes: DEAFNESS AUTOSOMAL RECESSIVE TYPE 2, OMIM:600060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MYO5B Achchuthan Shanmugasundram reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: ; Publications: 19006234, 18724368; Phenotypes: MICROVILLUS INCLUSION DISEASE, OMIM:251850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MYO5A Achchuthan Shanmugasundram reviewed gene: MYO5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 22711375, 9207796, 12148598; Phenotypes: GRISCELLI SYNDROME TYPE 3, OMIM:609227; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MYO18B Achchuthan Shanmugasundram reviewed gene: MYO18B: Rating: GREEN; Mode of pathogenicity: ; Publications: 25748484, 31195167, 27858739, 32184166, 32637634; Phenotypes: KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM, OMIM:616549; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MYLPF Achchuthan Shanmugasundram reviewed gene: MYLPF: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32707087; Phenotypes: MYLPF arthrogryposis (monoallelic), MYLPF arthrogryposis (biallelic); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MYLK Achchuthan Shanmugasundram reviewed gene: MYLK: Rating: GREEN; Mode of pathogenicity: ; Publications: 28602422; Phenotypes: Megacystis Microcolon Intestinal Hypoperistalsis Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MYL1 Achchuthan Shanmugasundram reviewed gene: MYL1: Rating: RED; Mode of pathogenicity: ; Publications: 30215711; Phenotypes: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY, OMIM:618414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MYH9 Achchuthan Shanmugasundram reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: Other; Publications: 10973259, 25077172; Phenotypes: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS, OMIM:155100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MYH8 Achchuthan Shanmugasundram reviewed gene: MYH8: Rating: RED; Mode of pathogenicity: ; Publications: 28377322, 15282353; Phenotypes: DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300, CARNEY COMPLEX VARIANT, OMIM:608837; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MYH6 Achchuthan Shanmugasundram reviewed gene: MYH6: Rating: RED; Mode of pathogenicity: ; Publications: 29536580, 15735645, 31638415, 20656787, 29969989, 29505555, 34481090; Phenotypes: ATRIAL SEPTAL DEFECT TYPE 3, OMIM:614089; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MYH3 Achchuthan Shanmugasundram reviewed gene: MYH3: Rating: GREEN; Mode of pathogenicity: ; Publications: 29805041, 18695058, 16642020; Phenotypes: DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700, Recessive Spondylocarpotarsal Synostosis Syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 MYH11 Achchuthan Shanmugasundram reviewed gene: MYH11: Rating: RED; Mode of pathogenicity: ; Publications: 25407000, 29575632; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MYH10 Achchuthan Shanmugasundram reviewed gene: MYH10: Rating: RED; Mode of pathogenicity: ; Publications: 25003005, 25356899; Phenotypes: MYH10-related Multiple congenital anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MYF5 Achchuthan Shanmugasundram reviewed gene: MYF5: Rating: GREEN; Mode of pathogenicity: ; Publications: 29887215; Phenotypes: External Ophthalmoplegia, Rib, and Vertebral Anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MYCN Achchuthan Shanmugasundram reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: ; Publications: 15821734, 16906565, 18671284, 18470948; Phenotypes: FEINGOLD SYNDROME TYPE 1, OMIM:164280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MYCBP2 Achchuthan Shanmugasundram reviewed gene: MYCBP2: Rating: RED; Mode of pathogenicity: ; Publications: 36200388; Phenotypes: MYCBP2-related developmental delay with corpus callosum defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MYBPC1 Achchuthan Shanmugasundram reviewed gene: MYBPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31264822, 31966463, 22610851, 26661508, 25679999, 20045868; Phenotypes: LETHAL CONGENITAL CONTRACTURE SYNDROME 4, OMIM:614915, MYBPC1-related arthrogryposis and myopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 MUT Achchuthan Shanmugasundram reviewed gene: MUT: Rating: GREEN; Mode of pathogenicity: ; Publications: 1670635, 11528502, 1977311, 7909321, 7951229, 2881300, 16451139, 16281286, 1968706, 17966092; Phenotypes: METHYLMALONIC ACIDURIA TYPE MUT, OMIM:251000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MTSS1L Achchuthan Shanmugasundram reviewed gene: MTSS1L: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36067766; Phenotypes: MTSS2-associated syndromic intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MTRR Achchuthan Shanmugasundram reviewed gene: MTRR: Rating: GREEN; Mode of pathogenicity: ; Publications: 15714522, 9501215, 12555939; Phenotypes: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, OMIM:236270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MTR Achchuthan Shanmugasundram reviewed gene: MTR: Rating: GREEN; Mode of pathogenicity: ; Publications: 8968737, 12068375, 8968736, 9683607; Phenotypes: METHYLCOBALAMIN DEFICIENCY TYPE G, OMIM:250940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MTOR Achchuthan Shanmugasundram reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23934111, 28892148; Phenotypes: Smith-Kingsmore syndrome, OMIM:616638; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MTO1 Achchuthan Shanmugasundram reviewed gene: MTO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22608499; Phenotypes: INFANTILE HYPERTROPHIC CARDIOMYOPATHY AND LACTIC ACIDOSIS, OMIM:614702; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MTM1 Achchuthan Shanmugasundram reviewed gene: MTM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9285787, 8640223, 12707446, 7611280, 9450905, 12859411, 11552027, 10790201; Phenotypes: MYOTUBULAR MYOPATHY, X-LINKED, OMIM:310400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 MTHFR Achchuthan Shanmugasundram reviewed gene: MTHFR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY, OMIM:236250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MTF1 Achchuthan Shanmugasundram reviewed gene: MTF1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MT-TP Achchuthan Shanmugasundram reviewed gene: MT-TP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MERRF, OMIM:545000; Mode of inheritance: MITOCHONDRIAL
DDG2P v3.12 MT-TL1 Achchuthan Shanmugasundram reviewed gene: MT-TL1: Rating: RED; Mode of pathogenicity: Other; Publications: 34075211; Phenotypes: MT-TL1-associated mitochondrial disorder; Mode of inheritance: MITOCHONDRIAL
DDG2P v3.12 MSX2 Achchuthan Shanmugasundram reviewed gene: MSX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 14571277; Phenotypes: ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM, OMIM:168550, CRANIOSYNOSTOSIS, TYPE 2, OMIM:604757; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MSX1 Achchuthan Shanmugasundram reviewed gene: MSX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11369996, 12807959, 15354328; Phenotypes: CLEFT LIP +/- CLEFT PALATE, OMIM:608874; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MSL3 Achchuthan Shanmugasundram reviewed gene: MSL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 30224647; Phenotypes: MSL3 syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.12 MSL2 Achchuthan Shanmugasundram reviewed gene: MSL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33057194, 31332282; Phenotypes: MSL2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MSI1 Achchuthan Shanmugasundram reviewed gene: MSI1: Rating: RED; Mode of pathogenicity: Other; Publications: 28572454; Phenotypes: MSI1-associated Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MRPS34 Achchuthan Shanmugasundram reviewed gene: MRPS34: Rating: GREEN; Mode of pathogenicity: ; Publications: 28777931; Phenotypes: Leigh Syndrome with Instability of the Small Mitoribosomal Subunit; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MRPS22 Achchuthan Shanmugasundram reviewed gene: MRPS22: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17873122; Phenotypes: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, OMIM:611719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MRPS2 Achchuthan Shanmugasundram reviewed gene: MRPS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29576219; Phenotypes: Sensorineural Hearing Loss Hypoglycemia and Multiple OXPHOS Complex Deficiencies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MRE11 Achchuthan Shanmugasundram reviewed gene: MRE11: Rating: GREEN; Mode of pathogenicity: ; Publications: 11371508, 24332946, 15269180, 10612394; Phenotypes: ATAXIA TELANGIECTASIA-LIKE DISORDER, OMIM:604391; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MRAS Achchuthan Shanmugasundram reviewed gene: MRAS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28289718, 31173466, 31108500; Phenotypes: NOONAN SYNDROME 11, OMIM:618499; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MPZ Achchuthan Shanmugasundram reviewed gene: MPZ: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15184631, 8816708, 12953275, 26310628; Phenotypes: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2, OMIM:618184; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MPV17 Achchuthan Shanmugasundram reviewed gene: MPV17: Rating: GREEN; Mode of pathogenicity: ; Publications: 16582910, 18695062; Phenotypes: MITOCHONDRIAL DNA DEPLETION SYNDROME 6, OMIM:256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MPLKIP Achchuthan Shanmugasundram reviewed gene: MPLKIP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: TRICHOTHIODYSTROPHY NON-PHOTOSENSITIVE TYPE 1, OMIM:234050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MPI Achchuthan Shanmugasundram reviewed gene: MPI: Rating: GREEN; Mode of pathogenicity: ; Publications: 9525984, 9585601, 3080572; Phenotypes: CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MPDZ Achchuthan Shanmugasundram reviewed gene: MPDZ: Rating: RED; Mode of pathogenicity: ; Publications: 23240096; Phenotypes: HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, OMIM:615219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MPDU1 Achchuthan Shanmugasundram reviewed gene: MPDU1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11733556, 11733564; Phenotypes: CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MPC2 Achchuthan Shanmugasundram reviewed gene: MPC2: Rating: RED; Mode of pathogenicity: Other; Publications: 36417180; Phenotypes: MPC2-related metabolic disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MORC2 Achchuthan Shanmugasundram reviewed gene: MORC2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32693025, 30624633, 28771897, 26497905; Phenotypes: MORC2 - axonal neuropathy and neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MOGS Achchuthan Shanmugasundram reviewed gene: MOGS: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MOCS2 Achchuthan Shanmugasundram reviewed gene: MOCS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MOLYBDENUM COFACTOR DEFICIENCY, OMIM:603707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MOCS1 Achchuthan Shanmugasundram reviewed gene: MOCS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MOLYBDENUM COFACTOR DEFICIENCY, OMIM:603707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MNX1 Achchuthan Shanmugasundram reviewed gene: MNX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15216552, 16906559, 10631160, 7550324, 9843207; Phenotypes: CURRARINO SYNDROME, OMIM:176450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MN1 Achchuthan Shanmugasundram reviewed gene: MN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31839203, 31834374; Phenotypes: MN1 C-terminal truncation syndrome , OMIM:618774; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MMP21 Achchuthan Shanmugasundram reviewed gene: MMP21: Rating: GREEN; Mode of pathogenicity: ; Publications: 26437028, 26437029, 26429889; Phenotypes: MMP21-associated heterotaxy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MMP15 Achchuthan Shanmugasundram reviewed gene: MMP15: Rating: RED; Mode of pathogenicity: ; Publications: 34988996, 33875846; Phenotypes: MMP15-related developmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MMP14 Achchuthan Shanmugasundram reviewed gene: MMP14: Rating: RED; Mode of pathogenicity: Other; Publications: 22922033; Phenotypes: WINCHESTER SYNDROME, OMIM:277950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MMP13 Achchuthan Shanmugasundram reviewed gene: MMP13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19615667, 8412645; Phenotypes: SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE, OMIM:602111, METAPHYSEAL ANADYSPLASIA TYPE 1, OMIM:602111; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 MMGT1 Achchuthan Shanmugasundram reviewed gene: MMGT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: MMGT1-related developmental disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 MMADHC Achchuthan Shanmugasundram reviewed gene: MMADHC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD, OMIM:277410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MMACHC Achchuthan Shanmugasundram reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: ; Publications: 20631720, 16311595, 16714133, 25687216, 11320193; Phenotypes: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, OMIM:277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MMAB Achchuthan Shanmugasundram reviewed gene: MMAB: Rating: GREEN; Mode of pathogenicity: ; Publications: 12471062; Phenotypes: METHYLMALONIC ACIDURIA TYPE CBLB, OMIM:251110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MMAA Achchuthan Shanmugasundram reviewed gene: MMAA: Rating: GREEN; Mode of pathogenicity: ; Publications: 12438653; Phenotypes: METHYLMALONIC ACIDURIA TYPE CBLA, OMIM:251100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MLYCD Achchuthan Shanmugasundram reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MALONYL-COA DECARBOXYLASE DEFICIENCY, OMIM:248360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MLC1 Achchuthan Shanmugasundram reviewed gene: MLC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11935341, 11254442, 12189496, 21624973, 14615938; Phenotypes: LEUKOENCEPHALOPATHY MEGALENCEPHALIC WITH SUBCORTICAL CYSTS, OMIM:604004; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MKS1 Achchuthan Shanmugasundram reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17377820, 16415886; Phenotypes: BARDET-BIEDL SYNDROME TYPE 13, OMIM:615990; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MKKS Achchuthan Shanmugasundram reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: ; Publications: 10802661; Phenotypes: MCKUSICK-KAUFMAN SYNDROME, OMIM:236700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MITF Achchuthan Shanmugasundram reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: ; Publications: 8490648, 9158138, 10851256, 7874167, 9856573, 8589691, 27889061; Phenotypes: TIETZ SYNDROME, OMIM:103500, WAARDENBURG SYNDROME TYPE 2A, OMIM:193510, Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 MIR184 Achchuthan Shanmugasundram reviewed gene: MIR184: Rating: RED; Mode of pathogenicity: Other; Publications: 24138095, 23833072, 27195078, 25373792, 21996275; Phenotypes: EDICT SYNDROME, OMIM:614303, KERATOCONUS WITH CATARACT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MIR17HG Achchuthan Shanmugasundram reviewed gene: MIR17HG: Rating: GREEN; Mode of pathogenicity: ; Publications: 21892160; Phenotypes: FEINGOLD SYNDROME, OMIM:614326; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MID1 Achchuthan Shanmugasundram reviewed gene: MID1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17221865, 12545276, 15558842; Phenotypes: OPITZ G/BBB SYNDROME, X-LINKED, OMIM:300000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 MICU1 Achchuthan Shanmugasundram reviewed gene: MICU1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24336167; Phenotypes: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS, OMIM:615673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MIB1 Achchuthan Shanmugasundram reviewed gene: MIB1: Rating: RED; Mode of pathogenicity: ; Publications: 33057194, 30322850; Phenotypes: MIB1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MGP Achchuthan Shanmugasundram reviewed gene: MGP: Rating: GREEN; Mode of pathogenicity: ; Publications: 9916809, 15810001; Phenotypes: KEUTEL SYNDROME, OMIM:245150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MGAT2 Achchuthan Shanmugasundram reviewed gene: MGAT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 8808595, 11228641, 20684000; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A, OMIM:212066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MFSD8 Achchuthan Shanmugasundram reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MFSD8-RELATED NEURONAL CEROID-LIPOFUSCINOSIS, OMIM:610951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MFSD2A Achchuthan Shanmugasundram reviewed gene: MFSD2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26005865; Phenotypes: MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE, OMIM:616486; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MFRP Achchuthan Shanmugasundram reviewed gene: MFRP: Rating: GREEN; Mode of pathogenicity: ; Publications: 15976030, 17167404, 1258954; Phenotypes: MICROPHTHALMIA ISOLATED TYPE 5, OMIM:611040; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MFN2 Achchuthan Shanmugasundram reviewed gene: MFN2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: MFN2-related developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MFF Achchuthan Shanmugasundram reviewed gene: MFF: Rating: GREEN; Mode of pathogenicity: ; Publications: 26783368, 30581454, 22499341, 32181496; Phenotypes: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2, OMIM:617086; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 METTL5 Achchuthan Shanmugasundram reviewed gene: METTL5: Rating: GREEN; Mode of pathogenicity: ; Publications: 31564433; Phenotypes: Autosomal-Recessive Intellectual Disability and Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 METTL23 Achchuthan Shanmugasundram reviewed gene: METTL23: Rating: GREEN; Mode of pathogenicity: ; Publications: 32067349, 24626631, 24501276; Phenotypes: METTL23-related Intellectual Disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MESP2 Achchuthan Shanmugasundram reviewed gene: MESP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15122512, 18485326; Phenotypes: SPONDYLOCOSTAL DYSOSTOSIS TYPE 2, OMIM:608681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MESD Achchuthan Shanmugasundram reviewed gene: MESD: Rating: GREEN; Mode of pathogenicity: ; Publications: 31564437; Phenotypes: OSTEOGENESIS IMPERFECTA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MEOX1 Achchuthan Shanmugasundram reviewed gene: MEOX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: KLIPPEL-FEIL ANOMALY, OMIM:118100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal