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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 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 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 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 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 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 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 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 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 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 v6.16 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 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 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 SLC25A13 Achchuthan Shanmugasundram gene: SLC25A13 was added
gene: SLC25A13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A13 were set to 29152073; 37063661; 40992288; 36599957
Phenotypes for gene: SLC25A13 were set to SLC25A13-related citrullinemia; OMIM:605814.0; MONDO:0011601
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 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 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 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 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 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 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 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 v6.8 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 v6.5 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 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 v6.1 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 v5.48 TNFRSF13B Ronnie Wright reviewed gene: TNFRSF13B: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: Other
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 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 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 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 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 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 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 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 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 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 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 v5.2 GNAI1 Achchuthan Shanmugasundram Mode of pathogenicity for gene GNAI1 was changed from to Other
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 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 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 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 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 v4.15 XYLT1 Sarah Leigh reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 v4.4 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 v3.72 DMPK_CTG Achchuthan Shanmugasundram reviewed STR: DMPK_CTG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
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 v3.12 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
DDG2P v3.12 MEIS2 Achchuthan Shanmugasundram reviewed gene: MEIS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MEIS2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MEGF8 Achchuthan Shanmugasundram reviewed gene: MEGF8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CARPENTER SYNDROME, OMIM:201000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MEGF10 Achchuthan Shanmugasundram reviewed gene: MEGF10: Rating: GREEN; Mode of pathogenicity: ; Publications: 17236770, 22101682, 22371254; Phenotypes: MYOPATHY, EARLY-ONSET, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, OMIM:614399; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MEF2C Achchuthan Shanmugasundram reviewed gene: MEF2C: Rating: GREEN; Mode of pathogenicity: ; Publications: 19592390, 34022131, 35719119, 20513142, 23001426; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS, OMIM:613443; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MED27 Achchuthan Shanmugasundram reviewed gene: MED27: Rating: GREEN; Mode of pathogenicity: ; Publications: 33443317; Phenotypes: MED27-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MED25 Achchuthan Shanmugasundram reviewed gene: MED25: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31602195, 25792360, 25527630, 32324310; Phenotypes: Basel-Vanagaite-Smirin-Yosef Syndrome, OMIM:616449; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MED23 Achchuthan Shanmugasundram reviewed gene: MED23: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 18, OMIM:614249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MED17 Achchuthan Shanmugasundram reviewed gene: MED17: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20950787; Phenotypes: MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, OMIM:613668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MED13L Achchuthan Shanmugasundram reviewed gene: MED13L: Rating: GREEN; Mode of pathogenicity: ; Publications: 25712080, 29511999, 29959045, 25758992, 25137640, 24781760, 28371282, 28645799, 29159987, 23403903; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MED13 Achchuthan Shanmugasundram reviewed gene: MED13: Rating: GREEN; Mode of pathogenicity: ; Publications: 29740699; Phenotypes: MED13 - Neurodevelopment disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MED12 Achchuthan Shanmugasundram reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: ; Publications: 33244166, 31536828, 6711603, 17369503, 24123922, 17334363, 24715367, 28544239, 27980443, 27312080, 33244165, 30006928, 27286923, 27500536, 35385210; Phenotypes: LUJAN-FRYNS SYNDROME, OMIM:309520, OPITZ-KAVEGGIA SYNDROME, OMIM:305450, MED12-related developmental 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 MED11 Achchuthan Shanmugasundram reviewed gene: MED11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36001086; Phenotypes: MED11-associated neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MECR Achchuthan Shanmugasundram reviewed gene: MECR: Rating: GREEN; Mode of pathogenicity: ; Publications: 27817865; Phenotypes: Childhood-Onset Dystonia and Optic Atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MECP2 Achchuthan Shanmugasundram reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15689435, 10232754, 11313756, 11402105, 19034540, 11007980, 9377804, 10814718, 15034579, 10854091, 29618507, 11238684, 16966553, 12481990, 10508514, 10767337, 11022934, 16630165, 12615169, 15857422, 18989701, 10577905, 11930274, 11807877, 11214906; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED LUBS TYPE, OMIM:300260, CHROMOSOME XQ28 DUPLICATION SYNDROME, OMIM:300815, RETT SYNDROME (RTT), OMIM:312750, ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS, OMIM:300673; 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 MECOM Achchuthan Shanmugasundram reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26581901; Phenotypes: Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MDH2 Achchuthan Shanmugasundram reviewed gene: MDH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27989324; Phenotypes: Early-Onset Severe Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MCPH1 Achchuthan Shanmugasundram reviewed gene: MCPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20978018, 7693575, 16311745, 12046007, 11857108; Phenotypes: MICROCEPHALY PRIMARY TYPE 1, OMIM:251200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MCOLN1 Achchuthan Shanmugasundram reviewed gene: MCOLN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11030752, 10441585, 10973263, 15523648, 17239335; Phenotypes: MUCOLIPIDOSIS IV, OMIM:252650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MCEE Achchuthan Shanmugasundram reviewed gene: MCEE: Rating: GREEN; Mode of pathogenicity: ; Publications: 16752391; Phenotypes: METHYLMALONYL-COA EPIMERASE DEFICIENCY, OMIM:251120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MCCC2 Achchuthan Shanmugasundram reviewed gene: MCCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, OMIM:210210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MCCC1 Achchuthan Shanmugasundram reviewed gene: MCCC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY, OMIM:210200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MC2R Achchuthan Shanmugasundram reviewed gene: MC2R: Rating: GREEN; Mode of pathogenicity: ; Publications: 18407210, 18492762, 8636348, 8094489, 8227361, 12213892; Phenotypes: GLUCOCORTICOID DEFICIENCY 1, OMIM:202200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MBOAT7 Achchuthan Shanmugasundram reviewed gene: MBOAT7: Rating: GREEN; Mode of pathogenicity: ; Publications: 27616480; Phenotypes: Intellectual Disability Accompanied by Epilepsy and Autistic Features; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MBD5 Achchuthan Shanmugasundram reviewed gene: MBD5: Rating: GREEN; Mode of pathogenicity: ; Publications: 23422940; Phenotypes: EHMT1-LIKE INTELLECTUAL DISABILITY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MAU2 Achchuthan Shanmugasundram reviewed gene: MAU2: Rating: RED; Mode of pathogenicity: ; Publications: 32433956; Phenotypes: MAU2 neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MATN3 Achchuthan Shanmugasundram reviewed gene: MATN3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 14729835, 13849708, 11479597, 15948199; Phenotypes: MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5, OMIM:607078; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MAT1A Achchuthan Shanmugasundram reviewed gene: MAT1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 7560086, 4421454, 3812486, 8770875, 1527987, 7229751, 1683972, 10677294; Phenotypes: METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, OMIM:250850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MAST1 Achchuthan Shanmugasundram reviewed gene: MAST1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MAST1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MASP1 Achchuthan Shanmugasundram reviewed gene: MASP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21258343, 21035106, 17937425; Phenotypes: 3MC SYNDROME 1, OMIM:257920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MAPRE2 Achchuthan Shanmugasundram reviewed gene: MAPRE2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26637975; Phenotypes: Circumferential Skin Creases Kunze Type, OMIM:156610; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MAPKAPK5 Achchuthan Shanmugasundram reviewed gene: MAPKAPK5: Rating: GREEN; Mode of pathogenicity: ; Publications: 35575217, 33442026; Phenotypes: MAPKAPK5-associated syndrome with synpolydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MAPK8IP3 Achchuthan Shanmugasundram reviewed gene: MAPK8IP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 30612693; Phenotypes: Intellectual Disability with Variable Brain Anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MAPK10 Achchuthan Shanmugasundram reviewed gene: MAPK10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, OMIM:606369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MAPK1 Achchuthan Shanmugasundram reviewed gene: MAPK1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32721402; Phenotypes: MAPK1-related Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MAP3K7 Achchuthan Shanmugasundram reviewed gene: MAP3K7: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27426733, 27426734; Phenotypes: FRONTOMETAPHYSEAL DYSPLASIA, OMIM:617137; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MAP3K1 Achchuthan Shanmugasundram reviewed gene: MAP3K1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21129722, 5419329, 12476449; Phenotypes: 46XY SEX REVERSAL 6, OMIM:613762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MAP2K2 Achchuthan Shanmugasundram reviewed gene: MAP2K2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CARDIOFACIOCUTANEOUS SYNDROME, OMIM:115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MAP2K1 Achchuthan Shanmugasundram reviewed gene: MAP2K1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CARDIOFACIOCUTANEOUS SYNDROME, OMIM:115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MAOA Achchuthan Shanmugasundram reviewed gene: MAOA: Rating: GREEN; Mode of pathogenicity: ; Publications: 24169519; Phenotypes: BRUNNER SYNDROME, OMIM:300615; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 MANBA Achchuthan Shanmugasundram reviewed gene: MANBA: Rating: GREEN; Mode of pathogenicity: ; Publications: 1499588, 16401745, 3762648, 2079835, 12890191, 1623631; Phenotypes: LYSOSOMAL BETA-MANNOSIDOSIS, OMIM:248510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MAN2C1 Achchuthan Shanmugasundram reviewed gene: MAN2C1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35045343; Phenotypes: MAN2C1-associated neurodevelopmental disorder with cerebral malformations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MAN2B1 Achchuthan Shanmugasundram reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9758606, 9158146, 4358183, 22161967; Phenotypes: LYSOSOMAL ALPHA-MANNOSIDOSIS, OMIM:248500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MAN2A2 Achchuthan Shanmugasundram reviewed gene: MAN2A2: Rating: RED; Mode of pathogenicity: Other; Publications: 36357165; Phenotypes: MAN2A2-related disorder of glycosylation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MAN1B1 Achchuthan Shanmugasundram reviewed gene: MAN1B1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21937992, 26279649, 24566669, 26577042, 21763484, 24348268; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MAMLD1 Achchuthan Shanmugasundram reviewed gene: MAMLD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17086185; Phenotypes: X-LINKED HYPOSPADIAS TYPE 2, OMIM:300758; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 MAGT1 Achchuthan Shanmugasundram reviewed gene: MAGT1: Rating: RED; Mode of pathogenicity: ; Publications: 18455129; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 95, OMIM:300716; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 MAGI2 Achchuthan Shanmugasundram reviewed gene: MAGI2: Rating: RED; Mode of pathogenicity: ; Publications: 18565486; Phenotypes: EARLY ONSET EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MAGEL2 Achchuthan Shanmugasundram reviewed gene: MAGEL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27195816, 26365340, 24076603; Phenotypes: Schaaf-Yang syndrome, OMIM:615547; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
DDG2P v3.12 MAFB Achchuthan Shanmugasundram reviewed gene: MAFB: Rating: GREEN; Mode of pathogenicity: ; Publications: 27181683, 22387013; Phenotypes: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OMIM:166300, Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MAF Achchuthan Shanmugasundram reviewed gene: MAF: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11772997, 24664492, 16470690; Phenotypes: CATARACT 21, MULTIPLE TYPES, OMIM:610202; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MADD Achchuthan Shanmugasundram reviewed gene: MADD: Rating: GREEN; Mode of pathogenicity: ; Publications: 32761064; Phenotypes: MADD-related developmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 MACF1 Achchuthan Shanmugasundram reviewed gene: MACF1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30471716; Phenotypes: Defects in Neuronal Migration and Axon Guidance; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 MAB21L2 Achchuthan Shanmugasundram reviewed gene: MAB21L2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25719200, 24906020, 26116559; Phenotypes: MICROPHTHALMIA, SYNDROMIC 14, OMIM:615877; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 MAB21L1 Achchuthan Shanmugasundram reviewed gene: MAB21L1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30487245, 27103078; Phenotypes: Cerebello-Oculo-Facio-Genital syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LZTR1 Achchuthan Shanmugasundram reviewed gene: LZTR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29959388, 31825158, 25795793, 30859559, 30664951, 30368668, 31533111; Phenotypes: NOONAN SYNDROME 10, OMIM:616564, Noonan syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 LYST Achchuthan Shanmugasundram reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: 9215680, 11857544, 8896560, 8751863, 10482950, 9215679, 8751864; Phenotypes: CHEDIAK-HIGASHI SYNDROME, OMIM:214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LTBP3 Achchuthan Shanmugasundram reviewed gene: LTBP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 25669657; Phenotypes: PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA, OMIM:601216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LTBP2 Achchuthan Shanmugasundram reviewed gene: LTBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 20617341, 19361779, 22025892, 19656777, 20179738; Phenotypes: MICROSPHEROPHAKIA, OMIM:251750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LTBP1 Achchuthan Shanmugasundram reviewed gene: LTBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33991472; Phenotypes: LTBP1-related cutis laxa and craniosynostosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LRRC6 Achchuthan Shanmugasundram reviewed gene: LRRC6: Rating: GREEN; Mode of pathogenicity: ; Publications: 23122589; Phenotypes: PRIMARY CILIARY DYSKINESIA, OMIM:614935; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LRRC56 Achchuthan Shanmugasundram reviewed gene: LRRC56: Rating: GREEN; Mode of pathogenicity: ; Publications: 30388400; Phenotypes: Mucociliary Clearance and Laterality Defects; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LRPPRC Achchuthan Shanmugasundram reviewed gene: LRPPRC: Rating: GREEN; Mode of pathogenicity: ; Publications: 12529507; Phenotypes: LEIGH SYNDROME, FRENCH-CANADIAN TYPE, OMIM:220111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LRPAP1 Achchuthan Shanmugasundram reviewed gene: LRPAP1: Rating: RED; Mode of pathogenicity: ; Publications: 23830514; Phenotypes: EXTREME MYOPIA, MYOPIA 23, AUTOSOMAL RECESSIVE, OMIM:615431; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LRP6 Achchuthan Shanmugasundram reviewed gene: LRP6: Rating: RED; Mode of pathogenicity: ; Publications: 26963285; Phenotypes: Tooth Agenesis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 LRP5 Achchuthan Shanmugasundram reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: ; Publications: 15981244, 14727154, 11719191, 9056564, 15024691, 20034086, 12579474, 11741193, 9831343; Phenotypes: VITREORETINOPATHY EXUDATIVE TYPE 4, OMIM:601813, ENDOSTEAL HYPEROSTOSIS WORTH TYPE, OMIM:144750, HIGH BONE MASS TRAIT, OMIM:601884, OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1, OMIM:607634, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OMIM:259770; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 LRP4 Achchuthan Shanmugasundram reviewed gene: LRP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 18978656, 9182770, 11260233, 14577675, 10756427, 12868467, 20381006; Phenotypes: CENANI-LENZ SYNDACTYLY SYNDROME, OMIM:212780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LRP2 Achchuthan Shanmugasundram reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17632512, 29388841, 23992033, 23033978, 19577669; Phenotypes: DONNAI-BARROW SYNDROME, OMIM:222448, INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LRIT3 Achchuthan Shanmugasundram reviewed gene: LRIT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 23246293; Phenotypes: AUTOSOMAL-RECESSIVE COMPLETE CONGENITAL STATIONARY NIGHT BLINDNESS, OMIM:615058; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LRIG2 Achchuthan Shanmugasundram reviewed gene: LRIG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: UROFACIAL SYNDROME, OMIM:236730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LRBA Achchuthan Shanmugasundram reviewed gene: LRBA: Rating: GREEN; Mode of pathogenicity: ; Publications: 22608502; Phenotypes: CHILDHOOD-ONSET HYPOGAMMAGLOBULINEMIA, OMIM:614700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LRAT Achchuthan Shanmugasundram reviewed gene: LRAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LEBER CONGENITAL AMAUROSIS, OMIM:608553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LONP1 Achchuthan Shanmugasundram reviewed gene: LONP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34547244, 25574826; Phenotypes: CODAS SYNDROME, OMIM:600373, LONP1-associated congenital diaphragmatic hernia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LNPK Achchuthan Shanmugasundram reviewed gene: LNPK: Rating: GREEN; Mode of pathogenicity: ; Publications: 35599435, 30032983; Phenotypes: LNPK-associated neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LMX1B Achchuthan Shanmugasundram reviewed gene: LMX1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 10854116, 9837817, 9590287, 9618165, 18414507; Phenotypes: NAIL-PATELLA SYNDROME, OMIM:161200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 LMOD3 Achchuthan Shanmugasundram reviewed gene: LMOD3: Rating: GREEN; Mode of pathogenicity: ; Publications: 31572445, 30642739, 28815944, 30291184, 25250574, 29331079, 32008911; Phenotypes: NEMALINE MYOPATHY 10, OMIM:616165; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LMNB2 Achchuthan Shanmugasundram reviewed gene: LMNB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33033404; Phenotypes: LMNB2-related Primary Microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 LMNB1 Achchuthan Shanmugasundram reviewed gene: LMNB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32910914, 33033404; Phenotypes: LMNB1-associated developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 LMNA Achchuthan Shanmugasundram reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: 10655060, 10587585; Phenotypes: 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; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 LMBRD2 Achchuthan Shanmugasundram reviewed gene: LMBRD2: Rating: RED; Mode of pathogenicity: Other; Publications: 32820033; Phenotypes: LMBRD2-associated intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 LMBRD1 Achchuthan Shanmugasundram reviewed gene: LMBRD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19136951; Phenotypes: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLF, OMIM:277380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LIPT2 Achchuthan Shanmugasundram reviewed gene: LIPT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28757203; Phenotypes: Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LIPT1 Achchuthan Shanmugasundram reviewed gene: LIPT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27247813, 24341803, 24256811; Phenotypes: Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LIPN Achchuthan Shanmugasundram reviewed gene: LIPN: Rating: GREEN; Mode of pathogenicity: ; Publications: 21439540; Phenotypes: ICHTHYOSIS, LAMELLAR, 4, OMIM:613943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LINS1 Achchuthan Shanmugasundram reviewed gene: LINS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LINGO1 Achchuthan Shanmugasundram reviewed gene: LINGO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28837161; Phenotypes: LINGO1 related intellectual disability with microcephaly, speech and motor delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LIG4 Achchuthan Shanmugasundram reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: ; Publications: 16357942, 11779494; Phenotypes: LIG4 SYNDROME, OMIM:606593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LIFR Achchuthan Shanmugasundram reviewed gene: LIFR: Rating: GREEN; Mode of pathogenicity: ; Publications: 27194968, 14740318; Phenotypes: Stuve-Wiedeman syndrome, OMIM:601559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LIAS Achchuthan Shanmugasundram reviewed gene: LIAS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22152680, 26108146; Phenotypes: Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LHX4 Achchuthan Shanmugasundram reviewed gene: LHX4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LHX4-RELATED COMBINED PITUITARY HORMONE DEFICIENCY, OMIM:290135; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 LHX3 Achchuthan Shanmugasundram reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 18407919, 10835633, 17327381; Phenotypes: PITUITARY HORMONE DEFICIENCY COMBINED TYPE 3, OMIM:221750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LGI4 Achchuthan Shanmugasundram reviewed gene: LGI4: Rating: GREEN; Mode of pathogenicity: ; Publications: 28318499; Phenotypes: ARTHROGRYPOSIS MULTIPLEX CONGENITA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LFNG Achchuthan Shanmugasundram reviewed gene: LFNG: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16385447; Phenotypes: SPONDYLOCOSTAL DYSOSTOSIS TYPE 3, OMIM:609813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LETM1 Achchuthan Shanmugasundram reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36055214; Phenotypes: LETM1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LEMD3 Achchuthan Shanmugasundram reviewed gene: LEMD3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19438932, 12749062, 17223882, 15489854, 9295073; Phenotypes: BUSCHKE-OLLENDORFF SYNDROME, OMIM:166700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 LEMD2 Achchuthan Shanmugasundram reviewed gene: LEMD2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30905398; Phenotypes: Nuclear Envelopathy with Early Progeroid Appearance; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 LEFTY2 Achchuthan Shanmugasundram reviewed gene: LEFTY2: Rating: RED; Mode of pathogenicity: ; Publications: 10053005; Phenotypes: HETEROTAXY SYNDROME, OMIM:207574; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 LDB3 Achchuthan Shanmugasundram reviewed gene: LDB3: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: MYOPATHY MYOFIBRILLAR TYPE 4, OMIM:609452; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 LBR Achchuthan Shanmugasundram reviewed gene: LBR: Rating: GREEN; Mode of pathogenicity: ; Publications: 12618959; Phenotypes: HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA, OMIM:215140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LAS1L Achchuthan Shanmugasundram reviewed gene: LAS1L: Rating: RED; Mode of pathogenicity: Other; Publications: 25644381, 34653234; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 LARS2 Achchuthan Shanmugasundram reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23541342; Phenotypes: PERRAULT SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LARP7 Achchuthan Shanmugasundram reviewed gene: LARP7: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 26374271, 26607181; Phenotypes: ALAZAMI SYNDROME, OMIM:615071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LARGE1 Achchuthan Shanmugasundram reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17436019, 19299310, 12966029, 21248746, 19067344; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH INTELLECTUAL DEVELOPMENTAL DISORDER TYPE B6, OMIM:608840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LAMP2 Achchuthan Shanmugasundram reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15907287, 8504498, 12112061, 10972294, 15253947, 15673802, 3087571; Phenotypes: DANON DISEASE, OMIM:300257; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 LAMC3 Achchuthan Shanmugasundram reviewed gene: LAMC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 21572413; Phenotypes: OCCIPITAL CORTICAL MALFORMATIONS, OMIM:614115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LAMB1 Achchuthan Shanmugasundram reviewed gene: LAMB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COBBLESTONE BRAIN MALFORMATION WITHOUT MUSCULAR OR OCULAR ABNORMALITIES, OMIM:615191; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LAMA2 Achchuthan Shanmugasundram reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12601554, 11591858, 18700894, 9158149, 7550355, 11071490, 16216942, 12552556; Phenotypes: CONGENITAL MUSCULAR DYSTROPHY, OMIM:607855; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LAMA1 Achchuthan Shanmugasundram reviewed gene: LAMA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 25105227; Phenotypes: CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY, OMIM:615960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 LAGE3 Achchuthan Shanmugasundram reviewed gene: LAGE3: Rating: RED; Mode of pathogenicity: Other; Publications: 28805828; Phenotypes: GALLOWAY-MOWAT SYNDROME 2, OMIM:301006; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 L2HGDH Achchuthan Shanmugasundram reviewed gene: L2HGDH: Rating: GREEN; Mode of pathogenicity: ; Publications: 15385440, 19911013; Phenotypes: L-2-HYDROXYGLUTARIC ACIDURIA, OMIM:236792; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 L1CAM Achchuthan Shanmugasundram reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 3460961, 15368500, 9643285, 7920660, 9279760, 8401576, 15148591, 1303258, 8929944, 18136715, 11857550, 26916325, 8401593, 7881431, 7920659; Phenotypes: HYDROCEPHALUS DUE TO STENOSIS OF THE AQUEDUCT OF SYLVIUS, OMIM:307000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 KRT74 Achchuthan Shanmugasundram reviewed gene: KRT74: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21188418; Phenotypes: HYPOTRICHOSIS SIMPLEX OF THE SCALP 2, OMIM:613981; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KRIT1 Achchuthan Shanmugasundram reviewed gene: KRIT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1, OMIM:116860; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KRAS Achchuthan Shanmugasundram reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16773572, 16474405, 19396835; Phenotypes: NOONAN SYNDROME TYPE 3, OMIM:609942, CARDIOFACIOCUTANEOUS SYNDROME, OMIM:115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KPTN Achchuthan Shanmugasundram reviewed gene: KPTN: Rating: GREEN; Mode of pathogenicity: ; Publications: 24239382; Phenotypes: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, AND SEIZURES; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 KPNA7 Achchuthan Shanmugasundram reviewed gene: KPNA7: Rating: RED; Mode of pathogenicity: Other; Publications: 24045845; Phenotypes: Gomez-Lopez-Fernandes syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 KMT5B Achchuthan Shanmugasundram reviewed gene: KMT5B: Rating: GREEN; Mode of pathogenicity: ; Publications: 29276005, 28135719; Phenotypes: KMT5B syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KMT2E Achchuthan Shanmugasundram reviewed gene: KMT2E: Rating: GREEN; Mode of pathogenicity: ; Publications: 31079897, 34321323; Phenotypes: KMT2E-related neurodevelopmental disorder/O'Donnell-Luria-Rodan syndrome, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KMT2D Achchuthan Shanmugasundram reviewed gene: KMT2D: Rating: GREEN; Mode of pathogenicity: ; Publications: 29283410, 27573763, 31935506, 28404210, 31949313, 29482518, 25944076, 24739679, 32083401, 27302555, 25142838, 30569626, 25972376, 27530205, 35060672, 20711175, 21607748, 29914387, 28295206, 21671394; Phenotypes: KMT2D multiple malformations disorder, KABUKI SYNDROME, OMIM:147920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KMT2C Achchuthan Shanmugasundram reviewed gene: KMT2C: Rating: GREEN; Mode of pathogenicity: ; Publications: 29276005, 29069077; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KMT2B Achchuthan Shanmugasundram reviewed gene: KMT2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 27839873, 27992417; Phenotypes: Complex early-onset dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KMT2A Achchuthan Shanmugasundram reviewed gene: KMT2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 24818805, 22795537, 25929198, 30841869, 32311999, 24886118, 31250358, 27759909, 28815892, 25810209, 29203834, 31044088, 31168168, 27777327, 30549396, 27320412; Phenotypes: WIEDEMANN-STEINER SYNDROME, OMIM:605130; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KLHL7 Achchuthan Shanmugasundram reviewed gene: KLHL7: Rating: GREEN; Mode of pathogenicity: ; Publications: 29074562, 27392078; Phenotypes: Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa), Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 KLHL40 Achchuthan Shanmugasundram reviewed gene: KLHL40: Rating: GREEN; Mode of pathogenicity: ; Publications: 23746549; Phenotypes: NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE, OMIM:615348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 KLHL15 Achchuthan Shanmugasundram reviewed gene: KLHL15: Rating: RED; 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 KLF8 Achchuthan Shanmugasundram reviewed gene: KLF8: Rating: RED; Mode of pathogenicity: ; Publications: 22495311; Phenotypes: NONSYNDROMIC INTELLECTUAL DEVELOPMENTAL 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 KLF7 Achchuthan Shanmugasundram reviewed gene: KLF7: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29251763; Phenotypes: KLF7-related developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KLF1 Achchuthan Shanmugasundram reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21055716; Phenotypes: ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV, OMIM:613673; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KITLG Achchuthan Shanmugasundram reviewed gene: KITLG: Rating: RED; Mode of pathogenicity: Other; Publications: 26522471; Phenotypes: WAARDENBURG SYNDROME TYPE 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KIT Achchuthan Shanmugasundram reviewed gene: KIT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HUMAN PIEBALDISM, OMIM:172800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KIRREL3 Achchuthan Shanmugasundram reviewed gene: KIRREL3: Rating: RED; Mode of pathogenicity: Other; Publications: 19012874; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT TYPE 4, OMIM:612581; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KIF7 Achchuthan Shanmugasundram reviewed gene: KIF7: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, ACROCALLOSAL SYNDROME, OMIM:200990; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 KIF5C Achchuthan Shanmugasundram reviewed gene: KIF5C: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23603762; Phenotypes: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, OMIM:615282; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KIF5B Achchuthan Shanmugasundram reviewed gene: KIF5B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36018820, 35342932; Phenotypes: KIF5B-related disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KIF5A Achchuthan Shanmugasundram reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 27463701, 27414745; Phenotypes: KIF5A-associated severe neonatal myoclonus, OMIM:617235; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KIF4A Achchuthan Shanmugasundram reviewed gene: KIF4A: Rating: RED; Mode of pathogenicity: ; Publications: 24812067; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 KIF3B Achchuthan Shanmugasundram reviewed gene: KIF3B: Rating: RED; Mode of pathogenicity: Other; Publications: 32386558; Phenotypes: KIF3B-related ciliopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KIF2A Achchuthan Shanmugasundram reviewed gene: KIF2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23603762; Phenotypes: MALFORMATIONS OF CORTICAL DEVELOPMENT AND MICROCEPHALY.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KIF22 Achchuthan Shanmugasundram reviewed gene: KIF22: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22152678, 19277648; Phenotypes: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, OMIM:603546; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KIF1BP Achchuthan Shanmugasundram reviewed gene: KIF1BP: Rating: GREEN; Mode of pathogenicity: ; Publications: 15883926; Phenotypes: GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, OMIM:609460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 KIF1A Achchuthan Shanmugasundram reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25253658, 25265257, 26125038, 26486474, 21820098, 30385166, 21376300, 32096284, 26354034; Phenotypes: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, OMIM:614213, NESCAV SYNDROME, OMIM:614255; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 KIF14 Achchuthan Shanmugasundram reviewed gene: KIF14: Rating: GREEN; Mode of pathogenicity: ; Publications: 28892560, 24128419; Phenotypes: Severe microcephaly and short stature; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 KIF11 Achchuthan Shanmugasundram reviewed gene: KIF11: Rating: GREEN; Mode of pathogenicity: ; Publications: 22284827, 15930898; Phenotypes: AUTOSOMAL-DOMINANT MICROCEPHALY ASSOCIATED WITH LYMPHEDEMA AND/OR CHORIORETINOPATHY, OMIM:152950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KIDINS220 Achchuthan Shanmugasundram reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: ; Publications: 27005418, 28934391, 32909676; Phenotypes: KIDINS220-related Developmental Disorder, biallelic, Spastic paraplegia, intellectual disability, nystagmus, and obesity., OMIM:617296; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 KIAA1109 Achchuthan Shanmugasundram reviewed gene: KIAA1109: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25558065, 29290337; Phenotypes: Brain atrophy, Dandy Walker and Contractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 KIAA0586 Achchuthan Shanmugasundram reviewed gene: KIAA0586: Rating: GREEN; Mode of pathogenicity: ; Publications: 26437029, 26026149; Phenotypes: JOUBERT SYNDROME, OMIM:614615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 KIAA0391 Achchuthan Shanmugasundram reviewed gene: KIAA0391: Rating: RED; Mode of pathogenicity: ; Publications: 34715011; Phenotypes: PRORP-related mitochondrial disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 KDM6B Achchuthan Shanmugasundram reviewed gene: KDM6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, KDM6B-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KDM6A Achchuthan Shanmugasundram reviewed gene: KDM6A: Rating: GREEN; Mode of pathogenicity: ; Publications: 23076834, 22197486; Phenotypes: KABUKI SYNDROME 2, OMIM:300867; 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 KDM5C Achchuthan Shanmugasundram reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: ; Publications: 18203167, 15586325, 19826449, 18697827, 21575681, 16538222; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED JARID1C-RELATED, OMIM:300534; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 KDM5B Achchuthan Shanmugasundram reviewed gene: KDM5B: Rating: GREEN; Mode of pathogenicity: ; Publications: 29276005, 24307393, 28135719, 30409806, 28720891; Phenotypes: AUTISM, OMIM:209850, Autism; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 KDM5A Achchuthan Shanmugasundram reviewed gene: KDM5A: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 KDM4B Achchuthan Shanmugasundram reviewed gene: KDM4B: Rating: GREEN; Mode of pathogenicity: ; Publications: 33232677; Phenotypes: KDM4B-related Developmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KDM3B Achchuthan Shanmugasundram reviewed gene: KDM3B: Rating: GREEN; Mode of pathogenicity: ; Publications: 30929739; Phenotypes: DIETS-JONGMANS SYNDROME, OMIM:618846; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KDM2B Achchuthan Shanmugasundram reviewed gene: KDM2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 36322151; Phenotypes: KDM2B-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KDM1A Achchuthan Shanmugasundram reviewed gene: KDM1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29559475, 26656649; Phenotypes: Developmental delay and distinctive facial features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KDELR2 Achchuthan Shanmugasundram reviewed gene: KDELR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33053334; Phenotypes: KDELR2-related Osteogenesis Imperfecta; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 KCTD7 Achchuthan Shanmugasundram reviewed gene: KCTD7: Rating: GREEN; Mode of pathogenicity: ; Publications: 22693283, 17455289, 22748208; Phenotypes: PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3, OMIM:611726, NEURONAL CEROID LIPOFUSCINOSIS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 KCTD1 Achchuthan Shanmugasundram reviewed gene: KCTD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23541344; Phenotypes: SCALP-EAR-NIPPLE SYNDROME, OMIM:181270; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KCNT2 Achchuthan Shanmugasundram reviewed gene: KCNT2: Rating: RED; Mode of pathogenicity: Other; Publications: 29740868; Phenotypes: Developmental and infantile epileptic encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KCNT1 Achchuthan Shanmugasundram reviewed gene: KCNT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23086397, 23086396; Phenotypes: MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY, SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY, OMIM:614959; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KCNQ5 Achchuthan Shanmugasundram reviewed gene: KCNQ5: Rating: GREEN; Mode of pathogenicity: ; Publications: 28669405; Phenotypes: Intellectual Disability with or without Epileptic Encephalopathy, Intellectual Disability with or without Epileptic Encephalopathy, activating; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KCNQ3 Achchuthan Shanmugasundram reviewed gene: KCNQ3: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: KCNQ3 syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KCNQ2 Achchuthan Shanmugasundram reviewed gene: KCNQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25880994, 28832002, 27602407, 15249611, 28687180, 22926866, 25566516, 17872363, 27861786, 28728838, 25092550, 9430594, 23774309, 30107960, 11175290, 24107868, 11572947, 28631195, 31199083, 10323247, 23692823, 23621294, 31152295, 29687029, 31951342, 9425895, 16235065, 24371303, 22169383, 31418850, 30530441, 22275249, 12742592; Phenotypes: BENIGN NEONATAL EPILEPSY TYPE 1, OMIM:121200, EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7, OMIM:613720; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KCNQ1 Achchuthan Shanmugasundram reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: JERVELL AND LANGE-NIELSEN SYNDROME TYPE 1, OMIM:220400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 KCNN3 Achchuthan Shanmugasundram reviewed gene: KCNN3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31155282; Phenotypes: ZIMMERMANN-LABAND SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KCNMA1 Achchuthan Shanmugasundram reviewed gene: KCNMA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34224328, 31152168, 27567911, 15937479, 33178487, 29545233, 32132200, 29330545; Phenotypes: KCNMA1-related developmental delay, seizures and cerebellar atrophy, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, OMIM:609446; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 KCNK9 Achchuthan Shanmugasundram reviewed gene: KCNK9: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: BIRK-BAREL SYNDROME, OMIM:612292; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
DDG2P v3.12 KCNK4 Achchuthan Shanmugasundram reviewed gene: KCNK4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30290154; Phenotypes: Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth, FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KCNK3 Achchuthan Shanmugasundram reviewed gene: KCNK3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: KCNK3-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KCNJ8 Achchuthan Shanmugasundram reviewed gene: KCNJ8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24700710, 24176758, 25275207; Phenotypes: Cantu syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KCNJ6 Achchuthan Shanmugasundram reviewed gene: KCNJ6: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25620207, 36071510; Phenotypes: KEPPEN-LUBINSKY SYNDROME, OMIM:614098; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KCNJ11 Achchuthan Shanmugasundram reviewed gene: KCNJ11: Rating: GREEN; Mode of pathogenicity: ; Publications: 8923010, 9356020; Phenotypes: DIABETES MELLITUS, KCNJ11-RELATED TRANSIENT NEONATAL, OMIM:261090, FAMILIAL HYPERINSULINISM, OMIM:3272; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 KCNJ10 Achchuthan Shanmugasundram reviewed gene: KCNJ10: Rating: GREEN; Mode of pathogenicity: ; Publications: 19420365, 19289823, 21849804, 20651251; Phenotypes: SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-INTELLECTUAL DEVELOPMENTAL DISORDER-ELECTROLYTE IMBALANCE, OMIM:612780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 KCNH5 Achchuthan Shanmugasundram reviewed gene: KCNH5: Rating: GREEN; Mode of pathogenicity: ; Publications: 36307226, 23647072; Phenotypes: KCNH5-related epilepsy and epileptic encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KCNH1 Achchuthan Shanmugasundram reviewed gene: KCNH1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25420144; Phenotypes: TEMPLE BARRAISTER SYNDROME, OMIM:611816; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KCNE1 Achchuthan Shanmugasundram reviewed gene: KCNE1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30461122; Phenotypes: LONG QT SYNDROME-5, OMIM:613695, JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2, OMIM:612347; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 KCND3 Achchuthan Shanmugasundram reviewed gene: KCND3: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: KCND3-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KCNC3 Achchuthan Shanmugasundram reviewed gene: KCNC3: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: SPINOCEREBELLAR ATAXIA TYPE 13, OMIM:605259; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KCNC1 Achchuthan Shanmugasundram reviewed gene: KCNC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25401298; Phenotypes: EPILEPSY, PROGRESSIVE MYOCLONIC 7, OMIM:616187; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KCNB1 Achchuthan Shanmugasundram reviewed gene: KCNB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25164438; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26, OMIM:616056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KCNA4 Achchuthan Shanmugasundram reviewed gene: KCNA4: Rating: RED; Mode of pathogenicity: Other; Publications: 27582084; Phenotypes: KCN4 related abnormal striatum, congenital cataract and intellectual disability.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 KCNA2 Achchuthan Shanmugasundram reviewed gene: KCNA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25751627; Phenotypes: EPILEPTIC ENCEPHALOPATHY Gain-of-function, EPILEPTIC ENCEPHALOPATHY Loss-of-function; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KCNA1 Achchuthan Shanmugasundram reviewed gene: KCNA1: Rating: RED; Mode of pathogenicity: Other; Publications: 30055040, 33355533, 31586945; Phenotypes: KCNA1-related epileptic encephalopathy, biallelic, KCNA1-related epileptic encephalopathy, monoallelic; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 KBTBD13 Achchuthan Shanmugasundram reviewed gene: KBTBD13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21109227, 21104864, 12805120; Phenotypes: NEMALINE MYOPATHY 6, OMIM:609273; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KATNB1 Achchuthan Shanmugasundram reviewed gene: KATNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25521378, 25521379; Phenotypes: KATNB1- associated COMPLEX CEREBRAL MALFORMATIONS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 KAT6B Achchuthan Shanmugasundram reviewed gene: KAT6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 24458743, 29226580, 31871732, 30353918, 26370006, 28426343, 26334766, 28758091, 25424711, 23436491, 30569622, 22265017, 27696664, 30900427, 22077973, 22265014, 28696035, 28232779; Phenotypes: GENITOPATELLAR SYNDROME, OMIM:606170, SAY-BARBER-BIESECKER-YOUNG-SIMPSON SYNDROME, OMIM:603736; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KAT6A Achchuthan Shanmugasundram reviewed gene: KAT6A: Rating: GREEN; Mode of pathogenicity: ; Publications: 29899504, 25728777, 30775047, 27133397, 30245513, 25728775, 35892268, 32041641, 31754438; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 32, OMIM:616268; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KAT5 Achchuthan Shanmugasundram reviewed gene: KAT5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32822602; Phenotypes: KAT5-related Neurodevelopmental Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KARS Achchuthan Shanmugasundram reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 20920668, 23768514; Phenotypes: DEAFNESS, AUTOSOMAL RECESSIVE 89, OMIM:613916, KARS1-related leukoencephalopathy with or without deafness, OMIM:619147; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 KANSL1 Achchuthan Shanmugasundram reviewed gene: KANSL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22544363, 22544367; Phenotypes: CHROMOSOME 17Q21.31 MICRODELETION SYNDROME, OMIM:610443; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 KANK1 Achchuthan Shanmugasundram reviewed gene: KANK1: Rating: RED; Mode of pathogenicity: ; Publications: 16301218; Phenotypes: CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 2, OMIM:612900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 JMJD1C Achchuthan Shanmugasundram reviewed gene: JMJD1C: Rating: RED; Mode of pathogenicity: ; Publications: 26181491, 31954878; Phenotypes: JMJD1C-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 JARID2 Achchuthan Shanmugasundram reviewed gene: JARID2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33077894, 35533077; Phenotypes: JARID2-related Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 JAM3 Achchuthan Shanmugasundram reviewed gene: JAM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 23255084, 21109224; Phenotypes: HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, OMIM:613730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 JAK3 Achchuthan Shanmugasundram reviewed gene: JAK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 7659163, 10982185, 7481768, 11741532; Phenotypes: SEVERE COMBINED IMMUNE DEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL -POSITIVE, NK CELL-NEGATIVE, JAK3-RELATED, OMIM:600802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 JAGN1 Achchuthan Shanmugasundram reviewed gene: JAGN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25129144; Phenotypes: SEVERE CONGENITAL NEUTROPENIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 JAG2 Achchuthan Shanmugasundram reviewed gene: JAG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33861953; Phenotypes: JAG2-related muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 JAG1 Achchuthan Shanmugasundram reviewed gene: JAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35761784; Phenotypes: ALAGILLE SYNDROME, OMIM:118450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 IVD Achchuthan Shanmugasundram reviewed gene: IVD: Rating: GREEN; Mode of pathogenicity: ; Publications: 1310317, 2063866, 10677295, 15486829; Phenotypes: ISOVALERIC ACIDEMIA, OMIM:243500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ITPR1 Achchuthan Shanmugasundram reviewed gene: ITPR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27062503, 22986007, 27108798, 27108797; Phenotypes: Gillespie Syndrome, OMIM:206700, Gillespie Syndrome, monoallelic, OMIM:206700, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, OMIM:117360; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 ITGA8 Achchuthan Shanmugasundram reviewed gene: ITGA8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: RENAL HYPODYSPLASIA/APLASIA 1, OMIM:191830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ITGA7 Achchuthan Shanmugasundram reviewed gene: ITGA7: Rating: GREEN; Mode of pathogenicity: ; Publications: 9590299; Phenotypes: CONGENITAL MUSCULAR DYSTROPHY, OMIM:607855; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ITGA6 Achchuthan Shanmugasundram reviewed gene: ITGA6: Rating: RED; Mode of pathogenicity: ; Publications: 9185503; Phenotypes: EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA, OMIM:226730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ITGA3 Achchuthan Shanmugasundram reviewed gene: ITGA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 22512483; Phenotypes: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, OMIM:614748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ITCH Achchuthan Shanmugasundram reviewed gene: ITCH: Rating: GREEN; Mode of pathogenicity: ; Publications: 20170897; Phenotypes: AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM, OMIM:613385; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ISPD Achchuthan Shanmugasundram reviewed gene: ISPD: Rating: GREEN; Mode of pathogenicity: ; Publications: 22522420, 7604843, 22522421, 9492098, 23217329; Phenotypes: WALKER WARBURG SYNDROME, OMIM:614643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 IRX5 Achchuthan Shanmugasundram reviewed gene: IRX5: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, INTELLECTUAL DEVELOPMENTAL DISORDER, AND BONE FRAGILITY, OMIM:611174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 IRF6 Achchuthan Shanmugasundram reviewed gene: IRF6: Rating: GREEN; Mode of pathogenicity: ; Publications: 12920575, 19842205, 14757865, 12219090, 18478600, 14618417, 20803643; Phenotypes: POPLITEAL PTERYGIUM SYNDROME, OMIM:119500, VAN DER WOUDE SYNDROME, OMIM:119300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 IRF2BPL Achchuthan Shanmugasundram reviewed gene: IRF2BPL: Rating: GREEN; Mode of pathogenicity: ; Publications: 30193138; Phenotypes: Neurological Phenotypes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 IREB2 Achchuthan Shanmugasundram reviewed gene: IREB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 35602653, 31243445, 30915432; Phenotypes: IREB2-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 IQSEC2 Achchuthan Shanmugasundram reviewed gene: IQSEC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24306141, 26793055, 29026562, 26733290, 27665735, 30206421, 23674175, 31415821, 31490346, 31829726, 28295038, 20473311, 28815955, 30666632; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 1, OMIM:309530; 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 IQSEC1 Achchuthan Shanmugasundram reviewed gene: IQSEC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31607425; Phenotypes: Intellectual Disability, Developmental Delay, and Short Stature; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 IPO8 Achchuthan Shanmugasundram reviewed gene: IPO8: Rating: GREEN; Mode of pathogenicity: ; Publications: 34010604, 34010605; Phenotypes: IPO8-related syndromic thoracic aortic aneurysm; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 INPPL1 Achchuthan Shanmugasundram reviewed gene: INPPL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23273569; Phenotypes: OPSISMODYSPLASIA, OMIM:258480; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 INPP5K Achchuthan Shanmugasundram reviewed gene: INPP5K: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28190459, 28190456, 28940338; Phenotypes: Muscular dystrophy, congenital, with cataracts and intellectual disability, OMIM:617404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 INPP5E Achchuthan Shanmugasundram reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: ; Publications: 19668215, 19668216; Phenotypes: JOUBERT SYNDROME TYPE 1, OMIM:213300, INTELLECTUAL DEVELOPMENTAL DISORDER-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS, OMIM:610156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 INPP4A Achchuthan Shanmugasundram reviewed gene: INPP4A: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 IMPAD1 Achchuthan Shanmugasundram reviewed gene: IMPAD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21549340; Phenotypes: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GRAPP TYPE, OMIM:614078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 IL1RAPL1 Achchuthan Shanmugasundram reviewed gene: IL1RAPL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10471494, 18801879, 16470793, 19012350; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 21, OMIM:300143; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 IL11RA Achchuthan Shanmugasundram reviewed gene: IL11RA: Rating: GREEN; Mode of pathogenicity: ; Publications: 24498618; Phenotypes: Autosomal Recessive Craniosynostosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 IL11 Achchuthan Shanmugasundram reviewed gene: IL11: Rating: RED; Mode of pathogenicity: Other; Publications: 21741611; Phenotypes: CRANIOSYNOSTOSIS AND DENTAL ANOMALIES, OMIM:614188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 IKBKG Achchuthan Shanmugasundram reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: ; Publications: 10839543, 16228229, 11242109, 11224521, 9450877, 15356572, 12045264, 14726382, 15577852, 117248, 16818673, 11047757; Phenotypes: ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED, OMIM:300291, INCONTINENTIA PIGMENTI, OMIM:308300; 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 IHH Achchuthan Shanmugasundram reviewed gene: IHH: Rating: GREEN; Mode of pathogenicity: Other; Publications: 12384778, 12525541, 16871364, 19277064, 18629882, 12632327, 11455389; Phenotypes: BRACHYDACTYLY, TYPE A1, OMIM:112500, ACROCAPITOFEMORAL DYSPLASIA, OMIM:607778; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 IGSF1 Achchuthan Shanmugasundram reviewed gene: IGSF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23143598; Phenotypes: CENTRAL HYPOTHYROIDISM AND TESTICULAR ENLARGEMENT, OMIM:300888; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 IGHMBP2 Achchuthan Shanmugasundram reviewed gene: IGHMBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15290238, 11528396; Phenotypes: SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1, OMIM:604320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 IGFBP7 Achchuthan Shanmugasundram reviewed gene: IGFBP7: Rating: GREEN; Mode of pathogenicity: ; Publications: 12441727; Phenotypes: RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS, OMIM:614224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 IGF2 Achchuthan Shanmugasundram reviewed gene: IGF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26154720; Phenotypes: CHROMOSOME 11P15.5-RELATED RUSSELL-SILVER SYNDROME, OMIM:180860, BECKWITH-WIEDEMANN SYNDROME, OMIM:130650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
DDG2P v3.12 IGF1R Achchuthan Shanmugasundram reviewed gene: IGF1R: Rating: GREEN; Mode of pathogenicity: ; Publications: 15928254, 14657428, 22130793, 17264177; Phenotypes: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, biallelic, OMIM:270450, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, OMIM:270450; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 IGF1 Achchuthan Shanmugasundram reviewed gene: IGF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15769976, 14684690, 8857020; Phenotypes: INSULIN-LIKE GROWTH FACTOR I DEFICIENCY, OMIM:608747; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 IGBP1 Achchuthan Shanmugasundram reviewed gene: IGBP1: Rating: RED; Mode of pathogenicity: Other; Publications: 23871722; Phenotypes: AGENESIS OF THE CORPUS CALLOSUM WITH INTELLECTUAL DEVELOPMENTAL DISORDER-OCULAR COLOBOMA-MICROGNATHIA, OMIM:300472; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 IFT80 Achchuthan Shanmugasundram reviewed gene: IFT80: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17468754; Phenotypes: ASPHYXIATING THORACIC DYSTROPHY 2, OMIM:611263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 IFT74 Achchuthan Shanmugasundram reviewed gene: IFT74: Rating: GREEN; Mode of pathogenicity: ; Publications: 27486776, 33748949, 32144365, 33531668; Phenotypes: IFT74-associated ciliopathy, OMIM:617119; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 IFT43 Achchuthan Shanmugasundram reviewed gene: IFT43: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21378380; Phenotypes: CRANIOECTODERMAL DYSPLASIA TYPE 3, OMIM:614099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 IFT172 Achchuthan Shanmugasundram reviewed gene: IFT172: Rating: GREEN; Mode of pathogenicity: ; Publications: 24140113; Phenotypes: MAINZER-SALDINO SYNDROME, OMIM:266920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 IFT140 Achchuthan Shanmugasundram reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: ; Publications: 22503633; Phenotypes: MAINZER-SALDINO SYNDROME, OMIM:266920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 IFT122 Achchuthan Shanmugasundram reviewed gene: IFT122: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17022080, 19760620, 20493458; Phenotypes: CRANIOECTODERMAL DYSPLASIA, OMIM:218330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 IFITM5 Achchuthan Shanmugasundram reviewed gene: IFITM5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22863190, 22863195; Phenotypes: OSTEOGENESIS IMPERFECTA TYPE V, OMIM:610967; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 IFIH1 Achchuthan Shanmugasundram reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24995871, 25620204; Phenotypes: AICARDI-GOUTIERES SYNDROME 7, OMIM:615846, SINGLETON-MERTEN SYNDROME, OMIM:182250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 IDUA Achchuthan Shanmugasundram reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: ; Publications: 8328452, 7951228, 10466419, 4221470, 10735634, 6821579, 7550232, 9391892, 8664897; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 1S, OMIM:607016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 IDS Achchuthan Shanmugasundram reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: ; Publications: 1284597, 1303211, 1550586, 7581397, 8364592, 1355630, 8940265, 12794697, 1639384; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 2, OMIM:309900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 IARS2 Achchuthan Shanmugasundram reviewed gene: IARS2: Rating: RED; Mode of pathogenicity: ; Publications: 25130867, 28328135; Phenotypes: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, OMIM:616007; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 IARS Achchuthan Shanmugasundram reviewed gene: IARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 27426735; Phenotypes: Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HYLS1 Achchuthan Shanmugasundram reviewed gene: HYLS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15843405; Phenotypes: HYDROLETHALUS SYNDROME TYPE 1, OMIM:236680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HYDIN Achchuthan Shanmugasundram reviewed gene: HYDIN: Rating: GREEN; Mode of pathogenicity: ; Publications: 23022101, 14985390; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 5, OMIM:608647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HYAL2 Achchuthan Shanmugasundram reviewed gene: HYAL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28081210, 34906488; Phenotypes: HYAL2-related syndrome with cleft lip and palate and congenital cardiac anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HYAL1 Achchuthan Shanmugasundram reviewed gene: HYAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8793927; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 9, OMIM:601492; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HUWE1 Achchuthan Shanmugasundram reviewed gene: HUWE1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29180823, 18252223, 23721686; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED TURNER TYPE, OMIM:300706; 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 HTRA2 Achchuthan Shanmugasundram reviewed gene: HTRA2: Rating: RED; Mode of pathogenicity: ; Publications: 27696117; Phenotypes: Early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HSPG2 Achchuthan Shanmugasundram reviewed gene: HSPG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11101850, 11279527, 11941538; Phenotypes: DYSSEGMENTAL DYSPLASIA SILVERMAN-HANDMAKER TYPE, OMIM:224410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HSPD1 Achchuthan Shanmugasundram reviewed gene: HSPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LEUKODYSTROPHY HYPOMYELINATING TYPE 4, OMIM:612233; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HSF4 Achchuthan Shanmugasundram reviewed gene: HSF4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16876512, 12089525, 29243736, 24637349; Phenotypes: CATARACT 5, MULTIPLE TYPES, OMIM:116800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 HSD3B7 Achchuthan Shanmugasundram reviewed gene: HSD3B7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, OMIM:607765; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HSD17B4 Achchuthan Shanmugasundram reviewed gene: HSD17B4: Rating: GREEN; Mode of pathogenicity: ; Publications: 9345094, 10400999, 11992265, 11743515, 9482850, 4061497, 2921319; Phenotypes: D-BIFUNCTIONAL PROTEIN DEFICIENCY, OMIM:261515; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HSD17B10 Achchuthan Shanmugasundram reviewed gene: HSD17B10: Rating: GREEN; Mode of pathogenicity: ; Publications: 10521307, 12555940, 16148061, 12696021; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED TYPE 10, OMIM:300220, 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY, OMIM:300438; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 HS2ST1 Achchuthan Shanmugasundram reviewed gene: HS2ST1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33159882; Phenotypes: HS2ST1-related Developmental Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HRAS Achchuthan Shanmugasundram reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17054105, 16835863, 18039947, 18247425, 17412879, 17468812, 16170316, 19995790, 16443854, 17056636; Phenotypes: CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OMIM:218040, COSTELLO SYNDROME, OMIM:218040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 HR Achchuthan Shanmugasundram reviewed gene: HR: Rating: GREEN; Mode of pathogenicity: ; Publications: 19897589, 17680008, 9856480, 9758627, 9445480, 10051399, 10777357, 10205263, 10469319, 12271294, 9463324; Phenotypes: ATRICHIA WITH PAPULAR LESIONS, OMIM:209500, ALOPECIA UNIVERSALIS, OMIM:146550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HPSE2 Achchuthan Shanmugasundram reviewed gene: HPSE2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19839856, 19669792, 11446407, 20560210; Phenotypes: UROFACIAL SYNDROME, OMIM:236730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HPS1 Achchuthan Shanmugasundram reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9705234, 9497254, 8274781, 10971344, 8896559; Phenotypes: HERMANSKY-PUDLAK SYNDROME, OMIM:203300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HPRT1 Achchuthan Shanmugasundram reviewed gene: HPRT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23975452; Phenotypes: LESCH-NYHAN SYNDROME, OMIM:300322; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 HPGD Achchuthan Shanmugasundram reviewed gene: HPGD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CRANIOOSTEOARTHROPATHY, OMIM:259100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HPDL Achchuthan Shanmugasundram reviewed gene: HPDL: Rating: GREEN; Mode of pathogenicity: ; Publications: 32707086; Phenotypes: HPDL Neurodegenerative Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HPD Achchuthan Shanmugasundram reviewed gene: HPD: Rating: GREEN; Mode of pathogenicity: ; Publications: 10942115; Phenotypes: TYROSINEMIA TYPE 3, OMIM:276710, HAWKINSINURIA, OMIM:140350; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 HOXD13 Achchuthan Shanmugasundram reviewed gene: HOXD13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 12900906, 12414828, 17236141, 9758628, 12649808, 8817328, 19060004; Phenotypes: BRACHYDACTYLY-SYNDACTYLY SYNDROME, OMIM:610713; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 HOXC13 Achchuthan Shanmugasundram reviewed gene: HOXC13: Rating: GREEN; Mode of pathogenicity: ; Publications: 23315978, 23063621; Phenotypes: PURE HAIR AND NAIL ECTODERMAL DYSPLASIA, OMIM:614931; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HOXB1 Achchuthan Shanmugasundram reviewed gene: HOXB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22770981; Phenotypes: FACIAL PARESIS, HEREDITARY CONGENITAL, 3, OMIM:614744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HOXA13 Achchuthan Shanmugasundram reviewed gene: HOXA13: Rating: GREEN; Mode of pathogenicity: ; Publications: 10839976; Phenotypes: HAND-FOOT-GENITAL SYNDROME, OMIM:140000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 HOXA11 Achchuthan Shanmugasundram reviewed gene: HOXA11: Rating: RED; Mode of pathogenicity: ; Publications: 26581901; Phenotypes: Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 HOXA1 Achchuthan Shanmugasundram reviewed gene: HOXA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16155570, 18412118; Phenotypes: BOSLEY-SALIH-ALORAINY SYNDROME, OMIM:601536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HNRNPU Achchuthan Shanmugasundram reviewed gene: HNRNPU: Rating: GREEN; Mode of pathogenicity: ; Publications: 23934111, 35138025; Phenotypes: EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 HNRNPR Achchuthan Shanmugasundram reviewed gene: HNRNPR: Rating: GREEN; Mode of pathogenicity: ; Publications: 31079900; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 HNRNPK Achchuthan Shanmugasundram reviewed gene: HNRNPK: Rating: GREEN; Mode of pathogenicity: ; Publications: 30998304, 29904177; Phenotypes: Au-Kline Syndrome, OMIM:616580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 HNRNPH2 Achchuthan Shanmugasundram reviewed gene: HNRNPH2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27545675; Phenotypes: Neurodevelopmental Disorder in Females; 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 HNRNPH1 Achchuthan Shanmugasundram reviewed gene: HNRNPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29938792, 32335897; Phenotypes: HNRNPH1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 HNRNPD Achchuthan Shanmugasundram reviewed gene: HNRNPD: Rating: GREEN; Mode of pathogenicity: ; Publications: 33057194; Phenotypes: HNRNPD-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 HNRNPA2B1 Achchuthan Shanmugasundram reviewed gene: HNRNPA2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35484142; Phenotypes: Early-onset oculopharyngeal muscular dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 HNF4A Achchuthan Shanmugasundram reviewed gene: HNF4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 8945471, 24285859; Phenotypes: HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1, OMIM:125850, ATYPICAL DOMINANT FANCONI SYNDROME WITH MODY, OMIM:315353; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 HNF1B Achchuthan Shanmugasundram reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 11085914, 9398836, 11562418, 17440011, 15181075, 10484768, 10720943, 15068978, 12675839, 11317673; Phenotypes: RENAL CYSTS AND DIABETES SYNDROME, OMIM:137920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 HMX1 Achchuthan Shanmugasundram reviewed gene: HMX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18423520, 25574057, 29140751; Phenotypes: OCULOAURICULAR SYNDROME, OMIM:612109; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HMGCS2 Achchuthan Shanmugasundram reviewed gene: HMGCS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9337379, 12647205, 11228257, 9727719, 11479731; Phenotypes: 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY, OMIM:605911; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HMGCL Achchuthan Shanmugasundram reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: ; Publications: 11129331, 9463337, 8617516; Phenotypes: 3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY, OMIM:246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HMGB3 Achchuthan Shanmugasundram reviewed gene: HMGB3: Rating: RED; Mode of pathogenicity: ; Publications: 24993872; Phenotypes: Colobomatous microphthalmia, microcephaly, intellectual disability, and short stature; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 HMGB1 Achchuthan Shanmugasundram reviewed gene: HMGB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36755093, 34164801; Phenotypes: HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome, HMGB1-related intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 HLCS Achchuthan Shanmugasundram reviewed gene: HLCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, OMIM:253270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HK1 Achchuthan Shanmugasundram reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HK1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 HIVEP2 Achchuthan Shanmugasundram reviewed gene: HIVEP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27003583, 26153216; Phenotypes: HIVEP2 associated syndromic developmental delay with intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 HIST3H3 Achchuthan Shanmugasundram reviewed gene: HIST3H3: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HIST1H4J Achchuthan Shanmugasundram reviewed gene: HIST1H4J: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Intellectual disability with facial dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 HIST1H4C Achchuthan Shanmugasundram reviewed gene: HIST1H4C: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28920961; Phenotypes: HIST1H4C; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 HIST1H4B Achchuthan Shanmugasundram reviewed gene: HIST1H4B: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HIST1H2AC Achchuthan Shanmugasundram reviewed gene: HIST1H2AC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: HIST1H2AC-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 HIST1H1E Achchuthan Shanmugasundram reviewed gene: HIST1H1E: Rating: GREEN; Mode of pathogenicity: ; Publications: 28475857, 31400068; Phenotypes: Rahman syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 HIRA Achchuthan Shanmugasundram reviewed gene: HIRA: Rating: RED; Mode of pathogenicity: ; Publications: 33417013; Phenotypes: HIRA-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 HINT1 Achchuthan Shanmugasundram reviewed gene: HINT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22961002; Phenotypes: NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, OMIM:137200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HIBCH Achchuthan Shanmugasundram reviewed gene: HIBCH: Rating: GREEN; Mode of pathogenicity: ; Publications: 7122152; Phenotypes: HIBCH DEFICIENCY, OMIM:250620; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HGSNAT Achchuthan Shanmugasundram reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: ; Publications: 18518886, 16960811, 20825431, 17033958, 18024218; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 3C, OMIM:252930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HEXB Achchuthan Shanmugasundram reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: ; Publications: 9888387, 8045559, 3014997, 571983, 2973515, 18758829, 1531140, 2921040, 7633435, 10724; Phenotypes: GM2-GANGLIOSIDOSIS TYPE 2, OMIM:268800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HEXA Achchuthan Shanmugasundram reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: ; Publications: 2140574, 14648242, 9401004, 2848800, 6959123, 1483696, 21937992, 2934978, 1532289, 9272736, 1301190, 8757036, 2522679, 1322637, 2976595, 1384323, 15108204, 1301958, 1827945, 2961848, 1833974, 1837283, 3362213, 9603435, 8490625, 2954459, 1825014, 1302612, 3754980; Phenotypes: GM2-GANGLIOSIDOSIS TYPE 1, OMIM:272800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HESX1 Achchuthan Shanmugasundram reviewed gene: HESX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HESX1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY, OMIM:319358, SEPTOOPTIC DYSPLASIA, OMIM:182230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 HERC2 Achchuthan Shanmugasundram reviewed gene: HERC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32571899, 23243086, 30902390, 23065719; Phenotypes: HERC2-related neurodevelopmental disorder, OMIM:615516; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HERC1 Achchuthan Shanmugasundram reviewed gene: HERC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28323226, 27108999, 26153217, 26138117; Phenotypes: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION, OMIM:617011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HECW2 Achchuthan Shanmugasundram reviewed gene: HECW2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35753050, 34321324, 27334371, 27389779; Phenotypes: HECW2-associated neurodevelopmental disorder, HECW2-related neurodevelopmental disorder, OMIM:617268; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 HDAC8 Achchuthan Shanmugasundram reviewed gene: HDAC8: Rating: GREEN; Mode of pathogenicity: ; Publications: 29279609, 25102094, 29991052, 22885700, 29519750, 26671848, 24403048; Phenotypes: CORNELIA DE LANGE-LIKE SYNDROME HDAC8 XLR, Cornelia de Lange Syndrome HDAC8 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 HDAC4 Achchuthan Shanmugasundram reviewed gene: HDAC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 33537682, 20691407, 30848064; Phenotypes: BRACHYDACTYLY-INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME, OMIM:600430, HDAC4-related intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 HCN1 Achchuthan Shanmugasundram reviewed gene: HCN1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24747641; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24, OMIM:615871; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 HCFC1 Achchuthan Shanmugasundram reviewed gene: HCFC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23000143, 1870093, 24011988; Phenotypes: COBALAMIN DISORDER, INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3, OMIM:309541; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 HCCS Achchuthan Shanmugasundram reviewed gene: HCCS: Rating: GREEN; Mode of pathogenicity: ; Publications: 17033964; Phenotypes: MICROPHTHALMIA SYNDROMIC TYPE 7, 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 HAX1 Achchuthan Shanmugasundram reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18611981, 18337561, 19036076, 17187068; Phenotypes: NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, OMIM:610738; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HARS Achchuthan Shanmugasundram reviewed gene: HARS: Rating: RED; Mode of pathogenicity: Other; Publications: 22279524; Phenotypes: USHER SYNDROME, OMIM:614504; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HADHA Achchuthan Shanmugasundram reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: ; Publications: 7811722; Phenotypes: LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, OMIM:609016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HADH Achchuthan Shanmugasundram reviewed gene: HADH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-HYDROXYACYL-COENZYME A DEHYDROGENASE DEFICIENCY, OMIM:231530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HACE1 Achchuthan Shanmugasundram reviewed gene: HACE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26437029, 26424145; Phenotypes: HACE1 related disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HACD1 Achchuthan Shanmugasundram reviewed gene: HACD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32426512, 33354762, 23933735; Phenotypes: HACD1-related congenital myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 HAAO Achchuthan Shanmugasundram reviewed gene: HAAO: Rating: GREEN; Mode of pathogenicity: ; Publications: 33942433, 28792876; Phenotypes: NAD deficiency disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 H3F3B Achchuthan Shanmugasundram reviewed gene: H3F3B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33268356; Phenotypes: H3F3B associated neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 H3F3A Achchuthan Shanmugasundram reviewed gene: H3F3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33268356, 33057194, 31942419; Phenotypes: Craniofacial with neurodevelopment disorders, H3F3A associated neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GZF1 Achchuthan Shanmugasundram reviewed gene: GZF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28475863; Phenotypes: JOINT LAXITY, SHORT STATURE, AND MYOPIA, OMIM:617662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GUSB Achchuthan Shanmugasundram reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: ; Publications: 7633414, 6811712, 12522561, 9490302, 1702266, 7573038, 1833732, 4265197; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 7, OMIM:253220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GUCY2C Achchuthan Shanmugasundram reviewed gene: GUCY2C: Rating: GREEN; Mode of pathogenicity: ; Publications: 22436048; Phenotypes: FAMILIAL DIARRHEA DIARRHEA 6, OMIM:614616, MECONIUM ILEUS, OMIM:614665; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 GTPBP3 Achchuthan Shanmugasundram reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 25434004; Phenotypes: MITOCHONDRIAL TRANSLATION DEFECT ASSOCIATED WITH HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ENCEPHALOPATHY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GTPBP2 Achchuthan Shanmugasundram reviewed gene: GTPBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26675814, 30790272, 29449720; Phenotypes: JABERI-ELAHI SYNDROME, OMIM:617988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GTF2IRD1 Achchuthan Shanmugasundram reviewed gene: GTF2IRD1: Rating: RED; Mode of pathogenicity: Other; Publications: 36308390; Phenotypes: GTF2IRD1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GTF2H5 Achchuthan Shanmugasundram reviewed gene: GTF2H5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: TRICHOTHIODYSTROPHY PHOTOSENSITIVE, OMIM:601675; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GTF2E2 Achchuthan Shanmugasundram reviewed gene: GTF2E2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26996949; Phenotypes: DNA Repair-Proficient Trichothiodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GSPT2 Achchuthan Shanmugasundram reviewed gene: GSPT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: XL INTELLECTUAL DISABILITY; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 GRM7 Achchuthan Shanmugasundram reviewed gene: GRM7: Rating: GREEN; Mode of pathogenicity: ; Publications: 32286009, 28097321, 27435318; Phenotypes: GRM7-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GRM6 Achchuthan Shanmugasundram reviewed gene: GRM6: Rating: GREEN; Mode of pathogenicity: ; Publications: 16249515, 15781871, 17405131; Phenotypes: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B, OMIM:257270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GRM1 Achchuthan Shanmugasundram reviewed gene: GRM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22901947; Phenotypes: CONGENITAL CEREBELLAR ATAXIA, OMIM:614831; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GRIN2D Achchuthan Shanmugasundram reviewed gene: GRIN2D: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27616483; Phenotypes: Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GRIN2B Achchuthan Shanmugasundram reviewed gene: GRIN2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 24272827, 31085877, 23934111, 28377535, 23033978, 20890276, 23160955, 27605359, 23718928, 35393335, 30151416; Phenotypes: EPILEPTIC ENCEPHALOPATHY, INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, OMIM:613970; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GRIN2A Achchuthan Shanmugasundram reviewed gene: GRIN2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 23033978, 35983985, 20890276, 23933818; Phenotypes: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:245570, Autosomal recessive GRIN2A-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GRIN1 Achchuthan Shanmugasundram reviewed gene: GRIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27164704, 34611970, 28051072, 23934111, 26350515, 35393335; Phenotypes: GRIN1-associated Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, OMIM:617820, EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 GRIK2 Achchuthan Shanmugasundram reviewed gene: GRIK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17847003, 34375587; Phenotypes: GRIK2-related intellectual disability and hypomyelination, INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 6, OMIM:611092; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 GRID2 Achchuthan Shanmugasundram reviewed gene: GRID2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31183084, 25841024, 24078737, 23611888, 28856174; Phenotypes: GRID2-related cerebellar ataxia, biallelic, GRID2-related cerebellar ataxia, monoallelic; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 GRIA4 Achchuthan Shanmugasundram reviewed gene: GRIA4: Rating: RED; Mode of pathogenicity: Other; Publications: 29220673; Phenotypes: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES, OMIM:617864; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GRIA3 Achchuthan Shanmugasundram reviewed gene: GRIA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 17989220; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 94, OMIM:300699; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 GRIA2 Achchuthan Shanmugasundram reviewed gene: GRIA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GRIA2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GRIA1 Achchuthan Shanmugasundram reviewed gene: GRIA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23033978, 35675825; Phenotypes: GRIA1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GRHL3 Achchuthan Shanmugasundram reviewed gene: GRHL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 24360809; Phenotypes: VAN DER WOUDE SYNDROME, OMIM:119300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GRHL2 Achchuthan Shanmugasundram reviewed gene: GRHL2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME, OMIM:616029; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GREB1L Achchuthan Shanmugasundram reviewed gene: GREB1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 29261186, 32378186, 32598191, 29220675, 29100090, 31424080, 29100091; Phenotypes: Renal hypodysplasia/aplasia 3, OMIM:617805; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GPX4 Achchuthan Shanmugasundram reviewed gene: GPX4: Rating: GREEN; Mode of pathogenicity: ; Publications: 24706940; Phenotypes: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, OMIM:250220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GPSM2 Achchuthan Shanmugasundram reviewed gene: GPSM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22578326; Phenotypes: CHUDLEY-MCCULLOUGH SYNDROME, OMIM:604213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GPHN Achchuthan Shanmugasundram reviewed gene: GPHN: Rating: RED; Mode of pathogenicity: ; Publications: 11095995, 22040219; Phenotypes: GPHN-related molybdenum cofactor deficiency, OMIM:615501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GPC6 Achchuthan Shanmugasundram reviewed gene: GPC6: Rating: GREEN; Mode of pathogenicity: ; Publications: 19481194; Phenotypes: OMODYSPLASIA TYPE 1 (OMOD1), OMIM:258315; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GPC4 Achchuthan Shanmugasundram reviewed gene: GPC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 30982611; Phenotypes: KEIPERT SYNDROME, OMIM:301026; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 GPC3 Achchuthan Shanmugasundram reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 8589713, 18203194, 9950367, 17850639, 16158429, 10814714; Phenotypes: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, OMIM:312870; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 GPAA1 Achchuthan Shanmugasundram reviewed gene: GPAA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29100095; Phenotypes: Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia, OMIM:617810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GOT2 Achchuthan Shanmugasundram reviewed gene: GOT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31422819; Phenotypes: Malate-Aspartate Shuttle-Related Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GORAB Achchuthan Shanmugasundram reviewed gene: GORAB: Rating: GREEN; Mode of pathogenicity: ; Publications: 18997784; Phenotypes: Geroderma osteodysplasticum, OMIM:231070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GON4L Achchuthan Shanmugasundram reviewed gene: GON4L: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GOLGA2 Achchuthan Shanmugasundram reviewed gene: GOLGA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26742501, 34424553; Phenotypes: GOLGA2-related myopathy, seizures and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GNS Achchuthan Shanmugasundram reviewed gene: GNS: Rating: GREEN; Mode of pathogenicity: ; Publications: 19650410, 12624138, 17998446, 6450420, 3100754; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 3D, OMIM:252940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GNPTG Achchuthan Shanmugasundram reviewed gene: GNPTG: Rating: GREEN; Mode of pathogenicity: ; Publications: 10712439, 20034096, 19659762, 19370764, 34341521; Phenotypes: MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C, OMIM:252605; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GNPTAB Achchuthan Shanmugasundram reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: ; Publications: 19197337, 16116615, 16465621, 16200072, 16094673, 15633164, 34341521; Phenotypes: MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP A, OMIM:252600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GNPAT Achchuthan Shanmugasundram reviewed gene: GNPAT: Rating: GREEN; Mode of pathogenicity: ; Publications: 9536089, 1405476, 9843043, 21990100; Phenotypes: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2, OMIM:222765; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GNE Achchuthan Shanmugasundram reviewed gene: GNE: Rating: RED; Mode of pathogenicity: Other; Publications: 11486897, 35121750, 11326336, 10356312, 29923088, 27142465, 10330343, 32053088; Phenotypes: GNE-associated congenital myopathy, GNE-associated sialuria, OMIM:269921; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 GNB5 Achchuthan Shanmugasundram reviewed gene: GNB5: Rating: GREEN; Mode of pathogenicity: ; Publications: 27523599; Phenotypes: Sinus Bradycardia and Cognitive Disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GNB3 Achchuthan Shanmugasundram reviewed gene: GNB3: Rating: RED; Mode of pathogenicity: ; Publications: 27063057; Phenotypes: GNB3 Autosomal-Recessive Congenital Stationary Night Blindness.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GNB2 Achchuthan Shanmugasundram reviewed gene: GNB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28219978, 33057194, 34183358, 31698099; Phenotypes: GNB2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GNB1 Achchuthan Shanmugasundram reviewed gene: GNB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30194818, 27108799; Phenotypes: Severe Neurodevelopmental Disability, Hypotonia, and Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GNAS Achchuthan Shanmugasundram reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 1944469, 18182455, 1505964, 11095461, 10487696, 17299070, 2122458, 15592469, 9328353, 8702665, 11029463, 11073544, 15126527, 8072545, 1594625; Phenotypes: ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580, MCCUNE-ALBRIGHT SYNDROME, OMIM:174800, PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GNAQ Achchuthan Shanmugasundram reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27058448; Phenotypes: Congenital Hemangioma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GNAO1 Achchuthan Shanmugasundram reviewed gene: GNAO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23993195; Phenotypes: EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GNAI3 Achchuthan Shanmugasundram reviewed gene: GNAI3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11102934; Phenotypes: AURICULOCONDYLAR SYNDROME, OMIM:602483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GNAI1 Achchuthan Shanmugasundram reviewed gene: GNAI1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33473207; Phenotypes: GNAI1 syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GNA14 Achchuthan Shanmugasundram reviewed gene: GNA14: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27476652; Phenotypes: Congenital vascular tumours; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GNA11 Achchuthan Shanmugasundram reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27058448; Phenotypes: Congenital Hemangioma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GMPPB Achchuthan Shanmugasundram reviewed gene: GMPPB: Rating: GREEN; Mode of pathogenicity: ; Publications: 23768512; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, OMIM:615350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GMPPA Achchuthan Shanmugasundram reviewed gene: GMPPA: Rating: GREEN; Mode of pathogenicity: ; Publications: 24035193, 35665995; Phenotypes: GLYCOSYLATION DISORDER CHARACTERIZED BY INTELLECTUAL DISABILITY AND AUTONOMIC DYSFUNCTION; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GMNN Achchuthan Shanmugasundram reviewed gene: GMNN: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26637980; Phenotypes: Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GM2A Achchuthan Shanmugasundram reviewed gene: GM2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 10364519, 8900233, 1915858, 8244332; Phenotypes: GM2-GANGLIOSIDOSIS TYPE AB, OMIM:272750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GLUL Achchuthan Shanmugasundram reviewed gene: GLUL: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21353613, 16267323; Phenotypes: CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY, OMIM:610015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GLUD1 Achchuthan Shanmugasundram reviewed gene: GLUD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9571255, 11214910, 10636977; Phenotypes: HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, OMIM:606762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GLRB Achchuthan Shanmugasundram reviewed gene: GLRB: Rating: GREEN; Mode of pathogenicity: ; Publications: 24030948, 32911248, 23182654, 23184146, 21391991, 23238346, 11929858, 33323420; Phenotypes: GLRB-related hyperexplexia, biallelic, OMIM:614619, GLRB-related hyperexplexia, monoallelic; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GLRA1 Achchuthan Shanmugasundram reviewed gene: GLRA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24030948, 20631190, 9920650, 32319239, 30109271, 24970905, 28985719, 25036534, 32332682; Phenotypes: GLRA1-related hyperexplexia, biallelic, OMIM:149400, GLRA1-related hyperexplexia, monoallelic, OMIM:149400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 GLMN Achchuthan Shanmugasundram reviewed gene: GLMN: Rating: GREEN; Mode of pathogenicity: ; Publications: 11845407, 11175297; Phenotypes: GLOMUVENOUS MALFORMATIONS, OMIM:138000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GLIS3 Achchuthan Shanmugasundram reviewed gene: GLIS3: Rating: GREEN; Mode of pathogenicity: ; Publications: 12966531; Phenotypes: DIABETES MELLITUS NEONATAL WITH CONGENITAL HYPOTHYROIDISM, OMIM:610199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GLIS2 Achchuthan Shanmugasundram reviewed gene: GLIS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17618285; Phenotypes: NEPHRONOPHTHISIS 7, OMIM:611498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GLI3 Achchuthan Shanmugasundram reviewed gene: GLI3: Rating: GREEN; Mode of pathogenicity: ; Publications: 10441570, 9054938, 10945658; Phenotypes: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, OMIM:175700, PALLISTER-HALL SYNDROME, OMIM:146510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GLI2 Achchuthan Shanmugasundram reviewed gene: GLI2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GLI2-RELATED HOLOPROSENCEPHALY, OMIM:261768; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GLE1 Achchuthan Shanmugasundram reviewed gene: GLE1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 18204449; Phenotypes: ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE, OMIM:611890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GLDN Achchuthan Shanmugasundram reviewed gene: GLDN: Rating: GREEN; Mode of pathogenicity: ; Publications: 27616481; Phenotypes: Lethal arthroogryposis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GLDC Achchuthan Shanmugasundram reviewed gene: GLDC: Rating: GREEN; Mode of pathogenicity: ; Publications: 10873393, 15864413, 15851735, 15824356, 1634607, 9621520, 10798358, 11592811, 15236413, 9600239, 445864, 8005589; Phenotypes: GLDC-RELATED GLYCINE ENCEPHALOPATHY, OMIM:605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GLB1 Achchuthan Shanmugasundram reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 1907800, 12644936, 1606711, 10841810, 1928092, 7586649, 1909089, 8199591, 8213816, 10737981, 8198123, 11511921; Phenotypes: GM1-GANGLIOSIDOSIS TYPE 3, OMIM:230650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GK Achchuthan Shanmugasundram reviewed gene: GK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GLYCEROL KINASE DEFICIENCY, OMIM:307030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 GJC2 Achchuthan Shanmugasundram reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20537300, 8733901, 18094336, 16969684, 15192806, 19056803; Phenotypes: LEUKODYSTROPHY, HYPOMYELINATING, 2, OMIM:608804, LYMPHEDEMA, HEREDITARY, IC, OMIM:613480; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 GJB3 Achchuthan Shanmugasundram reviewed gene: GJB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200, DEAFNESS, AUTOSOMAL RECESSIVE; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 GJA8 Achchuthan Shanmugasundram reviewed gene: GJA8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16604058, 18006672, 14627691, 9497259, 10480374, 11846744; Phenotypes: CATARACT-MICROCORNEA SYNDROME, OMIM:116150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GJA3 Achchuthan Shanmugasundram reviewed gene: GJA3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15448617, 21681855, 22312188, 10746562, 22550389, 22876138, 10205266; Phenotypes: CATARACT ZONULAR PULVERULENT CATARACT TYPE 3, OMIM:601885; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GJA1 Achchuthan Shanmugasundram reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15108203, 2157843, 16816024, 14974090, 4209752, 2309863, 12457340, 15551259, 7815444, 21670345, 16709485, 17256797, 14981729, 11470490; Phenotypes: HALLERMANN-STREIFF SYNDROME, OMIM:234100, SYNDACTYLY TYPE 3, OMIM:186100, AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200, HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550, AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 GIGYF1 Achchuthan Shanmugasundram reviewed gene: GIGYF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33057194; Phenotypes: GIGYF1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GHR Achchuthan Shanmugasundram reviewed gene: GHR: Rating: GREEN; Mode of pathogenicity: ; Publications: 11468686, 15001620, 8626815, 12679461, 15536163, 2779634, 9661642, 8488849, 2813379, 17405847, 9851797, 9360529, 9467570, 2233903; Phenotypes: PITUITARY DWARFISM II, OMIM:262500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GFM1 Achchuthan Shanmugasundram reviewed gene: GFM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17160893; Phenotypes: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, OMIM:609060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GFER Achchuthan Shanmugasundram reviewed gene: GFER: Rating: RED; Mode of pathogenicity: ; Publications: 19409522; Phenotypes: MITOCHONDRIAL PROGRESSIVE MYOPATHY WITH CONGENITAL CATARACT HEARING LOSS AND DEVELOPMENTAL DELAY (MPMCHD, OMIM:613076; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GFAP Achchuthan Shanmugasundram reviewed gene: GFAP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11138011, 12447932, 11567214, 12975300, 14557587, 12034796; Phenotypes: ALEXANDER DISEASE, OMIM:203450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GEMIN5 Achchuthan Shanmugasundram reviewed gene: GEMIN5: Rating: GREEN; Mode of pathogenicity: ; Publications: 33963192; Phenotypes: GEMIN5-associated neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM:619333; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GEMIN4 Achchuthan Shanmugasundram reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30237576, 35861185, 27878435, 25558065; Phenotypes: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES, OMIM:617913; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GDI1 Achchuthan Shanmugasundram reviewed gene: GDI1: Rating: RED; Mode of pathogenicity: ; Publications: 28863211, 22002931, 9620768, 21736009; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 41, OMIM:300849; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 GDF6 Achchuthan Shanmugasundram reviewed gene: GDF6: Rating: GREEN; Mode of pathogenicity: Other; Publications: 18425797, 21070663, 32737436, 25457163, 19129173; Phenotypes: GDF6 Oculo-Skeletal Syndrome, OMIM:118100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GDF5 Achchuthan Shanmugasundram reviewed gene: GDF5: Rating: GREEN; Mode of pathogenicity: ; Publications: 16222676, 11857750, 12124730, 16532400, 11846737, 10080184, 18283415, 16127465, 2703235, 12121354, 16892395, 9288098, 12900894, 18629880; Phenotypes: ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE, OMIM:200700, GDF5-related Symphalangism Spectrum Disorder, OMIM:185800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 GDF3 Achchuthan Shanmugasundram reviewed gene: GDF3: Rating: RED; Mode of pathogenicity: Other; Publications: 19864492, 29260090; Phenotypes: GDF3 multiple malformations, OMIM:613702; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GDF11 Achchuthan Shanmugasundram reviewed gene: GDF11: Rating: GREEN; Mode of pathogenicity: ; Publications: 31215115, 34113007; Phenotypes: GDF11-related vertebral hypersegmentation, orofacial anomalies and neurodevelopmental disorder., OMIM:619122; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GDF1 Achchuthan Shanmugasundram reviewed gene: GDF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32144877, 17924340, 20413652, 28991257, 33131162; Phenotypes: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6, OMIM:613854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GCSH Achchuthan Shanmugasundram reviewed gene: GCSH: Rating: GREEN; Mode of pathogenicity: ; Publications: 36190515; Phenotypes: GLYCINE ENCEPHALOPATHY, OMIM:605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GCH1 Achchuthan Shanmugasundram reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 12552057, 9667588, 7874165, 10208576, 17111153, 9576537, 7730309, 11359069, 10732814, 11486899, 10987649; Phenotypes: GTP CYCLOHYDROLASE 1 DEFICIENCY, OMIM:233910, DYSTONIA TYPE 5, OMIM:128230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 GCDH Achchuthan Shanmugasundram reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11174631, 8900228, 10699052, 7795610, 8900227; Phenotypes: GLUTARICACIDEMIA TYPE 1, OMIM:231670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GBE1 Achchuthan Shanmugasundram reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33897756, 32455116, 27546458, 30345254, 31747834, 32374048, 33782433, 30228975, 30311141, 30303820; Phenotypes: GBE1-associated Glycogen storage disease IV, OMIM:232500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GBA2 Achchuthan Shanmugasundram reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23332917; Phenotypes: AUTOSOMAL-RECESSIVE CEREBELLAR ATAXIA WITH SPASTICITY.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GBA Achchuthan Shanmugasundram reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GAUCHER DISEASE PERINATAL LETHAL, OMIM:608013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GATM Achchuthan Shanmugasundram reviewed gene: GATM: Rating: GREEN; Mode of pathogenicity: ; Publications: 10762163; Phenotypes: ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY, OMIM:612718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GATAD2B Achchuthan Shanmugasundram reviewed gene: GATAD2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 23644463, 31949314; Phenotypes: NONSPECIFIC SEVERE ID; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GATA6 Achchuthan Shanmugasundram reviewed gene: GATA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 20631719, 20581743, 8071961, 22158542; Phenotypes: PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS, OMIM:600001, ATRIOVENTRICULAR SEPTAL DEFECT 5, OMIM:614474, ATRIAL SEPTAL DEFECT 9, OMIM:614475; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GATA4 Achchuthan Shanmugasundram reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: ; Publications: 17643447, 18055909, 20659440, 12845333, 15810002, 20347099; Phenotypes: ATRIAL SEPTAL DEFECT TYPE 2, OMIM:607941; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GATA3 Achchuthan Shanmugasundram reviewed gene: GATA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 25510779, 15830275, 30396722, 29026277, 26268891, 23291697, 26316437, 21834031, 27387476, 19723756, 23203342, 29593425, 29073906, 29025137, 25771973, 21242646, 21157112, 21120445, 11389161, 23186964, 23052618, 16509533, 25124981, 31885872, 19952462, 26777049, 19248180, 24434941, 15705923, 26514990, 26800885, 28566604, 19253381, 30534854, 10935639, 21399899, 28303854, 17309062; Phenotypes: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE, OMIM:146255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GATA2 Achchuthan Shanmugasundram reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21670465, 2543925, 21892158, 24227816, 22996659, 20803646, 21242295; Phenotypes: EMBERGER SYNDROME, OMIM:614038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GAS8 Achchuthan Shanmugasundram reviewed gene: GAS8: Rating: GREEN; Mode of pathogenicity: ; Publications: 26387594; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GAS2L2 Achchuthan Shanmugasundram reviewed gene: GAS2L2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30665704; Phenotypes: Impaired Cilia Orientation and Mucociliary Clearance; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GAN Achchuthan Shanmugasundram reviewed gene: GAN: Rating: GREEN; Mode of pathogenicity: ; Publications: 11062483, 29876741, 20949505, 30246730, 19231187, 30532362; Phenotypes: Giant axonal neuropathy 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GAMT Achchuthan Shanmugasundram reviewed gene: GAMT: Rating: GREEN; Mode of pathogenicity: ; Publications: 8651275, 15651030, 17101918; Phenotypes: GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY, OMIM:612736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GALT Achchuthan Shanmugasundram reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: ; Publications: 9012409, 1610789, 2233247, 1897530, 10439960, 2011574, 8869397, 9222760; Phenotypes: GALACTOSEMIA, OMIM:230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GALNS Achchuthan Shanmugasundram reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MUCOPOLYSACCHARIDOSIS TYPE 4A, OMIM:253000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GALK1 Achchuthan Shanmugasundram reviewed gene: GALK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10521295, 10790206, 7670469, 11231902; Phenotypes: GALACTOSEMIA II, OMIM:230200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GALE Achchuthan Shanmugasundram reviewed gene: GALE: Rating: GREEN; Mode of pathogenicity: ; Publications: 9326324, 9538513, 9973283; Phenotypes: EPIMERASE-DEFICIENCY GALACTOSEMIA, OMIM:230350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GALC Achchuthan Shanmugasundram reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: ; Publications: 8297359, 20886637, 8786069, 21070211; Phenotypes: KRABBE DISEASE, OMIM:245200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GAD1 Achchuthan Shanmugasundram reviewed gene: GAD1: Rating: RED; Mode of pathogenicity: Other; Publications: 15571623; Phenotypes: CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 1, OMIM:603513; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 GABRG2 Achchuthan Shanmugasundram reviewed gene: GABRG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11326274; Phenotypes: EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3, OMIM:611277; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GABRG1 Achchuthan Shanmugasundram reviewed gene: GABRG1: Rating: RED; Mode of pathogenicity: Other; Publications: 36121006; Phenotypes: GABRG1-associated epileptic encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GABRB3 Achchuthan Shanmugasundram reviewed gene: GABRB3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 18514161, 27476654, 23934111; Phenotypes: CHILDHOOD ABSENCE EPILEPSY TYPE 5, OMIM:612269; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GABRB2 Achchuthan Shanmugasundram reviewed gene: GABRB2: 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 GABRA1 Achchuthan Shanmugasundram reviewed gene: GABRA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11992121, 23934111; Phenotypes: EPILEPTIC ENCEPHALOPATHY, JUVENILE MYOCLONIC EPILEPSY, OMIM:611136; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GABBR2 Achchuthan Shanmugasundram reviewed gene: GABBR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100083, 29369404, 26740508, 25262651, 28856709; Phenotypes: EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GABBR1 Achchuthan Shanmugasundram reviewed gene: GABBR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36103875; Phenotypes: GABBR1-associated neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 GAA Achchuthan Shanmugasundram reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: ; Publications: 9529346, 7881425, 15668445, 7945303, 7881422, 3865697, 1652892, 17616415, 1898413, 8834250; Phenotypes: GLYCOGEN STORAGE DISEASE TYPE II, OMIM:232300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FZR1 Achchuthan Shanmugasundram reviewed gene: FZR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31318984, 34788397; Phenotypes: FZR1-related intellectual disability and epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FZD6 Achchuthan Shanmugasundram reviewed gene: FZD6: Rating: GREEN; Mode of pathogenicity: ; Publications: 21665003; Phenotypes: NAIL DISORDER NON-SYNDROMIC CONGENITAL TYPE 10, OMIM:614157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FZD5 Achchuthan Shanmugasundram reviewed gene: FZD5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26908622; Phenotypes: Autosomal Dominant Coloboma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FYCO1 Achchuthan Shanmugasundram reviewed gene: FYCO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21636066, 11519376; Phenotypes: CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2, OMIM:610019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FXR1 Achchuthan Shanmugasundram reviewed gene: FXR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35393337, 30770808; Phenotypes: FXR1-related congenital myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FUT8 Achchuthan Shanmugasundram reviewed gene: FUT8: Rating: GREEN; Mode of pathogenicity: ; Publications: 29304374; Phenotypes: Congenital Disorder of Glycosylation with Defective Fucosylation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FUK Achchuthan Shanmugasundram reviewed gene: FUK: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30503518; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION, MONDO:0015286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FUCA1 Achchuthan Shanmugasundram reviewed gene: FUCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9762612, 2642067, 8401503, 2012122, 8097260, 1281988; Phenotypes: FUCOSIDOSIS, OMIM:230000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FTSJ1 Achchuthan Shanmugasundram reviewed gene: FTSJ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10398246, 15162322, 8288232; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 44, OMIM:309549; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 FTO Achchuthan Shanmugasundram reviewed gene: FTO: Rating: RED; Mode of pathogenicity: Other; Publications: 19559399; Phenotypes: GROWTH RETARDATION DEVELOPMENTAL DELAY COARSE FACIES AND EARLY DEATH, OMIM:612938; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FTL Achchuthan Shanmugasundram reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: ; Publications: 11849230, 9414313, 9414300, 19176363, 7493028, 9226182, 7669675, 12200611, 9292547, 10759702; Phenotypes: HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME, OMIM:600886; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FTCD Achchuthan Shanmugasundram reviewed gene: FTCD: Rating: GREEN; Mode of pathogenicity: ; Publications: 12815595; Phenotypes: GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, OMIM:229100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FRY Achchuthan Shanmugasundram reviewed gene: FRY: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FRRS1L Achchuthan Shanmugasundram reviewed gene: FRRS1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 27236917, 27239025; Phenotypes: Epileptic encephalopathy with continuous spike-and-wave during sleep; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FRMPD4 Achchuthan Shanmugasundram reviewed gene: FRMPD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25644381; Phenotypes: Intellectual Disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 FRMD7 Achchuthan Shanmugasundram reviewed gene: FRMD7: Rating: RED; Mode of pathogenicity: ; Publications: 17397053, 16240070, 17962394, 18087240, 19072571, 21746984, 17013395, 25678693; Phenotypes: NYSTAGMUS 1, CONGENITAL, X-LINKED, OMIM:310700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 FRMD5 Achchuthan Shanmugasundram reviewed gene: FRMD5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36206744; Phenotypes: FRMD5-related developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FREM2 Achchuthan Shanmugasundram reviewed gene: FREM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FRASER SYNDROME, OMIM:219000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FREM1 Achchuthan Shanmugasundram reviewed gene: FREM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11332973, 17352387; Phenotypes: MANITOBA OCULOTRICHOANAL SYNDROME, OMIM:248450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FRAS1 Achchuthan Shanmugasundram reviewed gene: FRAS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15838507, 12766769, 18671281, 17163535, 18203166, 16894541; Phenotypes: FRASER SYNDROME, OMIM:219000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FRA10AC1 Achchuthan Shanmugasundram reviewed gene: FRA10AC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35871492, 35821753, 34694367; Phenotypes: FRA10AC1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FOXRED1 Achchuthan Shanmugasundram reviewed gene: FOXRED1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20818383, 11181577, 17262856, 15824269, 9463323, 19185523, 11349233, 10944442, 12616398, 20858599, 20382551, 15159508, 21203893, 10080174, 16200211, 22499348, 10330338, 9837812, 23553477; Phenotypes: MITOCHONDRIAL COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FOXP4 Achchuthan Shanmugasundram reviewed gene: FOXP4: Rating: RED; Mode of pathogenicity: ; Publications: 33110267; Phenotypes: FOXP4-related Developmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FOXP3 Achchuthan Shanmugasundram reviewed gene: FOXP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 14671208, 11120765, 17635943, 11137993, 11137992; Phenotypes: IPEX SYNDROME, OMIM:304790; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 FOXP2 Achchuthan Shanmugasundram reviewed gene: FOXP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 2332125, 15877281; Phenotypes: SPEECH-LANGUAGE DISORDER 1, OMIM:602081; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FOXP1 Achchuthan Shanmugasundram reviewed gene: FOXP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24214399, 28884888, 30092897, 20950788, 28735298, 25853299, 29090079, 29330474; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES, OMIM:613670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FOXN1 Achchuthan Shanmugasundram reviewed gene: FOXN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8911612; Phenotypes: ALOPECIA AND T-CELL IMMUNODEFICIENCY, OMIM:601705; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FOXL2 Achchuthan Shanmugasundram reviewed gene: FOXL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12400065, 12938087, 11175783, 17089161, 12630957, 11468277, 11776388, 12567411, 12529855, 21325395; Phenotypes: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS SYNDROME, OMIM:110100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FOXJ1 Achchuthan Shanmugasundram reviewed gene: FOXJ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31630787; Phenotypes: Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FOXI3 Achchuthan Shanmugasundram reviewed gene: FOXI3: Rating: RED; Mode of pathogenicity: Other; Publications: 36260083; Phenotypes: FOXI3-related microtia and craniofacial microsomia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FOXG1 Achchuthan Shanmugasundram reviewed gene: FOXG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18571142, 21441262, 19564653, 19578037; Phenotypes: CONGENITAL VARIANT OF RETT SYNDROME, OMIM:613454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FOXF1 Achchuthan Shanmugasundram reviewed gene: FOXF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, OMIM:265380; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FOXE3 Achchuthan Shanmugasundram reviewed gene: FOXE3: Rating: GREEN; Mode of pathogenicity: ; Publications: 29136273, 20361012, 20140963, 6801987, 22204637, 3550563, 11159941, 16826526; Phenotypes: CONGENITAL PRIMARY APHAKIA, OMIM:610256, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, OMIM:107250; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 FOXE1 Achchuthan Shanmugasundram reviewed gene: FOXE1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: BAMFORTH-LAZARUS SYNDROME, OMIM:241850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FOXC2 Achchuthan Shanmugasundram reviewed gene: FOXC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11078474, 18197197, 15523639, 14269895, 11499682, 10417285, 12114478, 12485195, 11371511; Phenotypes: LYMPHEDEMA-DISTICHIASIS SYNDROME, OMIM:153400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FOXC1 Achchuthan Shanmugasundram reviewed gene: FOXC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9792859, 18498376, 9326342, 11170889, 9620769, 17210863, 10713890, 19793056, 11007653; Phenotypes: AXENFELD-RIEGER SYNDROME TYPE 3, OMIM:602482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FOLR1 Achchuthan Shanmugasundram reviewed gene: FOLR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 19732866; Phenotypes: NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY, OMIM:613068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FN1 Achchuthan Shanmugasundram reviewed gene: FN1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100092; Phenotypes: Spondylometaphyseal Dysplasia with Corner Fractures, OMIM:184255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FMR1 Achchuthan Shanmugasundram reviewed gene: FMR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FRAGILE X TREMOR/ATAXIA SYNDROME, OMIM:300623, PREMATURE OVARIAN FAILURE SYNDROME TYPE 1, OMIM:311360, FRAGILE X SYNDROME, OMIM:300624; 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 FMN2 Achchuthan Shanmugasundram reviewed gene: FMN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25480035; Phenotypes: NONSYNDROMIC AUTOSOMAL-RECESSIVE INTELLECTUAL DISABILITY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FLVCR2 Achchuthan Shanmugasundram reviewed gene: FLVCR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19635601, 20518025, 25677735, 20206334; Phenotypes: PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME, OMIM:225790; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FLVCR1 Achchuthan Shanmugasundram reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21070897, 21267618, 9409377, 30656474; Phenotypes: ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA, OMIM:609033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FLT4 Achchuthan Shanmugasundram reviewed gene: FLT4: Rating: GREEN; Mode of pathogenicity: ; Publications: 33067626, 10835628, 12960217, 16924388, 19289394, 16965327, 10856194; Phenotypes: CONGENITAL HEART DISEASE, MILROY DISEASE, OMIM:153100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FLNB Achchuthan Shanmugasundram reviewed gene: FLNB: Rating: GREEN; Mode of pathogenicity: ; Publications: 18257094, 16801345, 14991055, 18386804; Phenotypes: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, OMIM:272460, ATELOSTEOGENESIS TYPE 1, OMIM:108720, AUTOSOMAL DOMINANT LARSEN SYNDROME, OMIM:150250, ATELOSTEOGENESIS TYPE 3, OMIM:108721; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 FLNA Achchuthan Shanmugasundram reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: ; Publications: 23934111, 16596676, 8644737, 20301567, 11914408, 16299064, 11532987, 8290091, 9883725, 28498505, 10982965, 23032111, 17632775, 17431908, 23037936, 18854860, 15654694, 14988809, 15940695, 12612583, 20014127; Phenotypes: X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, OMIM:300048, MELNICK-NEEDLES SYNDROME, OMIM:309350, Otopalatodigital Syndrome, PERIVENTRICULAR NODULAR HETEROTOPIA TYPE 1, OMIM:300049, TERMINAL OSSEOUS DYSPLASIA, OMIM:300244, FRONTOMETAPHYSEAL DYSPLASIA, OMIM:305620, 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 FLG Achchuthan Shanmugasundram reviewed gene: FLG: Rating: RED; Mode of pathogenicity: ; Publications: 17291859, 16444271; Phenotypes: ICHTHYOSIS VULGARIS, OMIM:146700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FLAD1 Achchuthan Shanmugasundram reviewed gene: FLAD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27259049; Phenotypes: Riboflavin-Responsive and Non-responsive Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FKTN Achchuthan Shanmugasundram reviewed gene: FKTN: Rating: GREEN; Mode of pathogenicity: ; Publications: 21228398, 17044012, 17878207, 19179078, 12601708, 9690476, 17036286, 10545611, 19342235, 14627679; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C4, OMIM:611588; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FKRP Achchuthan Shanmugasundram reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: ; Publications: 11053680, 12654965, 15121789, 11592034, 14523375, 17336067, 11741828, 14647208, 14652796, 11071142, 12707439; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A5, OMIM:613153; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FKBP14 Achchuthan Shanmugasundram reviewed gene: FKBP14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, OMIM:614557; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FKBP10 Achchuthan Shanmugasundram reviewed gene: FKBP10: Rating: GREEN; Mode of pathogenicity: ; Publications: 20362275, 21567934, 35278031, 20839288; Phenotypes: BRUCK SYNDROME TYPE 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FIG4 Achchuthan Shanmugasundram reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: ; Publications: 17572665, 23623387, 7496176, 34899148, 30740813, 2319578; Phenotypes: CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA YUNIS-VARON SYNDROME, OMIM:216340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FHL1 Achchuthan Shanmugasundram reviewed gene: FHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35607917, 19716112, 19687455, 18179888; Phenotypes: EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED, OMIM:300696; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 FH Achchuthan Shanmugasundram reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: ; Publications: 8200987, 22069215; Phenotypes: FUMARASE DEFICIENCY, OMIM:606812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FGFR3 Achchuthan Shanmugasundram reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28483234, 8845844, 7493034, 7913883, 17033969, 16912704, 16501574, 7758520, 11055896, 19449430, 9452043, 7670477, 7773297, 10215410, 7647778, 16411219, 8078586, 8589686, 27139183; Phenotypes: THANATOPHORIC DYSPLASIA TYPE 2, OMIM:187601, CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME, OMIM:610474, MUENKE SYNDROME, OMIM:602849, HYPOCHONDROPLASIA, OMIM:146000, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, OMIM:612247, THANATOPHORIC DYSPLASIA TYPE 1, OMIM:187600, ACHONDROPLASIA, OMIM:100800, LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, OMIM:149730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FGFR2 Achchuthan Shanmugasundram reviewed gene: FGFR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 7719344, 9677057, 7987400, 7874170, 9973282, 8696350, 19610084, 15523492, 22038757, 7607643, 8528214, 7581378, 7655462, 17621648, 9002682, 9152842; Phenotypes: APERT SYNDROME, OMIM:101200, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OMIM:123790, JACKSON-WEISS SYNDROME, OMIM:123150, ANTLEY-BIXLER SYNDROME, OMIM:207410, CROUZON SYNDROME, OMIM:123500, LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, OMIM:149730, ACROCEPHALOSYNDACTYLY TYPE V, OMIM:101600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FGFR1 Achchuthan Shanmugasundram reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11807866, 15523615, 10394936, 7874169, 15625620, 26942290, 10690855, 7719345, 17235395, 8434615, 7422392, 16606836, 8841188, 23643382, 16882753, 17360555, 18596921, 23812909, 9150725, 16418210, 9002682, 12627230, 10945669, 9586546; Phenotypes: 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; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FGF9 Achchuthan Shanmugasundram reviewed gene: FGF9: Rating: GREEN; Mode of pathogenicity: ; Publications: 19589401; Phenotypes: MULTIPLE SYNOSTOSES SYNDROME TYPE 3, OMIM:612961; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FGF3 Achchuthan Shanmugasundram reviewed gene: FGF3: Rating: GREEN; Mode of pathogenicity: ; Publications: 18435799, 21480479, 17236138, 18701883; Phenotypes: DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA AND MICRODONTIA, OMIM:610706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FGF14 Achchuthan Shanmugasundram reviewed gene: FGF14: Rating: GREEN; Mode of pathogenicity: ; Publications: 30607796, 25566820, 21600715; Phenotypes: FGF14-related episodic ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FGF13 Achchuthan Shanmugasundram reviewed gene: FGF13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33245860; Phenotypes: FGF13-related neurodevelopmental disorder (X-linked dominant), FGF13-related neurodevelopmental disorder (hemizygous); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 FGF12 Achchuthan Shanmugasundram reviewed gene: FGF12: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27164707, 27872899, 27830185; Phenotypes: EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FGF10 Achchuthan Shanmugasundram reviewed gene: FGF10: Rating: GREEN; Mode of pathogenicity: ; Publications: 16501574, 16630169; Phenotypes: LADD SYNDROME, OMIM:149730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FGD1 Achchuthan Shanmugasundram reviewed gene: FGD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11093277, 14560308, 16688726, 20082460, 16353258, 7954831, 17152066, 17847065, 10930571, 15809997, 11940089; Phenotypes: AARSKOG-SCOTT SYNDROME, OMIM:305400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 FEZF1 Achchuthan Shanmugasundram reviewed gene: FEZF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25192046; Phenotypes: HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA, OMIM:616030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FEM1C Achchuthan Shanmugasundram reviewed gene: FEM1C: Rating: RED; Mode of pathogenicity: Other; Publications: 36336956; Phenotypes: FEM1C-related developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FDFT1 Achchuthan Shanmugasundram reviewed gene: FDFT1: Rating: RED; Mode of pathogenicity: ; Publications: 29909962; Phenotypes: Defect in Cholesterol Biosynthesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FBXW7 Achchuthan Shanmugasundram reviewed gene: FBXW7: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: FBXW7-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FBXW4 Achchuthan Shanmugasundram reviewed gene: FBXW4: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: SPLIT-HAND/FOOT MALFORMATION TYPE 3, OMIM:246560; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FBXW11 Achchuthan Shanmugasundram reviewed gene: FBXW11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31402090; Phenotypes: SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FBXO28 Achchuthan Shanmugasundram reviewed gene: FBXO28: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30160831, 33280099; Phenotypes: FBX028-related developmental and epileptic encephalopathy with profound intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FBXO11 Achchuthan Shanmugasundram reviewed gene: FBXO11: Rating: GREEN; Mode of pathogenicity: ; Publications: 27620904, 30057029, 30679813; Phenotypes: Variable Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FBXL4 Achchuthan Shanmugasundram reviewed gene: FBXL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23993194; Phenotypes: FATAL ENCEPHALOPATHY, LACTIC ACIDOSIS, AND SEVERE MTDNA DEPLETION IN MUSCLE; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FBP1 Achchuthan Shanmugasundram reviewed gene: FBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 7763253, 12126934; Phenotypes: FRUCTOSE 1,6 BISPHOSPHATASE DEFICIENCY, OMIM:229700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FBN2 Achchuthan Shanmugasundram reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9737771, 11281275, 20799338, 9106527, 9199560, 8900230, 10797416; Phenotypes: CONGENITAL CONTRACTURAL ARACHNODACTYLY, OMIM:121050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FBN1 Achchuthan Shanmugasundram reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 1852208, 1631074, 31950671, 17366579, 9241263, 7611299, 1569206, 1301946, 9101298, 11175294, 9837823, 15032979, 17492313, 7762551, 23103230, 23897642, 21594992, 8136837, 7633409, 15287423, 12525539, 8504310, 20979188, 10766875, 16333834, 8281141, 23023332, 11702223, 17568394, 20082464, 27582083, 8101042, 8071963, 7911051, 8040326, 21594993, 10441597, 18412115, 8428751, 8406497, 8430317; Phenotypes: WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328, MARFAN SYNDROME, OMIM:154700, SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212, Marfan Syndrome, biallelic, OMIM:154700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 FBLN1 Achchuthan Shanmugasundram reviewed gene: FBLN1: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, OMIM:608180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FAT4 Achchuthan Shanmugasundram reviewed gene: FAT4: Rating: GREEN; Mode of pathogenicity: ; Publications: 24056717; Phenotypes: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, OMIM:616006, VAN MALDERGEM SYNDROME, OMIM:615546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FASN Achchuthan Shanmugasundram reviewed gene: FASN: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FARS2 Achchuthan Shanmugasundram reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29326872, 27549011, 29126765, 28043061, 27095821; Phenotypes: Neurometabolic disorder due to FARS2 deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FAR1 Achchuthan Shanmugasundram reviewed gene: FAR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25439727; Phenotypes: SEVERE INTELLECTUAL DISABILITY, EPILEPSY, AND CATARACTS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FANCM Achchuthan Shanmugasundram reviewed gene: FANCM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FANCM-RELATED FANCONI ANEMIA, OMIM:287713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FANCL Achchuthan Shanmugasundram reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FANCONI ANEMIA, OMIM:229154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FANCI Achchuthan Shanmugasundram reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FANCONI ANEMIA, OMIM:229154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FANCG Achchuthan Shanmugasundram reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: ; Publications: 15657175, 10807541, 9806548, 12552564; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP G, OMIM:614082; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FANCF Achchuthan Shanmugasundram reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: ; Publications: 26033879, 10615118, 9382107; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP F, OMIM:603467; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FANCE Achchuthan Shanmugasundram reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: ; Publications: 10205272, 9382107, 11001585; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP E, OMIM:600901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FANCD2 Achchuthan Shanmugasundram reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11239453; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP D2, OMIM:227646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FANCC Achchuthan Shanmugasundram reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: ; Publications: 20869034, 8348157, 10431244; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP C, OMIM:227645; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FANCB Achchuthan Shanmugasundram reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: ; Publications: 16679491; Phenotypes: FANCB-RELATED FANCONI ANEMIA, OMIM:229139; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 FANCA Achchuthan Shanmugasundram reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: ; Publications: 12447395, 11344308, 12827451, 10431244, 8896564, 15523645; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP A, OMIM:227650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FAM58A Achchuthan Shanmugasundram reviewed gene: FAM58A: Rating: GREEN; Mode of pathogenicity: ; Publications: 18297069, 28322501, 8818947; Phenotypes: STAR SYNDROME, OMIM:300707; 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 FAM20C Achchuthan Shanmugasundram reviewed gene: FAM20C: Rating: GREEN; Mode of pathogenicity: ; Publications: 20825432, 17924334, 19250384; Phenotypes: RAINE SYNDROME, OMIM:259775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FAM20A Achchuthan Shanmugasundram reviewed gene: FAM20A: Rating: GREEN; Mode of pathogenicity: ; Publications: 21549343; Phenotypes: AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME, OMIM:204690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FAM161A Achchuthan Shanmugasundram reviewed gene: FAM161A: Rating: GREEN; Mode of pathogenicity: ; Publications: 10507729, 26574802, 20705279, 20705278; Phenotypes: RETINITIS PIGMENTOSA 28, OMIM:606068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FAM149B1 Achchuthan Shanmugasundram reviewed gene: FAM149B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30905400; Phenotypes: Ciliopathy-related syndromic intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FAM126A Achchuthan Shanmugasundram reviewed gene: FAM126A: Rating: GREEN; Mode of pathogenicity: ; Publications: 17928815, 16951682; Phenotypes: LEUKODYSTROPHY HYPOMYELINATING TYPE 5, OMIM:610532; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 FAM111A Achchuthan Shanmugasundram reviewed gene: FAM111A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23684011; Phenotypes: KENNY-CAFFEY SYNDROME, OMIM:127000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 FAH Achchuthan Shanmugasundram reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: ; Publications: 7977370, 8829657, 7757089, 1401056, 8364576, 8162054, 11196105, 8318997; Phenotypes: TYROSINEMIA TYPE 1, OMIM:276700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 EZH2 Achchuthan Shanmugasundram reviewed gene: EZH2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: WEAVER SYNDROME 2, OMIM:614421; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 EYA1 Achchuthan Shanmugasundram reviewed gene: EYA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9361030, 5365063, 16441263, 9020840, 10655545, 19206155; Phenotypes: BRANCHIOOTORENAL SYNDROME TYPE 1, OMIM:113650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 EXTL3 Achchuthan Shanmugasundram reviewed gene: EXTL3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28132690; Phenotypes: Neuro immuno skeletal Dysplasia Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 EXT2 Achchuthan Shanmugasundram reviewed gene: EXT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 9326317; Phenotypes: EXOSTOSES, MULTIPLE, TYPE 2, OMIM:133701; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 EXT1 Achchuthan Shanmugasundram reviewed gene: EXT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9326317, 7550340, 8981950, 15253765; Phenotypes: HEREDITARY MULTIPLE EXOSTOSES TYPE 1, OMIM:133700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 EXPH5 Achchuthan Shanmugasundram reviewed gene: EXPH5: Rating: GREEN; Mode of pathogenicity: ; Publications: 23176819; Phenotypes: INHERITED SKIN FRAGILITY, OMIM:615028; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 EXOSC9 Achchuthan Shanmugasundram reviewed gene: EXOSC9: Rating: GREEN; Mode of pathogenicity: ; Publications: 29727687; Phenotypes: Cerebellar Atrophy with Spinal Motor Neuronopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 EXOSC3 Achchuthan Shanmugasundram reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 34085948; Phenotypes: PONTOCEREBELLAR HYPOPLASIA TYPE 1, OMIM:607596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 EXOSC2 Achchuthan Shanmugasundram reviewed gene: EXOSC2: Rating: RED; Mode of pathogenicity: ; Publications: 36069504, 26843489; Phenotypes: EXOSC2-associated short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 EVC2 Achchuthan Shanmugasundram reviewed gene: EVC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16404586; Phenotypes: ACROFACIAL DYSOSTOSIS WEYERS TYPE, OMIM:193530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 EVC Achchuthan Shanmugasundram reviewed gene: EVC: Rating: GREEN; Mode of pathogenicity: ; Publications: 7628126, 21815252, 10700184, 14217223, 12468274, 7218275, 12571802; Phenotypes: ACROFACIAL DYSOSTOSIS WEYERS TYPE, OMIM:193530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ETHE1 Achchuthan Shanmugasundram reviewed gene: ETHE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18593870, 14732903, 20528888; Phenotypes: ETHYLMALONIC ENCEPHALOPATHY, OMIM:602473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ETFDH Achchuthan Shanmugasundram reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GLUTARIC ACIDURIA TYPE 2C, OMIM:231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ETFB Achchuthan Shanmugasundram reviewed gene: ETFB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GLUTARIC ACIDURIA TYPE 2B, OMIM:231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ETFA Achchuthan Shanmugasundram reviewed gene: ETFA: Rating: GREEN; Mode of pathogenicity: ; Publications: 17412732, 7912128, 12815589, 1882842, 1430199, 19249206; Phenotypes: GLUTARIC ACIDURIA TYPE 2A, OMIM:231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ESCO2 Achchuthan Shanmugasundram reviewed gene: ESCO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 3740099, 15821733, 495649; Phenotypes: ROBERTS SYNDROME, OMIM:268300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ERMARD Achchuthan Shanmugasundram reviewed gene: ERMARD: Rating: RED; Mode of pathogenicity: ; Publications: 24056535; Phenotypes: PERIVENTRICULAR HETEROTOPIA; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ERLIN2 Achchuthan Shanmugasundram reviewed gene: ERLIN2: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ERF Achchuthan Shanmugasundram reviewed gene: ERF: Rating: GREEN; Mode of pathogenicity: ; Publications: 23354439, 35852485, 27738187; Phenotypes: COMPLEX CRANIOSYNOSTOSIS, Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ERCC8 Achchuthan Shanmugasundram reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: ; Publications: 14661080, 15744458, 7664335; Phenotypes: COCKAYNE SYNDROME TYPE A, OMIM:216400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ERCC6L2 Achchuthan Shanmugasundram reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24507776; Phenotypes: BONE MARROW FAILURE SYNDROME 2, OMIM:615715; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ERCC6 Achchuthan Shanmugasundram reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: ; Publications: 20456449, 9443879, 7264357, 10739753, 18628313, 18446857, 10196384; Phenotypes: UV-SENSITIVE SYNDROME, OMIM:609413; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ERCC5 Achchuthan Shanmugasundram reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 11228268, 12060391, 7951246, 9096355, 23255472, 11841555, 11219864, 8818951; Phenotypes: XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G, OMIM:278780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ERCC4 Achchuthan Shanmugasundram reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 3372781, 23623389, 17183314, 23623386, 8797827; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP Q, OMIM:615272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ERCC3 Achchuthan Shanmugasundram reviewed gene: ERCC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 16947863, 4811796, 8408834; Phenotypes: XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B, OMIM:610651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ERCC2 Achchuthan Shanmugasundram reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 9012405, 11709541, 15220921, 9101292, 7849702, 7920640, 9195225, 8571952, 11443545, 7585650, 9758621; Phenotypes: CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2, OMIM:610756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ERCC1 Achchuthan Shanmugasundram reviewed gene: ERCC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23623389, 17273966; Phenotypes: CEREBROOCULOFACIOSKELETAL SYNDROME 4, OMIM:610758; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ERBB3 Achchuthan Shanmugasundram reviewed gene: ERBB3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17701904; Phenotypes: LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2, OMIM:607598, Hirschprung disease with intestinal pseudo-obstruction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 EPRS Achchuthan Shanmugasundram reviewed gene: EPRS: Rating: GREEN; Mode of pathogenicity: ; Publications: 29576217; Phenotypes: Hypomyelinating Leukodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 EPHB4 Achchuthan Shanmugasundram reviewed gene: EPHB4: Rating: RED; Mode of pathogenicity: ; Publications: 28687708, 29444212; Phenotypes: Capillary malformation-arteriovenous malformation 2, OMIM:618196; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 EPG5 Achchuthan Shanmugasundram reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: ; Publications: 23222957, 3344762; Phenotypes: IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM, OMIM:242840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 EPCAM Achchuthan Shanmugasundram reviewed gene: EPCAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 21315192, 24048167, 24142340, 18572020, 20034091, 26684320, 27875355, 19820410; Phenotypes: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, OMIM:613217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 EPB41L1 Achchuthan Shanmugasundram reviewed gene: EPB41L1: Rating: RED; Mode of pathogenicity: Other; Publications: 21376300; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 EP300 Achchuthan Shanmugasundram reviewed gene: EP300: Rating: GREEN; Mode of pathogenicity: ; Publications: 19353645, 17299436, 20014264, 15706485; Phenotypes: RUBINSTEIN-TAYBI SYNDROME TYPE 2, OMIM:613684; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 EOMES Achchuthan Shanmugasundram reviewed gene: EOMES: Rating: RED; Mode of pathogenicity: ; Publications: 17353897; Phenotypes: POLYMICROGYRIA AND CORPUS CALLOSUM AGENESIS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 EOGT Achchuthan Shanmugasundram reviewed gene: EOGT: Rating: GREEN; Mode of pathogenicity: ; Publications: 23522784; Phenotypes: ADAMS OLIVER SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ENTPD1 Achchuthan Shanmugasundram reviewed gene: ENTPD1: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ENPP1 Achchuthan Shanmugasundram reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20137773, 12881724, 15940697, 20137772, 11159191, 19206175, 22209248, 15605415; Phenotypes: Generalized Arterial Calcification of Infancy and Hypophosphataemic Rickets, OMIM:208000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 EMX2 Achchuthan Shanmugasundram reviewed gene: EMX2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: FAMILIAL SCHIZENCEPHALY, EMX2-RELATED, OMIM:269160; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 EMG1 Achchuthan Shanmugasundram reviewed gene: EMG1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26676230, 27798105, 19463982, 25708872; Phenotypes: Bowen-Conradi syndrome, OMIM:211180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 EMC10 Achchuthan Shanmugasundram reviewed gene: EMC10: Rating: GREEN; Mode of pathogenicity: ; Publications: 33531666; Phenotypes: EMC10-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 EMC1 Achchuthan Shanmugasundram reviewed gene: EMC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29271071, 26942288; Phenotypes: Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Biallelic, Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ELP2 Achchuthan Shanmugasundram reviewed gene: ELP2: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ELOVL4 Achchuthan Shanmugasundram reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 22100072; Phenotypes: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:614457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ELN Achchuthan Shanmugasundram reviewed gene: ELN: Rating: GREEN; Mode of pathogenicity: ; Publications: 8132745, 9215671, 8541862, 9215670, 21309044, 11735026, 10190324, 19844261, 11175284, 23442826, 10190538; Phenotypes: ELN-RELATED CUTIS LAXA, OMIM:314088; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 ELMO2 Achchuthan Shanmugasundram reviewed gene: ELMO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27476657; Phenotypes: Intraosseous Vascular Malformation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ELFN1 Achchuthan Shanmugasundram reviewed gene: ELFN1: Rating: RED; Mode of pathogenicity: ; Publications: 34509675; Phenotypes: ELFN1-related intellectual disability and epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ELAC2 Achchuthan Shanmugasundram reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23849775, 27769300; Phenotypes: INFANTILE HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ISOLATED COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 EIF5A Achchuthan Shanmugasundram reviewed gene: EIF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 33547280; Phenotypes: EIF5A-related craniofacial-neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 EIF4A3 Achchuthan Shanmugasundram reviewed gene: EIF4A3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24360810; Phenotypes: RICHIERI-COSTA-PEREIRA SYNDROME, OMIM:268305; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 EIF3F Achchuthan Shanmugasundram reviewed gene: EIF3F: Rating: GREEN; Mode of pathogenicity: ; Publications: 30409806; Phenotypes: EIF3F related developmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 EIF2S3 Achchuthan Shanmugasundram reviewed gene: EIF2S3: Rating: GREEN; Mode of pathogenicity: ; Publications: 23063529, 27333055; Phenotypes: Syndromic ID with severe microcephaly; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 EIF2B5 Achchuthan Shanmugasundram reviewed gene: EIF2B5: Rating: GREEN; Mode of pathogenicity: ; Publications: 28939701, 25457085, 25230711, 25089094, 25758335, 14572143, 15776425; Phenotypes: EIF2B5-RELATED LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, OMIM:603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 EIF2B4 Achchuthan Shanmugasundram reviewed gene: EIF2B4: Rating: GREEN; Mode of pathogenicity: ; Publications: 30073106, 26043506, 25089094, 31385086, 18539998, 14572143; Phenotypes: EIF2B4-RELATED LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, OMIM:603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 EIF2AK3 Achchuthan Shanmugasundram reviewed gene: EIF2AK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 7551159, 12960215, 16813601, 10932183; Phenotypes: WOLCOTT-RALLISON SYNDROME, OMIM:226980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 EIF2AK2 Achchuthan Shanmugasundram reviewed gene: EIF2AK2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32197074; Phenotypes: EIF2AK2-associated Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 EIF2AK1 Achchuthan Shanmugasundram reviewed gene: EIF2AK1: Rating: RED; Mode of pathogenicity: Other; Publications: 32197074; Phenotypes: EIF2AK1-associated Neurodevelopmental Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 EHMT1 Achchuthan Shanmugasundram reviewed gene: EHMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27123477, 23232695, 16826528, 28361100, 19264732, 28498556; Phenotypes: Kleefstra syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 EGR2 Achchuthan Shanmugasundram reviewed gene: EGR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, OMIM:605253; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 EFTUD2 Achchuthan Shanmugasundram reviewed gene: EFTUD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27670155, 23879989, 28643921, 23188108, 25387991, 25735261, 31413053, 30343593, 22305528, 23239648, 26507355, 24470203; Phenotypes: MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY, OMIM:610536; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 EFNB1 Achchuthan Shanmugasundram reviewed gene: EFNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15124102, 15166289, 16685650; Phenotypes: CRANIOFRONTONASAL SYNDROME, OMIM:304110; 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 EFEMP2 Achchuthan Shanmugasundram reviewed gene: EFEMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29362193, 17937443, 30140196, 19664000, 28673110, 16685658, 22440127, 24276535, 23212998; Phenotypes: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, OMIM:614437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 EEF2 Achchuthan Shanmugasundram reviewed gene: EEF2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: EEF2-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 EEF1B2 Achchuthan Shanmugasundram reviewed gene: EEF1B2: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 EEF1A2 Achchuthan Shanmugasundram reviewed gene: EEF1A2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32196822, 23647072; Phenotypes: INFANTILE EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 EED Achchuthan Shanmugasundram reviewed gene: EED: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27868325, 27193220, 25787343, 28475857; Phenotypes: Weaver-like overgrowth syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 EDNRB Achchuthan Shanmugasundram reviewed gene: EDNRB: Rating: GREEN; Mode of pathogenicity: ; Publications: 7778600; Phenotypes: ABCD SYNDROME, OMIM:600501; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 EDNRA Achchuthan Shanmugasundram reviewed gene: EDNRA: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25772936; Phenotypes: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, OMIM:616367; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 EDN1 Achchuthan Shanmugasundram reviewed gene: EDN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24268655; Phenotypes: QUESTION MARK EARS, ISOLATED, OMIM:612798, AURICULOCONDYLAR SYNDROME, OMIM:602483; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 EDEM3 Achchuthan Shanmugasundram reviewed gene: EDEM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 34143952; Phenotypes: EDEM3-related congenital disorder of glycosylation, OMIM:619493; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 EDAR Achchuthan Shanmugasundram reviewed gene: EDAR: Rating: GREEN; Mode of pathogenicity: ; Publications: 10431241, 16435307, 20979233; Phenotypes: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, OMIM:224900, ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 EDA Achchuthan Shanmugasundram reviewed gene: EDA: Rating: GREEN; Mode of pathogenicity: ; Publications: 9683615, 17066260, 16583127, 19921643, 12949972, 17256800, 19264582, 8696334, 18657636, 9507389, 9856856; Phenotypes: TOOTH AGENESIS SELECTIVE X-LINKED TYPE 1, OMIM:313500, ECTODERMAL DYSPLASIA TYPE 1, OMIM:305100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 ECM1 Achchuthan Shanmugasundram reviewed gene: ECM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25529926, 25465029, 28434238; Phenotypes: LIPOID PROTEINOSIS OF URBACH AND WIETHE, OMIM:247100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ECHS1 Achchuthan Shanmugasundram reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25125611, 29575569, 26000322, 35856138, 25393721; Phenotypes: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 ECEL1 Achchuthan Shanmugasundram reviewed gene: ECEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23261301; Phenotypes: DISTAL ARTHROGRYPOSIS TYPE 5D, OMIM:615065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 EBP Achchuthan Shanmugasundram reviewed gene: EBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 10942423, 10391218, 11038443, 10391219, 12503101; Phenotypes: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED, OMIM:302960; 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 EBF3 Achchuthan Shanmugasundram reviewed gene: EBF3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28017372, 28017370, 28017373; Phenotypes: Intellectual Disability, Ataxia, and Facial Dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 DYRK1A Achchuthan Shanmugasundram reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25641759, 28053047, 21294719, 31263215, 25707398, 25920557, 25944381, 23160955, 31803247, 26922654, 29034068, 23099646; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT TYPE 7, OMIM:614104; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 DYNC2LI1 Achchuthan Shanmugasundram reviewed gene: DYNC2LI1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26077881, 33030252, 26130459, 28857138; Phenotypes: DYNC2LI1-related short-rib polydactyly, OMIM:617088; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DYNC2H1 Achchuthan Shanmugasundram reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19442771, 19361615; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DYNC1I2 Achchuthan Shanmugasundram reviewed gene: DYNC1I2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31079899; Phenotypes: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES, OMIM:618492; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DYNC1H1 Achchuthan Shanmugasundram reviewed gene: DYNC1H1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28193117, 27066557, 28554554, 27331017, 30122514, 22459677, 25609763, 25484024, 29306600, 24307404, 22368300; Phenotypes: SEVERE ID WITH NEURONAL MIGRATION DISORDER, OMIM:600112, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD, OMIM:158600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 DYM Achchuthan Shanmugasundram reviewed gene: DYM: Rating: GREEN; Mode of pathogenicity: ; Publications: 16097008, 19005420, 12554689, 12491225; Phenotypes: DYGGVE-MELCHIOR-CLAUSEN SYNDROME/SMITH-MCCORT DYSPLASIA, OMIM:223800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DVL3 Achchuthan Shanmugasundram reviewed gene: DVL3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26924530; Phenotypes: AUTOSOMAL-DOMINANT ROBINOW SYNDROME, OMIM:616331; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 DVL1 Achchuthan Shanmugasundram reviewed gene: DVL1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25817016; Phenotypes: AUTOSOMAL-DOMINANT ROBINOW SYNDROME, OMIM:616331; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 DSTYK Achchuthan Shanmugasundram reviewed gene: DSTYK: Rating: GREEN; Mode of pathogenicity: ; Publications: 23862974, 28157540; Phenotypes: Autosomal Recessive Complicated Spastic Paraparesis SPG23, CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1, OMIM:610805; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 DSPP Achchuthan Shanmugasundram reviewed gene: DSPP: Rating: GREEN; Mode of pathogenicity: ; Publications: 18456718, 11175779, 11175790, 14758537; Phenotypes: DEAFNESS AUTOSOMAL DOMINANT TYPE 39 WITH DENTINOGENESIS IMPERFECTA 1, OMIM:605594, DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II, OMIM:125490; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 DSP Achchuthan Shanmugasundram reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: DSP-related developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 DSG1 Achchuthan Shanmugasundram reviewed gene: DSG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23974871; Phenotypes: SEVERE DERMATITIS, MULTIPLE ALLERGIES AND METABOLIC WASTING, OMIM:615508; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DSE Achchuthan Shanmugasundram reviewed gene: DSE: Rating: RED; Mode of pathogenicity: Other; Publications: 23704329; Phenotypes: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, OMIM:615539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DRC1 Achchuthan Shanmugasundram reviewed gene: DRC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23354437; Phenotypes: PRIMARY CILARY DYSKINESIA, OMIM:244400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DPYSL5 Achchuthan Shanmugasundram reviewed gene: DPYSL5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33894126; Phenotypes: DPYSL5-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 DPM3 Achchuthan Shanmugasundram reviewed gene: DPM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19576565, 35932216; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1O, OMIM:612937; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DPM1 Achchuthan Shanmugasundram reviewed gene: DPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10642597, 10642602; Phenotypes: CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DPH5 Achchuthan Shanmugasundram reviewed gene: DPH5: Rating: GREEN; Mode of pathogenicity: ; Publications: 35482014; Phenotypes: DPH5-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DPF2 Achchuthan Shanmugasundram reviewed gene: DPF2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29429572, 35607970; Phenotypes: Coffin Siris like disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 DPAGT1 Achchuthan Shanmugasundram reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22742743; Phenotypes: DPAGT1-CDG, OMIM:300129, MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2, OMIM:614750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DOLK Achchuthan Shanmugasundram reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22242004, 17273964; Phenotypes: CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DOHH Achchuthan Shanmugasundram reviewed gene: DOHH: Rating: GREEN; Mode of pathogenicity: ; Publications: 35858628; Phenotypes: DOHH-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DOCK8 Achchuthan Shanmugasundram reviewed gene: DOCK8: Rating: GREEN; Mode of pathogenicity: ; Publications: 19776401; Phenotypes: HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME AUTOSOMAL RECESSIVE, OMIM:243700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DOCK7 Achchuthan Shanmugasundram reviewed gene: DOCK7: Rating: GREEN; Mode of pathogenicity: ; Publications: 24814191; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23, OMIM:615859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DOCK6 Achchuthan Shanmugasundram reviewed gene: DOCK6: Rating: GREEN; Mode of pathogenicity: ; Publications: 21820096; Phenotypes: ADAMS-OLIVER SYNDROME 2, OMIM:614219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DNMT3B Achchuthan Shanmugasundram reviewed gene: DNMT3B: Rating: GREEN; Mode of pathogenicity: ; Publications: 12239717, 10555141, 10647011; Phenotypes: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, OMIM:242860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DNMT3A Achchuthan Shanmugasundram reviewed gene: DNMT3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 24614070, 29900417, 28475857; Phenotypes: Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY), Microcephalic primordial dwarfism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 DNM1L Achchuthan Shanmugasundram reviewed gene: DNM1L: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26604000, 26992161, 30850373, 27328748, 30939602, 29877124, 31475481, 30801875, 31587467; Phenotypes: DNM1L-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 DNM1 Achchuthan Shanmugasundram reviewed gene: DNM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36413998, 34172529, 25262651; Phenotypes: DNM1-associated microcephaly, developmental and epileptic encephalopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 DNAJC12 Achchuthan Shanmugasundram reviewed gene: DNAJC12: Rating: GREEN; Mode of pathogenicity: ; Publications: 28132689; Phenotypes: Hyperphenylalaninemia, Dystonia, and Intellectual Disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DNAJB4 Achchuthan Shanmugasundram reviewed gene: DNAJB4: Rating: RED; Mode of pathogenicity: ; Publications: 36264506; Phenotypes: DNAJB4-related myopathy with early respiratory failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DNAJB13 Achchuthan Shanmugasundram reviewed gene: DNAJB13: Rating: RED; Mode of pathogenicity: ; Publications: 27486783; Phenotypes: Primary Ciliary Dyskinesia and Male Infertility; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DNAH9 Achchuthan Shanmugasundram reviewed gene: DNAH9: Rating: GREEN; Mode of pathogenicity: ; Publications: 30471718, 30471717; Phenotypes: Motile Cilia Defects and Situs Inversus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DNAH5 Achchuthan Shanmugasundram reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: ; Publications: 27637300; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 3, OMIM:608644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DNAH14 Achchuthan Shanmugasundram reviewed gene: DNAH14: Rating: RED; Mode of pathogenicity: ; Publications: 35438214; Phenotypes: DNAH14-related Neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DNAAF5 Achchuthan Shanmugasundram reviewed gene: DNAAF5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23040496; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 18, OMIM:614874; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DNAAF4 Achchuthan Shanmugasundram reviewed gene: DNAAF4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23872636; Phenotypes: PRIMARY CILIARY DYSPLASIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DNAAF3 Achchuthan Shanmugasundram reviewed gene: DNAAF3: Rating: GREEN; Mode of pathogenicity: ; Publications: 22387996, 10745040; Phenotypes: PRIMARY CILIARY DYSKINEASIA, OMIM:606763; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DNA2 Achchuthan Shanmugasundram reviewed gene: DNA2: Rating: RED; Mode of pathogenicity: ; Publications: 24389050; Phenotypes: PRIMORDIAL DWARFISM SECKEL SYNDROME 8, OMIM:615807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DMPK Achchuthan Shanmugasundram reviewed gene: DMPK: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: DYSTROPHIA MYOTONICA TYPE 1, OMIM:160900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 DMP1 Achchuthan Shanmugasundram reviewed gene: DMP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17033621, 17033625; Phenotypes: HYPOPHOSPHATEMIC RICKETS, AR, OMIM:241520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DMD Achchuthan Shanmugasundram reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: ; Publications: 15643612, 7581396, 10909857, 7881286, 7981590, 17024373, 8361506, 8279470, 1513469, 1757094, 8199594, 8281150, 8301652, 12673664, 8401539, 12754707, 12632325, 8499922, 1301174, 12794683, 8817332, 1549596, 12522557, 1383546, 8401582, 1601417, 8364587, 2071150, 8789442, 1632439, 9683584, 9410897, 8401537, 7951253, 9170407, 1307253; Phenotypes: DUCHENNE MUSCULAR DYSTROPHY, OMIM:310200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 DLX5 Achchuthan Shanmugasundram reviewed gene: DLX5: Rating: RED; Mode of pathogenicity: Other; Publications: 22121204; Phenotypes: SPLIT HAND AND FOOT MALFORMATION, OMIM:220600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DLL4 Achchuthan Shanmugasundram reviewed gene: DLL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 26299364; Phenotypes: ADAMS-OLIVER SYNDROME 6, OMIM:616589; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 DLL3 Achchuthan Shanmugasundram reviewed gene: DLL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 12791036, 2805381, 10742114; Phenotypes: SPONDYLOCOSTAL DYSOSTOSIS TYPE 1, OMIM:277300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DLL1 Achchuthan Shanmugasundram reviewed gene: DLL1: Rating: RED; Mode of pathogenicity: ; Publications: 31353024; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 DLG5 Achchuthan Shanmugasundram reviewed gene: DLG5: Rating: RED; Mode of pathogenicity: ; Publications: 32631816; Phenotypes: DLG5-associated developmental disorder (biallelic), DLG5-associated developmental disorder (monoallelic); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 DLG4 Achchuthan Shanmugasundram reviewed gene: DLG4: Rating: GREEN; Mode of pathogenicity: ; Publications: 27479843; Phenotypes: DLG4 related intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 DLG3 Achchuthan Shanmugasundram reviewed gene: DLG3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 90, OMIM:300850; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 DLD Achchuthan Shanmugasundram reviewed gene: DLD: Rating: GREEN; Mode of pathogenicity: ; Publications: 23290025, 8968745; Phenotypes: DIHYDROLIPOAMIDE DEHYDROGENASE (E3) DEFICIENCY, OMIM:248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DLAT Achchuthan Shanmugasundram reviewed gene: DLAT: Rating: GREEN; Mode of pathogenicity: ; Publications: 16049940; Phenotypes: PYRUVATE DEHYDROGENASE E2 DEFICIENCY, OMIM:245348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DKC1 Achchuthan Shanmugasundram reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: DKC1-RELATED DYSKERATOSIS CONGENITA, OMIM:314912; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 DISP1 Achchuthan Shanmugasundram reviewed gene: DISP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: HOLOPROSENCEPHALY, OMIM:609637; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 DIS3L2 Achchuthan Shanmugasundram reviewed gene: DIS3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: 6093533, 10508986, 22306653; Phenotypes: PERLMAN SYNDROME, OMIM:267000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DIP2B Achchuthan Shanmugasundram reviewed gene: DIP2B: Rating: RED; Mode of pathogenicity: Other; Publications: 17236128; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, FRA12A TYPE, OMIM:136630; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 DHX37 Achchuthan Shanmugasundram reviewed gene: DHX37: Rating: RED; Mode of pathogenicity: Other; Publications: 31256877; Phenotypes: Intellectual Disability and Central Nervous System anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DHX34 Achchuthan Shanmugasundram reviewed gene: DHX34: Rating: RED; Mode of pathogenicity: Other; Publications: 31256877; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DHX30 Achchuthan Shanmugasundram reviewed gene: DHX30: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100085; Phenotypes: Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 DHX16 Achchuthan Shanmugasundram reviewed gene: DHX16: Rating: RED; Mode of pathogenicity: Other; Publications: 31256877; Phenotypes: Intellectual Disability, Central Nervous System anomalies and Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 DHTKD1 Achchuthan Shanmugasundram reviewed gene: DHTKD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23141293; Phenotypes: 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA, OMIM:204750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DHRS3 Achchuthan Shanmugasundram reviewed gene: DHRS3: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: DHRS3 related craniosynostosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DHPS Achchuthan Shanmugasundram reviewed gene: DHPS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30661771; Phenotypes: Neurodevelopmental Disorder of Hypusination; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DHODH Achchuthan Shanmugasundram reviewed gene: DHODH: Rating: GREEN; Mode of pathogenicity: ; Publications: 19915526; Phenotypes: POSTAXIAL ACROFACIAL DYSOSTOSIS, OMIM:263750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DHFR Achchuthan Shanmugasundram reviewed gene: DHFR: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21310277, 21310276; Phenotypes: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, OMIM:613839; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DHDDS Achchuthan Shanmugasundram reviewed gene: DHDDS: 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 DHCR7 Achchuthan Shanmugasundram reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: ; Publications: 20635399, 10677299, 11175299, 16044199, 15952211, 12949967, 9653161, 12794707, 11857552, 10814720, 26969503, 9634533, 9714007, 9683613; Phenotypes: SMITH-LEMLI-OPITZ SYNDROME, OMIM:270400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DHCR24 Achchuthan Shanmugasundram reviewed gene: DHCR24: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: DESMOSTEROLOSIS, OMIM:602398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DGAT1 Achchuthan Shanmugasundram reviewed gene: DGAT1: Rating: RED; Mode of pathogenicity: ; Publications: 23114594; Phenotypes: CONGENITAL DIARRHEAL DISORDERS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DEPDC5 Achchuthan Shanmugasundram reviewed gene: DEPDC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 10577924, 23542701, 14510823, 9851433, 15329069, 10825362; Phenotypes: FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI, OMIM:604364; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 DENND5A Achchuthan Shanmugasundram reviewed gene: DENND5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 27866705; Phenotypes: EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DEGS1 Achchuthan Shanmugasundram reviewed gene: DEGS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30620337, 31186544; Phenotypes: LEUKODYSTROPHY, HYPOMYELINATING, 18, OMIM:618404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DEAF1 Achchuthan Shanmugasundram reviewed gene: DEAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26048982, 24726472, 26834045, 21076407; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 24, OMIM:615828, Autism, intellectual disability, basal ganglia dysfunction and epilepsy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 DDX6 Achchuthan Shanmugasundram reviewed gene: DDX6: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31422817; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 DDX59 Achchuthan Shanmugasundram reviewed gene: DDX59: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23972372; Phenotypes: OROFACIODIGITAL SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DDX58 Achchuthan Shanmugasundram reviewed gene: DDX58: Rating: RED; Mode of pathogenicity: Other; Publications: 25620203; Phenotypes: SINGLETON-MERTEN SYNDROME, OMIM:182250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 DDX54 Achchuthan Shanmugasundram reviewed gene: DDX54: Rating: RED; Mode of pathogenicity: Other; Publications: 31256877; Phenotypes: Intellectual Disability and Central Nervous System anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DDX3X Achchuthan Shanmugasundram reviewed gene: DDX3X: Rating: GREEN; Mode of pathogenicity: ; Publications: 25533962, 30734472, 28371085, 30349862, 29490693, 26235985; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 102, OMIM:300958, INTELLECTUAL DISABILITY; 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 DDX23 Achchuthan Shanmugasundram reviewed gene: DDX23: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: DDX23-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 DDX11 Achchuthan Shanmugasundram reviewed gene: DDX11: Rating: GREEN; Mode of pathogenicity: ; Publications: 20137776, 23033317; Phenotypes: WARSAW BREAKAGE SYNDROME, OMIM:613398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DDR2 Achchuthan Shanmugasundram reviewed gene: DDR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19110212, 8434618; Phenotypes: SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE, OMIM:271665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DDOST Achchuthan Shanmugasundram reviewed gene: DDOST: Rating: GREEN; Mode of pathogenicity: ; Publications: 22305527; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, OMIM:614507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DDHD2 Achchuthan Shanmugasundram reviewed gene: DDHD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23176823; Phenotypes: COMPLEX HEREDITARY SPASTIC PARAPLEGIA, OMIM:615033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DDHD1 Achchuthan Shanmugasundram reviewed gene: DDHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23176821, 15786464; Phenotypes: HEREDITARY SPASTIC PARAPLEGIA, OMIM:615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DDC Achchuthan Shanmugasundram reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: ; Publications: 20505134; Phenotypes: AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY, OMIM:608643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DDB2 Achchuthan Shanmugasundram reviewed gene: DDB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10469312, 8798680, 12812979; Phenotypes: XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE, OMIM:278740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DDB1 Achchuthan Shanmugasundram reviewed gene: DDB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33743206; Phenotypes: DDB1-associated neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 DCX Achchuthan Shanmugasundram reviewed gene: DCX: Rating: GREEN; Mode of pathogenicity: ; Publications: 10441340, 9489700, 9489699, 12552055, 11468322; Phenotypes: SUBCORTICAL BAND HETEROTOPIA X-LINKED, OMIM:300067, LISSENCEPHALY X-LINKED TYPE 1, OMIM:300067; 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 DCHS1 Achchuthan Shanmugasundram reviewed gene: DCHS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24056717; Phenotypes: PERIVENTRICULAR NEURONAL HETEROTOPIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DCDC2 Achchuthan Shanmugasundram reviewed gene: DCDC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25557784; Phenotypes: RENAL-HEPATIC CILIOPATHY, OMIM:616217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DCC Achchuthan Shanmugasundram reviewed gene: DCC: Rating: GREEN; Mode of pathogenicity: ; Publications: 28250456; Phenotypes: Midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DCAF17 Achchuthan Shanmugasundram reviewed gene: DCAF17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: WOODHOUSE-SAKATI SYNDROME, OMIM:241080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DBT Achchuthan Shanmugasundram reviewed gene: DBT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MAPLE SYRUP URINE DISEASE, OMIM:248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DAW1 Achchuthan Shanmugasundram reviewed gene: DAW1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36074124; Phenotypes: DAW1-associated ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DARS2 Achchuthan Shanmugasundram reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17384640; Phenotypes: LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, OMIM:611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DARS Achchuthan Shanmugasundram reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23643384; Phenotypes: HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY., OMIM:615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DAG1 Achchuthan Shanmugasundram reviewed gene: DAG1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21388311; Phenotypes: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7, OMIM:613818; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DACT1 Achchuthan Shanmugasundram reviewed gene: DACT1: Rating: RED; Mode of pathogenicity: Other; Publications: 22610794, 36066768, 28054444; Phenotypes: Multiple malformations of neural tube, ear, genitourinary and gastrointestinal systems; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 D2HGDH Achchuthan Shanmugasundram reviewed gene: D2HGDH: Rating: RED; Mode of pathogenicity: ; Publications: 15609246; Phenotypes: D-2-HYDROXYGLUTARIC ACIDURIA 1, OMIM:600721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CYP2U1 Achchuthan Shanmugasundram reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23176821; Phenotypes: HEREDITARY SPASTIC PARAPLEGIA, OMIM:615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CYP27A1 Achchuthan Shanmugasundram reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 2019602, 16278884; Phenotypes: Cerebrotendinous xanthomatosis, OMIM:213700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CYP24A1 Achchuthan Shanmugasundram reviewed gene: CYP24A1: Rating: RED; Mode of pathogenicity: ; Publications: 27394135; Phenotypes: Hereditary 1,25-dihydroxyvitamin D-resistant rickets; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CYP1B1 Achchuthan Shanmugasundram reviewed gene: CYP1B1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 9463332, 19643970, 15342693, 19807744, 9497261, 10227395, 9097971, 27777502, 12372064; Phenotypes: PRIMARY CONGENITAL GLAUCOMA TYPE 3A, OMIM:231300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CYFIP2 Achchuthan Shanmugasundram reviewed gene: CYFIP2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29534297, 31689829, 30664714, 29667327; Phenotypes: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, OMIM:618468; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CYC1 Achchuthan Shanmugasundram reviewed gene: CYC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23910460; Phenotypes: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, OMIM:615453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CYB5R3 Achchuthan Shanmugasundram reviewed gene: CYB5R3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE, OMIM:250800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CWC27 Achchuthan Shanmugasundram reviewed gene: CWC27: Rating: GREEN; Mode of pathogenicity: ; Publications: 36718996, 28285769; Phenotypes: Retinitis pigmentosa, skeletal anomalies and intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CUX2 Achchuthan Shanmugasundram reviewed gene: CUX2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29630738; Phenotypes: Developmental epileptic encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CUX1 Achchuthan Shanmugasundram reviewed gene: CUX1: Rating: RED; Mode of pathogenicity: ; Publications: 30014507; Phenotypes: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CUL7 Achchuthan Shanmugasundram reviewed gene: CUL7: Rating: GREEN; Mode of pathogenicity: ; Publications: 19225462, 17675530, 16142236; Phenotypes: 3-M SYNDROME 1, OMIM:273750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CUL4B Achchuthan Shanmugasundram reviewed gene: CUL4B: Rating: GREEN; Mode of pathogenicity: ; Publications: 17236139; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROMIC X-LINKED CABEZAS TYPE, OMIM:300354; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 CUL3 Achchuthan Shanmugasundram reviewed gene: CUL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 32341456, 31696658, 33097317, 27824329; Phenotypes: CUL3-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CTU2 Achchuthan Shanmugasundram reviewed gene: CTU2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31301155; Phenotypes: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME, OMIM:618142; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CTSK Achchuthan Shanmugasundram reviewed gene: CTSK: Rating: GREEN; Mode of pathogenicity: ; Publications: 10491211, 10878663, 8703060; Phenotypes: PYCNODYSOSTOSIS, OMIM:265800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CTSD Achchuthan Shanmugasundram reviewed gene: CTSD: Rating: GREEN; Mode of pathogenicity: ; Publications: 16685649, 16670177; Phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 10, OMIM:610127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CTSA Achchuthan Shanmugasundram reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: ; Publications: 8968752, 9603439, 10944848, 1756715, 8514852; Phenotypes: GALACTOSIALIDOSIS, OMIM:256540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CTNS Achchuthan Shanmugasundram reviewed gene: CTNS: Rating: GREEN; Mode of pathogenicity: ; Publications: 10673275, 11565547, 10625078, 9792862, 12442267, 11505338, 10556299, 9537412, 10444339, 19863563; Phenotypes: CYSTINOSIS NEPHROPATHIC TYPE, OMIM:219800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CTNND2 Achchuthan Shanmugasundram reviewed gene: CTNND2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25807484, 25839933; Phenotypes: CTNND2-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CTNND1 Achchuthan Shanmugasundram reviewed gene: CTNND1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32196547, 29348693, 28301459; Phenotypes: Blepharo-cheiro-dontic syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CTNNB1 Achchuthan Shanmugasundram reviewed gene: CTNNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35880249, 30929091, 28514307, 24614104, 27915094, 26968164, 25326669; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 19, OMIM:615075; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CTNNA2 Achchuthan Shanmugasundram reviewed gene: CTNNA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30013181; Phenotypes: Disordered cortical neuronal migration; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CTDP1 Achchuthan Shanmugasundram reviewed gene: CTDP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 14517542; Phenotypes: CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME, OMIM:604168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CTCF Achchuthan Shanmugasundram reviewed gene: CTCF: Rating: GREEN; Mode of pathogenicity: ; Publications: 23746550; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CTC1 Achchuthan Shanmugasundram reviewed gene: CTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22267198, 22387016; Phenotypes: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS, OMIM:612199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CTBP1 Achchuthan Shanmugasundram reviewed gene: CTBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CTBP1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CSTB Achchuthan Shanmugasundram reviewed gene: CSTB: Rating: GREEN; Mode of pathogenicity: ; Publications: 9012407, 8596935, 9342192, 15329070; Phenotypes: UNVERRICHT-LUNDBORG DISEASE, OMIM:254800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CSTA Achchuthan Shanmugasundram reviewed gene: CSTA: Rating: GREEN; Mode of pathogenicity: ; Publications: 21944047; Phenotypes: EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE, OMIM:607936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CSPP1 Achchuthan Shanmugasundram reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24360808; Phenotypes: JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CSNK2B Achchuthan Shanmugasundram reviewed gene: CSNK2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CSNK2B-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CSNK2A1 Achchuthan Shanmugasundram reviewed gene: CSNK2A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: CSNK2A1 syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CSNK1G1 Achchuthan Shanmugasundram reviewed gene: CSNK1G1: Rating: RED; Mode of pathogenicity: Other; Publications: 24463883; Phenotypes: EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY AND MICROCEPHALY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CSF1R Achchuthan Shanmugasundram reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: ; Publications: 30982609, 30982608; Phenotypes: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS, OMIM:618476; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CSDE1 Achchuthan Shanmugasundram reviewed gene: CSDE1: Rating: RED; Mode of pathogenicity: ; Publications: 33867523, 31579823; Phenotypes: CSDE1-associated intellectual disability and autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CRYGD Achchuthan Shanmugasundram reviewed gene: CRYGD: Rating: RED; Mode of pathogenicity: ; Publications: 9927684, 17564961, 12011157, 10915766, 10521291; Phenotypes: Cataract 2, multiple types, OMIM:115700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CRYGC Achchuthan Shanmugasundram reviewed gene: CRYGC: Rating: GREEN; Mode of pathogenicity: ; Publications: 10521291, 10914683, 12011157; Phenotypes: Cataract 2, multiple types, OMIM:604219; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CRYBB3 Achchuthan Shanmugasundram reviewed gene: CRYBB3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15914629; Phenotypes: CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2, OMIM:609741; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CRYBB2 Achchuthan Shanmugasundram reviewed gene: CRYBB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 8812489, 11424921; Phenotypes: CATARACT, CONGENITAL, CERULEAN TYPE, 2, OMIM:601547, CATARACT, COPPOCK-LIKE, OMIM:604307; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CRYBB1 Achchuthan Shanmugasundram reviewed gene: CRYBB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17460281, 12360425; Phenotypes: CATARACT 17, MULTIPLE TYPES, OMIM:611544, CATARACT 17, MULTIPLE TYPES, MONOALLELIC, OMIM:611544; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 CRYBA4 Achchuthan Shanmugasundram reviewed gene: CRYBA4: Rating: RED; Mode of pathogenicity: Other; Publications: 16960806, 15452067, 20577656; Phenotypes: MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4, OMIM:610426; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CRYBA1 Achchuthan Shanmugasundram reviewed gene: CRYBA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 14598164; Phenotypes: CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES, OMIM:600881; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CRYAB Achchuthan Shanmugasundram reviewed gene: CRYAB: Rating: RED; Mode of pathogenicity: ; Publications: 11577372, 21337604; Phenotypes: MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED, OMIM:613869, CATARACT POSTERIOR POLAR TYPE 2, OMIM:613763; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 CRYAA Achchuthan Shanmugasundram reviewed gene: CRYAA: Rating: GREEN; Mode of pathogenicity: ; Publications: 11006246, 19182255; Phenotypes: CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1, OMIM:604219, CATARACT, NUCLEAR, OMIM:123580; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 CRX Achchuthan Shanmugasundram reviewed gene: CRX: Rating: GREEN; Mode of pathogenicity: ; Publications: 9792858, 9390563, 15531334, 17320181, 25270190, 9537410, 9427255, 9931337, 12208271; Phenotypes: CRX-RELATED LEBER CONGENITAL AMAUROSIS LEBER CONGENITAL AMAUROSIS 7, OMIM:613829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CRLS1 Achchuthan Shanmugasundram reviewed gene: CRLS1: Rating: RED; Mode of pathogenicity: Other; Publications: 35147173; Phenotypes: CRLS1-related mitochondrial disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CRKL Achchuthan Shanmugasundram reviewed gene: CRKL: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: Bladder exstrophy plus; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CRIPT Achchuthan Shanmugasundram reviewed gene: CRIPT: Rating: RED; Mode of pathogenicity: ; Publications: 24389050; Phenotypes: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, OMIM:615789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CRIM1 Achchuthan Shanmugasundram reviewed gene: CRIM1: Rating: RED; Mode of pathogenicity: ; Publications: 25561690; Phenotypes: Colobomatous macrophthalmia with microcornea syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CRELD1 Achchuthan Shanmugasundram reviewed gene: CRELD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: HETEROTAXY SYNDROME, OMIM:207574; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CREBBP Achchuthan Shanmugasundram reviewed gene: CREBBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 12114483, 12566391, 30737887, 20684013, 29460469, 27311832, 7630403, 11331617; Phenotypes: RUBINSTEIN-TAYBI SYNDROME TYPE 1, OMIM:180849; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CRBN Achchuthan Shanmugasundram reviewed gene: CRBN: Rating: RED; Mode of pathogenicity: ; Publications: 18414909; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 2A, OMIM:607417; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CRB2 Achchuthan Shanmugasundram reviewed gene: CRB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25557780; Phenotypes: VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, OMIM:219730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CRB1 Achchuthan Shanmugasundram reviewed gene: CRB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16543197, 19140180, 11231775, 11389483, 10508521; Phenotypes: CRB1-related Leber Congenital Amaurosis and Retinitis Pigmentosa, OMIM:613835; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CRADD Achchuthan Shanmugasundram reviewed gene: CRADD: Rating: RED; Mode of pathogenicity: Other; Publications: 27773430, 22279524; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, autosomal recessive 34, with variant lissencephaly, OMIM:614499; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CPSF3 Achchuthan Shanmugasundram reviewed gene: CPSF3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35121750; Phenotypes: CPSF3-associated neurodevelopmental disorder with seizures and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CPS1 Achchuthan Shanmugasundram reviewed gene: CPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9711878, 19793055, 11474210, 8486760, 17310273; Phenotypes: CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY, OMIM:237300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CPAMD8 Achchuthan Shanmugasundram reviewed gene: CPAMD8: Rating: GREEN; Mode of pathogenicity: ; Publications: 27839872; Phenotypes: Anterior Segment Dysgenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 COX7B Achchuthan Shanmugasundram reviewed gene: COX7B: Rating: GREEN; Mode of pathogenicity: ; Publications: 9747372, 23122588; Phenotypes: MICROPHTHALMIA WITH LINEAR SKIN LESIONS, OMIM:300887; 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 COX6B1 Achchuthan Shanmugasundram reviewed gene: COX6B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX IV DEFICIENCY, OMIM:220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 COX16 Achchuthan Shanmugasundram reviewed gene: COX16: Rating: GREEN; Mode of pathogenicity: ; Publications: 33169484; Phenotypes: COX16-related Developmental Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 COX15 Achchuthan Shanmugasundram reviewed gene: COX15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COX15-related Leigh Syndrome, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 COX14 Achchuthan Shanmugasundram reviewed gene: COX14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX IV DEFICIENCY, OMIM:220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 COX10 Achchuthan Shanmugasundram reviewed gene: COX10: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15455402, 10767350, 12928484; Phenotypes: LEIGH SYNDROME, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 COQ9 Achchuthan Shanmugasundram reviewed gene: COQ9: Rating: GREEN; Mode of pathogenicity: ; Publications: 19375058; Phenotypes: COENZYME Q10 DEFICIENCY, OMIM:607426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 COQ8A Achchuthan Shanmugasundram reviewed gene: COQ8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COENZYME Q10 DEFICIENCY, OMIM:607426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 COQ5 Achchuthan Shanmugasundram reviewed gene: COQ5: Rating: RED; Mode of pathogenicity: Other; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 COQ4 Achchuthan Shanmugasundram reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25658047; Phenotypes: COENZYME Q10 DEFICIENCY, PRIMARY, 7, OMIM:616276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 COQ2 Achchuthan Shanmugasundram reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17332895; Phenotypes: COENZYME Q10 DEFICIENCY, OMIM:607426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 COPB2 Achchuthan Shanmugasundram reviewed gene: COPB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34450031, 29036432; Phenotypes: COPB2-associated developmental delay and microcephaly, OMIM:617800, COPB2-related developmental delay and osteopenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 COPB1 Achchuthan Shanmugasundram reviewed gene: COPB1: Rating: RED; Mode of pathogenicity: Other; Publications: 33632302; Phenotypes: COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 COMP Achchuthan Shanmugasundram reviewed gene: COMP: Rating: RED; Mode of pathogenicity: Other; Publications: 9021009, 9463320, 12483304, 7670472, 9887340; Phenotypes: MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1, OMIM:132400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 COLEC11 Achchuthan Shanmugasundram reviewed gene: COLEC11: Rating: GREEN; Mode of pathogenicity: ; Publications: 2569826, 21258343, 8933348; Phenotypes: 3MC SYNDROME 2, OMIM:265050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 COLEC10 Achchuthan Shanmugasundram reviewed gene: COLEC10: Rating: GREEN; Mode of pathogenicity: ; Publications: 28301481, 35943032; Phenotypes: 3MC; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 COL9A3 Achchuthan Shanmugasundram reviewed gene: COL9A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 10090888, 10655510, 30450842, 24273071, 15551337, 31090205; Phenotypes: MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3, OMIM:600969, Stickler syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 COL9A2 Achchuthan Shanmugasundram reviewed gene: COL9A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 8528240, 21671392, 10364514, 31090205, 12244547; Phenotypes: STICKLER SYNDROME, TYPE V, OMIM:614284, MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2, OMIM:600204; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 COL9A1 Achchuthan Shanmugasundram reviewed gene: COL9A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16909383, 11565064; Phenotypes: STICKLER SYNDROME TYPE 4, OMIM:614134, MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6, OMIM:614135; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 COL6A3 Achchuthan Shanmugasundram reviewed gene: COL6A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 11992252; Phenotypes: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, OMIM:254090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 COL6A2 Achchuthan Shanmugasundram reviewed gene: COL6A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34167565, 15563506, 20106987, 11381124, 16075202, 19564581, 12218063; Phenotypes: COL6A2-related Ullrich congenital muscular dystrophy (monoallelic), OMIM:254090, COL6A2-related Ullrich congenital muscular dystrophy (biallelic), OMIM:254090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 COL6A1 Achchuthan Shanmugasundram reviewed gene: COL6A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: COL6A1 associated myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 COL4A4 Achchuthan Shanmugasundram reviewed gene: COL4A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 7987396, 9269635; Phenotypes: ALPORT SYNDROME AUTOSOMAL RECESSIVE, OMIM:203780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 COL4A3BP Achchuthan Shanmugasundram reviewed gene: COL4A3BP: 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 COL4A3 Achchuthan Shanmugasundram reviewed gene: COL4A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 9792860, 7633417, 7987301, 11134255, 9269635, 7987396; Phenotypes: ALPORT SYNDROME AUTOSOMAL RECESSIVE, OMIM:203780, ALPORT SYNDROME AUTOSOMAL DOMINANT, OMIM:104200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 COL4A2 Achchuthan Shanmugasundram reviewed gene: COL4A2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: PORENCEPHALY 2, OMIM:614483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 COL4A1 Achchuthan Shanmugasundram reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: PORENCEPHALY 1, OMIM:175780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 COL2A1 Achchuthan Shanmugasundram reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 14729840, 2339128, 3195588, 8723097, 1429602, 8325895, 15054848, 7849719, 7829510, 26443184, 2543071, 16088915, 8486375, 26626311, 8423604, 15671297, 26358419, 7757081, 7550321, 16752401, 1374906, 17721977, 7981752, 25060605, 7874117, 15316962; Phenotypes: ACHONDROGENESIS TYPE 2, OMIM:200610, STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR, OMIM:609508, KNIEST DYSPLASIA, OMIM:156550, SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA, OMIM:183900, SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE, OMIM:184250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 COL27A1 Achchuthan Shanmugasundram reviewed gene: COL27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28322503, 28276056, 31903681, 24986830; Phenotypes: Steel Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 COL25A1 Achchuthan Shanmugasundram reviewed gene: COL25A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25500261; Phenotypes: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, OMIM:616219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 COL1A1 Achchuthan Shanmugasundram reviewed gene: COL1A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 8097422, 12538651, 2339700, 8950680, 15728585, 8364588, 1864604, 15024692, 2037280, 7816518, 2794057, 1770532, 3403550, 8910493, 1737847, 3108247, 3082886, 2913053, 9295084, 1988452, 8100209, 8723681, 7881420, 2500431, 8757037, 2309707, 2511192, 1874719, 9067755, 34272483, 8456809, 15864348, 8786074, 3667599, 1634225, 7789952, 11286507, 21834035, 18409203, 2298750, 2295701, 1613761, 8408653; Phenotypes: COL1A1-RELATED OSTEOGENESIS IMPERFECTA, OMIM:166200, CAFFEY DISEASE, OMIM:114000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 COL18A1 Achchuthan Shanmugasundram reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19390655, 10942434, 27259167, 12415512, 25456301, 28602933; Phenotypes: KNOBLOCH SYNDROME TYPE I, OMIM:267750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 COL13A1 Achchuthan Shanmugasundram reviewed gene: COL13A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26626625; Phenotypes: Congenital Myasthenic Syndrome Type 19; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 COL11A2 Achchuthan Shanmugasundram reviewed gene: COL11A2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16033917, 10581026, 16189708, 15558753, 16637051, 7833911, 15372529, 10677296, 7859284, 9506662, 14234962; Phenotypes: STICKLER SYNDROME TYPE 3, OMIM:184840, DEAFNESS AUTOSOMAL DOMINANT TYPE 13, OMIM:601868, DEAFNESS AUTOSOMAL RECESSIVE TYPE 53, OMIM:609706, AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, OMIM:215150; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 COL11A1 Achchuthan Shanmugasundram reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10573014, 17236192, 27081569, 25091507, 25073711, 8872475, 21035103, 9529347, 10486316, 22499343; Phenotypes: FIBROCHONDROGENESIS, OMIM:228520, STICKLER SYNDROME, TYPE II, OMIM:604841; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 COL10A1 Achchuthan Shanmugasundram reviewed gene: COL10A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 7607655, 17403716, 9852679, 8554571, 8012364, 9525992, 9468540, 8304336, 8986632, 9067753, 10991694, 8004099, 12554676, 7749409; Phenotypes: SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA, OMIM:156500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 COG8 Achchuthan Shanmugasundram reviewed gene: COG8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COG8-CDG, OMIM:300204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 COG7 Achchuthan Shanmugasundram reviewed gene: COG7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COG7-CDG, OMIM:300171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 COG5 Achchuthan Shanmugasundram reviewed gene: COG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COG5-CDG, OMIM:319494; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 COG4 Achchuthan Shanmugasundram reviewed gene: COG4: Rating: GREEN; Mode of pathogenicity: ; Publications: 30290151; Phenotypes: Saul Wilson Syndrome, OMIM:618150, COG4-CDG, OMIM:319493; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 COG1 Achchuthan Shanmugasundram reviewed gene: COG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COG1-CDG, OMIM:300197; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 COASY Achchuthan Shanmugasundram reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: ; Publications: 35499143, 24360804; Phenotypes: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 COA5 Achchuthan Shanmugasundram reviewed gene: COA5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX IV DEFICIENCY, OMIM:220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CNTNAP2 Achchuthan Shanmugasundram reviewed gene: CNTNAP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11568923, 19896112, 16571880; Phenotypes: CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME, OMIM:610042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CNTNAP1 Achchuthan Shanmugasundram reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24319099; Phenotypes: LETHAL CONGENITAL CONTRACTURE SYNDROME 7, OMIM:616286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CNPY3 Achchuthan Shanmugasundram reviewed gene: CNPY3: Rating: GREEN; Mode of pathogenicity: ; Publications: 29394991; Phenotypes: EARLY ONSET EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CNOT3 Achchuthan Shanmugasundram reviewed gene: CNOT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CNOT3 syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CNOT1 Achchuthan Shanmugasundram reviewed gene: CNOT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31006513, 32553196, 31006510; Phenotypes: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS, OMIM:618500, CNOT1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CNNM2 Achchuthan Shanmugasundram reviewed gene: CNNM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21397062, 30026055, 24699222; Phenotypes: CNNM2-related neurodevelopmental disorder with hypomagnesemia, autosomal recessive form; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 CNKSR2 Achchuthan Shanmugasundram reviewed gene: CNKSR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25644381, 22511892; Phenotypes: INTELLECTUAL DISABILITY WITH EPILEPSY; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 CNKSR1 Achchuthan Shanmugasundram reviewed gene: CNKSR1: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CLTC Achchuthan Shanmugasundram reviewed gene: CLTC: Rating: GREEN; Mode of pathogenicity: ; Publications: 26822784, 29100083; Phenotypes: Epilepsy and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CLPP Achchuthan Shanmugasundram reviewed gene: CLPP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23541340; Phenotypes: PERRAULT SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CLPB Achchuthan Shanmugasundram reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: ; Publications: 25597510, 28687938; Phenotypes: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, OMIM:616271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CLP1 Achchuthan Shanmugasundram reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24766809; Phenotypes: PONTOCEREBELLAR HYPOPLASIA, TYPE 10, OMIM:615803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CLN8 Achchuthan Shanmugasundram reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: ; Publications: 16570191, 19431184, 10508524; Phenotypes: NEURONAL CEROID LIPOFUSCINOSIS TYPE 8, OMIM:600143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CLN6 Achchuthan Shanmugasundram reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: ; Publications: 11727201, 15996215, 11791207; Phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 6, OMIM:601780, CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, OMIM:204300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CLN5 Achchuthan Shanmugasundram reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: ; Publications: 9662406, 18684116, 15728307, 20157158; Phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 5, OMIM:256731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CLN3 Achchuthan Shanmugasundram reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19489875, 7887420, 9450775, 7553855; Phenotypes: NEURONAL CEROID LIPOFUSCINOSIS TYPE 3, OMIM:204200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CLMP Achchuthan Shanmugasundram reviewed gene: CLMP: Rating: GREEN; Mode of pathogenicity: ; Publications: 22155368; Phenotypes: CONGENITAL SHORT BOWEL SYNDROME, OMIM:615237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CLIC2 Achchuthan Shanmugasundram reviewed gene: CLIC2: Rating: RED; Mode of pathogenicity: Other; Publications: 22814392; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, X-linked, syndromic 32, OMIM:300886; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 CLDN5 Achchuthan Shanmugasundram reviewed gene: CLDN5: Rating: RED; Mode of pathogenicity: Other; Publications: 35714222; Phenotypes: CLDN5-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CLDN19 Achchuthan Shanmugasundram reviewed gene: CLDN19: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17033971; Phenotypes: HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, OMIM:248190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CLCNKB Achchuthan Shanmugasundram reviewed gene: CLCNKB: Rating: GREEN; Mode of pathogenicity: ; Publications: 15044642, 18310267; Phenotypes: BARTTER SYNDROME TYPE 4B, OMIM:613090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CLCNKA Achchuthan Shanmugasundram reviewed gene: CLCNKA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: BARTTER SYNDROME TYPE 4B, OMIM:613090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CLCN7 Achchuthan Shanmugasundram reviewed gene: CLCN7: Rating: GREEN; Mode of pathogenicity: ; Publications: 17033731, 11741829, 11207362; Phenotypes: CLCN7-RELATED OSTEOPETROSIS, OMIM:611490; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CLCN6 Achchuthan Shanmugasundram reviewed gene: CLCN6: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33217309, 28074849, 29667327; Phenotypes: CLCN6-related Developmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CLCN4 Achchuthan Shanmugasundram reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25644381, 27550844, 23647072; Phenotypes: INFANTILE EPILEPTIC ENCEPHALOPATHY AND/OR INTELLECTUAL DISABILITY; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 CLCN3 Achchuthan Shanmugasundram reviewed gene: CLCN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 34186028; Phenotypes: CLCN3-related Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512, CLCN3-related Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CKAP2L Achchuthan Shanmugasundram reviewed gene: CKAP2L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:272440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CIT Achchuthan Shanmugasundram reviewed gene: CIT: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27453578; Phenotypes: PRIMARY MICROCEPHALY, OMIM:615414; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CISD2 Achchuthan Shanmugasundram reviewed gene: CISD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28335035, 25056293, 17846994, 10739754; Phenotypes: WOLFRAM SYNDROME TYPE 2, OMIM:604928; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CIC Achchuthan Shanmugasundram reviewed gene: CIC: Rating: GREEN; Mode of pathogenicity: ; Publications: 35165976, 28288114, 21076407; Phenotypes: CIC-related neurodevelopmental disorder, OMIM:612082; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CIB2 Achchuthan Shanmugasundram reviewed gene: CIB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23023331, 18505454; Phenotypes: USHER SYNDROME TYPE 1J, OMIM:614869, NONSYNDROMIC DEAFNESS DFNB48, OMIM:609439; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CHUK Achchuthan Shanmugasundram reviewed gene: CHUK: Rating: GREEN; Mode of pathogenicity: ; Publications: 20961246; Phenotypes: COCOON SYNDROME, OMIM:613630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CHSY1 Achchuthan Shanmugasundram reviewed gene: CHSY1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21129727, 19952732, 21129728, 9823490; Phenotypes: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME, OMIM:605282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CHST3 Achchuthan Shanmugasundram reviewed gene: CHST3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19320654, 20830804, 112567, 15098240, 18513679, 18698629; Phenotypes: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, OMIM:143095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CHST14 Achchuthan Shanmugasundram reviewed gene: CHST14: Rating: GREEN; Mode of pathogenicity: ; Publications: 20533528, 20004762; Phenotypes: EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE, OMIM:601776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CHRNG Achchuthan Shanmugasundram reviewed gene: CHRNG: Rating: GREEN; Mode of pathogenicity: ; Publications: 16826520; Phenotypes: MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT, OMIM:265000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CHRNB2 Achchuthan Shanmugasundram reviewed gene: CHRNB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11062464; Phenotypes: CHRNB2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT, OMIM:605375; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CHRNB1 Achchuthan Shanmugasundram reviewed gene: CHRNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8872460, 10562302, 33296147, 27375219, 8651643; Phenotypes: CHRNB1-related congenital myaesthenia, biallelic, OMIM:616314, CHRNB1-related congenital myaesthenia, monoallelic, OMIM:616313; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 CHRNA4 Achchuthan Shanmugasundram reviewed gene: CHRNA4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 7647781; Phenotypes: NOCTURNAL FRONTAL LOBE EPILEPSY TYPE 1, OMIM:600513; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CHRNA3 Achchuthan Shanmugasundram reviewed gene: CHRNA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 31708116; Phenotypes: CHRNA3-related congenital anomalies of the kidney and urinary tract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CHRNA2 Achchuthan Shanmugasundram reviewed gene: CHRNA2: Rating: RED; Mode of pathogenicity: Other; Publications: 25770198, 25847220, 16826524, 30809122; Phenotypes: CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT, OMIM:291607; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CHRNA1 Achchuthan Shanmugasundram reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE, OMIM:253290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CHRM1 Achchuthan Shanmugasundram reviewed gene: CHRM1: Rating: RED; Mode of pathogenicity: Other; Publications: 34212451; Phenotypes: CHRM1-associated intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CHRDL1 Achchuthan Shanmugasundram reviewed gene: CHRDL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22284829, 26020825, 25712132; Phenotypes: MEGALOCORNEA, X-LINKED, OMIM:309300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 CHMP1A Achchuthan Shanmugasundram reviewed gene: CHMP1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 23023333; Phenotypes: PONTOCEREBELLAR HYPOPLASIA AND MICROCEPHALY, OMIM:614961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CHM Achchuthan Shanmugasundram reviewed gene: CHM: Rating: GREEN; Mode of pathogenicity: ; Publications: 21905166, 1302003, 28271586, 27070432, 7981670, 27820636, 12827496, 8477262, 1598901; Phenotypes: CHOROIDEREMIA, OMIM:303100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 CHKA Achchuthan Shanmugasundram reviewed gene: CHKA: Rating: GREEN; Mode of pathogenicity: ; Publications: 35202461; Phenotypes: CHKA-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CHD8 Achchuthan Shanmugasundram reviewed gene: CHD8: Rating: GREEN; Mode of pathogenicity: ; Publications: 23160955; Phenotypes: AUTISM, OMIM:209850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CHD7 Achchuthan Shanmugasundram reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: ; Publications: 16400610, 17661815, 18978652, 17334995, 26590800, 17937444, 15300250, 18074359; Phenotypes: CHARGE SYNDROME, OMIM:214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CHD5 Achchuthan Shanmugasundram reviewed gene: CHD5: Rating: RED; Mode of pathogenicity: ; Publications: 33944996; Phenotypes: CHD5-associated neurodevelopmental disorder with intellectual disability, speech delay and epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CHD4 Achchuthan Shanmugasundram reviewed gene: CHD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 27616479, 27479907; Phenotypes: Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CHD3 Achchuthan Shanmugasundram reviewed gene: CHD3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30397230; Phenotypes: Macrocephaly and impaired speech and language; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CHD2 Achchuthan Shanmugasundram reviewed gene: CHD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23708187; Phenotypes: EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CHD1 Achchuthan Shanmugasundram reviewed gene: CHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28866611; Phenotypes: CHD1-related neurodevelopment disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CHAMP1 Achchuthan Shanmugasundram reviewed gene: CHAMP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27148580, 26340335, 26751395, 35271727, 36106092; Phenotypes: CHAMP1-related neurodevelopmental disorder, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CFL2 Achchuthan Shanmugasundram reviewed gene: CFL2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17160903; Phenotypes: NEMALINE MYOPATHY 7, OMIM:610687; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CFC1 Achchuthan Shanmugasundram reviewed gene: CFC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS, OMIM:319372; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CEP85L Achchuthan Shanmugasundram reviewed gene: CEP85L: Rating: GREEN; Mode of pathogenicity: ; Publications: 32097630; Phenotypes: CEP85L-associated posterior-predominant lissencephaly, OMIM:618873; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CEP83 Achchuthan Shanmugasundram reviewed gene: CEP83: Rating: GREEN; Mode of pathogenicity: ; Publications: 24882706; Phenotypes: INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CEP63 Achchuthan Shanmugasundram reviewed gene: CEP63: Rating: GREEN; Mode of pathogenicity: ; Publications: 21983783; Phenotypes: SECKEL SYNDROME 6, OMIM:614728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CEP57 Achchuthan Shanmugasundram reviewed gene: CEP57: Rating: GREEN; Mode of pathogenicity: ; Publications: 21552266, 12116237; Phenotypes: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, OMIM:614114; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CEP41 Achchuthan Shanmugasundram reviewed gene: CEP41: Rating: GREEN; Mode of pathogenicity: ; Publications: 22246503; Phenotypes: JOUBERT SYNDROME 15, OMIM:614464; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CEP290 Achchuthan Shanmugasundram reviewed gene: CEP290: Rating: GREEN; Mode of pathogenicity: ; Publications: 17705300, 16682970, 17554762, 22355252, 17564967, 17564974, 18327255, 16682973, 20690115, 16909394; Phenotypes: JOUBERT SYNDROME TYPE 5, OMIM:610188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CEP152 Achchuthan Shanmugasundram reviewed gene: CEP152: Rating: GREEN; Mode of pathogenicity: ; Publications: 21131973; Phenotypes: CEP152-related Developmental Disorder, OMIM:604321; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CEP135 Achchuthan Shanmugasundram reviewed gene: CEP135: Rating: GREEN; Mode of pathogenicity: ; Publications: 22521416; Phenotypes: PRIMARY MICROCEPHALY AND DISTURBED CENTROSOMAL FUNCTION, OMIM:614673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CEP104 Achchuthan Shanmugasundram reviewed gene: CEP104: Rating: GREEN; Mode of pathogenicity: ; Publications: 26477546; Phenotypes: JOUBERT SYNDROME, OMIM:614615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CENPJ Achchuthan Shanmugasundram reviewed gene: CENPJ: Rating: GREEN; Mode of pathogenicity: ; Publications: 20522431, 20978018, 16900296, 12843329, 15793586; Phenotypes: CENPJ-related developmental disorder, OMIM:613676; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CENPF Achchuthan Shanmugasundram reviewed gene: CENPF: Rating: GREEN; Mode of pathogenicity: ; Publications: 27300082, 26820108, 28407396; Phenotypes: Stromme syndrome, OMIM:243605; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CELF2 Achchuthan Shanmugasundram reviewed gene: CELF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33131106; Phenotypes: CELF2-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CDT1 Achchuthan Shanmugasundram reviewed gene: CDT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21358632, 11992493; Phenotypes: MEIER-GORLIN SYNDROME 4, OMIM:613804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CDON Achchuthan Shanmugasundram reviewed gene: CDON: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21802063; Phenotypes: HOLOPROSENCEPHALY 11, OMIM:614226; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CDKN1C Achchuthan Shanmugasundram reviewed gene: CDKN1C: Rating: GREEN; Mode of pathogenicity: ; Publications: 9341892, 8841187, 14997421, 24624461, 20503313, 22634751, 28508599; Phenotypes: IMAGe Syndrome, OMIM:614732, BECKWITH-WIEDEMANN SYNDROME, OMIM:130650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
DDG2P v3.12 CDKL5 Achchuthan Shanmugasundram reviewed gene: CDKL5: Rating: GREEN; Mode of pathogenicity: ; Publications: 19241098, 35934918, 17993579, 18809835, 15499549, 15689447, 19793311, 15492925, 16611748, 16813600, 19396824; Phenotypes: EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2, OMIM:300672; 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 CDK8 Achchuthan Shanmugasundram reviewed gene: CDK8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30905399; Phenotypes: SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CDK5RAP2 Achchuthan Shanmugasundram reviewed gene: CDK5RAP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32015000; Phenotypes: PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY, OMIM:279936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CDK19 Achchuthan Shanmugasundram reviewed gene: CDK19: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32330417; Phenotypes: CDK19-associated Intellectual Disability and Epileptic Encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CDK16 Achchuthan Shanmugasundram reviewed gene: CDK16: Rating: RED; Mode of pathogenicity: ; Publications: 25644381, 36323681; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; 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 CDK13 Achchuthan Shanmugasundram reviewed gene: CDK13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27479907, 29021403, 29222009, 28807008, 29393965; Phenotypes: Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CDK10 Achchuthan Shanmugasundram reviewed gene: CDK10: Rating: RED; Mode of pathogenicity: ; Publications: 28886341, 29130579; Phenotypes: Severe Growth Retardation, Spine Malformations, and Developmental Delays; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CDH3 Achchuthan Shanmugasundram reviewed gene: CDH3: Rating: GREEN; Mode of pathogenicity: ; Publications: 15805154, 11544476, 22140374, 12445216; Phenotypes: EEM SYNDROME, OMIM:225280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CDH23 Achchuthan Shanmugasundram reviewed gene: CDH23: Rating: GREEN; Mode of pathogenicity: ; Publications: 21228398, 17850630, 12075507, 11138009, 15829536, 11090341, 15537665; Phenotypes: DEAFNESS AUTOSOMAL RECESSIVE TYPE 12, OMIM:601386, USHER SYNDROME TYPE 1D, OMIM:601067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CDH2 Achchuthan Shanmugasundram reviewed gene: CDH2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31585109, 31650526; Phenotypes: Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CDH15 Achchuthan Shanmugasundram reviewed gene: CDH15: Rating: RED; Mode of pathogenicity: ; Publications: 26506440, 19012874; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL DOMINANT TYPE 3, OMIM:612580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CDH11 Achchuthan Shanmugasundram reviewed gene: CDH11: Rating: GREEN; Mode of pathogenicity: ; Publications: 30194892, 28988429, 29271567, 34278706; Phenotypes: CDH11-related, OMIM:211380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CDH1 Achchuthan Shanmugasundram reviewed gene: CDH1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29348693; Phenotypes: Blepharo-cheiro-dontic syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CDC6 Achchuthan Shanmugasundram reviewed gene: CDC6: Rating: GREEN; Mode of pathogenicity: ; Publications: 11477602; Phenotypes: MEIER-GORLIN SYNDROME 5, OMIM:613805; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CDC45 Achchuthan Shanmugasundram reviewed gene: CDC45: Rating: GREEN; Mode of pathogenicity: ; Publications: 27374770; Phenotypes: Meier-Gorlin Syndrome and Craniosynostosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CDC42BPB Achchuthan Shanmugasundram reviewed gene: CDC42BPB: Rating: RED; Mode of pathogenicity: ; Publications: 32031333; Phenotypes: CDC42BPB-related Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CDC42 Achchuthan Shanmugasundram reviewed gene: CDC42: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26708094, 29394990, 26386261; Phenotypes: CDC42-related Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CDC40 Achchuthan Shanmugasundram reviewed gene: CDC40: Rating: RED; Mode of pathogenicity: Other; Publications: 33220177; Phenotypes: CDC40-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CD96 Achchuthan Shanmugasundram reviewed gene: CD96: Rating: RED; Mode of pathogenicity: ; Publications: 17847009; Phenotypes: C SYNDROME, OMIM:211750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CD151 Achchuthan Shanmugasundram reviewed gene: CD151: Rating: GREEN; Mode of pathogenicity: ; Publications: 15265795; Phenotypes: NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS, OMIM:609057; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CCNO Achchuthan Shanmugasundram reviewed gene: CCNO: Rating: GREEN; Mode of pathogenicity: ; Publications: 24747639; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 29, OMIM:615872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CCNK Achchuthan Shanmugasundram reviewed gene: CCNK: Rating: RED; Mode of pathogenicity: ; Publications: 30122539; Phenotypes: Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CCND2 Achchuthan Shanmugasundram reviewed gene: CCND2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24705253; Phenotypes: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME, OMIM:603387; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CCNA2 Achchuthan Shanmugasundram reviewed gene: CCNA2: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CCDC88C Achchuthan Shanmugasundram reviewed gene: CCDC88C: Rating: GREEN; Mode of pathogenicity: ; Publications: 23042809; Phenotypes: HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE, OMIM:236600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CCDC88A Achchuthan Shanmugasundram reviewed gene: CCDC88A: Rating: RED; Mode of pathogenicity: ; Publications: 26917597; Phenotypes: PEHO-like syndrome, OMIM:617507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CCDC8 Achchuthan Shanmugasundram reviewed gene: CCDC8: Rating: GREEN; Mode of pathogenicity: ; Publications: 21737058; Phenotypes: THREE M SYNDROME 3, OMIM:614205; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CCDC78 Achchuthan Shanmugasundram reviewed gene: CCDC78: Rating: GREEN; Mode of pathogenicity: ; Publications: 22818856; Phenotypes: CONGENITAL MYOPATHY WITH PROMINENT INTERNAL NUCLEI AND ATYPICAL CORES, OMIM:614807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CCDC65 Achchuthan Shanmugasundram reviewed gene: CCDC65: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CCDC47 Achchuthan Shanmugasundram reviewed gene: CCDC47: Rating: GREEN; Mode of pathogenicity: ; Publications: 30401460; Phenotypes: Woolly Hair Liver Dysfunction Dysmorphic Features and Global Developmental Delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CCDC40 Achchuthan Shanmugasundram reviewed gene: CCDC40: Rating: GREEN; Mode of pathogenicity: ; Publications: 21131974; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 15, OMIM:613808; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CCDC39 Achchuthan Shanmugasundram reviewed gene: CCDC39: Rating: GREEN; Mode of pathogenicity: ; Publications: 21131972; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 14, OMIM:613807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CCDC32 Achchuthan Shanmugasundram reviewed gene: CCDC32: Rating: GREEN; Mode of pathogenicity: ; Publications: 35451546, 32307552; Phenotypes: CCDC32-associated neurodevelopmental syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CCDC22 Achchuthan Shanmugasundram reviewed gene: CCDC22: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: SYNDROMIC X-LINKED INTELLECTUAL DISABILITY; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 CCDC151 Achchuthan Shanmugasundram reviewed gene: CCDC151: Rating: GREEN; Mode of pathogenicity: ; Publications: 25192045; Phenotypes: PRIMARY CILLARY DYSKINEASIA, OMIM:616037; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CCDC115 Achchuthan Shanmugasundram reviewed gene: CCDC115: Rating: GREEN; Mode of pathogenicity: ; Publications: 26833332; Phenotypes: Disorder of Golgi homeostasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CCDC114 Achchuthan Shanmugasundram reviewed gene: CCDC114: Rating: GREEN; Mode of pathogenicity: ; Publications: 23261303, 23261302; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CCDC103 Achchuthan Shanmugasundram reviewed gene: CCDC103: Rating: GREEN; Mode of pathogenicity: ; Publications: 22581229; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CCBE1 Achchuthan Shanmugasundram reviewed gene: CCBE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19935664; Phenotypes: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME, OMIM:235510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CC2D2A Achchuthan Shanmugasundram reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 18513680, 18950740, 18387594, 23351400, 20671153, 19777577, 2929661, 19574260, 8862632, 22246503; Phenotypes: JOUBERT SYNDROME 9, OMIM:612285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CC2D1A Achchuthan Shanmugasundram reviewed gene: CC2D1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 16033914; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE TYPE 3, OMIM:608443; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CBS Achchuthan Shanmugasundram reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: ; Publications: 8353501, 8528202, 1301198, 10780316, 9361025, 7506602, 8990018, 14635102, 16479318, 10338090, 8755636; Phenotypes: CYSTATHIONINE BETA-SYNTHASE DEFICIENCY, OMIM:236200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CBL Achchuthan Shanmugasundram reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20694012, 20543203, 20619386; Phenotypes: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA, OMIM:613563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CAV1 Achchuthan Shanmugasundram reviewed gene: CAV1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CONGENITAL GENERALIZED LIPODYSTROPHY TYPE 3, OMIM:612526; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CASP2 Achchuthan Shanmugasundram reviewed gene: CASP2: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CASK Achchuthan Shanmugasundram reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: ; Publications: 34085948, 19200522, 19165920, 21954287, 19377476, 20029458; Phenotypes: MRX WITH/WITHOUT NYSTAGMUS, OMIM:300749, FG SYNDROME TYPE 4, OMIM:300422, INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED CASK-RELATED, OMIM:300749; 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 CARS2 Achchuthan Shanmugasundram reviewed gene: CARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25361775, 25787132; Phenotypes: Epileptic encephalopathy with complex movement disorder and regression; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CARS Achchuthan Shanmugasundram reviewed gene: CARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 30824121; Phenotypes: Microcephaly Developmental Delay and Brittle Hair and Nails; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CAPRIN1 Achchuthan Shanmugasundram reviewed gene: CAPRIN1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23849776, 35979925; Phenotypes: CAPRIN1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CAPN10 Achchuthan Shanmugasundram reviewed gene: CAPN10: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CANT1 Achchuthan Shanmugasundram reviewed gene: CANT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19853239; Phenotypes: Desbuquois dysplasia 1, OMIM:251450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CAMTA1 Achchuthan Shanmugasundram reviewed gene: CAMTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22693284; Phenotypes: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:614756; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CAMSAP1 Achchuthan Shanmugasundram reviewed gene: CAMSAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36283405; Phenotypes: CAMSAP1-associated neuronal migration disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CAMK2G Achchuthan Shanmugasundram reviewed gene: CAMK2G: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23033978, 30184290; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER 59, OMIM:618522; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CAMK2B Achchuthan Shanmugasundram reviewed gene: CAMK2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 29100089, 29560374; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CAMK2A Achchuthan Shanmugasundram reviewed gene: CAMK2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 29100089, 29560374; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CAD Achchuthan Shanmugasundram reviewed gene: CAD: Rating: GREEN; Mode of pathogenicity: ; Publications: 25678555, 28007989; Phenotypes: Uridine-responsive epileptic encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CACNB4 Achchuthan Shanmugasundram reviewed gene: CACNB4: Rating: RED; Mode of pathogenicity: ; Publications: 10762541; Phenotypes: JUVENILE MYOCLONIC EPILEPSY, OMIM:611136; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CACNA2D1 Achchuthan Shanmugasundram reviewed gene: CACNA2D1: Rating: RED; Mode of pathogenicity: Other; Publications: 35293990; Phenotypes: CACNA2D1-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CACNA1H Achchuthan Shanmugasundram reviewed gene: CACNA1H: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6, OMIM:611942; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CACNA1G Achchuthan Shanmugasundram reviewed gene: CACNA1G: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, CACNA1G-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CACNA1E Achchuthan Shanmugasundram reviewed gene: CACNA1E: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30343943; Phenotypes: Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CACNA1D Achchuthan Shanmugasundram reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: ; Publications: 21131953, 23913001; Phenotypes: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, OMIM:615474, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, OMIM:614896; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 CACNA1C Achchuthan Shanmugasundram reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15454078; Phenotypes: TIMOTHY SYNDROME, OMIM:601005; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CACNA1B Achchuthan Shanmugasundram reviewed gene: CACNA1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 30982612; Phenotypes: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS, OMIM:618497; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CACNA1A Achchuthan Shanmugasundram reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28927557, 27476654, 23934111, 29366381, 28742085; Phenotypes: EPILEPTIC ENCEPHALOPATHY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 CA8 Achchuthan Shanmugasundram reviewed gene: CA8: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 19461874; Phenotypes: CEREBELLAR ATAXIA INTELLECTUAL DEVELOPMENTAL DISORDER AND DYSEQUILIBRIUM SYNDROME TYPE 3, OMIM:613227; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CA5A Achchuthan Shanmugasundram reviewed gene: CA5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 24530203; Phenotypes: HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, OMIM:615751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 CA2 Achchuthan Shanmugasundram reviewed gene: CA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 8127074, 12566520, 5041390, 1301935; Phenotypes: OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3, OMIM:259730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 C8orf37 Achchuthan Shanmugasundram reviewed gene: C8orf37: Rating: GREEN; Mode of pathogenicity: ; Publications: 27008867, 26854863, 25802487, 22177090, 26865426, 25113443; Phenotypes: CONE-ROD DYSTROPHY 16, OMIM:614500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 C5orf42 Achchuthan Shanmugasundram reviewed gene: C5orf42: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: JOUBERT SYNDROME, OMIM:614615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 C4orf26 Achchuthan Shanmugasundram reviewed gene: C4orf26: Rating: GREEN; Mode of pathogenicity: ; Publications: 22901946; Phenotypes: AMYELOGENESIS, OMIM:614832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 C2orf71 Achchuthan Shanmugasundram reviewed gene: C2orf71: Rating: GREEN; Mode of pathogenicity: ; Publications: 27029556, 20398886, 24780881, 20398884; Phenotypes: RETINITIS PIGMENTOSA 54, OMIM:613428; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 C2CD3 Achchuthan Shanmugasundram reviewed gene: C2CD3: Rating: GREEN; Mode of pathogenicity: ; Publications: 24997988; Phenotypes: OROFACIODIGITAL SYNDROME XIV, OMIM:615948; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 C21orf59 Achchuthan Shanmugasundram reviewed gene: C21orf59: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 C21orf2 Achchuthan Shanmugasundram reviewed gene: C21orf2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26974433; Phenotypes: Axial Spondylometaphyseal Dysplasia, OMIM:602271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 C1QBP Achchuthan Shanmugasundram reviewed gene: C1QBP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28942965; Phenotypes: Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 C12orf65 Achchuthan Shanmugasundram reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: ; Publications: 24198383, 26380172, 24424123, 24284555, 24080142, 20598281, 23188110, 27858754; Phenotypes: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7, OMIM:613559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 C12orf57 Achchuthan Shanmugasundram reviewed gene: C12orf57: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24798461, 23453666; Phenotypes: TEMTAMY SYNDROME, COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY, OMIM:218340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 C11orf70 Achchuthan Shanmugasundram reviewed gene: C11orf70: Rating: GREEN; Mode of pathogenicity: ; Publications: 29727692, 29727693; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 BUB1B Achchuthan Shanmugasundram reviewed gene: BUB1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 21190457, 9916837, 16411201, 11169558, 15475955; Phenotypes: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, OMIM:257300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 BUB1 Achchuthan Shanmugasundram reviewed gene: BUB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35044816; Phenotypes: BUB1-related microcephaly and developmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 BTD Achchuthan Shanmugasundram reviewed gene: BTD: Rating: GREEN; Mode of pathogenicity: ; Publications: 7550325, 9158148, 9375914, 8894703, 10801053, 9705240, 9099842; Phenotypes: BIOTINIDASE DEFICIENCY, OMIM:253260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 BSND Achchuthan Shanmugasundram reviewed gene: BSND: Rating: GREEN; Mode of pathogenicity: ; Publications: 12574213, 11687798, 19646679; Phenotypes: BARTTER SYNDROME TYPE 4A, OMIM:602522; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 BSN Achchuthan Shanmugasundram reviewed gene: BSN: Rating: RED; Mode of pathogenicity: Other; Publications: 36600631; Phenotypes: BSN-related epilepsy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 BRWD3 Achchuthan Shanmugasundram reviewed gene: BRWD3: Rating: GREEN; Mode of pathogenicity: ; Publications: 17668385, 30628072, 31714006; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 93, OMIM:300659; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 BRSK2 Achchuthan Shanmugasundram reviewed gene: BRSK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30879638; Phenotypes: Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 BRPF1 Achchuthan Shanmugasundram reviewed gene: BRPF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27939640, 27939639; Phenotypes: BRPF1 associated syndromic intellectual disability with ptosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 BRIP1 Achchuthan Shanmugasundram reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16116424; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP J, OMIM:609054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 BRF1 Achchuthan Shanmugasundram reviewed gene: BRF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27748960, 25561519, 32896090; Phenotypes: BRF1-related cerebellofaciodental syndrome, OMIM:616202; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 BRD4 Achchuthan Shanmugasundram reviewed gene: BRD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 30302754, 29379197; Phenotypes: CORNELIA DE LANGE-LIKE SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 BRCA2 Achchuthan Shanmugasundram reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15070707, 12065746, 14670928; Phenotypes: FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1, OMIM:605724; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 BRCA1 Achchuthan Shanmugasundram reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34680915, 12624153; Phenotypes: BRCA1-related Fanconi anaemia, OMIM:227650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 BRAT1 Achchuthan Shanmugasundram reviewed gene: BRAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22279524; Phenotypes: LETHAL NEONATAL RIGIDITY AND SEIZURE SYNDROME, OMIM:614498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 BRAF Achchuthan Shanmugasundram reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16372351, 19206169, 16474404, 18042262; Phenotypes: CARDIOFACIOCUTANEOUS SYNDROME, OMIM:115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 BPTF Achchuthan Shanmugasundram reviewed gene: BPTF: Rating: GREEN; Mode of pathogenicity: ; Publications: 28942966; Phenotypes: Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 BOLA3 Achchuthan Shanmugasundram reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 11156534; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2, OMIM:614299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 BNC2 Achchuthan Shanmugasundram reviewed gene: BNC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31051115; Phenotypes: Congenital Lower Urinary Tract Obstruction; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 BMPR1B Achchuthan Shanmugasundram reviewed gene: BMPR1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 18203755, 14523231; Phenotypes: BRACHYDACTYLY TYPE A2, OMIM:112600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 BMPER Achchuthan Shanmugasundram reviewed gene: BMPER: Rating: GREEN; Mode of pathogenicity: ; Publications: 20869035; Phenotypes: DIAPHANOSPONDYLODYSOSTOSIS, OMIM:608022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 BMP4 Achchuthan Shanmugasundram reviewed gene: BMP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 18252212, 19249007, 21340693; Phenotypes: BMP4-associated malformations, OMIM:607932; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 BMP2 Achchuthan Shanmugasundram reviewed gene: BMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Short stature, palatal anomalies, congenital heart disease, and skeletal malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 BLOC1S6 Achchuthan Shanmugasundram reviewed gene: BLOC1S6: Rating: GREEN; Mode of pathogenicity: ; Publications: 21665000, 22461475; Phenotypes: HERMANSKY-PUDLAK SYNDROME 9, OMIM:614171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 BLM Achchuthan Shanmugasundram reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: ; Publications: 10678659, 7585968, 8875252; Phenotypes: BLOOM SYNDROME, OMIM:210900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 BIN1 Achchuthan Shanmugasundram reviewed gene: BIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17676042, 20142620; Phenotypes: CENTRONUCLEAR MYOPATHY 2, OMIM:255200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 BICRA Achchuthan Shanmugasundram reviewed gene: BICRA: Rating: GREEN; Mode of pathogenicity: ; Publications: 33232675; Phenotypes: BICRA-related Developmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 BICD2 Achchuthan Shanmugasundram reviewed gene: BICD2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23664120; Phenotypes: Proximal spinal muscular atrophy with brain anomalies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 BHLHA9 Achchuthan Shanmugasundram reviewed gene: BHLHA9: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22147889, 23790188, 25466284; Phenotypes: MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE, OMIM:69432, SPLIT HAND AND FOOT MALFORMATION, OMIM:220600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.12 BGN Achchuthan Shanmugasundram reviewed gene: BGN: Rating: GREEN; Mode of pathogenicity: ; Publications: 27632686, 27236923, 34807424; Phenotypes: Severe syndromic form of thoracic aortic aneurysm & dissection, X-Linked Spondyloepimetaphyseal Dysplasia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.12 BFSP2 Achchuthan Shanmugasundram reviewed gene: BFSP2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 10634598, 10729115; Phenotypes: CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED, OMIM:611597; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.12 BCS1L Achchuthan Shanmugasundram reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 12215968; Phenotypes: GRACILE SYNDROME, OMIM:603358; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal