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Childhood onset hereditary spastic paraplegia v1.76 SLC2A1 Louise Daugherty Source NHS GMS was added to SLC2A1.
Childhood onset hereditary spastic paraplegia v1.76 ARL6IP1 Louise Daugherty Source NHS GMS was added to ARL6IP1.
Childhood onset hereditary spastic paraplegia v1.76 UBAP1 Louise Daugherty Source NHS GMS was added to UBAP1.
Childhood onset hereditary spastic paraplegia v1.76 ENTPD1 Louise Daugherty Source NHS GMS was added to ENTPD1.
Childhood onset hereditary spastic paraplegia v1.76 GAD1 Louise Daugherty Source NHS GMS was added to GAD1.
Childhood onset hereditary spastic paraplegia v1.76 WDR48 Louise Daugherty Source NHS GMS was added to WDR48.
Childhood onset hereditary spastic paraplegia v1.76 ARSI Louise Daugherty Source NHS GMS was added to ARSI.
Childhood onset hereditary spastic paraplegia v1.76 CCT5 Louise Daugherty Source NHS GMS was added to CCT5.
Childhood onset hereditary spastic paraplegia v1.76 KLC4 Louise Daugherty Source NHS GMS was added to KLC4.
Childhood onset hereditary spastic paraplegia v1.76 MARS Louise Daugherty Source NHS GMS was added to MARS.
Childhood onset hereditary spastic paraplegia v1.76 PCDH12 Louise Daugherty Source NHS GMS was added to PCDH12.
Childhood onset hereditary spastic paraplegia v1.76 PGAP1 Louise Daugherty Source NHS GMS was added to PGAP1.
Childhood onset hereditary spastic paraplegia v1.76 RAB3GAP2 Louise Daugherty Source NHS GMS was added to RAB3GAP2.
Childhood onset hereditary spastic paraplegia v1.76 USP8 Louise Daugherty Source NHS GMS was added to USP8.
Childhood onset hereditary spastic paraplegia v1.76 ZEB2 Louise Daugherty Source NHS GMS was added to ZEB2.
Childhood onset hereditary spastic paraplegia v1.76 ZFYVE27 Louise Daugherty Source NHS GMS was added to ZFYVE27.
Childhood onset hereditary spastic paraplegia v1.75 ABCD1 Louise Daugherty Source Yorkshire and North East GLH was added to ABCD1.
Childhood onset hereditary spastic paraplegia v1.75 ADAR Louise Daugherty Source Yorkshire and North East GLH was added to ADAR.
Childhood onset hereditary spastic paraplegia v1.75 AFG3L2 Louise Daugherty Source Yorkshire and North East GLH was added to AFG3L2.
Childhood onset hereditary spastic paraplegia v1.75 AIMP1 Louise Daugherty Source Yorkshire and North East GLH was added to AIMP1.
Childhood onset hereditary spastic paraplegia v1.75 ALDH18A1 Louise Daugherty Source Yorkshire and North East GLH was added to ALDH18A1.
Childhood onset hereditary spastic paraplegia v1.75 ALS2 Louise Daugherty Source Yorkshire and North East GLH was added to ALS2.
Childhood onset hereditary spastic paraplegia v1.75 AMPD2 Louise Daugherty Source Yorkshire and North East GLH was added to AMPD2.
Childhood onset hereditary spastic paraplegia v1.75 AP4B1 Louise Daugherty Source Yorkshire and North East GLH was added to AP4B1.
Childhood onset hereditary spastic paraplegia v1.75 AP4E1 Louise Daugherty Source Yorkshire and North East GLH was added to AP4E1.
Childhood onset hereditary spastic paraplegia v1.75 AP4M1 Louise Daugherty Source Yorkshire and North East GLH was added to AP4M1.
Childhood onset hereditary spastic paraplegia v1.75 AP4S1 Louise Daugherty Source Yorkshire and North East GLH was added to AP4S1.
Childhood onset hereditary spastic paraplegia v1.75 AP5Z1 Louise Daugherty Source Yorkshire and North East GLH was added to AP5Z1.
Childhood onset hereditary spastic paraplegia v1.75 ARG1 Louise Daugherty Source Yorkshire and North East GLH was added to ARG1.
Childhood onset hereditary spastic paraplegia v1.75 ATL1 Louise Daugherty Source Yorkshire and North East GLH was added to ATL1.
Childhood onset hereditary spastic paraplegia v1.75 ATP13A2 Louise Daugherty Source Yorkshire and North East GLH was added to ATP13A2.
Childhood onset hereditary spastic paraplegia v1.75 B4GALNT1 Louise Daugherty Source Yorkshire and North East GLH was added to B4GALNT1.
Childhood onset hereditary spastic paraplegia v1.75 BSCL2 Louise Daugherty Source Yorkshire and North East GLH was added to BSCL2.
Childhood onset hereditary spastic paraplegia v1.75 C12orf65 Louise Daugherty Source Yorkshire and North East GLH was added to C12orf65.
Childhood onset hereditary spastic paraplegia v1.75 C19orf12 Louise Daugherty Source Yorkshire and North East GLH was added to C19orf12.
Childhood onset hereditary spastic paraplegia v1.75 CAPN1 Louise Daugherty Source Yorkshire and North East GLH was added to CAPN1.
Childhood onset hereditary spastic paraplegia v1.75 CYP27A1 Louise Daugherty Source Yorkshire and North East GLH was added to CYP27A1.
Childhood onset hereditary spastic paraplegia v1.75 CYP2U1 Louise Daugherty Source Yorkshire and North East GLH was added to CYP2U1.
Childhood onset hereditary spastic paraplegia v1.75 CYP7B1 Louise Daugherty Source Yorkshire and North East GLH was added to CYP7B1.
Childhood onset hereditary spastic paraplegia v1.75 DARS Louise Daugherty Source Yorkshire and North East GLH was added to DARS.
Childhood onset hereditary spastic paraplegia v1.75 DDHD1 Louise Daugherty Source Yorkshire and North East GLH was added to DDHD1.
Fetal anomalies v0.249 HNRNPK Rebecca Foulger Phenotypes for gene: HNRNPK were changed from Au-Kline Syndrome to Au-Kline syndrome, 616580
Childhood onset hereditary spastic paraplegia v1.75 DDHD2 Louise Daugherty Source Yorkshire and North East GLH was added to DDHD2.
Childhood onset hereditary spastic paraplegia v1.75 DSTYK Louise Daugherty Source Yorkshire and North East GLH was added to DSTYK.
Childhood onset hereditary spastic paraplegia v1.75 ERLIN1 Louise Daugherty Source Yorkshire and North East GLH was added to ERLIN1.
Childhood onset hereditary spastic paraplegia v1.75 ERLIN2 Louise Daugherty Source Yorkshire and North East GLH was added to ERLIN2.
Childhood onset hereditary spastic paraplegia v1.75 FA2H Louise Daugherty Source Yorkshire and North East GLH was added to FA2H.
Childhood onset hereditary spastic paraplegia v1.75 FARS2 Louise Daugherty Source Yorkshire and North East GLH was added to FARS2.
Childhood onset hereditary spastic paraplegia v1.75 GBA2 Louise Daugherty Source Yorkshire and North East GLH was added to GBA2.
Childhood onset hereditary spastic paraplegia v1.75 HACE1 Louise Daugherty Source Yorkshire and North East GLH was added to HACE1.
Childhood onset hereditary spastic paraplegia v1.75 GCH1 Louise Daugherty Source Yorkshire and North East GLH was added to GCH1.
Childhood onset hereditary spastic paraplegia v1.75 GJC2 Louise Daugherty Source Yorkshire and North East GLH was added to GJC2.
Childhood onset hereditary spastic paraplegia v1.75 KIDINS220 Louise Daugherty Source Yorkshire and North East GLH was added to KIDINS220.
Childhood onset hereditary spastic paraplegia v1.75 IBA57 Louise Daugherty Source Yorkshire and North East GLH was added to IBA57.
Childhood onset hereditary spastic paraplegia v1.75 KIF1A Louise Daugherty Source Yorkshire and North East GLH was added to KIF1A.
Childhood onset hereditary spastic paraplegia v1.75 KCNA2 Louise Daugherty Source Yorkshire and North East GLH was added to KCNA2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.75 KIF5A Louise Daugherty Source Yorkshire and North East GLH was added to KIF5A.
Childhood onset hereditary spastic paraplegia v1.75 L1CAM Louise Daugherty Source Yorkshire and North East GLH was added to L1CAM.
Childhood onset hereditary spastic paraplegia v1.75 NIPA1 Louise Daugherty Source Yorkshire and North East GLH was added to NIPA1.
Childhood onset hereditary spastic paraplegia v1.75 LYST Louise Daugherty Source Yorkshire and North East GLH was added to LYST.
Childhood onset hereditary spastic paraplegia v1.75 NKX6-2 Louise Daugherty Source Yorkshire and North East GLH was added to NKX6-2.
Childhood onset hereditary spastic paraplegia v1.75 NT5C2 Louise Daugherty Source Yorkshire and North East GLH was added to NT5C2.
Childhood onset hereditary spastic paraplegia v1.75 OPA3 Louise Daugherty Source Yorkshire and North East GLH was added to OPA3.
Childhood onset hereditary spastic paraplegia v1.75 KIF1C Louise Daugherty Source Yorkshire and North East GLH was added to KIF1C.
Childhood onset hereditary spastic paraplegia v1.75 MAG Louise Daugherty Source Yorkshire and North East GLH was added to MAG.
Childhood onset hereditary spastic paraplegia v1.75 MARS2 Louise Daugherty Source Yorkshire and North East GLH was added to MARS2.
Childhood onset hereditary spastic paraplegia v1.75 MTPAP Louise Daugherty Source Yorkshire and North East GLH was added to MTPAP.
Childhood onset hereditary spastic paraplegia v1.75 KDM5C Louise Daugherty Source Yorkshire and North East GLH was added to KDM5C.
Childhood onset hereditary spastic paraplegia v1.75 PLP1 Louise Daugherty Source Yorkshire and North East GLH was added to PLP1.
Childhood onset hereditary spastic paraplegia v1.75 PNPLA6 Louise Daugherty Source Yorkshire and North East GLH was added to PNPLA6.
Childhood onset hereditary spastic paraplegia v1.75 PSEN1 Louise Daugherty Source Yorkshire and North East GLH was added to PSEN1.
Childhood onset hereditary spastic paraplegia v1.75 REEP1 Louise Daugherty Source Yorkshire and North East GLH was added to REEP1.
Childhood onset hereditary spastic paraplegia v1.75 REEP2 Louise Daugherty Source Yorkshire and North East GLH was added to REEP2.
Childhood onset hereditary spastic paraplegia v1.75 RTN2 Louise Daugherty Source Yorkshire and North East GLH was added to RTN2.
Childhood onset hereditary spastic paraplegia v1.75 SACS Louise Daugherty Source Yorkshire and North East GLH was added to SACS.
Childhood onset hereditary spastic paraplegia v1.75 SERAC1 Louise Daugherty Source Yorkshire and North East GLH was added to SERAC1.
Childhood onset hereditary spastic paraplegia v1.75 SLC16A2 Louise Daugherty Source Yorkshire and North East GLH was added to SLC16A2.
Childhood onset hereditary spastic paraplegia v1.75 SLC1A4 Louise Daugherty Source Yorkshire and North East GLH was added to SLC1A4.
Childhood onset hereditary spastic paraplegia v1.75 SLC33A1 Louise Daugherty Source Yorkshire and North East GLH was added to SLC33A1.
Childhood onset hereditary spastic paraplegia v1.75 SLC25A46 Louise Daugherty Source Yorkshire and North East GLH was added to SLC25A46.
Childhood onset hereditary spastic paraplegia v1.75 SPART Louise Daugherty Source Yorkshire and North East GLH was added to SPART.
Childhood onset hereditary spastic paraplegia v1.75 SLC2A1 Louise Daugherty Source Yorkshire and North East GLH was added to SLC2A1.
Childhood onset hereditary spastic paraplegia v1.75 SPAST Louise Daugherty Source Yorkshire and North East GLH was added to SPAST.
Childhood onset hereditary spastic paraplegia v1.75 SPG11 Louise Daugherty Source Yorkshire and North East GLH was added to SPG11.
Childhood onset hereditary spastic paraplegia v1.75 SPG21 Louise Daugherty Source Yorkshire and North East GLH was added to SPG21.
Childhood onset hereditary spastic paraplegia v1.75 SPG7 Louise Daugherty Source Yorkshire and North East GLH was added to SPG7.
Childhood onset hereditary spastic paraplegia v1.75 TECPR2 Louise Daugherty Source Yorkshire and North East GLH was added to TECPR2.
Childhood onset hereditary spastic paraplegia v1.75 TFG Louise Daugherty Source Yorkshire and North East GLH was added to TFG.
Childhood onset hereditary spastic paraplegia v1.75 TUBB4A Louise Daugherty Source Yorkshire and North East GLH was added to TUBB4A.
Childhood onset hereditary spastic paraplegia v1.75 WASHC5 Louise Daugherty Source Yorkshire and North East GLH was added to WASHC5.
Childhood onset hereditary spastic paraplegia v1.75 VAMP1 Louise Daugherty Source Yorkshire and North East GLH was added to VAMP1.
Childhood onset hereditary spastic paraplegia v1.75 WDR45B Louise Daugherty Source Yorkshire and North East GLH was added to WDR45B.
Childhood onset hereditary spastic paraplegia v1.75 UCHL1 Louise Daugherty Source Yorkshire and North East GLH was added to UCHL1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.75 VPS37A Louise Daugherty Source Yorkshire and North East GLH was added to VPS37A.
Childhood onset hereditary spastic paraplegia v1.75 CPT1C Louise Daugherty Source Yorkshire and North East GLH was added to CPT1C.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.75 POLR3A Louise Daugherty Source Yorkshire and North East GLH was added to POLR3A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.75 ARL6IP1 Louise Daugherty Source Yorkshire and North East GLH was added to ARL6IP1.
Childhood onset hereditary spastic paraplegia v1.75 UBAP1 Louise Daugherty Source Yorkshire and North East GLH was added to UBAP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.75 CDK16 Louise Daugherty Source Yorkshire and North East GLH was added to CDK16.
Childhood onset hereditary spastic paraplegia v1.75 HSPD1 Louise Daugherty Source Yorkshire and North East GLH was added to HSPD1.
Childhood onset hereditary spastic paraplegia v1.75 ENTPD1 Louise Daugherty Source Yorkshire and North East GLH was added to ENTPD1.
Childhood onset hereditary spastic paraplegia v1.75 GAD1 Louise Daugherty Source Yorkshire and North East GLH was added to GAD1.
Childhood onset hereditary spastic paraplegia v1.75 WDR48 Louise Daugherty Source Yorkshire and North East GLH was added to WDR48.
Childhood onset hereditary spastic paraplegia v1.75 ARSI Louise Daugherty Source Yorkshire and North East GLH was added to ARSI.
Childhood onset hereditary spastic paraplegia v1.75 CCT5 Louise Daugherty Source Yorkshire and North East GLH was added to CCT5.
Childhood onset hereditary spastic paraplegia v1.75 KLC4 Louise Daugherty Source Yorkshire and North East GLH was added to KLC4.
Childhood onset hereditary spastic paraplegia v1.75 MARS Louise Daugherty Source Yorkshire and North East GLH was added to MARS.
Childhood onset hereditary spastic paraplegia v1.75 PCDH12 Louise Daugherty Source Yorkshire and North East GLH was added to PCDH12.
Childhood onset hereditary spastic paraplegia v1.75 PGAP1 Louise Daugherty Source Yorkshire and North East GLH was added to PGAP1.
Childhood onset hereditary spastic paraplegia v1.75 RAB3GAP2 Louise Daugherty Source Yorkshire and North East GLH was added to RAB3GAP2.
Childhood onset hereditary spastic paraplegia v1.75 USP8 Louise Daugherty Source Yorkshire and North East GLH was added to USP8.
Childhood onset hereditary spastic paraplegia v1.75 ZEB2 Louise Daugherty Source Yorkshire and North East GLH was added to ZEB2.
Childhood onset hereditary spastic paraplegia v1.75 ZFYVE27 Louise Daugherty Source Yorkshire and North East GLH was added to ZFYVE27.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 VMA21 Louise Daugherty Source NHS GMS was added to VMA21.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 TPM3 Louise Daugherty Source NHS GMS was added to TPM3.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 TPM2 Louise Daugherty Source NHS GMS was added to TPM2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 TNNT3 Louise Daugherty Source NHS GMS was added to TNNT3.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 SELENON Louise Daugherty Source NHS GMS was added to SELENON.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 SCN4A Louise Daugherty Source NHS GMS was added to SCN4A.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 RYR1 Louise Daugherty Source NHS GMS was added to RYR1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 RAPSN Louise Daugherty Source NHS GMS was added to RAPSN.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 PYGM Louise Daugherty Source NHS GMS was added to PYGM.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 POLG Louise Daugherty Source NHS GMS was added to POLG.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 POGLUT1 Louise Daugherty Source NHS GMS was added to POGLUT1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 PHKA1 Louise Daugherty Source NHS GMS was added to PHKA1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 PGK1 Louise Daugherty Source NHS GMS was added to PGK1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 PFKM Louise Daugherty Source NHS GMS was added to PFKM.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 NEB Louise Daugherty Source NHS GMS was added to NEB.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 MYH7 Louise Daugherty Source NHS GMS was added to MYH7.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 MYH14 Louise Daugherty Source NHS GMS was added to MYH14.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 MTM1 Louise Daugherty Source NHS GMS was added to MTM1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 MATR3 Louise Daugherty Source NHS GMS was added to MATR3.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 LPIN1 Louise Daugherty Source NHS GMS was added to LPIN1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 LAMP2 Louise Daugherty Source NHS GMS was added to LAMP2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 LAMA2 Louise Daugherty Source NHS GMS was added to LAMA2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 GYG1 Louise Daugherty Source NHS GMS was added to GYG1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 GFPT1 Louise Daugherty Source NHS GMS was added to GFPT1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 GBE1 Louise Daugherty Source NHS GMS was added to GBE1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 ETFDH Louise Daugherty Source NHS GMS was added to ETFDH.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 DPM3 Louise Daugherty Source NHS GMS was added to DPM3.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 DOK7 Louise Daugherty Source NHS GMS was added to DOK7.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 DNM2 Louise Daugherty Source NHS GMS was added to DNM2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 CRYAB Louise Daugherty Source NHS GMS was added to CRYAB.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 CPT2 Louise Daugherty Source NHS GMS was added to CPT2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 COLQ Louise Daugherty Source NHS GMS was added to COLQ.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 COL12A1 Louise Daugherty Source NHS GMS was added to COL12A1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 CLCN1 Louise Daugherty Source NHS GMS was added to CLCN1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 CHRND Louise Daugherty Source NHS GMS was added to CHRND.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 BAG3 Louise Daugherty Source NHS GMS was added to BAG3.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 ATP2A1 Louise Daugherty Source NHS GMS was added to ATP2A1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 ANO5 Louise Daugherty Source NHS GMS was added to ANO5.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 AGL Louise Daugherty Source NHS GMS was added to AGL.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 ACTA1 Louise Daugherty Source NHS GMS was added to ACTA1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.86 ACADVL Louise Daugherty Source NHS GMS was added to ACADVL.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 VMA21 Louise Daugherty Source Yorkshire and North East GLH was added to VMA21.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 TTN Louise Daugherty Source Yorkshire and North East GLH was added to TTN.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 TPM3 Louise Daugherty Source Yorkshire and North East GLH was added to TPM3.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 TPM2 Louise Daugherty Source Yorkshire and North East GLH was added to TPM2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 TNNT3 Louise Daugherty Source Yorkshire and North East GLH was added to TNNT3.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 SYNE2 Louise Daugherty Source Yorkshire and North East GLH was added to SYNE2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 SMCHD1 Louise Daugherty Source Yorkshire and North East GLH was added to SMCHD1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 SELENON Louise Daugherty Source Yorkshire and North East GLH was added to SELENON.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 SCN4A Louise Daugherty Source Yorkshire and North East GLH was added to SCN4A.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 RYR1 Louise Daugherty Source Yorkshire and North East GLH was added to RYR1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 RAPSN Louise Daugherty Source Yorkshire and North East GLH was added to RAPSN.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 PYGM Louise Daugherty Source Yorkshire and North East GLH was added to PYGM.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 POMK Louise Daugherty Source Yorkshire and North East GLH was added to POMK.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 POMGNT2 Louise Daugherty Source Yorkshire and North East GLH was added to POMGNT2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 POLG Louise Daugherty Source Yorkshire and North East GLH was added to POLG.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 POGLUT1 Louise Daugherty Source Yorkshire and North East GLH was added to POGLUT1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 PHKA1 Louise Daugherty Source Yorkshire and North East GLH was added to PHKA1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 PGK1 Louise Daugherty Source Yorkshire and North East GLH was added to PGK1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 PFKM Louise Daugherty Source Yorkshire and North East GLH was added to PFKM.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 NEB Louise Daugherty Source Yorkshire and North East GLH was added to NEB.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 MYH7 Louise Daugherty Source Yorkshire and North East GLH was added to MYH7.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 MYH14 Louise Daugherty Source Yorkshire and North East GLH was added to MYH14.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 MTM1 Louise Daugherty Source Yorkshire and North East GLH was added to MTM1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 MATR3 Louise Daugherty Source Yorkshire and North East GLH was added to MATR3.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 LPIN1 Louise Daugherty Source Yorkshire and North East GLH was added to LPIN1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 LIMS2 Louise Daugherty Source Yorkshire and North East GLH was added to LIMS2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 LAMP2 Louise Daugherty Source Yorkshire and North East GLH was added to LAMP2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 LAMA2 Louise Daugherty Source Yorkshire and North East GLH was added to LAMA2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 ISPD Louise Daugherty Source Yorkshire and North East GLH was added to ISPD.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 HNRNPDL Louise Daugherty Source Yorkshire and North East GLH was added to HNRNPDL.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 GYG1 Louise Daugherty Source Yorkshire and North East GLH was added to GYG1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 GNE Louise Daugherty Source Yorkshire and North East GLH was added to GNE.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 GFPT1 Louise Daugherty Source Yorkshire and North East GLH was added to GFPT1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 GBE1 Louise Daugherty Source Yorkshire and North East GLH was added to GBE1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 ETFDH Louise Daugherty Source Yorkshire and North East GLH was added to ETFDH.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 DPM3 Louise Daugherty Source Yorkshire and North East GLH was added to DPM3.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 DOK7 Louise Daugherty Source Yorkshire and North East GLH was added to DOK7.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 DNM2 Louise Daugherty Source Yorkshire and North East GLH was added to DNM2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 DES Louise Daugherty Source Yorkshire and North East GLH was added to DES.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 DAG1 Louise Daugherty Source Yorkshire and North East GLH was added to DAG1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 CRYAB Louise Daugherty Source Yorkshire and North East GLH was added to CRYAB.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 CPT2 Louise Daugherty Source Yorkshire and North East GLH was added to CPT2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 COLQ Louise Daugherty Source Yorkshire and North East GLH was added to COLQ.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 COL12A1 Louise Daugherty Source Yorkshire and North East GLH was added to COL12A1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 CLCN1 Louise Daugherty Source Yorkshire and North East GLH was added to CLCN1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 CHRND Louise Daugherty Source Yorkshire and North East GLH was added to CHRND.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 BVES Louise Daugherty Source Yorkshire and North East GLH was added to BVES.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 BAG3 Louise Daugherty Source Yorkshire and North East GLH was added to BAG3.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 ATP2A1 Louise Daugherty Source Yorkshire and North East GLH was added to ATP2A1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 ANO5 Louise Daugherty Source Yorkshire and North East GLH was added to ANO5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 AGL Louise Daugherty Source Yorkshire and North East GLH was added to AGL.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 ACTA1 Louise Daugherty Source Yorkshire and North East GLH was added to ACTA1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 ACADVL Louise Daugherty Source Yorkshire and North East GLH was added to ACADVL.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.84 MYH7 Louise Daugherty Phenotypes for gene: MYH7 were changed from Laing distal myopathy, 160500 to Laing distal myopathy, 160500; cardiomyopathy; distal myopathy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.83 TTN Louise Daugherty Phenotypes for gene: TTN were changed from Muscular dystrophy, limb-girdle, type 2J, 608807; Limb girdle muscular dystrophy; Distal myopathy; Myofibrillar myopathy; Congenital myopathy; dilated cardiomyopathy to Muscular dystrophy, limb-girdle, type 2J, 608807; Limb girdle muscular dystrophy; Distal myopathy; Myofibrillar myopathy; Congenital myopathy; dilated cardiomyopathy; HMERF; arthrogryposis
Fetal anomalies v0.248 CNOT1 Rebecca Foulger Classified gene: CNOT1 as Amber List (moderate evidence)
Fetal anomalies v0.248 CNOT1 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber awaiting clinical review. In summary: Sufficient (five) unrelated cases from two 2019 papers (PMID:31006513 and PMID:31006510) with holoprosencephaly, and pancreatic agenesis in 4/5 cases. The same heterozygous variant was recorded in all five individuals and authors of PMID:31006513 suggest phenotype is variant-specific rather than LOF. Mice require a homozygous variant to display a phenotype.
Fetal anomalies v0.248 CNOT1 Rebecca Foulger Gene: cnot1 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.82 LAMA2 Louise Daugherty Phenotypes for gene: LAMA2 were changed from Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 to Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855; congenital muscular dystroph
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.81 MATR3 Louise Daugherty Phenotypes for gene: MATR3 were changed from Amyotrophic lateral sclerosis 21, 606070 to Amyotrophic lateral sclerosis 21, 606070; ALS; myofibrillar myopathy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.80 HNRNPDL Louise Daugherty Publications for gene: HNRNPDL were set to 24647604; 15367920
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.79 CRYAB Louise Daugherty Phenotypes for gene: CRYAB were changed from Cataract 16, multiple types, 613763 to Cataract 16, multiple types, 613763; myofibrillar myopathy
Fetal anomalies v0.247 CNOT1 Rebecca Foulger commented on gene: CNOT1: Kruszka et al., 2019 (PMID:31006510) report two unrelated individuals with semilobar holoprosencephaly who have the identical de novo missense variant in the gene CNOT1. (c.1603C>T [p.Arg535Cys]). Proband 1 was born after a pregnancy complicated by IUGR. Additional medical problems include diabetes, pancreatice exocrine insufficiency and facial characteristics. No diabetic or pancreatic phenotype was recorded for proband 2.
Fetal anomalies v0.247 CNOT1 Rebecca Foulger commented on gene: CNOT1: De Franco et al., 2019 (PMID:31006513) investigated a cohort of 107 individuals with pancreatic agenesis and definite/possible holoprosencephaly, and identified a heterozygous missense variant in CNOT1 (NM_016284.4; c.1603C>T (p.Arg535Cys)) in three unrelated individuals. The variant was de novo in two individuals, and was not present in the DNA sample from the third individual's father (maternal sample was unavailable). Mice required a homozygous variant to display a phenotype: in homozygous mice embryos (embryonically lethal) morphological abnormalities were apparent upon dissection including edema, a smaller dorsal pancreas, and exencephaly. The DDD study identified de novo CNOT1 variants in three individuals with developmental delay but none had holoprosencephaly, diabetes or pancreatic or neurological structural malformations. The authors therefore suggest that a mutation-specific mechanism rather than LOF is responsible for the pancreatic and holoprosencephaly phenotype.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.78 GNE Louise Daugherty Phenotypes for gene: GNE were changed from Nonaka myopathy, 605820; Distal myopathy; Limg girdle muscular dystrophy; Limb-girdle muscular dystrophy; quadriceps sparing myopathy; distal myopathy; Nonaka myopathy, HIBM to Nonaka myopathy, 605820; Distal myopathy; Limb girdle muscular dystrophy; Limb-girdle muscular dystrophy; quadriceps sparing myopathy; distal myopathy; Nonaka myopathy, HIBM
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.77 GNE Louise Daugherty Phenotypes for gene: GNE were changed from Nonaka myopathy, 605820; Distal myopathy; Limg girdle muscular dystrophy to Nonaka myopathy, 605820; Distal myopathy; Limg girdle muscular dystrophy; Limb-girdle muscular dystrophy; quadriceps sparing myopathy; distal myopathy; Nonaka myopathy, HIBM
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.76 GNE Louise Daugherty Mode of inheritance for gene: GNE was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.75 ANO5 Louise Daugherty Phenotypes for gene: ANO5 were changed from Gnathodiaphyseal dysplasia, 166260Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319; Limb-girdle muscular dystrophy; Limb-Girdle Muscular Dystrophy, Recessive; Limb-girdle muscular dystrophy to Gnathodiaphyseal dysplasia, 166260; Muscular dystrophy, limb-girdle, type 2L, 611307; Miyoshi muscular dystrophy 3, 613319; Limb-girdle muscular dystrophy; Limb-Girdle Muscular Dystrophy, Recessive; Limb-girdle muscular dystrophy
Fetal anomalies v0.247 CNOT1 Rebecca Foulger reviewed gene: CNOT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.74 BVES Louise Daugherty Phenotypes for gene: BVES were changed from Muscular dystrophy, limb-girdle, type 2X 616812 to Muscular dystrophy, limb-girdle, type 2X, 616812; limb girdle muscular dystrophy; cardiac arrhythmia
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.73 CHRND Louise Daugherty Phenotypes for gene: CHRND were changed from Myasthenic syndrome, congenital, 3A, slow-channel, 616321 to Myasthenic syndrome, congenital, 3A, slow-channel, 616321; Congenital myasthenic syndrome
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.72 RYR1 Louise Daugherty Phenotypes for gene: RYR1 were changed from Neuromuscular disease, congenital, with uniform type 1 fiber, 117000; Central core disease, 117000 to Neuromuscular disease, congenital, with uniform type 1 fiber, 117000; Central core disease, 117000; congenital myopathy; malignant hyperthermia
Fetal anomalies v0.246 CNOT1 Rebecca Foulger gene: CNOT1 was added
gene: CNOT1 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CNOT1 were set to 31006510; 31006513
Phenotypes for gene: CNOT1 were set to pancreatic agenesis and holoprosencephaly syndrome
Mode of pathogenicity for gene: CNOT1 was set to Other - please provide details in the comments
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.71 POGLUT1 Louise Daugherty Classified gene: POGLUT1 as Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.71 POGLUT1 Louise Daugherty Gene: poglut1 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.70 SELENON Louise Daugherty Phenotypes for gene: SELENON were changed from Muscular dystrophy, rigid spine, 1, 602771 to Muscular dystrophy, rigid spine, 1, 602771; congenital myopathy; muscular dystophy; rigid spine syndrome
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.69 NEB Louise Daugherty Phenotypes for gene: NEB were changed from Nemaline myopathy 2, autosomal recessive, 256030 to Nemaline myopathy 2, autosomal recessive, 256030; congenital myopathy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.68 POMK Louise Daugherty Phenotypes for gene: POMK were changed from ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249; mb girdle musuclar dystorphy; congenital muscular dystrophy to ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249; limb girdle muscular dystrophy; congenital muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.67 SYNE2 Louise Daugherty Mode of inheritance for gene: SYNE2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.66 DAG1 Louise Daugherty Phenotypes for gene: DAG1 were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818; Limb girdle muscular dystrophy; congenital muscular dystrophy to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818; Limb girdle muscular dystrophy; congenital muscular dystrophy; Limb-girdle muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.65 DAG1 Louise Daugherty Publications for gene: DAG1 were set to 21388311; 25503980; 25503980; 29036200; 21388311; 14678799
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.64 RAPSN Louise Daugherty Phenotypes for gene: RAPSN were changed from Fetal akinesia deformation sequence 1, 208150 to Fetal akinesia deformation sequence 1, 208150; Congenital myasthenic syndrome; Limb-girdle muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.63 RAPSN Louise Daugherty Publications for gene: RAPSN were set to 18179903
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.62 DNM2 Louise Daugherty Phenotypes for gene: DNM2 were changed from Centronuclear myopathy 1, 160150 to Centronuclear myopathy 1, 160150; Centronuclear myopathy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.61 COLQ Louise Daugherty Phenotypes for gene: COLQ were changed from Myasthenic syndrome, congenital, 5, 603034 to Myasthenic syndrome, congenital, 5, 603034; Congenital myasthenic syndrome
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.60 SCN4A Louise Daugherty Phenotypes for gene: SCN4A were changed from Hyperkalemic periodic paralysis, type 2, 170500 to Hyperkalemic periodic paralysis, type 2, 170500; Hyperkalemic periodic paralysis
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.59 LPIN1 Louise Daugherty Phenotypes for gene: LPIN1 were changed from Myoglobinuria, acute recurrent, autosomal recessive, 268200 to Myoglobinuria, acute recurrent, autosomal recessive, 268200; myoglobinuria; exercise induced myopathy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.58 LPIN1 Louise Daugherty Publications for gene: LPIN1 were set to 18817903
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.57 VMA21 Louise Daugherty Phenotypes for gene: VMA21 were changed from Myopathy, X-linked, with excessive autophagy, 310440 to Myopathy, X-linked, with excessive autophagy, 310440; X-Linked myopathy with excessive autophagy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.56 DPM3 Louise Daugherty Phenotypes for gene: DPM3 were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937; limb-girdle muscular dystrophy; dystroglycanopathy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.55 COL12A1 Louise Daugherty Phenotypes for gene: COL12A1 were changed from Ullrich congenital muscular dystrophy 2, 616470 to Ullrich congenital muscular dystrophy 2, 616470; Bethlem myopathy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.54 SMCHD1 Louise Daugherty Phenotypes for gene: SMCHD1 were changed from Fascioscapulohumeral muscular dystrophy 2, digenic 158901 to Fascioscapulohumeral muscular dystrophy 2, digenic 158901; fascioscapulohumeral muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.53 CPT2 Louise Daugherty Phenotypes for gene: CPT2 were changed from CPT II deficiency, infantile, 600649 to CPT II deficiency, infantile, 600649; metabolic myopathy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.52 GFPT1 Louise Daugherty Phenotypes for gene: GFPT1 were changed from Myasthenia, congenital, 12, with tubular aggregates, 610542 to Myasthenia, congenital, 12, with tubular aggregates, 610542; Congenital myasthenic syndrome
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.51 TNNT3 Louise Daugherty Phenotypes for gene: TNNT3 were changed from Arthrogryposis, distal, type 2B, 601680 to Arthrogryposis, distal, type 2B, 601680; Arthrogryposis
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.50 TPM3 Louise Daugherty Phenotypes for gene: TPM3 were changed from CAP myopathy 1, 609284; Nemaline myopathy 1, autosomal dominant or recessive, 609284 to CAP myopathy 1, 609284; Nemaline myopathy 1, autosomal dominant or recessive, 609284; Nemaline myopathy; congenital myopathy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.49 ACADVL Louise Daugherty Phenotypes for gene: ACADVL were changed from VLCAD deficiency, 201475 to VLCAD deficiency, 201475; metabolic myopathy; rhabdomyolsis
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.48 ACADVL Louise Daugherty Publications for gene: ACADVL were set to 7668252; 27246109
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.47 DOK7 Louise Daugherty Phenotypes for gene: DOK7 were changed from Fetal akinesia deformation sequence 1, 208150 to Fetal akinesia deformation sequence 1, 208150; Congenital myasthenic syndrome; Limb-girdle muscular dystrophy
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.74 SCARF2 Eleanor Williams Publications for gene: SCARF2 were set to
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.73 ADAMTSL4 Eleanor Williams Publications for gene: ADAMTSL4 were set to
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 AHDC1 Eleanor Williams Added phenotypes Xia-Gibbs syndrome 615829 for gene: AHDC1
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 HUWE1 Eleanor Williams Added phenotypes X-linked intellectual disability with CSS for gene: HUWE1
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 SCARF2 Eleanor Williams Added phenotypes Van den Ende-Gupta syndrome for gene: SCARF2
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 TCOF1 Eleanor Williams Added phenotypes Treacher-Collins syndrome for gene: TCOF1
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 NOG Eleanor Williams Added phenotypes Tarsal-carpal coalition syndrome; Stapes ankylosis with broad thumb and toes (Teunissen-Cremers syndrome); Brachydactyly type B2; Multiple synostosis syndrome; Symphalangism, proximal for gene: NOG
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 CHST3 Eleanor Williams Added phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations for gene: CHST3
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 GPC3 Eleanor Williams Added phenotypes Simpson-Golabi-Behmel syndrome for gene: GPC3
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 SKI Eleanor Williams Added phenotypes Shprintzen-Goldberg syndrome 182212 for gene: SKI
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 IFT140 Eleanor Williams Added phenotypes Short-rib thoracic dysplasia with or without polydactyly; asphyxiating thoracic dysplasia (ATD,Jeune) for gene: IFT140
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 ATR Eleanor Williams Added phenotypes Seckel syndrome 1 210600 for gene: ATR
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 ESCO2 Eleanor Williams Added phenotypes Roberts syndrome; SC phocomelia syndrome for gene: ESCO2
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 IGF1R Eleanor Williams Added phenotypes Resistance to insulin-like growth factor I for gene: IGF1R
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 CTSK Eleanor Williams Added phenotypes Pycnodysostosis 265800 for gene: CTSK
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 GNAS Eleanor Williams Added phenotypes pseudohypoparathyroidism type 1a 103580 for gene: GNAS
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 SOX10 Eleanor Williams Added phenotypes Hirschsprung disease; Waardenburg syndrome; Peripheral demyelinating neuropathy; central dysmyelination for gene: SOX10
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 SPECC1L Eleanor Williams Added phenotypes Opitz G/BBB syndrome type 2 for gene: SPECC1L
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 AXIN2 Eleanor Williams Added phenotypes Oligodontia-colorectal cancer syndrome 604025 for gene: AXIN2
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 SHOC2 Eleanor Williams Added phenotypes Noonan-like syndrome with loose anagen hair 607721 for gene: SHOC2
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 BRAF Eleanor Williams Added phenotypes cardiofaciocutaneous syndrome type 115150; Noonan syndrome type 7 613706 for gene: BRAF
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 KRAS Eleanor Williams Added phenotypes Noonan syndrome type 3 609942; cardiofaciocutaneous syndrome type 2 615278 for gene: KRAS
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 PTPN11 Eleanor Williams Added phenotypes Noonan syndrome type 1 - 163950; leopard syndrome 151100 for gene: PTPN11
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 SLC3A2 Eleanor Williams Added phenotypes no disorder assigned on OMIM - possible role in immune function based on mouse studies. for gene: SLC3A2
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 LMX1B Eleanor Williams Added phenotypes Nail-patella syndrome - LOF for gene: LMX1B
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 ARSB Eleanor Williams Added phenotypes Mucopolysaccharidosis VI (MPS6) 253200 for gene: ARSB
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 IDS Eleanor Williams Added phenotypes Mucopolysaccharidosis II (MPS2, Hunter syndrome) 309900 for gene: IDS
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 IDUA Eleanor Williams Added phenotypes Mucopolysaccharidosis Ih/s (Hurler syndrome) 607014; 607016 for gene: IDUA
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 GNPTAB Eleanor Williams Added phenotypes Mucolipidosis II alpha/beta(I cell disease) 252500 for gene: GNPTAB
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 ZEB2 Eleanor Williams Added phenotypes Mowat-Wilson syndrome 235730 for gene: ZEB2
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 BMP4 Eleanor Williams Added phenotypes orofacial cleft; Microphthalmia, syndromic type 6 607932 for gene: BMP4
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 COLEC10 Eleanor Williams Added phenotypes MC syndrome 3 248340 for gene: COLEC10
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 NFIX Eleanor Williams Added phenotypes Marshall-Smith syndrome for gene: NFIX
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 FBN1 Eleanor Williams Added phenotypes Marfan syndrome for gene: FBN1
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 TGFBR2 Eleanor Williams Added phenotypes Loeys-Dietz syndrome 2 610168 for gene: TGFBR2
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 TGFBR1 Eleanor Williams Added phenotypes Loeys-Dietz syndrome 1 609192 for gene: TGFBR1
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 FLNB Eleanor Williams Added phenotypes spondylo-carpel-tarsel dysplasia; Larsen syndrome (dominant); atelsteogenesis type 1/3 for gene: FLNB
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 KANSL1 Eleanor Williams gene: KANSL1 was added
gene: KANSL1 was added to Craniosynostosis. Sources:
Mode of inheritance for gene: KANSL1 was set to
Phenotypes for gene: KANSL1 were set to Koolen-de Vries/KANSL haploinsufficiency syndrome.
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 KAT6B Eleanor Williams Added phenotypes KAT6B-related disorders for gene: KAT6B
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 KDM6A Eleanor Williams Added phenotypes Kabuki syndrome 2 300867 for gene: KDM6A
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 KMT2D Eleanor Williams Added phenotypes Kabuki syndrome 147920 for gene: KMT2D
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 CEP120 Eleanor Williams Added phenotypes short rib thoracic dysplasia 13 +/- polydactyly; Joubert syndrome 31 for gene: CEP120
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 ABCC9 Eleanor Williams Added phenotypes hypertrichotic osteochondrodysplasia, Cantu syndrome 239850 for gene: ABCC9
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 STAT3 Eleanor Williams Added phenotypes Hyper IgE recurrent infection syndrome 147060 for gene: STAT3
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 EDNRB Eleanor Williams Added phenotypes Waardenburg syndrome; ABCD syndrome; Hirschprung disease for gene: EDNRB
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 CCBE1 Eleanor Williams Added phenotypes Hennekam-lymphangiectasia-lymphedema syndrome 1 235510 for gene: CCBE1
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 GLI3 Eleanor Williams Added phenotypes Greig cephalopolysyndactyly syndrome 175700 for gene: GLI3
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 ALX1 Eleanor Williams Added phenotypes Frontonasal dysplasia type 3 for gene: ALX1
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 ALX3 Eleanor Williams Added phenotypes Frontonasal dysplasia type 1 (frontorhiny) for gene: ALX3
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 SH3PXD2B Eleanor Williams Added phenotypes Borrone dermato-cardio-skeletal syndrome; Frank-ter-har 249420 for gene: SH3PXD2B
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 SLC25A24 Eleanor Williams Added phenotypes Fontaine progeroid syndrome 612289; Gorlin-Chaudhry-Moss for gene: SLC25A24
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 ADAMTSL4 Eleanor Williams Added phenotypes Ectopia lentis 225200/225100 for gene: ADAMTSL4
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 B3GAT3 Eleanor Williams Added phenotypes Craniosynostosis and bone fragility for gene: B3GAT3
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 ZIC1 Eleanor Williams Added phenotypes Craniosynostosis 6 616602 for gene: ZIC1
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 RUNX2 Eleanor Williams Added phenotypes Craniosynostosis for gene: RUNX2
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 EFNB1 Eleanor Williams Added phenotypes Craniofrontonasal syndrome 304110 for gene: EFNB1
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 PAX3 Eleanor Williams Added phenotypes Waardenburg syndrome; Craniofacial-deafness-hand syndrome for gene: PAX3
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 WDR19 Eleanor Williams Added phenotypes Cranioectodermal dysplasia type 4 614378 for gene: WDR19
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 IFT43 Eleanor Williams Added phenotypes Short-rib thoracic dysplasia 18 with polydactyly 617866; Cranioectodermal dysplasia type 3 614099 for gene: IFT43
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 WDR35 Eleanor Williams Added phenotypes Cranioectodermal dysplasia type 2 (Sensenbrenner syndrome) 613610 for gene: WDR35
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 IFT122 Eleanor Williams Added phenotypes Cranioectodermal dysplasia type 1 218330 for gene: IFT122
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 FGF3 Eleanor Williams Added phenotypes congenital deafness with inner ear agenesis, microtia and microdontia for gene: FGF3
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 SEC24D Eleanor Williams Added phenotypes Cole-Carpenter syndrome 2 for gene: SEC24D
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 P4HB Eleanor Williams Added phenotypes Cole-Carpenter syndrome 1 for gene: P4HB
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 CRTAP Eleanor Williams Added phenotypes Cole Carpenter for gene: CRTAP
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 IMPAD1 Eleanor Williams Added phenotypes Chondrodysplasia with joint dislocations, GPAPP type for gene: IMPAD1
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 TMCO1 Eleanor Williams Added phenotypes MR syndrome; Cerebrofaciothoracic dysplasia/ craniofacial dysmorphism; skeletal anomalies for gene: TMCO1
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 RAB23 Eleanor Williams Added phenotypes Carpenter syndrome 201000 for gene: RAB23
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 MEGF8 Eleanor Williams Added phenotypes Carpenter 2 614976 for gene: MEGF8
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 CD96 Eleanor Williams Added phenotypes C syndrome for gene: CD96
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 FREM1 Eleanor Williams Added phenotypes Manitoba oculotrichoanal syndrome; bifid nose; trigonocephaly for gene: FREM1
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 BBS9 Eleanor Williams Added phenotypes Bardet-Biedl syndrome 9 615986 for gene: BBS9
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 RECQL4 Eleanor Williams Added phenotypes Baller-Gerold syndrome 218600 for gene: RECQL4
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 OSTM1 Eleanor Williams Added phenotypes AR osteopetrosis 5 for gene: OSTM1
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 POR Eleanor Williams Added phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750 for gene: POR
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 JAG1 Eleanor Williams Added phenotypes Alagille syndrome for gene: JAG1
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 TLK2 Eleanor Williams Added phenotypes AD MR type 57 - 618050 for gene: TLK2
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 IHH Eleanor Williams Added phenotypes chr2q35dup syndrome 185900; Acrocapitofermoral dysplasia 607778; bracydactyly type A1 112500 for gene: IHH
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 TWIST2 Eleanor Williams Added phenotypes Focal facial dermal dysplasia 3, Setleis type; Barber-Say syndrome; Ablepharon-macrostomia syndrome for gene: TWIST2
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 COLEC11 Eleanor Williams Added phenotypes 3MC syndrome 2 265050 for gene: COLEC11
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 MASP1 Eleanor Williams Added phenotypes 3MC syndrome 1 257920 for gene: MASP1
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.71 TLK2 Eleanor Williams Added comment: Comment on publications: https://doi.org/10.1016/j.ajhg.2018.04.014 is PMID: 29861108
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.71 TLK2 Eleanor Williams Publications for gene: TLK2 were set to 27479843; https://doi.org/10.1016/j.ajhg.2018.04.014
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.70 ALPL Eleanor Williams Added comment: Comment on publications: Collmann et al is PMID:18769927
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.70 ALPL Eleanor Williams Publications for gene: ALPL were set to 19232125
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.69 CRTAP Eleanor Williams Publications for gene: CRTAP were set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 DOK7 Chiara Marini Bettolo commented on gene: DOK7: overlap phenotype with LGMD
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 ACADVL Chiara Marini Bettolo commented on gene: ACADVL: overlap phenotype with LGMD
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 TPM3 Chiara Marini Bettolo reviewed gene: TPM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7704029, 10619715; Phenotypes: Nemaline myopathy, congenital myopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 TNNT3 Chiara Marini Bettolo reviewed gene: TNNT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 12592607, 12865991; Phenotypes: Arthrogryposis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 PYGM Chiara Marini Bettolo reviewed gene: PYGM: Rating: GREEN; Mode of pathogenicity: None; Publications: 8316268, 12666117; Phenotypes: McArdle disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 GFPT1 Chiara Marini Bettolo reviewed gene: GFPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21310273; Phenotypes: Congenital myasthenic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 CPT2 Chiara Marini Bettolo reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 1528846, 8651281; Phenotypes: metabolic myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 SMCHD1 Chiara Marini Bettolo commented on gene: SMCHD1: overlap LGMD phenotype
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 LIMS2 Chiara Marini Bettolo reviewed gene: LIMS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25589244; Phenotypes: limb girdle muscular dystrophy, cardiomyopathy, triangular tongue; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 LAMP2 Chiara Marini Bettolo reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10972294; Phenotypes: Danon disease; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 COL12A1 Chiara Marini Bettolo reviewed gene: COL12A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24334604; Phenotypes: Bethlem myopathy, Ullrich congenital muscular dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 DPM3 Chiara Marini Bettolo reviewed gene: DPM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19576565, 28803818; Phenotypes: limb-girdle muscular dystrophy, dystroglycanopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 ACADVL Chiara Marini Bettolo commented on gene: ACADVL: 1) severe neonatal/early-childhood onset form presenting with cardiomyopathy, hepatic disease and hypotonia with high mortality in infancy, 2) milder childhood onset form with hypoketotic hypoglycaemia, hypotonia with or without hepatic disease and 3) adult-onset form presenting with exercise intolerance, muscle cramps and rhabdomyolisis
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 ACADVL Chiara Marini Bettolo edited their review of gene: ACADVL: Changed publications: 7668252, 27246109, 25929793; Changed phenotypes: metabolic myopathy, rhabdomyolsis
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 VMA21 Chiara Marini Bettolo edited their review of gene: VMA21: Changed rating: RED
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 VMA21 Chiara Marini Bettolo reviewed gene: VMA21: Rating: GREEN; Mode of pathogenicity: None; Publications: 23315026, 19379691; Phenotypes: X-Linked myopathy with excessive autophagy; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 LPIN1 Chiara Marini Bettolo reviewed gene: LPIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22481384, 18817903; Phenotypes: myoglobinuria, exercise induced myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 SCN4A Chiara Marini Bettolo reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 1651050, 1659948; Phenotypes: Hyperkalemic periodic paralysis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 COLQ Chiara Marini Bettolo reviewed gene: COLQ: Rating: GREEN; Mode of pathogenicity: None; Publications: 9689136; Phenotypes: Congenital myasthenic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 DNM2 Chiara Marini Bettolo reviewed gene: DNM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17932957; Phenotypes: Centronuclear myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 RAPSN Chiara Marini Bettolo reviewed gene: RAPSN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25792100; Phenotypes: Congenital myasthenic syndrome, Limb-girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 DAG1 Chiara Marini Bettolo reviewed gene: DAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14678799, 21388311, 30055862; Phenotypes: Limb-girdle muscular dystrophy; Mode of inheritance: None
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 SYNE2 Chiara Marini Bettolo reviewed gene: SYNE2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17761684, 19542096; Phenotypes: Emery Dreifuss muscular dystrophy, congenital muscular dystrophy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 ISPD Chiara Marini Bettolo reviewed gene: ISPD: Rating: ; Mode of pathogenicity: None; Publications: 23390185; Phenotypes: congenital muscular dystrophy, limb girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 POMK Chiara Marini Bettolo reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: None; Publications: 24925318; Phenotypes: Limb-girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 POMGNT2 Chiara Marini Bettolo reviewed gene: POMGNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27066570; Phenotypes: Limb-girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 NEB Chiara Marini Bettolo reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: None; Publications: 9359044, 12207937; Phenotypes: congenital myopathy, nemaline myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 SELENON Chiara Marini Bettolo reviewed gene: SELENON: Rating: GREEN; Mode of pathogenicity: None; Publications: 11528383, 15122708; Phenotypes: congenital myopathy, muscular dystophy, rigid spine syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 POGLUT1 Chiara Marini Bettolo gene: POGLUT1 was added
gene: POGLUT1 was added to Limb girdle muscular dystrophy. Sources: Expert list
Mode of inheritance for gene: POGLUT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POGLUT1 were set to 27807076
Phenotypes for gene: POGLUT1 were set to Limb-girdle muscular dystrophy
Review for gene: POGLUT1 was set to GREEN
Added comment: Sources: Expert list
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 RYR1 Chiara Marini Bettolo edited their review of gene: RYR1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 CLCN1 Chiara Marini Bettolo reviewed gene: CLCN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7981750, 8112288; Phenotypes: Myotonia congenita; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 CHRND Chiara Marini Bettolo reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: None; Publications: 11782989; Phenotypes: Congenital myasthenic syndrome; Mode of inheritance: None
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 BVES Chiara Marini Bettolo reviewed gene: BVES: Rating: GREEN; Mode of pathogenicity: None; Publications: 26642364; Phenotypes: limb girdle muscular dystrophy, cardiac arrhythmia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 ATP2A1 Chiara Marini Bettolo reviewed gene: ATP2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8841193; Phenotypes: Brody myopathy, 9367679; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 AGL Chiara Marini Bettolo reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 8755644, 8990006; Phenotypes: Glycogen storage disease IIIb, Glycogen storage disease IIIc; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 ACTA1 Chiara Marini Bettolo reviewed gene: ACTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25938801; Phenotypes: congenital myopathy, scapuloperoneal myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 ANO5 Chiara Marini Bettolo reviewed gene: ANO5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Limb-girdle muscular dystrophy 2L; Mode of inheritance: None; Current diagnostic: yes
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 ACADVL Chiara Marini Bettolo reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: None; Publications: 7668252, 27246109; Phenotypes: metabolic myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.187 UQCRQ Ellen McDonagh Classified gene: UQCRQ as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.187 UQCRQ Ellen McDonagh Added comment: Comment on list classification: Demoted from Green to Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.187 UQCRQ Ellen McDonagh Gene: uqcrq has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.186 SDHB Ellen McDonagh Classified gene: SDHB as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.186 SDHB Ellen McDonagh Added comment: Comment on list classification: Demoted from Green to Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.186 SDHB Ellen McDonagh Gene: sdhb has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.185 SDHD Ellen McDonagh Marked gene: SDHD as ready
Possible mitochondrial disorder - nuclear genes v0.185 SDHD Ellen McDonagh Gene: sdhd has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.185 SDHAF1 Ellen McDonagh Marked gene: SDHAF1 as ready
Possible mitochondrial disorder - nuclear genes v0.185 SDHAF1 Ellen McDonagh Gene: sdhaf1 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.185 SLC25A22 Ellen McDonagh Marked gene: SLC25A22 as ready
Possible mitochondrial disorder - nuclear genes v0.185 SLC25A22 Ellen McDonagh Gene: slc25a22 has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 RYR1 Chiara Marini Bettolo reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8220422, 8220423; Phenotypes: congenital myopathy, Central core disease, malignant hyperthermia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.185 SLC25A22 Ellen McDonagh Classified gene: SLC25A22 as Red List (low evidence)
Possible mitochondrial disorder - nuclear genes v0.185 SLC25A22 Ellen McDonagh Added comment: Comment on list classification: Demoted from Green to Red due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.185 SLC25A22 Ellen McDonagh Gene: slc25a22 has been classified as Red List (Low Evidence).
Possible mitochondrial disorder - nuclear genes v0.184 POLRMT Ellen McDonagh Classified gene: POLRMT as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.184 POLRMT Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber.
Possible mitochondrial disorder - nuclear genes v0.184 POLRMT Ellen McDonagh Gene: polrmt has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.183 POLRMT Ellen McDonagh Mode of inheritance for gene: POLRMT was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.182 UQCRB Ellen McDonagh Marked gene: UQCRB as ready
Possible mitochondrial disorder - nuclear genes v0.182 UQCRB Ellen McDonagh Gene: uqcrb has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.182 UQCRB Ellen McDonagh Publications for gene: UQCRB were set to
Possible mitochondrial disorder - nuclear genes v0.181 UQCRB Ellen McDonagh Classified gene: UQCRB as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.181 UQCRB Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. Two unrelated cases reported (both with deletions) and supporting functional evidence.
Possible mitochondrial disorder - nuclear genes v0.181 UQCRB Ellen McDonagh Gene: uqcrb has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 MYH7 Chiara Marini Bettolo reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: None; Publications: 15322983; Phenotypes: Laing distal myopathy, cardiomyopathy, distal myopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pancreatitis v1.8 KRT8 Ivone Leong Added comment: Comment on publications: PMID: 29173301 refers to Xiao et al J Pediatr. 2017 Dec;191:158-163.
PMID: 27264265 refers to Sofia et al Mol Med. 2016 Sep;22:300-309.
Pancreatitis v1.8 KRT8 Ivone Leong Publications for gene: KRT8 were set to
Possible mitochondrial disorder - nuclear genes v0.180 UQCC2 Ellen McDonagh Marked gene: UQCC2 as ready
Possible mitochondrial disorder - nuclear genes v0.180 UQCC2 Ellen McDonagh Gene: uqcc2 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.180 UQCC2 Ellen McDonagh Publications for gene: UQCC2 were set to
Possible mitochondrial disorder - nuclear genes v0.179 UQCC2 Ellen McDonagh Classified gene: UQCC2 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.179 UQCC2 Ellen McDonagh Added comment: Comment on list classification: his gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. Two unrelated cases reported, with functional supporting evidence.
Possible mitochondrial disorder - nuclear genes v0.179 UQCC2 Ellen McDonagh Gene: uqcc2 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.178 TRMT10C Ellen McDonagh Marked gene: TRMT10C as ready
Possible mitochondrial disorder - nuclear genes v0.178 TRMT10C Ellen McDonagh Gene: trmt10c has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.178 TRMT10C Ellen McDonagh Classified gene: TRMT10C as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.178 TRMT10C Ellen McDonagh Gene: trmt10c has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 SMCHD1 Chiara Marini Bettolo reviewed gene: SMCHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: fascioscapulohumeral muscular dystrophy; Mode of inheritance: Other
Possible mitochondrial disorder - nuclear genes v0.177 TRMT10C Ellen McDonagh Classified gene: TRMT10C as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.177 TRMT10C Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.177 TRMT10C Ellen McDonagh Gene: trmt10c has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 TTN Chiara Marini Bettolo reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Limb-girdle muscular dystrophy, distal myopathy, HMERF, dilated cardiomyopathy, arthrogryposis, myofibrillar myopathy; Mode of inheritance: None; Current diagnostic: yes
Possible mitochondrial disorder - nuclear genes v0.176 TRMT10C Ellen McDonagh Publications for gene: TRMT10C were set to
Possible mitochondrial disorder - nuclear genes v0.175 TOP3A Ellen McDonagh Marked gene: TOP3A as ready
Possible mitochondrial disorder - nuclear genes v0.175 TOP3A Ellen McDonagh Gene: top3a has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.175 TOP3A Ellen McDonagh Classified gene: TOP3A as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.175 TOP3A Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.175 TOP3A Ellen McDonagh Gene: top3a has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.174 TIMM44 Ellen McDonagh Marked gene: TIMM44 as ready
Possible mitochondrial disorder - nuclear genes v0.174 TIMM44 Ellen McDonagh Gene: timm44 has been classified as Red List (Low Evidence).
Possible mitochondrial disorder - nuclear genes v0.174 TIMM44 Ellen McDonagh Classified gene: TIMM44 as Red List (low evidence)
Possible mitochondrial disorder - nuclear genes v0.174 TIMM44 Ellen McDonagh Gene: timm44 has been classified as Red List (Low Evidence).
Possible mitochondrial disorder - nuclear genes v0.173 TIMM44 Ellen McDonagh Classified gene: TIMM44 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.173 TIMM44 Ellen McDonagh Added comment: Comment on list classification: This gene was demoted from Amber to Red due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.173 TIMM44 Ellen McDonagh Gene: timm44 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.172 SLC25A32 Ellen McDonagh Classified gene: SLC25A32 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.172 SLC25A32 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.172 SLC25A32 Ellen McDonagh Gene: slc25a32 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.171 SLC25A32 Ellen McDonagh commented on gene: SLC25A32
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 LAMA2 Chiara Marini Bettolo reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7550355, 12552556; Phenotypes: congenital muscular dystrophy, merosin deficient or partially deficient; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.171 SLC25A32 Ellen McDonagh Tag treatable tag was added to gene: SLC25A32.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 MATR3 Chiara Marini Bettolo reviewed gene: MATR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19344878; Phenotypes: ALS, myofibrillar myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Possible mitochondrial disorder - nuclear genes v0.171 SLC25A32 Ellen McDonagh Publications for gene: SLC25A32 were set to
Possible mitochondrial disorder - nuclear genes v0.170 SFXN4 Ellen McDonagh Marked gene: SFXN4 as ready
Possible mitochondrial disorder - nuclear genes v0.170 SFXN4 Ellen McDonagh Gene: sfxn4 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.170 SFXN4 Ellen McDonagh Classified gene: SFXN4 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.170 SFXN4 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. PMID: 24119684 describes 2 unrelated patients with different variants in this gene, and a knockdown zebrafish model with global mitochondrial and respiratory chain defects.
Possible mitochondrial disorder - nuclear genes v0.170 SFXN4 Ellen McDonagh Gene: sfxn4 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.169 PNPLA8 Ellen McDonagh Marked gene: PNPLA8 as ready
Possible mitochondrial disorder - nuclear genes v0.169 PNPLA8 Ellen McDonagh Gene: pnpla8 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.169 PNPLA8 Ellen McDonagh Classified gene: PNPLA8 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.169 PNPLA8 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.169 PNPLA8 Ellen McDonagh Gene: pnpla8 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.168 PMPCB Ellen McDonagh Classified gene: PMPCB as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.168 PMPCB Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.168 PMPCB Ellen McDonagh Gene: pmpcb has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.167 PMPCB Ellen McDonagh Phenotypes for gene: PMPCB were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6, 617954 to Multiple mitochondrial dysfunctions syndrome 6, 617954
Possible mitochondrial disorder - nuclear genes v0.166 PMPCB Ellen McDonagh Publications for gene: PMPCB were set to
Possible mitochondrial disorder - nuclear genes v0.165 NNT Ellen McDonagh Marked gene: NNT as ready
Possible mitochondrial disorder - nuclear genes v0.165 NNT Ellen McDonagh Gene: nnt has been classified as Red List (Low Evidence).
Possible mitochondrial disorder - nuclear genes v0.165 NNT Ellen McDonagh Publications for gene: NNT were set to
Possible mitochondrial disorder - nuclear genes v0.164 NNT Ellen McDonagh Classified gene: NNT as Red List (low evidence)
Possible mitochondrial disorder - nuclear genes v0.164 NNT Ellen McDonagh Added comment: Comment on list classification: This gene was demoted from Amber to Red, due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.164 NNT Ellen McDonagh Gene: nnt has been classified as Red List (Low Evidence).
Possible mitochondrial disorder - nuclear genes v0.163 NDUFB8 Ellen McDonagh Marked gene: NDUFB8 as ready
Possible mitochondrial disorder - nuclear genes v0.163 NDUFB8 Ellen McDonagh Gene: ndufb8 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.163 NDUFB8 Ellen McDonagh Publications for gene: NDUFB8 were set to
Possible mitochondrial disorder - nuclear genes v0.162 NDUFB8 Ellen McDonagh Classified gene: NDUFB8 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.162 NDUFB8 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.162 NDUFB8 Ellen McDonagh Gene: ndufb8 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 DES Chiara Marini Bettolo reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: None; Publications: 11073539, 19433360, 10545598; Phenotypes: myofibrillar myopathy, cardiomyopathy, limb girdle muscular dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Possible mitochondrial disorder - nuclear genes v0.161 NDUFAF8 Ellen McDonagh Marked gene: NDUFAF8 as ready
Possible mitochondrial disorder - nuclear genes v0.161 NDUFAF8 Ellen McDonagh Gene: ndufaf8 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.161 NDUFAF8 Ellen McDonagh Classified gene: NDUFAF8 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.161 NDUFAF8 Ellen McDonagh Added comment: Comment on list classification: Promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.161 NDUFAF8 Ellen McDonagh Gene: ndufaf8 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.160 NDUFA9 Ellen McDonagh Marked gene: NDUFA9 as ready
Possible mitochondrial disorder - nuclear genes v0.160 NDUFA9 Ellen McDonagh Gene: ndufa9 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.160 NDUFA9 Ellen McDonagh Publications for gene: NDUFA9 were set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 HNRNPDL Chiara Marini Bettolo reviewed gene: HNRNPDL: Rating: GREEN; Mode of pathogenicity: None; Publications: 30055862, 24647604, 15367920; Phenotypes: Limb-girdle muscular dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Possible mitochondrial disorder - nuclear genes v0.159 NDUFA9 Ellen McDonagh Classified gene: NDUFA9 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.159 NDUFA9 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. Two unrelated families, with functional evidence.
Possible mitochondrial disorder - nuclear genes v0.159 NDUFA9 Ellen McDonagh Gene: ndufa9 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.158 NDUFA6 Ellen McDonagh Marked gene: NDUFA6 as ready
Possible mitochondrial disorder - nuclear genes v0.158 NDUFA6 Ellen McDonagh Gene: ndufa6 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.158 NDUFA6 Ellen McDonagh Publications for gene: NDUFA6 were set to
Possible mitochondrial disorder - nuclear genes v0.157 NDUFA6 Ellen McDonagh Classified gene: NDUFA6 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.157 NDUFA6 Ellen McDonagh Added comment: Comment on list classification: This gene has been promoted to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. PMID: 30245030 reports four unrelated children who presented with neuroradiological findings and/or elevated lactate levels, with biallelic variants in this gene, plus functional studies.
Possible mitochondrial disorder - nuclear genes v0.157 NDUFA6 Ellen McDonagh Gene: ndufa6 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 CRYAB Chiara Marini Bettolo reviewed gene: CRYAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 11577372; Phenotypes: myofibrillar myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Possible mitochondrial disorder - nuclear genes v0.156 NDUFA4 Ellen McDonagh Classified gene: NDUFA4 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.156 NDUFA4 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.156 NDUFA4 Ellen McDonagh Gene: ndufa4 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 BAG3 Chiara Marini Bettolo reviewed gene: BAG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19085932, 20605452; Phenotypes: Myopathy, myofibrillar, 6, 612954; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Possible mitochondrial disorder - nuclear genes v0.155 MSTO1 Ellen McDonagh Marked gene: MSTO1 as ready
Possible mitochondrial disorder - nuclear genes v0.155 MSTO1 Ellen McDonagh Gene: msto1 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.155 MSTO1 Ellen McDonagh Classified gene: MSTO1 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.155 MSTO1 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.155 MSTO1 Ellen McDonagh Gene: msto1 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.154 MSTO1 Ellen McDonagh Publications for gene: MSTO1 were set to
Possible mitochondrial disorder - nuclear genes v0.153 MRPS2 Ellen McDonagh Marked gene: MRPS2 as ready
Possible mitochondrial disorder - nuclear genes v0.153 MRPS2 Ellen McDonagh Gene: mrps2 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.153 MRPS2 Ellen McDonagh Classified gene: MRPS2 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.153 MRPS2 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.153 MRPS2 Ellen McDonagh Gene: mrps2 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 GNE Chiara Marini Bettolo reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: None; Publications: 22883483; Phenotypes: Limb-girdle muscular dystrophy, quadriceps sparing myopathy, distal myopathy, Nonaka myopathy, HIBM; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Possible mitochondrial disorder - nuclear genes v0.152 MRPL3 Ellen McDonagh Marked gene: MRPL3 as ready
Possible mitochondrial disorder - nuclear genes v0.152 MRPL3 Ellen McDonagh Gene: mrpl3 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 DOK7 Chiara Marini Bettolo edited their review of gene: DOK7: Changed phenotypes: Congenital myasthenic syndrome, Limb-girdle muscular dystrophy
Possible mitochondrial disorder - nuclear genes v0.152 MRPL3 Ellen McDonagh Classified gene: MRPL3 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.152 MRPL3 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.152 MRPL3 Ellen McDonagh Gene: mrpl3 has been classified as Green List (High Evidence).
Pancreatitis v1.7 KRT8 Miranda Durkie commented on gene: KRT8
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 DOK7 Chiara Marini Bettolo reviewed gene: DOK7: Rating: GREEN; Mode of pathogenicity: None; Publications: 19261599; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.151 FDX2 Ellen McDonagh Marked gene: FDX2 as ready
Possible mitochondrial disorder - nuclear genes v0.151 FDX2 Ellen McDonagh Gene: fdx2 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.151 FDX2 Ellen McDonagh Classified gene: FDX2 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.151 FDX2 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.151 FDX2 Ellen McDonagh Gene: fdx2 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.150 DNM2 Ellen McDonagh Marked gene: DNM2 as ready
Possible mitochondrial disorder - nuclear genes v0.150 DNM2 Ellen McDonagh Gene: dnm2 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.150 DNM2 Ellen McDonagh Publications for gene: DNM2 were set to 25492887, 25492887 (abstract)
Possible mitochondrial disorder - nuclear genes v0.149 DNM2 Ellen McDonagh Classified gene: DNM2 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.149 DNM2 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.149 DNM2 Ellen McDonagh Gene: dnm2 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.148 COX5B Ellen McDonagh Marked gene: COX5B as ready
Possible mitochondrial disorder - nuclear genes v0.148 COX5B Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.148 COX5B Ellen McDonagh Gene: cox5b has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.148 COX5A Ellen McDonagh Marked gene: COX5A as ready
Possible mitochondrial disorder - nuclear genes v0.148 COX5A Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.148 COX5A Ellen McDonagh Gene: cox5a has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.148 COX4I2 Ellen McDonagh Marked gene: COX4I2 as ready
Possible mitochondrial disorder - nuclear genes v0.148 COX4I2 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.148 COX4I2 Ellen McDonagh Gene: cox4i2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.148 COX4I1 Ellen McDonagh Marked gene: COX4I1 as ready
Possible mitochondrial disorder - nuclear genes v0.148 COX4I1 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.148 COX4I1 Ellen McDonagh Gene: cox4i1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.148 COX19 Ellen McDonagh Marked gene: COX19 as ready
Possible mitochondrial disorder - nuclear genes v0.148 COX19 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.148 COX19 Ellen McDonagh Gene: cox19 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.148 COX18 Ellen McDonagh Marked gene: COX18 as ready
Possible mitochondrial disorder - nuclear genes v0.148 COX18 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.148 COX18 Ellen McDonagh Gene: cox18 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.148 COX17 Ellen McDonagh Marked gene: COX17 as ready
Possible mitochondrial disorder - nuclear genes v0.148 COX17 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.148 COX17 Ellen McDonagh Gene: cox17 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.148 COX16 Ellen McDonagh Marked gene: COX16 as ready
Possible mitochondrial disorder - nuclear genes v0.148 COX16 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.148 COX16 Ellen McDonagh Gene: cox16 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.148 COX11 Ellen McDonagh Marked gene: COX11 as ready
Possible mitochondrial disorder - nuclear genes v0.148 COX11 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.148 COX11 Ellen McDonagh Gene: cox11 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.148 COQ7 Ellen McDonagh Marked gene: COQ7 as ready
Possible mitochondrial disorder - nuclear genes v0.148 COQ7 Ellen McDonagh Gene: coq7 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.148 COQ7 Ellen McDonagh Classified gene: COQ7 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.148 COQ7 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. Three unrelated patients reported, with different variants causing amino acid changes.
Possible mitochondrial disorder - nuclear genes v0.148 COQ7 Ellen McDonagh Gene: coq7 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.147 COQ7 Ellen McDonagh Publications for gene: COQ7 were set to 28409910
Possible mitochondrial disorder - nuclear genes v0.146 COQ5 Ellen McDonagh Marked gene: COQ5 as ready
Possible mitochondrial disorder - nuclear genes v0.146 COQ5 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.146 COQ5 Ellen McDonagh Gene: coq5 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.146 COA7 Ellen McDonagh Marked gene: COA7 as ready
Possible mitochondrial disorder - nuclear genes v0.146 COA7 Ellen McDonagh Gene: coa7 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.146 COA7 Ellen McDonagh Phenotypes for gene: COA7 were changed from ?Mitochondrial complex IV deficiency, 220110 to ?Mitochondrial complex IV deficiency, 220110; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387
Possible mitochondrial disorder - nuclear genes v0.145 COA7 Ellen McDonagh Publications for gene: COA7 were set to
Possible mitochondrial disorder - nuclear genes v0.144 COA7 Ellen McDonagh Classified gene: COA7 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.144 COA7 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.144 COA7 Ellen McDonagh Gene: coa7 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.143 COA6 Ellen McDonagh Marked gene: COA6 as ready
Possible mitochondrial disorder - nuclear genes v0.143 COA6 Ellen McDonagh Gene: coa6 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.143 COA6 Ellen McDonagh Publications for gene: COA6 were set to
Childhood onset hereditary spastic paraplegia v1.74 ZFYVE27 Nick Beauchamp reviewed gene: ZFYVE27: Rating: RED; Mode of pathogenicity: None; Publications: 16826525, 22554690, 29980238; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 ZFYVE27 Nick Beauchamp reviewed gene: ZFYVE27: Rating: RED; Mode of pathogenicity: None; Publications: 16826525, 22554690, 29980238; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Possible mitochondrial disorder - nuclear genes v0.142 COA6 Ellen McDonagh Classified gene: COA6 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.142 COA6 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. Two unrelated cases (with different variants) reported, with supporting functional evidence including a knockout zebrafish model.
Possible mitochondrial disorder - nuclear genes v0.142 COA6 Ellen McDonagh Gene: coa6 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.141 COA5 Ellen McDonagh Marked gene: COA5 as ready
Possible mitochondrial disorder - nuclear genes v0.141 COA5 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.141 COA5 Ellen McDonagh Gene: coa5 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.141 COA5 Ellen McDonagh Publications for gene: COA5 were set to
Possible mitochondrial disorder - nuclear genes v0.140 COA4 Ellen McDonagh Marked gene: COA4 as ready
Possible mitochondrial disorder - nuclear genes v0.140 COA4 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.140 COA4 Ellen McDonagh Gene: coa4 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.140 COA3 Ellen McDonagh Marked gene: COA3 as ready
Possible mitochondrial disorder - nuclear genes v0.140 COA3 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.140 COA3 Ellen McDonagh Gene: coa3 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.140 COA1 Ellen McDonagh Marked gene: COA1 as ready
Possible mitochondrial disorder - nuclear genes v0.140 COA1 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.140 COA1 Ellen McDonagh Gene: coa1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.140 CEP89 Ellen McDonagh Marked gene: CEP89 as ready
Possible mitochondrial disorder - nuclear genes v0.140 CEP89 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.140 CEP89 Ellen McDonagh Gene: cep89 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.140 CA5A Ellen McDonagh Marked gene: CA5A as ready
Possible mitochondrial disorder - nuclear genes v0.140 CA5A Ellen McDonagh Gene: ca5a has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.140 CA5A Ellen McDonagh Classified gene: CA5A as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.140 CA5A Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.140 CA5A Ellen McDonagh Gene: ca5a has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.139 CA5A Ellen McDonagh Publications for gene: CA5A were set to
Possible mitochondrial disorder - nuclear genes v0.138 C19orf70 Ellen McDonagh Marked gene: C19orf70 as ready
Possible mitochondrial disorder - nuclear genes v0.138 C19orf70 Ellen McDonagh Gene: c19orf70 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.138 C19orf70 Ellen McDonagh Classified gene: C19orf70 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.138 C19orf70 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.138 C19orf70 Ellen McDonagh Gene: c19orf70 has been classified as Green List (High Evidence).
Adult onset hereditary spastic paraplegia v0.53 ZEB2 Nick Beauchamp reviewed gene: ZEB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset hereditary spastic paraplegia v1.74 ZEB2 Nick Beauchamp reviewed gene: ZEB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Possible mitochondrial disorder - nuclear genes v0.137 ATPAF1 Ellen McDonagh Marked gene: ATPAF1 as ready
Possible mitochondrial disorder - nuclear genes v0.137 ATPAF1 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.137 ATPAF1 Ellen McDonagh Gene: atpaf1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.137 ATP5O Ellen McDonagh Marked gene: ATP5O as ready
Possible mitochondrial disorder - nuclear genes v0.137 ATP5O Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.137 ATP5O Ellen McDonagh Gene: atp5o has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy v1.80 VRK1 Alexander Rossor gene: VRK1 was added
gene: VRK1 was added to Hereditary neuropathy. Sources: Expert list
Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VRK1 were set to 30847374
Phenotypes for gene: VRK1 were set to Distal hereditary motor neuropathy
Penetrance for gene: VRK1 were set to Complete
Review for gene: VRK1 was set to GREEN
Added comment: Reported in at least 2 published and mor eunpublished cases
Sources: Expert list
Possible mitochondrial disorder - nuclear genes v0.137 ATP5L2 Ellen McDonagh Marked gene: ATP5L2 as ready
Possible mitochondrial disorder - nuclear genes v0.137 ATP5L2 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.137 ATP5L2 Ellen McDonagh Gene: atp5l2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.137 ATP5L Ellen McDonagh Marked gene: ATP5L as ready
Possible mitochondrial disorder - nuclear genes v0.137 ATP5L Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.137 ATP5L Ellen McDonagh Gene: atp5l has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.137 ATP5J2 Ellen McDonagh Marked gene: ATP5J2 as ready
Possible mitochondrial disorder - nuclear genes v0.137 ATP5J2 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.137 ATP5J2 Ellen McDonagh Gene: atp5j2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.137 ATP5J Ellen McDonagh Marked gene: ATP5J as ready
Possible mitochondrial disorder - nuclear genes v0.137 ATP5J Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.137 ATP5J Ellen McDonagh Gene: atp5j has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.137 ATP5I Ellen McDonagh Marked gene: ATP5I as ready
Possible mitochondrial disorder - nuclear genes v0.137 ATP5I Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.137 ATP5I Ellen McDonagh Gene: atp5i has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.137 ATP5H Ellen McDonagh Marked gene: ATP5H as ready
Possible mitochondrial disorder - nuclear genes v0.137 ATP5H Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.137 ATP5H Ellen McDonagh Gene: atp5h has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.137 ATP5G3 Ellen McDonagh Marked gene: ATP5G3 as ready
Possible mitochondrial disorder - nuclear genes v0.137 ATP5G3 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.137 ATP5G3 Ellen McDonagh Gene: atp5g3 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.137 ATP5G2 Ellen McDonagh Marked gene: ATP5G2 as ready
Possible mitochondrial disorder - nuclear genes v0.137 ATP5G2 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.137 ATP5G2 Ellen McDonagh Gene: atp5g2 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.74 USP8 Nick Beauchamp reviewed gene: USP8: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 USP8 Nick Beauchamp reviewed gene: USP8: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Possible mitochondrial disorder - nuclear genes v0.137 ATP5G1 Ellen McDonagh Marked gene: ATP5G1 as ready
Possible mitochondrial disorder - nuclear genes v0.137 ATP5G1 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.137 ATP5G1 Ellen McDonagh Gene: atp5g1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.137 ATP5F1 Ellen McDonagh Marked gene: ATP5F1 as ready
Possible mitochondrial disorder - nuclear genes v0.137 ATP5F1 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.137 ATP5F1 Ellen McDonagh Gene: atp5f1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.137 ATP5E Ellen McDonagh Marked gene: ATP5E as ready
Possible mitochondrial disorder - nuclear genes v0.137 ATP5E Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.137 ATP5E Ellen McDonagh Gene: atp5e has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.137 ATP5E Ellen McDonagh Publications for gene: ATP5E were set to
Possible mitochondrial disorder - nuclear genes v0.136 ATP5D Ellen McDonagh Marked gene: ATP5D as ready
Possible mitochondrial disorder - nuclear genes v0.136 ATP5D Ellen McDonagh Gene: atp5d has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.136 ATP5D Ellen McDonagh Classified gene: ATP5D as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.136 ATP5D Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.136 ATP5D Ellen McDonagh Gene: atp5d has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.74 RAB3GAP2 Nick Beauchamp reviewed gene: RAB3GAP2: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Possible mitochondrial disorder - nuclear genes v0.135 ATP5D Ellen McDonagh Publications for gene: ATP5D were set to
Adult onset hereditary spastic paraplegia v0.53 RAB3GAP2 Nick Beauchamp reviewed gene: RAB3GAP2: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Possible mitochondrial disorder - nuclear genes v0.134 ATP5C1 Ellen McDonagh Marked gene: ATP5C1 as ready
Possible mitochondrial disorder - nuclear genes v0.134 ATP5C1 Ellen McDonagh Added comment: Comment when marking as ready: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.134 ATP5C1 Ellen McDonagh Gene: atp5c1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.134 ATP5B Ellen McDonagh Marked gene: ATP5B as ready
Possible mitochondrial disorder - nuclear genes v0.134 ATP5B Ellen McDonagh Added comment: Comment when marking as ready: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.134 ATP5B Ellen McDonagh Gene: atp5b has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy v1.80 PMP2 Alexander Rossor reviewed gene: PMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Possible mitochondrial disorder - nuclear genes v0.134 SDHD Carl Fratter reviewed gene: SDHD: Rating: GREEN; Mode of pathogenicity: ; Publications: 24367056, 26008905; Phenotypes: Mitochondrial respiratory chain complex II deficiency, 252011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 SDHB Carl Fratter reviewed gene: SDHB: Rating: AMBER; Mode of pathogenicity: ; Publications: 22972948; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 SDHAF1 Carl Fratter reviewed gene: SDHAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19465911, 22995659, 26642834; Phenotypes: Mitochondrial respiratory chain complex II deficiency, 252011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 UQCRQ Carl Fratter reviewed gene: UQCRQ: Rating: AMBER; Mode of pathogenicity: ; Publications: 18439546; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4, 615159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 SLC25A22 Carl Fratter reviewed gene: SLC25A22: Rating: RED; Mode of pathogenicity: ; Publications: 19780765, 15592994, 24596948; Phenotypes: Epileptic encephalopathy, early infantile, 3, 609304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 POLRMT Carl Fratter reviewed gene: POLRMT: Rating: GREEN; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 YME1L1 Carl Fratter reviewed gene: YME1L1: Rating: AMBER; Mode of pathogenicity: ; Publications: 27495975; Phenotypes: ?Optic atrophy 11, 617302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 UQCRH Carl Fratter reviewed gene: UQCRH: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 UQCRFS1 Carl Fratter reviewed gene: UQCRFS1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 UQCRC2 Carl Fratter reviewed gene: UQCRC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 28275242, 23281071; Phenotypes: Mitochondrial complex III deficiency, nuclear type 5, 615160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 UQCRC1 Carl Fratter reviewed gene: UQCRC1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 UQCRB Carl Fratter reviewed gene: UQCRB: Rating: GREEN; Mode of pathogenicity: ; Publications: 12709789, 25446085, 28604960; Phenotypes: Mitochondrial complex III deficiency, nuclear type 3, 615158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 UQCR11 Carl Fratter reviewed gene: UQCR11: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 UQCR10 Carl Fratter reviewed gene: UQCR10: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 UQCC3 Carl Fratter reviewed gene: UQCC3: Rating: AMBER; Mode of pathogenicity: ; Publications: 25008109; Phenotypes: ?Mitochondrial complex III deficiency, nuclear type 9, 616111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 UQCC2 Carl Fratter reviewed gene: UQCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28804536, 24385928; Phenotypes: Mitochondrial complex III deficiency, nuclear type 7, 615824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 UQCC1 Carl Fratter reviewed gene: UQCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 TXN2 Carl Fratter reviewed gene: TXN2: Rating: AMBER; Mode of pathogenicity: ; Publications: 26626369; Phenotypes: ?Combined oxidative phosphorylation deficiency 29, 616811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 TRMT10C Carl Fratter reviewed gene: TRMT10C: Rating: GREEN; Mode of pathogenicity: ; Publications: 27132592; Phenotypes: Combined oxidative phosphorylation deficiency 30, 616974; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 TOP3A Carl Fratter reviewed gene: TOP3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 29290614; Phenotypes: ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 TMEM65 Carl Fratter reviewed gene: TMEM65: Rating: AMBER; Mode of pathogenicity: ; Publications: 28295037; Phenotypes: TMEM65 related mitochondrial encephalopmyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 TIMMDC1 Carl Fratter reviewed gene: TIMMDC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28604674; Phenotypes: Mitochondrial complex I deficiency, nuclear type 31, 618251; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 TIMM44 Carl Fratter reviewed gene: TIMM44: Rating: RED; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 TIMM22 Carl Fratter reviewed gene: TIMM22: Rating: AMBER; Mode of pathogenicity: ; Publications: 30452684; Phenotypes: Mitochondrial carrier translocase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 TFAM Carl Fratter reviewed gene: TFAM: Rating: AMBER; Mode of pathogenicity: ; Publications: 27448789; Phenotypes: ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 TARS2 Carl Fratter reviewed gene: TARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: 24827421, 26811336; Phenotypes: ?Combined oxidative phosphorylation deficiency 21, 615918; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 SLC25A32 Carl Fratter reviewed gene: SLC25A32: Rating: GREEN; Mode of pathogenicity: ; Publications: 26933868, 28443623; Phenotypes: ?Exercise intolerance, riboflavin-responsive, 616839; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 SLC25A21 Carl Fratter reviewed gene: SLC25A21: Rating: AMBER; Mode of pathogenicity: ; Publications: 29517768; Phenotypes: Mitochondrial oxodicarboxylate carrier deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 SFXN4 Carl Fratter reviewed gene: SFXN4: Rating: GREEN; Mode of pathogenicity: ; Publications: 24119684; Phenotypes: Combined oxidative phosphorylation deficiency 18, 615578; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 SDHC Carl Fratter reviewed gene: SDHC: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 SDHAF4 Carl Fratter reviewed gene: SDHAF4: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 SDHAF3 Carl Fratter reviewed gene: SDHAF3: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 SDHAF2 Carl Fratter reviewed gene: SDHAF2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 PTCD3 Carl Fratter reviewed gene: PTCD3: Rating: AMBER; Mode of pathogenicity: ; Publications: 30607703; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 PNPLA8 Carl Fratter reviewed gene: PNPLA8: Rating: GREEN; Mode of pathogenicity: ; Publications: 29681094, 25512002, 25473036; Phenotypes: ?Mitochondrial myopathy with lactic acidosis, 251950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 PMPCB Carl Fratter reviewed gene: PMPCB: Rating: GREEN; Mode of pathogenicity: ; Publications: 29576218; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6, 617954; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 PET117 Carl Fratter reviewed gene: PET117: Rating: AMBER; Mode of pathogenicity: ; Publications: 28386624; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 OXA1L Carl Fratter reviewed gene: OXA1L: Rating: AMBER; Mode of pathogenicity: ; Publications: 30201738; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 NSUN3 Carl Fratter reviewed gene: NSUN3: Rating: AMBER; Mode of pathogenicity: ; Publications: 27356879; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 NNT Carl Fratter reviewed gene: NNT: Rating: RED; Mode of pathogenicity: ; Publications: 27129361; Phenotypes: Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 NFS1 Carl Fratter reviewed gene: NFS1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24498631; Phenotypes: Infantile mitochondrial complex II/III deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 NDUFV3 Carl Fratter reviewed gene: NDUFV3: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 NDUFS5 Carl Fratter reviewed gene: NDUFS5: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 NDUFC2 Carl Fratter reviewed gene: NDUFC2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 NDUFC1 Carl Fratter reviewed gene: NDUFC1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 NDUFB9 Carl Fratter reviewed gene: NDUFB9: Rating: AMBER; Mode of pathogenicity: ; Publications: 22200994; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 24, 618245; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 NDUFB8 Carl Fratter reviewed gene: NDUFB8: Rating: GREEN; Mode of pathogenicity: ; Publications: 27290639, 29429571; Phenotypes: Mitochondrial complex I deficiency, nuclear type 32, 618252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 NDUFB7 Carl Fratter reviewed gene: NDUFB7: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 NDUFB6 Carl Fratter reviewed gene: NDUFB6: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 NDUFB5 Carl Fratter reviewed gene: NDUFB5: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 NDUFB4 Carl Fratter reviewed gene: NDUFB4: Rating: AMBER; Mode of pathogenicity: ; Publications: 28454995; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 NDUFB2 Carl Fratter reviewed gene: NDUFB2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 NDUFB10 Carl Fratter reviewed gene: NDUFB10: Rating: AMBER; Mode of pathogenicity: ; Publications: 28040730; Phenotypes: Mitochondrial complex I deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 NDUFB1 Carl Fratter reviewed gene: NDUFB1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 NDUFAF8 Carl Fratter reviewed gene: NDUFAF8: Rating: GREEN; Mode of pathogenicity: ; Publications: 27499296; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 NDUFAF7 Carl Fratter reviewed gene: NDUFAF7: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 NDUFAB1 Carl Fratter reviewed gene: NDUFAB1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 NDUFA9 Carl Fratter reviewed gene: NDUFA9: Rating: GREEN; Mode of pathogenicity: ; Publications: 22114105, 28671271; Phenotypes: Mitochondrial complex I deficiency, nuclear type 26, 618247; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 NDUFA8 Carl Fratter reviewed gene: NDUFA8: Rating: AMBER; Mode of pathogenicity: ; Publications: 15576045; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 NDUFA7 Carl Fratter reviewed gene: NDUFA7: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 NDUFA6 Carl Fratter reviewed gene: NDUFA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 30245030; Phenotypes: Mitochondrial complex I deficiency, nuclear type 33, 618253; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 NDUFA5 Carl Fratter reviewed gene: NDUFA5: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 NDUFA4 Carl Fratter reviewed gene: NDUFA4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23746447, 29636225; Phenotypes: Mitochondrial complex IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 NDUFA3 Carl Fratter reviewed gene: NDUFA3: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 NDUFA13 Carl Fratter reviewed gene: NDUFA13: Rating: AMBER; Mode of pathogenicity: ; Publications: 25901006; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 28, 618249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 NDUFA12 Carl Fratter reviewed gene: NDUFA12: Rating: AMBER; Mode of pathogenicity: ; Publications: 21617257; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 23, 618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 MSTO1 Carl Fratter reviewed gene: MSTO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28554942, 28544275, 29339779; Phenotypes: Myopathy, mitochondrial, and ataxia, 617675; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 MRPS7 Carl Fratter reviewed gene: MRPS7: Rating: AMBER; Mode of pathogenicity: ; Publications: 25556185; Phenotypes: ?Combined oxidative phosphorylation deficiency 34, 617872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 MRPS23 Carl Fratter reviewed gene: MRPS23: Rating: AMBER; Mode of pathogenicity: ; Publications: 26741492; Phenotypes: Combined oxidative phosphorylation deficiency, Hepatic disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 MRPS2 Carl Fratter reviewed gene: MRPS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29576219; Phenotypes: Combined oxidative phosphorylation deficiency 36, 617950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 MRPS16 Carl Fratter reviewed gene: MRPS16: Rating: AMBER; Mode of pathogenicity: ; Publications: 28749478, 15505824; Phenotypes: Combined oxidative phosphorylation deficiency 2, 610498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 MRPS14 Carl Fratter reviewed gene: MRPS14: Rating: AMBER; Mode of pathogenicity: ; Publications: 30358850; Phenotypes: ?Combined oxidative phosphorylation deficiency 38, 618378; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 MRPL3 Carl Fratter reviewed gene: MRPL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 21786366, 27815843; Phenotypes: Combined oxidative phosphorylation deficiency 9, 614582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 MRPL12 Carl Fratter reviewed gene: MRPL12: Rating: AMBER; Mode of pathogenicity: ; Publications: 23603806; Phenotypes: Growth retardation and neurological deterioration; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 MRM2 Carl Fratter reviewed gene: MRM2: Rating: AMBER; Mode of pathogenicity: ; Publications: 28973171; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 LYRM4 Carl Fratter reviewed gene: LYRM4: Rating: AMBER; Mode of pathogenicity: ; Publications: 23814038; Phenotypes: ?Combined oxidative phosphorylation deficiency 19, 615595; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 IDH3B Carl Fratter reviewed gene: IDH3B: Rating: GREEN; Mode of pathogenicity: ; Publications: 18806796; Phenotypes: Retinitis pigmentosa 46, 612572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 IDH3A Carl Fratter reviewed gene: IDH3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 28412069, 28058510; Phenotypes: Infantile encephalopathy, Retinitis pigmentosa with macular pseudocoloboma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 GATC Carl Fratter reviewed gene: GATC: Rating: GREEN; Mode of pathogenicity: ; Publications: 30283131; Phenotypes: Mitochondrial cardiomyopathy disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 GATB Carl Fratter reviewed gene: GATB: Rating: GREEN; Mode of pathogenicity: ; Publications: 30283131; Phenotypes: Mitochondrial cardiomyopathy disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 FDX2 Carl Fratter reviewed gene: FDX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30010796, 28803783, 24281368; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 ERAL1 Carl Fratter reviewed gene: ERAL1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28449065; Phenotypes: Perrault syndrome 6, 617565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 DNM2 Carl Fratter reviewed gene: DNM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25492887, 25492887 (abstract); Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate B, 606482, Charcot-Marie-Tooth disease, axonal type 2M, 606482, Centronuclear myopathy 1, 160150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Possible mitochondrial disorder - nuclear genes v0.134 COX8A Carl Fratter reviewed gene: COX8A: Rating: AMBER; Mode of pathogenicity: ; Publications: 26685157; Phenotypes: ?Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 COX7C Carl Fratter reviewed gene: COX7C: Rating: AMBER; Mode of pathogenicity: ; Publications: 30634555; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 COX7A1 Carl Fratter reviewed gene: COX7A1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 COX6C Carl Fratter reviewed gene: COX6C: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 COX6B2 Carl Fratter reviewed gene: COX6B2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 COX6A2 Carl Fratter reviewed gene: COX6A2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 COX5B Carl Fratter reviewed gene: COX5B: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 COX5A Carl Fratter reviewed gene: COX5A: Rating: AMBER; Mode of pathogenicity: ; Publications: 28247525; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 COX4I2 Carl Fratter reviewed gene: COX4I2: Rating: AMBER; Mode of pathogenicity: ; Publications: 19268275; Phenotypes: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 COX4I1 Carl Fratter reviewed gene: COX4I1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28766551; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 COX19 Carl Fratter reviewed gene: COX19: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 COX18 Carl Fratter reviewed gene: COX18: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 COX17 Carl Fratter reviewed gene: COX17: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 COX16 Carl Fratter reviewed gene: COX16: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 COX11 Carl Fratter reviewed gene: COX11: Rating: AMBER; Mode of pathogenicity: ; Publications: no mito reports found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 COQ7 Carl Fratter reviewed gene: COQ7: Rating: GREEN; Mode of pathogenicity: ; Publications: 28409910, 26084283, 30369941; Phenotypes: ?Coenzyme Q10 deficiency, primary, 8, 616733; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 COQ5 Carl Fratter reviewed gene: COQ5: Rating: AMBER; Mode of pathogenicity: ; Publications: 29044765; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 COA7 Carl Fratter reviewed gene: COA7: Rating: GREEN; Mode of pathogenicity: ; Publications: 29718187, 27683825; Phenotypes: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 COA6 Carl Fratter reviewed gene: COA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 22277967, 24549041, 25959673, 25339201; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 COA5 Carl Fratter edited their review of gene: COA5: Added comment: Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 1 reported family (2 sibs) with functional studies; Changed publications: 21457908; Changed phenotypes: ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500
Possible mitochondrial disorder - nuclear genes v0.134 COA4 Carl Fratter reviewed gene: COA4: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 COA3 Carl Fratter edited their review of gene: COA3: Added comment: Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 1 reported case with functional studies; Changed publications: 25604084; Changed phenotypes: No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.134 COA1 Carl Fratter reviewed gene: COA1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 CEP89 Carl Fratter reviewed gene: CEP89: Rating: AMBER; Mode of pathogenicity: ; Publications: 23575228; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 CA5A Carl Fratter reviewed gene: CA5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 26913920, 24530203; Phenotypes: Hyperammonemia due to carbonic anhydrase VA deficiency, 615751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 C19orf70 Carl Fratter reviewed gene: C19orf70: Rating: GREEN; Mode of pathogenicity: ; Publications: 29618761, 27485409, 27623147; Phenotypes: Combined oxidative phosphorylation deficiency 37, 618329; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 ATPAF1 Carl Fratter reviewed gene: ATPAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 ATP5O Carl Fratter reviewed gene: ATP5O: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 ATP5L2 Carl Fratter reviewed gene: ATP5L2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 ATP5L Carl Fratter reviewed gene: ATP5L: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 ATP5J2 Carl Fratter reviewed gene: ATP5J2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 ATP5J Carl Fratter reviewed gene: ATP5J: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 ATP5I Carl Fratter reviewed gene: ATP5I: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 ATP5H Carl Fratter reviewed gene: ATP5H: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 ATP5G3 Carl Fratter reviewed gene: ATP5G3: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 ATP5G2 Carl Fratter reviewed gene: ATP5G2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 ATP5G1 Carl Fratter reviewed gene: ATP5G1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 ATP5F1 Carl Fratter reviewed gene: ATP5F1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 ATP5E Carl Fratter reviewed gene: ATP5E: Rating: AMBER; Mode of pathogenicity: ; Publications: 20566710, 25954304; Phenotypes: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 ATP5D Carl Fratter reviewed gene: ATP5D: Rating: GREEN; Mode of pathogenicity: ; Publications: 29478781; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, 618120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 ATP5C1 Carl Fratter reviewed gene: ATP5C1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 ATP5B Carl Fratter reviewed gene: ATP5B: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 ATP5A1 Carl Fratter reviewed gene: ATP5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23596069, 23599390; Phenotypes: ?Combined oxidative phosphorylation deficiency 22, 616045, ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, 615228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.80 CNTNAP1 Alexander Rossor reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Possible mitochondrial disorder - nuclear genes v0.133 SDHD Ellen McDonagh Added phenotypes Mitochondrial respiratory chain complex II deficiency, 252011 for gene: SDHD
Publications for gene SDHD were changed from to 26008905; 24367056
Possible mitochondrial disorder - nuclear genes v0.133 SDHB Ellen McDonagh Added phenotypes No OMIM phenotype for gene: SDHB
Possible mitochondrial disorder - nuclear genes v0.133 SDHAF1 Ellen McDonagh Added phenotypes Mitochondrial respiratory chain complex II deficiency, 252011 for gene: SDHAF1
Publications for gene SDHAF1 were changed from to 22995659; 26642834; 19465911
Possible mitochondrial disorder - nuclear genes v0.133 UQCRQ Ellen McDonagh Added phenotypes Mitochondrial complex III deficiency, nuclear type 4, 615159 for gene: UQCRQ
Publications for gene UQCRQ were changed from to 18439546
Possible mitochondrial disorder - nuclear genes v0.133 SLC25A22 Ellen McDonagh Added phenotypes Epileptic encephalopathy, early infantile, 3, 609304 for gene: SLC25A22
Publications for gene SLC25A22 were changed from to 19780765; 15592994; 24596948
Rating Changed from Green List (high evidence) to Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.133 POLRMT Ellen McDonagh gene: POLRMT was added
gene: POLRMT was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS
Mode of inheritance for gene: POLRMT was set to
Phenotypes for gene: POLRMT were set to No OMIM phenotype
Hereditary neuropathy v1.80 ATP1A1 Alexander Rossor reviewed gene: ATP1A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset hereditary spastic paraplegia v1.74 PGAP1 Nick Beauchamp reviewed gene: PGAP1: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 PGAP1 Nick Beauchamp reviewed gene: PGAP1: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 PCDH12 Nick Beauchamp reviewed gene: PCDH12: Rating: RED; Mode of pathogenicity: None; Publications: 27164683, 29556033; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.53 PCDH12 Nick Beauchamp reviewed gene: PCDH12: Rating: RED; Mode of pathogenicity: None; Publications: 27164683, 29556033; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.80 ARHGEF10 Alexander Rossor reviewed gene: ARHGEF10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.80 ARHGEF10 Alexander Rossor Deleted their review
Adult onset hereditary spastic paraplegia v0.53 MARS Nick Beauchamp reviewed gene: MARS: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 MARS Nick Beauchamp reviewed gene: MARS: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 KLC4 Nick Beauchamp reviewed gene: KLC4: Rating: RED; Mode of pathogenicity: None; Publications: 26423925; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 KLC4 Nick Beauchamp reviewed gene: KLC4: Rating: RED; Mode of pathogenicity: None; Publications: 26423925; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disorder with complex V deficiency v0.25 ATPAF1 Ellen McDonagh Marked gene: ATPAF1 as ready
Mitochondrial disorder with complex V deficiency v0.25 ATPAF1 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex V deficiency v0.25 ATPAF1 Ellen McDonagh Gene: atpaf1 has been classified as Amber List (Moderate Evidence).
Adult onset hereditary spastic paraplegia v0.53 CCT5 Nick Beauchamp reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: None; Publications: 16399879; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disorder with complex V deficiency v0.25 ATP5O Ellen McDonagh Marked gene: ATP5O as ready
Mitochondrial disorder with complex V deficiency v0.25 ATP5O Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex V deficiency v0.25 ATP5O Ellen McDonagh Gene: atp5o has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.74 CCT5 Nick Beauchamp reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: None; Publications: 16399879; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disorder with complex V deficiency v0.25 ATP5L2 Ellen McDonagh Marked gene: ATP5L2 as ready
Mitochondrial disorder with complex V deficiency v0.25 ATP5L2 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex V deficiency v0.25 ATP5L2 Ellen McDonagh Gene: atp5l2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.25 ATP5L Ellen McDonagh Marked gene: ATP5L as ready
Mitochondrial disorder with complex V deficiency v0.25 ATP5L Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex V deficiency v0.25 ATP5L Ellen McDonagh Gene: atp5l has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.25 ATP5J2 Ellen McDonagh Marked gene: ATP5J2 as ready
Mitochondrial disorder with complex V deficiency v0.25 ATP5J2 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex V deficiency v0.25 ATP5J2 Ellen McDonagh Gene: atp5j2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.25 ATP5J Ellen McDonagh Marked gene: ATP5J as ready
Mitochondrial disorder with complex V deficiency v0.25 ATP5J Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex V deficiency v0.25 ATP5J Ellen McDonagh Gene: atp5j has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.25 ATP5I Ellen McDonagh Marked gene: ATP5I as ready
Mitochondrial disorder with complex V deficiency v0.25 ATP5I Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex V deficiency v0.25 ATP5I Ellen McDonagh Gene: atp5i has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.25 ATP5H Ellen McDonagh Marked gene: ATP5H as ready
Mitochondrial disorder with complex V deficiency v0.25 ATP5H Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex V deficiency v0.25 ATP5H Ellen McDonagh Gene: atp5h has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.25 ATP5G3 Ellen McDonagh Marked gene: ATP5G3 as ready
Mitochondrial disorder with complex V deficiency v0.25 ATP5G3 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex V deficiency v0.25 ATP5G3 Ellen McDonagh Gene: atp5g3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.25 ATP5G2 Ellen McDonagh Marked gene: ATP5G2 as ready
Mitochondrial disorder with complex V deficiency v0.25 ATP5G2 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex V deficiency v0.25 ATP5G2 Ellen McDonagh Gene: atp5g2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.25 ATP5G1 Ellen McDonagh Marked gene: ATP5G1 as ready
Mitochondrial disorder with complex V deficiency v0.25 ATP5G1 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex V deficiency v0.25 ATP5G1 Ellen McDonagh Gene: atp5g1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.25 ATP5F1 Ellen McDonagh Marked gene: ATP5F1 as ready
Mitochondrial disorder with complex V deficiency v0.25 ATP5F1 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex V deficiency v0.25 ATP5F1 Ellen McDonagh Gene: atp5f1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.25 ATP5E Ellen McDonagh Marked gene: ATP5E as ready
Mitochondrial disorder with complex V deficiency v0.25 ATP5E Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex V deficiency v0.25 ATP5E Ellen McDonagh Gene: atp5e has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.25 ATP5D Ellen McDonagh Classified gene: ATP5D as Green List (high evidence)
Mitochondrial disorder with complex V deficiency v0.25 ATP5D Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex V deficiency v0.25 ATP5D Ellen McDonagh Gene: atp5d has been classified as Green List (High Evidence).
Mitochondrial disorder with complex V deficiency v0.24 ATP5D Ellen McDonagh Publications for gene: ATP5D were set to
Mitochondrial disorder with complex V deficiency v0.23 ATP5C1 Ellen McDonagh Marked gene: ATP5C1 as ready
Mitochondrial disorder with complex V deficiency v0.23 ATP5C1 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex V deficiency v0.23 ATP5C1 Ellen McDonagh Gene: atp5c1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.23 ATP5B Ellen McDonagh Marked gene: ATP5B as ready
Mitochondrial disorder with complex V deficiency v0.23 ATP5B Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex V deficiency v0.23 ATP5B Ellen McDonagh Gene: atp5b has been classified as Amber List (Moderate Evidence).
Adult onset hereditary spastic paraplegia v0.53 ARSI Nick Beauchamp reviewed gene: ARSI: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 ARSI Nick Beauchamp reviewed gene: ARSI: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disorder with complex V deficiency v0.23 ATP5A1 Ellen McDonagh Publications for gene: ATP5A1 were set to
Adult onset hereditary spastic paraplegia v0.53 WDR48 Nick Beauchamp reviewed gene: WDR48: Rating: AMBER; Mode of pathogenicity: None; Publications: 24482476, 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 WDR48 Nick Beauchamp reviewed gene: WDR48: Rating: AMBER; Mode of pathogenicity: None; Publications: 24482476, 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disorder with complex V deficiency v0.22 ATPAF1 Carl Fratter reviewed gene: ATPAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.22 ATP5O Carl Fratter reviewed gene: ATP5O: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.22 ATP5L2 Carl Fratter reviewed gene: ATP5L2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.22 ATP5L Carl Fratter reviewed gene: ATP5L: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.22 ATP5J2 Carl Fratter reviewed gene: ATP5J2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.22 ATP5J Carl Fratter reviewed gene: ATP5J: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.22 ATP5I Carl Fratter reviewed gene: ATP5I: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.22 ATP5H Carl Fratter reviewed gene: ATP5H: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.22 ATP5G3 Carl Fratter reviewed gene: ATP5G3: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.22 ATP5G2 Carl Fratter reviewed gene: ATP5G2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.22 ATP5G1 Carl Fratter reviewed gene: ATP5G1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.22 ATP5F1 Carl Fratter reviewed gene: ATP5F1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.22 ATP5E Carl Fratter reviewed gene: ATP5E: Rating: AMBER; Mode of pathogenicity: ; Publications: 20566710, 25954304; Phenotypes: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex V deficiency v0.22 ATP5D Carl Fratter reviewed gene: ATP5D: Rating: GREEN; Mode of pathogenicity: ; Publications: 29478781; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, 618120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex V deficiency v0.22 ATP5C1 Carl Fratter reviewed gene: ATP5C1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.22 ATP5B Carl Fratter reviewed gene: ATP5B: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.22 ATP5A1 Carl Fratter reviewed gene: ATP5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23596069, 23599390; Phenotypes: ?Combined oxidative phosphorylation deficiency 22, 616045, ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, 615228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.53 GAD1 Nick Beauchamp reviewed gene: GAD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15571623, 28454995; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 GAD1 Nick Beauchamp reviewed gene: GAD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15571623, 28454995; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disorder with complex IV deficiency v0.40 NDUFA4 Ellen McDonagh Classified gene: NDUFA4 as Green List (high evidence)
Mitochondrial disorder with complex IV deficiency v0.40 NDUFA4 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.40 NDUFA4 Ellen McDonagh Gene: ndufa4 has been classified as Green List (High Evidence).
Mitochondrial disorder with complex IV deficiency v0.39 COX8A Ellen McDonagh Marked gene: COX8A as ready
Mitochondrial disorder with complex IV deficiency v0.39 COX8A Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.39 COX8A Ellen McDonagh Gene: cox8a has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.39 COX8A Ellen McDonagh Publications for gene: COX8A were set to
Mitochondrial disorder with complex IV deficiency v0.38 COX7C Ellen McDonagh Marked gene: COX7C as ready
Mitochondrial disorder with complex IV deficiency v0.38 COX7C Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.38 COX7C Ellen McDonagh Gene: cox7c has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.38 COX7C Ellen McDonagh Publications for gene: COX7C were set to
Mitochondrial disorder with complex IV deficiency v0.37 COX7A1 Ellen McDonagh Marked gene: COX7A1 as ready
Mitochondrial disorder with complex IV deficiency v0.37 COX7A1 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.37 COX7A1 Ellen McDonagh Gene: cox7a1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.37 COX6C Ellen McDonagh Marked gene: COX6C as ready
Mitochondrial disorder with complex IV deficiency v0.37 COX6C Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.37 COX6C Ellen McDonagh Gene: cox6c has been classified as Amber List (Moderate Evidence).
Adult onset hereditary spastic paraplegia v0.53 ENTPD1 Nick Beauchamp reviewed gene: ENTPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 29691679; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 ENTPD1 Nick Beauchamp reviewed gene: ENTPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 29691679; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disorder with complex IV deficiency v0.37 COX6B2 Ellen McDonagh Marked gene: COX6B2 as ready
Mitochondrial disorder with complex IV deficiency v0.37 COX6B2 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.37 COX6B2 Ellen McDonagh Gene: cox6b2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.37 COX6A2 Ellen McDonagh Marked gene: COX6A2 as ready
Mitochondrial disorder with complex IV deficiency v0.37 COX6A2 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.37 COX6A2 Ellen McDonagh Gene: cox6a2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.37 COX5B Ellen McDonagh Marked gene: COX5B as ready
Mitochondrial disorder with complex IV deficiency v0.37 COX5B Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.37 COX5B Ellen McDonagh Gene: cox5b has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.37 COX5A Ellen McDonagh Marked gene: COX5A as ready
Mitochondrial disorder with complex IV deficiency v0.37 COX5A Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.37 COX5A Ellen McDonagh Gene: cox5a has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.37 COX4I2 Ellen McDonagh Marked gene: COX4I2 as ready
Mitochondrial disorder with complex IV deficiency v0.37 COX4I2 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.37 COX4I2 Ellen McDonagh Gene: cox4i2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.37 COX4I1 Ellen McDonagh Marked gene: COX4I1 as ready
Mitochondrial disorder with complex IV deficiency v0.37 COX4I1 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.37 COX4I1 Ellen McDonagh Gene: cox4i1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.37 COX19 Ellen McDonagh Marked gene: COX19 as ready
Mitochondrial disorder with complex IV deficiency v0.37 COX19 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.37 COX19 Ellen McDonagh Gene: cox19 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.37 COX18 Ellen McDonagh Marked gene: COX18 as ready
Mitochondrial disorder with complex IV deficiency v0.37 COX18 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.37 COX18 Ellen McDonagh Gene: cox18 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.37 COX17 Ellen McDonagh Marked gene: COX17 as ready
Mitochondrial disorder with complex IV deficiency v0.37 COX17 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.37 COX17 Ellen McDonagh Gene: cox17 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.37 COX16 Ellen McDonagh Marked gene: COX16 as ready
Mitochondrial disorder with complex IV deficiency v0.37 COX16 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.37 COX16 Ellen McDonagh Gene: cox16 has been classified as Amber List (Moderate Evidence).
Adult onset hereditary spastic paraplegia v0.53 HSPD1 Nick Beauchamp reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 11898127; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mitochondrial disorder with complex IV deficiency v0.37 COX11 Ellen McDonagh Marked gene: COX11 as ready
Mitochondrial disorder with complex IV deficiency v0.37 COX11 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.37 COX11 Ellen McDonagh Gene: cox11 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.74 HSPD1 Nick Beauchamp reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 11898127; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 CDK16 Nick Beauchamp reviewed gene: CDK16: Rating: RED; Mode of pathogenicity: None; Publications: 25644381; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mitochondrial disorder with complex IV deficiency v0.37 COA7 Ellen McDonagh Marked gene: COA7 as ready
Mitochondrial disorder with complex IV deficiency v0.37 COA7 Ellen McDonagh Gene: coa7 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.74 CDK16 Nick Beauchamp reviewed gene: CDK16: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mitochondrial disorder with complex IV deficiency v0.37 COA7 Ellen McDonagh Classified gene: COA7 as Green List (high evidence)
Mitochondrial disorder with complex IV deficiency v0.37 COA7 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.37 COA7 Ellen McDonagh Gene: coa7 has been classified as Green List (High Evidence).
Mitochondrial disorder with complex IV deficiency v0.36 COA7 Ellen McDonagh Phenotypes for gene: COA7 were changed from ?Mitochondrial complex IV deficiency, 220110 to ?Mitochondrial complex IV deficiency, 220110; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387
Childhood onset hereditary spastic paraplegia v1.74 UBAP1 Nick Beauchamp reviewed gene: UBAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30929741; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset hereditary spastic paraplegia v0.53 UBAP1 Nick Beauchamp reviewed gene: UBAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30929741; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset hereditary spastic paraplegia v0.53 ARL6IP1 Nick Beauchamp reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 24482476, 28471035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disorder with complex IV deficiency v0.35 COA7 Ellen McDonagh Publications for gene: COA7 were set to
Mitochondrial disorders v1.291 COA6 Ellen McDonagh commented on gene: COA6: Added the 'treatable' tag, as in PMID: 24549041 as copper supplement rescues respiratory and complex IV assembly defects in knockout yeast cells, and could be a potential treatment.
Mitochondrial disorders v1.291 COA6 Ellen McDonagh Tag treatable tag was added to gene: COA6.
Mitochondrial disorder with complex IV deficiency v0.34 COA6 Ellen McDonagh Marked gene: COA6 as ready
Mitochondrial disorder with complex IV deficiency v0.34 COA6 Ellen McDonagh Gene: coa6 has been classified as Green List (High Evidence).
Mitochondrial disorder with complex IV deficiency v0.34 COA6 Ellen McDonagh Classified gene: COA6 as Green List (high evidence)
Mitochondrial disorder with complex IV deficiency v0.34 COA6 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. Two unrelated cases (with different variants) reported, with supporting functional evidence including a knockout zebrafish model.
Mitochondrial disorder with complex IV deficiency v0.34 COA6 Ellen McDonagh Gene: coa6 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.74 ARL6IP1 Nick Beauchamp reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 24482476, 28471035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 POLR3A Nick Beauchamp reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25655951, 21855841, 28459997; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.53 POLR3A Nick Beauchamp reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25655951, 21855841, 28459997; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.80 SURF1 Louise Daugherty Deleted their comment
Adult onset hereditary spastic paraplegia v0.53 CPT1C Nick Beauchamp reviewed gene: CPT1C: Rating: AMBER; Mode of pathogenicity: None; Publications: 25751282, 30564185; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary neuropathy v1.80 SLC5A7 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.74 CPT1C Nick Beauchamp reviewed gene: CPT1C: Rating: AMBER; Mode of pathogenicity: None; Publications: 25751282, 30564185; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary neuropathy v1.80 SLC52A1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 SCN10A Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 SBF1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 PMP2 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 NEFH Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 MCM3AP Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 MARS Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 HSPB3 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 FXN Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 FBXO38 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 DNAJB2 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 DCTN1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 CNTNAP1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 CCT5 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 ATP1A1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 SYT2 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 WARS Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 TRPA1 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 TRIM2 Louise Daugherty Deleted their comment
Skeletal muscle channelopathy v0.7 ATP1A2 Louise Daugherty Deleted their comment
Skeletal muscle channelopathy v0.7 CACNA1A Louise Daugherty Deleted their comment
Skeletal muscle channelopathy v0.7 CACNA1S Louise Daugherty Deleted their comment
Skeletal muscle channelopathy v0.7 CLCN1 Louise Daugherty Deleted their comment
Skeletal muscle channelopathy v0.7 KCNJ2 Louise Daugherty Deleted their comment
Skeletal muscle channelopathy v0.7 SCN4A Louise Daugherty Deleted their comment
Skeletal muscle channelopathy v0.7 SLC2A1 Louise Daugherty Deleted their comment
Mitochondrial disorder with complex IV deficiency v0.33 COA6 Ellen McDonagh Publications for gene: COA6 were set to
Mitochondrial disorder with complex IV deficiency v0.32 COA5 Ellen McDonagh Marked gene: COA5 as ready
Mitochondrial disorder with complex IV deficiency v0.32 COA5 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.32 COA5 Ellen McDonagh Gene: coa5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.32 COA5 Ellen McDonagh Publications for gene: COA5 were set to
Congenital myaesthenic syndrome v1.47 LRP4 Louise Daugherty Publications for gene: LRP4 were set to PMID: 24234652; PMID: 26052878
Mitochondrial disorder with complex IV deficiency v0.31 COA4 Ellen McDonagh Marked gene: COA4 as ready
Mitochondrial disorder with complex IV deficiency v0.31 COA4 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.31 COA4 Ellen McDonagh Gene: coa4 has been classified as Amber List (Moderate Evidence).
Congenital myaesthenic syndrome v1.46 SLC18A3 Louise Daugherty Publications for gene: SLC18A3 were set to PMID: 27590285
Mitochondrial disorder with complex IV deficiency v0.31 COA3 Ellen McDonagh Marked gene: COA3 as ready
Mitochondrial disorder with complex IV deficiency v0.31 COA3 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.31 COA3 Ellen McDonagh Gene: coa3 has been classified as Amber List (Moderate Evidence).
Congenital myaesthenic syndrome v1.45 GMPPB Louise Daugherty Publications for gene: GMPPB were set to PMID: 26133662; PMID: 27147698
Congenital myaesthenic syndrome v1.44 CHRNG Louise Daugherty commented on gene: CHRNG: PMID:16826520 (Hoffmann et al., 2006) conclude that Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. AChRs have five subunits including two alpha, one beta and one delta. For the fifth subunit, gamma subunits are present in early development (switching to epsilon subunits in late fetal development).
Mitochondrial disorder with complex IV deficiency v0.31 COA1 Ellen McDonagh Marked gene: COA1 as ready
Mitochondrial disorder with complex IV deficiency v0.31 COA1 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex IV deficiency v0.31 COA1 Ellen McDonagh Gene: coa1 has been classified as Amber List (Moderate Evidence).
Congenital myaesthenic syndrome v1.44 CHRNG Louise Daugherty Publications for gene: CHRNG were set to 16826531; 22167768; 27245440; 25411939; 8040310; PMID:16826520 (Hoffmann et al., 2006) conclude that Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. AChRs have five subunits including two alpha, one beta and one delta. For the fifth subunit, gamma subunits are present in early development (switching to epsilon subunits in late fetal development).
Congenital myaesthenic syndrome v1.43 SLC5A7 Louise Daugherty Publications for gene: SLC5A7 were set to PMID: 27569547; PMID: 23141292 ; PMID: 26786006
Congenital myaesthenic syndrome v1.42 COL13A1 Louise Daugherty Publications for gene: COL13A1 were set to PMID: 26626625
Mitochondrial disorder with complex IV deficiency v0.31 NDUFA4 Carl Fratter reviewed gene: NDUFA4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23746447, 29636225; Phenotypes: Mitochondrial complex IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.31 COX8A Carl Fratter reviewed gene: COX8A: Rating: AMBER; Mode of pathogenicity: ; Publications: 26685157; Phenotypes: ?Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.31 COX7C Carl Fratter reviewed gene: COX7C: Rating: AMBER; Mode of pathogenicity: ; Publications: 30634555; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.31 COX7A1 Carl Fratter reviewed gene: COX7A1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.31 COX6C Carl Fratter reviewed gene: COX6C: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.31 COX6B2 Carl Fratter reviewed gene: COX6B2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.31 COX6A2 Carl Fratter reviewed gene: COX6A2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.31 COX5B Carl Fratter reviewed gene: COX5B: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.31 COX5A Carl Fratter reviewed gene: COX5A: Rating: AMBER; Mode of pathogenicity: ; Publications: 28247525; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.31 COX4I2 Carl Fratter reviewed gene: COX4I2: Rating: AMBER; Mode of pathogenicity: ; Publications: 19268275; Phenotypes: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.31 COX4I1 Carl Fratter reviewed gene: COX4I1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28766551; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.31 COX19 Carl Fratter reviewed gene: COX19: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.31 COX18 Carl Fratter reviewed gene: COX18: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.31 COX17 Carl Fratter reviewed gene: COX17: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.31 COX16 Carl Fratter reviewed gene: COX16: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.31 COX11 Carl Fratter reviewed gene: COX11: Rating: AMBER; Mode of pathogenicity: ; Publications: no mito reports found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.31 COA7 Carl Fratter reviewed gene: COA7: Rating: GREEN; Mode of pathogenicity: ; Publications: 29718187, 27683825; Phenotypes: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.31 COA6 Carl Fratter reviewed gene: COA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 22277967, 24549041, 25959673, 25339201; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.31 COA5 Carl Fratter edited their review of gene: COA5: Added comment: Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 1 reported family (2 sibs) with functional studies; Changed publications: 21457908; Changed phenotypes: ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500
Mitochondrial disorder with complex IV deficiency v0.31 COA4 Carl Fratter reviewed gene: COA4: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.31 COA3 Carl Fratter edited their review of gene: COA3: Added comment: Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 1 reported case with functional studies; Changed publications: 25604084; Changed phenotypes: No OMIM phenotype
Mitochondrial disorder with complex IV deficiency v0.31 COA1 Carl Fratter reviewed gene: COA1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.31 CEP89 Carl Fratter reviewed gene: CEP89: Rating: AMBER; Mode of pathogenicity: ; Publications: 23575228; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Childhood onset hereditary spastic paraplegia v1.74 ZFYVE26 Nick Beauchamp reviewed gene: ZFYVE26: Rating: ; Mode of pathogenicity: None; Publications: 18394578, 19805727; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 ZFYVE26 Nick Beauchamp reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: None; Publications: 18394578, 19805727; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myaesthenic syndrome v1.41 COLQ Louise Daugherty commented on gene: COLQ: PMID:10665486;9689136;18180250 present the clinical and molecular genetic findings of 22 congenital myasthenic syndrome (CMS) patients from 20 unrelated families, carrying a total of 20 different COLQ mutations: 9 patients were born from consanguineous marriages;PMID:10441569
Congenital myaesthenic syndrome v1.41 COLQ Louise Daugherty Publications for gene: COLQ were set to 10665486; 9689136; PMID:18180250 present the clinical and molecular genetic findings of 22 congenital myasthenic syndrome (CMS) patients from 20 unrelated families, carrying a total of 20 different COLQ mutations: 9 patients were born from consanguineous marriages; 10441569
Childhood onset hereditary spastic paraplegia v1.74 VPS37A Nick Beauchamp reviewed gene: VPS37A: Rating: RED; Mode of pathogenicity: None; Publications: 22717650; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 VPS37A Nick Beauchamp reviewed gene: VPS37A: Rating: RED; Mode of pathogenicity: None; Publications: 22717650; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myaesthenic syndrome v1.40 DOK7 Louise Daugherty Deleted their comment
Congenital myaesthenic syndrome v1.40 DOK7 Louise Daugherty commented on gene: DOK7: PMID:16917026 (Beeson et al., 2006) identified a set of DOK7 mutations including a frameshift (rs606231128) in 16 of 21 patients with congenital myasthenic syndrome-10 (CMS10, OMIM:254300). PMID:17452375;22661499;18626973 Among 16 patients with CMS10, Selcen et al. (2008) identified 17 different mutations in the DOK7 gene.
Congenital myaesthenic syndrome v1.40 DOK7 Louise Daugherty Publications for gene: DOK7 were set to 16917026; 17452375; 22661499; 18626973
Congenital myaesthenic syndrome v1.39 GFPT1 Louise Daugherty commented on gene: GFPT1: PMID:21975507;In 13 unrelated families with autosomal recessive congenital myasthenic syndrome-12 (CMS12, OMIM:610542), Senderek et al. (2011, PMID:21310273) identified 18 different mutations in the GFPT1 gene. All mutations were homozygous or compound heterozygous.
Congenital myaesthenic syndrome v1.39 GFPT1 Louise Daugherty Publications for gene: GFPT1 were set to 21975507; In 13 unrelated families with autosomal recessive congenital myasthenic syndrome-12 (CMS12, OMIM:610542), Senderek et al. (2011, PMID:21310273) identified 18 different mutations in the GFPT1 gene. All mutations were homozygous or compound heterozygous; 22230109; 23569079
Congenital myaesthenic syndrome v1.38 DOK7 Louise Daugherty Publications for gene: DOK7 were set to 16917026; 17452375; 22661499
Congenital myaesthenic syndrome v1.37 DOK7 Louise Daugherty commented on gene: DOK7: PMID: 16917026 (Beeson et al., 2006) identified a set of DOK7 mutations including a frameshift (rs606231128) in 16 of 21 patients with congenital myasthenic syndrome-10 (CMS10, OMIM:254300); PMID:17452375;22661499;18626973 Among 16 patients with CMS10, Selcen et al. (2008) identified 17 different mutations in the DOK7 gene.
Mitochondrial disorder with complex III deficiency v0.25 UQCRQ Ellen McDonagh Marked gene: UQCRQ as ready
Mitochondrial disorder with complex III deficiency v0.25 UQCRQ Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex III deficiency v0.25 UQCRQ Ellen McDonagh Gene: uqcrq has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex III deficiency v0.25 UQCRQ Ellen McDonagh Publications for gene: UQCRQ were set to
Congenital myaesthenic syndrome v1.37 DOK7 Louise Daugherty Publications for gene: DOK7 were set to 16917026 (Beeson et al., 2006) identified a set of DOK7 mutations including a frameshift (rs606231128) in 16 of 21 patients with congenital myasthenic syndrome-10 (CMS10, OMIM:254300); 17452375; 22661499; 18626973 Among 16 patients with CMS10, Selcen et al. (2008) identified 17 different mutations in the DOK7 gene.
Mitochondrial disorder with complex III deficiency v0.24 UQCRH Ellen McDonagh Marked gene: UQCRH as ready
Mitochondrial disorder with complex III deficiency v0.24 UQCRH Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex III deficiency v0.24 UQCRH Ellen McDonagh Gene: uqcrh has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex III deficiency v0.24 UQCRH Ellen McDonagh Mode of inheritance for gene: UQCRH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex III deficiency v0.23 UQCRFS1 Ellen McDonagh Marked gene: UQCRFS1 as ready
Mitochondrial disorder with complex III deficiency v0.23 UQCRFS1 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex III deficiency v0.23 UQCRFS1 Ellen McDonagh Gene: uqcrfs1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex III deficiency v0.23 UQCRC2 Ellen McDonagh Marked gene: UQCRC2 as ready
Mitochondrial disorder with complex III deficiency v0.23 UQCRC2 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex III deficiency v0.23 UQCRC2 Ellen McDonagh Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex III deficiency v0.23 UQCRC2 Ellen McDonagh Publications for gene: UQCRC2 were set to
Adult onset hereditary spastic paraplegia v0.53 UCHL1 Nick Beauchamp reviewed gene: UCHL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29735986, 28007905, 23359680; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.74 UCHL1 Nick Beauchamp reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29735986, 28007905, 23359680; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex III deficiency v0.22 UQCRC1 Ellen McDonagh Marked gene: UQCRC1 as ready
Mitochondrial disorder with complex III deficiency v0.22 UQCRC1 Ellen McDonagh Gene: uqcrc1 has been classified as Amber List (Moderate Evidence).
Congenital myaesthenic syndrome v1.36 CHRND Louise Daugherty Publications for gene: CHRND were set to 16916845
11782989
11435464
Mitochondrial disorder with complex III deficiency v0.22 UQCRC1 Ellen McDonagh Classified gene: UQCRC1 as Amber List (moderate evidence)
Mitochondrial disorder with complex III deficiency v0.22 UQCRC1 Ellen McDonagh Added comment: Comment on list classification: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex III deficiency v0.22 UQCRC1 Ellen McDonagh Gene: uqcrc1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex III deficiency v0.21 UQCRB Ellen McDonagh Marked gene: UQCRB as ready
Mitochondrial disorder with complex III deficiency v0.21 UQCRB Ellen McDonagh Gene: uqcrb has been classified as Green List (High Evidence).
Mitochondrial disorder with complex III deficiency v0.21 UQCRB Ellen McDonagh Classified gene: UQCRB as Green List (high evidence)
Mitochondrial disorder with complex III deficiency v0.21 UQCRB Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. Two unrelated cases reported (both with deletions) and supporting functional evidence.
Mitochondrial disorder with complex III deficiency v0.21 UQCRB Ellen McDonagh Gene: uqcrb has been classified as Green List (High Evidence).
Mitochondrial disorder with complex III deficiency v0.20 UQCRB Ellen McDonagh Publications for gene: UQCRB were set to
Mitochondrial disorder with complex III deficiency v0.19 UQCR11 Ellen McDonagh Marked gene: UQCR11 as ready
Mitochondrial disorder with complex III deficiency v0.19 UQCR11 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex III deficiency v0.19 UQCR11 Ellen McDonagh Gene: uqcr11 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex III deficiency v0.19 UQCR10 Ellen McDonagh Marked gene: UQCR10 as ready
Mitochondrial disorder with complex III deficiency v0.19 UQCR10 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex III deficiency v0.19 UQCR10 Ellen McDonagh Gene: uqcr10 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex III deficiency v0.19 UQCC3 Ellen McDonagh Marked gene: UQCC3 as ready
Mitochondrial disorder with complex III deficiency v0.19 UQCC3 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex III deficiency v0.19 UQCC3 Ellen McDonagh Gene: uqcc3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex III deficiency v0.19 UQCC3 Ellen McDonagh Publications for gene: UQCC3 were set to
Mitochondrial disorder with complex III deficiency v0.18 UQCC2 Ellen McDonagh Marked gene: UQCC2 as ready
Mitochondrial disorder with complex III deficiency v0.18 UQCC2 Ellen McDonagh Gene: uqcc2 has been classified as Green List (High Evidence).
Mitochondrial disorder with complex III deficiency v0.18 UQCC2 Ellen McDonagh Classified gene: UQCC2 as Green List (high evidence)
Mitochondrial disorder with complex III deficiency v0.18 UQCC2 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. Two unrelated cases reported, with functional supporting evidence.
Mitochondrial disorder with complex III deficiency v0.18 UQCC2 Ellen McDonagh Gene: uqcc2 has been classified as Green List (High Evidence).
Mitochondrial disorder with complex III deficiency v0.17 UQCC2 Ellen McDonagh Publications for gene: UQCC2 were set to
Mitochondrial disorder with complex III deficiency v0.16 UQCC1 Ellen McDonagh Marked gene: UQCC1 as ready
Mitochondrial disorder with complex III deficiency v0.16 UQCC1 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex III deficiency v0.16 UQCC1 Ellen McDonagh Gene: uqcc1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex III deficiency v0.16 UQCRQ Carl Fratter reviewed gene: UQCRQ: Rating: AMBER; Mode of pathogenicity: ; Publications: 18439546; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4, 615159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex III deficiency v0.16 UQCRH Carl Fratter reviewed gene: UQCRH: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex III deficiency v0.16 UQCRFS1 Carl Fratter reviewed gene: UQCRFS1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex III deficiency v0.16 UQCRC2 Carl Fratter reviewed gene: UQCRC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 28275242, 23281071; Phenotypes: Mitochondrial complex III deficiency, nuclear type 5, 615160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex III deficiency v0.16 UQCRC1 Carl Fratter reviewed gene: UQCRC1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex III deficiency v0.16 UQCRB Carl Fratter reviewed gene: UQCRB: Rating: GREEN; Mode of pathogenicity: ; Publications: 12709789, 25446085, 28604960; Phenotypes: Mitochondrial complex III deficiency, nuclear type 3, 615158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex III deficiency v0.16 UQCR11 Carl Fratter reviewed gene: UQCR11: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex III deficiency v0.16 UQCR10 Carl Fratter reviewed gene: UQCR10: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex III deficiency v0.16 UQCC3 Carl Fratter reviewed gene: UQCC3: Rating: AMBER; Mode of pathogenicity: ; Publications: 25008109; Phenotypes: ?Mitochondrial complex III deficiency, nuclear type 9, 616111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex III deficiency v0.16 UQCC2 Carl Fratter reviewed gene: UQCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28804536, 24385928; Phenotypes: Mitochondrial complex III deficiency, nuclear type 7, 615824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex III deficiency v0.16 UQCC1 Carl Fratter reviewed gene: UQCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Adult onset hereditary spastic paraplegia v0.53 WDR45B Nick Beauchamp reviewed gene: WDR45B: Rating: AMBER; Mode of pathogenicity: None; Publications: 21937992, 28503735; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.74 WDR45B Nick Beauchamp reviewed gene: WDR45B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.74 VAMP1 Nick Beauchamp reviewed gene: VAMP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 22958904, 27957547; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 VAMP1 Nick Beauchamp reviewed gene: VAMP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 22958904, 27957547; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mitochondrial disorder with complex II deficiency v0.16 SDHD Ellen McDonagh Marked gene: SDHD as ready
Mitochondrial disorder with complex II deficiency v0.16 SDHD Ellen McDonagh Gene: sdhd has been classified as Green List (High Evidence).
Mitochondrial disorder with complex II deficiency v0.16 SDHD Ellen McDonagh Classified gene: SDHD as Green List (high evidence)
Mitochondrial disorder with complex II deficiency v0.16 SDHD Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. Two unrelated cases reported (three different variants) with functional evidence.
Mitochondrial disorder with complex II deficiency v0.16 SDHD Ellen McDonagh Gene: sdhd has been classified as Green List (High Evidence).
Mitochondrial disorder with complex II deficiency v0.15 SDHD Ellen McDonagh Publications for gene: SDHD were set to
Mitochondrial disorder with complex II deficiency v0.14 SDHC Ellen McDonagh Marked gene: SDHC as ready
Mitochondrial disorder with complex II deficiency v0.14 SDHC Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex II deficiency v0.14 SDHC Ellen McDonagh Gene: sdhc has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex II deficiency v0.14 SDHB Ellen McDonagh Marked gene: SDHB as ready
Mitochondrial disorder with complex II deficiency v0.14 SDHB Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex II deficiency v0.14 SDHB Ellen McDonagh Gene: sdhb has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex II deficiency v0.14 SDHAF4 Ellen McDonagh Marked gene: SDHAF4 as ready
Mitochondrial disorder with complex II deficiency v0.14 SDHAF4 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex II deficiency v0.14 SDHAF4 Ellen McDonagh Gene: sdhaf4 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex II deficiency v0.14 SDHAF3 Ellen McDonagh Marked gene: SDHAF3 as ready
Mitochondrial disorder with complex II deficiency v0.14 SDHAF3 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex II deficiency v0.14 SDHAF3 Ellen McDonagh Gene: sdhaf3 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.74 WASHC5 Nick Beauchamp reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 WASHC5 Nick Beauchamp reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 17160902, 23455931; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mitochondrial disorder with complex II deficiency v0.14 SDHAF2 Ellen McDonagh Marked gene: SDHAF2 as ready
Mitochondrial disorder with complex II deficiency v0.14 SDHAF2 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex II deficiency v0.14 SDHAF2 Ellen McDonagh Gene: sdhaf2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex II deficiency v0.14 SDHAF1 Ellen McDonagh Marked gene: SDHAF1 as ready
Mitochondrial disorder with complex II deficiency v0.14 SDHAF1 Ellen McDonagh Gene: sdhaf1 has been classified as Green List (High Evidence).
Mitochondrial disorder with complex II deficiency v0.14 SDHAF1 Ellen McDonagh Classified gene: SDHAF1 as Green List (high evidence)
Mitochondrial disorder with complex II deficiency v0.14 SDHAF1 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. At least 3 families reported.
Mitochondrial disorder with complex II deficiency v0.14 SDHAF1 Ellen McDonagh Gene: sdhaf1 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.74 TUBB4A Nick Beauchamp reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset hereditary spastic paraplegia v0.53 TUBB4A Nick Beauchamp reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disorder with complex II deficiency v0.13 SDHAF1 Ellen McDonagh Publications for gene: SDHAF1 were set to
Mitochondrial disorder with complex II deficiency v0.12 SDHD Carl Fratter reviewed gene: SDHD: Rating: GREEN; Mode of pathogenicity: ; Publications: 24367056, 26008905; Phenotypes: Mitochondrial respiratory chain complex II deficiency, 252011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex II deficiency v0.12 SDHC Carl Fratter reviewed gene: SDHC: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex II deficiency v0.12 SDHB Carl Fratter reviewed gene: SDHB: Rating: AMBER; Mode of pathogenicity: ; Publications: 22972948; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex II deficiency v0.12 SDHAF4 Carl Fratter reviewed gene: SDHAF4: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex II deficiency v0.12 SDHAF3 Carl Fratter reviewed gene: SDHAF3: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex II deficiency v0.12 SDHAF2 Carl Fratter reviewed gene: SDHAF2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex II deficiency v0.12 SDHAF1 Carl Fratter reviewed gene: SDHAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19465911, 22995659, 26642834; Phenotypes: Mitochondrial respiratory chain complex II deficiency, 252011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.74 TFG Nick Beauchamp reviewed gene: TFG: Rating: GREEN; Mode of pathogenicity: None; Publications: 23479643, 27601211, 28124177, 27492651; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 TFG Nick Beauchamp reviewed gene: TFG: Rating: GREEN; Mode of pathogenicity: None; Publications: 23479643, 27601211, 28124177, 27492651; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disorder with complex I deficiency v0.65 TIMMDC1 Ellen McDonagh Classified gene: TIMMDC1 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.65 TIMMDC1 Ellen McDonagh Added comment: Comment on list classification: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex I deficiency v0.65 TIMMDC1 Ellen McDonagh Gene: timmdc1 has been classified as Amber List (Moderate Evidence).
Adult onset hereditary spastic paraplegia v0.53 TECPR2 Nick Beauchamp reviewed gene: TECPR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23176824, 26542466; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 TECPR2 Nick Beauchamp reviewed gene: TECPR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23176824, 26542466; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disorder with complex I deficiency v0.64 NDUFV3 Ellen McDonagh Marked gene: NDUFV3 as ready
Mitochondrial disorder with complex I deficiency v0.64 NDUFV3 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex I deficiency v0.64 NDUFV3 Ellen McDonagh Gene: ndufv3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.64 NDUFS5 Ellen McDonagh Marked gene: NDUFS5 as ready
Mitochondrial disorder with complex I deficiency v0.64 NDUFS5 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex I deficiency v0.64 NDUFS5 Ellen McDonagh Gene: ndufs5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.64 NDUFC2 Ellen McDonagh Marked gene: NDUFC2 as ready
Mitochondrial disorder with complex I deficiency v0.64 NDUFC2 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex I deficiency v0.64 NDUFC2 Ellen McDonagh Gene: ndufc2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.64 NDUFC1 Ellen McDonagh Marked gene: NDUFC1 as ready
Mitochondrial disorder with complex I deficiency v0.64 NDUFC1 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex I deficiency v0.64 NDUFC1 Ellen McDonagh Gene: ndufc1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.64 NDUFB9 Ellen McDonagh Marked gene: NDUFB9 as ready
Mitochondrial disorder with complex I deficiency v0.64 NDUFB9 Ellen McDonagh Gene: ndufb9 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.64 NDUFB9 Ellen McDonagh Classified gene: NDUFB9 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.64 NDUFB9 Ellen McDonagh Added comment: Comment on list classification: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex I deficiency v0.64 NDUFB9 Ellen McDonagh Gene: ndufb9 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.63 NDUFB8 Ellen McDonagh Marked gene: NDUFB8 as ready
Mitochondrial disorder with complex I deficiency v0.63 NDUFB8 Ellen McDonagh Gene: ndufb8 has been classified as Green List (High Evidence).
Mitochondrial disorder with complex I deficiency v0.63 NDUFB8 Ellen McDonagh Classified gene: NDUFB8 as Green List (high evidence)
Mitochondrial disorder with complex I deficiency v0.63 NDUFB8 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex I deficiency v0.63 NDUFB8 Ellen McDonagh Gene: ndufb8 has been classified as Green List (High Evidence).
Mitochondrial disorder with complex I deficiency v0.62 NDUFB8 Ellen McDonagh Publications for gene: NDUFB8 were set to
Mitochondrial disorder with complex I deficiency v0.61 NDUFB7 Ellen McDonagh Marked gene: NDUFB7 as ready
Mitochondrial disorder with complex I deficiency v0.61 NDUFB7 Ellen McDonagh Gene: ndufb7 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.61 NDUFB7 Ellen McDonagh Classified gene: NDUFB7 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.61 NDUFB7 Ellen McDonagh Added comment: Comment on list classification: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex I deficiency v0.61 NDUFB7 Ellen McDonagh Gene: ndufb7 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.60 NDUFB6 Ellen McDonagh Marked gene: NDUFB6 as ready
Mitochondrial disorder with complex I deficiency v0.60 NDUFB6 Ellen McDonagh Gene: ndufb6 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.60 NDUFB6 Ellen McDonagh Classified gene: NDUFB6 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.60 NDUFB6 Ellen McDonagh Added comment: Comment on list classification: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex I deficiency v0.60 NDUFB6 Ellen McDonagh Gene: ndufb6 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.59 NDUFB5 Ellen McDonagh Marked gene: NDUFB5 as ready
Mitochondrial disorder with complex I deficiency v0.59 NDUFB5 Ellen McDonagh Gene: ndufb5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.59 NDUFB5 Ellen McDonagh Classified gene: NDUFB5 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.59 NDUFB5 Ellen McDonagh Added comment: Comment on list classification: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex I deficiency v0.59 NDUFB5 Ellen McDonagh Gene: ndufb5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.58 NDUFB4 Ellen McDonagh Marked gene: NDUFB4 as ready
Mitochondrial disorder with complex I deficiency v0.58 NDUFB4 Ellen McDonagh Gene: ndufb4 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.58 NDUFB4 Ellen McDonagh Publications for gene: NDUFB4 were set to
Mitochondrial disorder with complex I deficiency v0.57 NDUFB4 Ellen McDonagh Mode of inheritance for gene: NDUFB4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.56 NDUFB4 Ellen McDonagh Classified gene: NDUFB4 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.56 NDUFB4 Ellen McDonagh Added comment: Comment on list classification: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex I deficiency v0.56 NDUFB4 Ellen McDonagh Gene: ndufb4 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.55 NDUFB2 Ellen McDonagh Marked gene: NDUFB2 as ready
Mitochondrial disorder with complex I deficiency v0.55 NDUFB2 Ellen McDonagh Gene: ndufb2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.55 NDUFB2 Ellen McDonagh Classified gene: NDUFB2 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.55 NDUFB2 Ellen McDonagh Added comment: Comment on list classification: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex I deficiency v0.55 NDUFB2 Ellen McDonagh Gene: ndufb2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.54 NDUFB10 Ellen McDonagh Marked gene: NDUFB10 as ready
Mitochondrial disorder with complex I deficiency v0.54 NDUFB10 Ellen McDonagh Gene: ndufb10 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.54 NDUFB10 Ellen McDonagh Classified gene: NDUFB10 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.54 NDUFB10 Ellen McDonagh Added comment: Comment on list classification: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex I deficiency v0.54 NDUFB10 Ellen McDonagh Gene: ndufb10 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.53 NDUFB1 Ellen McDonagh Marked gene: NDUFB1 as ready
Mitochondrial disorder with complex I deficiency v0.53 NDUFB1 Ellen McDonagh Gene: ndufb1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.53 NDUFB1 Ellen McDonagh Classified gene: NDUFB1 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.53 NDUFB1 Ellen McDonagh Added comment: Comment on list classification: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex I deficiency v0.53 NDUFB1 Ellen McDonagh Gene: ndufb1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.52 NDUFAF8 Ellen McDonagh Marked gene: NDUFAF8 as ready
Mitochondrial disorder with complex I deficiency v0.52 NDUFAF8 Ellen McDonagh Gene: ndufaf8 has been classified as Green List (High Evidence).
Mitochondrial disorder with complex I deficiency v0.52 NDUFAF8 Ellen McDonagh Classified gene: NDUFAF8 as Green List (high evidence)
Mitochondrial disorder with complex I deficiency v0.52 NDUFAF8 Ellen McDonagh Added comment: Comment on list classification: Promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex I deficiency v0.52 NDUFAF8 Ellen McDonagh Gene: ndufaf8 has been classified as Green List (High Evidence).
Mitochondrial disorder with complex I deficiency v0.51 NDUFAF7 Ellen McDonagh Marked gene: NDUFAF7 as ready
Mitochondrial disorder with complex I deficiency v0.51 NDUFAF7 Ellen McDonagh Gene: ndufaf7 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.51 NDUFAF7 Ellen McDonagh Classified gene: NDUFAF7 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.51 NDUFAF7 Ellen McDonagh Added comment: Comment on list classification: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex I deficiency v0.51 NDUFAF7 Ellen McDonagh Gene: ndufaf7 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.50 NDUFAB1 Ellen McDonagh Marked gene: NDUFAB1 as ready
Mitochondrial disorder with complex I deficiency v0.50 NDUFAB1 Ellen McDonagh Gene: ndufab1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.50 NDUFAB1 Ellen McDonagh Classified gene: NDUFAB1 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.50 NDUFAB1 Ellen McDonagh Added comment: Comment on list classification: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex I deficiency v0.50 NDUFAB1 Ellen McDonagh Gene: ndufab1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.49 NDUFA9 Ellen McDonagh Marked gene: NDUFA9 as ready
Mitochondrial disorder with complex I deficiency v0.49 NDUFA9 Ellen McDonagh Gene: ndufa9 has been classified as Green List (High Evidence).
Mitochondrial disorder with complex I deficiency v0.49 NDUFA9 Ellen McDonagh Classified gene: NDUFA9 as Green List (high evidence)
Mitochondrial disorder with complex I deficiency v0.49 NDUFA9 Ellen McDonagh Gene: ndufa9 has been classified as Green List (High Evidence).
Mitochondrial disorder with complex I deficiency v0.48 NDUFA9 Ellen McDonagh Classified gene: NDUFA9 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.48 NDUFA9 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. Two unrelated families, with functional evidence.
Mitochondrial disorder with complex I deficiency v0.48 NDUFA9 Ellen McDonagh Gene: ndufa9 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.47 NDUFA8 Ellen McDonagh Marked gene: NDUFA8 as ready
Mitochondrial disorder with complex I deficiency v0.47 NDUFA8 Ellen McDonagh Gene: ndufa8 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.47 NDUFA8 Ellen McDonagh Publications for gene: NDUFA8 were set to
Mitochondrial disorder with complex I deficiency v0.46 NDUFA8 Ellen McDonagh Classified gene: NDUFA8 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.46 NDUFA8 Ellen McDonagh Added comment: Comment on list classification: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex I deficiency v0.46 NDUFA8 Ellen McDonagh Gene: ndufa8 has been classified as Amber List (Moderate Evidence).
Adult onset hereditary spastic paraplegia v0.53 SPG7 Nick Beauchamp reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disorder with complex I deficiency v0.45 NDUFA7 Ellen McDonagh Marked gene: NDUFA7 as ready
Mitochondrial disorder with complex I deficiency v0.45 NDUFA7 Ellen McDonagh Gene: ndufa7 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.45 NDUFA7 Ellen McDonagh Classified gene: NDUFA7 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.45 NDUFA7 Ellen McDonagh Added comment: Comment on list classification: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex I deficiency v0.45 NDUFA7 Ellen McDonagh Gene: ndufa7 has been classified as Amber List (Moderate Evidence).
Adult onset hereditary spastic paraplegia v0.53 SPG21 Nick Beauchamp commented on gene: SPG21: Adult onset, three families reported. No additional patients identified using Sheffield panel.
Childhood onset hereditary spastic paraplegia v1.74 SPG7 Nick Beauchamp reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 SPG21 Nick Beauchamp reviewed gene: SPG21: Rating: GREEN; Mode of pathogenicity: None; Publications: 14564668, 28752238, 24451228; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 SPG21 Nick Beauchamp reviewed gene: SPG21: Rating: GREEN; Mode of pathogenicity: None; Publications: 14564668, 28752238, 24451228; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disorder with complex I deficiency v0.44 NDUFA6 Ellen McDonagh Marked gene: NDUFA6 as ready
Mitochondrial disorder with complex I deficiency v0.44 NDUFA6 Ellen McDonagh Gene: ndufa6 has been classified as Green List (High Evidence).
Mitochondrial disorder with complex I deficiency v0.44 NDUFA6 Ellen McDonagh Classified gene: NDUFA6 as Green List (high evidence)
Mitochondrial disorder with complex I deficiency v0.44 NDUFA6 Ellen McDonagh Added comment: Comment on list classification: This gene has been promoted to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. PMID: 30245030 reports four unrelated children who presented with neuroradiological findings and/or elevated lactate levels, with biallelic variants in this gene, plus functional studies.
Mitochondrial disorder with complex I deficiency v0.44 NDUFA6 Ellen McDonagh Gene: ndufa6 has been classified as Green List (High Evidence).
Adult onset hereditary spastic paraplegia v0.53 SPG11 Nick Beauchamp reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 SPG11 Nick Beauchamp reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 SPAST Nick Beauchamp reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 SPAST Nick Beauchamp reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 SLC2A1 Nick Beauchamp reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mitochondrial disorder with complex I deficiency v0.43 NDUFA6 Ellen McDonagh Publications for gene: NDUFA6 were set to
Mitochondrial disorder with complex I deficiency v0.42 NDUFA5 Ellen McDonagh Marked gene: NDUFA5 as ready
Mitochondrial disorder with complex I deficiency v0.42 NDUFA5 Ellen McDonagh Gene: ndufa5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.42 NDUFA5 Ellen McDonagh Classified gene: NDUFA5 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.42 NDUFA5 Ellen McDonagh Added comment: Comment on list classification: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex I deficiency v0.42 NDUFA5 Ellen McDonagh Gene: ndufa5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.41 NDUFA3 Ellen McDonagh Marked gene: NDUFA3 as ready
Mitochondrial disorder with complex I deficiency v0.41 NDUFA3 Ellen McDonagh Gene: ndufa3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.41 NDUFA3 Ellen McDonagh Classified gene: NDUFA3 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.41 NDUFA3 Ellen McDonagh Added comment: Comment on list classification: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex I deficiency v0.41 NDUFA3 Ellen McDonagh Gene: ndufa3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.40 NDUFA13 Ellen McDonagh Marked gene: NDUFA13 as ready
Mitochondrial disorder with complex I deficiency v0.40 NDUFA13 Ellen McDonagh Gene: ndufa13 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.40 NDUFA13 Ellen McDonagh Publications for gene: NDUFA13 were set to
Mitochondrial disorder with complex I deficiency v0.39 NDUFA13 Ellen McDonagh Classified gene: NDUFA13 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.39 NDUFA13 Ellen McDonagh Added comment: Comment on list classification: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex I deficiency v0.39 NDUFA13 Ellen McDonagh Gene: ndufa13 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.38 NDUFA12 Ellen McDonagh Marked gene: NDUFA12 as ready
Mitochondrial disorder with complex I deficiency v0.38 NDUFA12 Ellen McDonagh Gene: ndufa12 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.38 NDUFA12 Ellen McDonagh Publications for gene: NDUFA12 were set to
Mitochondrial disorder with complex I deficiency v0.37 NDUFA12 Ellen McDonagh Classified gene: NDUFA12 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.37 NDUFA12 Ellen McDonagh Added comment: Comment on list classification: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex I deficiency v0.37 NDUFA12 Ellen McDonagh Gene: ndufa12 has been classified as Amber List (Moderate Evidence).
Adult onset hereditary spastic paraplegia v0.53 SPART Nick Beauchamp reviewed gene: SPART: Rating: AMBER; Mode of pathogenicity: None; Publications: 12134148, 18413476, 26003402, 20301556; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disorder with complex I deficiency v0.36 TIMMDC1 Carl Fratter reviewed gene: TIMMDC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28604674; Phenotypes: Mitochondrial complex I deficiency, nuclear type 31, 618251; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.36 NDUFV3 Carl Fratter reviewed gene: NDUFV3: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.36 NDUFS5 Carl Fratter reviewed gene: NDUFS5: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.36 NDUFC2 Carl Fratter reviewed gene: NDUFC2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.36 NDUFC1 Carl Fratter reviewed gene: NDUFC1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.36 NDUFB9 Carl Fratter reviewed gene: NDUFB9: Rating: AMBER; Mode of pathogenicity: ; Publications: 22200994; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 24, 618245; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.36 NDUFB8 Carl Fratter reviewed gene: NDUFB8: Rating: GREEN; Mode of pathogenicity: ; Publications: 27290639, 29429571; Phenotypes: Mitochondrial complex I deficiency, nuclear type 32, 618252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.36 NDUFB7 Carl Fratter reviewed gene: NDUFB7: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.36 NDUFB6 Carl Fratter reviewed gene: NDUFB6: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.36 NDUFB5 Carl Fratter reviewed gene: NDUFB5: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.36 NDUFB4 Carl Fratter reviewed gene: NDUFB4: Rating: AMBER; Mode of pathogenicity: ; Publications: 28454995; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.36 NDUFB2 Carl Fratter reviewed gene: NDUFB2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.36 NDUFB10 Carl Fratter reviewed gene: NDUFB10: Rating: AMBER; Mode of pathogenicity: ; Publications: 28040730; Phenotypes: Mitochondrial complex I deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.36 NDUFB1 Carl Fratter reviewed gene: NDUFB1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.36 NDUFAF8 Carl Fratter reviewed gene: NDUFAF8: Rating: GREEN; Mode of pathogenicity: ; Publications: 27499296; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.36 NDUFAF7 Carl Fratter reviewed gene: NDUFAF7: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.36 NDUFAB1 Carl Fratter reviewed gene: NDUFAB1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.36 NDUFA9 Carl Fratter reviewed gene: NDUFA9: Rating: GREEN; Mode of pathogenicity: ; Publications: 22114105, 28671271; Phenotypes: Mitochondrial complex I deficiency, nuclear type 26, 618247; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.36 NDUFA8 Carl Fratter reviewed gene: NDUFA8: Rating: AMBER; Mode of pathogenicity: ; Publications: 15576045; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.36 NDUFA7 Carl Fratter reviewed gene: NDUFA7: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.36 NDUFA6 Carl Fratter reviewed gene: NDUFA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 30245030; Phenotypes: Mitochondrial complex I deficiency, nuclear type 33, 618253; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.36 NDUFA5 Carl Fratter reviewed gene: NDUFA5: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.36 NDUFA3 Carl Fratter reviewed gene: NDUFA3: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.36 NDUFA13 Carl Fratter reviewed gene: NDUFA13: Rating: AMBER; Mode of pathogenicity: ; Publications: 25901006; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 28, 618249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.36 NDUFA12 Carl Fratter reviewed gene: NDUFA12: Rating: AMBER; Mode of pathogenicity: ; Publications: 21617257; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 23, 618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.74 SPART Nick Beauchamp reviewed gene: SPART: Rating: GREEN; Mode of pathogenicity: None; Publications: 12134148, 18413476, 26003402, 20301556; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 SLC25A46 Nick Beauchamp reviewed gene: SLC25A46: Rating: RED; Mode of pathogenicity: None; Publications: 28369803; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.74 SLC25A46 Nick Beauchamp reviewed gene: SLC25A46: Rating: RED; Mode of pathogenicity: None; Publications: 28369803; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.53 SLC33A1 Nick Beauchamp reviewed gene: SLC33A1: Rating: RED; Mode of pathogenicity: None; Publications: 19061983, 25402622; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 SLC33A1 Nick Beauchamp reviewed gene: SLC33A1: Rating: RED; Mode of pathogenicity: None; Publications: 19061983, 25402622; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 SLC1A4 Nick Beauchamp reviewed gene: SLC1A4: Rating: AMBER; Mode of pathogenicity: None; Publications: 29989513, 27193218, 26138499, 26041762, 25930971; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.74 SLC1A4 Nick Beauchamp reviewed gene: SLC1A4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.53 SLC16A2 Nick Beauchamp reviewed gene: SLC16A2: Rating: AMBER; Mode of pathogenicity: None; Publications: 14661163, 19194886; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Childhood onset hereditary spastic paraplegia v1.74 SLC16A2 Nick Beauchamp reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14661163, 19194886; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 SERAC1 Nick Beauchamp reviewed gene: SERAC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29205472, 22683713, 16527507, 28482397, 28778788, 27186703, 27604308; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.74 SERAC1 Nick Beauchamp reviewed gene: SERAC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.53 SACS Nick Beauchamp reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: None; Publications: 10655055, 20876471; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 SACS Nick Beauchamp reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: None; Publications: 10655055, 20876471; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 RTN2 Nick Beauchamp reviewed gene: RTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22232211, 24123792, 28362824; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 RTN2 Nick Beauchamp reviewed gene: RTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22232211, 24123792, 28362824; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 REEP2 Nick Beauchamp reviewed gene: REEP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24388663, 28491902, 24482476; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 REEP2 Nick Beauchamp reviewed gene: REEP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24388663, 28491902, 24482476; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 REEP1 Nick Beauchamp reviewed gene: REEP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826527, 18321925; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 REEP1 Nick Beauchamp reviewed gene: REEP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826527, 18321925; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 PSEN1 Nick Beauchamp reviewed gene: PSEN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22517194; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 PSEN1 Nick Beauchamp reviewed gene: PSEN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 PNPLA6 Nick Beauchamp reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 18313024, 24355708, 23733235; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 PNPLA6 Nick Beauchamp reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 18313024, 24355708, 23733235; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 PLP1 Nick Beauchamp reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8012387, 11093273, 7488049; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 PLP1 Nick Beauchamp reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8012387, 11093273, 7488049; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 KDM5C Nick Beauchamp reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: None; Publications: 10982473, 15586325, 26919706, 18697827; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 KDM5C Nick Beauchamp reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: None; Publications: 10982473, 15586325, 26919706, 18697827; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 MTPAP Nick Beauchamp reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: None; Publications: 20970105, 27391121; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 MTPAP Nick Beauchamp reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: None; Publications: 20970105, 27391121; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 MARS2 Nick Beauchamp reviewed gene: MARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22448145; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 MARS2 Nick Beauchamp reviewed gene: MARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22448145; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 MAG Nick Beauchamp reviewed gene: MAG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 MAG Nick Beauchamp reviewed gene: MAG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 KIF1C Nick Beauchamp reviewed gene: KIF1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 24319291, 24808017; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hypotonic infant v3.273 Ellen McDonagh Panel name changed from Hypotonic infant to Hypotonic infant with a likely central cause
List of related panels changed from Floppy infant with a likely central cause to Floppy infant with a likely central cause; Hypotonic infant
Adult onset hereditary spastic paraplegia v0.53 KIF1C Nick Beauchamp reviewed gene: KIF1C: Rating: AMBER; Mode of pathogenicity: None; Publications: 24482476, 24319291, 24808017; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 OPA3 Nick Beauchamp reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.74 OPA3 Nick Beauchamp reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.74 NT5C2 Nick Beauchamp reviewed gene: NT5C2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 28327087, 28884889, 29123918; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 NT5C2 Nick Beauchamp reviewed gene: NT5C2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24482476, 28327087, 28884889, 29123918; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 NKX6-2 Nick Beauchamp reviewed gene: NKX6-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575651, 15601927, 29388673; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.53 NKX6-2 Nick Beauchamp reviewed gene: NKX6-2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28575651, 15601927, 29388673; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.53 LYST Nick Beauchamp reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 LYST Nick Beauchamp reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 NIPA1 Nick Beauchamp reviewed gene: NIPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15711826, 14508710, 15643603; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 NIPA1 Nick Beauchamp reviewed gene: NIPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15711826, 14508710, 15643603; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 L1CAM Nick Beauchamp reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 7920659, 7920660, 7562969; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 L1CAM Nick Beauchamp reviewed gene: L1CAM: Rating: AMBER; Mode of pathogenicity: None; Publications: 7920659, 7920660, 7562969; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 KIF5A Nick Beauchamp reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 12355402, 16476820; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 KIF5A Nick Beauchamp reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 12355402, 16476820; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 KCNA2 Nick Beauchamp reviewed gene: KCNA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27543892, 28032718; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset hereditary spastic paraplegia v0.53 KCNA2 Nick Beauchamp reviewed gene: KCNA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27543892, 28032718; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset hereditary spastic paraplegia v0.53 KIF1A Nick Beauchamp reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21487076, 22258533, 28362824; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 KIF1A Nick Beauchamp reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21487076, 22258533, 28362824; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 IBA57 Nick Beauchamp reviewed gene: IBA57: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 IBA57 Nick Beauchamp reviewed gene: IBA57: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 KIDINS220 Nick Beauchamp reviewed gene: KIDINS220: Rating: AMBER; Mode of pathogenicity: None; Publications: 27005418, 29667355; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset hereditary spastic paraplegia v1.74 KIDINS220 Nick Beauchamp reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: None; Publications: 27005418, 29667355; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset hereditary spastic paraplegia v1.74 GJC2 Nick Beauchamp reviewed gene: GJC2: Rating: RED; Mode of pathogenicity: None; Publications: 19056803; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 GJC2 Nick Beauchamp reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19056803; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 GCH1 Nick Beauchamp reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 GCH1 Nick Beauchamp reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 HACE1 Nick Beauchamp reviewed gene: HACE1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26424145, 26437029; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.74 HACE1 Nick Beauchamp reviewed gene: HACE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.80 YARS Louise Daugherty commented on gene: YARS: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 WNK1 Louise Daugherty commented on gene: WNK1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 WARS Louise Daugherty commented on gene: WARS: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 VCP Louise Daugherty commented on gene: VCP: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 TYMP Louise Daugherty commented on gene: TYMP: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 TUBB3 Louise Daugherty commented on gene: TUBB3: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 TTR Louise Daugherty commented on gene: TTR: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 TRPV4 Louise Daugherty commented on gene: TRPV4: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 TRPA1 Louise Daugherty commented on gene: TRPA1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 TRIM2 Louise Daugherty commented on gene: TRIM2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 TFG Louise Daugherty commented on gene: TFG: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 SYT2 Louise Daugherty commented on gene: SYT2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 SURF1 Louise Daugherty commented on gene: SURF1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 SPTLC2 Louise Daugherty commented on gene: SPTLC2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 SPTLC1 Louise Daugherty commented on gene: SPTLC1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 SPG11 Louise Daugherty commented on gene: SPG11: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 SPAST Louise Daugherty commented on gene: SPAST: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 SMN1 Louise Daugherty commented on gene: SMN1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 SLC5A7 Louise Daugherty commented on gene: SLC5A7: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 SLC52A3 Louise Daugherty commented on gene: SLC52A3: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 SLC52A2 Louise Daugherty commented on gene: SLC52A2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 SLC52A1 Louise Daugherty commented on gene: SLC52A1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 SLC12A6 Louise Daugherty commented on gene: SLC12A6: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 SIGMAR1 Louise Daugherty commented on gene: SIGMAR1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 SH3TC2 Louise Daugherty commented on gene: SH3TC2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 SETX Louise Daugherty commented on gene: SETX: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 SEPT9 Louise Daugherty commented on gene: SEPT9: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 SCN9A Louise Daugherty commented on gene: SCN9A: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 SCN11A Louise Daugherty commented on gene: SCN11A: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 SCN10A Louise Daugherty commented on gene: SCN10A: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 SBF2 Louise Daugherty commented on gene: SBF2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 SBF1 Louise Daugherty commented on gene: SBF1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 SACS Louise Daugherty commented on gene: SACS: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 RETREG1 Louise Daugherty commented on gene: RETREG1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 REEP1 Louise Daugherty commented on gene: REEP1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 RAB7A Louise Daugherty commented on gene: RAB7A: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 PRX Louise Daugherty commented on gene: PRX: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 PRPS1 Louise Daugherty commented on gene: PRPS1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 PRNP Louise Daugherty commented on gene: PRNP: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 PRDM12 Louise Daugherty commented on gene: PRDM12: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 POLG Louise Daugherty commented on gene: POLG: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 PMP22 Louise Daugherty commented on gene: PMP22: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 PMP2 Louise Daugherty commented on gene: PMP2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 PLEKHG5 Louise Daugherty commented on gene: PLEKHG5: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 PHYH Louise Daugherty commented on gene: PHYH: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 PEX7 Louise Daugherty commented on gene: PEX7: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 PDHA1 Louise Daugherty commented on gene: PDHA1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 NTRK1 Louise Daugherty commented on gene: NTRK1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 NGF Louise Daugherty commented on gene: NGF: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 NEFL Louise Daugherty commented on gene: NEFL: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 NEFH Louise Daugherty commented on gene: NEFH: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 NDRG1 Louise Daugherty commented on gene: NDRG1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 MTMR2 Louise Daugherty commented on gene: MTMR2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 MT-ATP6 Louise Daugherty commented on gene: MT-ATP6: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 MPZ Louise Daugherty commented on gene: MPZ: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 MPV17 Louise Daugherty commented on gene: MPV17: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 MORC2 Louise Daugherty commented on gene: MORC2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 MME Louise Daugherty commented on gene: MME: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 MFN2 Louise Daugherty commented on gene: MFN2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 MCM3AP Louise Daugherty commented on gene: MCM3AP: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 MARS Louise Daugherty commented on gene: MARS: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 LRSAM1 Louise Daugherty commented on gene: LRSAM1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 LMNA Louise Daugherty commented on gene: LMNA: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 LITAF Louise Daugherty commented on gene: LITAF: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 KIF5A Louise Daugherty commented on gene: KIF5A: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 KIF1A Louise Daugherty commented on gene: KIF1A: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 INF2 Louise Daugherty commented on gene: INF2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 IGHMBP2 Louise Daugherty commented on gene: IGHMBP2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 HSPB8 Louise Daugherty commented on gene: HSPB8: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 HSPB3 Louise Daugherty commented on gene: HSPB3: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 HSPB1 Louise Daugherty commented on gene: HSPB1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 HK1 Louise Daugherty commented on gene: HK1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 HINT1 Louise Daugherty commented on gene: HINT1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 HARS Louise Daugherty commented on gene: HARS: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 GNB4 Louise Daugherty commented on gene: GNB4: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 GLA Louise Daugherty commented on gene: GLA: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 GJB1 Louise Daugherty commented on gene: GJB1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 GDAP1 Louise Daugherty commented on gene: GDAP1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 GARS Louise Daugherty commented on gene: GARS: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 GAN Louise Daugherty commented on gene: GAN: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 FXN Louise Daugherty commented on gene: FXN: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 FIG4 Louise Daugherty commented on gene: FIG4: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 FGD4 Louise Daugherty commented on gene: FGD4: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 FBXO38 Louise Daugherty commented on gene: FBXO38: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 FBLN5 Louise Daugherty commented on gene: FBLN5: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 ELP1 Louise Daugherty commented on gene: ELP1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 EGR2 Louise Daugherty commented on gene: EGR2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 DYNC1H1 Louise Daugherty commented on gene: DYNC1H1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 DNMT1 Louise Daugherty commented on gene: DNMT1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 DNM2 Louise Daugherty commented on gene: DNM2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 DNAJB2 Louise Daugherty commented on gene: DNAJB2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 DCTN1 Louise Daugherty commented on gene: DCTN1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 COX6A1 Louise Daugherty commented on gene: COX6A1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 CNTNAP1 Louise Daugherty commented on gene: CNTNAP1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 CHCHD10 Louise Daugherty commented on gene: CHCHD10: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 CCT5 Louise Daugherty commented on gene: CCT5: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 C12orf65 Louise Daugherty commented on gene: C12orf65: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 BSCL2 Louise Daugherty commented on gene: BSCL2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 BICD2 Louise Daugherty commented on gene: BICD2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 ATP7A Louise Daugherty commented on gene: ATP7A: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 ATP1A1 Louise Daugherty commented on gene: ATP1A1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 ATM Louise Daugherty commented on gene: ATM: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 ATL3 Louise Daugherty commented on gene: ATL3: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 ATL1 Louise Daugherty commented on gene: ATL1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 ARHGEF10 Louise Daugherty commented on gene: ARHGEF10: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 APTX Louise Daugherty commented on gene: APTX: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 AIFM1 Louise Daugherty commented on gene: AIFM1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.80 AARS Louise Daugherty commented on gene: AARS: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 GBA2 Nick Beauchamp reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23332916, 24337409, 24252062; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 GBA2 Nick Beauchamp reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23332916, 24337409, 24252062; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Skeletal muscle channelopathy v0.7 SLC2A1 Louise Daugherty commented on gene: SLC2A1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Skeletal muscle channelopathy v0.7 SCN4A Louise Daugherty commented on gene: SCN4A: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Skeletal muscle channelopathy v0.7 KCNJ2 Louise Daugherty commented on gene: KCNJ2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Skeletal muscle channelopathy v0.7 CLCN1 Louise Daugherty commented on gene: CLCN1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Skeletal muscle channelopathy v0.7 CACNA1S Louise Daugherty commented on gene: CACNA1S: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Skeletal muscle channelopathy v0.7 CACNA1A Louise Daugherty commented on gene: CACNA1A: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Skeletal muscle channelopathy v0.7 ATP1A2 Louise Daugherty commented on gene: ATP1A2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 ZFYVE26 Louise Daugherty commented on gene: ZFYVE26: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 WDR45B Louise Daugherty commented on gene: WDR45B: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 WASHC5 Louise Daugherty commented on gene: WASHC5: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 VPS37A Louise Daugherty commented on gene: VPS37A: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 VAMP1 Louise Daugherty commented on gene: VAMP1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 UCHL1 Louise Daugherty commented on gene: UCHL1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 TUBB4A Louise Daugherty commented on gene: TUBB4A: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 TFG Louise Daugherty commented on gene: TFG: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 TECPR2 Louise Daugherty commented on gene: TECPR2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 SPG7 Louise Daugherty commented on gene: SPG7: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 SPG21 Louise Daugherty commented on gene: SPG21: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 SPG11 Louise Daugherty commented on gene: SPG11: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 SPAST Louise Daugherty commented on gene: SPAST: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 SPART Louise Daugherty commented on gene: SPART: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 SLC33A1 Louise Daugherty commented on gene: SLC33A1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 SLC25A46 Louise Daugherty commented on gene: SLC25A46: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 SLC1A4 Louise Daugherty commented on gene: SLC1A4: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 SLC16A2 Louise Daugherty commented on gene: SLC16A2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 SERAC1 Louise Daugherty commented on gene: SERAC1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 SACS Louise Daugherty commented on gene: SACS: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 RTN2 Louise Daugherty commented on gene: RTN2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 REEP2 Louise Daugherty commented on gene: REEP2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 REEP1 Louise Daugherty commented on gene: REEP1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 PSEN1 Louise Daugherty commented on gene: PSEN1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 POLR3A Louise Daugherty commented on gene: POLR3A: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 PNPLA6 Louise Daugherty commented on gene: PNPLA6: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 PLP1 Louise Daugherty commented on gene: PLP1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 OPA3 Louise Daugherty commented on gene: OPA3: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 NT5C2 Louise Daugherty commented on gene: NT5C2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 NKX6-2 Louise Daugherty commented on gene: NKX6-2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 NIPA1 Louise Daugherty commented on gene: NIPA1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 MTPAP Louise Daugherty commented on gene: MTPAP: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 MARS2 Louise Daugherty commented on gene: MARS2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 MAG Louise Daugherty commented on gene: MAG: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 LYST Louise Daugherty commented on gene: LYST: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 L1CAM Louise Daugherty commented on gene: L1CAM: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 KIF5A Louise Daugherty commented on gene: KIF5A: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 KIF1C Louise Daugherty commented on gene: KIF1C: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 KIF1A Louise Daugherty commented on gene: KIF1A: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 KIDINS220 Louise Daugherty commented on gene: KIDINS220: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 KDM5C Louise Daugherty commented on gene: KDM5C: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 KCNA2 Louise Daugherty commented on gene: KCNA2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 IBA57 Louise Daugherty commented on gene: IBA57: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 HSPD1 Louise Daugherty commented on gene: HSPD1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 HACE1 Louise Daugherty commented on gene: HACE1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 GJC2 Louise Daugherty commented on gene: GJC2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 GCH1 Louise Daugherty commented on gene: GCH1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 GBA2 Louise Daugherty commented on gene: GBA2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 FARS2 Louise Daugherty commented on gene: FARS2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 FA2H Louise Daugherty commented on gene: FA2H: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 ERLIN2 Louise Daugherty commented on gene: ERLIN2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 ERLIN1 Louise Daugherty commented on gene: ERLIN1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 DSTYK Louise Daugherty commented on gene: DSTYK: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 DDHD2 Louise Daugherty commented on gene: DDHD2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 DDHD1 Louise Daugherty commented on gene: DDHD1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 DARS Louise Daugherty commented on gene: DARS: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 CYP7B1 Louise Daugherty commented on gene: CYP7B1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 CYP2U1 Louise Daugherty commented on gene: CYP2U1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 CYP27A1 Louise Daugherty commented on gene: CYP27A1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 CPT1C Louise Daugherty commented on gene: CPT1C: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 CDK16 Louise Daugherty commented on gene: CDK16: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 CAPN1 Louise Daugherty commented on gene: CAPN1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 C19orf12 Louise Daugherty commented on gene: C19orf12: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 C12orf65 Louise Daugherty commented on gene: C12orf65: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 BSCL2 Louise Daugherty commented on gene: BSCL2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 B4GALNT1 Louise Daugherty commented on gene: B4GALNT1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 ATP13A2 Louise Daugherty commented on gene: ATP13A2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 ATL1 Louise Daugherty commented on gene: ATL1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 ARG1 Louise Daugherty commented on gene: ARG1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 AP5Z1 Louise Daugherty commented on gene: AP5Z1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 AP4S1 Louise Daugherty commented on gene: AP4S1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 AP4M1 Louise Daugherty commented on gene: AP4M1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 AP4E1 Louise Daugherty commented on gene: AP4E1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 AP4B1 Louise Daugherty commented on gene: AP4B1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 AMPD2 Louise Daugherty commented on gene: AMPD2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 ALS2 Louise Daugherty commented on gene: ALS2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 ALDH18A1 Louise Daugherty commented on gene: ALDH18A1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 AIMP1 Louise Daugherty commented on gene: AIMP1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 AFG3L2 Louise Daugherty commented on gene: AFG3L2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 ADAR Louise Daugherty commented on gene: ADAR: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.74 ABCD1 Louise Daugherty commented on gene: ABCD1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 FARS2 Nick Beauchamp reviewed gene: FARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 FARS2 Nick Beauchamp reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.53 ZFYVE26 Louise Daugherty commented on gene: ZFYVE26: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 WDR45B Louise Daugherty commented on gene: WDR45B: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 WASHC5 Louise Daugherty commented on gene: WASHC5: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 VPS37A Louise Daugherty commented on gene: VPS37A: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 VAMP1 Louise Daugherty commented on gene: VAMP1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 UCHL1 Louise Daugherty commented on gene: UCHL1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 TUBB4A Louise Daugherty commented on gene: TUBB4A: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 TFG Louise Daugherty commented on gene: TFG: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 TECPR2 Louise Daugherty commented on gene: TECPR2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 SPG7 Louise Daugherty commented on gene: SPG7: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 SPG21 Louise Daugherty commented on gene: SPG21: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 SPG11 Louise Daugherty commented on gene: SPG11: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 SPAST Louise Daugherty commented on gene: SPAST: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 SPART Louise Daugherty commented on gene: SPART: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 SLC33A1 Louise Daugherty commented on gene: SLC33A1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 SLC25A46 Louise Daugherty commented on gene: SLC25A46: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 SLC1A4 Louise Daugherty commented on gene: SLC1A4: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 SLC16A2 Louise Daugherty commented on gene: SLC16A2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 SERAC1 Louise Daugherty commented on gene: SERAC1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 SACS Louise Daugherty commented on gene: SACS: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 RTN2 Louise Daugherty commented on gene: RTN2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 REEP2 Louise Daugherty commented on gene: REEP2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 REEP1 Louise Daugherty commented on gene: REEP1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 PSEN1 Louise Daugherty commented on gene: PSEN1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 POLR3A Louise Daugherty commented on gene: POLR3A: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 PNPLA6 Louise Daugherty commented on gene: PNPLA6: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 PLP1 Louise Daugherty commented on gene: PLP1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 OPA3 Louise Daugherty commented on gene: OPA3: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 NT5C2 Louise Daugherty commented on gene: NT5C2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 NKX6-2 Louise Daugherty commented on gene: NKX6-2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 NIPA1 Louise Daugherty commented on gene: NIPA1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 MTPAP Louise Daugherty commented on gene: MTPAP: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 MARS2 Louise Daugherty commented on gene: MARS2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 MAG Louise Daugherty commented on gene: MAG: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 LYST Louise Daugherty commented on gene: LYST: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 L1CAM Louise Daugherty commented on gene: L1CAM: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 KIF5A Louise Daugherty commented on gene: KIF5A: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 KIF1C Louise Daugherty commented on gene: KIF1C: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 KIF1A Louise Daugherty commented on gene: KIF1A: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 KIDINS220 Louise Daugherty commented on gene: KIDINS220: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 KDM5C Louise Daugherty commented on gene: KDM5C: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 KCNA2 Louise Daugherty commented on gene: KCNA2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 IBA57 Louise Daugherty commented on gene: IBA57: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 HSPD1 Louise Daugherty commented on gene: HSPD1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 HACE1 Louise Daugherty commented on gene: HACE1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 GJC2 Louise Daugherty commented on gene: GJC2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 GCH1 Louise Daugherty commented on gene: GCH1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 GBA2 Louise Daugherty commented on gene: GBA2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 FARS2 Louise Daugherty commented on gene: FARS2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 FA2H Louise Daugherty commented on gene: FA2H: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 ERLIN2 Louise Daugherty commented on gene: ERLIN2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 ERLIN1 Louise Daugherty commented on gene: ERLIN1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 DSTYK Louise Daugherty commented on gene: DSTYK: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 DDHD2 Louise Daugherty commented on gene: DDHD2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 DDHD1 Louise Daugherty commented on gene: DDHD1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 DARS Louise Daugherty commented on gene: DARS: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 CYP7B1 Louise Daugherty commented on gene: CYP7B1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 CYP2U1 Louise Daugherty commented on gene: CYP2U1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 CYP27A1 Louise Daugherty commented on gene: CYP27A1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 CPT1C Louise Daugherty commented on gene: CPT1C: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 CDK16 Louise Daugherty commented on gene: CDK16: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 CAPN1 Louise Daugherty commented on gene: CAPN1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 C19orf12 Louise Daugherty commented on gene: C19orf12: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 C12orf65 Louise Daugherty commented on gene: C12orf65: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 BSCL2 Louise Daugherty commented on gene: BSCL2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 B4GALNT1 Louise Daugherty commented on gene: B4GALNT1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 ATP13A2 Louise Daugherty commented on gene: ATP13A2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 ATL1 Louise Daugherty commented on gene: ATL1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 ARG1 Louise Daugherty commented on gene: ARG1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 AP5Z1 Louise Daugherty commented on gene: AP5Z1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 AP4S1 Louise Daugherty commented on gene: AP4S1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 AP4M1 Louise Daugherty commented on gene: AP4M1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 AP4E1 Louise Daugherty commented on gene: AP4E1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 AP4B1 Louise Daugherty commented on gene: AP4B1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 AMPD2 Louise Daugherty commented on gene: AMPD2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 ALS2 Louise Daugherty commented on gene: ALS2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 ALDH18A1 Louise Daugherty commented on gene: ALDH18A1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 AIMP1 Louise Daugherty commented on gene: AIMP1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 AFG3L2 Louise Daugherty commented on gene: AFG3L2: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 ADAR Louise Daugherty commented on gene: ADAR: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.53 ABCD1 Louise Daugherty commented on gene: ABCD1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.52 FA2H Nick Beauchamp reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: None; Publications: 19068277, 20853438; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 FA2H Nick Beauchamp reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: None; Publications: 19068277, 20853438; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Ataxia and cerebellar anomalies - narrow panel v1.0 TMEM5 Louise Daugherty Tag new-gene-name tag was added to gene: TMEM5.
Ataxia and cerebellar anomalies - narrow panel v1.0 TMEM5 Louise Daugherty commented on gene: TMEM5
Likely inborn error of metabolism v1.54 TMEM5 Louise Daugherty Tag new-gene-name tag was added to gene: TMEM5.
Likely inborn error of metabolism v1.54 TMEM5 Louise Daugherty commented on gene: TMEM5
Fetal anomalies v0.245 MUT Louise Daugherty Tag new-gene-name tag was added to gene: MUT.
Fetal anomalies v0.245 MUT Louise Daugherty commented on gene: MUT
DDG2P v1.44 MUT Louise Daugherty Tag new-gene-name tag was added to gene: MUT.
DDG2P v1.44 MUT Louise Daugherty commented on gene: MUT
Likely inborn error of metabolism v1.54 MUT Louise Daugherty commented on gene: MUT
Likely inborn error of metabolism v1.54 MUT Louise Daugherty Tag new-gene-name tag was added to gene: MUT.
Adult onset neurodegenerative disorder v1.45 KIAA1161 Louise Daugherty commented on gene: KIAA1161: added new-gene-name tag, new approved HGNC gene symbol for KIAA1161 is MYORG
Adult onset neurodegenerative disorder v1.45 KIAA1161 Louise Daugherty Tag new-gene-name tag was added to gene: KIAA1161.
Fetal anomalies v0.245 HNRNPK Rebecca Foulger Publications for gene: HNRNPK were set to 29904177; 30998304
Fetal anomalies v0.244 HNRNPK Rebecca Foulger commented on gene: HNRNPK: Added HNRNPK to the Fetal anomalies panel as a Green gene based on the DDG2P Disease confidence rating of 'confirmed' for Au-Kline syndrome. There is sufficient evidence (>3 unrelated cases from PMIDs:26173930,26954065,28771707,29904177) supporting a link between HNRNPK and Au-Kline syndrome. Plus the phenotype includes structural anomalies and PMID:29904177 report a prenatal presentation.
Fetal anomalies v0.244 HNRNPK Rebecca Foulger commented on gene: HNRNPK: Au et al., 2018 (PMID:29904177) report prenatal presentation of Au-Kline syndrome: patient 9 presented prenatally with prune belly sequence, club feet, cystic kidneys associated with large cystic hygroma, pleural effusions and enlarged bladder. An additional 5 prenatal patients showed increased nuchal translucency and 5 patients had hydronephrosis. Congenital heart disease was reported for one patient prenatally. Agenesis of the corpus callosum was observed prenatally in one patient. Choroid plexus cysts, hyperechoic bowel, and ventriculomegaly have also been detected in ultrasound in single patients.
Likely inborn error of metabolism v1.54 HFE2 Louise Daugherty Tag new-gene-name tag was added to gene: HFE2.
Likely inborn error of metabolism v1.54 HFE2 Louise Daugherty commented on gene: HFE2
Fetal anomalies v0.244 HNRNPK Rebecca Foulger commented on gene: HNRNPK: Au-Kline syndrome is a multiple malformation syndrome associated with intellectual disability. Patients have facial dysmorphic features and frequently have skeletal and connective tissue anomalies, craniosynostosis, congenital heart malformations, and renal anomalies (PMID:29904177). Structural phenotypes reported in the literature include talipes and partial agenesis of corpus callosum. Au et al., 2018 (PMID:29904177) report prenatal presentation with 5 patients showing increased nuchal translucency and 5 patients had hydronephrosis.
Cerebral vascular malformations v1.36 GUCY1A3 Louise Daugherty commented on gene: GUCY1A3
Cerebral vascular malformations v1.36 GUCY1A3 Louise Daugherty Tag new-gene-name tag was added to gene: GUCY1A3.
Fetal anomalies v0.244 HNRNPK Rebecca Foulger reviewed gene: HNRNPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.13 GIF Louise Daugherty Tag new-gene-name tag was added to gene: GIF.
Likely inborn error of metabolism v1.54 GIF Louise Daugherty Tag new-gene-name tag was added to gene: GIF.
Likely inborn error of metabolism v1.54 GIF Louise Daugherty commented on gene: GIF
Fetal anomalies v0.243 HNRNPK Rebecca Foulger gene: HNRNPK was added
gene: HNRNPK was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HNRNPK were set to 29904177; 30998304
Phenotypes for gene: HNRNPK were set to Au-Kline Syndrome
Limb disorders v1.5 C5orf42 Louise Daugherty Tag new-gene-name tag was added to gene: C5orf42.
Limb disorders v1.5 C5orf42 Louise Daugherty commented on gene: C5orf42
Unexplained young onset end-stage renal disease v0.13 C5orf42 Louise Daugherty Tag new-gene-name tag was added to gene: C5orf42.
Structural eye disease v0.75 C5orf42 Louise Daugherty Tag new-gene-name tag was added to gene: C5orf42.
Structural eye disease v0.75 C5orf42 Louise Daugherty commented on gene: C5orf42
Structural eye disease v0.75 C2orf71 Louise Daugherty commented on gene: C2orf71
Structural eye disease v0.75 C2orf71 Louise Daugherty Tag new-gene-name tag was added to gene: C2orf71.
Laterality disorders and isomerism v0.21 C21orf59 Louise Daugherty commented on gene: C21orf59: Added new-gene-name tag, new approved HGNC gene symbol for C21orf59 is CFAP298
Laterality disorders and isomerism v0.21 C21orf59 Louise Daugherty Tag new-gene-name tag was added to gene: C21orf59.
Respiratory ciliopathies including non-CF bronchiectasis v0.142 C21orf59 Louise Daugherty Tag new-gene-name tag was added to gene: C21orf59.
Respiratory ciliopathies including non-CF bronchiectasis v0.142 C21orf59 Louise Daugherty commented on gene: C21orf59: Added new-gene-name tag, new approved HGNC gene symbol for C21orf59 is CFAP298
Likely inborn error of metabolism v1.54 ATP5O Louise Daugherty commented on gene: ATP5O
Likely inborn error of metabolism v1.54 ATP5O Louise Daugherty Tag new-gene-name tag was added to gene: ATP5O.
Likely inborn error of metabolism v1.54 ATP5J Louise Daugherty Tag new-gene-name tag was added to gene: ATP5J.
Likely inborn error of metabolism v1.54 ATP5J Louise Daugherty commented on gene: ATP5J
Likely inborn error of metabolism v1.54 ATP5I Louise Daugherty Tag new-gene-name tag was added to gene: ATP5I.
Likely inborn error of metabolism v1.54 ATP5I Louise Daugherty commented on gene: ATP5I
Likely inborn error of metabolism v1.54 ATP5G3 Louise Daugherty Tag new-gene-name tag was added to gene: ATP5G3.
Likely inborn error of metabolism v1.54 ATP5G3 Louise Daugherty commented on gene: ATP5G3
Likely inborn error of metabolism v1.54 ATP5G2 Louise Daugherty Tag new-gene-name tag was added to gene: ATP5G2.
Likely inborn error of metabolism v1.54 ATP5G2 Louise Daugherty commented on gene: ATP5G2
Likely inborn error of metabolism v1.54 ATP5G1 Louise Daugherty Tag new-gene-name tag was added to gene: ATP5G1.
Likely inborn error of metabolism v1.54 ATP5G1 Louise Daugherty commented on gene: ATP5G1
Likely inborn error of metabolism v1.54 ATP5E Louise Daugherty commented on gene: ATP5E
Likely inborn error of metabolism v1.54 ATP5E Louise Daugherty Tag new-gene-name tag was added to gene: ATP5E.
Likely inborn error of metabolism v1.54 ATP5C1 Louise Daugherty commented on gene: ATP5C1
Likely inborn error of metabolism v1.54 ATP5C1 Louise Daugherty Tag new-gene-name tag was added to gene: ATP5C1.
Likely inborn error of metabolism v1.54 ATP5B Louise Daugherty commented on gene: ATP5B
Likely inborn error of metabolism v1.54 ATP5B Louise Daugherty Tag new-gene-name tag was added to gene: ATP5B.
Early onset or syndromic epilepsy v1.35 ATP5A1 Louise Daugherty Tag new-gene-name tag was added to gene: ATP5A1.
Early onset or syndromic epilepsy v1.35 ATP5A1 Louise Daugherty commented on gene: ATP5A1
Likely inborn error of metabolism v1.54 ATP5A1 Louise Daugherty commented on gene: ATP5A1
Likely inborn error of metabolism v1.54 ATP5A1 Louise Daugherty Tag new-gene-name tag was added to gene: ATP5A1.
DDG2P v1.44 SMAD6 Rebecca Foulger Classified gene: SMAD6 as Red List (low evidence)
DDG2P v1.44 SMAD6 Rebecca Foulger Added comment: Comment on list classification: Updated rating of SMAD6 from Amber to Red following a rating change in DD-G2P (DD-G2P panel downloaded May 9th 2019). The original DDG2P Disease confidence of 'probable' was replaced with a new Disease confidence of 'possible' for Non-syndromic craniosynostosis. Mode of inheritance remains as: monoallelic. Mode of pathogenicity/mutation consequence remains as: loss of function.
DDG2P v1.44 SMAD6 Rebecca Foulger Gene: smad6 has been classified as Red List (Low Evidence).
DDG2P v1.43 CNOT1 Rebecca Foulger reviewed gene: CNOT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.43 HNRNPK Rebecca Foulger reviewed gene: HNRNPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.42 CNOT1 Rebecca Foulger gene: CNOT1 was added
gene: CNOT1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CNOT1 were set to 31006510; 31006513
Phenotypes for gene: CNOT1 were set to pancreatic agenesis and holoprosencephaly syndrome
Mode of pathogenicity for gene: CNOT1 was set to Other - please provide details in the comments
DDG2P v1.42 HNRNPK Rebecca Foulger gene: HNRNPK was added
gene: HNRNPK was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HNRNPK were set to 29904177; 30998304
Phenotypes for gene: HNRNPK were set to Au-Kline Syndrome
Childhood onset hereditary spastic paraplegia v1.73 ERLIN2 Nick Beauchamp reviewed gene: ERLIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21330303, 21796390, 29691679, 29528531; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 ERLIN2 Nick Beauchamp Deleted their review
Adult onset hereditary spastic paraplegia v0.52 ERLIN2 Nick Beauchamp reviewed gene: ERLIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21330303, 21796390, 29691679, 29528531; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 ERLIN2 Nick Beauchamp reviewed gene: ERLIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21330303, 21796390, 29691679; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.79 WARS Alexander Rossor reviewed gene: WARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.79 SLC5A7 Alexander Rossor commented on gene: SLC5A7: Additional families now described with very tight phenotype
Hereditary neuropathy v1.79 NEFH Alexander Rossor reviewed gene: NEFH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.79 MCM3AP Alexander Rossor reviewed gene: MCM3AP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.79 FXN Alexander Rossor edited their review of gene: FXN: Added comment: Causes a neuropathy with ataxia; Changed rating: GREEN
Adult onset hereditary spastic paraplegia v0.52 ERLIN1 Nick Beauchamp reviewed gene: ERLIN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.79 DNAJB2 Alexander Rossor commented on gene: DNAJB2: Now reported in multiple series form different countries
Childhood onset hereditary spastic paraplegia v1.73 ERLIN1 Nick Beauchamp reviewed gene: ERLIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.79 DCTN1 Alexander Rossor reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.79 DCTN1 Alexander Rossor Deleted their review
Hereditary neuropathy v1.79 DCTN1 Alexander Rossor Deleted their comment
Hereditary neuropathy v1.79 CRYAB Alexander Rossor commented on gene: CRYAB
Hereditary neuropathy v1.79 CRYAB Alexander Rossor Deleted their review
Hereditary neuropathy v1.79 VCP Alexander Rossor commented on gene: VCP
Hereditary neuropathy v1.79 VCP Alexander Rossor Deleted their review
Adult onset hereditary spastic paraplegia v0.52 DSTYK Nick Beauchamp reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: None; Publications: 28157540; Phenotypes: ; Mode of inheritance: None
Childhood onset hereditary spastic paraplegia v1.73 DSTYK Nick Beauchamp reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: None; Publications: 28157540; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.52 DDHD2 Nick Beauchamp reviewed gene: DDHD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176823, 23486545, 25417924; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 DDHD2 Nick Beauchamp reviewed gene: DDHD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176823, 23486545, 25417924; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.52 DDHD1 Nick Beauchamp reviewed gene: DDHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176821, 24989667, 26944165; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 DDHD1 Nick Beauchamp reviewed gene: DDHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176821, 24989667, 26944165; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 DARS Nick Beauchamp reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.52 DARS Nick Beauchamp reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 23643384, 25527264; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.52 CYP7B1 Nick Beauchamp reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18252231, 19187859, 29126212; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 CYP7B1 Nick Beauchamp reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18252231, 19187859, 29126212; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.52 CYP2U1 Nick Beauchamp reviewed gene: CYP2U1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23176821, 24337409; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 CYP2U1 Nick Beauchamp reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176821, 24337409; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.52 CYP27A1 Nick Beauchamp reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 CYP27A1 Nick Beauchamp reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.52 CAPN1 Nick Beauchamp reviewed gene: CAPN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27153400, 29678961, 28566166; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.73 CAPN1 Nick Beauchamp reviewed gene: CAPN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27153400, 29678961, 28566166; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.52 C19orf12 Nick Beauchamp reviewed gene: C19orf12: Rating: AMBER; Mode of pathogenicity: None; Publications: 23857908, 26539891; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 C19orf12 Nick Beauchamp reviewed gene: C19orf12: Rating: AMBER; Mode of pathogenicity: None; Publications: 23857908, 26539891; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.92 CBS Alison Callaway reviewed gene: CBS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.52 C12orf65 Nick Beauchamp reviewed gene: C12orf65: Rating: AMBER; Mode of pathogenicity: None; Publications: 23188110, 24424123; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.73 C12orf65 Nick Beauchamp reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: 23188110, 24424123; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Anophthalmia or microphthalmia v1.17 KMT2D Julia Baptista gene: KMT2D was added
gene: KMT2D was added to Anophthalmia or microphthalmia. Sources: Literature
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2D were set to PMID: 26049589; 27530281
Phenotypes for gene: KMT2D were set to microphthalmia
Penetrance for gene: KMT2D were set to Complete
Review for gene: KMT2D was set to GREEN
gene: KMT2D was marked as current diagnostic
Added comment: One Irish male reported with a de novo KMT2A variant and bilateral extreme microphthalmia (PMID: 26049589). An additional proband was reported with bilateral microphthalmia (PMID: 27530281).
Sources: Literature
Skeletal dysplasia v1.159 RAB33B Eleanor Williams commented on gene: RAB33B: Associated with Smith-McCort dysplasia 2 (615222) in OMIM.

PMID: 22652534 - Alshammari et al. (2012) - 1 family - a consanguineous Saudi family segregating Smith-McCort syndrome. Identified a homozygous missense mutation in the RAB33B gene (K46Q). Immunoblot analysis showed severe deficiency of RAB33B in patient cells compared with control cells, and patient fibroblasts also displayed a marked reduction in the immunofluorescence signal corresponding to RAB33B but comparable signal intensity to the Golgi marker giantin.

PMID: 16470731/23042644 - Neumann et al. (2006)/Dupuis et al. (2013) - 1 case. 22-year-old Turkish man with Smith-McCort syndrome-2. Identified a homozygous missense mutation in the RAB33B gene (N148K;). By Western blot analysis and immunofluorescence studies, Dupuis et al. (2013) found marked reduction of the RAB33B protein.

PMID: 28127940 - Salian et al. (2017) - 3 families. 3 SMC patients with four novel pathogenic variants in RAB33B, including homozygosity for c.211C>T (p.R71*), homozygosity for c.365T>C (p.F122S), and compound heterozygosity for c.48delCGGGGCAG (p.G17Vfs*58) and c.490C>T (p.Q164*). The mutations segregated with the disorder in each family.

5 cases in total.
Skeletal dysplasia v1.159 P4HB Eleanor Williams commented on gene: P4HB: Associated with Cole-Carpenter syndrome 1 (112240) in OMIM.

PMID: 25683117 - Rauch et al. (2015) - 2 cases. 2 unrelated male patients with Cole-Carpenter syndrome-1, who exhibited multiple fractures of the long bones as well as craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features/ Identified heterozygosity for the same missense mutation in the P4HB gene ( c.1178A-G transition, Y393C) in both patients. In one the mutation occured de novo, in the other the unaffected father was mosaic for the variant.

PMID: 29384951 - Ouyang and Yang 2017 - 1 case. A 14-month-old Chinese girl presented with prominent ocular proptosis, frontal bossing, craniosynostosis, plump anterior fontanel, growth retardation, osteopenia, and distinctive facial features. Her clinical manifestation is similar to the 2 cases previously described with Cole–Carpenter syndrome-1. Whole-exome sequencing revealed a novel deletion variation in exons 5 to 8 of the P4HB gene, which was found to be heterozygous.

PMID: 30063094 - Porntaveetus et al 2018 - 1 case. First Asian CCS patient possessing the recurrent mutation in P4HB (c.1178A>G ).
Skeletal dysplasia v1.159 MMP13 Eleanor Williams commented on gene: MMP13: PMID: 19615667 - Lausch et al 2009 - found that recessive MAD is caused by homozygous loss of function of either MMP9 or MMP13, whereas dominant MAD is associated with missense mutations in the prodomain of MMP13 that determine autoactivation of MMP13
Skeletal dysplasia v1.159 MMP9 Eleanor Williams commented on gene: MMP9: Associated with Metaphyseal anadysplasia 2 (613073) in OMIM

PMID: 19615667 - Lausch et al 2009 - 1 family. In a recessive kindred, family E, MMP13 was normal, but a c.21T>A transversion in exon 1 altered the start codon of MMP9, substituting methionine with lysine. The variant segregated with the disease in the family.

PMID: 28342220 - Sharony et al 2017 - 1 family. Two affected sib fetuses with early sonographic evidence of long bone shortening and postnatally no metaphyseal changes. Whole-exome sequencing revealed homozygous mutation in MMP9 in both fetuses. NM_004994: c.[559C>T], p.(L187F).

PMID: 24781753 - Li et al 2015 - 0 families. 2 brothers with short stature and mixed epiphyseal and metaphyseal dysplasia. Identified a homozygous C>T transition mutation in exon 2 of MMP13 (c.325C>T, p.(R109*). So not in MMP9.

Only 2 cases reported, 3rd had variant in MMP13 not MMP9.
Thoracic aortic aneurysm or dissection v1.92 TGFB3 Alison Callaway reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Skeletal dysplasia v1.159 FZD2 Eleanor Williams commented on gene: FZD2: Associated with Omodysplasia 2 (164745) in OMIM.

PMID: 25759469 - Saal et al 2015 - 1 family. proband with omodysplasia, her unaffected parents and her affected daughter. Identified a de novo mutation (c.1644G>A, p.Trp548*) in FZD2 in the proband and her daughter that was not found in unaffected family members. Show reduced ability of this mutant form of FZD2 to interact with its downstream target DISHEVELLED. Furthermore, expressing the mutant form of FZD2 in vitro is not able to facilitate the cellular response to canonical Wnt signaling like wild-type FZD2.

PMID: 29230162 - Türkmen et al 2017 - 1 patient. A heterozygous de novo mutation (G434V) in the frizzled class receptor 2 (FZD2) gene in a patient with distinct facial features including hypertelorism, bilateral cleft lip/palate, short nose with a broad nasal bridge, microretrognathia, and bilateral shortness of the upper limbs, first metacarpal bones, and middle phalanges of the 5th digits.

PMID: 29383830 - invalid pubmed id

PMID: 29383834 - Nagasaki et al 2018 - 1 patient. 16-year-old boy with OMOD2 or Robinow syndrome-like phenotype. Molecular analysis identified a de novo, heterozygous, nonsense mutation (c.1640C>A, p.S547*) in FZD2.

PMID: 30455931 - Warren et al 2018 - 2 patients. Presented are two patients with autosomal dominant omodysplasia and mutations in the FZD2 gene. The mutations identified have been recently reported, suggesting the possibility of recurrent mutations. The phenotypes of these patients overlap with what has been previously reported, though intellectual disability as seen in our patient is not typical.
Skeletal dysplasia v1.159 MMP13 Eleanor Williams Added comment: Comment on mode of inheritance: Updated mode of inheritance to be in agreement with Tracy Lester's recommendation and OMIM
Skeletal dysplasia v1.159 MMP13 Eleanor Williams Mode of inheritance for gene: MMP13 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection v1.92 SMAD4 Alison Callaway reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 24424121, 25931195; Phenotypes: ; Mode of inheritance: None
Skeletal dysplasia v1.158 FGF23 Eleanor Williams Added comment: Comment on mode of inheritance: Updated mode of inheritance so in agreement with Tracy Lester's recommendation and OMIM
Skeletal dysplasia v1.158 FGF23 Eleanor Williams Mode of inheritance for gene: FGF23 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.157 COL9A3 Eleanor Williams Added comment: Comment on mode of inheritance: Updated in-line with reviewer's recommendations and OMIM
Skeletal dysplasia v1.157 COL9A3 Eleanor Williams Mode of inheritance for gene: COL9A3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v1.156 CDKN1C Eleanor Williams Added comment: Comment on mode of inheritance: Updating mode of inheritance to reflect expert reviewer's recommendation
Skeletal dysplasia v1.156 CDKN1C Eleanor Williams Mode of inheritance for gene: CDKN1C was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Intellectual disability v2.806 PHACTR1 Eleanor Williams Phenotypes for gene: PHACTR1 were changed from Global developmental delay; Intellectual disability; Seizures:Epileptic encephalopathy, early infantile, 70 618298; PHACTR1-associated neurodevelopment disorder to Global developmental delay; Intellectual disability; Seizures:Epileptic encephalopathy, early infantile, 70 618298; PHACTR1-associated neurodevelopment disorder
Intellectual disability v2.805 PHACTR1 Eleanor Williams Phenotypes for gene: PHACTR1 were changed from to Global developmental delay; Intellectual disability; Seizures:Epileptic encephalopathy, early infantile, 70 618298; PHACTR1-associated neurodevelopment disorder
Thoracic aortic aneurysm or dissection v1.92 SLC2A10 Alison Callaway reviewed gene: SLC2A10: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Intellectual disability v2.804 PHACTR1 Eleanor Williams Publications for gene: PHACTR1 were set to
Thoracic aortic aneurysm or dissection v1.92 FBN2 Alison Callaway reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Intellectual disability v2.803 PHACTR1 Eleanor Williams Added comment: Comment on mode of pathogenicity: Proposed dominant negative or incomplete penetrance mode of action (PMIDs: 23033978, 28135719)
Intellectual disability v2.803 PHACTR1 Eleanor Williams Mode of pathogenicity for gene: PHACTR1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Intellectual disability v2.802 PHACTR1 Eleanor Williams Mode of inheritance for gene: PHACTR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection v1.92 COL5A2 Alison Callaway reviewed gene: COL5A2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Intellectual disability v2.801 PHACTR1 Eleanor Williams Classified gene: PHACTR1 as Green List (high evidence)
Intellectual disability v2.801 PHACTR1 Eleanor Williams Added comment: Comment on list classification: 3 cases plus functional evidence (from PMIDs: 23033978, 28135719), supporting a dominant negative mode of action or incomplete penetrance.
Intellectual disability v2.801 PHACTR1 Eleanor Williams Gene: phactr1 has been classified as Green List (High Evidence).
Thoracic aortic aneurysm or dissection v1.92 COL5A1 Alison Callaway reviewed gene: COL5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.92 COL1A2 Alison Callaway reviewed gene: COL1A2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.92 COL1A1 Alison Callaway reviewed gene: COL1A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.92 TGFB2 Alison Callaway reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.92 TGFBR2 Alison Callaway reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.92 TGFBR1 Alison Callaway reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.92 SMAD3 Alison Callaway reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.92 MYH11 Alison Callaway reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.92 ACTA2 Alison Callaway reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.92 ACTA2 Alison Callaway Deleted their review
Thoracic aortic aneurysm or dissection v1.92 FBN1 Alison Callaway reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection v1.92 ACTA2 Alison Callaway reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Thoracic aortic aneurysm or dissection v1.92 COL3A1 Alison Callaway reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Unexplained young onset end-stage renal disease v0.13 GLA Daniel Gale reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28006774, 15861341, 15100373; Phenotypes: renal insufficiency, renal failure, Fabry disease; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Differences in sex development v1.34 TSPYL1 Ivone Leong Classified gene: TSPYL1 as Amber List (moderate evidence)
Differences in sex development v1.34 TSPYL1 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. TSPYL1 is associated with a phenotype in OMIM but not Gene2Phenotype. As there are only 2 unrelated cases with different variants in the gene, it was decided that there is currently not enough evidence to promote to green status. There was agreement to promote this gene to amber by experts in GMS Endocrinology Specialist Test Group. Until further evidence is available, TSPYL1 will be promoted to amber.
Differences in sex development v1.34 TSPYL1 Ivone Leong Gene: tspyl1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v1.155 XYLT2 Eleanor Williams commented on gene: XYLT2: PMID: 26027496 - Munns et al 2015 - 3 patients from 2 unrelated families with bone fragility, hearing impairment, cardiac septal defects, and learning difficulties (spondyloocular syndrome). Identified homozygosity for a 1-bp duplication and a 1-bp deletion, respectively. The mutations, which segregated with disease in each family, were not found in public variant databases.

PMID: 26987875- Taylan et al 2016 - report on 4 patients, 2 unrelated patients and 2 siblings, with spondyloocular syndrome and novel mutations in XYLT2.
Skeletal dysplasia v1.155 SERPINH1 Eleanor Williams commented on gene: SERPINH1: PMID: 20188343 - Christiansen et al 2010 - one individual with OI - identified an autosomal-recessive mutation in SERPINH1 (c.233T>C, p.Leu78Pro).

PMID: 25510505 - Duran et al 2015 - two affected siblings with a moderately severe form of OI. Homozygosity for a single nucleotide variant in SERPINH1 (c.710T>C, p.237Met>Thr) was identified. The parents were carriers of the sequence change.

Also Dachshund (dog) model of OI:
PMID: 19629171 - Drögemüller et al 2009 - investigated Dachshunds with an autosomal recessive form of OI. A missense mutation (c.977C>T, p.L326P) located in an evolutionary conserved domain was perfectly associated with the OI phenotype. 11 affected dogs were homozygous C/C and all 13 known carriers were heterozygous C/T. Affected dogs iikely bred from a founder individual.
Skeletal dysplasia v1.155 HDAC4 Eleanor Williams commented on gene: HDAC4: Not associated with a phenotype in OMIM.
See review of this gene on Limb disorders panel - https://panelapp.genomicsengland.co.uk/panels/384/gene/HDAC4/
Conclusion was haploinsufficiency of HDAC4 appears to be associated with Brachydactyly type E but not always intellectual disability.
Skeletal dysplasia v1.155 PGM3 Eleanor Williams commented on gene: PGM3: PMID: 24931394 Stray-Pedersen et al 2014 - identified three unrelated children with recurrent infections, congenital leukopenia including neutropenia, B and T cell lymphopenia, and progression to bone marrow failure. Whole-exome sequencing demonstrated deleterious mutations in PGM3 in all three subjects, Two of the three children had skeletal anomalies resembling Desbuquois dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability. However, these additional features were absent in the third child, showing the clinical variability of the disease.

PMID: 28543917 - Pacheco-Cuéllar et al 2017 - identified a novel homozygous mutation (c.1135T>C; p.Phe379Leu) in PGM3 in two siblings with bone marrow failure, severe combined immunodeficiency, renal and intestinal malformations, and a skeletal dysplasia resembling Desbuquois dysplasia
Skeletal dysplasia v1.155 WDR19 Eleanor Williams commented on gene: WDR19: PMID: 22019273 - Bredrup et al. (2011) - sister and brother with cranioectodermal dysplasia (Sensenbrenner syndrome) identified compound heterozygosity for variants in the WDR19 gene that cosegregated with disease (L710S, and R1103X, 608151.0002). Also found a a Dutch patient with Jeune syndrome and homozygosity for a missense mutation in WDR19 (L7P).

PMID: 24504730 - Fehrenbach et al 2014 - 8 year old girl with hypotonia, facial dysmorphism and retardation which were noted shortly after birth. Other features included short stature, mild skeletal anomalies, strabism, deafness, subdural hygroma, hepatosplenomegaly and end-stage renal failure. Identified novel homozygous WDR19 mutation c.1483G > C (p.Gly495Arg) .
Skeletal dysplasia v1.155 RBPJ Eleanor Williams commented on gene: RBPJ: PMID: 22883147 - Hassed et al. [2012] identified mutations in RBPJ through exome sequencing in two independent kindreds with autosomal dominant AOS.

PMID: 28160419 - Hassad et al 2017 - don't think they report any new families.
Skeletal dysplasia v1.155 NIN Eleanor Williams commented on gene: NIN: PMID: 22933543 - Dauber et al. (2012) -2 sisters with severe short stature, microcephaly, and developmental delay (Seckel syndrome-7) were identified to have compound heterozygosity for missense mutations in the NIN gene (Q1222R; N1709S)

PMID: 23665482 -Grosch et al (2013) - in a consanguineous family with a phenotype resembling Spondyloepimetaphyseal dysplasia with joint laxity-leptodactylic type (SEMDJL2) they identified homozygous missense mutations in the two nearby genes NIN and POLE2 which segregate with the disease in the family and were not present in 500 healthy control individuals and in the 1094 control individuals contained within the 1000-genomes database. They present evidence that mutant Ninein is most likely causative for the SEMDJL2-like phenotype.
Skeletal dysplasia v1.155 IFT81 Eleanor Williams commented on gene: IFT81: Additional publication - PMID: 30080953 Pettersson et al 2018 - a homozygous tandem duplication of exon 9 and 10 in IFT81 in a boy with Jeune syndrome, or short-rib thoracic dysplasia (SRTD). Western blot analysis did not detect any wild-type IFT81 protein in fibroblasts from the patient with the IFT81 duplication, but only a shorter isoform of IFT81 that was also present in the normal control samples.
Skeletal dysplasia v1.155 IFT52 Eleanor Williams Publications for gene: IFT52 were set to 2688018; 27466190
Skeletal dysplasia v1.154 ICK Eleanor Williams commented on gene: ICK: PMID: 19185282 - Lahiry et al. (2009) - in 6 affected infants with Endocrine-Cerebroosteodysplasia of Old Order Amish pedigree a homozygous mutation was identified in the ICK gene. The phenotype was severe, involved several organ systems, and resulted in fetal or neonatal death.

PMID: 27069622 Oud et al. (2016) - a Turkish fetus with Endocrine-Cerebroosteodysplasia was found to be homozygous for a missense mutation in the ICK gene that segregated fully with disease in the family and was not found in Turkish controls or public variant databases

PMID: 27466187 Paige Taylor et al (2016) - identified homozygosity for a missense mutation, p.E80K, in Intestinal Cell Kinase, ICK, in one short rib polydactyly syndromes family.
Skeletal dysplasia v1.154 GPX4 Eleanor Williams commented on gene: GPX4: PMID: 24706940 - Smith et al 2014 - 2 cases. Case 1 - child with Sedaghatian-type spondylometaphyseal dysplasia (SSMD) heterozygous for two rare variants in GPX4;(c.587+5G>A) was inherited from the mother, and the second (c.588-8_588-4del) was de novo; both were predicted to impact splicing of GPX4. Case 2 - DNA from the child with SSMD was not available, the two unaffected parents were found by Sanger sequencing to each carry the same heterozygous stop mutation in exon 3 of GPX4, c.381C>A, p.Tyr127*.

So 3 variants but from 2 cases. PubMed search did not find any other cases.
Skeletal dysplasia v1.154 IDH2 Eleanor Williams commented on gene: IDH2: PMID: 20847235 - Kranendijk et al. (2010) - 15 of 17 cases of D-2-hydroxyglutaric aciduria without mutation in the D2HGDH gene a heterozygous mutation was found in the IDH2 gene. 14 had an arg140-to-gln mutation (R140Q) and 1 had an arg140-to-gly mutation (R140G).

PMID: 24049096 - Nota et al. (2013) reported a patient with D-2-hydroxyglutaric aciduria-2 in whom mosaicism for the R140Q mutation in IDH2 had occurred de novo.
Skeletal dysplasia v1.154 RAD21 Eleanor Williams Publications for gene: RAD21 were set to
Skeletal dysplasia v1.153 RAD21 Eleanor Williams commented on gene: RAD21: OMIM: - 2 cases reported in OMIM (PMID: 22633399, Deardorff et al 2012) plus 3 patients with overlapping deletions covering RAD21 (aswell as other genes).

Other publications with patients with Cornelia de Lange and RAD21 variants
PMID: 30716475 - Dorval et al 2019 - 1 patient - mild phenotype
PMID: 24378232 - Minor et al., 2014 - 2 patients. In one case the mother had the same frameshift mutation showing incomplete penetrance.
PMID: 27882533 - Boyle et al., 2017 - patient with a single bp deletion (c.704delG) in RAD21 predicted to result in a premature stop codon [p.(Ser235Ilefs*19)]. The deletion was found in the mother and the two aunts of the index patient, and none of them had been suspected of having CdLS or a cohesinopathy prior to this study - suggests incomplete penetrance
PMID: 27620904 - Martinez et al., 2017 - 1 patient
Skeletal dysplasia v1.153 PAM16 Eleanor Williams commented on gene: PAM16: PMID: 27354339 - Moosa et al 2016 - 1 patient with a spondylometaphyseal dysplasia, most closely resembling odontochondrodysplasi. A homozygous c.221A>C (p.Q74P) mutation in PAM16, which was not present in the ExAC database was identified.

PMID: 24786642 - Mehawej et al 2014 - Two unrelated consanguineous Lebanese families with four affected cases presenting a novel type of early lethal spondylodysplastic dysplasia. Identified c.226A>G transition in MAGMAS (PAM16) to segregated with the disease in both families. The mutation was homozygous in the patients, heterozygous in the parents and in the unaffected sibs in both families. Likely founder mutation.
Show that MAGMAS is specifically expressed in trabecular bone and cartilage at early developmental stages and that the mutation leads to an instability of the protein.
Retinal disorders v1.139 FAM57B Louise Daugherty Deleted their comment
Retinal disorders v1.139 FAM57B Louise Daugherty commented on gene: FAM57B: Added new-gene-name tag, new approved HGNC gene symbol for FAM57B is TLCD3B
Retinal disorders v1.139 FAM57B Louise Daugherty commented on gene: FAM57B: Added new-gene-name tag, new approved HGNC gene symbol for FAM57B is TLCD3B
Retinal disorders v1.139 FAM57B Louise Daugherty Tag new-gene-name tag was added to gene: FAM57B.
Mitochondrial disorders v1.291 APOPT1 Louise Daugherty Tag new-gene-name tag was added to gene: APOPT1.
Fetal anomalies v0.242 APOPT1 Louise Daugherty Tag new-gene-name tag was added to gene: APOPT1.
Monogenic hearing loss v1.107 APOPT1 Louise Daugherty Tag new-gene-name tag was added to gene: APOPT1.
DDG2P v1.41 APOPT1 Louise Daugherty Tag new-gene-name tag was added to gene: APOPT1.
Undiagnosed metabolic disorders v1.105 APOPT1 Louise Daugherty Tag new-gene-name tag was added to gene: APOPT1.
Intellectual disability v2.800 APOPT1 Louise Daugherty Tag new-gene-name tag was added to gene: APOPT1.
Likely inborn error of metabolism v1.54 APOPT1 Louise Daugherty Tag new-gene-name tag was added to gene: APOPT1.
Possible mitochondrial disorder - nuclear genes v0.132 APOPT1 Louise Daugherty Tag new-gene-name tag was added to gene: APOPT1.
Mitochondrial disorder with complex IV deficiency v0.30 APOPT1 Louise Daugherty Tag new-gene-name tag was added to gene: APOPT1.
Mitochondrial disorder with complex IV deficiency v0.30 APOPT1 Louise Daugherty commented on gene: APOPT1
Possible mitochondrial disorder - nuclear genes v0.132 APOPT1 Louise Daugherty commented on gene: APOPT1
Likely inborn error of metabolism v1.54 APOPT1 Louise Daugherty commented on gene: APOPT1
Intellectual disability v2.800 APOPT1 Louise Daugherty commented on gene: APOPT1: Added new-gene-name tag, new approved HGNC gene symbol for APOPT1 is COA8
Undiagnosed metabolic disorders v1.105 APOPT1 Louise Daugherty commented on gene: APOPT1
DDG2P v1.41 APOPT1 Louise Daugherty commented on gene: APOPT1
Monogenic hearing loss v1.107 APOPT1 Louise Daugherty commented on gene: APOPT1
Fetal anomalies v0.242 APOPT1 Louise Daugherty commented on gene: APOPT1
Mitochondrial disorders v1.291 APOPT1 Louise Daugherty commented on gene: APOPT1
Hereditary neuropathy v1.79 SEPT9 Louise Daugherty Tag new-gene-name tag was added to gene: SEPT9.
Paroxysmal central nervous system disorders v0.18 SEPT9 Louise Daugherty Tag new-gene-name tag was added to gene: SEPT9.
Pain syndromes v1.4 SEPT9 Louise Daugherty Tag new-gene-name tag was added to gene: SEPT9.
Clefting v1.34 SEPT9 Louise Daugherty Tag new-gene-name tag was added to gene: SEPT9.
Clefting v1.34 SEPT9 Louise Daugherty commented on gene: SEPT9
Pain syndromes v1.4 SEPT9 Louise Daugherty commented on gene: SEPT9: Added new-gene-name tag, new approved HGNC gene symbol for SEPT9 is SEPTIN9
Paroxysmal central nervous system disorders v0.18 SEPT9 Louise Daugherty commented on gene: SEPT9
Hereditary neuropathy v1.79 SEPT9 Louise Daugherty commented on gene: SEPT9: Added new-gene-name tag, new approved HGNC gene symbol for SEPT9 is SEPTIN9
DDG2P v1.41 FUK Louise Daugherty Tag new-gene-name tag was added to gene: FUK.
DDG2P v1.41 FUK Louise Daugherty commented on gene: FUK
Skeletal dysplasia v1.153 HOXD11 Eleanor Williams Publications for gene HOXD11 were changed from to Fleischman 2013 Blood 122:4837 http://www.bloodjournal.org/content/122/21/4837 (not in PubMed)
Skeletal dysplasia v1.153 FIG4 Eleanor Williams Added phenotypes Yunis-Varon syndrome 216340 for gene: FIG4
Skeletal dysplasia v1.153 EIF2AK3 Eleanor Williams Added phenotypes Wolcott-Rallison syndrome 226980 for gene: EIF2AK3
Skeletal dysplasia v1.153 WRN Eleanor Williams Added phenotypes Werner syndrome -277700 for gene: WRN
Skeletal dysplasia v1.153 ADAMTS17 Eleanor Williams Added phenotypes Weill-Marchesani syndrome type 4 for gene: ADAMTS17
Skeletal dysplasia v1.153 ADAMTS10 Eleanor Williams Added phenotypes Weill-Marchesani syndrome type 1 for gene: ADAMTS10
Skeletal dysplasia v1.153 LTBP2 Eleanor Williams Added phenotypes Weill-Marchesani for gene: LTBP2
Publications for gene LTBP2 were changed from to 22539340
Skeletal dysplasia v1.153 EZH2 Eleanor Williams Added phenotypes Weaver syndrome for gene: EZH2
Skeletal dysplasia v1.153 CYP27B1 Eleanor Williams Added phenotypes Vitamin D-dependent rickets, type I 264700 for gene: CYP27B1
Skeletal dysplasia v1.153 PUF60 Eleanor Williams Added phenotypes Verheij syndrome, 615583; VRJS for gene: PUF60
Publications for gene PUF60 were changed from 28327570; 27804958; 24140112 to 27804958; 28327570; 24140112
Skeletal dysplasia v1.153 SCARF2 Eleanor Williams Added phenotypes Van den Ende-Gupta syndrome 600920 for gene: SCARF2
Skeletal dysplasia v1.153 TP63 Eleanor Williams Added phenotypes Rapp-Hodgkin syndrome 129400; Orofacial cleft 8 129400; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292; Hay-Wells syndrome 106260; ULT syndrome 103285; Split-hand/foot malformation 4 605289; Limb-mammary syndrome 603543 for gene: TP63
Skeletal dysplasia v1.153 TBX3 Eleanor Williams Added phenotypes Ulnar-mammary syndrome 181450 for gene: TBX3
Publications for gene TBX3 were changed from to 28961683; 30654152; 28145909
Skeletal dysplasia v1.153 GALNT3 Eleanor Williams Added phenotypes Tumoral calcinosis, hyperphosphatemic, familial I 211900 for gene: GALNT3
Skeletal dysplasia v1.153 TRPS1 Eleanor Williams Added phenotypes Trichorhinophalangeal syndrome, type III 190351; Trichorhinophalangeal syndrome, type I 190350 for gene: TRPS1
Skeletal dysplasia v1.153 POLR1C Eleanor Williams Added phenotypes Treacher Collins syndrome 3 248390 for gene: POLR1C
Skeletal dysplasia v1.153 POLR1D Eleanor Williams Added phenotypes Treacher Collins syndrome 2 613717 for gene: POLR1D
Skeletal dysplasia v1.153 TCOF1 Eleanor Williams Added phenotypes Treacher Collins syndrome 1 154500 for gene: TCOF1
Skeletal dysplasia v1.153 TALDO1 Eleanor Williams Added phenotypes Transaldolase deficiency 606003 for gene: TALDO1
Publications for gene TALDO1 were changed from 25388407; 26238251 to 26238251; 25388407
Skeletal dysplasia v1.153 SALL1 Eleanor Williams Added phenotypes Townes Brocks syndrome (Renal-Ear-Anal-Radial syndrome) 107480 for gene: SALL1
Skeletal dysplasia v1.153 RBM8A Eleanor Williams Added phenotypes Thrombocytopenia-absent radius syndrome 274000 for gene: RBM8A
Skeletal dysplasia v1.153 THPO Eleanor Williams Added phenotypes Thrombocythemia 1 187950 (rare presentation with congenital limb defects) for gene: THPO
Publications for gene THPO were changed from 22453305; 19553636 to 19553636; 22453305
Skeletal dysplasia v1.153 WNT3 Eleanor Williams Added phenotypes Tetra-amelia syndrome 273395 for gene: WNT3
Publications for gene WNT3 were changed from to 14872406
Skeletal dysplasia v1.153 CHSY1 Eleanor Williams Added phenotypes Temtamy preaxial brachydactyly syndrome 605282 for gene: CHSY1
Skeletal dysplasia v1.153 DNMT3A Eleanor Williams Added phenotypes Tatton-Brown-Rahman syndrome 615879 for gene: DNMT3A
Skeletal dysplasia v1.153 FBLN1 Eleanor Williams Added phenotypes Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180 for gene: FBLN1
Publications for gene FBLN1 were changed from to 24084572
Skeletal dysplasia v1.153 BHLHA9 Eleanor Williams Added phenotypes Syndactyly, mesoaxial synostotic, with phalangeal reduction 609432 for gene: BHLHA9
Skeletal dysplasia v1.153 CKAP2L Eleanor Williams Added phenotypes Syndactyly with microcephaly and MR (Filippi syndrome) 272440 for gene: CKAP2L
Skeletal dysplasia v1.153 LIFR Eleanor Williams Added phenotypes Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome 601559 for gene: LIFR
Skeletal dysplasia v1.153 COL9A2 Eleanor Williams Added phenotypes Epiphyseal dysplasia, multiple, 2 600204; Stickler syndrome, type V 614284; Stickler syndrome, type V, 614284; {Intervertebral disc disease, susceptibility to}, 603932 for gene: COL9A2
Skeletal dysplasia v1.153 FAM58A Eleanor Williams Added phenotypes STAR syndrome 300707 for gene: FAM58A
Skeletal dysplasia v1.153 TTC21B Eleanor Williams Added phenotypes Nephronophthisis 12, 613820; Asphyxiating Thoracic Dystrophy; SRTD4 for gene: TTC21B
Skeletal dysplasia v1.153 IFT172 Eleanor Williams Added phenotypes Short-rib thoracic dysplasia 10 with or without polydactyly, 615630; SRTD10 for gene: IFT172
Skeletal dysplasia v1.153 XYLT2 Eleanor Williams Added phenotypes Spondyloocular syndrome 605822 for gene: XYLT2
Skeletal dysplasia v1.153 GPX4 Eleanor Williams Added phenotypes Spondylometaphyseal dysplasia, Sedaghatian type 250220 for gene: GPX4
Publications for gene GPX4 were changed from to 24706940
Skeletal dysplasia v1.153 PAM16 Eleanor Williams Added phenotypes Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 613320 for gene: PAM16
Publications for gene PAM16 were changed from 27354339; 24786642 to 24786642; 27354339
Skeletal dysplasia v1.153 FN1 Eleanor Williams Added phenotypes Spondylometaphyseal dysplasia, corner fracture type 184255 for gene: FN1
Publications for gene FN1 were changed from to 29100092
Skeletal dysplasia v1.153 C21orf2 Eleanor Williams Added phenotypes Spondylometaphyseal dysplasia, axial 602271 for gene: C21orf2
Skeletal dysplasia v1.153 PCYT1A Eleanor Williams Added phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy 608940 for gene: PCYT1A
Skeletal dysplasia v1.153 DDR2 Eleanor Williams Added phenotypes Spondylometaepiphyseal dysplasia, short limb-hand type 271665, at least 3 cases reported for gene: DDR2
Skeletal dysplasia v1.153 CHST3 Eleanor Williams Added phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) 143095 for gene: CHST3
Skeletal dysplasia v1.153 TRAPPC2 Eleanor Williams Added phenotypes Spondyloepiphyseal dysplasia tarda 313400 for gene: TRAPPC2
Skeletal dysplasia v1.153 NANS Eleanor Williams Added phenotypes Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 610442 for gene: NANS
Skeletal dysplasia v1.153 KIF22 Eleanor Williams Added phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 2 603546 for gene: KIF22
Skeletal dysplasia v1.153 ACP5 Eleanor Williams Added phenotypes Spondyloenchondrodysplasia with immune dysregulation 607944 for gene: ACP5
Skeletal dysplasia v1.153 RIPPLY2 Eleanor Williams Added phenotypes Spondylocostal dysostosis 6 - 616566 for gene: RIPPLY2
Publications for gene RIPPLY2 were changed from to 26238661; 25343988
Skeletal dysplasia v1.153 TBX6 Eleanor Williams Added phenotypes Spondylocostal dysostosis 5 122600 for gene: TBX6
Skeletal dysplasia v1.153 HES7 Eleanor Williams Added phenotypes Spondylocostal dysostosis 4, autosomal recessive 613686 for gene: HES7
Skeletal dysplasia v1.153 LFNG Eleanor Williams Added phenotypes Spondylocostal dysostosis 3, autosomal recessive 609813 for gene: LFNG
Publications for gene LFNG were changed from to 30196550; 16385447
Skeletal dysplasia v1.153 MESP2 Eleanor Williams Added phenotypes Spondylocostal dysostosis 2, autosomal recessive 608681 for gene: MESP2
Publications for gene MESP2 were changed from to 15122512; 18485326
Skeletal dysplasia v1.153 DLL3 Eleanor Williams Added phenotypes Spondylocostal dysostosis 1, autosomal recessive 277300 for gene: DLL3
Skeletal dysplasia v1.153 SLC39A13 Eleanor Williams Added phenotypes Spondylocheirodysplasia, Ehlers-Danlos syndrome-like 612350 for gene: SLC39A13
Skeletal dysplasia v1.153 NKX3-2 Eleanor Williams Added phenotypes Spondylo-megaepiphyseal-metaphyseal dysplasia 613330 for gene: NKX3-2
Skeletal dysplasia v1.153 WNT10B Eleanor Williams Added phenotypes Split-hand/foot malformation 6 225300 for gene: WNT10B
Skeletal dysplasia v1.153 DLX5 Eleanor Williams Added phenotypes Split-hand/foot malformation 1 with sensorineural hearing loss 220600 for gene: DLX5
Publications for gene DLX5 were changed from to 27085093
Skeletal dysplasia v1.153 DLX6 Eleanor Williams Added phenotypes Split-hand/foot malformation 1 183600 for gene: DLX6
Publications for gene DLX6 were changed from to 28611547
Skeletal dysplasia v1.153 NSD1 Eleanor Williams Added phenotypes Sotos syndrome 1 117550 for gene: NSD1
Skeletal dysplasia v1.153 RAB33B Eleanor Williams Added phenotypes Smith-McCort dysplasia 2 615222 for gene: RAB33B
Skeletal dysplasia v1.153 IFIH1 Eleanor Williams Added phenotypes Singleton-Merten syndrome 1 (182250) for gene: IFIH1
Publications for gene IFIH1 were changed from to 25620204
Skeletal dysplasia v1.153 NEU1 Eleanor Williams Added phenotypes Sialidosis, type II 256550; Sialidosis, type I 256550 for gene: NEU1
Skeletal dysplasia v1.153 SLC17A5 Eleanor Williams Added phenotypes Sialic acid storage disorder, infantile 269920 for gene: SLC17A5
Skeletal dysplasia v1.153 SBDS Eleanor Williams Added phenotypes Shwachman-Diamond syndrome 260400 for gene: SBDS
Skeletal dysplasia v1.153 SKI Eleanor Williams Added phenotypes Shprintzen-Goldberg syndrome 182212 for gene: SKI
Skeletal dysplasia v1.153 IFT140 Eleanor Williams Added phenotypes Short-rib thoracic dysplasia 9 with of without polydactyly, 266920 for gene: IFT140
Skeletal dysplasia v1.153 WDR60 Eleanor Williams Added phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly 615503 for gene: WDR60
Skeletal dysplasia v1.153 WDR19 Eleanor Williams Added phenotypes Cranioectodermal dysplasia 4, 614378; Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 for gene: WDR19
Publications for gene WDR19 were changed from to 22019273; 24504730
Skeletal dysplasia v1.153 IFT80 Eleanor Williams Added phenotypes Short-rib thoracic dysplasia 2 with or without polydactyly 611263 for gene: IFT80
Skeletal dysplasia v1.153 IFT43 Eleanor Williams Added phenotypes Short-rib thoracic dysplasia 18 with polydactyly - 617866; ?Cranioectodermal dysplasia 3 - 614099 for gene: IFT43
Publications for gene IFT43 were changed from 21378380; 22791528; 26892345; 24027799 to 26892345; 24027799; 28400947; 22791528; 21378380
Skeletal dysplasia v1.153 TCTEX1D2 Eleanor Williams Added phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, 617405 for gene: TCTEX1D2
Publications for gene TCTEX1D2 were changed from 26044572; 25830415 to 26044572; 25830415
Skeletal dysplasia v1.153 IFT52 Eleanor Williams Added phenotypes SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY, SRTD16 #617102 for gene: IFT52
Publications for gene IFT52 were changed from 27466190; 26880018 to 2688018; 27466190
Skeletal dysplasia v1.153 DYNC2LI1 Eleanor Williams Added phenotypes SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15 #617088 for gene: DYNC2LI1
Skeletal dysplasia v1.153 CEP120 Eleanor Williams Added phenotypes Joubert syndrome 213300; Short-rib thoracic dysplasia 13 with or without polydactyly 616300 for gene: CEP120
Publications for gene CEP120 were changed from 27208211; 27208211 to 27208211
Skeletal dysplasia v1.153 WDR34 Eleanor Williams Added phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 for gene: WDR34
Skeletal dysplasia v1.153 PIK3R1 Eleanor Williams Added phenotypes SHORT syndrome 269880 for gene: PIK3R1
Skeletal dysplasia v1.153 POC1A Eleanor Williams Added phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813 for gene: POC1A
Publications for gene POC1A were changed from 26162852; 26336158; 26374189 to 26374189; 26162852; 26336158
Skeletal dysplasia v1.153 XRCC4 Eleanor Williams Added phenotypes Short stature, microcephaly, and endocrine dysfunction 616541 for gene: XRCC4
Skeletal dysplasia v1.153 PRMT7 Eleanor Williams Added phenotypes Short stature, brachydactyly, intellectual developmental disability, and seizures 617157 for gene: PRMT7
Skeletal dysplasia v1.153 NEK1 Eleanor Williams Added phenotypes Short rib thoracic dysplasia 6 with or without polydactyly - 263520 for gene: NEK1
Skeletal dysplasia v1.153 DYNC2H1 Eleanor Williams Added phenotypes Short rib polydactyly syndrome (SRPS) type 3 with or without polydactyly, 613091 for gene: DYNC2H1
Publications for gene DYNC2H1 were changed from to 21211617
Skeletal dysplasia v1.153 ASXL2 Eleanor Williams Added phenotypes Shashi-Pena syndrome 617190 for gene: ASXL2
Skeletal dysplasia v1.153 NIN Eleanor Williams Added phenotypes Seckel syndrome 7 614851 for gene: NIN
Publications for gene NIN were changed from 23665482; 22933543 to 22933543; 23665482
Skeletal dysplasia v1.153 SLC35D1 Eleanor Williams Added phenotypes Schneckenbecken dysplasia 269250 for gene: SLC35D1
Skeletal dysplasia v1.153 SMARCAL1 Eleanor Williams Added phenotypes Schimke immunoosseous dysplasia 242900 for gene: SMARCAL1
Skeletal dysplasia v1.153 EP300 Eleanor Williams Added phenotypes Rubinstein-Taybi syndrome 180849 for gene: EP300
Skeletal dysplasia v1.153 CREBBP Eleanor Williams Added phenotypes Rubinstein-Taybi syndrome 180849 for gene: CREBBP
Skeletal dysplasia v1.153 DVL3 Eleanor Williams Added phenotypes Robinow syndrome, autosomal dominant 3, 616894 for gene: DVL3
Skeletal dysplasia v1.153 DVL1 Eleanor Williams Added phenotypes Robinow syndrome, autosomal dominant 2 616331 for gene: DVL1
Publications for gene DVL1 were changed from to 25817016; 25817014
Skeletal dysplasia v1.153 WNT5A Eleanor Williams Added phenotypes Robinow syndrome, autosomal dominant 1 180700 for gene: WNT5A
Skeletal dysplasia v1.153 ESCO2 Eleanor Williams Added phenotypes SC phocomelia syndrome 269000; Roberts syndrome 268300 for gene: ESCO2
Skeletal dysplasia v1.153 PEX7 Eleanor Williams Added phenotypes Rhizomelic chondrodysplasia punctata, type 1, 215100; Rhizomelic CDP type 1 for gene: PEX7
Publications for gene PEX7 were changed from to 28742517; 25800479; 7719337
Skeletal dysplasia v1.153 GNPAT Eleanor Williams Added phenotypes Rhizomelic Chondrodysplasia Punctata; RCDP2; Rhizomelic chondrodysplasia punctata type 2; Chondrodysplasia punctata, rhizomelic, type 2, 222765 for gene: GNPAT
Skeletal dysplasia v1.153 FAM20C Eleanor Williams Added phenotypes Raine syndrome 259775 for gene: FAM20C
Skeletal dysplasia v1.153 HOXA11 Eleanor Williams Added phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 605432 for gene: HOXA11
Publications for gene HOXA11 were changed from to 11101832
Skeletal dysplasia v1.153 SFRP4 Eleanor Williams Added phenotypes PYL; Metaphyseal dysplasia; Pyle disease 265900 for gene: SFRP4
Publications for gene SFRP4 were changed from 27355534; 28100910; 27117872; 24096177; 26273529; 22965941; 22387305; 20174869; 27117872 to 27355534; 26273529; 20174869; 27117872; 22965941; 28100910; 24096177; 22387305
Skeletal dysplasia v1.153 CTSK Eleanor Williams Added phenotypes Pycnodysostosis 265800 for gene: CTSK
Skeletal dysplasia v1.153 PSPH Eleanor Williams Added phenotypes Phosphoserine phosphatase deficiency 614023 for gene: PSPH
Skeletal dysplasia v1.153 PEX5 Eleanor Williams Added phenotypes Peroxisome biogenesis disorder 2A (Zellweger) 214110; Rhizomelic chondrodysplasia punctata, type 5 616716 for gene: PEX5
Skeletal dysplasia v1.153 DIS3L2 Eleanor Williams Added phenotypes Perlman syndrome 267000 for gene: DIS3L2
Publications for gene DIS3L2 were changed from to 22306653
Skeletal dysplasia v1.153 TNFRSF11B Eleanor Williams Added phenotypes Paget disease of bone 5, juvenile-onset 239000 for gene: TNFRSF11B
Skeletal dysplasia v1.153 SNX10 Eleanor Williams Added phenotypes Osteopetrosis, autosomal recessive 8 615085 for gene: SNX10
Skeletal dysplasia v1.153 PLEKHM1 Eleanor Williams Added phenotypes Osteopetrosis, autosomal recessive 6 - 611497; Osteopetrosis, autosomal dominant 3 - 618107 for gene: PLEKHM1
Publications for gene PLEKHM1 were changed from 17997709 to 17404618; 27291868; 17997709
Skeletal dysplasia v1.153 OSTM1 Eleanor Williams Added phenotypes Osteopetrosis, autosomal recessive 5 259720 for gene: OSTM1
Skeletal dysplasia v1.153 CA2 Eleanor Williams Added phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730 for gene: CA2
Skeletal dysplasia v1.153 TNFSF11 Eleanor Williams Added phenotypes Osteopetrosis, autosomal recessive 2 259710 for gene: TNFSF11
Skeletal dysplasia v1.153 TCIRG1 Eleanor Williams Added phenotypes Osteopetrosis, autosomal recessive 1 259700 for gene: TCIRG1
Skeletal dysplasia v1.153 CLCN7 Eleanor Williams Added phenotypes Osteopetrosis, autosomal recessive 4 611490; Osteopetrosis, autosomal dominant 2 166600 for gene: CLCN7
Skeletal dysplasia v1.153 AMER1 Eleanor Williams Added phenotypes Osteopathia striata with cranial sclerosis 300373 for gene: AMER1
Skeletal dysplasia v1.153 TNFRSF11A Eleanor Williams Added phenotypes Osteolysis, familial expansile 174810; Osteopetrosis, autosomal recessive 7 612301; Paget disease of bone 2, early-onset 602080 for gene: TNFRSF11A
Skeletal dysplasia v1.153 CREB3L1 Eleanor Williams Added phenotypes Osteogenesis imperfecta, type XVI 616229 for gene: CREB3L1
Publications for gene CREB3L1 were changed from 25007323 to 25007323; 29936144.; 28817112
Skeletal dysplasia v1.153 BMP1 Eleanor Williams Added phenotypes Osteogenesis imperfecta, type XIII, 614856 for gene: BMP1
Skeletal dysplasia v1.153 SP7 Eleanor Williams Added phenotypes Osteogenesis imperfecta, type XII 613849 for gene: SP7
Publications for gene SP7 were changed from 20579626 to 2057926; 29382611
Skeletal dysplasia v1.153 P3H1 Eleanor Williams Added phenotypes Osteogenesis imperfecta, type VIII 610915 for gene: P3H1
Skeletal dysplasia v1.153 CRTAP Eleanor Williams Added phenotypes Osteogenesis imperfecta, type VII 610682 for gene: CRTAP
Skeletal dysplasia v1.153 IFITM5 Eleanor Williams Added phenotypes Osteogenesis imperfecta, type V 610967 for gene: IFITM5
Skeletal dysplasia v1.153 PPIB Eleanor Williams Added phenotypes Osteogenesis imperfecta, type IX 259440 for gene: PPIB
Skeletal dysplasia v1.153 ACAN Eleanor Williams Added phenotypes Osteochondritis dissecans, short stature, and early-onset osteoarthritis 165800; Spondyloepimetaphyseal dysplasia, aggrecan type 61283; Spondyloepiphyseal dysplasia, Kimberley type 608361 for gene: ACAN
Skeletal dysplasia v1.153 C2CD3 Eleanor Williams Added phenotypes Orofaciodigital syndrome XIV 615948 for gene: C2CD3
Skeletal dysplasia v1.153 INPPL1 Eleanor Williams Added phenotypes Opsismodysplasia 258480 for gene: INPPL1
Skeletal dysplasia v1.153 SMOC1 Eleanor Williams Added phenotypes Microphthalmia with limb anomalies 206920; Ophthalmo-acromelic syndrome; Polydactyly for gene: SMOC1
Skeletal dysplasia v1.153 GPC6 Eleanor Williams Added phenotypes Omodysplasia 1 258315 for gene: GPC6
Skeletal dysplasia v1.153 SALL4 Eleanor Williams Added phenotypes Okihiro (Duane-radial ray) syndrome 607323; IVIC syndrome 147750 for gene: SALL4
Skeletal dysplasia v1.153 SERPINH1 Eleanor Williams Added phenotypes Osteogenesis Imperfecta, Recessive; OI3; Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias; {Preterm premature rupture of the membranes, susceptibility to}, 610504; Osteogenesis imperfecta, type X, 613848 for gene: SERPINH1
Publications for gene SERPINH1 were changed from to 25510505; 20188343
Skeletal dysplasia v1.153 WNT1 Eleanor Williams Added phenotypes osteogenesis imperfecta; OI/osteoporosis; {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221; Osteogenesis imperfecta, type XV, 615220 for gene: WNT1
Skeletal dysplasia v1.153 SERPINF1 Eleanor Williams Added phenotypes Osteogenesis imperfecta, type VI, 613982; osteogenesis imperfecta; OI/osteoporosis; Osteogenesis Imperfecta, Recessive for gene: SERPINF1
Skeletal dysplasia v1.153 NF1 Eleanor Williams Added phenotypes Neurofibromatosis, familial spinal 162210; Neurofibromatosis-Noonan syndrome 601321; Neurofibromatosis, type 1 162200 for gene: NF1
Skeletal dysplasia v1.153 PSAT1 Eleanor Williams Added phenotypes Neu-Laxova syndrome 2 616038 for gene: PSAT1
Skeletal dysplasia v1.153 PHGDH Eleanor Williams Added phenotypes Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815 for gene: PHGDH
Skeletal dysplasia v1.153 TYROBP Eleanor Williams Added phenotypes Nasu-Hakola disease 221770 for gene: TYROBP
Skeletal dysplasia v1.153 TREM2 Eleanor Williams Added phenotypes Nasu-Hakola disease 221770 for gene: TREM2
Skeletal dysplasia v1.153 LMX1B Eleanor Williams Added phenotypes Nail-patella syndrome 161200 for gene: LMX1B
Skeletal dysplasia v1.153 SMAD4 Eleanor Williams Added phenotypes Myhre syndrome 139210 for gene: SMAD4
Skeletal dysplasia v1.153 SUMF1 Eleanor Williams Added phenotypes Multiple sulfatase deficiency 272200 for gene: SUMF1
Skeletal dysplasia v1.153 PIGT Eleanor Williams Added phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398 for gene: PIGT
Publications for gene PIGT were changed from 28327575 to 29868109; 28327575
Skeletal dysplasia v1.153 MMP2 Eleanor Williams Added phenotypes Multicentric osteolysis, nodulosis, and arthropathy 259600 for gene: MMP2
Skeletal dysplasia v1.153 MAFB Eleanor Williams Added phenotypes Multicentric carpotarsal osteolysis syndrome 166300 for gene: MAFB
Publications for gene MAFB were changed from to 2387013; 30305815; 30430035
Skeletal dysplasia v1.153 GUSB Eleanor Williams Added phenotypes Mucopolysaccharidosis VII 253220 for gene: GUSB
Skeletal dysplasia v1.153 ARSB Eleanor Williams Added phenotypes Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200 for gene: ARSB
Skeletal dysplasia v1.153 GNS Eleanor Williams Added phenotypes Mucopolysaccharidosis type IIID 252940 for gene: GNS
Skeletal dysplasia v1.153 HGSNAT Eleanor Williams Added phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930 for gene: HGSNAT
Skeletal dysplasia v1.153 NAGLU Eleanor Williams Added phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920 for gene: NAGLU
Skeletal dysplasia v1.153 GALNS Eleanor Williams Added phenotypes Mucopolysaccharidosis IVA 253000 for gene: GALNS
Skeletal dysplasia v1.153 IDS Eleanor Williams Added phenotypes Mucopolysaccharidosis II 309900 for gene: IDS
Skeletal dysplasia v1.153 IDUA Eleanor Williams Added phenotypes Mucopolysaccharidosis Ih 607014; Mucopolysaccharidosis Is 607016; Mucopolysaccharidosis Ih/s 607015 for gene: IDUA
Skeletal dysplasia v1.153 SGSH Eleanor Williams Added phenotypes Mucopolysaccharidisis type IIIA (Sanfilippo A) 252900 for gene: SGSH
Skeletal dysplasia v1.153 GNPTG Eleanor Williams Added phenotypes Mucolipidosis III gamma 252605 for gene: GNPTG
Skeletal dysplasia v1.153 GNPTAB Eleanor Williams Added phenotypes Mucolipidosis III alpha/beta 252600; Mucolipidosis II alpha/beta 252500 for gene: GNPTAB
Skeletal dysplasia v1.153 DHODH Eleanor Williams Added phenotypes Miller syndrome (postaxial acrofacial dysostosis) 263750 for gene: DHODH
Skeletal dysplasia v1.153 PCNT Eleanor Williams Added phenotypes Microcephalic osteodysplastic primordial dwarfism, type II 210720 for gene: PCNT
Skeletal dysplasia v1.153 RNU4ATAC Eleanor Williams Added phenotypes Roifman syndrome 616651; Microcephalic osteodysplastic primordial dwarfism, type I 210710 for gene: RNU4ATAC
Skeletal dysplasia v1.153 IDH1 Eleanor Williams Added phenotypes Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875; Maffucci syndrome 614569; Ollier disease/ Dyschondroplasia 166000 for gene: IDH1
Publications for gene IDH1 were changed from 22025298; 22057234 to 24049096; 22025298; 22057234; 22057236
Skeletal dysplasia v1.153 COL10A1 Eleanor Williams Added phenotypes Metaphyseal chondrodysplasia, Schmid type 156500 for gene: COL10A1
Skeletal dysplasia v1.153 MMP9 Eleanor Williams Added phenotypes Metaphyseal anadysplasia 2 613073 for gene: MMP9
Publications for gene MMP9 were changed from to 28342220; 24781753; 19615667
Skeletal dysplasia v1.153 MMP13 Eleanor Williams Added phenotypes Metaphyseal anadysplasia 1 602111; Spondyloepimetaphyseal dysplasia, Missouri type 602111; Metaphyseal dysplasia, Spahr type - 250400 for gene: MMP13
Publications for gene MMP13 were changed from to 24648384
Skeletal dysplasia v1.153 FGF16 Eleanor Williams Added phenotypes Metacarpal 4-5 fusion 309630 for gene: FGF16
Skeletal dysplasia v1.153 SULF1 Eleanor Williams Added phenotypes Mesomelia-synostoses syndrome 600383 for gene: SULF1
Skeletal dysplasia v1.153 SLCO5A1 Eleanor Williams Added phenotypes Mesomelia-synostoses syndrome 600383 for gene: SLCO5A1
Skeletal dysplasia v1.153 KAT6A Eleanor Williams Added phenotypes Mental retardation, autosomal dominant 32 - 616268 for gene: KAT6A
Skeletal dysplasia v1.153 ATP7A Eleanor Williams Added phenotypes Spinal muscular atrophy, distal, 300489; Menkes disease 309400; Occipital horn syndrome 304150 for gene: ATP7A
Skeletal dysplasia v1.153 FLNA Eleanor Williams Added phenotypes Terminal osseous dysplasia 300244; Melnick Needles syndrome 309350; Frontometaphyseal dysplasia 305620; Otopalatodigital syndrome, type II -304120; Otopalatodigital syndrome, type I -311300 for gene: FLNA
Skeletal dysplasia v1.153 CDC45 Eleanor Williams Added phenotypes Craniosynostosis (Wilkie) (from Ana Beleza); Meier-Gorlin syndrome with craniosynostosis (from PMID 27374770) for gene: CDC45
Skeletal dysplasia v1.153 CDT1 Eleanor Williams Added phenotypes Meier-Gorlin syndrome 4 613804 for gene: CDT1
Skeletal dysplasia v1.153 ORC6 Eleanor Williams Added phenotypes Meier-Gorlin syndrome 3 613803 for gene: ORC6
Skeletal dysplasia v1.153 ORC4 Eleanor Williams Added phenotypes Meier-Gorlin syndrome 2 613800 for gene: ORC4
Skeletal dysplasia v1.153 ORC1 Eleanor Williams Added phenotypes Meier-Gorlin syndrome 1 224690 for gene: ORC1
Skeletal dysplasia v1.153 COL9A3 Eleanor Williams Added phenotypes MED; multiple epiphyseal dysplasia 3, with or without myopathy - 600969 for gene: COL9A3
Skeletal dysplasia v1.153 B9D1 Eleanor Williams Added phenotypes Meckel syndrome 9 614209 for gene: B9D1
Publications for gene B9D1 were changed from 24886560; 21493627 to 21493627; 24886560
Skeletal dysplasia v1.153 TCTN2 Eleanor Williams Added phenotypes Joubert syndrome 24 616654; Meckel syndrome 8 613885 for gene: TCTN2
Skeletal dysplasia v1.153 CC2D2A Eleanor Williams Added phenotypes Meckel syndrome 6 612284 for gene: CC2D2A
Publications for gene CC2D2A were changed from 18513680; 24706459; 23351400 to 23351400; 24706459; 18513680
Skeletal dysplasia v1.153 GNAS Eleanor Williams Added phenotypes Pseudohypoparathyroidism Ia 103580; Pseudohypoparathyroidism Ib 603233; Osseous heteroplasia, progressive 166350; McCune-Albright syndrome, somatic, mosaic 174800 for gene: GNAS
Skeletal dysplasia v1.153 NFIX Eleanor Williams Added phenotypes Marshall-Smith syndrome 602535; Sotos syndrome 2 614753 for gene: NFIX
Skeletal dysplasia v1.153 MAN2B1 Eleanor Williams Added phenotypes Mannosidosis, alpha-, types I and II 248500 for gene: MAN2B1
Skeletal dysplasia v1.153 EFTUD2 Eleanor Williams Added phenotypes Mandibulofacial dysostosis, Guion-Almeida type 610536 for gene: EFTUD2
Publications for gene EFTUD2 were changed from 19334086; 16760738; 22305528 to 16760738; 19334086; 22305528
Skeletal dysplasia v1.153 ZMPSTE24 Eleanor Williams Added phenotypes Mandibuloacral dysplasia with type B lipodystrophy 608612; Restrictive dermopathy, lethal 275210 for gene: ZMPSTE24
Skeletal dysplasia v1.153 LMNA Eleanor Williams Added phenotypes Heart-hand syndrome, Slovenian type 610140; 616516; Hutchinson-Gilford progeria 176670; Mandibuloacral dysplasia 248370 for gene: LMNA
Skeletal dysplasia v1.153 LPIN2 Eleanor Williams Added phenotypes Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628 for gene: LPIN2
Publications for gene LPIN2 were changed from to 29912021
Skeletal dysplasia v1.153 FBLIM1 Eleanor Williams Added phenotypes Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628 for gene: FBLIM1
Publications for gene FBLIM1 were changed from to 29912021
Skeletal dysplasia v1.153 SETD2 Eleanor Williams Added phenotypes Luscan-Lumish syndrome 616831 for gene: SETD2
Skeletal dysplasia v1.153 TGFB2 Eleanor Williams Added phenotypes Loeys-Dietz syndrome 4 614816 for gene: TGFB2
Skeletal dysplasia v1.153 SMAD3 Eleanor Williams Added phenotypes Loeys-Dietz syndrome 3 613795 for gene: SMAD3
Skeletal dysplasia v1.153 TGFBR2 Eleanor Williams Added phenotypes Loeys-Dietz syndrome 2 610168 for gene: TGFBR2
Skeletal dysplasia v1.153 TGFBR1 Eleanor Williams Added phenotypes Loeys-Dietz syndrome 1 609192 for gene: TGFBR1
Skeletal dysplasia v1.153 FERMT3 Eleanor Williams Added phenotypes Leukocyte adhesion deficiency, type III 612840 for gene: FERMT3
Publications for gene FERMT3 were changed from to 18709451
Skeletal dysplasia v1.153 PTPN11 Eleanor Williams Added phenotypes Metachondromatosis 156250; LEOPARD syndrome 1 151100; Noonan syndrome 1 163950 for gene: PTPN11
Skeletal dysplasia v1.153 PTDSS1 Eleanor Williams Added phenotypes Lenz-Majewski hyperostotic dwarfism 151050 for gene: PTDSS1
Skeletal dysplasia v1.153 GZF1 Eleanor Williams Added phenotypes Larsen syndrome for gene: GZF1
Skeletal dysplasia v1.153 B3GAT3 Eleanor Williams Added phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600; Larsen alike phenotype (skd incl) for gene: B3GAT3
Skeletal dysplasia v1.153 GHR Eleanor Williams Added phenotypes increased responsiveness to growth hormone 604271; Laron dwarfism, 262500; Growth hormone insensitivity for gene: GHR
Skeletal dysplasia v1.153 SHOX Eleanor Williams Added phenotypes Langer mesomelic dysplasia 249700; Short stature, idiopathic familial 300582; Leri-Weill dyschondrosteosis 127300 for gene: SHOX
Skeletal dysplasia v1.153 FGF10 Eleanor Williams Added phenotypes LADD syndrome 149730 for gene: FGF10
Skeletal dysplasia v1.153 MEOX1 Eleanor Williams Added phenotypes Klippel-Feil syndrome 2 214300 for gene: MEOX1
Skeletal dysplasia v1.153 GDF6 Eleanor Williams Added phenotypes Klippel-Feil syndrome 1, autosomal dominant 118100; Multiple synostoses syndrome type 4 - 617898. for gene: GDF6
Publications for gene GDF6 were changed from to 18425797
Skeletal dysplasia v1.153 GDF3 Eleanor Williams Added phenotypes Klippel-Feil anomaly with laryngeal malformation - 613702 for gene: GDF3
Publications for gene GDF3 were changed from to 19864492
Skeletal dysplasia v1.153 MGP Eleanor Williams Added phenotypes Keutel syndrome 245150 for gene: MGP
Skeletal dysplasia v1.153 ANKRD11 Eleanor Williams Added phenotypes KBG syndrome 148050 for gene: ANKRD11
Skeletal dysplasia v1.153 KMT2D Eleanor Williams Added phenotypes Kabuki syndrome 1 - 147920 for gene: KMT2D
Skeletal dysplasia v1.153 CSPP1 Eleanor Williams Added phenotypes ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy; ORPHA:475 Joubert syndrome; ORPHA:564 Meckel syndrome; Joubert syndrome 21 615636 for gene: CSPP1
Publications for gene CSPP1 were changed from to 24360808; 24360803
Skeletal dysplasia v1.153 TMEM231 Eleanor Williams Added phenotypes Joubert syndrome 20 614970; Meckel syndrome 11 615397 for gene: TMEM231
Skeletal dysplasia v1.153 TMEM216 Eleanor Williams Added phenotypes Meckel syndrome 2 603194; Joubert syndrome 2 608091 for gene: TMEM216
Skeletal dysplasia v1.153 TCTN3 Eleanor Williams Added phenotypes Orofaciodigital syndrome IV 258860; Joubert syndrome 18 614815 for gene: TCTN3
Skeletal dysplasia v1.153 OFD1 Eleanor Williams Added phenotypes Joubert syndrome 10 300804; Simpson-Golabi-Behmel syndrome, type 2 300209 XLR; Orofaciodigital syndrome I 311200 XLD for gene: OFD1
Skeletal dysplasia v1.153 TBX4 Eleanor Williams Added phenotypes Ischiocoxopodopatellar syndrome 147891 for gene: TBX4
Skeletal dysplasia v1.153 IL1RN Eleanor Williams Added phenotypes Interleukin 1 receptor antagonist deficiency 612852 for gene: IL1RN
Skeletal dysplasia v1.153 EXTL3 Eleanor Williams Added phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425 for gene: EXTL3
Skeletal dysplasia v1.153 PGM3 Eleanor Williams Added phenotypes Immunodeficiency 23 615816 for gene: PGM3
Skeletal dysplasia v1.153 CDKN1C Eleanor Williams Added phenotypes IMAGE syndrome 614732 for gene: CDKN1C
Skeletal dysplasia v1.153 PHEX Eleanor Williams Added phenotypes Hypophosphatemic rickets, X-linked dominant 307800 for gene: PHEX
Skeletal dysplasia v1.153 FGF23 Eleanor Williams Added phenotypes Hypophosphatemic rickets, autosomal dominant 193100 for gene: FGF23
Skeletal dysplasia v1.153 DMP1 Eleanor Williams Added phenotypes Hypophosphatemic rickets, AR, 241520 for gene: DMP1
Skeletal dysplasia v1.153 SLC34A3 Eleanor Williams Added phenotypes Hypophosphatemic rickets with hypercalciuria 241530 for gene: SLC34A3
Skeletal dysplasia v1.153 ALPL Eleanor Williams Added phenotypes hypophosphatasia; skeletal dysplasias; Osteogenesis Imperfecta and Decreased Bone Density for gene: ALPL
Skeletal dysplasia v1.153 TBCE Eleanor Williams Added phenotypes Hypoparathyroidism-retardation-dysmorphism syndrome 241410; Kenny-Caffey syndrome, type 1 244460. for gene: TBCE
Skeletal dysplasia v1.153 SLCO2A1 Eleanor Williams Added phenotypes Hypertrophic osteoarthropathy, primary, autosomal recessive 2 614441 for gene: SLCO2A1
Skeletal dysplasia v1.153 ABCC9 Eleanor Williams Added phenotypes Hypertrichotic osteochondrodysplasia 23985 (Cantu syndrome) for gene: ABCC9
Skeletal dysplasia v1.153 PDE3A Eleanor Williams Added phenotypes Hypertension and brachydactyly syndrome, 112410 for gene: PDE3A
Skeletal dysplasia v1.153 PIGV Eleanor Williams Added phenotypes Hyperphosphatasia with mental retardation syndrome 1 239300 for gene: PIGV
Skeletal dysplasia v1.153 CASR Eleanor Williams Added phenotypes Hypocalcemia, autosomal dominant 601198; Hypocalciuric hypercalcemia, type I 145980; Hyperparathyroidism, neonatal 239200; Hypocalcemia, autosomal dominant, with Bartter syndrome 601198 for gene: CASR
Skeletal dysplasia v1.153 LRP5 Eleanor Williams Added phenotypes [Bone mineral density variability 1] 601884; Osteopetrosis, autosomal dominant 1 607634; Osteosclerosis 144750; van Buchem disease, type 2 607636; Osteoporosis-pseudoglioma syndrome 259770; Hyperostosis, endosteal 144750; {Osteoporosis} 166710 for gene: LRP5
Skeletal dysplasia v1.153 ANTXR2 Eleanor Williams Added phenotypes Hyaline fibromatosis syndrome 228600 for gene: ANTXR2
Skeletal dysplasia v1.153 TBX5 Eleanor Williams Added phenotypes Holt-Oram syndrome 142900 for gene: TBX5
Skeletal dysplasia v1.153 SLC29A3 Eleanor Williams Added phenotypes Histiocytosis-lymphadenopathy plus syndrome 602782 for gene: SLC29A3
Skeletal dysplasia v1.153 FGFR1 Eleanor Williams Added phenotypes Osteoglophonic dysplasia 166250; Hartsfield syndrome 615465; Jackson-Weiss syndrome 123150; Pfeiffer syndrome 101600; Trigonocephaly 1 190440 for gene: FGFR1
Skeletal dysplasia v1.153 CTSC Eleanor Williams Added phenotypes Haim-Munk syndrome 245010, for gene: CTSC
Skeletal dysplasia v1.153 OAT Eleanor Williams Added phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia 258870 for gene: OAT
Skeletal dysplasia v1.153 HOXA13 Eleanor Williams Added phenotypes Hand-foot-uterus syndrome 140000; Guttmacher syndrome 176305 for gene: HOXA13
Skeletal dysplasia v1.153 GLI3 Eleanor Williams Added phenotypes Greig cephalopolysyndactyly syndrome 175700; Polydactyly, postaxial, types A1 and B 174200; Polydactyly, preaxial, type IV 174700; Pallister-Hall syndrome 146510; {Hypothalamic hamartomas, somatic} 241800 for gene: GLI3
Skeletal dysplasia v1.153 LBR Eleanor Williams Added phenotypes Pelger-Huet anomaly with mild skeletal anomalies 618019; Greenberg skeletal dysplasia 215140; Pelger-Huet anomaly 169400 for gene: LBR
Skeletal dysplasia v1.153 FAM111A Eleanor Williams Added phenotypes Gracile bone dysplasia 602361; Kenny-Caffey syndrome, type 2 127000 for gene: FAM111A
Skeletal dysplasia v1.153 ANO5 Eleanor Williams Added phenotypes Gnatodiaphyseal dysplasia; Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias; Disproportionate Short Stature for gene: ANO5
Skeletal dysplasia v1.153 GLB1 Eleanor Williams Added phenotypes GM1-gangliosidosis, type I 230500; Mucopolysaccharidosis type IVB (Morquio) 253010 for gene: GLB1
Skeletal dysplasia v1.153 TBXAS1 Eleanor Williams Added phenotypes Ghosal hematodiaphyseal syndrome 231095 for gene: TBXAS1
Skeletal dysplasia v1.153 GORAB Eleanor Williams Added phenotypes Geroderma osteodysplasticum 231070 for gene: GORAB
Skeletal dysplasia v1.153 KAT6B Eleanor Williams Added phenotypes SBBYSS syndrome 603736; Genitopatellar syndrome 606170 for gene: KAT6B
Skeletal dysplasia v1.153 LTBP3 Eleanor Williams Added phenotypes Dental anomalies and short stature 610216; Geleophysic dysplasia 3 617809 for gene: LTBP3
Skeletal dysplasia v1.153 ADAMTSL2 Eleanor Williams Added phenotypes Geleophysic dysplasia 1 231050 for gene: ADAMTSL2
Skeletal dysplasia v1.153 DCC Eleanor Williams Added phenotypes Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542 for gene: DCC
Skeletal dysplasia v1.153 CTSA Eleanor Williams Added phenotypes Galactosialidosis 256540 for gene: CTSA
Skeletal dysplasia v1.153 WNT7A Eleanor Williams Added phenotypes Ulna and fibula, absence of, with severe limb deficiency 276820; Fuhrmann syndrome 228930 for gene: WNT7A
Skeletal dysplasia v1.153 FUCA1 Eleanor Williams Added phenotypes Fucosidosis 230000 for gene: FUCA1
Skeletal dysplasia v1.153 ALX1 Eleanor Williams Added phenotypes Frontonasal dysplasia type 3 613456 for gene: ALX1
Skeletal dysplasia v1.153 ALX4 Eleanor Williams Added phenotypes Frontonasal dysplasia 2 613451 for gene: ALX4
Skeletal dysplasia v1.153 ALX3 Eleanor Williams Added phenotypes Frontonasal dysplasia 1 136760 (frontorhiny) for gene: ALX3
Skeletal dysplasia v1.153 MAP3K7 Eleanor Williams Added phenotypes Frontometaphyseal dysplasia 2, 617137 for gene: MAP3K7
Skeletal dysplasia v1.153 SH3PXD2B Eleanor Williams Added phenotypes Frank-ter Haar syndrome 249420 for gene: SH3PXD2B
Skeletal dysplasia v1.153 GSC Eleanor Williams Added phenotypes Foundation Trust) Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471 for gene: GSC
Skeletal dysplasia v1.153 ACVR1 Eleanor Williams Added phenotypes Fibrodysplasia ossificans progressiva 135100 for gene: ACVR1
Skeletal dysplasia v1.153 COL11A2 Eleanor Williams Added phenotypes Stickler syndrome, type III 184840; Otospondylomegaepiphyseal dysplasia 215150; Fibrochondrogenesis 2 614524? for gene: COL11A2
Skeletal dysplasia v1.153 COL11A1 Eleanor Williams Added phenotypes Stickler syndrome, type II 604841; Marshall syndrome 154780; Fibrochondrogenesis 1 228520 for gene: COL11A1
Skeletal dysplasia v1.153 MIR17HG Eleanor Williams Added phenotypes Feingold syndrome 2, 614326 for gene: MIR17HG
Publications for gene MIR17HG were changed from 21892160; 25391829; 19344873; 26360630 to 25391829; 21892160; 26360630; 19344873
Skeletal dysplasia v1.153 MYCN Eleanor Williams Added phenotypes Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280 for gene: MYCN
Skeletal dysplasia v1.153 EXT2 Eleanor Williams Added phenotypes Exostoses, multiple, type 2 133701 for gene: EXT2
Skeletal dysplasia v1.153 EXT1 Eleanor Williams Added phenotypes trichorhinophalangeal syndrome type 2 -150230; Exostoses, multiple, type 13370 for gene: EXT1
Skeletal dysplasia v1.153 COL9A1 Eleanor Williams Added phenotypes Stickler syndrome, type IV 614134; Epiphyseal dysplasia, multiple, 6 614135 for gene: COL9A1
Skeletal dysplasia v1.153 MATN3 Eleanor Williams Added phenotypes Spondyloepimetaphyseal dysplasia, 608728; Epiphyseal dysplasia, multiple, 5, 607078 for gene: MATN3
Skeletal dysplasia v1.153 COMP Eleanor Williams Added phenotypes Epiphyseal dysplasia, multiple, 1 132400; Pseudoachondroplasia 177170 for gene: COMP
Skeletal dysplasia v1.153 ICK Eleanor Williams Added phenotypes Endocrine-cerebroosteodysplasia 612651 for gene: ICK
Skeletal dysplasia v1.153 IDH2 Eleanor Williams Added phenotypes Enchondromatosis (Ollier) and Enchondromatosis with hermangiomata (Maffucci) 166000, metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (614875) for gene: IDH2
Publications for gene IDH2 were changed from to 24049096; 22057234; 22057236
Skeletal dysplasia v1.153 EVC2 Eleanor Williams Added phenotypes Ellis-van Creveld syndrome 225500; Weyers acrofacial dysostosis 193530 for gene: EVC2
Skeletal dysplasia v1.153 B3GALT6 Eleanor Williams Added phenotypes Ehlers-Danlos syndrome, progeroid type, 2 615349; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640 for gene: B3GALT6
Skeletal dysplasia v1.153 CHST14 Eleanor Williams Added phenotypes Ehlers-Danlos syndrome, musculocontractural type 1 601776 for gene: CHST14
Skeletal dysplasia v1.153 COL1A2 Eleanor Williams Added phenotypes Ehlers-Danlos syndrome, cardiac valvular form 225320; Ehlers-Danlos syndrome, type VIIB 130060; Osteogenesis imperfecta, type II 166210; Osteogenesis imperfecta, type III 259420; Osteogenesis imperfecta, type IV 166220 for gene: COL1A2
Skeletal dysplasia v1.153 B4GALT7 Eleanor Williams Added phenotypes Ehlers-Danlos syndrome with short stature and limb anomalies 130070 for gene: B4GALT7
Skeletal dysplasia v1.153 EVC Eleanor Williams Added phenotypes ECV1; Ellis-van Creveld syndrome, 225500 for gene: EVC
Skeletal dysplasia v1.153 IKBKG Eleanor Williams Added phenotypes Incontinentia pigmenti 308300; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301 for gene: IKBKG
Skeletal dysplasia v1.153 CDH3 Eleanor Williams Added phenotypes Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280 for gene: CDH3
Skeletal dysplasia v1.153 HSPG2 Eleanor Williams Added phenotypes Dyssegmental dysplasia, Silverman-Handmaker type 224410; Schwartz-Jampel syndrome, type 1 255800 for gene: HSPG2
Skeletal dysplasia v1.153 TERT Eleanor Williams Added phenotypes Dyskeratosis congenita, autosomal dominant 2 and autosomal recessive 4 613989 for gene: TERT
Skeletal dysplasia v1.153 DYM Eleanor Williams Added phenotypes Dyggve-Melchior-Clausen disease 223800; Smith-McCort dysplasia 607326 for gene: DYM
Skeletal dysplasia v1.153 BMPER Eleanor Williams Added phenotypes Diaphanospondylodysostosis 608022 for gene: BMPER
Skeletal dysplasia v1.153 DHCR24 Eleanor Williams Added phenotypes Desmosterolosis 602398 for gene: DHCR24
Skeletal dysplasia v1.153 XYLT1 Eleanor Williams Added phenotypes Desbuquois dysplasia 2 615777 for gene: XYLT1
Skeletal dysplasia v1.153 CANT1 Eleanor Williams Added phenotypes Desbuquois dysplasia 1 251450; multiple epiphyseal dysplasia type 7, 617719. for gene: CANT1
Skeletal dysplasia v1.153 CLCN5 Eleanor Williams Added phenotypes Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990; Dent disease 300009; Nephrolithiasis, type I 310468; Hypophosphatemic rickets 300554 for gene: CLCN5
Skeletal dysplasia v1.153 PYCR1 Eleanor Williams Added phenotypes Cutis laxa, autosomal recessive, type IIB 612940; Cutis laxa, autosomal recessive, type IIIB 614438 for gene: PYCR1
Skeletal dysplasia v1.153 ATP6V0A2 Eleanor Williams Added phenotypes Cutis laxa, autosomal recessive, type IIA 219200 for gene: ATP6V0A2
Skeletal dysplasia v1.153 MNX1 Eleanor Williams Added phenotypes Currarino syndrome 176450 for gene: MNX1
Skeletal dysplasia v1.153 MSX2 Eleanor Williams Added phenotypes Craniosynostosis, type 2 604757; Parietal foramina with cleidocranial dysplasia 168550; Parietal foramina 1 168500 for gene: MSX2
Skeletal dysplasia v1.153 TWIST1 Eleanor Williams Added phenotypes Robinow-Sorauf syndrome 180750; Saethre-Chotzen syndrome 101400; Craniosynostosis, type 1 123100; Saethre-Chotzen syndrome with eyelid anomalies 101400 for gene: TWIST1
Skeletal dysplasia v1.153 IL11RA Eleanor Williams Added phenotypes Craniosynostosis and dental anomalies 614188 for gene: IL11RA
Skeletal dysplasia v1.153 ZIC1 Eleanor Williams Added phenotypes Craniosynostosis 6 616602 for gene: ZIC1
Skeletal dysplasia v1.153 ERF Eleanor Williams Added phenotypes Chitayat syndrome - 617180; Craniosynostosis 4 600775 for gene: ERF
Skeletal dysplasia v1.153 TCF12 Eleanor Williams Added phenotypes Craniosynostosis 3 615314 for gene: TCF12
Skeletal dysplasia v1.153 HPGD Eleanor Williams Added phenotypes Cranioosteoarthropathy 259100; Digital clubbing, isolated congenital 119900; Hypertrophic osteoarthropathy, primary, autosomal recessive 1 259100 for gene: HPGD
Skeletal dysplasia v1.153 GJA1 Eleanor Williams Added phenotypes Oculodentodigital dysplasia 164200; Syndactyly, type III 186100; Erythrokeratodermia variabilis et progressiva 133200; Palmoplantar keratoderma with congenital alopecia 104100; Oculodentodigital dysplasia, autosomal recessive 257850; Craniometaphyseal dysplasia, autosomal recessive 218400; Hypoplastic left heart syndrome 1 241550 for gene: GJA1
Skeletal dysplasia v1.153 EFNB1 Eleanor Williams Added phenotypes Craniofrontonasal dysplasia 304110 for gene: EFNB1
Skeletal dysplasia v1.153 TMCO1 Eleanor Williams Added phenotypes Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980 for gene: TMCO1
Skeletal dysplasia v1.153 WDR35 Eleanor Williams Added phenotypes Short-rib thoracic dysplasia 7 with or without polydactyly 614091; Cranioectodermal dysplasia 2 613610 for gene: WDR35
Skeletal dysplasia v1.153 IFT122 Eleanor Williams Added phenotypes Cranioectodermal dysplasia 1 218330 for gene: IFT122
Skeletal dysplasia v1.153 SOST Eleanor Williams Added phenotypes Craniodiaphyseal dysplasia, autosomal dominant 122860; Van Buchem disease 239100; Sclerosteosis 1 269500 for gene: SOST
Skeletal dysplasia v1.153 AKT1 Eleanor Williams Added phenotypes Proteus syndrome, somatic 176920; Cowden syndrome 6 615109 for gene: AKT1
Skeletal dysplasia v1.153 TBX15 Eleanor Williams Added phenotypes Cousin syndrome 260660 for gene: TBX15
Skeletal dysplasia v1.153 HDAC8 Eleanor Williams Added phenotypes Wilson-Turner syndrome 309585; Cornelia de Lange syndrome 5 300882 for gene: HDAC8
Skeletal dysplasia v1.153 RAD21 Eleanor Williams Added phenotypes Cornelia de Lange syndrome 4 614701 for gene: RAD21
Skeletal dysplasia v1.153 SMC3 Eleanor Williams Added phenotypes Cornelia de Lange syndrome 3 610759 for gene: SMC3
Skeletal dysplasia v1.153 SMC1A Eleanor Williams Added phenotypes Cornelia de Lange syndrome 2 300590 for gene: SMC1A
Skeletal dysplasia v1.153 NIPBL Eleanor Williams Added phenotypes Cornelia de Lange syndrome 1 122470 for gene: NIPBL
Skeletal dysplasia v1.153 FBN2 Eleanor Williams Added phenotypes Contractural arachnodactyly, congenital 121050 for gene: FBN2
Skeletal dysplasia v1.153 NSDHL Eleanor Williams Added phenotypes Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050; CK syndrome 300831 for gene: NSDHL
Skeletal dysplasia v1.153 ABL1 Eleanor Williams Added phenotypes Congenital heart defects and skeletal malformations syndrome, 617602 for gene: ABL1
Skeletal dysplasia v1.153 RFT1 Eleanor Williams Added phenotypes Congenital disorder of glycosylation, type In 612015 for gene: RFT1
Skeletal dysplasia v1.153 ALG9 Eleanor Williams Added phenotypes Gillessen-Kaesbach-Nishimura syndrome 263210; Congenital disorder of glycosylation, type Il 608776 for gene: ALG9
Skeletal dysplasia v1.153 TMEM165 Eleanor Williams Added phenotypes Congenital disorder of glycosylation, type IIk 614727 for gene: TMEM165
Skeletal dysplasia v1.153 COG1 Eleanor Williams Added phenotypes Congenital disorder of glycosylation, type IIg 611209 for gene: COG1
Publications for gene COG1 were changed from to 16537452; 19008299
Skeletal dysplasia v1.153 ALG12 Eleanor Williams Added phenotypes Congenital disorder of glycosylation, type Ig 607143 for gene: ALG12
Skeletal dysplasia v1.153 MPDU1 Eleanor Williams Added phenotypes Congenital disorder of glycosylation, type If 609180 for gene: MPDU1
Skeletal dysplasia v1.153 DPM1 Eleanor Williams Added phenotypes Congenital disorder of glycosylation, type Ie 608799 for gene: DPM1
Publications for gene DPM1 were changed from to 23856421; 10642602; 15669674
Skeletal dysplasia v1.153 ALG3 Eleanor Williams Added phenotypes Congenital disorder of glycosylation, type Id 601110 for gene: ALG3
Skeletal dysplasia v1.153 SEC24D Eleanor Williams Added phenotypes Osteogenesis Imperfecta, Cole Carpenter syndrome; Cole-Carpenter syndrome; SYNDROMIC OSTEOGENESIS IMPERFECTA for gene: SEC24D
Skeletal dysplasia v1.153 P4HB Eleanor Williams Added phenotypes Cole-Carpenter syndrome 1 112240 for gene: P4HB
Publications for gene P4HB were changed from 25683117 to 29384951; 30063094; 25683117
Skeletal dysplasia v1.153 ENPP1 Eleanor Williams Added phenotypes Hypophosphatemic rickets, autosomal recessive, 2 613312; Cole disease 615522 for gene: ENPP1
Skeletal dysplasia v1.153 EED Eleanor Williams Added phenotypes Cohen-Gibson syndrome 617561 for gene: EED
Publications for gene EED were changed from 25787343; 27193220; 27868325; 28229514 to 25787343; 27193220; 27868325; 28229514
Skeletal dysplasia v1.153 ARID1B Eleanor Williams Added phenotypes Coffin-Siris syndrome type 1 - 135900 for gene: ARID1B
Skeletal dysplasia v1.153 LONP1 Eleanor Williams Added phenotypes CODAS (Cerebral, Ocular, Dental, Auricular and Skeletal anomalies) syndrome 600373 for gene: LONP1
Skeletal dysplasia v1.153 RPGRIP1L Eleanor Williams Added phenotypes COACH syndrome 216360; Meckel syndrome 5 611561; Joubert syndrome 7 611560 for gene: RPGRIP1L
Skeletal dysplasia v1.153 TMEM67 Eleanor Williams Added phenotypes COACH syndrome 216360; Meckel syndrome 3 607361; Joubert syndrome 6 610688; {Bardet-Biedl syndrome 14, modifier of} 615991 for gene: TMEM67
Skeletal dysplasia v1.153 PITX1 Eleanor Williams Added phenotypes Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800; Liebenberg syndrome 186550 for gene: PITX1
Publications for gene PITX1 were changed from 23587911; 23022097 to 30459804; 23022097; 23587911
Skeletal dysplasia v1.153 PIK3CA Eleanor Williams Added phenotypes CLOVES 612918 for gene: PIK3CA
Skeletal dysplasia v1.153 RUNX2 Eleanor Williams Added phenotypes Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510; Cleidocranial dysplasia, forme fruste, with brachydactyly 119600; Cleidocranial dysplasia, forme fruste, dental anomalies only 119600; Cleidocranial dysplasia 119600 for gene: RUNX2
Skeletal dysplasia v1.153 NLRP3 Eleanor Williams Added phenotypes Chronic infantile neurologic cutaneous articular syndrome (CINA) - 607115 for gene: NLRP3
Skeletal dysplasia v1.153 PTH1R Eleanor Williams Added phenotypes Failure of tooth eruption, primary 125350; Eiken syndrome 600002; Metaphyseal chondrodysplasia, Murk Jansen type 156400; Chondrodysplasia, Blomstrand type 215045 for gene: PTH1R
Skeletal dysplasia v1.153 IMPAD1 Eleanor Williams Added phenotypes Chondrodysplasia with joint dislocations, GPAPP type 614078 for gene: IMPAD1
Skeletal dysplasia v1.153 ANKH Eleanor Williams Added phenotypes Chondrocalcinosis 2 118600; Craniometaphyseal dysplasia 123000 for gene: ANKH
Skeletal dysplasia v1.153 SH3BP2 Eleanor Williams Added phenotypes Cherubism 118400 for gene: SH3BP2
Skeletal dysplasia v1.153 SNRPB Eleanor Williams Added phenotypes Cerebrocostomandibular syndrome 117650 for gene: SNRPB
Skeletal dysplasia v1.153 LRP4 Eleanor Williams Added phenotypes Sclerosteosis 2 614305; Cenani-Lenz syndactyly syndrome 212780 for gene: LRP4
Skeletal dysplasia v1.153 EBP Eleanor Williams Added phenotypes MEND syndrome-300960 XLR.; CDPXLD; Chondrodysplasia punctata, X-linked dominant, 302960 for gene: EBP
Skeletal dysplasia v1.153 ARSE Eleanor Williams Added phenotypes CDPXL; Chondrodysplasia punctata, X-linked recessive, 302950; CHONDRODYSPLASIA PUNCTATA 1, X-LINKED; X-linked recessive chondrodysplasia punctata for gene: ARSE
Skeletal dysplasia v1.153 TGDS Eleanor Williams Added phenotypes Catel-Manzke syndrome 616145 for gene: TGDS
Skeletal dysplasia v1.153 RAB23 Eleanor Williams Added phenotypes Carpenter syndrome 201000 for gene: RAB23
Skeletal dysplasia v1.153 MEGF8 Eleanor Williams Added phenotypes Carpenter syndrome 2 614976 for gene: MEGF8
Skeletal dysplasia v1.153 TGFB1 Eleanor Williams Added phenotypes Camurati-Engelmann disease 131300 for gene: TGFB1
Skeletal dysplasia v1.153 COL1A1 Eleanor Williams Added phenotypes Osteogenesis imperfecta, type I 166200; Caffey disease 114000; Osteogenesis imperfecta, type III 259420; Osteogenesis imperfecta, type II 166210; Ehlers-Danlos syndrome, type VIIA 130060; Ehlers-Danlos syndrome, classic 130000; Osteogenesis imperfecta, type IV 166220 for gene: COL1A1
Skeletal dysplasia v1.153 CD96 Eleanor Williams Added phenotypes C-syndrome 217750 (opitz trigonocephaly) for gene: CD96
Skeletal dysplasia v1.153 LEMD3 Eleanor Williams Added phenotypes Melorheostosis with osteopoikilosis 155950 IC; Osteopoikilosis 166700; Buschke-Ollendorff syndrome 166700 for gene: LEMD3
Skeletal dysplasia v1.153 FKBP10 Eleanor Williams Added phenotypes Brucks syndrome 1 - 259450; Osteogenesis imperfecta, type XI, 610968 for gene: FKBP10
Skeletal dysplasia v1.153 PLOD2 Eleanor Williams Added phenotypes Bruck syndrome 2 609220 for gene: PLOD2
Skeletal dysplasia v1.153 TRPV4 Eleanor Williams Added phenotypes Brachyolmia type 3 113500; Hereditary motor and sensory neuropathy, type IIc 606071; Digital arthropathy-brachydactyly, familial 606835; SED, Maroteaux type 184095; Parastremmatic dwarfism 168400; Metatropic dysplasia 156530; Scapuloperoneal spinal muscular atrophy 181405; Spinal muscular atrophy, distal, congenital nonprogressive 600175; Spondylometaphyseal dysplasia, Kozlowski type 184252 for gene: TRPV4
Skeletal dysplasia v1.153 PAPSS2 Eleanor Williams Added phenotypes Brachyolmia 4 with mild epiphyseal and metaphyseal changes 612847 for gene: PAPSS2
Skeletal dysplasia v1.153 PTHLH Eleanor Williams Added phenotypes Brachydactyly, type E2 613382 for gene: PTHLH
Skeletal dysplasia v1.153 NOG Eleanor Williams Added phenotypes Symphalangism, proximal, 1A 185800; Brachydactyly, type B2 611377; Tarsal-carpal coalition syndrome 186570; Stapes ankylosis with broad thumb and toes 184460; Multiple synostoses syndrome 1 186500 for gene: NOG
Skeletal dysplasia v1.153 ROR2 Eleanor Williams Added phenotypes Brachydactyly, type B1 113000; Robinow syndrome, autosomal recessive 268310 for gene: ROR2
Skeletal dysplasia v1.153 BMP2 Eleanor Williams Added phenotypes short stature, facial dysmorphism and skeletal anomalies with or without cardiac aomalies 617877.; Brachydactyly, type A2 112600; {HFE hemochromatosis, modifier of} 235200 for gene: BMP2
Skeletal dysplasia v1.153 HOXD13 Eleanor Williams Added phenotypes Syndactyly, type V 186300; Brachydactyly-syndactyly syndrome 610713; Brachydactyly, type E 113300; Synpolydactyly 1 186000; Brachydactyly, type D 113200 for gene: HOXD13
Skeletal dysplasia v1.153 PLS3 Eleanor Williams Added phenotypes Bone mineral density QTL18, osteoporosis 300910 for gene: PLS3
Skeletal dysplasia v1.153 ASXL1 Eleanor Williams Added phenotypes Bohring-Opitz syndrome 605039 for gene: ASXL1
Skeletal dysplasia v1.153 RASGRP2 Eleanor Williams Added phenotypes Bleeding disorder, platelet-type, 18 615888 for gene: RASGRP2
Publications for gene RASGRP2 were changed from 18709451; 24958846 to 24958846; 18709451
Skeletal dysplasia v1.153 UFSP2 Eleanor Williams Added phenotypes Beukes Hip Dysplasia 142669, Spondyloepimetaphyseal dysplasia, Di Rocco type 617974 for gene: UFSP2
Publications for gene UFSP2 were changed from to 28892125; 26428751
Skeletal dysplasia v1.153 MANBA Eleanor Williams Added phenotypes Beta-mannosidosis, 248510 for gene: MANBA
Skeletal dysplasia v1.153 CEP290 Eleanor Williams Added phenotypes Meckel syndrome 4 611134; Senior-Loken syndrome 6 610189; Joubert syndrome 5 610188; Bardet-Biedl syndrome 14 615991; Leber congenital amaurosis 10 for gene: CEP290
Skeletal dysplasia v1.153 MKS1 Eleanor Williams Added phenotypes Meckel syndrome 1 249000; Bardet-Biedl syndrome 13 615990 for gene: MKS1
Skeletal dysplasia v1.153 RECQL4 Eleanor Williams Added phenotypes RAPILINO syndrome 266280; Rothmund-Thomson syndrome 268400; Baller-Gerold syndrome 218600 for gene: RECQL4
Skeletal dysplasia v1.153 FZD2 Eleanor Williams Added phenotypes Autosomal dominant omodysplasia type 2 164745 for gene: FZD2
Publications for gene FZD2 were changed from 25759469 to 29230162; 30455931; 29383834; 29383830; 25759469
Skeletal dysplasia v1.153 HNRNPK Eleanor Williams Added phenotypes Au-Kline syndrome:616580; Orphanet:453499 for gene: HNRNPK
Publications for gene HNRNPK were changed from 26173930; 26954065; 26638989 to 26173930; 26638989; 26954065
Skeletal dysplasia v1.153 FLNB Eleanor Williams Added phenotypes Spondylocarpotarsal synostosis syndrome 272460; Atelosteogenesis, type III 108721; Boomerang dysplasia 112310; Atelosteogenesis, type I 108720; Larsen syndrome 150250 for gene: FLNB
Skeletal dysplasia v1.153 AGA Eleanor Williams Added phenotypes Aspartylglucosaminuria 208400 (Patients may be tall for their age, but lack of a growth spurt in puberty typically causes adults to be short) for gene: AGA
Skeletal dysplasia v1.153 WISP3 Eleanor Williams Added phenotypes Arthropathy, progressive pseudorheumatoid, of childhood 208230; Spondyloepiphyseal dysplasia tarda with progressive arthropathy 208230 for gene: WISP3
Skeletal dysplasia v1.153 FGFR2 Eleanor Williams Added phenotypes Beare-Stevenson cutis gyrata syndrome 123790; Craniosynostosis, nonspecific Crouzon syndrome 123500; Craniofacial-skeletal-dermatologic dysplasia 101600; Pfeiffer syndrome 101600; Gastric cancer, somatic 613659; Jackson-Weiss syndrome 123150; LADD syndrome 149730; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Apert syndrome 101200; Bent bone dysplasia syndrome 614592 for gene: FGFR2
Skeletal dysplasia v1.153 POR Eleanor Williams Added phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571 for gene: POR
Skeletal dysplasia v1.153 RMRP Eleanor Williams Added phenotypes Cartilage-hair hypoplasia 250250; Anauxetic dysplasia 607095; Metaphyseal dysplasia without hypotrichosis 250460 for gene: RMRP
Skeletal dysplasia v1.153 POP1 Eleanor Williams Added phenotypes Anauxetic dysplasia 2, 617396 for gene: POP1
Publications for gene POP1 were changed from 21455487; 27380734; 28067412 to 28067412; 21455487; 27380734
Skeletal dysplasia v1.153 DLX3 Eleanor Williams Added phenotypes Amelogenesis imperfecta, type IV 104510; Trichodontoosseous syndrome 190320 for gene: DLX3
Publications for gene DLX3 were changed from 26762616; 26104267 to 26104267; 26762616
Skeletal dysplasia v1.153 HDAC4 Eleanor Williams Added phenotypes Albright hereditary osteodystrophy type 3; Brachydactyly-intellectual disability; Albright hereditary osteodystrophy-like syndrome; Del(2)(q37) 600430 for gene: HDAC4
Publications for gene HDAC4 were changed from 20691407; 15521982; 19365831 to 19365831; 15521982; 20691407; 25402011
Skeletal dysplasia v1.153 NOTCH2 Eleanor Williams Added phenotypes Hajdu-Cheney (Serpentine fibula polycystic kidney) syndrome 102500; Alagille syndrome 2 610205 for gene: NOTCH2
Skeletal dysplasia v1.153 DLL4 Eleanor Williams Added phenotypes Adams-Oliver syndrome 6, 616589 for gene: DLL4
Skeletal dysplasia v1.153 NOTCH1 Eleanor Williams Added phenotypes Limb, scalp and skull defects; AOS; Combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly); Adams-Oliver syndrome 5, 616028 for gene: NOTCH1
Publications for gene NOTCH1 were changed from 25132448; 25963545; 27077170; 25132448 to 25963545; 25132448; 27077170
Skeletal dysplasia v1.153 RBPJ Eleanor Williams Added phenotypes Adams-Oliver syndrome 3, 614814 for gene: RBPJ
Publications for gene RBPJ were changed from 22883147; 28160419 to 28160419; 22883147
Skeletal dysplasia v1.153 DOCK6 Eleanor Williams Added phenotypes Adams-Oliver syndrome 2 614219 for gene: DOCK6
Skeletal dysplasia v1.153 ARHGAP31 Eleanor Williams Added phenotypes Adams-Oliver syndrome 1 100300 for gene: ARHGAP31
Publications for gene ARHGAP31 were changed from 21565291; 29924900 to 29924900; 21565291
Skeletal dysplasia v1.153 EOGT Eleanor Williams Added phenotypes Adams Oliver syndrome 4 for gene: EOGT
Skeletal dysplasia v1.153 FBN1 Eleanor Williams Added phenotypes Geleophysic dysplasia 2 614185; Stiff skin syndrome 184900; Marfan syndrome 154700; Acromicric dysplasia 102370; Weill-Marchesani syndrome 2, dominant 608328 for gene: FBN1
Skeletal dysplasia v1.153 NPR2 Eleanor Williams Added phenotypes Acromesomelic dysplasia, Maroteaux type 602875; Short stature with nonspecific skeletal abnormalities 616255; Epiphyseal chondrodysplasia, Miura type 615923 for gene: NPR2
Skeletal dysplasia v1.153 GDF5 Eleanor Williams Added phenotypes Brachydactyly, type C 113100; Acromesomelic dysplasia, Hunter-Thompson type 201250; Du Pan syndrome 228900; {Osteoarthritis-5} 612400; Chondrodysplasia, Grebe type 200700; Brachydactyly, type A2 112600; Brachydactyly, type A1, C 615072; Symphalangism, proximal, 1B 615298; Multiple synostoses syndrome 2 610017 for gene: GDF5
Skeletal dysplasia v1.153 BMPR1B Eleanor Williams Added phenotypes Brachydactyly, type A1, D 616849; Brachydactyly, type A2 112600; Acromesomelic dysplasia, Demirhan type 609441 for gene: BMPR1B
Skeletal dysplasia v1.153 POLR1A Eleanor Williams Added phenotypes Acrofacial dysostosis, Cincinnati type 616462 for gene: POLR1A
Skeletal dysplasia v1.153 SF3B4 Eleanor Williams Added phenotypes Acrofacial dysostosis 1, Nager type 154400 for gene: SF3B4
Skeletal dysplasia v1.153 PDE4D Eleanor Williams Added phenotypes Acrodysostosis 2, with or without hormone resistance 614613 for gene: PDE4D
Skeletal dysplasia v1.153 PRKAR1A Eleanor Williams Added phenotypes Acrodysostosis 1, with or without hormone resistance 101800 for gene: PRKAR1A
Skeletal dysplasia v1.153 IHH Eleanor Williams Added phenotypes Acrocapitofemoral dysplasia 607778; Brachydactyly, type A1 112500 for gene: IHH
Skeletal dysplasia v1.153 KIF7 Eleanor Williams Added phenotypes Joubert syndrome 12 200990; Acrocallosal syndrome 200990 for gene: KIF7
Skeletal dysplasia v1.153 FGFR3 Eleanor Williams Added phenotypes Thanatophoric dysplasia, type I 187600; Muenke syndrome 602849; CATSHL syndrome 610474; SADDAN 616482; Thanatophoric dysplasia, type II 187601; Achondroplasia 100800; LADD syndrome 149730; Hypochondroplasia 146000; Crouzon syndrome with acanthosis nigricans 612247 for gene: FGFR3
Skeletal dysplasia v1.153 COL2A1 Eleanor Williams Added phenotypes Epiphyseal dysplasia, multiple, with myopia and deafness 132450; Spondyloepiphyseal dysplasia, Stanescu type 616583; Stickler sydrome, type I, nonsyndromic ocular 609508; Achondrogenesis, type II or hypochondrogenesis 200610; Kniest dysplasia 156550; Legg-Calve-Perthes disease 150600; Otospondylomegaepiphyseal dysplasia 215150; Stickler syndrome, type I 108300; SMED Strudwick type 184250; Spondyloperipheral dysplasia 271700; Platyspondylic skeletal dysplasia, Torrance type 151210; Czech dysplasia 609162; SED congenita 183900; Osteoarthritis with mild chondrodysplasia 604864; Avascular necrosis of the femoral head 608805 for gene: COL2A1
Skeletal dysplasia v1.153 TRIP11 Eleanor Williams Added phenotypes Achondrogenesis, type IA 200600 for gene: TRIP11
Skeletal dysplasia v1.153 LMBR1 Eleanor Williams Added phenotypes Laurin-Sandrow syndrome 135750; Polydactyly, preaxial type II 174500; Hypoplastic or aplastic tibia with polydactyly 188740; Triphalangeal thumb, type I 174500; Triphalangeal thumb-polysyndactyly syndrome 174500; Syndactyly, type IV 186200; Acheiropody 200500 for gene: LMBR1
Publications for gene LMBR1 were changed from to 26749485; 11090342
Skeletal dysplasia v1.153 SLC26A2 Eleanor Williams Added phenotypes ACG1B,DD,rMED; multiple epiphyseal dysplasia; Multiple Epiphyseal Dysplasia, Recessive; Epiphyseal dysplasia, multiple, 4 for gene: SLC26A2
Skeletal dysplasia v1.153 SOX9 Eleanor Williams Added phenotypes Campomelic dysplasia with autosomal sex reversal 114290; Acampomelic campomelic dysplasia 114290; Campomelic dysplasia 114290 for gene: SOX9
Skeletal dysplasia v1.153 TWIST2 Eleanor Williams Added phenotypes Ablepharon-macrostomia syndrome 200110; Barber-Say syndrome 209885 for gene: TWIST2
Skeletal dysplasia v1.153 COLEC10 Eleanor Williams Added phenotypes 3MC syndrome 3 -248340 for gene: COLEC10
Publications for gene COLEC10 were changed from to 28301481
Skeletal dysplasia v1.153 COLEC11 Eleanor Williams Added phenotypes 3MC syndrome 2 265050 for gene: COLEC11
Publications for gene COLEC11 were changed from 21258343; 8933348; 2569826 to 21258343; 2569826; 8933348; 28301481
Skeletal dysplasia v1.153 MASP1 Eleanor Williams Added phenotypes 3MC syndrome 1 - 257920 for gene: MASP1
Skeletal dysplasia v1.153 CCDC8 Eleanor Williams Added phenotypes 3-M syndrome 3, 614205 for gene: CCDC8
Skeletal dysplasia v1.153 OBSL1 Eleanor Williams Added phenotypes 3-M syndrome 2 612921 for gene: OBSL1
Skeletal dysplasia v1.153 CUL7 Eleanor Williams Added phenotypes 3-M syndrome 1 273750 for gene: CUL7
Skeletal dysplasia v1.153 FGF9 Eleanor Williams Added phenotypes ?Multiple synostoses syndrome type 3 612961 for gene: FGF9
Skeletal dysplasia v1.153 IFT81 Eleanor Williams Added phenotypes Short-rib thoracic dysplasia 19 with or without polydactyly -617895 for gene: IFT81
Publications for gene IFT81 were changed from 26275418; 28460050; 27666822 to 27666822; 26275418; 28460050
Skeletal dysplasia v1.153 AGPS Eleanor Williams Added phenotypes Rhizomelic chondrodysplasia punctata, type 3 600121 for gene: AGPS
Skeletal dysplasia v1.153 YY1 Eleanor Williams Added phenotypes Gabriele-de Vries syndrome 617557 for gene: YY1
Skeletal dysplasia v1.153 TMEM38B Eleanor Williams Added phenotypes Osteogenesis imperfecta, type XIV 615066; Osteogenesis imperfecta, type XIV, 615066; osteogenesis imperfecta for gene: TMEM38B
Skeletal dysplasia v1.152 TMCO1 Tracy Lester edited their review of gene: TMCO1: Changed rating: GREEN
Skeletal dysplasia v1.152 THPO Tracy Lester edited their review of gene: THPO: Changed rating: RED
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.68 ISCA-37420-Loss Eleanor Williams Classified Region: ISCA-37420-Loss as Amber List (moderate evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.68 ISCA-37420-Loss Eleanor Williams Added comment: Comment on list classification: Upgrading from red to amber as some evidence of association of the CNV loss with craniosynostosis. Will discuss on Webex with GMS Musculoskeletal test group
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.68 ISCA-37420-Loss Eleanor Williams Region: isca-37420-loss has been classified as Amber List (Moderate Evidence).
Common craniosynostosis syndromes v0.12 FGFR3 Eleanor Williams Added comment: Comment on mode of pathogenicity: See review by Tracy Lester on Craniosynostosis panel - specific GOF variants in ex7 & 10 only
Common craniosynostosis syndromes v0.12 FGFR3 Eleanor Williams Mode of pathogenicity for gene: FGFR3 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Common craniosynostosis syndromes v0.11 FGFR2 Eleanor Williams Added comment: Comment on mode of pathogenicity: See review by Andrew Wilkie on Craniosynostosis panel - Gain-of-function missense mutations are associated with a range of classical craniosynostosis phenotypes
Common craniosynostosis syndromes v0.11 FGFR2 Eleanor Williams Mode of pathogenicity for gene: FGFR2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Common craniosynostosis syndromes v0.10 EFNB1 Eleanor Williams Added comment: Comment on mode of pathogenicity: See review by Andrew Wilkie on Craniosynostosis panel - rare example of cellular interference
Common craniosynostosis syndromes v0.10 EFNB1 Eleanor Williams Mode of pathogenicity for gene: EFNB1 was changed from to Other
Common craniosynostosis syndromes v0.9 FGFR1 Eleanor Williams Added comment: Comment on mode of pathogenicity: From reviews on the Craniosynostosis panel - a very limited number of gain of function mutations are associated with craniosynostosis
Common craniosynostosis syndromes v0.9 FGFR1 Eleanor Williams Mode of pathogenicity for gene: FGFR1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Common craniosynostosis syndromes v0.8 FGFR3 Eleanor Williams Added comment: Comment on phenotypes: Added phenotypes from OMIM after consultation with Genomics England Rare Disease clinical team
Common craniosynostosis syndromes v0.8 FGFR3 Eleanor Williams Phenotypes for gene: FGFR3 were changed from to Muenke syndrome 602849; Crouzon syndrome with acanthosis nigricans 612247; Thanatophoric dysplasia, type I 187600; Thanatophoric dysplasia, type II 187601
Common craniosynostosis syndromes v0.7 FGFR2 Eleanor Williams Added comment: Comment on phenotypes: Added phenotypes from OMIM after consultation with Genomics England Rare Disease clinical team
Common craniosynostosis syndromes v0.7 FGFR2 Eleanor Williams Phenotypes for gene: FGFR2 were changed from Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Apert syndrome 101200; Beare-Stevenson cutis gyrata syndrome 123790; Pfeiffer syndrome 101600; Craniofacial-skeletal-dermatologic dysplasia 101600; Crouzon syndrome 123500; Jackson-Weiss syndrome 123150; Saethre-Chotzen syndrome 101400; Scaphocephaly, maxillary retrusion, and mental retardation 609579 to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Apert syndrome 101200; Beare-Stevenson cutis gyrata syndrome 123790; Pfeiffer syndrome 101600; Craniofacial-skeletal-dermatologic dysplasia 101600; Crouzon syndrome 123500; Jackson-Weiss syndrome 123150; Saethre-Chotzen syndrome 101400; Scaphocephaly, maxillary retrusion, and mental retardation 609579
Common craniosynostosis syndromes v0.6 FGFR2 Eleanor Williams Added comment: Comment on phenotypes: Added phenotypes from OMIM after consultation with Genomics England Rare Disease clinical team
Common craniosynostosis syndromes v0.6 FGFR2 Eleanor Williams Phenotypes for gene: FGFR2 were changed from to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Apert syndrome 101200; Beare-Stevenson cutis gyrata syndrome 123790; Pfeiffer syndrome 101600; Craniofacial-skeletal-dermatologic dysplasia 101600; Crouzon syndrome 123500; Jackson-Weiss syndrome 123150; Saethre-Chotzen syndrome 101400; Scaphocephaly, maxillary retrusion, and mental retardation 609579
Rare anaemia v0.35 ABCG8 Louise Daugherty Source London South GLH was added to ABCG8.
Rare anaemia v0.35 ABCG5 Louise Daugherty Source London South GLH was added to ABCG5.
Iron metabolism disorders - NOT common HFE mutations v0.34 CYBRD1 Louise Daugherty Source London South GLH was added to CYBRD1.
Iron metabolism disorders - NOT common HFE mutations v0.34 ALAS2 Louise Daugherty Source London South GLH was added to ALAS2.
Iron metabolism disorders - NOT common HFE mutations v0.34 GLRX5 Louise Daugherty Source London South GLH was added to GLRX5.
Iron metabolism disorders - NOT common HFE mutations v0.34 SLC25A38 Louise Daugherty Source London South GLH was added to SLC25A38.
Cytopenia - NOT Fanconi anaemia v0.53 RPS29 Louise Daugherty Source London South GLH was added to RPS29.
Cytopenia - NOT Fanconi anaemia v0.53 RPS26 Louise Daugherty Source London South GLH was added to RPS26.
Cytopenia - NOT Fanconi anaemia v0.53 RPS24 Louise Daugherty Source London South GLH was added to RPS24.
Cytopenia - NOT Fanconi anaemia v0.53 RPS19 Louise Daugherty Source London South GLH was added to RPS19.
Cytopenia - NOT Fanconi anaemia v0.53 RPS7 Louise Daugherty Source London South GLH was added to RPS7.
Cytopenia - NOT Fanconi anaemia v0.53 RPL35A Louise Daugherty Source London South GLH was added to RPL35A.
Cytopenia - NOT Fanconi anaemia v0.53 RPL27 Louise Daugherty Source London South GLH was added to RPL27.
Cytopenia - NOT Fanconi anaemia v0.53 RPL26 Louise Daugherty Source London South GLH was added to RPL26.
Cytopenia - NOT Fanconi anaemia v0.53 RPL15 Louise Daugherty Source London South GLH was added to RPL15.
Cytopenia - NOT Fanconi anaemia v0.53 RPL11 Louise Daugherty Source London South GLH was added to RPL11.
Cytopenia - NOT Fanconi anaemia v0.53 RPS10 Louise Daugherty Source London South GLH was added to RPS10.
Cytopenia - NOT Fanconi anaemia v0.53 RPL9 Louise Daugherty Source London South GLH was added to RPL9.
Cytopenia - NOT Fanconi anaemia v0.53 RPL5 Louise Daugherty Source London South GLH was added to RPL5.
Cytopenia - NOT Fanconi anaemia v0.53 GATA1 Louise Daugherty Source London South GLH was added to GATA1.
Cytopenia - NOT Fanconi anaemia v0.53 CYCS Louise Daugherty Source London South GLH was added to CYCS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v0.53 RPS17 Louise Daugherty Source London South GLH was added to RPS17.
Cytopenia - NOT Fanconi anaemia v0.53 RPL31 Louise Daugherty Source London South GLH was added to RPL31.
Cytopenia - NOT Fanconi anaemia v0.53 FYB1 Louise Daugherty Source London South GLH was added to FYB1.
Rare anaemia v0.34 ABCG8 Louise Daugherty commented on gene: ABCG8: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Rare anaemia v0.34 ABCG5 Louise Daugherty commented on gene: ABCG5: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Rare anaemia v0.34 RPL27 Louise Daugherty commented on gene: RPL27: Review/rating updated by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) from initial review February 2019, on behalf of London South GLH for the GMS Haematology specialist test group. Gene rating upgraded from Red to Green.
Rare anaemia v0.34 RPL26 Louise Daugherty commented on gene: RPL26: Review/rating updated by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) from initial review February 2019, on behalf of London South GLH for the GMS Haematology specialist test group. Gene rating upgraded from Red to Green.
Rare anaemia v0.34 RPL15 Louise Daugherty commented on gene: RPL15: Review/rating updated by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) from initial review February 2019, on behalf of London South GLH for the GMS Haematology specialist test group. Gene rating upgraded from Red to Green.
Rare anaemia v0.34 RPL9 Louise Daugherty commented on gene: RPL9: Review/rating updated by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) from initial review February 2019, on behalf of London South GLH for the GMS Haematology specialist test group. Gene rating upgraded from Red to Green.
Iron metabolism disorders - NOT common HFE mutations v0.33 CYBRD1 Louise Daugherty commented on gene: CYBRD1: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Iron metabolism disorders - NOT common HFE mutations v0.33 ALAS2 Louise Daugherty commented on gene: ALAS2: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Iron metabolism disorders - NOT common HFE mutations v0.33 GLRX5 Louise Daugherty commented on gene: GLRX5: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Iron metabolism disorders - NOT common HFE mutations v0.33 SLC25A38 Louise Daugherty commented on gene: SLC25A38: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Iron metabolism disorders - NOT common HFE mutations v0.33 BMP6 Louise Daugherty commented on gene: BMP6: Review/rating updated by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) from initial review February 2019, on behalf of London South GLH for the GMS Haematology specialist test group. Gene rating upgraded from Red to Green.
Cytopenia - NOT Fanconi anaemia v0.52 RPS29 Louise Daugherty commented on gene: RPS29: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Cytopenia - NOT Fanconi anaemia v0.52 RPS26 Louise Daugherty commented on gene: RPS26: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Cytopenia - NOT Fanconi anaemia v0.52 RPS24 Louise Daugherty commented on gene: RPS24: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Cytopenia - NOT Fanconi anaemia v0.52 RPS19 Louise Daugherty commented on gene: RPS19: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Cytopenia - NOT Fanconi anaemia v0.52 RPS7 Louise Daugherty commented on gene: RPS7: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Cytopenia - NOT Fanconi anaemia v0.52 RPL35A Louise Daugherty commented on gene: RPL35A: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Cytopenia - NOT Fanconi anaemia v0.52 RPL27 Louise Daugherty commented on gene: RPL27: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Cytopenia - NOT Fanconi anaemia v0.52 RPL26 Louise Daugherty commented on gene: RPL26: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Cytopenia - NOT Fanconi anaemia v0.52 RPL15 Louise Daugherty commented on gene: RPL15: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Cytopenia - NOT Fanconi anaemia v0.52 RPL11 Louise Daugherty commented on gene: RPL11: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Cytopenia - NOT Fanconi anaemia v0.52 RPS10 Louise Daugherty commented on gene: RPS10: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Cytopenia - NOT Fanconi anaemia v0.52 RPL9 Louise Daugherty commented on gene: RPL9: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Cytopenia - NOT Fanconi anaemia v0.52 RPL5 Louise Daugherty commented on gene: RPL5: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Cytopenia - NOT Fanconi anaemia v0.52 GATA1 Louise Daugherty commented on gene: GATA1: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Cytopenia - NOT Fanconi anaemia v0.52 CYCS Louise Daugherty commented on gene: CYCS: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Cytopenia - NOT Fanconi anaemia v0.52 RPS17 Louise Daugherty commented on gene: RPS17: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Cytopenia - NOT Fanconi anaemia v0.52 RPL31 Louise Daugherty commented on gene: RPL31: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Cytopenia - NOT Fanconi anaemia v0.52 SAMD9L Louise Daugherty commented on gene: SAMD9L: Review/rating updated by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) from initial review February 2019, on behalf of London South GLH for the GMS Haematology specialist test group. Gene rating upgraded from Red to Green.
Cytopenia - NOT Fanconi anaemia v0.52 SAMD9 Louise Daugherty commented on gene: SAMD9: Review/rating updated by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) from initial review February 2019, on behalf of London South GLH for the GMS Haematology specialist test group. Gene rating upgraded from Red to Green.
Cytopenia - NOT Fanconi anaemia v0.52 GFI1 Louise Daugherty commented on gene: GFI1: Review/rating updated by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) from initial review February 2019, on behalf of London South GLH for the GMS Haematology specialist test group. Gene rating upgraded from Red to Green.
Cytopenia - NOT Fanconi anaemia v0.52 FYB1 Louise Daugherty commented on gene: FYB1: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.
Rare anaemia v0.33 ABCG8 Frances Smith reviewed gene: ABCG8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.33 ABCG5 Frances Smith reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.33 RPL27 Frances Smith edited their review of gene: RPL27: Changed rating: GREEN
Rare anaemia v0.33 RPL26 Frances Smith edited their review of gene: RPL26: Changed rating: GREEN
Rare anaemia v0.33 RPL15 Frances Smith edited their review of gene: RPL15: Changed rating: GREEN
Rare anaemia v0.33 RPL9 Frances Smith edited their review of gene: RPL9: Changed rating: GREEN
Iron metabolism disorders - NOT common HFE mutations v0.32 CYBRD1 Frances Smith reviewed gene: CYBRD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.32 ALAS2 Frances Smith reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.32 GLRX5 Frances Smith reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.32 SLC25A38 Frances Smith reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Iron metabolism disorders - NOT common HFE mutations v0.32 BMP6 Frances Smith edited their review of gene: BMP6: Changed rating: GREEN
Cytopenia - NOT Fanconi anaemia v0.51 RPS29 Frances Smith reviewed gene: RPS29: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.51 RPS26 Frances Smith reviewed gene: RPS26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.51 RPS24 Frances Smith reviewed gene: RPS24: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.51 RPS19 Frances Smith reviewed gene: RPS19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.51 RPS7 Frances Smith reviewed gene: RPS7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.51 RPL35A Frances Smith reviewed gene: RPL35A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.51 RPL27 Frances Smith reviewed gene: RPL27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.51 RPL26 Frances Smith reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.51 RPL15 Frances Smith reviewed gene: RPL15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.51 RPL11 Frances Smith reviewed gene: RPL11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.51 RPS10 Frances Smith reviewed gene: RPS10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.51 RPL9 Frances Smith reviewed gene: RPL9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.51 RPL5 Frances Smith reviewed gene: RPL5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.51 GATA1 Frances Smith reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.51 CYCS Frances Smith reviewed gene: CYCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.51 RPS17 Frances Smith reviewed gene: RPS17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.51 RPL31 Frances Smith reviewed gene: RPL31: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.51 SAMD9L Frances Smith edited their review of gene: SAMD9L: Changed rating: GREEN
Cytopenia - NOT Fanconi anaemia v0.51 SAMD9 Frances Smith edited their review of gene: SAMD9: Changed rating: GREEN
Cytopenia - NOT Fanconi anaemia v0.51 GFI1 Frances Smith edited their review of gene: GFI1: Changed rating: GREEN
Cytopenia - NOT Fanconi anaemia v0.51 FYB1 Frances Smith reviewed gene: FYB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.50 RPL26 Louise Daugherty Phenotypes for gene: RPL26 were changed from ?Diamond-Blackfan anemia 11,614900 to ?Diamond-Blackfan anemia 11, 614900
Cytopenia - NOT Fanconi anaemia v0.49 RPL31 Louise Daugherty Phenotypes for gene: RPL31 were changed from to Diamond-Blackfan anaemia
Cytopenia - NOT Fanconi anaemia v0.48 RPS17 Louise Daugherty Publications for gene: RPS17 were set to 22045982; 19953637; 17647292; 19061985
Cytopenia - NOT Fanconi anaemia v0.47 CYCS Louise Daugherty Publications for gene: CYCS were set to
Cytopenia - NOT Fanconi anaemia v0.46 CYCS Louise Daugherty Phenotypes for gene: CYCS were changed from 612004 Thrombocytopenia 4 to 612004 Thrombocytopenia 4; Thrombocytopenia
Cytopenia - NOT Fanconi anaemia v0.45 GATA1 Louise Daugherty Publications for gene: GATA1 were set to 22706301; 24952648; 24766296; 10700180; 24453067
Cytopenia - NOT Fanconi anaemia v0.44 GATA1 Louise Daugherty Phenotypes for gene: GATA1 were changed from 314050 Thrombocytopenia with beta-thalassemia, X-linked; Diamond Blackfan Anaemia; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Myelodysplastic syndrome (MDS), Paediatric to 314050 Thrombocytopenia with beta-thalassemia, X-linked; Diamond Blackfan Anaemia; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835; Myelodysplastic syndrome (MDS), Paediatric; Anaemia; thrombocytopenia
Cytopenia - NOT Fanconi anaemia v0.43 RPL5 Louise Daugherty Phenotypes for gene: RPL5 were changed from Diamond-Blackfan anemia 6, 612561; DIAMOND-BLACKFAN ANEMIA 6; Diamond_Blackfan Anemia 6; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia to Diamond-Blackfan anemia 6, 612561; DIAMOND-BLACKFAN ANEMIA 6; Diamond Blackfan Anemia 6; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia
Cytopenia - NOT Fanconi anaemia v0.42 RPL9 Louise Daugherty Publications for gene: RPL9 were set to 23718193; 20116044
Cytopenia - NOT Fanconi anaemia v0.41 RPL11 Louise Daugherty Publications for gene: RPL11 were set to 19191325; 19061985
Cytopenia - NOT Fanconi anaemia v0.40 RPL15 Louise Daugherty Publications for gene: RPL15 were set to 23812780; 19438500
Cytopenia - NOT Fanconi anaemia v0.39 RPL35A Louise Daugherty Phenotypes for gene: RPL35A were changed from Diamond-Blackfan anemia 5, 612528; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 5; Inherited Bone Marrow Failure Syndromes; Diamond_Blackfan Anemia 5; Diamond Blackfan anemia to Diamond-Blackfan anemia 5, 612528; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 5; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan Anemia 5; Diamond Blackfan anemia
Cytopenia - NOT Fanconi anaemia v0.38 RPS24 Louise Daugherty Publications for gene: RPS24 were set to 17186470; 19689926; 19773262; 25946618; 8647458; 2210388
Cytopenia - NOT Fanconi anaemia v0.37 RPS26 Louise Daugherty Publications for gene: RPS26 were set to 24675553; 25946618; 24942156; 20116044
Cytopenia - NOT Fanconi anaemia v0.36 RPS26 Louise Daugherty Phenotypes for gene: RPS26 were changed from Inherited Bone Marrow Failure Syndromes; Diamond_Blackfan Anemia 10; Diamond-Blackfan anemia 10; Diamond-Blackfan Anemia; Diamond-Blackfan anemia 10, 613309; Diamond Blackfan anemia to Inherited Bone Marrow Failure Syndromes; Diamond-Blackfan anemia 10; Diamond-Blackfan Anemia; Diamond-Blackfan anemia 10, 613309; Diamond Blackfan anemia
Cytopenia - NOT Fanconi anaemia v0.35 RPS29 Louise Daugherty Publications for gene: RPS29 were set to
Cytopenia - NOT Fanconi anaemia v0.34 RPS29 Louise Daugherty Phenotypes for gene: RPS29 were changed from Diamond-Blackfan anemia 13, 615909 to Diamond-Blackfan anemia 13, 615909; Diamond-Blackfan anaemia
Cytopenia - NOT Fanconi anaemia v0.33 RPS29 Louise Daugherty Phenotypes for gene: RPS29 were changed from Diamond-Blackfan anemia 13 615909 to Diamond-Blackfan anemia 13, 615909
Iron metabolism disorders - NOT common HFE mutations v0.31 SLC25A38 Louise Daugherty Phenotypes for gene: SLC25A38 were changed from 205950 Anemia, sideroblastic, 2, pyridoxine-refractory to 205950 Anemia, sideroblastic, 2, pyridoxine-refractory; Sideroblastic anaemia - increased serum ferritin
Iron metabolism disorders - NOT common HFE mutations v0.30 GLRX5 Louise Daugherty Publications for gene: GLRX5 were set to 30401706; 24003969; 30098397
Iron metabolism disorders - NOT common HFE mutations v0.29 GLRX5 Louise Daugherty Phenotypes for gene: GLRX5 were changed from 616860 Anemia, sideroblastic, 3, pyridoxine-refractory to 616860 Anemia, sideroblastic, 3, pyridoxine-refractory; Sideroblastic anaemia - increased serum ferritin
Iron metabolism disorders - NOT common HFE mutations v0.28 ALAS2 Louise Daugherty Publications for gene: ALAS2 were set to 30401706; 24003969; 30098397
Iron metabolism disorders - NOT common HFE mutations v0.27 ALAS2 Louise Daugherty Phenotypes for gene: ALAS2 were changed from 300752 Protoporphyria, erythropoietic, X-linked; 300751 Anemia, sideroblastic, 1 to 300752 Protoporphyria, erythropoietic, X-linked; 300751 Anemia, sideroblastic, 1; Sideroblastic anaemia - increased serum ferritin
Iron metabolism disorders - NOT common HFE mutations v0.26 CYBRD1 Louise Daugherty Phenotypes for gene: CYBRD1 were changed from NA IRON OVERLOAD; N/A Primary iron overload to NA IRON OVERLOAD; N/A Primary iron overload; Iron overload
Rare anaemia v0.32 ABCG8 Louise Daugherty Mode of inheritance for gene: ABCG8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.31 ABCG5 Louise Daugherty Mode of inheritance for gene: ABCG5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.30 RPL27 Louise Daugherty Deleted their comment
Rare anaemia v0.30 RPL27 Louise Daugherty Added comment: Comment on phenotypes: Diamond-Blackfan anemia 16, 617408; Diamond-Blackfan anemia
Rare anaemia v0.30 RPL27 Louise Daugherty Phenotypes for gene: RPL27 were changed from Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 16, 617408; 617408 ?Diamond-Blackfan anemia 16 to Diamond-Blackfan anemia 16, 617408; Diamond-Blackfan anemia
Rare anaemia v0.29 RPL27 Louise Daugherty Mode of inheritance for gene: RPL27 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myopathy v1.149 COL6A3 Louise Daugherty Phenotypes for gene: COL6A3 were changed from Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090 to Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090
Arthrogryposis v2.41 DOK7 Louise Daugherty Phenotypes for gene: DOK7 were changed from Myasthenia, limb-girdle, familial, 254300Fetal akinesia deformation sequence, 208150 to Myasthenia, limb-girdle, familial, 254300; Fetal akinesia deformation sequence, 208150
Adult onset hereditary spastic paraplegia v0.52 BSCL2 Nick Beauchamp reviewed gene: BSCL2: Rating: AMBER; Mode of pathogenicity: None; Publications: 14981520, 17387721; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 BSCL2 Nick Beauchamp reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14981520, 17387721; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.52 B4GALNT1 Nick Beauchamp reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746551, 24283893; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 B4GALNT1 Nick Beauchamp reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746551, 24283893; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.52 ATP13A2 Nick Beauchamp reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28137957, 27217339, 27165006; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.73 ATP13A2 Nick Beauchamp reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28137957, 27217339, 27165006; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.52 ATL1 Nick Beauchamp reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11685207, 15517445; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 ATL1 Nick Beauchamp reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11685207, 15517445; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.52 ARG1 Nick Beauchamp reviewed gene: ARG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 2365823, 1463019, 23859858; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 ARG1 Nick Beauchamp reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.52 AP5Z1 Nick Beauchamp reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20613862, 24833714, 27606357; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 AP5Z1 Nick Beauchamp reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20613862, 24833714, 27606357; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.52 AP4S1 Nick Beauchamp reviewed gene: AP4S1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21620353, 27444738, 25552650; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 AP4S1 Nick Beauchamp reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620353, 27444738, 25552650; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 AP4M1 Nick Beauchamp reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19559397, 24700674, 29096665; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.52 AP4M1 Nick Beauchamp reviewed gene: AP4M1: Rating: AMBER; Mode of pathogenicity: None; Publications: 19559397, 24700674, 29096665; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 AP4E1 Nick Beauchamp reviewed gene: AP4E1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620353, 23472171; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.52 AP4E1 Nick Beauchamp reviewed gene: AP4E1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21620353, 23472171; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 AP4B1 Nick Beauchamp reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620353, 24700674; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.52 AP4B1 Nick Beauchamp reviewed gene: AP4B1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21620353, 24700674; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.52 AMPD2 Nick Beauchamp reviewed gene: AMPD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24482476, 27159321; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 AMPD2 Nick Beauchamp reviewed gene: AMPD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24482476, 27159321; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.52 ALS2 Nick Beauchamp reviewed gene: ALS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 12145748, 15247254, 27601211; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 ALS2 Nick Beauchamp reviewed gene: ALS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12145748, 15247254, 27601211; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.148 TPM2 Louise Daugherty Publications for gene: TPM2 were set to
Congenital myopathy v1.147 TPM2 Louise Daugherty Phenotypes for gene: TPM2 were changed from CAP myopathy 2 609285; Nemaline myopathy 4, autosomal dominant 609285 to CAP myopathy 2 609285; Nemaline myopathy 4, autosomal dominant 609285; Arthrogryposis multiplex congenita, distal, type1 108120: Arthrogryposis, distal, type 2B 601680
Adult onset hereditary spastic paraplegia v0.52 ALDH18A1 Nick Beauchamp reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26026163, 26297558; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 ALDH18A1 Nick Beauchamp reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26026163, 26297558; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.146 TTN Louise Daugherty Phenotypes for gene: TTN were changed from Myopathy, early-onset, with fatal cardiomyopathy 611705 to Myopathy, early-onset, with fatal cardiomyopathy, 611705
Congenital myopathy v1.145 CASQ1 Louise Daugherty Phenotypes for gene: CASQ1 were changed from Vacuolar myopathy with CASQ1 aggregates (VMCQA) to Vacuolar myopathy with CASQ1 aggregates (VMCQA); Myopathy, vacuolar, with CASQ1 aggregates, 616231
Congenital myopathy v1.144 CNTN1 Louise Daugherty Publications for gene: CNTN1 were set to 19026398; 22818856
Adult onset hereditary spastic paraplegia v0.52 AIMP1 Nick Beauchamp reviewed gene: AIMP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21092922, 30477741, 30486714; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.73 AIMP1 Nick Beauchamp reviewed gene: AIMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21092922, 30477741, 30486714; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v1.143 MYPN Louise Daugherty Phenotypes for gene: MYPN were changed from Congenital cap myopathy to Congenital cap myopathy; Nemaline myopathy, 617336
Congenital myopathy v1.142 MYPN Louise Daugherty Publications for gene: MYPN were set to 28220527
Congenital myopathy v1.141 VPS33B Louise Daugherty Phenotypes for gene: VPS33B were changed from vacuolar myopathy? to vacuolar myopathy; Arthrogryposis renal dysfunction, and cholestasis 1, 208085
Adult onset hereditary spastic paraplegia v0.52 AFG3L2 Nick Beauchamp reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.140 DOK7 Louise Daugherty Phenotypes for gene: DOK7 were changed from Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090 to Fetal akinesia deformation sequence, 208150; Myasthenic syndrome, congenital, 10, 254300
Congenital myopathy v1.139 ECEL1 Louise Daugherty Phenotypes for gene: ECEL1 were changed from Arthrogryposis, distal, type 5D 615065 to Arthrogryposis, distal, type 5D, 615065
Congenital myopathy v1.138 ECEL1 Louise Daugherty Phenotypes for gene: ECEL1 were changed from Arthrogryposis, distal, type 5D 615065; Myopathy, centronuclear, 160150; Charcot-Marie-Tooth disease, axonal, type 2M, 606482 to Arthrogryposis, distal, type 5D 615065
Congenital myopathy v1.137 ECEL1 Louise Daugherty Publications for gene: ECEL1 were set to 22396310
Congenital myopathy v1.136 KLHL9 Louise Daugherty Phenotypes for gene: KLHL9 were changed from Nemaline myopathy 8, autosomal recessive, 615348 to Nemaline myopathy
Congenital myopathy v1.135 MYBPC1 Louise Daugherty Phenotypes for gene: MYBPC1 were changed from Myopathy, Early-Onset, Areflexia, Respiratory Distress, and Dysphagia; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4 614915 to Arthrogryposis, distal, type 1B, 614335; Lethal congenital contracture syndrome 4, 614915
Congenital myopathy v1.134 MYBPC1 Louise Daugherty Publications for gene: MYBPC1 were set to 20045868; 22101682
Congenital myopathy v1.133 PIEZO2 Louise Daugherty Phenotypes for gene: PIEZO2 were changed from Arthrogryposis; KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM to Arthrogryposis, distal, type 3, 114300: Arthrogryposis, distal, type 5, 108145: Arthrogryposis, distal, with proprioception and touch, 617146
Congenital myopathy v1.132 PIEZO2 Louise Daugherty Publications for gene: PIEZO2 were set to 27879346; 27858739; 25748484
Congenital myopathy v1.131 SRPK3 Louise Daugherty Phenotypes for gene: SRPK3 were changed from Central core disease, 117000; Minicore myopathy with external ophthalmoplegia, 255320; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000; Malignant hyperthermia susceptibility 1, 145600 to Nemaline myopathy
Congenital myopathy v1.130 TNNC2 Louise Daugherty Phenotypes for gene: TNNC2 were changed from severe congenital myopathy with congenital bone fractures, 616866 to congenital myopathy
Congenital myopathy v1.129 TNNI2 Louise Daugherty Phenotypes for gene: TNNI2 were changed from Arthrogryposis multiplex congenita, distal, type 2B, 601680; Centronuclear myopathy 5, 615959 to Arthrogryposis multiplex congenita, distal, type 2B, 601680
Congenital myopathy v1.128 TNNT3 Louise Daugherty Phenotypes for gene: TNNT3 were changed from Arthyrogryposis, distal, type 2B, 601680; Myopathy, congenital, Baily-Bloch, 255995 to Arthyrogryposis, distal, type 2B, 601680
Congenital myopathy v1.127 TNNT3 Louise Daugherty Publications for gene: TNNT3 were set to 23736855; 28003463
Congenital myopathy v1.126 TRIP4 Louise Daugherty Phenotypes for gene: TRIP4 were changed from vacuolar myopathy? to severe congenital myopathy with congenital bone fractures, 616866
Congenital myopathy v1.125 TRIP4 Louise Daugherty Publications for gene: TRIP4 were set to 23315026
Congenital myopathy v1.124 ZC4H2 Louise Daugherty Phenotypes for gene: ZC4H2 were changed from CAP myopathy 2, 609285; Nemaline myopathy 4, autosomal dominant 609285; Arthrogryposis multiplex congenita, distal, type1, 108120; Arthrogryposis, distal, type 2B, 601680 to Wieacker-Wolff syndrome, 314580
Congenital myopathy v1.123 ZC4H2 Louise Daugherty Publications for gene: ZC4H2 were set to 12592607; 11738357; 17434307
Congenital myopathy v1.122 CCDC78 Louise Daugherty Publications for gene: CCDC78 were set to 22818856; 28012042
Congenital myopathy v1.121 CCDC78 Louise Daugherty Phenotypes for gene: CCDC78 were changed from Myopathy, centronuclear, 4, 614807; Hypokalemic periodic paralyisis type 1, 170400; congenital myopathy to Myopathy, centronuclear, 4, 614807
Congenital myopathy v1.120 ZC4H2 Rachael Mein edited their review of gene: ZC4H2: Changed publications: 23623388, 26056227; Changed phenotypes: Wieacker-Wolff syndrome 314580
Congenital myopathy v1.120 VPS33B Rachael Mein edited their review of gene: VPS33B: Changed publications: 15052268, 16896922; Changed phenotypes: Arthrogryposis renal dysfunction, and cholestasis 1 208085
Congenital myopathy v1.120 VMA21 Rachael Mein edited their review of gene: VMA21: Changed publications: 23315026; Changed phenotypes: vacuolar myopathy?
Congenital myopathy v1.120 TTN Rachael Mein edited their review of gene: TTN: Changed publications: 17444505, 23975875, 28295036; Changed phenotypes: Myopathy, early-onset, with fatal cardiomyopathy 611705
Congenital myopathy v1.120 TRIP4 Rachael Mein edited their review of gene: TRIP4: Changed publications: 26924529; Changed phenotypes: severe congenital myopathy with congenital bone fractures 616866
Congenital myopathy v1.120 TPM3 Rachael Mein edited their review of gene: TPM3: Changed rating: GREEN; Changed publications: 24692096; Changed phenotypes: CAP myopathy 1 609284, Myopathy, congenital, with fiber-type disproportion 255310, Nemaline myopathy 1, autosomal dominant or recessive 609284
Congenital myopathy v1.120 TPM2 Rachael Mein edited their review of gene: TPM2: Changed publications: 12592607, 11738357, 17434307; Changed phenotypes: CAP myopathy 2 609285, Nemaline myopathy 4, autosomal dominant 609285, Arthrogryposis multiplex congenita, distal, type1 108120: Arthrogryposis, distal, type 2B 601680
Congenital myopathy v1.120 TNNT3 Rachael Mein edited their review of gene: TNNT3: Changed publications: 12865991, 17194691; Changed phenotypes: Arthyrogryposis, distal, type 2B 601680
Congenital myopathy v1.120 TNNT1 Rachael Mein edited their review of gene: TNNT1: Changed publications: 26296490, 25430424; Changed phenotypes: nemaline myopathy, Nemaline Myopathy, Recessive, Nemaline myopathy 5, Amish type, 605355
Congenital myopathy v1.120 TNNI2 Rachael Mein edited their review of gene: TNNI2: Changed publications: 16924011, 16924011; Changed phenotypes: Arthrogryposis multiplex congenita, distal, type 2B 601680
Congenital myopathy v1.120 TNNC2 Rachael Mein edited their review of gene: TNNC2: Changed rating: AMBER; Changed phenotypes: congenital myopathy
Congenital myopathy v1.120 STIM1 Rachael Mein edited their review of gene: STIM1: Changed publications: 23332920; Changed phenotypes: Myopathy, tubular aggregate, 160565
Congenital myopathy v1.120 STAC3 Rachael Mein edited their review of gene: STAC3: Changed publications: 23736855, 28003463; Changed phenotypes: Myopathy, congenital, Baily-Bloch, 255995
Congenital myopathy v1.120 SRPK3 Rachael Mein edited their review of gene: SRPK3: Changed phenotypes: Nemaline myopathy
Congenital myopathy v1.120 SPEG Rachael Mein edited their review of gene: SPEG: Changed publications: 25087613; Changed phenotypes: Centronuclear myopathy 5 615959
Congenital myopathy v1.120 SELENON Rachael Mein edited their review of gene: SELENON: Changed publications: 26780752, 16365872; Changed phenotypes: Muscular dystrophy, rigid spine, 1 602771, Myopathy, congenital, with fiber-type disproportion 255310
Congenital myopathy v1.120 SCN4A Rachael Mein edited their review of gene: SCN4A: Changed publications: 26700687; Changed phenotypes: congenital myopathy
Congenital myopathy v1.120 RYR1 Rachael Mein edited their review of gene: RYR1: Changed publications: 26799446; Changed phenotypes: Central core disease 117000, Minicore myopathy with external ophthalmoplegia 255320, Neuromuscular disease, congenital, with uniform type 1 fiber 117000, Malignant hyperthermia susceptibility 1 145600
Congenital myopathy v1.120 PIEZO2 Rachael Mein edited their review of gene: PIEZO2: Changed publications: 23487782, 24726473; Changed phenotypes: Arthrogryposis, distal, type3 114300: Arthrogryposis, distal, type5 108145: Arthrogryposis, distal, with proprioception and touch 617146
Congenital myopathy v1.120 ORAI1 Rachael Mein edited their review of gene: ORAI1: Changed publications: 28058752, 25227914; Changed phenotypes: Myopathy, tubular aggregate, 2 615883
Congenital myopathy v1.120 NEB Rachael Mein edited their review of gene: NEB: Changed publications: 12207937; Changed phenotypes: nemaline myopathy, Nemaline Myopathy, Recessive, Nemaline myopathy 2, autosomal recessive, 256030
Congenital myopathy v1.120 MYPN Rachael Mein edited their review of gene: MYPN: Changed publications: 28017374; Changed phenotypes: Nemaline myopathy 617336
Congenital myopathy v1.120 MYO18B Rachael Mein edited their review of gene: MYO18B: Changed publications: 27879346, 27858739, 25748484; Changed phenotypes: KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM
Congenital myopathy v1.120 MYL1 Rachael Mein edited their review of gene: MYL1: Changed publications: 21063730; Changed phenotypes: congenital myopathy
Congenital myopathy v1.120 MYH8 Rachael Mein edited their review of gene: MYH8: Changed publications: 17041932; Changed phenotypes: Trismus-pseudocamptodactyly syndrome 158300
Congenital myopathy v1.120 MYH7 Rachael Mein edited their review of gene: MYH7: Changed publications: 15322983; Changed phenotypes: Laing Distal Myopathy 160500
Congenital myopathy v1.120 MYH3 Rachael Mein edited their review of gene: MYH3: Changed publications: 18695058, 26578207; Changed phenotypes: Arthrogryposis, distal, type 2A 193700, Arthrogryposis, distal, type 2B 601680, Arthrogryposis, distal, type 8 178110
Congenital myopathy v1.120 MYH2 Rachael Mein edited their review of gene: MYH2: Changed publications: 11114175, 23489661; Changed phenotypes: Proximal myopathy and ophthalmoplegia 605637
Congenital myopathy v1.120 MYBPC3 Rachael Mein edited their review of gene: MYBPC3: Changed publications: 19858127; Changed phenotypes: myopathy and cardiomyopathy
Congenital myopathy v1.120 MYBPC1 Rachael Mein edited their review of gene: MYBPC1: Changed publications: 20045868; Changed phenotypes: Arthrogryposis, distal, type 1B 614335, Lethal congenital contracture syndrome 4 614915
Congenital myopathy v1.120 MTMR14 Rachael Mein edited their review of gene: MTMR14: Changed publications: 19465920; Changed phenotypes: centronuclear myopathy
Congenital myopathy v1.120 MTM1 Rachael Mein edited their review of gene: MTM1: Changed publications: 8640223; Changed phenotypes: X-linked myotubular myopathy, Myotubular myopathy, X-linked, 310400
Congenital myopathy v1.120 MEGF10 Rachael Mein edited their review of gene: MEGF10: Changed publications: 22101682; Changed phenotypes: Myopathy, Early-Onset, Areflexia, Respiratory Distress, andDysphagia, Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399
Congenital myopathy v1.120 MAP3K20 Rachael Mein edited their review of gene: MAP3K20: Changed publications: 27816943; Changed phenotypes: Centronuclear myopathy 6 with fiber-type disproportion 617760
Congenital myopathy v1.120 LMOD3 Rachael Mein edited their review of gene: LMOD3: Changed publications: 25250574; Changed phenotypes: Nemaline myopathy 10 616165
Congenital myopathy v1.120 LAMP2 Rachael Mein edited their review of gene: LAMP2: Changed publications: 12084876, 21415759; Changed phenotypes: vacuolar myopathy?
Congenital myopathy v1.120 KLHL9 Rachael Mein edited their review of gene: KLHL9: Changed phenotypes: Nemaline myopathy
Congenital myopathy v1.120 KLHL41 Rachael Mein edited their review of gene: KLHL41: Changed publications: 24268659; Changed phenotypes: Nemaline myopathy 9, 615731 (3)
Congenital myopathy v1.120 KLHL40 Rachael Mein edited their review of gene: KLHL40: Changed publications: 23746549; Changed phenotypes: Nemaline myopathy 8, autosomal recessive, 615348
Congenital myopathy v1.120 KBTBD13 Rachael Mein edited their review of gene: KBTBD13: Changed publications: 21109227; Changed phenotypes: Nemaline Myopathy, Dominant, Nemaline myopathy 6, autosomal dominant, 609273
Congenital myopathy v1.120 HACD1 Rachael Mein edited their review of gene: HACD1: Changed publications: 23933735; Changed phenotypes: congenital myopathy
Congenital myopathy v1.120 EPG5 Rachael Mein edited their review of gene: EPG5: Changed publications: 23222957; Changed phenotypes: vacuolar myopathy?
Congenital myopathy v1.120 ECEL1 Rachael Mein edited their review of gene: ECEL1: Changed publications: 23261301; Changed phenotypes: Arthrogryposis, distal, type 5D 615065
Congenital myopathy v1.120 DOK7 Rachael Mein edited their review of gene: DOK7: Changed publications: 16917026; Changed phenotypes: Fetal akinesia deformation sequence 208150, Myasthenic syndrome, congenital, 10 254300
Congenital myopathy v1.120 DNM2 Rachael Mein edited their review of gene: DNM2: Changed publications: 22396310; Changed phenotypes: Myopathy, centronuclear, 160150, Charcot-Marie-Tooth disease, axonal, type 2M, 606482
Congenital myopathy v1.120 COL6A3 Rachael Mein edited their review of gene: COL6A3: Changed publications: 15689448; Changed phenotypes: Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090
Congenital myopathy v1.120 COL6A2 Rachael Mein edited their review of gene: COL6A2: Changed publications: 15689448; Changed phenotypes: Bethlem myopathy, 158810, Ullrich congenital muscular dystrophy, 254090
Congenital myopathy v1.120 COL6A1 Rachael Mein edited their review of gene: COL6A1: Changed publications: 25535305, 15955946, 23738969; Changed phenotypes: Bethlem myopathy, 158810, Ullrich congenital muscular dystrophy, 254090
Congenital myopathy v1.120 COL12A1 Rachael Mein edited their review of gene: COL12A1: Changed publications: 24334604; Changed phenotypes: EDS/myopathy overlap syndrome
Congenital myopathy v1.120 CNTN1 Rachael Mein edited their review of gene: CNTN1: Changed publications: 19026398; Changed phenotypes: ?Myopathy, congenital, Compton-North, 612540
Congenital myopathy v1.120 CFL2 Rachael Mein edited their review of gene: CFL2: Changed rating: GREEN; Changed publications: 22560515, 17160903, 24610938; Changed phenotypes: Nemaline myopathy 7, autosomal recessive, 610687, Nemaline Myopathy, Recessive
Congenital myopathy v1.120 CCDC78 Rachael Mein edited their review of gene: CCDC78: Changed publications: 22818856; Changed phenotypes: Myopathy, centronuclear, 4, 614807
Congenital myopathy v1.120 CASQ1 Rachael Mein edited their review of gene: CASQ1: Changed rating: AMBER; Changed publications: 25116801; Changed phenotypes: Myopathy, vacuolar, with CASQ1 aggregates 616231
Congenital myopathy v1.120 CACNA1S Rachael Mein edited their review of gene: CACNA1S: Changed publications: 28012042; Changed phenotypes: Hypokalemic periodic paralyisis type 1 170400: congenital myopathy
Congenital myopathy v1.120 BIN1 Rachael Mein edited their review of gene: BIN1: Changed rating: GREEN; Changed publications: 17676042; Changed phenotypes: Centronuclear Myopathy, Recessive, Myopathy, centronuclear, autosomal recessive, 255200
Congenital myopathy v1.120 ACTN2 Rachael Mein edited their review of gene: ACTN2: Changed rating: AMBER; Changed phenotypes: Multiple structured Core Disease
Congenital myopathy v1.119 ACTN2 Louise Daugherty Phenotypes for gene: ACTN2 were changed from CAP myopathy 1, 609284; Myopathy, congenital, with fiber-type disproportion, 255310; Nemaline myopathy 1, autosomal dominant or recessive, 609284 to Multiple structured Core Disease
Congenital myopathy v1.118 CNTN1 Louise Daugherty Phenotypes for gene: CNTN1 were changed from ?Myopathy, congenital, Compton-North, 612540; Myopathy, centronuclear, 4, 614807 to ?Myopathy, congenital, Compton-North, 612540
Congenital myopathy v1.117 CNTN1 Louise Daugherty Phenotypes for gene: CNTN1 were changed from ?Myopathy, congenital, Compton-North, 612540 to ?Myopathy, congenital, Compton-North, 612540; Myopathy, centronuclear, 4, 614807
Congenital myopathy v1.116 CNTN1 Louise Daugherty Publications for gene: CNTN1 were set to 19026398
Congenital myopathy v1.115 CCDC78 Louise Daugherty Phenotypes for gene: CCDC78 were changed from Myopathy, centronuclear, 4, 614807 to Myopathy, centronuclear, 4, 614807; Hypokalemic periodic paralyisis type 1, 170400; congenital myopathy
Congenital myopathy v1.114 CCDC78 Louise Daugherty Publications for gene: CCDC78 were set to 22818856
Congenital myopathy v1.113 ACTN2 Louise Daugherty Publications for gene: ACTN2 were set to
Congenital myopathy v1.112 ACTN2 Louise Daugherty Phenotypes for gene: ACTN2 were changed from to CAP myopathy 1, 609284; Myopathy, congenital, with fiber-type disproportion, 255310; Nemaline myopathy 1, autosomal dominant or recessive, 609284
Congenital myopathy v1.111 ACTN2 Louise Daugherty Mode of inheritance for gene: ACTN2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myaesthenic syndrome v1.35 Louise Daugherty removed gene:GRN from the panel
Childhood onset hereditary spastic paraplegia v1.73 AFG3L2 Nick Beauchamp reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17101804, 22022284, 27165006; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset hereditary spastic paraplegia v0.52 ADAR Nick Beauchamp reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: None; Publications: 25243380, 25604658; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.73 ADAR Nick Beauchamp reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: None; Publications: 25243380, 25604658; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v1.47 MYMK Louise Daugherty Phenotypes for gene: MYMK were changed from Carey-Fineman-Ziter syndrome 254940 to Carey-Fineman-Ziter syndrome, 254940
Congenital muscular dystrophy v1.46 MICU1 Louise Daugherty Phenotypes for gene: MICU1 were changed from myopathy with extrapyramidal signs to Myopathy with extrapyramidal signs, 615673
Congenital muscular dystrophy v1.45 PLEC Louise Daugherty Mode of inheritance for gene: PLEC was changed from to BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.52 ABCD1 Nick Beauchamp reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 61263, 17372139; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.73 ABCD1 Nick Beauchamp reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 61263, 17372139; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Optic neuropathy v1.113 TMEM126A Ivone Leong Classified gene: TMEM126A as Green List (high evidence)
Optic neuropathy v1.113 TMEM126A Ivone Leong Added comment: Comment on list classification: Promoted from amber to green based on the additional on case that was found (PMID: 30961538).
Optic neuropathy v1.113 TMEM126A Ivone Leong Gene: tmem126a has been classified as Green List (High Evidence).
Optic neuropathy v1.112 TMEM126A Ivone Leong Publications for gene: TMEM126A were set to 19327736; 20405026; 22815638
Optic neuropathy v1.111 TMEM126A Ivone Leong edited their review of gene: TMEM126A: Added comment: PMID: 30961538 describes a study of 3 affected individuals from 2 unrelated families. A Turkish patient with optic atrophy has a homozygous splice donor variant (c.86+2 T<C) in TMEM126A. Two Iraqi siblings with optic atrophy were found to have a homozygous missense variant (p.S36L) in TMEM126A.; Changed publications: 30961538
Mitochondrial disorders v1.291 VPS13C Ivone Leong Classified gene: VPS13C as Green List (high evidence)
Mitochondrial disorders v1.291 VPS13C Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on expert review. This gene is associated with a phenotype in OMIM but not Gene2Phenotype. There are >3 unrelated cases of patients with different variants in this gene.
Mitochondrial disorders v1.291 VPS13C Ivone Leong Gene: vps13c has been classified as Green List (High Evidence).
Mitochondrial disorders v1.290 VPS13C Ivone Leong Publications for gene: VPS13C were set to 26942284
Mitochondrial disorders v1.289 VPS13C Ivone Leong Mode of inheritance for gene: VPS13C was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.288 VPS13C Ivone Leong Publications for gene: VPS13C were set to 616840
Mitochondrial disorders v1.287 VPS13C Ivone Leong Publications for gene: VPS13C were set to
Hereditary neuropathy v1.79 DCTN1 Louise Daugherty Phenotypes for gene: DCTN1 were changed from {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Neuropathy, distal hereditary motor, type VIIB 607641; Perry syndrome 168605 to {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Neuropathy, distal hereditary motor, type VIIB 607641; Perry syndrome, 168605
Mitochondrial disorders v1.286 VPS13C Ivone Leong Phenotypes for gene: VPS13C were changed from to Parkinson disease 23, autosomal recessive, early onset, 616840
Mitochondrial disorders v1.285 UQCC3 Ivone Leong Classified gene: UQCC3 as Amber List (moderate evidence)
Mitochondrial disorders v1.285 UQCC3 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. UQCC3 is associated with a phenotype in OMIM but not in Gene2Phenotype. PMID: 25008109 reported on a patient born of consanguineous parents with homozygous variant in this gene. PMID: 28804536 reported on a Turkish patient born of consanguineous parents with two different homozygous variants in this this gene. As there are only 2 cases, currently there is not enough evidence to promote this gene to green. A watchlist tag has also been added.
Mitochondrial disorders v1.285 UQCC3 Ivone Leong Gene: uqcc3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.284 UQCC3 Ivone Leong Tag watchlist tag was added to gene: UQCC3.
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.67 ARSB Eleanor Williams Publications for gene: ARSB were set to
Mitochondrial disorders v1.284 UQCC3 Ivone Leong Mode of inheritance for gene: UQCC3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.283 UQCC3 Ivone Leong Publications for gene: UQCC3 were set to
Mitochondrial disorders v1.282 TXN2 Ivone Leong commented on gene: TXN2
Mitochondrial disorders v1.282 TXN2 Ivone Leong Publications for gene: TXN2 were set to PMID: 26626369
Common craniosynostosis syndromes v0.5 FGFR1 Eleanor Williams Phenotypes for gene: FGFR1 were changed from to Jackson-Weiss syndrome; Osteoglophonic dysplasia; Pfeiffer syndrome
Common craniosynostosis syndromes v0.4 TWIST1 Eleanor Williams Phenotypes for gene: TWIST1 were changed from to Craniosynostosis 1 123100; Saethre-Chotzen syndrome with or without eyelid anomalies 101400
Mitochondrial disorders v1.281 STAT2 Ivone Leong Classified gene: STAT2 as Green List (high evidence)
Mitochondrial disorders v1.281 STAT2 Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on expert reviews. STAT2 is associated with a phenotype in OMIM but not in Gene2Phenotype. There are 3 unrelated cases of patients with different variants in this gene.
Mitochondrial disorders v1.281 STAT2 Ivone Leong Gene: stat2 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.203 VPS37A Louise Daugherty commented on gene: VPS37A
Hereditary spastic paraplegia v1.203 VAMP1 Louise Daugherty reviewed gene: VAMP1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 TFG Louise Daugherty reviewed gene: TFG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 TECPR2 Louise Daugherty reviewed gene: TECPR2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset hereditary spastic paraplegia v1.73 SLC33A1 Louise Daugherty Classified gene: SLC33A1 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.73 SLC33A1 Louise Daugherty Gene: slc33a1 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.203 SLC33A1 Louise Daugherty commented on gene: SLC33A1
Hereditary spastic paraplegia v1.203 SLC25A46 Louise Daugherty reviewed gene: SLC25A46: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 REEP2 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia v1.203 REEP2 Louise Daugherty commented on gene: REEP2: Gene to be reviewed again after the GMS Neurology specialist test group have reviewed and agreed rating of gene on the Hereditary spastic paraplegia - childhood onset panel on May 2019
Hereditary spastic paraplegia v1.203 REEP2 Louise Daugherty edited their review of gene: REEP2: Added comment: Gene to be reviewed again after the GMS Neurology specialist test group have reviewed and agreed rating of gene on the Hereditary spastic paraplegia - childhood onset panel on May 2019; Changed rating: AMBER
Hereditary spastic paraplegia v1.203 PSEN1 Louise Daugherty reviewed gene: PSEN1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 MTPAP Louise Daugherty reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 MARS2 Louise Daugherty reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 MAG Louise Daugherty reviewed gene: MAG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 LYST Louise Daugherty reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 KIF1C Louise Daugherty reviewed gene: KIF1C: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 KDM5C Louise Daugherty reviewed gene: KDM5C: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 IBA57 Louise Daugherty reviewed gene: IBA57: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 GJC2 Louise Daugherty reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 GCH1 Louise Daugherty reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 DSTYK Louise Daugherty edited their review of gene: DSTYK: Changed rating: AMBER
Hereditary spastic paraplegia v1.203 DSTYK Louise Daugherty commented on gene: DSTYK
Hereditary spastic paraplegia v1.203 DARS Louise Daugherty reviewed gene: DARS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 CDK16 Louise Daugherty commented on gene: CDK16
Hereditary spastic paraplegia v1.203 CAPN1 Louise Daugherty reviewed gene: CAPN1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 AP5Z1 Louise Daugherty reviewed gene: AP5Z1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary spastic paraplegia v1.203 AMPD2 Louise Daugherty reviewed gene: AMPD2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.66 SPECC1L Eleanor Williams Publications for gene: SPECC1L were set to 25412741
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.65 SPECC1L Eleanor Williams Added comment: Comment on publications: Kruska et al 2015 PMID: 25412741, Bhoj et al 2015 PMID: 26111080
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.65 SPECC1L Eleanor Williams Publications for gene: SPECC1L were set to 25412741
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.64 SLC25A24 Eleanor Williams Added comment: Comment on publications: Writzl et al 2017 PMID: 29100094
Ehmke et al 2017 PMID: 29100093
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.64 SLC25A24 Eleanor Williams Publications for gene: SLC25A24 were set to
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.63 PTPN11 Eleanor Williams Added comment: Comment on publications: Ueda et al 2017 PMID: 28650561
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.63 PTPN11 Eleanor Williams Publications for gene: PTPN11 were set to
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.62 P4HB Eleanor Williams Added comment: Comment on publications: Rauch et al 2015 PMID: 25683117
Ouyang et al 2017 PMID: 29384951
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.62 P4HB Eleanor Williams Publications for gene: P4HB were set to
Childhood onset hereditary spastic paraplegia v1.72 VPS37A Louise Daugherty Classified gene: VPS37A as Red List (low evidence)
Childhood onset hereditary spastic paraplegia v1.72 VPS37A Louise Daugherty Gene: vps37a has been classified as Red List (Low Evidence).
Childhood onset hereditary spastic paraplegia v1.71 VPS37A Louise Daugherty commented on gene: VPS37A: Red rating on Hereditary spastic paraplegia panel 1.198

Comment when marking as ready: single founder Arab mutation further evidence required. A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis. Zivony-Elboum Y1, Westbroek W, Kfir N, Savitzki D, Shoval Y, Bloom A, Rod R, Khayat M, Gross B, Samri W, Cohen H, Sonkin V, Freidman T, Geiger D, Fattal-Valevski A, Anikster Y, Waters AM, Kleta R, Falik-Zaccai TC.
emma baple (Genomics England Curator), 10 May 2016. Submitted Red rating
Childhood onset hereditary spastic paraplegia v1.71 VAMP1 Louise Daugherty commented on gene: VAMP1: Red rating on Hereditary spastic paraplegia panel 1.198

Added 'founder effect' tag based on Emma Baple's review of PMID:22958904.
Rebecca Foulger (Genomics England curator), 24 Oct 2017

Comment on mode of inheritance: Monoallelic mode of inheritance supported by OMIM.
Rebecca Foulger (Genomics England curator), 12 Oct 2017

Comment when marking as ready: Newfoundland founder mutation described. Further evidence required Bourassa, C. V., Meijer, I. A., Merner, N. D., Grewal, K. K., Stefanelli, M. G., Hodgkinson, K., Ives, E. J., Pryse-Phillips, W., Jog, M., Boycott, K., Grimes, D. A., Goobie, S., Leckey, R., Dion, P. A., Rouleau, G. A. VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. Am. J. Hum. Genet. 91: 548-552, 2012
emma baple (Genomics England Curator), 10 May 2016
Childhood onset hereditary spastic paraplegia v1.71 VAMP1 Louise Daugherty Classified gene: VAMP1 as Red List (low evidence)
Childhood onset hereditary spastic paraplegia v1.71 VAMP1 Louise Daugherty Gene: vamp1 has been classified as Red List (Low Evidence).
Childhood onset hereditary spastic paraplegia v1.70 TFG Louise Daugherty Classified gene: TFG as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.70 TFG Louise Daugherty Gene: tfg has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.69 TFG Louise Daugherty Publications for gene: TFG were set to Beetz et al. (2013)
Childhood onset hereditary spastic paraplegia v1.68 TFG Louise Daugherty commented on gene: TFG: Amber rating on Hereditary spastic paraplegia panel 1.198

Beetz (2013, 23479643) Initial report. Exome study, 2 sibs with early-onset spastic paraplegia, optic atrophy, and neuropathy, with hom c.316C>T (p.R106C). In vitro defect shown in self-assembly. Harlalka (2016, 27492651) also described a c.317G>A (p.R106H) homozygous family, and proposed a founder origin for the c.316C>T variant, as well as a c.316_317 hotspot. further mt invitro studies supportive evidence. Elsayed (2016, 27601211) implicated TGF in one family; homozygous c.64C>T (p.(Arg22Trp) with HSP In Sheffield diagnostic HSP panel
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018

Comment when marking as ready: Single Indian family currently described in association with HSP
emma baple (Genomics England Curator), 10 May 2016
Hereditary spastic paraplegia v1.203 TFG Louise Daugherty Classified gene: TFG as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.203 TFG Louise Daugherty Gene: tfg has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.68 TECPR2 Louise Daugherty commented on gene: TECPR2: Red rating on Hereditary spastic paraplegia panel 1.198

Oz-Levi (2012, 23176824 ), ?founder fs deletion in Jewish Bukharian families with HSP-related phenotype. Some functional studies supporting an association. Zhu (2015, 25590979), different homozygous fs deletion. Pt had overlapping manifestations with SPG49. No functional studies. Currently included in Sheffield's HSP panel
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018. Submitted Amber rating.

PMID:26542466 (2016) report 3 additional patients from unrelated non-Bukharian families, harboring two novel variants (c.1319delT, c.C566T) in TECPR2, suggesting that variants are not restricted to Bukharian origin.
Rebecca Foulger (Genomics England curator), 31 Oct 2017

Comment when marking as ready: limited evidence founder Jewish mutation
emma baple (Genomics England Curator), 10 May 2016
Childhood onset hereditary spastic paraplegia v1.68 TECPR2 Louise Daugherty Classified gene: TECPR2 as Red List (low evidence)
Childhood onset hereditary spastic paraplegia v1.68 TECPR2 Louise Daugherty Gene: tecpr2 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.202 SLC33A1 Louise Daugherty Classified gene: SLC33A1 as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.202 SLC33A1 Louise Daugherty Gene: slc33a1 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.67 SLC33A1 Louise Daugherty commented on gene: SLC33A1: Amber rating on Hereditary spastic paraplegia panel 1.198

helen kingston (CMFT NHS Foundation Trust, Manchester)
5 Nov 2017 Submitted Green review.

Comment when marking as ready: Very clear association of autosomal recessive mutations with congenital cataracts, hearing loss, and neurodegeneration. Limited evidence currently for HSP
emma baple (Genomics England Curator), 10 May 2016

A mutation in this gene has been described in one chinese family affected by pure HSP, showing autosomal dominant inheritance with reduced penetrance. A subsequent screen of 220 pure HSP patients of mostly caucasian origin failed to identify mutations with this gene.
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square), 13 Jan 2016. Submitted Amber rating
Childhood onset hereditary spastic paraplegia v1.67 SLC33A1 Louise Daugherty Classified gene: SLC33A1 as Red List (low evidence)
Childhood onset hereditary spastic paraplegia v1.67 SLC33A1 Louise Daugherty Gene: slc33a1 has been classified as Red List (Low Evidence).
Childhood onset hereditary spastic paraplegia v1.66 SLC25A46 Louise Daugherty commented on gene: SLC25A46: Green rating on Hereditary spastic paraplegia panel 1.198
Associated with phenotype in OMIM, not in G2P. At least 10 variants reported
Sarah Leigh (Genomics England Curator), 15 Sep 2017
Childhood onset hereditary spastic paraplegia v1.66 REEP2 Louise Daugherty Classified gene: REEP2 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.66 REEP2 Louise Daugherty Gene: reep2 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.65 REEP2 Louise Daugherty commented on gene: REEP2: Amber rating on Hereditary spastic paraplegia panel 1.198

Roda (2017, 28491902). de novo REEP2 missense (c.119T > G, p.Met40Arg) at a highly-conserved residue very close to another known pathogenic missense change. No functional studies.
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018. Submitted Amber rating.

Comment on list classification: changed from red to amber based on upon two families
Louise Daugherty (Genomics England Curator), 30 Nov 2017

Known to be a movement disorder associated gene. Associated with phenotype in OMIM. At least 3 variants reported in 2 large unrelated families, Autosomal dominant inheritance was reported in one family and autosomal recessive inheritance in another. Observed clinical phenotype includes difficulty in walking and stiff legs associated with hyperreflexia and extensor plantar responses in early childhood. Cognition, speech, and ocular function are normal (summary by Esteves et al., PMID:24388663)
Louise Daugherty (Genomics England Curator), 27 Nov 2017
Childhood onset hereditary spastic paraplegia v1.65 PSEN1 Louise Daugherty commented on gene: PSEN1: Red rating on Hereditary spastic paraplegia panel 1.198.

helen kingston (CMFT NHS Foundation Trust, Manchester)
5 Nov 2017 Submitted Green rating.

Comment when marking as ready: Given the primary association is with dementia and this is gene is included on the associated panel we have excluded it here.
emma baple (Genomics England Curator), 10 May 2016. Submitted Red rating.
Childhood onset hereditary spastic paraplegia v1.65 PSEN1 Louise Daugherty Classified gene: PSEN1 as Red List (low evidence)
Childhood onset hereditary spastic paraplegia v1.65 PSEN1 Louise Daugherty Gene: psen1 has been classified as Red List (Low Evidence).
Childhood onset hereditary spastic paraplegia v1.64 POLR3A Louise Daugherty Classified gene: POLR3A as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.64 POLR3A Louise Daugherty Gene: polr3a has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.63 POLR3A Louise Daugherty Classified gene: POLR3A as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.63 POLR3A Louise Daugherty Gene: polr3a has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.62 POLR3A Louise Daugherty commented on gene: POLR3A: Red review in file submitted by James Polke but comment denoted Green rating. Need to confirm Green rating so currently rated as Amber.
Childhood onset hereditary spastic paraplegia v1.62 MTPAP Louise Daugherty commented on gene: MTPAP: Amber rating on Hereditary spastic paraplegia panel 1.198

2 entries on HGMD Pro Crosby (2010, 20970105); variant proposed as cause of spastic paraplegia in Amish population as founder mutation. p.N478D: Slowly progressive autosomal-recessive neurodegenerative condition, the key features of which are cerebellar ataxia, spastic paraparesis, dysarthria, optic atrophy, learning difficulties. Functional studies showed loss of polyadenylation of mitochondrial transcripts Additional functional characterisation in Wilson (2014, 25008111) Al-Shamsi (2016, 27391121) Biparental, homozygous c.1468G > T (p.V490L). 2 sibs with developmental delay and regression at 8 months of age, central hypotonia, short stature, failure to thrive, cerebellar atrophy, absence-like episodes, and hip dislocation. Parents were heterozygous. no functional studies.
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018 Submitted Amber rating
Hereditary spastic paraplegia v1.201 MTPAP Louise Daugherty Classified gene: MTPAP as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.201 MTPAP Louise Daugherty Gene: mtpap has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.62 MTPAP Louise Daugherty Classified gene: MTPAP as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.62 MTPAP Louise Daugherty Gene: mtpap has been classified as Amber List (Moderate Evidence).
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.61 JAG1 Eleanor Williams Added comment: Comment on publications: Adding PMID: 29530693 - Narro-Donate et al 2018
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.61 JAG1 Eleanor Williams Publications for gene: JAG1 were set to
Childhood onset hereditary spastic paraplegia v1.61 MARS2 Louise Daugherty Classified gene: MARS2 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.61 MARS2 Louise Daugherty Gene: mars2 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.60 MARS2 Louise Daugherty commented on gene: MARS2: Amber rating on Hereditary spastic paraplegia panel 1.198


Bayat (2012, 22448145) Approx 300b deletion /?duplication/rearrangement, Complex genomic MARS2 rearrangements identified in 54 affected French-Canadian cases belonging to 38 families with a mean age of onset of 24.4 (2–59). Lots of in vivo studies. No HGMD/Pubmed reports of MARS2 rearrangements since this paper, but probably inst being widely tested and if so, large rearrangements aren't particularly amenable to ngs
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018 Submitted Green review.

helen kingston (CMFT NHS Foundation Trust, Manchester) Submitted Green review.
Hereditary spastic paraplegia v1.200 MARS2 Louise Daugherty Classified gene: MARS2 as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.200 MARS2 Louise Daugherty Gene: mars2 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.60 MAG Louise Daugherty commented on gene: MAG: Amber rating on Hereditary spastic paraplegia panel 1.198

Comment on list classification: Updated rating from Grey to Amber: Gene added and rated red by Chris Buxton (Bristol NHS) based on 1 family in PMID:24482476. One additional family reported in PMID:26179919 but require at least one further case for diagnostic rating.
Rebecca Foulger (Genomics England curator), 18 Dec 2018

In 3 siblings with AR spastic paraplegia born of consanguineous Palestinian parents, Lossos et al. (2015, PMID:26179919) identified a homozygous c.399C-G transversion in the MAG gene (S133R).
Rebecca Foulger (Genomics England curator), 18 Dec 2018

PMID:24482476 (Novarino et al 2014) identified MAG as a HSP candidate gene based on the HSPome (network analysis). In 2 affected sisters from a consanguineous family (family 1226) with AR spastic paraplegia-75, PMID:24482476 identified homozygosity for a c.1288T-G transversion in the MAG gene (C430G).
Rebecca Foulger (Genomics England curator), 18 Dec 2018

1 family Novarino (2014, 24482476). Homozygous Cys430Gly with HSp phenotype. No other detail. 1 family. Limited evidence Diagnostic on Sheffield HSP panel Sources: Literature
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018. Submitted Red rating.
Childhood onset hereditary spastic paraplegia v1.60 MAG Louise Daugherty Classified gene: MAG as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.60 MAG Louise Daugherty Gene: mag has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.59 LYST Louise Daugherty edited their review of gene: LYST: Added comment: Amber rating on Hereditary spastic paraplegia panel 1.198

Comment on publications: PMIDs:25519960 and 25519961 are in Japanese.
Rebecca Foulger (Genomics England curator), 8 Jan 2019

Comment on list classification: Updated rating from Red to Amber. Gene added to panel by Chris Buxton (Bristol NHS) based on one family in PMID:24521565. In addition, progressive spastic paraparesis seen in affected siblings in PMID:26307451, and PMIDs 25519960 and 25519961 describe LYST as a potential HSP locus. Further cases required for a diagnostic rating.
Rebecca Foulger (Genomics England curator), 8 Jan 2019

PMID:26307451 (Desai et al 2016) report 3 affected siblings with the late-onset form of CHS, and phenotypes including progressive spastic paraparesis.
Rebecca Foulger (Genomics England curator), 8 Jan 2019

PMID:24521565 (Shimazaki et al 2014) include 2 patients in a Japanese family with parents who are first cousins. They detected a homozygous missense variant (c.4189T>G, p.F1397V) in the LYST gene. The patients had adult Chediak-Higashi syndrome (CHS) presenting spastic paraplegia with cerebellar ataxia and neuropathy.
Rebecca Foulger (Genomics England curator), 8 Jan 2019

Comment on list classification: This gene is awaiting curator evaluation and rating.
Sarah Leigh (Genomics England Curator), 19 Dec 2018

Shimazaki (2014, 24521565), homozygous LYST (c.4189T>G, p.F1397V). Gene predominantly associated with Chediak-Higashi syndrome. one publication describing a HSP like phenotype. Diagnostic on Sheffield HSP panel Sources: Literature
Chris Buxton (North Bristol NHS Trust), 28 Nov 2018; Changed publications: 25519960, 25519961, 24521565, 26307451, 25519960, 25519961
Childhood onset hereditary spastic paraplegia v1.59 LYST Louise Daugherty Classified gene: LYST as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.59 LYST Louise Daugherty Gene: lyst has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.58 KIF1C Louise Daugherty commented on gene: KIF1C: Amber rating on Hereditary spastic paraplegia panel 1.198

More familailes listed on OMIM (Nov 2018): In affected members of 2 unrelated families with SPAX2, Dor et al. (2014) identified 2 different homozygous mutations in the KIF1C gene (R731X, 603060.0001 and R169W, 603060.0002). The mutations were found using a combination of homozygosity mapping and whole-exome sequencing. Functional studies were not performed. In 2 consanguineous families with SPAX2, Novarino et al. (2014) identified homozygous mutations in the KIF1C gene: the R731X mutation previously identified by Dor et al. (2014) and a splice site mutation (603060.0003). Novarino et al. (2014) also identified a homozygous deletion of exons 14-18 of the KIF1C gene (603060.0004) in affected members of the Moroccan family with SPAX2 reported by Bouslam et al. (2007).
Chris Buxton (North Bristol NHS Trust), 26 Nov 2018 Amber rating submitted

One patient in Gel cohort found to have compound heterozygous VUS but uncertain significance. To review literature when panel next reviewed
Alice Gardham (Genomics England), 19 Jan 2017

Comment when marking as ready: Still only limited evidence
emma baple (Genomics England Curator), 10 May 2016
Childhood onset hereditary spastic paraplegia v1.58 KIF1C Louise Daugherty Classified gene: KIF1C as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.58 KIF1C Louise Daugherty Gene: kif1c has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.199 KIF1C Louise Daugherty Classified gene: KIF1C as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.199 KIF1C Louise Daugherty Gene: kif1c has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.57 KDM5C Louise Daugherty commented on gene: KDM5C: Amber rating on Hereditary spastic paraplegia panel 1.198

Comment on list classification: Updated rating from Red to Amber. Gene added to panel and rated Red by Chris Buxton (Bristol NHS). MIM:300534 is characterized by ID, progressive spastic paraplegia, short stature, microcephaly, and dysmorphic facial appearance. Chris Buxton reports 2 families from the literature (PMIDs10982473; 15586325; 26919706) with KDM5C variants and spastic paraplegia symptoms. Therefore Amber awaiting further cases.
Rebecca Foulger (Genomics England curator), 8 Jan 2019

PMID:26919706 investigated a family of 3 boys with ID and among them identified two different variants in KDM5C: Two affected boys have c.633delG and the other has c.631delC. The boys presented with severe DD, progressive spasticity (predominantly in the lower limbs), epilepsy and subclinical hypothyroidism. The mother has two different frameshift mutations: a heterozygous germline mutation, c.631delC, and a low-prevalence somatic mutation, c.633delG.
Rebecca Foulger (Genomics England curator), 8 Jan 2019

PMID:15586325 (Jensen 2005) identifed a L731F variant in 4 members of a family with X-linked complicated spastic paraplegia previously described by Claes et al (2000, PMID:10982473).
Rebecca Foulger (Genomics England curator), 8 Jan 2019

Comment on list classification: This gene is awaiting curator evaluation and rating.
Sarah Leigh (Genomics England Curator), 19 Dec 2018

Claes (2000, 10982473) reported candidate HSP locus Xp21.1-Xq21.3. Jensen (2005, 15586325) identified as JARID1C(syn)/KDM5C gene: c.2191C>T Leu731Phe. 4 males in same pedigree: two generations present with severe MR, slowly progressive spastic paraplegia, facial hypotonia, and maxillary hypoplasia. Additional features are aggressive behavior and strabismus; Fujita (2016, 26919706). Two different fs deletion variants. maternal reversion mechanims? Progressive spasticity component to phenotype. Currently diagnostic on Sheffield's HSP panel Sources: Literature
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018 Red rating submitted
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.60 HUWE1 Eleanor Williams Added comment: Comment on publications: Adding Moortgat et al 2018 PMID:29180823
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.60 HUWE1 Eleanor Williams Publications for gene: HUWE1 were set to 25985138; 25590979
Childhood onset hereditary spastic paraplegia v1.57 KDM5C Louise Daugherty Classified gene: KDM5C as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.57 KDM5C Louise Daugherty Gene: kdm5c has been classified as Amber List (Moderate Evidence).
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.59 HUWE1 Eleanor Williams Publications for gene: HUWE1 were set to
Childhood onset hereditary spastic paraplegia v1.56 IBA57 Louise Daugherty commented on gene: IBA57: Amber rating on Hereditary spastic paraplegia panel 1.198

Comment on list classification: Kept rating as Amber following clinical review by Helen Brittain, who notes that it is possible that the varied phenotypes are part of the spectrum of presentations within IBA57 regarding its mitochondrial function (the more commonly reported recessive phenotype of mitochondrial dysfunction encompasses spasticity in several patients). IBA57 is green on the 'Mitochondrial disorders' panel which is the better route for detecting this broader phenotype. Ideally, further cases with an understanding of the spectrum of pathogenic variants and detailed phenotypic information will help in being confident about inclusion on this HSP panel.
Rebecca Foulger (Genomics England curator), 2 Mar 2019

Comment on list classification: Updated rating from Grey to Amber: Gene added and rated Red by Chris Buxton (Bristol NHS) based on 1 family in PMID:25609768. 2 additional families in PMID:30258207 (2018) but phenotype is variable and 2 Jewish brothers with same compound het variants have different symptoms. Therefore rated Amber awaiting clinical feedback.
Rebecca Foulger (Genomics England curator), 18 Dec 2018

PMID:30258207 (Hamanaka et al, 2018) performed whole-exome sequencing in 2 unrelated families (Sepharadi Jewish and Japanese) with leukodystrophy. The 29-year-old Sepharadi Jewish male had clinically asymptomatic leukodystrophy. His 19-year-old younger brother, with the same compound heterozygous IBA57 variants, had a similar clinical course until 7 years of age when he developed a rapidly progressive spastic paraparesis following a febrile illness. A 7-year-old Japanese girl had developmental regression, spastic quadriplegia, and abnormal periventricular white matter. Therefore HSP symptoms amongst the individuals but phenotypes are very varied.
Rebecca Foulger (Genomics England curator), 18 Dec 2018

In affected members of a large consanguineous Arab family with AR spastic paraplegia, Lossos et al. (2015, PMID:25609768) identified a homozygous splice site variant in IBA57.
Rebecca Foulger (Genomics England curator), 18 Dec 2018

Lossos (2015, 25609768). Homozygous donor splice-site mutation in the IBA57. mRNA studies done, some protein studies support pathogenicity. 1 family, limited evidence. Sources: Literature Provided in Sheffield Lab diagnostic HSP panel
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018. Red rating submitted.
Childhood onset hereditary spastic paraplegia v1.56 IBA57 Louise Daugherty Classified gene: IBA57 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.56 IBA57 Louise Daugherty Gene: iba57 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.55 GJC2 Louise Daugherty commented on gene: GJC2: Red rating on Hereditary spastic paraplegia panel 1.198

Lots of accounts linking this gene with "Pelizaeus-Merzbacher-like" disorder. Needs more expert curation in case PLP is a ddx for HSP, but given that PLP1 isnt in HSP panel this looks unlikely
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018. Amber rating submitted.

This gene is on the Hereditary Spastic Paraplagia (HSP) NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual: "GJC2 encodes a gap junction protein which plays a key role in central myelination and is involved in peripheral myelination in humans. Mutations in this gene have been associated with autosomal recessive Pelizaeus-Merzbacher-like disease-1 (SPG44)." It is a confirmed DD gene for spastic paraplegia 44, with monoallelic inheritance (OMIM states recessive inheritance).
Ellen McDonagh (Genomics England Curator), 14 Jun 2016

Only a single family described with this phenotype, many more cases with the above phenotypes
emma baple (Genomics England Curator), 7 Feb 2016 Red rating submitted
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.58 FAM20C Eleanor Williams Phenotypes for gene: FAM20C were changed from to Raine syndrome
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.57 FAM20C Eleanor Williams Publications for gene: FAM20C were set to
Childhood onset hereditary spastic paraplegia v1.55 GJC2 Louise Daugherty Classified gene: GJC2 as Red List (low evidence)
Childhood onset hereditary spastic paraplegia v1.55 GJC2 Louise Daugherty Gene: gjc2 has been classified as Red List (Low Evidence).
Childhood onset hereditary spastic paraplegia v1.54 GCH1 Louise Daugherty commented on gene: GCH1: Amber rating on Hereditary spastic paraplegia panel 1.198

Comment on list classification: Kept rating as Amber following clinical review from Helen Brittain- Amber rating is appropriate for now, based upon the two cases and some phenotypic queries.
Rebecca Foulger (Genomics England curator), 2 Mar 2019

Comment on mode of inheritance: Both literature cases (PMID:24509643; 21935284) are heterozygous, so have kept MOI as Monoallelic for now while gene is rated Amber. Note that OMIM displays AR and AD inheritance for Dystonia, DOPA-responsive, with or without hyperphenylalaninemia (MIM:128230).
Rebecca Foulger (Genomics England curator), 28 Jan 2019

Comment on list classification: Updated rating from Grey to Amber awaiting feedback from clinical team. 2 literature cases of HSP phenotype in PMIDs:24509643,21935284 both of which involved previous misdiagnosis of DRD/cerebral palsy.
Rebecca Foulger (Genomics England curator), 18 Dec 2018

PMID:21935284 (Lee et al. 2011) report a novel initiation codon mutation (c.1A>T; p.Met1Leu) in GCH1 in a patient with dopa-responsive dystonia (DRD) that had previously been mis-diagnosed as cerbral palsy.
Rebecca Foulger (Genomics England curator), 18 Dec 2018

PMID:24509643 (Fan et al 2014) identified a heterozygous GCH1 variant (R216X) by WES in a patient presenting with progressive spastic paraplegia. The R216X variant had been previously reported as causal for dopa-responsive dystonia (MIM:128230), a phenotype that can resemble HSP.
Rebecca Foulger (Genomics England curator), 18 Dec 2018

Fan (2014, 24509643) het for nonsense variant previously associated with dopa-responsive dystonia. Authors observe that Dopa-responsive Dystonia can resemble HSP Lee (2011, 21935284), another example of DRD misdiagnosed as Cerebral palsy with GCH1 c.1A>T; p.Met1Leu missense Diagnostic on Sheffield HSP panel Sources: Literature
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018. Green rating submitted.
Childhood onset hereditary spastic paraplegia v1.54 GCH1 Louise Daugherty Classified gene: GCH1 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.54 GCH1 Louise Daugherty Gene: gch1 has been classified as Amber List (Moderate Evidence).
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.56 CYP26B1 Eleanor Williams Publications for gene: CYP26B1 were set to
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.55 CYP26B1 Eleanor Williams commented on gene: CYP26B1: Laue et al 2011 PMID: 22019272 - 2 families.
Morton et al 2016 PMID: 27410456
Mitochondrial disorders v1.280 STAT2 Ivone Leong Phenotypes for gene: STAT2 were changed from severe neurological deterioration following viral infection; elongated mitochondria to severe neurological deterioration following viral infection; elongated mitochondria; Immunodeficiency 44, 616636
Mitochondrial disorders v1.279 STAT2 Ivone Leong Publications for gene: STAT2 were set to PMID: 26122121
Childhood onset hereditary spastic paraplegia v1.53 DSTYK Louise Daugherty Classified gene: DSTYK as Red List (low evidence)
Childhood onset hereditary spastic paraplegia v1.53 DSTYK Louise Daugherty Gene: dstyk has been classified as Red List (Low Evidence).
Childhood onset hereditary spastic paraplegia v1.52 DSTYK Louise Daugherty commented on gene: DSTYK: Red rating on Hereditary spastic paraplegia panel 1.198

Added 'Founder effect' tag based on haplotype analysis in Lee et al. (2017, PMID:28157540) which indicates a founder effect- the same deletion/insertion was identified in 3 unrelated families. At the time of curation, PMID:28157540 provides all evidence for the disease:gene association.
Rebecca Foulger (Genomics England curator), 11 May 2017

In affected members of 3 unrelated families of Middle Eastern descent with spastic paraplegia-23 (MIM:270750) Lee et al. (2017, PMID:28157540) identified a homozygous intragenic deletion/insertion in the DSTYK gene. The deletion segregated with the disorder in all 3 families. Haplotype analysis indicated a founder effect. The deletion insertion consisted of a 4-kb deletion associated with a 20-bp insertion, resulting in the removal of the last 2 exons of DSTYK (exons 12 and 13) along with part of the 3-prime untranslated region.
Rebecca Foulger (Genomics England curator), 11 May 2017
Childhood onset hereditary spastic paraplegia v1.52 DARS Louise Daugherty commented on gene: DARS: Comment on list classification: Updated rating from Red to Amber to match expert review and literature evidence. Added to panel and rated Amber by Chris Buxton (Bristol NHS). 2 patients in PMID:25527264 with onset in late adolescence who presented with subacute spastic paraplegia.
Rebecca Foulger (Genomics England curator), 8 Jan 2019

Wolf (2015, 25527264) report 3 patients with variants in DARS. One patient had typical infantile presentation but 2 patients with onset in late adolescence presented with subacute spastic paraplegia. Patient 1 was compound heterozygous for c.599C>G; p.Ser200Cys and c.830C>T; p.Ser277Phe. Patient 2 was homozygous for c.1277T>C; p.Leu426Ser, and patient 3 compound heterozygous for c.839A>T; p.His280Leu and c.1099G>C; p.Asp367His.
Rebecca Foulger (Genomics England curator), 8 Jan 2019

Amber rating on Hereditary spastic paraplegia panel 1.198

Comment on list classification: This gene is awaiting curator evaluation and rating.
Sarah Leigh (Genomics England Curator), 19 Dec 2018

HGMD: 15 missense, 1 ins associated with: Hypomyelination with brain stem and spinal cord involvement and leg spasticity: An autosomal recessive leukoencephalopathy characterized by onset in the first year of life of severe spasticity, mainly affecting the lower limbs and resulting in an inability to achieve independent ambulation Taft (2013, 23643384) identiofied compound-heterozygous and homozygous DARS missense variants in 7 unrelated families with severe lower limb spasticity associated with leukoencephalopathy Phenotype expanded by Wolf (2015, 25527264) to later onset and subacute spastic paraplegia. Sources: Literature
Chris Buxton (North Bristol NHS Trust), 28 Nov 2018
Childhood onset hereditary spastic paraplegia v1.52 DARS Louise Daugherty Classified gene: DARS as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.52 DARS Louise Daugherty Gene: dars has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.51 CDK16 Louise Daugherty commented on gene: CDK16: Amber rating on Hereditary spastic paraplegia panel 1.198
Not associated with phenotype in OMIM and as a possible G2P. At least 1 truncating variant identified in 4 affected members of a family with ID and spastic paraplegia, also present in 3 obligate female carriers but not in one unaffected male.
Sarah Leigh (Genomics England Curator), 19 Dec 2017
Mitochondrial disorders v1.278 SFXN4 Ivone Leong Classified gene: SFXN4 as Green List (high evidence)
Mitochondrial disorders v1.278 SFXN4 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. This gene is associated with a phenotype in OMIM. PMID: 24119684 describes 2 unrelated patients with different variants in this gene who have mitochondrial disorders. The authors also knocked down this gene in the zebrafish, which caused global mitochondrial and respiratory chain defects. Therefore, there is enough evidence to promote this gene to green.
Mitochondrial disorders v1.278 SFXN4 Ivone Leong Gene: sfxn4 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.51 AP5Z1 Louise Daugherty commented on gene: AP5Z1: Rated Red on Hereditary spastic paraplegia panel 1.198.

Amber rating : Hirst et al 2016 (4 families) since PanelApp review (2016)
Chris Buxton (North Bristol NHS Trust), 26 Nov 2018

Red rating: Only one family described to date, further evidence required.
emma baple (Genomics England Curator), 7 Feb 2016
Mitochondrial disorders v1.277 SFXN4 Ivone Leong Publications for gene: SFXN4 were set to
Mitochondrial disorders v1.276 SFXN4 Ivone Leong Phenotypes for gene: SFXN4 were changed from to Combined oxidative phosphorylation deficiency 18, 615578
Mitochondrial disorders v1.275 SFXN4 Ivone Leong Mode of inheritance for gene: SFXN4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.51 AP5Z1 Louise Daugherty Classified gene: AP5Z1 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.51 AP5Z1 Louise Daugherty Gene: ap5z1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.274 SDHAF2 Ivone Leong commented on gene: SDHAF2
Childhood onset hereditary spastic paraplegia v1.50 AMPD2 Louise Daugherty edited their review of gene: AMPD2: Changed rating: AMBER
Childhood onset hereditary spastic paraplegia v1.50 AMPD2 Louise Daugherty edited their review of gene: AMPD2: Added comment: Red rating on Hereditary spastic paraplegia panel 1.198

nonsense variant in single family in exome study. Low evidence
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018

Comment when marking as ready: Single family only - more evidence required
emma baple (Genomics England Curator), 8 Feb 2016; Changed rating: RED
Mitochondrial disorders v1.274 PNPLA8 Ivone Leong Classified gene: PNPLA8 as Green List (high evidence)
Mitochondrial disorders v1.274 PNPLA8 Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on expert review.
Mitochondrial disorders v1.274 PNPLA8 Ivone Leong Gene: pnpla8 has been classified as Green List (High Evidence).
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.55 BRAF Eleanor Williams Publications for gene: BRAF were set to
Mitochondrial disorders v1.273 PNPLA8 Ivone Leong Phenotypes for gene: PNPLA8 were changed from to ?Mitochondrial myopathy with lactic acidosis, 251950
Mitochondrial disorders v1.272 PNPLA8 Ivone Leong Publications for gene: PNPLA8 were set to
Mitochondrial disorders v1.271 PNPLA8 Ivone Leong Mode of inheritance for gene: PNPLA8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.54 B3GAT3 Eleanor Williams Publications for gene: B3GAT3 were set to
Mitochondrial disorders v1.270 PDPR Ivone Leong Publications for gene: PDPR were set to PMID: 25558065
Mitochondrial disorders v1.269 NFS1 Ivone Leong commented on gene: NFS1
Mitochondrial disorders v1.269 NFS1 Ivone Leong Publications for gene: NFS1 were set to
Mitochondrial disorders v1.268 NDUFA6 Ivone Leong Classified gene: NDUFA6 as Green List (high evidence)
Mitochondrial disorders v1.268 NDUFA6 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. This gene is associated with a phenotype in OMIM and is probably associated with a phenotype in Gene2Phenotype. PMID: 30245030 reported on 4 unrelated children of different ethnicity who have different variants in this gene with the associated phenotype. Therefore, there is enough evidence to promote this gene to green.
Mitochondrial disorders v1.268 NDUFA6 Ivone Leong Gene: ndufa6 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.267 NDUFA6 Ivone Leong Mode of inheritance for gene: NDUFA6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.266 NDUFA6 Ivone Leong Publications for gene: NDUFA6 were set to
Mitochondrial disorders v1.265 NDUFA6 Ivone Leong Phenotypes for gene: NDUFA6 were changed from Isolated complex I deficiency; No OMIM phenotype to Isolated complex I deficiency; Mitochondrial complex I deficiency, nuclear type 33, 618253
Mitochondrial disorders v1.264 NDUFA13 Ivone Leong commented on gene: NDUFA13: As there is only one reported case in the literature, there is currently not enough evidence to promote this gene to green status. Therefore, until further evidence is available this gene will remain a red gene.
Mitochondrial disorders v1.264 NDUFA13 Ivone Leong Publications for gene: NDUFA13 were set to
Mitochondrial disorders v1.263 NDUFA13 Ivone Leong Phenotypes for gene: NDUFA13 were changed from Isolated complex I deficiency; Mitochondrial Diseases; ?Mitochondrial complex I deficiency, nuclear type 28, 618249 to Isolated complex I deficiency; Mitochondrial Diseases; ?Mitochondrial complex I deficiency, nuclear type 28, 618249
Mitochondrial disorders v1.262 NDUFA13 Ivone Leong Added comment: Comment on phenotypes: Removed "{Thyroid carcinoma, Hurthle cell}, 607464" from phenotypes as this phenotype is not relevant to this panel.
Mitochondrial disorders v1.262 NDUFA13 Ivone Leong Phenotypes for gene: NDUFA13 were changed from Isolated complex I deficiency; {Thyroid carcinoma, Hurthle cell}, 607464; Mitochondrial Diseases to Isolated complex I deficiency; Mitochondrial Diseases; ?Mitochondrial complex I deficiency, nuclear type 28, 618249
Mitochondrial disorders v1.261 NDUFA12 Ivone Leong commented on gene: NDUFA12: This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There is only one case (PMID: 21617257) of a Pakistani patient with a variant in this gene who has complex I deficiency type 23 manifesting as Leigh syndrome. Therefore, this gene will remain a red gene until further evidence is available.
Mitochondrial disorders v1.261 NDUFA12 Ivone Leong Publications for gene: NDUFA12 were set to
Mitochondrial disorders v1.260 NDUFA12 Ivone Leong Added comment: Comment on phenotypes: "Leigh syndrome due to mitochondrial complex 1 deficiency, 256000" has been removed as the OMIM number does not relate to this gene. The OMIM "?Mitochondrial complex I deficiency, nuclear type 23, 618244" is what is reported for this gene in OMIM.
Mitochondrial disorders v1.260 NDUFA12 Ivone Leong Phenotypes for gene: NDUFA12 were changed from Isolated complex I deficiency; Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 to Isolated complex I deficiency; ?Mitochondrial complex I deficiency, nuclear type 23, 618244
Childhood onset hereditary spastic paraplegia v1.50 UBAP1 Louise Daugherty Classified gene: UBAP1 as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.50 UBAP1 Louise Daugherty Gene: ubap1 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.49 UBAP1 Louise Daugherty gene: UBAP1 was added
gene: UBAP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature
Mode of inheritance for gene: UBAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: UBAP1 were set to 30929741
Phenotypes for gene: UBAP1 were set to Hereditary spastic paraplegia
Review for gene: UBAP1 was set to GREEN
Added comment: From PMID:30929741: reported the identification of an autosomal-dominant gene for hereditary spastic paraplegia (HSP) in 10 families that are of diverse geographic origin and whose affected members all carry unique truncating changes in a circumscript region of UBAP1. They identified pathological truncating variants in UBAP1 in affected persons from Iran, USA, Germany, Canada, Spain, and Bulgarian Roma. The genetic support ranges from linkage in the largest family (LOD = 8.3) to three confirmed de novo mutations. They also showed that mRNA in the fibroblasts of affected individuals escapes nonsense-mediated decay and thus leads to the expression of truncated proteins; in addition, concentrations of the full-length protein are reduced in comparison to those in controls.
Sources: Literature
Sources: Literature
Adult onset hereditary spastic paraplegia v0.52 UBAP1 Louise Daugherty Classified gene: UBAP1 as Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.52 UBAP1 Louise Daugherty Gene: ubap1 has been classified as Green List (High Evidence).
Adult onset hereditary spastic paraplegia v0.51 UBAP1 Louise Daugherty gene: UBAP1 was added
gene: UBAP1 was added to Hereditary spastic paraplegia - adult onset. Sources: Literature
Mode of inheritance for gene: UBAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: UBAP1 were set to 30929741
Phenotypes for gene: UBAP1 were set to Hereditary spastic paraplegia
Review for gene: UBAP1 was set to GREEN
Added comment: From PMID:30929741: reported the identification of an autosomal-dominant gene for hereditary spastic paraplegia (HSP) in 10 families that are of diverse geographic origin and whose affected members all carry unique truncating changes in a circumscript region of UBAP1. They identified pathological truncating variants in UBAP1 in affected persons from Iran, USA, Germany, Canada, Spain, and Bulgarian Roma. The genetic support ranges from linkage in the largest family (LOD = 8.3) to three confirmed de novo mutations. They also showed that mRNA in the fibroblasts of affected individuals escapes nonsense-mediated decay and thus leads to the expression of truncated proteins; in addition, concentrations of the full-length protein are reduced in comparison to those in controls.
Sources: Literature
Hereditary spastic paraplegia v1.198 UBAP1 Louise Daugherty Classified gene: UBAP1 as Green List (high evidence)
Hereditary spastic paraplegia v1.198 UBAP1 Louise Daugherty Gene: ubap1 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.259 MTPAP Ivone Leong Publications for gene: MTPAP were set to 20970105; 25008111
Hereditary spastic paraplegia v1.197 UBAP1 Louise Daugherty gene: UBAP1 was added
gene: UBAP1 was added to Hereditary spastic paraplegia. Sources: Literature
Mode of inheritance for gene: UBAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: UBAP1 were set to 30929741
Phenotypes for gene: UBAP1 were set to Hereditary spastic paraplegia
Review for gene: UBAP1 was set to GREEN
Added comment: PMID:30929741 reported the identification of an autosomal-dominant gene for hereditary spastic paraplegia (HSP) in 10 families that are of diverse geographic origin and whose affected members all carry unique truncating changes in a circumscript region of UBAP1.
Sources: Literature
Mitochondrial disorders v1.258 MTPAP Ivone Leong Publications for gene: MTPAP were set to
Mitochondrial disorders v1.257 MRPS7 Ivone Leong Phenotypes for gene: MRPS7 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); ?Combined oxidative phosphorylation deficiency 34, 617872
Mitochondrial disorders v1.256 MRPS23 Ivone Leong commented on gene: MRPS23
Mitochondrial disorders v1.256 MRPS23 Ivone Leong Publications for gene: MRPS23 were set to PMID: 26741492
Mitochondrial disorders v1.255 MRPL12 Ivone Leong commented on gene: MRPL12
Mitochondrial disorders v1.255 MRPL12 Ivone Leong Publications for gene: MRPL12 were set to
Mitochondrial disorders v1.254 MPC1 Ivone Leong Classified gene: MPC1 as Green List (high evidence)
Mitochondrial disorders v1.254 MPC1 Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on expert reviews and also mouse models for this gene.
Mitochondrial disorders v1.254 MPC1 Ivone Leong Gene: mpc1 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.253 MPC1 Ivone Leong Added comment: Comment on publications: PMID: 27176894 and 27835892 describe mouse models of MPC1 (a knockin model and a knockout model) showing the effects MPC1 has on mitochondrial function.
Mitochondrial disorders v1.253 MPC1 Ivone Leong Publications for gene: MPC1 were set to 22628558
Adult onset hereditary spastic paraplegia v0.50 WDR48 Louise Daugherty Classified gene: WDR48 as Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v0.50 WDR48 Louise Daugherty Gene: wdr48 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.252 MPC1 Ivone Leong Publications for gene: MPC1 were set to
Mitochondrial disorders v1.251 MPC1 Ivone Leong Mode of inheritance for gene: MPC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.250 FXN Ivone Leong Classified gene: FXN as Green List (high evidence)
Mitochondrial disorders v1.250 FXN Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on the provided expert reviews. FXN is associated with a phenotype in OMIM but not in Gene2Phenotype. There are >3 unrelated cases of patients with variants in this gene; therefore, there is sufficient evidence to support the promotion of this gene to green status.
Mitochondrial disorders v1.250 FXN Ivone Leong Gene: fxn has been classified as Green List (High Evidence).
Mitochondrial disorders v1.249 FXN Ivone Leong Publications for gene: FXN were set to
Mitochondrial disorders v1.248 FXN Ivone Leong Mode of inheritance for gene: FXN was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.247 FDX2 Ivone Leong Classified gene: FDX2 as Amber List (moderate evidence)
Mitochondrial disorders v1.247 FDX2 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber, based on the expert review by Zornitza Stark (Australian Genomics) and the literature.

FDX2 is associated with a phenotype in OMIM and not Gene2Phenotype.

PMID: 24281368 describes a patient born of consanguineous Jewish Moroccan patents with episodic mitochondrial myopathy without optic atrophy or reversible leukoencephalopathy. The authors identified a homozygous missense variant in this gene (M1L).

PMID: 30010796 describes 6 patients from 2 apparently unrelated Brazilian familes from the same geographical region with episodic mitochondrial myopathy. All affected individuals had the same homozygous variant (P144L). No haplotype analysis was performed.

As there are only 2 different variants reported in this gene and no haplotype analysis was performed in PMID: 30010796 it was decided that there is currently not enough evidence to promote this gene to green status. However, a watch-list tag has also been put on this gene.
Mitochondrial disorders v1.247 FDX2 Ivone Leong Gene: fdx2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.246 FDX2 Ivone Leong Tag watchlist tag was added to gene: FDX2.
Mitochondrial disorders v1.246 FDX2 Ivone Leong Publications for gene: FDX2 were set to 30010796
Mitochondrial disorders v1.245 FDX2 Ivone Leong Mode of inheritance for gene: FDX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.242 MYT1 Rebecca Foulger Mode of pathogenicity for gene: MYT1 was changed from to Other
Mitochondrial disorders v1.244 FDX2 Ivone Leong Added comment: Comment on phenotypes: The phenotype was previously "?Mitochondrial myopathy with lactic acidosis, association with, 255125"; however, this OMIM number corresponds to the gene, ISCU. I have removed this OMIM number and replaced with "Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900".
Mitochondrial disorders v1.244 FDX2 Ivone Leong Phenotypes for gene: FDX2 were changed from No OMIM phenotype?Mitochondrial myopathy with lactic acidosis, association with, 255125 to Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900
Mitochondrial disorders v1.243 FDX2 Ivone Leong Publications for gene: FDX2 were set to
Monogenic hearing loss v1.107 TSPEAR Eleanor Williams Publications for gene: TSPEAR were set to
Monogenic hearing loss v1.106 TJP2 Eleanor Williams Publications for gene: TJP2 were set to PMID: 10601346; 11018256; 12403786; 12704386; 18172007; 18616530; 20602916; 24614073; 25921221; 7951235; 8824195
Monogenic hearing loss v1.105 HGF Eleanor Williams Publications for gene: HGF were set to PMID:11343646; 11564764; 11565020; 12574630; 1386343; 14556002; 14691191; 1531136; 1535333; 15545993; 17467663; 1824873; 1831266; 1837534; 19188684; 19576567; 2142751; 21988987; 21988988; 22763439; 22763448; 2528952; 2531289; 3276728; 7624797; 7854452; 7854453; 8804995; 8898205
Monogenic hearing loss v1.104 CRYM Eleanor Williams Publications for gene: CRYM were set to PMID:12471561; 1384048; 1478656; 16740909; 9328354
Monogenic hearing loss v1.103 CRYM Eleanor Williams commented on gene: CRYM: I think the Abe et al 2003 publication referred to by Emma Ashton is PMID: 12471561 not PMID 420014
Mitochondrial disorders v1.242 DNM2 Ivone Leong Publications for gene: DNM2 were set to
Early onset or syndromic epilepsy v1.35 ZNF142 Konstantinos Varvagiannis gene: ZNF142 was added
gene: ZNF142 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: ZNF142 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF142 were set to 31036918
Phenotypes for gene: ZNF142 were set to Global developmental delay; Intellectual disability; Seizures; Tremor; Dystonia
Penetrance for gene: ZNF142 were set to Incomplete
Review for gene: ZNF142 was set to AMBER
Added comment: Khan et al. (2019 - PMID: 31036918) describe the phenotype of 7 females from 4 families, harboring biallelic likely pathogenic ZNF142 variants.

Overlapping features included cognitive impairment (ID in 6/7 from 3 families, borderline intellectual functioning was reported one occasion), speech impairement and motor impairment (7/7), and variably penetrant seizures (5/7), tremor (4/7) and dystonia (3/7). Most individuals (5/7) had experienced at least one episode of seizures (tonic-clonic) though seizures were recurrent in 3 sibs.

Other disorders with ID (eg. Angelman syndrome, Rett syndrome, chromosomal disorders) or movement disorders as a feature were previously ruled out for many subjects.

6 individuals were homozygous or compound heterozygous for LoF (stopgain or frameshift) variants. One individual harbored 2 missense SNVs in the compound heterozygous state. Variants reported include (NM_001105537.2): c. 817_818delAA (p.Lys273Glufs*32), c.1292delG (p.Cys431Leufs*11), c.3175C>T (p.Arg1059*), c.4183delC (p.Leu1395*), c.3698G>T (p.Cys1233Phe), c.4498C>T (p.Arg1500Trp) with the LoF variants predicted to result in NMD. Expression or functional studies were not carried out.

ZNF142 encodes a C2H2 domain-containing transcription factor. Mutations in other zinc finger proteins (ZNF/zfp) have been reported in several neurodevelopmental disorders impacting the CNS (eg. ZBTB20 and ZBTB11 heterozygous and biallelic mutations, respectively) and/or presenting with movement disorders among their manifestations (eg. YY1).

As the authors comment, homozygous ablation of the orthologous (Zfp142) locus in mice results in behavioral and neurological phenotypes [MGI ref.ID: J:211773 cited - http://www.informatics.jax.org/marker/reference/J:211773 (though Zfp142 or its locus do not seem to appear in the list)].

ZNF142 is not - at least commonly - included in gene panels for ID offered by diagnostic laboratories. It is not associated with any phenotype in OMIM, nor in G2P.

As a result, this gene can be considered for inclusion in the current panel as probably as amber (seizures in 5/7 individuals, though many had a single occurrence) or green.
Sources: Literature
Monogenic diabetes v1.7 DCAF17 Ivone Leong Publications for gene: DCAF17 were set to 20507343; 19026396
Monogenic diabetes v1.6 CEL Ivone Leong Publications for gene: CEL were set to 16369531
Intellectual disability v2.800 ZNF142 Konstantinos Varvagiannis gene: ZNF142 was added
gene: ZNF142 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: ZNF142 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF142 were set to 31036918
Phenotypes for gene: ZNF142 were set to Global developmental delay; Intellectual disability; Seizures; Tremor; Dystonia
Penetrance for gene: ZNF142 were set to unknown
Review for gene: ZNF142 was set to GREEN
Added comment: Khan et al. (2019 - PMID: 31036918) describe the phenotype of 7 females from 4 families, harboring biallelic likely pathogenic ZNF142 variants.

Overlapping features included cognitive impairment (ID in 6/7 from 3 families, borderline intellectual functioning was reported one occasion), speech impairement and motor impairment (7/7), and variably penetrant seizures (5/7), tremor (4/7) and dystonia (3/7). Most individuals (5/7) had experienced at least one episode of seizures (tonic-clonic) though seizures were recurrent in 3 sibs.

Other disorders with ID (eg. Angelman syndrome, Rett syndrome, chromosomal disorders) or movement disorders as a feature were previously ruled out for many subjects.

6 individuals were homozygous or compound heterozygous for LoF (stopgain or frameshift) variants. One individual harbored 2 missense SNVs in the compound heterozygous state. Variants reported include (NM_001105537.2): c. 817_818delAA (p.Lys273Glufs*32), c.1292delG (p.Cys431Leufs*11), c.3175C>T (p.Arg1059*), c.4183delC (p.Leu1395*), c.3698G>T (p.Cys1233Phe), c.4498C>T (p.Arg1500Trp) with the LoF variants predicted to result in NMD. Expression or functional studies were not carried out.

ZNF142 encodes a C2H2 domain-containing transcription factor. Mutations in other zinc finger proteins (ZNF/zfp) have been reported in several neurodevelopmental disorders impacting the CNS (eg. ZBTB20 and ZBTB11 heterozygous and biallelic mutations, respectively) and/or presenting with movement disorders among their manifestations (eg. YY1).

As the authors comment, homozygous ablation of the orthologous (Zfp142) locus in mice results in behavioral and neurological phenotypes [MGI ref.ID: J:211773 cited - http://www.informatics.jax.org/marker/reference/J:211773 (though Zfp142 or its locus do not seem to appear in the list)].

ZNF142 is not - at least commonly - included in gene panels for ID offered by diagnostic laboratories. It is not associated with any phenotype in OMIM, nor in G2P.

As a result, this gene can be considered for inclusion in the current panel as probably as green (individuals from 3 families, appropriate degree of ID for the current panel) or amber (if further evidence would be required).
Sources: Literature
Monogenic diabetes v1.5 INSR Ivone Leong Publications for gene: INSR were set to PMID: 8288049
Monogenic diabetes v1.4 HNF4A Ivone Leong Publications for gene: HNF4A were set to
Congenital myopathy v1.110 DNM2 Sarah Leigh Publications for gene: DNM2 were set to 22396310; 15689448
Congenital myopathy v1.109 DNM2 Sarah Leigh Publications for gene: DNM2 were set to 22396310
Mitochondrial DNA maintenance disorder v0.8 DNM2 Sarah Leigh Publications for gene: DNM2 were set to 25492887, 25492887 (abstract)
Mitochondrial disorders v1.241 COX8A Sarah Leigh Phenotypes for gene: COX8A were changed from Leigh-like syndrome and epilepsy to ?Mitochondrial complex IV deficiency 220110
Mitochondrial disorders v1.240 COX8A Sarah Leigh Publications for gene: COX8A were set to PMID: 26685157
Mitochondrial disorders v1.239 COX4I2 Sarah Leigh Publications for gene: COX4I2 were set to 19268275
Mitochondrial disorders v1.238 COX4I2 Sarah Leigh reviewed gene: COX4I2: Rating: RED; Mode of pathogenicity: None; Publications: 22592081; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.241 H19 Rebecca Foulger Mode of pathogenicity for gene: H19 was changed from to Other
Fetal anomalies v0.240 TRIM32 Rebecca Foulger commented on gene: TRIM32: Summary of evidence: 1 Bedouin family reported in PMID:16606853 (Chiang et al., 2006). Plus PMID:30823891 (Servián-Morilla et al 2019) report variations in TRIM32 causing a muscle dystrophy. Two patients from Family C (II.3 and II.4) had symptoms of both muscular dystrophy and BBS including hypogonadism, hearing loss, and behavioral abnormalities. Therefore 2 families reported so far.
Fetal anomalies v0.240 DDX3X Rebecca Foulger Publications for gene: DDX3X were set to 30266093
Fetal anomalies v0.239 GK Rebecca Foulger Publications for gene: GK were set to
Fetal anomalies v0.238 TUBB2A Rebecca Foulger Marked gene: TUBB2A as ready
Fetal anomalies v0.238 TUBB2A Rebecca Foulger Added comment: Comment when marking as ready: Maked TUBB2A as ready on April 30th 2019 following clinical review for fetal relevance, and a literature review for evidence.
Fetal anomalies v0.238 TUBB2A Rebecca Foulger Gene: tubb2a has been classified as Green List (High Evidence).
Fetal anomalies v0.238 TUBB2A Rebecca Foulger Publications for gene: TUBB2A were set to
Mitochondrial disorders v1.238 COX4I2 Sarah Leigh Publications for gene: COX4I2 were set to
Fetal anomalies v0.237 TUBB2A Rebecca Foulger Classified gene: TUBB2A as Green List (high evidence)
Fetal anomalies v0.237 TUBB2A Rebecca Foulger Added comment: Comment on list classification: Kept rating as Green following an assessment of evidence linking TUBB2A and cortical malformations. TUBB2A is Green on the PanelApp panel 'Malformations of cortical development'. Two cases are listed in OMIM from Cushion et al. (2014, PMID:24702957) plus further cases of Structural brain abnormalities in patients with TUBB2A variants are reported in Rodan et al., 2017 (PMID:27770045), Lee et al., 2014 (PMID:25326637) and Ejaz et al., 2017 (PMID:28840640). PMID:30016746 (2018) provides a summary. PMID:25326637 phenotypes include polymicrogyria and microcephaly (the age of onset of microcephaly is not noted). PMID:28840640 phenotypes include polymicrogyria and Arthrogryposis. Therefore sufficient evidence linking TUBB2A to cortical malformations that may be detected in a fetus.
Fetal anomalies v0.237 TUBB2A Rebecca Foulger Gene: tubb2a has been classified as Green List (High Evidence).
Fetal anomalies v0.236 TUBB2A Rebecca Foulger Mode of pathogenicity for gene: TUBB2A was changed from to Other
Fetal anomalies v0.235 TUBB2A Rebecca Foulger commented on gene: TUBB2A: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene if there is sufficient evidence. Additional notes from clinical review: Variable CNS features.
Thoracic aortic aneurysm or dissection v1.92 Ellen McDonagh Panel types changed to Rare Disease 100K
Thoracic aortic aneurysm or dissection (GMS) v0.3 Ellen McDonagh Panel name changed from GMS FTAAD placeholder panel to Thoracic aortic aneurysm and dissection
Panel status changed from internal to public
Panel types changed to GMS Rare Disease Virtual
Fetal anomalies v0.235 DNAAF3 Rebecca Foulger Added comment: Comment on phenotypes: 'PRIMARY CILIARY DYSKINEASIA' phenotype comes from DD-Gene2Phenotype. Added in MIM:606763 so the correct spelling is present for search purposes. Ciliary dyskinesia, primary, 2
Fetal anomalies v0.235 DNAAF3 Rebecca Foulger Phenotypes for gene: DNAAF3 were changed from PRIMARY CILIARY DYSKINEASIA to PRIMARY CILIARY DYSKINEASIA; Ciliary dyskinesia, primary, 2, MIM:606763
Differences in sex development v1.33 SGPL1 Ivone Leong Classified gene: SGPL1 as Green List (high evidence)
Differences in sex development v1.33 SGPL1 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. There was agreement to promote to green because experts in paediatric endocrinology agreed that ambiguous genitalia may be the presenting feature in some cases, and an early diagnosis may significantly reduce the chance of adverse clinical outcomes
Differences in sex development v1.33 SGPL1 Ivone Leong Gene: sgpl1 has been classified as Green List (High Evidence).
Fetal anomalies v0.234 NEK1 Rebecca Foulger Added comment: Comment on phenotypes: The 'SHORT RIB-POLYDACTYLY SYNDORME, TYPE II' phenotype comes from Gene2Phenotype. Added 'Short rib-polydactyly Syndrome', together with MIM:263520 so the correct spelling is present for search purposes.
Fetal anomalies v0.234 NEK1 Rebecca Foulger Phenotypes for gene: NEK1 were changed from SHORT RIB-POLYDACTYLY SYNDORME, TYPE II to SHORT RIB-POLYDACTYLY SYNDORME, TYPE II; SHORT RIB-POLYDACTYLY SYNDROME, TYPE II; Short-rib thoracic dysplasia 6 with or without polydactyly, 263520
Fetal anomalies v0.233 PCGF2 Rebecca Foulger Added comment: Comment on phenotypes: The 'INTELLECTUAL DUSBILITY' phenotype is imported from DD-Gene2Phenotype. Added 'Intellectual disability' so the correct spelling is present for search purposes.
Fetal anomalies v0.233 PCGF2 Rebecca Foulger Phenotypes for gene: PCGF2 were changed from INTELLECTUAL DUSBILITY; Craniofacial Neurological Cardiovascular and Skeletal Features to INTELLECTUAL DUSBILITY; Craniofacial Neurological Cardiovascular and Skeletal Features; Intellectual disability
Fetal anomalies v0.232 DDX3X Rebecca Foulger Phenotypes for gene: DDX3X were changed from INTELLECTUAL DIABILITY to INTELLECTUAL DIABILITY; Intellectual disability; Mental retardation, X-linked 102, 300958
Fetal anomalies v0.231 DDX3X Rebecca Foulger Added comment: Comment on phenotypes: The 'INTELLECTUAL DIABILITY phenotype is imported from DD-Gene2Phenotype. Added 'Intellectual disability' and the OMIM phenotype so the correct spelling is present for search purposes.
Fetal anomalies v0.231 DDX3X Rebecca Foulger Phenotypes for gene: DDX3X were changed from INTELLECTUAL DIABILITY to INTELLECTUAL DIABILITY
Mitochondrial disorders v1.237 COQ7 Sarah Leigh reviewed gene: COQ7: Rating: AMBER; Mode of pathogenicity: None; Publications: 28409910; Phenotypes: ; Mode of inheritance: None
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 TTN Louise Daugherty reviewed gene: TTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 SYNE2 Louise Daugherty reviewed gene: SYNE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 SMCHD1 Louise Daugherty reviewed gene: SMCHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 POMK Louise Daugherty reviewed gene: POMK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 POMGNT2 Louise Daugherty reviewed gene: POMGNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 LIMS2 Louise Daugherty reviewed gene: LIMS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 ISPD Louise Daugherty edited their review of gene: ISPD: Added comment: Review and rating from Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.; Changed rating: AMBER
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 HNRNPDL Louise Daugherty reviewed gene: HNRNPDL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 GNE Louise Daugherty reviewed gene: GNE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 DUX4 Louise Daugherty reviewed gene: DUX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 DES Louise Daugherty reviewed gene: DES: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 DAG1 Louise Daugherty reviewed gene: DAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 BVES Louise Daugherty reviewed gene: BVES: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.45 HNRNPDL Louise Daugherty Phenotypes for gene: HNRNPDL were changed from Muscular dystrophy, limb-girdle, type 1G 609115 to Muscular dystrophy, limb-girdle, type 1G 609115; Limb girdle muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.44 HNRNPDL Louise Daugherty Publications for gene: HNRNPDL were set to 24647604; 15367920
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.43 DAG1 Louise Daugherty Phenotypes for gene: DAG1 were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818; Limb girdle muscular dystrophy; congenital muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.42 HNRNPDL Louise Daugherty Publications for gene: HNRNPDL were set to 24647604
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.41 DAG1 Louise Daugherty Publications for gene: DAG1 were set to 21388311; 25503980; 25503980; 29036200; 21388311; 14678799
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.40 DES Louise Daugherty Mode of pathogenicity for gene: DES was changed from to Other
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.39 DAG1 Louise Daugherty Publications for gene: DAG1 were set to 21388311; 25503980
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.38 DES Louise Daugherty Phenotypes for gene: DES were changed from Muscular dystrophy, limb-girdle, type 2R 615325 to Muscular dystrophy, limb-girdle, type 2R, 615325; myofibrillar myopathy; cardiomyopathy; limb girdle muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.37 DES Louise Daugherty Publications for gene: DES were set to 23687351; 11073539; 19433360; 10545598
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.36 DES Louise Daugherty Publications for gene: DES were set to 23687351
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.35 GNE Louise Daugherty Phenotypes for gene: GNE were changed from Nonaka myopathy 605820 to Nonaka myopathy, 605820; Distal myopathy; Limg girdle muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.34 GNE Louise Daugherty Publications for gene: GNE were set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.33 ISPD Louise Daugherty Phenotypes for gene: ISPD were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052; congenital muscular dystrophy; limb girdle muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.32 ISPD Louise Daugherty Publications for gene: ISPD were set to 23390185
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.31 LIMS2 Louise Daugherty Phenotypes for gene: LIMS2 were changed from Muscular dystrophy, limb-girdle, type 2W 616827 to Muscular dystrophy, limb-girdle, type 2W, 616827; limb girdle muscular dystrophy; cardiomyopathy; triangular tongue
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.30 POMGNT2 Louise Daugherty Phenotypes for gene: POMGNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830; limb girdle muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.29 POMK Louise Daugherty Phenotypes for gene: POMK were changed from ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 to ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249; mb girdle musuclar dystorphy; congenital muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.28 POMK Louise Daugherty Publications for gene: POMK were set to 24925318; 24556084
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.27 SYNE2 Louise Daugherty Phenotypes for gene: SYNE2 were changed from Emery-Dreifuss muscular dystrophy 5, autosomal dominant 612999 to Emery-Dreifuss muscular dystrophy 5, autosomal dominant 612999; congenital muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.26 SYNE2 Louise Daugherty Publications for gene: SYNE2 were set to 17761684; 19542096
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.25 SYNE2 Louise Daugherty Publications for gene: SYNE2 were set to 17761684
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.24 TTN Louise Daugherty Phenotypes for gene: TTN were changed from Muscular dystrophy, limb-girdle, type 2J 608807 to Muscular dystrophy, limb-girdle, type 2J, 608807; Limb girdle muscular dystrophy; Distal myopathy; Myofibrillar myopathy; Congenital myopathy; dilated cardiomyopathy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.23 TTN Louise Daugherty Publications for gene: TTN were set to 26392295; 12145747
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 TTN Natalie Forrester reviewed gene: TTN: Rating: RED; Mode of pathogenicity: ; Publications: 12145747; Phenotypes: Muscular dystrophy, limb-girdle, type 2J, 608807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 SYNE2 Natalie Forrester reviewed gene: SYNE2: Rating: RED; Mode of pathogenicity: ; Publications: 17761684; Phenotypes: Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 SMCHD1 Natalie Forrester reviewed gene: SMCHD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Fascioscapulohumeral muscular dystrophy 2, digenic, 158901; Mode of inheritance: Other - please specifiy in evaluation comments
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 POMK Natalie Forrester reviewed gene: POMK: Rating: AMBER; Mode of pathogenicity: ; Publications: 24925318, 29910097; Phenotypes: ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 POMGNT2 Natalie Forrester reviewed gene: POMGNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27066570; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 LIMS2 Natalie Forrester reviewed gene: LIMS2: Rating: RED; Mode of pathogenicity: ; Publications: 25589244; Phenotypes: Muscular dystrophy, limb-girdle, type 2W, 616827; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 ISPD Natalie Forrester reviewed gene: ISPD: Rating: AMBER; Mode of pathogenicity: ; Publications: 23390185, 23288328; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 HNRNPDL Natalie Forrester reviewed gene: HNRNPDL: Rating: RED; Mode of pathogenicity: ; Publications: 24647604; Phenotypes: Muscular dystrophy, limb-girdle, type 1G, 609115; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 GNE Natalie Forrester reviewed gene: GNE: Rating: RED; Mode of pathogenicity: ; Publications: 22883483; Phenotypes: Nonaka myopathy, 605820; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 DUX4 Natalie Forrester reviewed gene: DUX4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Facioscapulohumeral muscular dystrophy, 158900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 DES Natalie Forrester reviewed gene: DES: Rating: RED; Mode of pathogenicity: ; Publications: 23687351; Phenotypes: Muscular dystrophy, limb-girdle, type 2R, 615325; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 DAG1 Natalie Forrester reviewed gene: DAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: 25503980, 29036200, 21388311; Phenotypes: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 BVES Natalie Forrester reviewed gene: BVES: Rating: RED; Mode of pathogenicity: ; Publications: 26642364; Phenotypes: Muscular dystrophy, limb-girdle, type 2X, 616812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.237 COQ7 Sarah Leigh Phenotypes for gene: COQ7 were changed from primary coenzyme Q10 deficiency; complex multisystem presentation to ?Coenzyme Q10 deficiency, primary, 8 616733; complex multisystem presentation
Mitochondrial disorders v1.236 COQ7 Sarah Leigh Publications for gene: COQ7 were set to PMID: 26084283
Mitochondrial disorders v1.235 COA5 Sarah Leigh Classified gene: COA5 as Red List (low evidence)
Mitochondrial disorders v1.235 COA5 Sarah Leigh Added comment: Comment on list classification: No additional variants have been reported to date.
Mitochondrial disorders v1.235 COA5 Sarah Leigh Gene: coa5 has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.234 COA5 Sarah Leigh Phenotypes for gene: COA5 were changed from Isolated complex IV deficiency; Mitochondrial complex IV deficiency, 220110; ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 to ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.21 POMGNT2 Louise Daugherty Phenotypes for gene: POMGNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830
Mitochondrial disorders v1.233 COA5 Sarah Leigh Publications for gene: COA5 were set to
Mitochondrial disorders v1.232 CEP89 Sarah Leigh Publications for gene: CEP89 were set to PMID: 23575228
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 TTN Louise Daugherty Source NHS GMS was added to TTN.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 SYNE2 Louise Daugherty Source NHS GMS was added to SYNE2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 SMCHD1 Louise Daugherty Source NHS GMS was added to SMCHD1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 POMK Louise Daugherty Source NHS GMS was added to POMK.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 POMGNT2 Louise Daugherty Source NHS GMS was added to POMGNT2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 LIMS2 Louise Daugherty Source NHS GMS was added to LIMS2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 ISPD Louise Daugherty Source NHS GMS was added to ISPD.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 HNRNPDL Louise Daugherty Source NHS GMS was added to HNRNPDL.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 GNE Louise Daugherty Source NHS GMS was added to GNE.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 DUX4 Louise Daugherty Source NHS GMS was added to DUX4.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 DES Louise Daugherty Source NHS GMS was added to DES.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 DAG1 Louise Daugherty Source NHS GMS was added to DAG1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 BVES Louise Daugherty Source NHS GMS was added to BVES.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 TTN Louise Daugherty Source South West GLH was added to TTN.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 SYNE2 Louise Daugherty Source South West GLH was added to SYNE2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 SMCHD1 Louise Daugherty Source South West GLH was added to SMCHD1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 POMK Louise Daugherty Source South West GLH was added to POMK.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 POMGNT2 Louise Daugherty Source South West GLH was added to POMGNT2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 LIMS2 Louise Daugherty Source South West GLH was added to LIMS2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 ISPD Louise Daugherty Source South West GLH was added to ISPD.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 HNRNPDL Louise Daugherty Source South West GLH was added to HNRNPDL.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 GNE Louise Daugherty Source South West GLH was added to GNE.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 DUX4 Louise Daugherty Source South West GLH was added to DUX4.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 DES Louise Daugherty Source South West GLH was added to DES.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 DAG1 Louise Daugherty Source South West GLH was added to DAG1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 BVES Louise Daugherty Source South West GLH was added to BVES.
Mitochondrial disorders v1.231 ATP5E Sarah Leigh Mode of inheritance for gene: ATP5E was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.230 ATP5E Sarah Leigh Publications for gene: ATP5E were set to PMID: 20566710
Mitochondrial disorders v1.229 ATP5E Sarah Leigh Phenotypes for gene: ATP5E were changed from ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 to ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 614053
Mitochondrial disorders v1.228 ATP5E Sarah Leigh Classified gene: ATP5E as Red List (low evidence)
Mitochondrial disorders v1.228 ATP5E Sarah Leigh Added comment: Comment on list classification: No additional variants have been reported to date.
Mitochondrial disorders v1.228 ATP5E Sarah Leigh Gene: atp5e has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.227 ATP5A1 Sarah Leigh Classified gene: ATP5A1 as Red List (low evidence)
Mitochondrial disorders v1.227 ATP5A1 Sarah Leigh Added comment: Comment on list classification: No additional variants have been reported to date.
Mitochondrial disorders v1.227 ATP5A1 Sarah Leigh Gene: atp5a1 has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.226 ATP5A1 Sarah Leigh Mode of inheritance for gene: ATP5A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.225 ATP5A1 Sarah Leigh Added comment: Comment on publications: PMID: 23599390 (two siblings with a severe neonatal encephalopathy caused by complex V deficiency);PMID: 23596069 (newborn female with failure to thrive, microcephaly, encephalopathy, IUGR, hypotonia, bacteremia, pulmonary hypertension, heart failure, and mitchondrial depletion).
Mitochondrial disorders v1.225 ATP5A1 Sarah Leigh Publications for gene: ATP5A1 were set to PMID: 23599390 (two siblings with a severe neonatal encephalopathy caused by complex V deficiency); PMID: 23596069 (newborn female with failure to thrive, microcephaly, encephalopathy, IUGR, hypotonia, bacteremia, pulmonary hypertension, heart failure, and mitchondrial depletion).
Congenital myopathy v1.108 DNAJB6 Louise Daugherty Phenotypes for gene: DNAJB6 were changed from Myofibrillar Myopathy, Dominant to Myofibrillar Myopathy, Dominant; Muscular dystrophy, limb-girdle, type 1E 603511
Congenital myopathy v1.107 TRIP4 Louise Daugherty Phenotypes for gene: TRIP4 were changed from to vacuolar myopathy?
Congenital myopathy v1.106 TRIP4 Louise Daugherty Publications for gene: TRIP4 were set to
Congenital myopathy v1.105 TRIP4 Louise Daugherty Mode of inheritance for gene: TRIP4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v1.104 TNNT3 Louise Daugherty Phenotypes for gene: TNNT3 were changed from Arthyrogryposis, distal, type 2B 601680 to Arthyrogryposis, distal, type 2B, 601680; Myopathy, congenital, Baily-Bloch, 255995
Congenital myopathy v1.103 TNNT3 Louise Daugherty Publications for gene: TNNT3 were set to
Congenital myopathy v1.102 TNNI2 Louise Daugherty Phenotypes for gene: TNNI2 were changed from Arthrogryposis multiplex congenita, distal, type 2B 601680 to Arthrogryposis multiplex congenita, distal, type 2B, 601680; Centronuclear myopathy 5, 615959
Congenital myopathy v1.101 TNNI2 Louise Daugherty Publications for gene: TNNI2 were set to 16924011; 16924011
Congenital myopathy v1.100 TNNC2 Louise Daugherty Publications for gene: TNNC2 were set to
Congenital myopathy v1.99 TNNC2 Louise Daugherty Phenotypes for gene: TNNC2 were changed from to severe congenital myopathy with congenital bone fractures, 616866
Congenital myopathy v1.98 TNNC2 Louise Daugherty Mode of inheritance for gene: TNNC2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy v1.97 SRPK3 Louise Daugherty Publications for gene: SRPK3 were set to
Congenital myopathy v1.96 SRPK3 Louise Daugherty Phenotypes for gene: SRPK3 were changed from to Central core disease, 117000; Minicore myopathy with external ophthalmoplegia, 255320; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000; Malignant hyperthermia susceptibility 1, 145600
Congenital myopathy v1.95 SRPK3 Louise Daugherty Mode of inheritance for gene: SRPK3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital myopathy v1.94 PIEZO2 Louise Daugherty Phenotypes for gene: PIEZO2 were changed from Arthrogryposis to Arthrogryposis; KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM
Congenital myopathy v1.93 PIEZO2 Louise Daugherty Publications for gene: PIEZO2 were set to
Congenital myopathy v1.92 MYBPC1 Louise Daugherty Phenotypes for gene: MYBPC1 were changed from Myopathy, Early-Onset, Areflexia, Respiratory Distress, andDysphagia; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4 614915 to Myopathy, Early-Onset, Areflexia, Respiratory Distress, and Dysphagia; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4 614915
Congenital myopathy v1.91 MYBPC1 Louise Daugherty Phenotypes for gene: MYBPC1 were changed from Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4 614915 to Myopathy, Early-Onset, Areflexia, Respiratory Distress, andDysphagia; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4 614915
Congenital myopathy v1.90 MYBPC1 Louise Daugherty Publications for gene: MYBPC1 were set to 20045868
Congenital myopathy v1.89 KLHL9 Louise Daugherty Phenotypes for gene: KLHL9 were changed from to Nemaline myopathy 8, autosomal recessive, 615348
Congenital myopathy v1.88 KLHL9 Louise Daugherty Publications for gene: KLHL9 were set to
Congenital myopathy v1.87 KLHL9 Louise Daugherty Mode of inheritance for gene: KLHL9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy v1.86 ECEL1 Louise Daugherty Phenotypes for gene: ECEL1 were changed from Arthrogryposis, distal, type 5D 615065 to Arthrogryposis, distal, type 5D 615065; Myopathy, centronuclear, 160150; Charcot-Marie-Tooth disease, axonal, type 2M, 606482
Mitochondrial disorders v1.224 ATP5A1 Sarah Leigh Deleted their review
Mitochondrial disorders v1.224 ATP5A1 Sarah Leigh Deleted their comment
Congenital myopathy v1.85 ECEL1 Louise Daugherty Publications for gene: ECEL1 were set to
Mitochondrial disorders v1.224 ATP5A1 Sarah Leigh commented on gene: ATP5A1
Congenital myopathy v1.84 DOK7 Louise Daugherty Phenotypes for gene: DOK7 were changed from Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090 to Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090
Congenital myopathy v1.83 DOK7 Louise Daugherty Phenotypes for gene: DOK7 were changed from to Bethlem myopathy, 158810; Ullrich congenital muscular dystrophy, 254090
Congenital myopathy v1.82 DOK7 Louise Daugherty Publications for gene: DOK7 were set to
Congenital myopathy v1.81 DOK7 Louise Daugherty Mode of inheritance for gene: DOK7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v1.80 ZC4H2 Louise Daugherty Phenotypes for gene: ZC4H2 were changed from CAP myopathy 2, 609285; Nemaline myopathy 4, autosomal dominant 609285; Arthrogryposis multiplex congenita, distal, type1 108120; Arthrogryposis, distal, type 2B 601680 to CAP myopathy 2, 609285; Nemaline myopathy 4, autosomal dominant 609285; Arthrogryposis multiplex congenita, distal, type1, 108120; Arthrogryposis, distal, type 2B, 601680
Congenital myopathy v1.79 ZC4H2 Louise Daugherty Phenotypes for gene: ZC4H2 were changed from to CAP myopathy 2, 609285; Nemaline myopathy 4, autosomal dominant 609285; Arthrogryposis multiplex congenita, distal, type1 108120; Arthrogryposis, distal, type 2B 601680
Congenital myopathy v1.78 ZC4H2 Louise Daugherty Publications for gene: ZC4H2 were set to
Congenital myopathy v1.77 ZC4H2 Louise Daugherty Mode of inheritance for gene: ZC4H2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital myopathy v1.76 MAP3K20 Louise Daugherty edited their review of gene: MAP3K20: Added comment: Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.; Changed rating: AMBER
Congenital myopathy v1.76 MYPN Louise Daugherty reviewed gene: MYPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 TRIP4 Louise Daugherty reviewed gene: TRIP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 CASQ1 Louise Daugherty reviewed gene: CASQ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 TNNC2 Louise Daugherty reviewed gene: TNNC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 ACTN2 Louise Daugherty reviewed gene: ACTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 ZC4H2 Louise Daugherty reviewed gene: ZC4H2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 VPS33B Louise Daugherty reviewed gene: VPS33B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 VMA21 Louise Daugherty reviewed gene: VMA21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 TTN Louise Daugherty reviewed gene: TTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 TPM3 Louise Daugherty reviewed gene: TPM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 TPM2 Louise Daugherty reviewed gene: TPM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 TNNT3 Louise Daugherty reviewed gene: TNNT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 TNNT1 Louise Daugherty reviewed gene: TNNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 TNNI2 Louise Daugherty reviewed gene: TNNI2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 STIM1 Louise Daugherty reviewed gene: STIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 STAC3 Louise Daugherty reviewed gene: STAC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 SRPK3 Louise Daugherty reviewed gene: SRPK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 SPEG Louise Daugherty reviewed gene: SPEG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 SELENON Louise Daugherty edited their review of gene: SELENON: Added comment: Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.; Changed rating: AMBER
Congenital myopathy v1.76 SCN4A Louise Daugherty reviewed gene: SCN4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 RYR1 Louise Daugherty reviewed gene: RYR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 PIEZO2 Louise Daugherty reviewed gene: PIEZO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 ORAI1 Louise Daugherty reviewed gene: ORAI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 NEB Louise Daugherty reviewed gene: NEB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 MYO18B Louise Daugherty reviewed gene: MYO18B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 MYL1 Louise Daugherty reviewed gene: MYL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 MYH8 Louise Daugherty reviewed gene: MYH8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 MYH7 Louise Daugherty reviewed gene: MYH7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 MYH3 Louise Daugherty reviewed gene: MYH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 MYH2 Louise Daugherty reviewed gene: MYH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 MYBPC3 Louise Daugherty reviewed gene: MYBPC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 MYBPC1 Louise Daugherty reviewed gene: MYBPC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 MTMR14 Louise Daugherty reviewed gene: MTMR14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 MTM1 Louise Daugherty reviewed gene: MTM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 MEGF10 Louise Daugherty reviewed gene: MEGF10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 LMOD3 Louise Daugherty reviewed gene: LMOD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 LAMP2 Louise Daugherty reviewed gene: LAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 KLHL9 Louise Daugherty reviewed gene: KLHL9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 KLHL41 Louise Daugherty reviewed gene: KLHL41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 KLHL40 Louise Daugherty reviewed gene: KLHL40: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 KBTBD13 Louise Daugherty reviewed gene: KBTBD13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 HACD1 Louise Daugherty reviewed gene: HACD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 EPG5 Louise Daugherty reviewed gene: EPG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 ECEL1 Louise Daugherty reviewed gene: ECEL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 DOK7 Louise Daugherty reviewed gene: DOK7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 DNM2 Louise Daugherty reviewed gene: DNM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 COL6A3 Louise Daugherty reviewed gene: COL6A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 COL6A2 Louise Daugherty reviewed gene: COL6A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 COL6A1 Louise Daugherty reviewed gene: COL6A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 COL12A1 Louise Daugherty reviewed gene: COL12A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 CNTN1 Louise Daugherty reviewed gene: CNTN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 CFL2 Louise Daugherty reviewed gene: CFL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 CCDC78 Louise Daugherty reviewed gene: CCDC78: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 CACNA1S Louise Daugherty reviewed gene: CACNA1S: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 BIN1 Louise Daugherty reviewed gene: BIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.76 ACTA1 Louise Daugherty reviewed gene: ACTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.230 COG4 Rebecca Foulger Phenotypes for gene: COG4 were changed from COG4-CDG to COG4-CDG; Saul-Wilson syndrome, 618150
Congenital myopathy v1.75 MAP3K20 Rachael Mein reviewed gene: MAP3K20: Rating: GREEN; Mode of pathogenicity: ; Publications: 23623388, 26056227; Phenotypes: Wieacker-Wolff syndrome, 314580; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 MYPN Rachael Mein reviewed gene: MYPN: Rating: GREEN; Mode of pathogenicity: ; Publications: 15052268, 16896922; Phenotypes: Arthrogryposis renal dysfunction, and cholestasis 1, 208085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 TRIP4 Rachael Mein reviewed gene: TRIP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23315026; Phenotypes: vacuolar myopathy?; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 CASQ1 Rachael Mein reviewed gene: CASQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17444505, 23975875, 28295036; Phenotypes: Myopathy, early-onset, with fatal cardiomyopathy, 611705; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.75 TNNC2 Rachael Mein reviewed gene: TNNC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26924529; Phenotypes: severe congenital myopathy with congenital bone fractures, 616866; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy v1.75 ACTN2 Rachael Mein reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24692096; Phenotypes: CAP myopathy 1, 609284, Myopathy, congenital, with fiber-type disproportion, 255310, Nemaline myopathy 1, autosomal dominant or recessive, 609284; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.75 ZC4H2 Rachael Mein reviewed gene: ZC4H2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12592607, 11738357, 17434307; Phenotypes: CAP myopathy 2, 609285, Nemaline myopathy 4, autosomal dominant 609285, Arthrogryposis multiplex congenita, distal, type1 108120: Arthrogryposis, distal, type 2B 601680; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Congenital myopathy v1.75 VPS33B Rachael Mein reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: ; Publications: 12865991, 17194691; Phenotypes: Arthyrogryposis, distal, type 2B, 601680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 VMA21 Rachael Mein reviewed gene: VMA21: Rating: GREEN; Mode of pathogenicity: ; Publications: 26296490, 25430424; Phenotypes: nemaline myopathy, Nemaline Myopathy, Recessive, Nemaline myopathy 5, Amish type, 605355; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Congenital myopathy v1.75 TTN Rachael Mein reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: ; Publications: 16924011, 16924011; Phenotypes: Arthrogryposis multiplex congenita, distal, type 2B, 601680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 TPM3 Rachael Mein reviewed gene: TPM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: congenital myopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v1.75 TPM2 Rachael Mein reviewed gene: TPM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23332920; Phenotypes: Myopathy, tubular aggregate, 160565; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 TNNT3 Rachael Mein reviewed gene: TNNT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 23736855, 28003463; Phenotypes: Myopathy, congenital, Baily-Bloch, 255995; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.75 TNNT1 Rachael Mein reviewed gene: TNNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nemaline myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.75 TNNI2 Rachael Mein reviewed gene: TNNI2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25087613; Phenotypes: Centronuclear myopathy 5, 615959; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.75 STIM1 Rachael Mein reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26780752, 16365872; Phenotypes: Muscular dystrophy, rigid spine, 1, 602771, Myopathy, congenital, with fiber-type disproportion, 255310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.75 STAC3 Rachael Mein reviewed gene: STAC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 26700687; Phenotypes: congenital myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes