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Neonatal diabetes v1.13 ZFP57 Ivone Leong reviewed gene: ZFP57: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 WFS1 Ivone Leong reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 STAT3 Ivone Leong reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 SLC2A2 Ivone Leong reviewed gene: SLC2A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 SLC19A2 Ivone Leong reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 RFX6 Ivone Leong reviewed gene: RFX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 PTF1A Ivone Leong reviewed gene: PTF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 PDX1 Ivone Leong reviewed gene: PDX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 NKX2-2 Ivone Leong reviewed gene: NKX2-2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 NEUROG3 Ivone Leong reviewed gene: NEUROG3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 NEUROD1 Ivone Leong reviewed gene: NEUROD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 MNX1 Ivone Leong reviewed gene: MNX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 LRBA Ivone Leong reviewed gene: LRBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 LPL Ivone Leong reviewed gene: LPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 KCNJ11 Ivone Leong reviewed gene: KCNJ11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 INSR Ivone Leong reviewed gene: INSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 INS Ivone Leong reviewed gene: INS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 IL2RA Ivone Leong reviewed gene: IL2RA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 IER3IP1 Ivone Leong reviewed gene: IER3IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 HNF1B Ivone Leong reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 GLIS3 Ivone Leong reviewed gene: GLIS3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 GCK Ivone Leong reviewed gene: GCK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 GATA6 Ivone Leong reviewed gene: GATA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 GATA4 Ivone Leong reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 FOXP3 Ivone Leong reviewed gene: FOXP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 EIF2S3 Ivone Leong reviewed gene: EIF2S3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 EIF2AK3 Ivone Leong reviewed gene: EIF2AK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 COQ9 Ivone Leong reviewed gene: COQ9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 COQ2 Ivone Leong reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 CISD2 Ivone Leong reviewed gene: CISD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 BSCL2 Ivone Leong reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 AGPAT2 Ivone Leong reviewed gene: AGPAT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.13 ABCC8 Ivone Leong reviewed gene: ABCC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neonatal diabetes v1.12 ZFP57 Ivone Leong Source NHS GMS was added to ZFP57.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 WFS1 Ivone Leong Source NHS GMS was added to WFS1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 STAT3 Ivone Leong Source NHS GMS was added to STAT3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 SLC2A2 Ivone Leong Source NHS GMS was added to SLC2A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 SLC19A2 Ivone Leong Source NHS GMS was added to SLC19A2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 RFX6 Ivone Leong Source NHS GMS was added to RFX6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 PTF1A Ivone Leong Source NHS GMS was added to PTF1A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 PDX1 Ivone Leong Source NHS GMS was added to PDX1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 NKX2-2 Ivone Leong Source NHS GMS was added to NKX2-2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 NEUROG3 Ivone Leong Source NHS GMS was added to NEUROG3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 NEUROD1 Ivone Leong Source NHS GMS was added to NEUROD1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 MNX1 Ivone Leong Source NHS GMS was added to MNX1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 LRBA Ivone Leong Source NHS GMS was added to LRBA.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 LPL Ivone Leong gene: LPL was added
gene: LPL was added to Diabetes - neonatal onset. Sources: NHS GMS
Mode of inheritance for gene: LPL was set to
Neonatal diabetes v1.12 KCNJ11 Ivone Leong Source NHS GMS was added to KCNJ11.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 INSR Ivone Leong Source NHS GMS was added to INSR.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 INS Ivone Leong Source NHS GMS was added to INS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 IL2RA Ivone Leong Source NHS GMS was added to IL2RA.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 IER3IP1 Ivone Leong Source NHS GMS was added to IER3IP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 HNF1B Ivone Leong Source NHS GMS was added to HNF1B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 GLIS3 Ivone Leong Source NHS GMS was added to GLIS3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 GCK Ivone Leong Source NHS GMS was added to GCK.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 GATA6 Ivone Leong Source NHS GMS was added to GATA6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 GATA4 Ivone Leong Source NHS GMS was added to GATA4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 FOXP3 Ivone Leong Source NHS GMS was added to FOXP3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 EIF2S3 Ivone Leong gene: EIF2S3 was added
gene: EIF2S3 was added to Diabetes - neonatal onset. Sources: NHS GMS
Mode of inheritance for gene: EIF2S3 was set to
Neonatal diabetes v1.12 EIF2AK3 Ivone Leong Source NHS GMS was added to EIF2AK3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 COQ9 Ivone Leong gene: COQ9 was added
gene: COQ9 was added to Diabetes - neonatal onset. Sources: NHS GMS
Mode of inheritance for gene: COQ9 was set to
Neonatal diabetes v1.12 COQ2 Ivone Leong gene: COQ2 was added
gene: COQ2 was added to Diabetes - neonatal onset. Sources: NHS GMS
Mode of inheritance for gene: COQ2 was set to
Neonatal diabetes v1.12 CISD2 Ivone Leong Source NHS GMS was added to CISD2.
Neonatal diabetes v1.12 BSCL2 Ivone Leong Source NHS GMS was added to BSCL2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Neonatal diabetes v1.12 AGPAT2 Ivone Leong Source NHS GMS was added to AGPAT2.
Neonatal diabetes v1.12 ABCC8 Ivone Leong Source NHS GMS was added to ABCC8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v0.43 TBP_CAG Louise Daugherty Classified STR: TBP_CAG as Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v0.43 TBP_CAG Louise Daugherty Str: tbp_cag has been classified as Green List (High Evidence).
Adult onset dystonia, chorea or related movement disorder v0.42 TBP_CAG Louise Daugherty STR: TBP_CAG was added
STR: TBP_CAG was added to Adult onset movement disorder. Sources: Expert list
STR tags were added to STR: TBP_CAG.
Mode of inheritance for STR: TBP_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: TBP_CAG were set to 20301611
Phenotypes for STR: TBP_CAG were set to Spinocerebellar ataxia 17 607136
Review for STR: TBP_CAG was set to GREEN
Added comment: Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64, Brain channelopathy v1.48
Sources: Expert list
Adult onset dystonia, chorea or related movement disorder v0.41 PPP2R2B_CAG Louise Daugherty Classified STR: PPP2R2B_CAG as Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v0.41 PPP2R2B_CAG Louise Daugherty Str: ppp2r2b_cag has been classified as Green List (High Evidence).
Adult onset dystonia, chorea or related movement disorder v0.40 PPP2R2B_CAG Louise Daugherty STR: PPP2R2B_CAG was added
STR: PPP2R2B_CAG was added to Adult onset movement disorder. Sources: Expert list
STR tags were added to STR: PPP2R2B_CAG.
Mode of inheritance for STR: PPP2R2B_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: PPP2R2B_CAG were set to Spinocerebellar ataxia 12 604326
Review for STR: PPP2R2B_CAG was set to GREEN
Added comment: Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64
Sources: Expert list
Adult onset dystonia, chorea or related movement disorder v0.39 CACNA1A_CAG Louise Daugherty Classified STR: CACNA1A_CAG as Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v0.39 CACNA1A_CAG Louise Daugherty Str: cacna1a_cag has been classified as Green List (High Evidence).
Adult onset dystonia, chorea or related movement disorder v0.38 CACNA1A_CAG Louise Daugherty STR: CACNA1A_CAG was added
STR: CACNA1A_CAG was added to Adult onset movement disorder. Sources: Expert list
STR tags were added to STR: CACNA1A_CAG.
Mode of inheritance for STR: CACNA1A_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: CACNA1A_CAG were set to Spinocerebellar ataxia 6 183086
Review for STR: CACNA1A_CAG was set to GREEN
Added comment: Source PanelApp panels : Brain channelopathy v1.48
Sources: Expert list
Adult onset dystonia, chorea or related movement disorder v0.37 ATXN3_CAG Louise Daugherty Classified STR: ATXN3_CAG as Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v0.37 ATXN3_CAG Louise Daugherty Str: atxn3_cag has been classified as Green List (High Evidence).
Adult onset dystonia, chorea or related movement disorder v0.36 ATXN3_CAG Louise Daugherty STR: ATXN3_CAG was added
STR: ATXN3_CAG was added to Adult onset movement disorder. Sources: Expert list
STR tags were added to STR: ATXN3_CAG.
Mode of inheritance for STR: ATXN3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN3_CAG were set to Machado-Joseph disease 109150
Review for STR: ATXN3_CAG was set to GREEN
Added comment: Early onset dystonia v1.76, Parkinson Disease and Complex Parkinsonism v1.64
Sources: Expert list
Adult onset dystonia, chorea or related movement disorder v0.35 ATXN2_CAG Louise Daugherty Classified STR: ATXN2_CAG as Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v0.35 ATXN2_CAG Louise Daugherty Str: atxn2_cag has been classified as Green List (High Evidence).
Adult onset dystonia, chorea or related movement disorder v0.34 ATXN2_CAG Louise Daugherty STR: ATXN2_CAG was added
STR: ATXN2_CAG was added to Adult onset movement disorder. Sources: Expert list
STR tags were added to STR: ATXN2_CAG.
Mode of inheritance for STR: ATXN2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN2_CAG were set to Spinocerebellar ataxia 2 183090
Review for STR: ATXN2_CAG was set to GREEN
Added comment: Source PanelApp panels : Early onset dystonia v1.76, Parkinson Disease and Complex Parkinsonism v1.64
Sources: Expert list
Adult onset dystonia, chorea or related movement disorder v0.33 ATXN1_CAG Louise Daugherty Classified STR: ATXN1_CAG as Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v0.33 ATXN1_CAG Louise Daugherty Str: atxn1_cag has been classified as Green List (High Evidence).
Adult onset dystonia, chorea or related movement disorder v0.32 ATXN1_CAG Louise Daugherty STR: ATXN1_CAG was added
STR: ATXN1_CAG was added to Adult onset movement disorder. Sources: Expert list
STR tags were added to STR: ATXN1_CAG.
Mode of inheritance for STR: ATXN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN1_CAG were set to Spinocerebellar ataxia 1 164400
Review for STR: ATXN1_CAG was set to GREEN
Added comment: Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64
Sources: Expert list
Adult onset dystonia, chorea or related movement disorder v0.31 JPH3_CTG Louise Daugherty Classified STR: JPH3_CTG as Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v0.31 JPH3_CTG Louise Daugherty Str: jph3_ctg has been classified as Green List (High Evidence).
Adult onset dystonia, chorea or related movement disorder v0.31 JPH3_CTG Louise Daugherty Classified STR: JPH3_CTG as Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v0.31 JPH3_CTG Louise Daugherty Str: jph3_ctg has been classified as Green List (High Evidence).
Adult onset dystonia, chorea or related movement disorder v0.30 JPH3_CTG Louise Daugherty STR: JPH3_CTG was added
STR: JPH3_CTG was added to Adult onset movement disorder. Sources: Expert list
STR tags were added to STR: JPH3_CTG.
Mode of inheritance for STR: JPH3_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: JPH3_CTG were set to Huntington disease-like 2 606438
Review for STR: JPH3_CTG was set to GREEN
Added comment: Source PanelApp panels : Early onset dystonia v1.76, Parkinson Disease and Complex Parkinsonism v1.6
Sources: Expert list
Adult onset dystonia, chorea or related movement disorder v0.29 HTT_CAG Louise Daugherty Classified STR: HTT_CAG as Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v0.29 HTT_CAG Louise Daugherty Str: htt_cag has been classified as Green List (High Evidence).
Adult onset dystonia, chorea or related movement disorder v0.28 HTT_CAG Louise Daugherty STR: HTT_CAG was added
STR: HTT_CAG was added to Adult onset movement disorder. Sources: Expert list
STR tags were added to STR: HTT_CAG.
Mode of inheritance for STR: HTT_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HTT_CAG were set to 24256063
Phenotypes for STR: HTT_CAG were set to Huntington disease 143100
Review for STR: HTT_CAG was set to GREEN
Added comment: Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64
Sources: Expert list
Non-acute porphyrias v0.7 ALAS2 Ivone Leong Source Other was added to ALAS2.
Mode of inheritance for gene ALAS2 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mode of pathogenicity for gene ALAS2 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
Added phenotypes Protoporphyria, erythropoietic, X-linked, 300752; Anemia, sideroblastic, X-linked, 300751 for gene: ALAS2
Publications for gene ALAS2 were changed from to 18760763; 23263862
Non-acute porphyrias v0.7 CPOX Ivone Leong Source Other was added to CPOX.
Mode of inheritance for gene CPOX was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Harderoporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias); Coproporphyria 121300 for gene: CPOX
Publications for gene CPOX were changed from to 27604308
Non-acute porphyrias v0.7 UROD Ivone Leong Source Other was added to UROD.
Mode of inheritance for gene UROD was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) for gene: UROD
Publications for gene UROD were changed from to 27604308
Non-acute porphyrias v0.7 FECH Ivone Leong Source Other was added to FECH.
Mode of inheritance for gene FECH was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Erythropoietic Protoporphyria; Protoporphyria, erythropoietic, autosomal recessive, 177000 for gene: FECH
Non-acute porphyrias v0.7 UROS Ivone Leong Source Other was added to UROS.
Mode of inheritance for gene UROS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Porphyria, congenital erythropoietic 263700; Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis) for gene: UROS
Publications for gene UROS were changed from to 27604308
Non-acute porphyrias v0.7 ALAD Ivone Leong Source Other was added to ALAD.
Mode of inheritance for gene ALAD was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Porphyria, acute hepatic 612740; {Lead poisoning, susceptibility to} 612740; Acute hepatic porphyria (Acute neuropathic porphyrias) for gene: ALAD
Publications for gene ALAD were changed from to 27604308
Non-acute porphyrias v0.7 PPOX Ivone Leong Source Other was added to PPOX.
Mode of inheritance for gene PPOX was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Variegate porphyria (Acute neuropathic porphyrias); Porphyria variegata 176200 for gene: PPOX
Publications for gene PPOX were changed from to 27604308; 19460837; 9811936
Non-acute porphyrias v0.7 HMBS Ivone Leong Source Other was added to HMBS.
Mode of inheritance for gene HMBS was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Porphyria, acute intermittent, nonerythroid variant, 176000; Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, 176000 for gene: HMBS
Publications for gene HMBS were changed from to 27604308
Adult onset dystonia, chorea or related movement disorder v0.27 CSTB_CCCCGCCCCGCG Louise Daugherty Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v0.27 CSTB_CCCCGCCCCGCG Louise Daugherty Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Adult onset dystonia, chorea or related movement disorder v0.26 CSTB_CCCCGCCCCGCG Louise Daugherty Chromosome for CSTB_CCCCGCCCCGCG was changed from 12 to 21. Panel: Adult onset movement disorder
Adult onset dystonia, chorea or related movement disorder v0.25 CSTB_CCCCGCCCCGCG Louise Daugherty STR: CSTB_CCCCGCCCCGCG was added
STR: CSTB_CCCCGCCCCGCG was added to Adult onset movement disorder. Sources: Expert list
STR tags were added to STR: CSTB_CCCCGCCCCGCG.
Mode of inheritance for STR: CSTB_CCCCGCCCCGCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for STR: CSTB_CCCCGCCCCGCG were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
Review for STR: CSTB_CCCCGCCCCGCG was set to GREEN
Added comment: Source PanelApp panels : Brain channelopathy v1.48
Sources: Expert list
Congenital hyperinsulinism v1.6 TRMT10A Ivone Leong reviewed gene: TRMT10A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 SLC16A1 Ivone Leong reviewed gene: SLC16A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 PMM2 Ivone Leong reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 MAFA Ivone Leong reviewed gene: MAFA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 KMT2D Ivone Leong reviewed gene: KMT2D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 KDM6A Ivone Leong reviewed gene: KDM6A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 KCNJ11 Ivone Leong reviewed gene: KCNJ11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 INSR Ivone Leong reviewed gene: INSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 HNF4A Ivone Leong reviewed gene: HNF4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 HNF1A Ivone Leong reviewed gene: HNF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 HADH Ivone Leong reviewed gene: HADH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 GPC3 Ivone Leong reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 GLUD1 Ivone Leong reviewed gene: GLUD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 GCK Ivone Leong reviewed gene: GCK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 FOXA2 Ivone Leong reviewed gene: FOXA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 CACNA1D Ivone Leong reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 AKT2 Ivone Leong reviewed gene: AKT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hyperinsulinism v1.6 ABCC8 Ivone Leong reviewed gene: ABCC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital hypothyroidism v1.10 CDCA8 Martina Owens gene: CDCA8 was added
gene: CDCA8 was added to Congenital hypothyroidism. Sources: Literature
Mode of inheritance for gene: CDCA8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CDCA8 were set to 28025328; 29546359
Phenotypes for gene: CDCA8 were set to Congenital hypothyroidism; thyroid dysgenesis
Penetrance for gene: CDCA8 were set to unknown
Mode of pathogenicity for gene: CDCA8 was set to Other
Review for gene: CDCA8 was set to AMBER
Added comment: Carre et al 2017 (PMID: 28025328) - Whole-exome sequencing of familial cases with thyroid dysgenesis: biallelic missense variants were found in 2 cases of one consanguineous family, and monoallelic variants in 2 other sporadic cases. Zou et al 2018 (PMID: 29546359) monallelic splice variant identified in patient with thyroid dysgenesis. Mechanistic role of CDCA8 in thyroid dysgenesis is still unclear.
Sources: Literature
Adult onset dystonia, chorea or related movement disorder v0.24 C9orf72_GGGGCC Louise Daugherty Classified STR: C9orf72_GGGGCC as Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v0.24 C9orf72_GGGGCC Louise Daugherty Str: c9orf72_ggggcc has been classified as Green List (High Evidence).
Adult onset dystonia, chorea or related movement disorder v0.23 C9orf72_GGGGCC Louise Daugherty STR: C9orf72_GGGGCC was added
STR: C9orf72_GGGGCC was added to Adult onset movement disorder. Sources: Expert list
STR tags were added to STR: C9orf72_GGGGCC.
Mode of inheritance for STR: C9orf72_GGGGCC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: C9orf72_GGGGCC were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550
Review for STR: C9orf72_GGGGCC was set to GREEN
Added comment: Source PanelApp panels : Early onset dystonia v1.76, Parkinson Disease and Complex Parkinsonism v1.6
Sources: Expert list
Skeletal Muscle Channelopathies v1.11 CNBP_CCTG Louise Daugherty edited their review of STR: CNBP_CCTG: Changed rating: RED
Skeletal Muscle Channelopathies v1.11 CNBP_CCTG Louise Daugherty commented on STR: CNBP_CCTG
Congenital hypothyroidism v1.10 TBL1X Martina Owens reviewed gene: TBL1X: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27603907, 30591955; 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)
Cholestasis v0.5 USP53 Anna de Burca reviewed gene: USP53: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 30250217; Phenotypes: Paediatric cholestatic liver disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.5 GNAS Anna de Burca Deleted their comment
Cholestasis v0.5 GNAS Anna de Burca Deleted their comment
Cholestasis v0.5 GNAS Anna de Burca Deleted their comment
Adult onset dystonia, chorea or related movement disorder v0.22 ATN1_CAG Louise Daugherty Classified STR: ATN1_CAG as Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v0.22 ATN1_CAG Louise Daugherty Str: atn1_cag has been classified as Green List (High Evidence).
Adult onset dystonia, chorea or related movement disorder v0.21 ATN1_CAG Louise Daugherty Phenotypes for STR: ATN1_CAG were changed from Dentatorubro-pallidoluysian atrophy 125370 to Dentatorubro-pallidoluysian atrophy 125370
Adult onset dystonia, chorea or related movement disorder v0.20 ATN1_CAG Louise Daugherty STR: ATN1_CAG was added
STR: ATN1_CAG was added to Adult onset movement disorder. Sources: Expert list
STR tags were added to STR: ATN1_CAG.
Mode of inheritance for STR: ATN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ATN1_CAG were set to 20301664; 8136840; 20301664; 8136840; 8136826; 7614090
Phenotypes for STR: ATN1_CAG were set to Dentatorubro-pallidoluysian atrophy 125370
Added comment: Source PanelApp panels : Early onset dystonia v1.76, Parkinson Disease and Complex Parkinsonism v1.64, Brain channelopathy v1.48
Sources: Expert list
Ductal plate malformation v1.6 DNAJB11 Ivone Leong Classified gene: DNAJB11 as Green List (high evidence)
Ductal plate malformation v1.6 DNAJB11 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. PMID: 29706351 showed 7 unrelated families with polycystic kidney disease with variants in DNAJB11 and 5 of these families have a polycystic liver phenotype.
Ductal plate malformation v1.6 DNAJB11 Ivone Leong Gene: dnajb11 has been classified as Green List (High Evidence).
Ductal plate malformation v1.5 DNAJB11 Ivone Leong Mode of inheritance for gene: DNAJB11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ductal plate malformation v1.4 DNAJB11 Ivone Leong Publications for gene: DNAJB11 were set to
Congenital hyperinsulinism v1.5 TRMT10A Ivone Leong Source NHS GMS was added to TRMT10A.
Congenital hyperinsulinism v1.5 SLC16A1 Ivone Leong Source NHS GMS was added to SLC16A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital hyperinsulinism v1.5 PMM2 Ivone Leong gene: PMM2 was added
gene: PMM2 was added to Congenital hyperinsulinism. Sources: NHS GMS
Mode of inheritance for gene: PMM2 was set to
Congenital hyperinsulinism v1.5 MAFA Ivone Leong gene: MAFA was added
gene: MAFA was added to Congenital hyperinsulinism. Sources: NHS GMS
Mode of inheritance for gene: MAFA was set to
Congenital hyperinsulinism v1.5 KMT2D Ivone Leong gene: KMT2D was added
gene: KMT2D was added to Congenital hyperinsulinism. Sources: NHS GMS
Mode of inheritance for gene: KMT2D was set to
Congenital hyperinsulinism v1.5 KDM6A Ivone Leong gene: KDM6A was added
gene: KDM6A was added to Congenital hyperinsulinism. Sources: NHS GMS
Mode of inheritance for gene: KDM6A was set to
Congenital hyperinsulinism v1.5 KCNJ11 Ivone Leong Source NHS GMS was added to KCNJ11.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital hyperinsulinism v1.5 INSR Ivone Leong Source NHS GMS was added to INSR.
Congenital hyperinsulinism v1.5 HNF4A Ivone Leong Source NHS GMS was added to HNF4A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital hyperinsulinism v1.5 HNF1A Ivone Leong Source NHS GMS was added to HNF1A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital hyperinsulinism v1.5 HADH Ivone Leong Source NHS GMS was added to HADH.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital hyperinsulinism v1.5 GPC3 Ivone Leong gene: GPC3 was added
gene: GPC3 was added to Congenital hyperinsulinism. Sources: NHS GMS
Mode of inheritance for gene: GPC3 was set to
Congenital hyperinsulinism v1.5 GLUD1 Ivone Leong Source NHS GMS was added to GLUD1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital hyperinsulinism v1.5 GCK Ivone Leong Source NHS GMS was added to GCK.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital hyperinsulinism v1.5 FOXA2 Ivone Leong gene: FOXA2 was added
gene: FOXA2 was added to Congenital hyperinsulinism. Sources: NHS GMS
Mode of inheritance for gene: FOXA2 was set to
Congenital hyperinsulinism v1.5 CACNA1D Ivone Leong gene: CACNA1D was added
gene: CACNA1D was added to Congenital hyperinsulinism. Sources: NHS GMS
Mode of inheritance for gene: CACNA1D was set to
Congenital hyperinsulinism v1.5 AKT2 Ivone Leong gene: AKT2 was added
gene: AKT2 was added to Congenital hyperinsulinism. Sources: NHS GMS
Mode of inheritance for gene: AKT2 was set to
Congenital hyperinsulinism v1.5 ABCC8 Ivone Leong Source NHS GMS was added to ABCC8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Amelogenesis imperfecta v1.7 RELT Claire Smith gene: RELT was added
gene: RELT was added to Amelogenesis imperfecta. Sources: Literature
Mode of inheritance for gene: RELT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RELT were set to PMID: 30506946
Phenotypes for gene: RELT were set to amelogenesis imperfecta (hypoplastic)
Penetrance for gene: RELT were set to Complete
Review for gene: RELT was set to GREEN
Added comment: PMID: 30506946 present evidence of three consanguineous Turkish families with irregular hypoplastic amelogenesis imperfecta. The authors also present a Relt-/- mouse model with incisor and molar enamel malformations. RELT should be included as a causative gene in diagnostic panels for AR AI in future.
Sources: Literature
Monogenic diabetes v0.8 ZFP57 Ivone Leong reviewed gene: ZFP57: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 ZBTB20 Ivone Leong reviewed gene: ZBTB20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 WFS1 Ivone Leong reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 TRMT10A Ivone Leong reviewed gene: TRMT10A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 SLC29A3 Ivone Leong reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 RFX6 Ivone Leong reviewed gene: RFX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 PPP1R15B Ivone Leong reviewed gene: PPP1R15B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 PPARG Ivone Leong reviewed gene: PPARG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 POLD1 Ivone Leong reviewed gene: POLD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 PLIN1 Ivone Leong reviewed gene: PLIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 PIK3R1 Ivone Leong reviewed gene: PIK3R1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 PDX1 Ivone Leong reviewed gene: PDX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 PCBD1 Ivone Leong reviewed gene: PCBD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 PAX6 Ivone Leong reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 NEUROD1 Ivone Leong reviewed gene: NEUROD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 MT-TL1 Ivone Leong reviewed gene: MT-TL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 LMNA Ivone Leong reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 KCNJ11 Ivone Leong reviewed gene: KCNJ11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 INSR Ivone Leong reviewed gene: INSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 INS Ivone Leong reviewed gene: INS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 HNF4A Ivone Leong reviewed gene: HNF4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 HNF1B Ivone Leong reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 HNF1A Ivone Leong reviewed gene: HNF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 GCK Ivone Leong reviewed gene: GCK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 GATA6 Ivone Leong reviewed gene: GATA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 GATA4 Ivone Leong reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 DYRK1B Ivone Leong reviewed gene: DYRK1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 DNAJC3 Ivone Leong reviewed gene: DNAJC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 DCAF17 Ivone Leong reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 CISD2 Ivone Leong reviewed gene: CISD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 CEL Ivone Leong reviewed gene: CEL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 APPL1 Ivone Leong reviewed gene: APPL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 AKT2 Ivone Leong reviewed gene: AKT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.8 ABCC8 Ivone Leong reviewed gene: ABCC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic diabetes v0.7 ZFP57 Ivone Leong Source NHS GMS was added to ZFP57.
Monogenic diabetes v0.7 ZBTB20 Ivone Leong Source NHS GMS was added to ZBTB20.
Monogenic diabetes v0.7 WFS1 Ivone Leong Source NHS GMS was added to WFS1.
Monogenic diabetes v0.7 TRMT10A Ivone Leong Source NHS GMS was added to TRMT10A.
Monogenic diabetes v0.7 SLC29A3 Ivone Leong Source NHS GMS was added to SLC29A3.
Monogenic diabetes v0.7 RFX6 Ivone Leong Source NHS GMS was added to RFX6.
Monogenic diabetes v0.7 PPP1R15B Ivone Leong gene: PPP1R15B was added
gene: PPP1R15B was added to Monogenic diabetes. Sources: NHS GMS
Mode of inheritance for gene: PPP1R15B was set to
Monogenic diabetes v0.7 PPARG Ivone Leong Source NHS GMS was added to PPARG.
Monogenic diabetes v0.7 POLD1 Ivone Leong Source NHS GMS was added to POLD1.
Monogenic diabetes v0.7 PLIN1 Ivone Leong Source NHS GMS was added to PLIN1.
Monogenic diabetes v0.7 PIK3R1 Ivone Leong Source NHS GMS was added to PIK3R1.
Monogenic diabetes v0.7 PDX1 Ivone Leong Source NHS GMS was added to PDX1.
Monogenic diabetes v0.7 PCBD1 Ivone Leong Source NHS GMS was added to PCBD1.
Monogenic diabetes v0.7 PAX6 Ivone Leong gene: PAX6 was added
gene: PAX6 was added to Monogenic diabetes. Sources: NHS GMS
Mode of inheritance for gene: PAX6 was set to
Monogenic diabetes v0.7 NEUROD1 Ivone Leong Source NHS GMS was added to NEUROD1.
Monogenic diabetes v0.7 MT-TL1 Ivone Leong Source NHS GMS was added to MT-TL1.
Monogenic diabetes v0.7 LMNA Ivone Leong Source NHS GMS was added to LMNA.
Monogenic diabetes v0.7 KCNJ11 Ivone Leong Source NHS GMS was added to KCNJ11.
Monogenic diabetes v0.7 INSR Ivone Leong Source NHS GMS was added to INSR.
Monogenic diabetes v0.7 INS Ivone Leong Source NHS GMS was added to INS.
Monogenic diabetes v0.7 HNF4A Ivone Leong Source NHS GMS was added to HNF4A.
Monogenic diabetes v0.7 HNF1B Ivone Leong Source NHS GMS was added to HNF1B.
Monogenic diabetes v0.7 HNF1A Ivone Leong Source NHS GMS was added to HNF1A.
Monogenic diabetes v0.7 GCK Ivone Leong Source NHS GMS was added to GCK.
Monogenic diabetes v0.7 GATA6 Ivone Leong Source NHS GMS was added to GATA6.
Monogenic diabetes v0.7 GATA4 Ivone Leong Source NHS GMS was added to GATA4.
Monogenic diabetes v0.7 DYRK1B Ivone Leong gene: DYRK1B was added
gene: DYRK1B was added to Monogenic diabetes. Sources: NHS GMS
Mode of inheritance for gene: DYRK1B was set to
Monogenic diabetes v0.7 DNAJC3 Ivone Leong gene: DNAJC3 was added
gene: DNAJC3 was added to Monogenic diabetes. Sources: NHS GMS
Mode of inheritance for gene: DNAJC3 was set to
Monogenic diabetes v0.7 DCAF17 Ivone Leong Source NHS GMS was added to DCAF17.
Monogenic diabetes v0.7 CISD2 Ivone Leong Source NHS GMS was added to CISD2.
Monogenic diabetes v0.7 CEL Ivone Leong Source NHS GMS was added to CEL.
Monogenic diabetes v0.7 APPL1 Ivone Leong gene: APPL1 was added
gene: APPL1 was added to Monogenic diabetes. Sources: NHS GMS
Mode of inheritance for gene: APPL1 was set to
Monogenic diabetes v0.7 AKT2 Ivone Leong Source NHS GMS was added to AKT2.
Monogenic diabetes v0.7 ABCC8 Ivone Leong Source NHS GMS was added to ABCC8.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.25 AP2S1 Ivone Leong Marked gene: AP2S1 as ready
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.25 AP2S1 Ivone Leong Gene: ap2s1 has been classified as Green List (High Evidence).
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.25 AP2S1 Ivone Leong Classified gene: AP2S1 as Green List (high evidence)
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.25 AP2S1 Ivone Leong Added comment: Comment on list classification: Have given AP2S1 a green gene status as recommended by Treena Cranston's (Oxford) review.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.25 AP2S1 Ivone Leong Gene: ap2s1 has been classified as Green List (High Evidence).
Intracerebral calcification disorders v1.11 KIAA1161 Raquel Real gene: KIAA1161 was added
gene: KIAA1161 was added to Intracerebral calcification disorders. Sources: Literature
Mode of inheritance for gene: KIAA1161 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA1161 were set to PMID: 29910000; 30589467
Phenotypes for gene: KIAA1161 were set to Primary Familial Brain Calcification
Penetrance for gene: KIAA1161 were set to unknown
Review for gene: KIAA1161 was set to GREEN
Added comment: Yao et al (2018) identified 9 biallelic mutations in MYORG in 6 families with autosomal recessive Primary Familial Brain Calcification (PFBC) that co-segregated completely with the disease. MYORG mutations accounted for 46% of PFBC families with recessive mode of inheritance. No mutations were found in 1000 healthy controls. In a KO mouse model, brain calcium phosphate deposits could be observed. In a more recent study, Chen et al (2018) also identified 4 biallelic mutations segregating in 4 autosomal recessive PFBC families.
Sources: Literature
Adult onset neurodegenerative disorder v0.151 AIMP1 Louise Daugherty Added comment: Comment on phenotypes: amended phenotype name from OMIM
Adult onset neurodegenerative disorder v0.151 AIMP1 Louise Daugherty Phenotypes for gene: AIMP1 were changed from Leukodystrophy, hypomyelinating, 260600 to Leukodystrophy, hypomyelinating, 3, 260600
Adult onset neurodegenerative disorder v0.150 AIMP1 Louise Daugherty Phenotypes for gene: AIMP1 were changed from 260600 to Leukodystrophy, hypomyelinating, 260600
Familial hypoparathyroidism v1.10 TBX1 Ivone Leong Classified gene: TBX1 as Red List (low evidence)
Familial hypoparathyroidism v1.10 TBX1 Ivone Leong Added comment: Comment on list classification: PMID: 30137364 reports on 2 unrelated families who have hypoparathyroidism and have splice variants in the TBX1 gene that leads to exon skipping.
Familial hypoparathyroidism v1.10 TBX1 Ivone Leong Gene: tbx1 has been classified as Red List (Low Evidence).
Familial hypoparathyroidism v1.9 TBX1 Ivone Leong Publications for gene: TBX1 were set to PMID: 30137364
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.24 AP2S1 Ivone Leong Publications for gene: AP2S1 were set to PMID: 25162666; PMID: 28740527
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.23 AP2S1 Ivone Leong Phenotypes for gene: AP2S1 were changed from FHH3; Hypocalciuric hypercalcemia, type III, 600740 to Hypocalciuric hypercalcemia, type III, 600740
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.22 AP2S1 Ivone Leong Mode of inheritance for gene: AP2S1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.21 AP2S1 Ivone Leong Phenotypes for gene: AP2S1 were changed from FHH3 to FHH3; Hypocalciuric hypercalcemia, type III, 600740
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.20 RET Ivone Leong Phenotypes for gene: RET were changed from Multiple endocrine neoplasia IIB (162300); Multiple endocrine neoplasia IIA (171400) to Multiple endocrine neoplasia IIB (162300); Multiple endocrine neoplasia IIA (171400)/MEN3
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.19 RET Ivone Leong Publications for gene: RET were set to
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.18 MEN1 Ivone Leong Phenotypes for gene: MEN1 were changed from Multiple endocrine neoplasia 1 (131100) to Multiple endocrine neoplasia 1 (131100); Familial isolated hyperparathyroidism
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.17 MEN1 Ivone Leong Publications for gene: MEN1 were set to
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.16 GCM2 Ivone Leong Publications for gene: GCM2 were set to 27745835; 29264504; 14715834
Epidermolysis bullosa and congenital skin fragility v0.11 DSG3 John McGrath reviewed gene: DSG3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.15 CDKN1B Ivone Leong Publications for gene: CDKN1B were set to
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.14 CASR Ivone Leong Phenotypes for gene: CASR were changed from Hyperparathyroidism, neonatal (239200); Hypocalcemia, autosomal dominant (601198) to Hyperparathyroidism, neonatal (239200); Hypocalcemia, autosomal dominant (601198); Familial isolated hyperparathyroidism; FHH1
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.13 CASR Ivone Leong Publications for gene: CASR were set to 15292296; 7916660; 9253359; 8675635
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.12 CDC73 Ivone Leong Publications for gene: CDC73 were set to 12434154; 15531515
Familial hypoparathyroidism v1.8 TBCE Treena Cranston reviewed gene: TBCE: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Familial hypoparathyroidism v1.8 TBX1 Treena Cranston gene: TBX1 was added
gene: TBX1 was added to Familial hypoparathyroidism. Sources: Other
Mode of inheritance for gene: TBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBX1 were set to PMID: 30137364
Penetrance for gene: TBX1 were set to unknown
Review for gene: TBX1 was set to RED
Added comment: Red evidence to date but recent publication of this gene (PMID: 30137364) showing association with isolated hypoparathyroidism. Too early for diagnostic panels but of interest for research, so flagging for future consideration
Sources: Other
Adult onset dystonia, chorea or related movement disorder v0.19 PDP1 Louise Daugherty Phenotypes for gene: PDP1 were changed from to Pyruvate dehydrogenase phosphatase deficiency, 608782
Structural basal ganglia disorders v1.11 PDP1 Louise Daugherty Phenotypes for gene: PDP1 were changed from to Pyruvate dehydrogenase phosphatase deficiency, 608782
Adult onset dystonia, chorea or related movement disorder v0.18 SDHA Louise Daugherty Phenotypes for gene: SDHA were changed from to Cardiomyopathy, dilated, 1GG, 613642; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDKN2C Treena Cranston reviewed gene: CDKN2C: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDKN2B Treena Cranston reviewed gene: CDKN2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Adult onset dystonia, chorea or related movement disorder v0.17 SUCLG1 Louise Daugherty Phenotypes for gene: SUCLG1 were changed from to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDKN1A Treena Cranston edited their review of gene: CDKN1A: Changed rating: RED
Adult onset dystonia, chorea or related movement disorder v0.16 SURF1 Louise Daugherty Phenotypes for gene: SURF1 were changed from to Charcot-Marie-Tooth disease, type 4K, 616684; Leigh syndrome, due to COX IV deficiency, 256000
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDKN1A Treena Cranston reviewed gene: CDKN1A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset dystonia, chorea or related movement disorder v0.15 BCS1L Louise Daugherty Phenotypes for gene: BCS1L were changed from to Bjornstad syndrome, 262000; Leigh syndrome, 256000; Mitochondrial complex III deficiency, nuclear type 1, 124000
Adult onset dystonia, chorea or related movement disorder v0.14 COX10 Louise Daugherty Phenotypes for gene: COX10 were changed from to Leigh syndrome due to mitochondrial COX4 deficiency, 256000; Mitochondrial complex IV deficiency, 220110
Adult onset dystonia, chorea or related movement disorder v0.13 COX15 Louise Daugherty Phenotypes for gene: COX15 were changed from to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119
Adult onset dystonia, chorea or related movement disorder v0.12 NDUFAF2 Louise Daugherty Phenotypes for gene: NDUFAF2 were changed from to Mitochondrial complex I deficiency, nuclear type 10, 618233
Adult onset dystonia, chorea or related movement disorder v0.11 NDUFS7 Louise Daugherty Phenotypes for gene: NDUFS7 were changed from to Mitochondrial complex I deficiency, nuclear type 3, 618224
Adult onset dystonia, chorea or related movement disorder v0.10 NDUFS8 Louise Daugherty Phenotypes for gene: NDUFS8 were changed from to Mitochondrial complex I deficiency, nuclear type 2, 618222
Adult onset dystonia, chorea or related movement disorder v0.9 NDUFV1 Louise Daugherty Phenotypes for gene: NDUFV1 were changed from to Mitochondrial complex I deficiency, 252010
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 AP2S1 Treena Cranston gene: AP2S1 was added
gene: AP2S1 was added to Familial hyperparathyroidism. Sources: Expert Review
Mode of inheritance for gene: AP2S1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AP2S1 were set to PMID: 25162666; PMID: 28740527
Phenotypes for gene: AP2S1 were set to FHH3
Penetrance for gene: AP2S1 were set to unknown
gene: AP2S1 was marked as current diagnostic
Added comment: pathogenic mutations affecting codon 15 of AP2S1 are causative of FHH3. There can be clinical overlap between hyperparathyroidism and FHH and as such AP2S1, which is a simple test should be considered as part of the differential diagnosis. In our own cohort of individuals referred for the hyperparathyroidism panel we have detected 2 individuals with pathogenic AP2S1 variants (unpublished).
Due to clinical overlap and clinical management of the different conditions, Inclusion of the FHH genes on hyperparathyroidism gene panel lists is a recommendation from an international workshop: Diagnosis of Asymptomatic Primary Hyperparathyroidism: Proceedings of the Fourth International Workshop PMID: 25162666
Sources: Expert Review
Ataxia and cerebellar anomalies - narrow panel v1.0 Louise Daugherty promoted panel to version 1.0
Likely inborn error of metabolism v1.34 PPA2 Louise Daugherty Phenotypes for gene: PPA2 were changed from to Sudden cardiac failure, infantile, 617222; Sudden cardiac failure, alcohol-induced, 617223
Undiagnosed metabolic disorders v1.84 PPA2 Louise Daugherty Phenotypes for gene: PPA2 were changed from to Sudden cardiac failure, infantile, 617222; Sudden cardiac failure, alcohol-induced, 617223
Likely inborn error of metabolism v1.33 PRKAG2 Louise Daugherty Phenotypes for gene: PRKAG2 were changed from to Cardiomyopathy, hypertrophic 6, 600858; Glycogen storage disease of heart, lethal congenital, 261740; Wolff-Parkinson-White syndrome, 194200
Hereditary ataxia v1.199 PRRT2 Louise Daugherty Phenotypes for gene: PRRT2 were changed from to Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Episodic kinesigenic dyskinesia 1, 128200; Seizures, benign familial infantile, 2, 605751
Ataxia and cerebellar anomalies - narrow panel v0.74 PRRT2 Louise Daugherty Phenotypes for gene: PRRT2 were changed from to Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Episodic kinesigenic dyskinesia 1, 128200; Seizures, benign familial infantile, 2, 605751
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 RET Treena Cranston reviewed gene: RET: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 28740527, PMID: 25162666; Phenotypes: MEN2A, MEN3/MEN2B; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Likely inborn error of metabolism v1.32 SLC17A5 Louise Daugherty Phenotypes for gene: SLC17A5 were changed from Salla disease, 604369 to Salla disease, 604369; Sialic acid storage disorder, infantile, 269920
Likely inborn error of metabolism v1.31 SLC17A5 Louise Daugherty Phenotypes for gene: SLC17A5 were changed from to Salla disease, 604369
Hereditary ataxia v1.198 SLC2A1 Louise Daugherty Phenotypes for gene: SLC2A1 were changed from to Dystonia 9, 601042; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777; GLUT1 deficiency syndrome 2, childhood onset, 612126; Stomatin-deficient cryohydrocytosis with neurologic defects, 608885
Ataxia and cerebellar anomalies - narrow panel v0.73 SLC2A1 Louise Daugherty Phenotypes for gene: SLC2A1 were changed from to Dystonia 9, 601042; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777; GLUT1 deficiency syndrome 2, childhood onset, 612126; Stomatin-deficient cryohydrocytosis with neurologic defects, 608885
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 GCM2 Treena Cranston reviewed gene: GCM2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 27745835, PMID: 29264504, PMID: 29199197; Phenotypes: hyperparathyroidism, hypoparathyroidism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Likely inborn error of metabolism v1.30 SMPD1 Louise Daugherty Phenotypes for gene: SMPD1 were changed from to Niemann-Pick disease, type A, 257200; Niemann-Pick disease, type B, 607616
Likely inborn error of metabolism v1.29 PHKA1 Louise Daugherty Phenotypes for gene: PHKA1 were changed from to Muscle glycogenosis, 300559
Likely inborn error of metabolism v1.28 NPC2 Louise Daugherty Phenotypes for gene: NPC2 were changed from to Niemann-Pick disease type C2, 607625
Ataxia and cerebellar anomalies - narrow panel v0.72 NPC2 Louise Daugherty Phenotypes for gene: NPC2 were changed from Niemann-Pick disease type C2 (#607625) to Niemann-Pick disease type C2, 607625
Likely inborn error of metabolism v1.27 CLN3 Louise Daugherty Phenotypes for gene: CLN3 were changed from to Ceroid lipofuscinosis, neuronal, 3, 204200
Likely inborn error of metabolism v1.26 CLN5 Louise Daugherty Phenotypes for gene: CLN5 were changed from to Ceroid lipofuscinosis, neuronal, 5, 256731
Likely inborn error of metabolism v1.25 CTH Louise Daugherty Phenotypes for gene: CTH were changed from to Cystathioninuria, 219500
Likely inborn error of metabolism v1.24 CTSD Louise Daugherty Phenotypes for gene: CTSD were changed from to Ceroid lipofuscinosis, neuronal, 10, 610127
Likely inborn error of metabolism v1.23 DNAJC5 Louise Daugherty Phenotypes for gene: DNAJC5 were changed from to Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350
Likely inborn error of metabolism v1.22 FAR1 Louise Daugherty Phenotypes for gene: FAR1 were changed from Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154 to Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154
Likely inborn error of metabolism v1.21 FAR1 Louise Daugherty Phenotypes for gene: FAR1 were changed from to Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154
Likely inborn error of metabolism v1.20 FUCA1 Louise Daugherty Phenotypes for gene: FUCA1 were changed from to Fucosidosis, 230000
Likely inborn error of metabolism v1.19 GAA Louise Daugherty Phenotypes for gene: GAA were changed from to Glycogen storage disease II, 232300
Likely inborn error of metabolism v1.18 GALK1 Louise Daugherty Phenotypes for gene: GALK1 were changed from to Galactokinase deficiency with cataracts, 230200
Likely inborn error of metabolism v1.17 GCDH Louise Daugherty Phenotypes for gene: GCDH were changed from to Glutaricaciduria, type I, 231670
Likely inborn error of metabolism v1.16 GLDC Louise Daugherty Phenotypes for gene: GLDC were changed from to Glycine encephalopathy, 605899
Likely inborn error of metabolism v1.15 GM2A Louise Daugherty Phenotypes for gene: GM2A were changed from to GM2-gangliosidosis, AB variant, 272750
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 MEN1 Treena Cranston reviewed gene: MEN1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25162666, PMID: 28740527; Phenotypes: MEN1, familial isolated hyperparathyroidism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDKN1B Treena Cranston reviewed gene: CDKN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25162666, PMID: 28740527; Phenotypes: MEN4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CASR Treena Cranston reviewed gene: CASR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25162666, PMID: 28740527; Phenotypes: familial isolated hyperparathyroidism, FHH1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
White matter disorders and cerebral calcification - narrow panel v1.5 L2HGDH Louise Daugherty Phenotypes for gene: L2HGDH were changed from L2-Hydroxyglutaric aciduria to L-2-hydroxyglutaric aciduria, 236792
Inherited white matter disorders v1.60 L2HGDH Louise Daugherty Phenotypes for gene: L2HGDH were changed from L2-Hydroxyglutaric aciduria to L-2-hydroxyglutaric aciduria, 236792
Likely inborn error of metabolism v1.14 L2HGDH Louise Daugherty Phenotypes for gene: L2HGDH were changed from to L-2-hydroxyglutaric aciduria, 236792
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDC73 Treena Cranston reviewed gene: CDC73: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20052758, PMID: 28740527; Phenotypes: Familial isolated hyperparathyroidism, Hyperparathyroidism Jaw Tumour syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Likely inborn error of metabolism v1.13 LMBRD1 Louise Daugherty Phenotypes for gene: LMBRD1 were changed from to Methylmalonic aciduria and homocystinuria, cblF type, 277380
Intellectual disability v2.595 LMBRD1 Louise Daugherty Phenotypes for gene: LMBRD1 were changed from Gene2Phenotype confirmed gene with ID HPO to Gene2Phenotype confirmed gene with ID HPO; Methylmalonic aciduria and homocystinuria, cblF type, 277380
Likely inborn error of metabolism v1.12 MCCC1 Louise Daugherty Phenotypes for gene: MCCC1 were changed from to 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200
Likely inborn error of metabolism v1.11 MCCC2 Louise Daugherty Phenotypes for gene: MCCC2 were changed from to 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210
Likely inborn error of metabolism v1.10 MFSD8 Louise Daugherty Phenotypes for gene: MFSD8 were changed from to Ceroid lipofuscinosis, neuronal, 7 61095
Hereditary ataxia with onset in adulthood v1.0 Louise Daugherty promoted panel to version 1.0
Adult onset neurodegenerative disorder v0.149 AAAS Louise Daugherty Phenotypes for gene: AAAS were changed from to Achalasia-addisonianism-alacrimia syndrome, 231550
Hereditary ataxia v1.197 AAAS Louise Daugherty Phenotypes for gene: AAAS were changed from to Achalasia-addisonianism-alacrimia syndrome, 231550
Hereditary ataxia with onset in adulthood v0.82 AAAS Louise Daugherty Phenotypes for gene: AAAS were changed from to Achalasia-addisonianism-alacrimia syndrome, 231550
Ataxia and cerebellar anomalies - narrow panel v0.71 AAAS Louise Daugherty Phenotypes for gene: AAAS were changed from to Achalasia-addisonianism-alacrimia syndrome, 231550
Ataxia and cerebellar anomalies - narrow panel v0.70 AP1S2 Louise Daugherty Phenotypes for gene: AP1S2 were changed from to Mental retardation, X-linked syndromic 5, 304340
Hereditary ataxia with onset in adulthood v0.81 AP1S2 Louise Daugherty Phenotypes for gene: AP1S2 were changed from to Mental retardation, X-linked syndromic 5, 304340
Hereditary ataxia v1.196 AP1S2 Louise Daugherty Phenotypes for gene: AP1S2 were changed from to Mental retardation, X-linked syndromic 5, 304340
Adult onset neurodegenerative disorder v0.148 AP1S2 Louise Daugherty Phenotypes for gene: AP1S2 were changed from Dystonia to Dystonia; Mental retardation, X-linked syndromic 5, 304340
Adult onset neurodegenerative disorder v0.147 CACNA1G Louise Daugherty Phenotypes for gene: CACNA1G were changed from to Spinocerebellar ataxia 42, 61679
Hereditary ataxia v1.195 CACNA1G Louise Daugherty Phenotypes for gene: CACNA1G were changed from to Spinocerebellar ataxia 42, 61679
Hereditary ataxia with onset in adulthood v0.80 CACNA1G Louise Daugherty Phenotypes for gene: CACNA1G were changed from to Spinocerebellar ataxia 42, 616795
Hereditary ataxia with onset in adulthood v0.79 CAMTA1 Louise Daugherty Phenotypes for gene: CAMTA1 were changed from Cerebellarataxia, nonprogressive, with mentalretardation, 614756 to Cerebellarataxia, nonprogressive, with mental retardation, 614756
Hereditary ataxia v1.194 CAMTA1 Louise Daugherty Phenotypes for gene: CAMTA1 were changed from Cerebellarataxia, nonprogressive, with mentalretardation, 614756 to Cerebellarataxia, nonprogressive, with mental retardation, 614756
Adult onset neurodegenerative disorder v0.146 CAMTA1 Louise Daugherty Phenotypes for gene: CAMTA1 were changed from Cerebellarataxia, nonprogressive, with mentalretardation, 614756 to Cerebellarataxia, nonprogressive, with mental retardation, 614756
Ataxia and cerebellar anomalies - narrow panel v0.69 CAMTA1 Louise Daugherty Phenotypes for gene: CAMTA1 were changed from Cerebellarataxia, nonprogressive, with mentalretardation, 614756 to Cerebellarataxia, nonprogressive, with mental retardation, 614756
Ataxia and cerebellar anomalies - narrow panel v0.68 CAMTA1 Louise Daugherty Phenotypes for gene: CAMTA1 were changed from Cerebellarataxia,nonprogressive,withmentalretardation,614756 3 to Cerebellarataxia, nonprogressive, with mentalretardation, 614756
Adult onset neurodegenerative disorder v0.145 CAMTA1 Louise Daugherty Phenotypes for gene: CAMTA1 were changed from Cerebellarataxia,nonprogressive,withmentalretardation,614756 3 to Cerebellarataxia, nonprogressive, with mentalretardation, 614756
Hereditary ataxia v1.193 CAMTA1 Louise Daugherty Phenotypes for gene: CAMTA1 were changed from Cerebellarataxia,nonprogressive,withmentalretardation,614756 3 to Cerebellarataxia, nonprogressive, with mentalretardation, 614756
Hereditary ataxia with onset in adulthood v0.78 CAMTA1 Louise Daugherty Phenotypes for gene: CAMTA1 were changed from Cerebellarataxia,nonprogressive,withmentalretardation,614756 3 to Cerebellarataxia, nonprogressive, with mentalretardation, 614756
Hereditary ataxia with onset in adulthood v0.77 CASK Louise Daugherty Phenotypes for gene: CASK were changed from to FG syndrome 4, 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
Hereditary ataxia v1.192 CASK Louise Daugherty Phenotypes for gene: CASK were changed from to FG syndrome 4, 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
Adult onset neurodegenerative disorder v0.144 CASK Louise Daugherty Phenotypes for gene: CASK were changed from to FG syndrome 4, 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
Ataxia and cerebellar anomalies - narrow panel v0.67 CHMP1A Louise Daugherty Publications for gene: CHMP1A were set to PMID: 23023333
Ataxia and cerebellar anomalies - narrow panel v0.66 CHMP1A Louise Daugherty Phenotypes for gene: CHMP1A were changed from Pontocerebellar Hypoplasia; Pontocerebellar Hypoplasia type 8; Pontocerebellar hypoplasia,type 8,614961; Pontocerebellar hypoplasia 8 (#614961) to Pontocerebellar hypoplasia, type 8, 614961
Adult onset neurodegenerative disorder v0.143 CHMP1A Louise Daugherty Phenotypes for gene: CHMP1A were changed from Pontocerebellar hypoplasia 8 (#614961) to Pontocerebellar hypoplasia, type 8, 614961
Hereditary ataxia v1.191 CHMP1A Louise Daugherty Phenotypes for gene: CHMP1A were changed from Pontocerebellar hypoplasia 8 (#614961) to Pontocerebellar hypoplasia, type 8, 614961
Hereditary ataxia with onset in adulthood v0.76 CHMP1A Louise Daugherty Phenotypes for gene: CHMP1A were changed from Pontocerebellar hypoplasia 8 (#614961) to Pontocerebellar hypoplasia, type 8, 614961
Likely inborn error of metabolism v1.9 CLN6 Louise Daugherty Phenotypes for gene: CLN6 were changed from to Ceroid lipofuscinosis, neuronal, 6, 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
Hereditary ataxia with onset in adulthood v0.75 CLN6 Louise Daugherty Phenotypes for gene: CLN6 were changed from Neuronal ceroid lipofuscinosis 6 (#601780) and adult onset form (#204300) to Ceroid lipofuscinosis, neuronal, 6, 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
Hereditary ataxia v1.190 CLN6 Louise Daugherty Phenotypes for gene: CLN6 were changed from Neuronal ceroid lipofuscinosis 6 (#601780) and adult onset form (#204300) to Ceroid lipofuscinosis, neuronal, 6, 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
Adult onset neurodegenerative disorder v0.142 CLN6 Louise Daugherty Phenotypes for gene: CLN6 were changed from Neuronal ceroid lipofuscinosis 6 (#601780) and adult onset form (#204300) to Ceroid lipofuscinosis, neuronal, 6, 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
Ataxia and cerebellar anomalies - narrow panel v0.65 CLN6 Louise Daugherty Phenotypes for gene: CLN6 were changed from Neuronal ceroid lipofuscinosis 6 (#601780) and adult onset form (#204300) to Ceroid lipofuscinosis, neuronal, 6, 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
Early onset or syndromic epilepsy v1.13 CLN6 Louise Daugherty Phenotypes for gene: CLN6 were changed from to Ceroid lipofuscinosis, neuronal, 6, 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
Hereditary ataxia with onset in adulthood v0.74 COQ8A Louise Daugherty Phenotypes for gene: COQ8A were changed from Coenzyme Q10 deficiency, primary 4, 612016; Spinocerebellar Ataxia Type to Coenzyme Q10 deficiency, primary 4, 612016; Spinocerebellar Ataxia Type
Adult solid tumours for rare disease v1.21 VHL Anna de Burca reviewed gene: VHL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28785532; Phenotypes: von Hippel-Lindau syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inherited white matter disorders v1.59 COQ8A Louise Daugherty Phenotypes for gene: COQ8A were changed from Coenzyme Q10 deficiency, primary, 4 to Coenzyme Q10 deficiency, primary 4, 612016; Spinocerebellar Ataxia Type
White matter disorders and cerebral calcification - narrow panel v1.4 COQ8A Louise Daugherty Phenotypes for gene: COQ8A were changed from Coenzyme Q10 deficiency, primary, 4 to Coenzyme Q10 deficiency, primary 4, 612016; Spinocerebellar Ataxia Type
Hereditary ataxia with onset in adulthood v0.73 COQ8A Louise Daugherty Phenotypes for gene: COQ8A were changed from Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type to Coenzyme Q10 deficiency, primary 4, 612016; Spinocerebellar Ataxia Type
Hereditary ataxia v1.189 COX20 Louise Daugherty Phenotypes for gene: COX20 were changed from to Mitochondrial complex IV deficiency, 220110
Hereditary ataxia with onset in adulthood v0.72 COX20 Louise Daugherty Phenotypes for gene: COX20 were changed from to Mitochondrial complex IV deficiency, 220110
Adult onset neurodegenerative disorder v0.141 COX20 Louise Daugherty Phenotypes for gene: COX20 were changed from to Mitochondrial complex IV deficiency, 220110
Ataxia and cerebellar anomalies - narrow panel v0.64 COX20 Louise Daugherty Phenotypes for gene: COX20 were changed from to Mitochondrial complex IV deficiency, 220110
Likely inborn error of metabolism v1.8 COX20 Louise Daugherty Phenotypes for gene: COX20 were changed from Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) to Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV Mitochondrial respiratory chain disorders caused by nuclear variants only; OXPHOS assembly factors
Early onset dystonia v1.78 CP Louise Daugherty Phenotypes for gene: CP were changed from Dystonia; Aceruloplasminemia to Dystonia; Aceruloplasminemia; Cerebellar ataxia, 604290; Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Likely inborn error of metabolism v1.7 CP Louise Daugherty Phenotypes for gene: CP were changed from Cerebellar ataxia to Cerebellar ataxia, 604290; Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Ataxia and cerebellar anomalies - narrow panel v0.63 CP Louise Daugherty Phenotypes for gene: CP were changed from Cerebellar ataxia, to Cerebellar ataxia, 604290; Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Adult onset neurodegenerative disorder v0.140 CP Louise Daugherty Phenotypes for gene: CP were changed from Dystonia; Aceruloplasminemia; Cerebellar ataxia, to Dystonia; Aceruloplasminemia; Cerebellar ataxia, 604290; Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Hereditary ataxia with onset in adulthood v0.71 CP Louise Daugherty Phenotypes for gene: CP were changed from Cerebellar ataxia, to Cerebellar ataxia, 604290; Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Hereditary ataxia v1.188 CP Louise Daugherty Phenotypes for gene: CP were changed from Cerebellar ataxia, to Cerebellar ataxia, 604290; Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Intellectual disability v2.594 CWF19L1 Louise Daugherty Publications for gene: CWF19L1 were set to 25361784
Hereditary ataxia v1.187 CWF19L1 Louise Daugherty Phenotypes for gene: CWF19L1 were changed from to Spinocerebellar ataxia, autosomal recessive 17, 616127
Hereditary ataxia with onset in adulthood v0.70 CWF19L1 Louise Daugherty Phenotypes for gene: CWF19L1 were changed from to Spinocerebellar ataxia, autosomal recessive 17, 616127
Adult onset neurodegenerative disorder v0.139 CWF19L1 Louise Daugherty Phenotypes for gene: CWF19L1 were changed from to Spinocerebellar ataxia, autosomal recessive 17, 616127
Intellectual disability v2.593 CWF19L1 Louise Daugherty Phenotypes for gene: CWF19L1 were changed from Spinocerebellar ataxia, autosomal recessive 17 (MIM 616127) to Spinocerebellar ataxia, autosomal recessive 17, 616127
Hereditary ataxia v1.186 CYP27A1 Louise Daugherty Publications for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis, 213700
Hereditary ataxia v1.185 CYP27A1 Louise Daugherty Phenotypes for gene: CYP27A1 were changed from to Cerebrotendinous xanthomatosis, 213700
Ataxia and cerebellar anomalies - narrow panel v0.62 CYP27A1 Louise Daugherty Phenotypes for gene: CYP27A1 were changed from to Cerebrotendinous xanthomatosis, 213700
White matter disorders and cerebral calcification - narrow panel v1.3 CYP27A1 Louise Daugherty Phenotypes for gene: CYP27A1 were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy; Cerebrotendinous xanthomatosis to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Cerebrotendinous xanthomatosis, 213700
Hereditary ataxia with onset in adulthood v0.69 CYP27A1 Louise Daugherty Phenotypes for gene: CYP27A1 were changed from to Cerebrotendinous xanthomatosis, 213700
Hereditary ataxia v1.184 CYP27A1 Louise Daugherty Publications for gene: CYP27A1 were set to
Likely inborn error of metabolism v1.6 CYP27A1 Louise Daugherty Phenotypes for gene: CYP27A1 were changed from Cerebrotendinous xanthomatosis to Cerebrotendinous xanthomatosis, 213700
Bilateral congenital or childhood onset cataracts v1.24 CYP27A1 Louise Daugherty Phenotypes for gene: CYP27A1 were changed from Cerebrotendinous xanthomatosis to Cerebrotendinous xanthomatosis, 213700
Inherited white matter disorders v1.58 CYP27A1 Louise Daugherty Phenotypes for gene: CYP27A1 were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy; Cerebrotendinous xanthomatosis to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Cerebrotendinous xanthomatosis, 213700
Inherited white matter disorders v1.57 DARS2 Louise Daugherty Phenotypes for gene: DARS2 were changed from Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL); General Leukodystrophy & Mitochondrial Leukoencephalopathy to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL); General Leukodystrophy & Mitochondrial Leukoencephalopathy; Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Ataxia and cerebellar anomalies - narrow panel v0.61 DARS2 Louise Daugherty Phenotypes for gene: DARS2 were changed from to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
White matter disorders and cerebral calcification - narrow panel v1.2 DARS2 Louise Daugherty Phenotypes for gene: DARS2 were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy; Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL); Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Adult onset neurodegenerative disorder v0.138 DARS2 Louise Daugherty Phenotypes for gene: DARS2 were changed from to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Hereditary ataxia with onset in adulthood v0.68 DARS2 Louise Daugherty Phenotypes for gene: DARS2 were changed from to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Hereditary ataxia v1.183 DARS2 Louise Daugherty Phenotypes for gene: DARS2 were changed from to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Hereditary ataxia v1.182 EXOSC3 Louise Daugherty Phenotypes for gene: EXOSC3 were changed from to Pontocerebellar hypoplasia, type 1B, 614678
Hereditary ataxia with onset in adulthood v0.67 EXOSC3 Louise Daugherty Phenotypes for gene: EXOSC3 were changed from to Pontocerebellar hypoplasia, type 1B, 614678
Adult onset neurodegenerative disorder v0.137 EXOSC3 Louise Daugherty Phenotypes for gene: EXOSC3 were changed from to Pontocerebellar hypoplasia, type 1B, 614678
White matter disorders and cerebral calcification - narrow panel v1.1 FOLR1 Louise Daugherty Phenotypes for gene: FOLR1 were changed from Neurodegeneration due to cerebral folate transport deficiency to Neurodegeneration due to cerebral folate transport deficiency, 613068
Adult onset neurodegenerative disorder v0.136 FOLR1 Louise Daugherty Phenotypes for gene: FOLR1 were changed from to Neurodegeneration due to cerebral folate transport deficiency, 613068
Hereditary ataxia with onset in adulthood v0.66 FOLR1 Louise Daugherty Phenotypes for gene: FOLR1 were changed from to Neurodegeneration due to cerebral folate transport deficiency, 613068
Hereditary ataxia v1.181 FOLR1 Louise Daugherty Phenotypes for gene: FOLR1 were changed from to Neurodegeneration due to cerebral folate transport deficiency, 613068
Ataxia and cerebellar anomalies - narrow panel v0.60 FOLR1 Louise Daugherty Phenotypes for gene: FOLR1 were changed from to Neurodegeneration due to cerebral folate transport deficiency, 613068
Childhood onset hereditary spastic paraplegia v0.57 GBA2 Louise Daugherty Phenotypes for gene: GBA2 were changed from Spastic paraplegia 46, autosomal recessive to Spastic paraplegia 46, autosomal recessive, 614409
Ataxia and cerebellar anomalies - narrow panel v0.59 GBA2 Louise Daugherty Phenotypes for gene: GBA2 were changed from to Spastic paraplegia 46, autosomal recessive, 614409
Hereditary ataxia v1.180 GBA2 Louise Daugherty Phenotypes for gene: GBA2 were changed from to Spastic paraplegia 46, autosomal recessive, 614409
Hereditary ataxia with onset in adulthood v0.65 GBA2 Louise Daugherty Publications for gene: GBA2 were set to
Adult onset neurodegenerative disorder v0.135 GBA2 Louise Daugherty Publications for gene: GBA2 were set to Martin et al. (2013)
Hereditary ataxia v1.179 GBA2 Louise Daugherty Publications for gene: GBA2 were set to
Ataxia and cerebellar anomalies - narrow panel v0.58 GBA2 Louise Daugherty Publications for gene: GBA2 were set to
Childhood onset hereditary spastic paraplegia v0.56 GBA2 Louise Daugherty Publications for gene: GBA2 were set to Martin et al. (2013)
Hereditary spastic paraplegia v1.182 GBA2 Louise Daugherty Publications for gene: GBA2 were set to Martin et al. (2013)
Hereditary spastic paraplegia v1.181 GBA2 Louise Daugherty Phenotypes for gene: GBA2 were changed from Spastic paraplegia 46, autosomal recessive to Spastic paraplegia 46, autosomal recessive, 614409
Adult onset neurodegenerative disorder v0.134 GBA2 Louise Daugherty Phenotypes for gene: GBA2 were changed from Spastic paraplegia 46, autosomal recessive to Spastic paraplegia 46, autosomal recessive, 614409
Hereditary ataxia with onset in adulthood v0.64 GBA2 Louise Daugherty Phenotypes for gene: GBA2 were changed from to Spastic paraplegia 46, autosomal recessive, 614409
Early onset or syndromic epilepsy v1.12 GLRA1 Louise Daugherty Phenotypes for gene: GLRA1 were changed from Hyperekplexia 1 149400 to Hyperekplexia, hereditary 1, 149400; Hyperekplexia; developmental delay; infantile spasms and generalized tonic-clonic seizures
Adult onset dystonia, chorea or related movement disorder v0.8 GLRA1 Louise Daugherty Phenotypes for gene: GLRA1 were changed from 149400 HYPEREKPLEXIA, HEREDITARY 1 to Hyperekplexia, hereditary 1, 149400
Paroxysmal central nervous system disorders v0.7 GLRA1 Louise Daugherty Phenotypes for gene: GLRA1 were changed from 149400 HYPEREKPLEXIA, HEREDITARY 1 to Hyperekplexia, hereditary 1, 149400
Brain channelopathy v1.52 GLRA1 Louise Daugherty Phenotypes for gene: GLRA1 were changed from 149400 HYPEREKPLEXIA, HEREDITARY 1 to Hyperekplexia, hereditary 1, 149400
Hereditary ataxia with onset in adulthood v0.63 GLRA1 Louise Daugherty Phenotypes for gene: GLRA1 were changed from 149400 HYPEREKPLEXIA, HEREDITARY 1 to Hyperekplexia, hereditary 1, 149400
Adult onset neurodegenerative disorder v0.133 GLRA1 Louise Daugherty Phenotypes for gene: GLRA1 were changed from 149400 HYPEREKPLEXIA, HEREDITARY 1 to Hyperekplexia, hereditary 1, 149400
Likely inborn error of metabolism v1.5 GLRA1 Louise Daugherty Phenotypes for gene: GLRA1 were changed from Hyperekplexia, hereditary 1, autosomal dominant or recessive 149400 to Hyperekplexia, hereditary 1, 149400
Undiagnosed metabolic disorders v1.83 GLRA1 Louise Daugherty Phenotypes for gene: GLRA1 were changed from Hyperekplexia, hereditary 1, autosomal dominant or recessive 149400 to Hyperekplexia, hereditary 1, 149400
Sudden death in young people v1.11 GLRA1 Louise Daugherty Phenotypes for gene: GLRA1 were changed from Hyperekplexia, hereditary 1, autosomal dominant or recessive 149400 to Hyperekplexia, hereditary 1, 149400
Early onset or syndromic epilepsy v1.11 GLRB Louise Daugherty Phenotypes for gene: GLRB were changed from Hyperekplexia 2 614619 to Hyperekplexia 2, 614619
Adult onset dystonia, chorea or related movement disorder v0.7 GLRB Louise Daugherty Phenotypes for gene: GLRB were changed from 614619 HYPEREKPLEXIA 2 to Hyperekplexia 2, 614619
Paroxysmal central nervous system disorders v0.6 GLRB Louise Daugherty Phenotypes for gene: GLRB were changed from 614619 HYPEREKPLEXIA 2 to Hyperekplexia 2, 614619
Brain channelopathy v1.51 GLRB Louise Daugherty Phenotypes for gene: GLRB were changed from 614619 HYPEREKPLEXIA 2 to Hyperekplexia 2, 614619
Hereditary ataxia with onset in adulthood v0.62 GLRB Louise Daugherty Phenotypes for gene: GLRB were changed from 614619 HYPEREKPLEXIA 2 to Hyperekplexia 2, 614619
Adult onset neurodegenerative disorder v0.132 GLRB Louise Daugherty Phenotypes for gene: GLRB were changed from 614619 HYPEREKPLEXIA 2 to Hyperekplexia 2, 614619
Adult onset neurodegenerative disorder v0.131 GRID2 Louise Daugherty Phenotypes for gene: GRID2 were changed from Rare cases of autosomal dominant inheritance reported by Coutelier et al., 2015.; Autosomal recessive spinocerebellar ataxia 18 (#616204) to Spinocerebellar ataxia, autosomal recessive 18, 616204
Hereditary ataxia v1.178 GRID2 Louise Daugherty Phenotypes for gene: GRID2 were changed from Autosomal recessive spinocerebellar ataxia 18 (#616204); Rare cases of autosomal dominant inheritance reported by Coutelier et al., 2015. to Spinocerebellar ataxia, autosomal recessive 18, 616204
Hereditary ataxia v1.177 GRID2 Louise Daugherty Publications for gene: GRID2 were set to PMID: 25841024
Adult onset neurodegenerative disorder v0.130 GRID2 Louise Daugherty Publications for gene: GRID2 were set to PMID: 25841024
Ataxia and cerebellar anomalies - narrow panel v0.57 GRID2 Louise Daugherty Publications for gene: GRID2 were set to PMID: 25841024
Hereditary ataxia with onset in adulthood v0.61 GRID2 Louise Daugherty Phenotypes for gene: GRID2 were changed from Autosomal recessive spinocerebellar ataxia 18 (#616204); Rare cases of autosomal dominant inheritance reported by Coutelier et al., 2015. to Spinocerebellar ataxia, autosomal recessive 18, 616204
Ataxia and cerebellar anomalies - narrow panel v0.56 GRID2 Louise Daugherty Phenotypes for gene: GRID2 were changed from Rare cases of autosomal dominant inheritance reported by Coutelier et al., 2015.; Autosomal recessive spinocerebellar ataxia 18 (#616204) to Spinocerebellar ataxia, autosomal recessive 18, 616204
Early onset or syndromic epilepsy v1.10 HEXA Louise Daugherty Phenotypes for gene: HEXA were changed from Tay-Sachs disease, 272800 to GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800
Hereditary ataxia v1.176 HEXA Louise Daugherty Phenotypes for gene: HEXA were changed from to GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800
Adult onset neurodegenerative disorder v0.129 HEXA Louise Daugherty Phenotypes for gene: HEXA were changed from to GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800
Hereditary ataxia with onset in adulthood v0.60 HEXA Louise Daugherty Phenotypes for gene: HEXA were changed from to GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800
Ataxia and cerebellar anomalies - narrow panel v0.55 HEXA Louise Daugherty Phenotypes for gene: HEXA were changed from to GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800
Likely inborn error of metabolism v1.4 HEXA Louise Daugherty Phenotypes for gene: HEXA were changed from GM2-gangliosidosis, several forms to GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800
Intellectual disability v2.592 HEXA Louise Daugherty Phenotypes for gene: HEXA were changed from Tay-Sachs disease, 272800GM2-gangliosidosis, several forms, 272800[Hex A pseudodeficiency], 272800; GM2-GANGLIOSIDOSIS TYPE 1 (GM2G1) to Tay-Sachs disease, 272800; GM2-gangliosidosis, several forms, 272800; GM2-GANGLIOSIDOSIS TYPE 1 (GM2G1)
Early onset or syndromic epilepsy v1.9 HEXB Louise Daugherty Mode of inheritance for gene: HEXB was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.8 HEXB Louise Daugherty Publications for gene: HEXB were set to
Early onset or syndromic epilepsy v1.7 HEXB Louise Daugherty Phenotypes for gene: HEXB were changed from to Sandhoff disease, infantile, juvenile, and adult forms, 268800
Hereditary ataxia v1.175 HEXB Louise Daugherty Phenotypes for gene: HEXB were changed from to Sandhoff disease, infantile, juvenile, and adult forms, 268800
Adult onset neurodegenerative disorder v0.128 HEXB Louise Daugherty Phenotypes for gene: HEXB were changed from to Sandhoff disease, infantile, juvenile, and adult forms, 268800
Hereditary ataxia with onset in adulthood v0.59 HEXB Louise Daugherty Phenotypes for gene: HEXB were changed from to Sandhoff disease, infantile, juvenile, and adult forms, 268800
Ataxia and cerebellar anomalies - narrow panel v0.54 HEXB Louise Daugherty Phenotypes for gene: HEXB were changed from to Sandhoff disease, infantile, juvenile, and adult forms, 268800
Likely inborn error of metabolism v1.3 HEXB Louise Daugherty Phenotypes for gene: HEXB were changed from Sandhoff disease, infantile, juvenile, and adult forms to Sandhoff disease, infantile, juvenile, and adult forms, 268800
Likely inborn error of metabolism v1.2 MMACHC Louise Daugherty Phenotypes for gene: MMACHC were changed from Methylmalonic aciduria and homocystinuria, cblC type to Methylmalonic aciduria and homocystinuria, cblC type, 277400
Ataxia and cerebellar anomalies - narrow panel v0.53 MMACHC Louise Daugherty Phenotypes for gene: MMACHC were changed from Ataxia and hypogonadism (AR), Also Methylmalonic aciduria and homocystinuria (AR) (OMIM #277400) to Ataxia and hypogonadism; Methylmalonic aciduria and homocystinuria, cblC type, 277400
Ataxia and cerebellar anomalies - narrow panel v0.52 MMACHC Louise Daugherty Publications for gene: MMACHC were set to PMID: 26283149
Hereditary ataxia with onset in adulthood v0.58 MMACHC Louise Daugherty Phenotypes for gene: MMACHC were changed from Methylmalonic aciduria and homocystinuria (AR) (OMIM #277400); Ataxia and hypogonadism (AR) to Ataxia and hypogonadism; Methylmalonic aciduria and homocystinuria, cblC type, 277400
Adult onset neurodegenerative disorder v0.127 MMACHC Louise Daugherty Phenotypes for gene: MMACHC were changed from Ataxia and hypogonadism (AR), Also Methylmalonic aciduria and homocystinuria (AR) (OMIM #277400) to Ataxia and hypogonadism; Methylmalonic aciduria and homocystinuria, cblC type, 277400
Adult onset neurodegenerative disorder v0.126 MMACHC Louise Daugherty Publications for gene: MMACHC were set to PMID: 26283149
Hereditary ataxia v1.174 MMACHC Louise Daugherty Phenotypes for gene: MMACHC were changed from Ataxia and hypogonadism (AR), Also Methylmalonic aciduria and homocystinuria (AR) (OMIM #277400) to Ataxia and hypogonadism; Methylmalonic aciduria and homocystinuria, cblC type, 277400
Hereditary ataxia v1.173 MMACHC Louise Daugherty Publications for gene: MMACHC were set to PMID: 26283149
Hereditary ataxia v1.172 OPHN1 Louise Daugherty Phenotypes for gene: OPHN1 were changed from to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
Adult onset neurodegenerative disorder v0.125 OPHN1 Louise Daugherty Phenotypes for gene: OPHN1 were changed from to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
Hereditary ataxia with onset in adulthood v0.57 OPHN1 Louise Daugherty Phenotypes for gene: OPHN1 were changed from to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
Fetal anomalies v0.61 OPHN1 Louise Daugherty Phenotypes for gene: OPHN1 were changed from MENTAL RETARDATION X-LINKED OPHN1-RELATED to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
Fetal anomalies v0.60 SIL1 Louise Daugherty Phenotypes for gene: SIL1 were changed from MARINESCO-SJOEGREN SYNDROME to Marinesco-Sjogren syndrome, 248800
Hereditary ataxia with onset in adulthood v0.56 SIL1 Louise Daugherty Phenotypes for gene: SIL1 were changed from to Marinesco-Sjogren syndrome, 248800
Adult onset neurodegenerative disorder v0.124 SIL1 Louise Daugherty Phenotypes for gene: SIL1 were changed from to Marinesco-Sjogren syndrome, 248800
Ataxia and cerebellar anomalies - narrow panel v0.51 SIL1 Louise Daugherty Phenotypes for gene: SIL1 were changed from to Marinesco-Sjogren syndrome, 248800
Hereditary ataxia v1.171 SIL1 Louise Daugherty Phenotypes for gene: SIL1 were changed from to Marinesco-Sjogren syndrome, 248800
Other rare neuromuscular disorders v1.1 SIL1 Louise Daugherty Phenotypes for gene: SIL1 were changed from Marinesco-Sjogren syndrome to Marinesco-Sjogren syndrome, 248800
Bilateral congenital or childhood onset cataracts v1.23 SIL1 Louise Daugherty Phenotypes for gene: SIL1 were changed from Marinesco-Sjogren syndrome to Marinesco-Sjogren syndrome, 248800
Vici Syndrome and other autophagy disorders v1.2 SIL1 Louise Daugherty Phenotypes for gene: SIL1 were changed from Marinesco-sjoegren syndrome (wuth phenotypical overlap with Vici syndrome) to Marinesco-sjoegren syndrome (with phenotypical overlap with Vici syndrome); Marinesco-Sjogren syndrome, 248800
Brain channelopathy v1.50 SLC6A5 Louise Daugherty Phenotypes for gene: SLC6A5 were changed from 614618 HYPEREKPLEXIA 3 to Hyperekplexia 3, 614618
Brain channelopathy v1.49 SLC6A5 Louise Daugherty Publications for gene: SLC6A5 were set to 16751771;
Paroxysmal central nervous system disorders v0.5 SLC6A5 Louise Daugherty Phenotypes for gene: SLC6A5 were changed from 614618 HYPEREKPLEXIA 3 to Hyperekplexia 3, 614618
Adult onset dystonia, chorea or related movement disorder v0.6 SLC6A5 Louise Daugherty Phenotypes for gene: SLC6A5 were changed from 614618 HYPEREKPLEXIA 3 to Hyperekplexia 3, 614618
Fetal anomalies v0.59 SLC6A5 Louise Daugherty Phenotypes for gene: SLC6A5 were changed from HYPEREKPLEXIA to Hyperekplexia 3, 614618
Hereditary ataxia with onset in adulthood v0.55 SLC6A5 Louise Daugherty Phenotypes for gene: SLC6A5 were changed from 614618 HYPEREKPLEXIA 3 to Hyperekplexia 3, 614618
Adult onset neurodegenerative disorder v0.123 SLC6A5 Louise Daugherty Phenotypes for gene: SLC6A5 were changed from 614618 HYPEREKPLEXIA 3 to Hyperekplexia 3, 614618
Adult onset neurodegenerative disorder v0.122 SLC9A6 Louise Daugherty Phenotypes for gene: SLC9A6 were changed from to Mental retardation, X-linked syndromic, Christianson type, 300243
Ataxia and cerebellar anomalies - narrow panel v0.50 SLC9A6 Louise Daugherty Phenotypes for gene: SLC9A6 were changed from to Mental retardation, X-linked syndromic, Christianson type, 300243
Hereditary ataxia v1.170 SLC9A6 Louise Daugherty Phenotypes for gene: SLC9A6 were changed from to Mental retardation, X-linked syndromic, Christianson type, 300243
Hereditary ataxia with onset in adulthood v0.54 SLC9A6 Louise Daugherty Phenotypes for gene: SLC9A6 were changed from to Mental retardation, X-linked syndromic, Christianson type, 300243
Hereditary ataxia with onset in adulthood v0.53 SRD5A3 Louise Daugherty Phenotypes for gene: SRD5A3 were changed from to Congenital disorder of glycosylation, type Iq, 612379; Kahrizi syndrome, 612713
Hereditary ataxia v1.169 SRD5A3 Louise Daugherty Phenotypes for gene: SRD5A3 were changed from to Congenital disorder of glycosylation, type Iq, 612379; Kahrizi syndrome, 612713
Ataxia and cerebellar anomalies - narrow panel v0.49 SRD5A3 Louise Daugherty Phenotypes for gene: SRD5A3 were changed from to Congenital disorder of glycosylation, type Iq, 612379; Kahrizi syndrome, 612713
Adult onset neurodegenerative disorder v0.121 SRD5A3 Louise Daugherty Phenotypes for gene: SRD5A3 were changed from to Congenital disorder of glycosylation, type Iq, 612379; Kahrizi syndrome, 612713
Adult onset neurodegenerative disorder v0.120 TGM6 Louise Daugherty Phenotypes for gene: TGM6 were changed from Spinocerebellar ataxia 35 to Spinocerebellar ataxia 35, 613908
Ataxia and cerebellar anomalies - narrow panel v0.48 TGM6 Louise Daugherty Phenotypes for gene: TGM6 were changed from Spinocerebellar ataxia 35 to Spinocerebellar ataxia 35, 613908
Hereditary ataxia v1.168 TGM6 Louise Daugherty Phenotypes for gene: TGM6 were changed from Spinocerebellar ataxia 35 to Spinocerebellar ataxia 35, 613908
Hereditary ataxia with onset in adulthood v0.52 TGM6 Louise Daugherty Phenotypes for gene: TGM6 were changed from Spinocerebellar ataxia 35 to Spinocerebellar ataxia 35, 613908
Adult onset neurodegenerative disorder v0.119 TMEM240 Louise Daugherty Phenotypes for gene: TMEM240 were changed from Spinocerebellar ataxia 21 (#616101) to Spinocerebellar ataxia 21, 607454
Ataxia and cerebellar anomalies - narrow panel v0.47 TMEM240 Louise Daugherty Phenotypes for gene: TMEM240 were changed from Spinocerebellar ataxia 21 (#616101) to Spinocerebellar ataxia 21, 607454
Hereditary ataxia v1.167 TMEM240 Louise Daugherty Added comment: Comment on phenotypes: corrected MIM
Hereditary ataxia v1.167 TMEM240 Louise Daugherty Phenotypes for gene: TMEM240 were changed from Spinocerebellar ataxia 21 (#616101) to Spinocerebellar ataxia 21, 607454
Hereditary ataxia with onset in adulthood v0.51 TMEM240 Louise Daugherty Phenotypes for gene: TMEM240 were changed from Spinocerebellar ataxia 21 (#616101) to Spinocerebellar ataxia 21, 607454
Adult onset neurodegenerative disorder v0.118 TPP1 Louise Daugherty Phenotypes for gene: TPP1 were changed from Autosomal recessive spinocerebellar ataxia 7 (#607998); Neuronal ceroid lipfuscinosis 7 (204500) to Ceroid lipofuscinosis, neuronal, 2, 204500; Spinocerebellar ataxia, autosomal recessive 7, 609270
Hereditary ataxia v1.166 TPP1 Louise Daugherty Phenotypes for gene: TPP1 were changed from Autosomal recessive spinocerebellar ataxia 7 (#607998); Neuronal ceroid lipfuscinosis 7 (204500) to Ceroid lipofuscinosis, neuronal, 2, 204500; Spinocerebellar ataxia, autosomal recessive 7, 609270
Hereditary ataxia with onset in adulthood v0.50 TPP1 Louise Daugherty Phenotypes for gene: TPP1 were changed from Neuronal ceroid lipfuscinosis 7 (204500); Autosomal recessive spinocerebellar ataxia 7 (#607998) to Ceroid lipofuscinosis, neuronal, 2, 204500; Spinocerebellar ataxia, autosomal recessive 7, 609270
Hereditary ataxia v1.165 TSEN2 Louise Daugherty Phenotypes for gene: TSEN2 were changed from Pontocerebellar hypoplasia 2B (612389) to Pontocerebellar hypoplasia 2B, 612389
Adult onset neurodegenerative disorder v0.117 TSEN2 Louise Daugherty Phenotypes for gene: TSEN2 were changed from Pontocerebellar hypoplasia 2B (612389) to Pontocerebellar hypoplasia 2B, 612389
Hereditary ataxia with onset in adulthood v0.49 TSEN2 Louise Daugherty Phenotypes for gene: TSEN2 were changed from Pontocerebellar hypoplasia 2B (612389) to Pontocerebellar hypoplasia 2B, 612389
Fetal anomalies v0.58 TSEN54 Louise Daugherty Phenotypes for gene: TSEN54 were changed from PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4; Pontocerebellar hypoplasia type 2A, 277470; Pontocerebellar hypoplasia type 4, 225753
Hereditary ataxia v1.164 TSEN54 Louise Daugherty Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia 2A (#277470) and 4 (#225753) to Pontocerebellar hypoplasia type 2A, 277470; Pontocerebellar hypoplasia type 4, 225753
Hereditary ataxia with onset in adulthood v0.48 TSEN54 Louise Daugherty Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia 2A (#277470) and 4 (#225753) to Pontocerebellar hypoplasia type 2A, 277470; Pontocerebellar hypoplasia type 4, 225753
Hereditary ataxia with onset in adulthood v0.47 EIF2B2 Louise Daugherty Phenotypes for gene: EIF2B2 were changed from Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Leukoencephalopathy with vanishing white matter, 603896
Hereditary ataxia v1.163 EIF2B2 Louise Daugherty Phenotypes for gene: EIF2B2 were changed from Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Leukoencephalopathy with vanishing white matter, 603896
Ataxia and cerebellar anomalies - narrow panel v0.46 EIF2B2 Louise Daugherty Phenotypes for gene: EIF2B2 were changed from Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Leukoencephalopathy with vanishing white matter, 603896
Adult onset neurodegenerative disorder v0.116 EIF2B2 Louise Daugherty Phenotypes for gene: EIF2B2 were changed from Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Leukoencephalopathy with vanishing white matter, 603896
Adult onset neurodegenerative disorder v0.115 TTC19 Louise Daugherty Phenotypes for gene: TTC19 were changed from Nuclear type mitochondrial complex III deficiency (#615157) to Mitochondrial complex III deficiency, nuclear type 2, 615157
Ataxia and cerebellar anomalies - narrow panel v0.45 TTC19 Louise Daugherty Phenotypes for gene: TTC19 were changed from Nuclear type mitochondrial complex III deficiency (#615157) to Mitochondrial complex III deficiency, nuclear type 2, 615157
Hereditary ataxia v1.162 TTC19 Louise Daugherty Phenotypes for gene: TTC19 were changed from Nuclear type mitochondrial complex III deficiency (#615157) to Mitochondrial complex III deficiency, nuclear type 2, 615157
Hereditary ataxia with onset in adulthood v0.46 TTC19 Louise Daugherty Phenotypes for gene: TTC19 were changed from Nuclear type mitochondrial complex III deficiency, 615157 to Mitochondrial complex III deficiency, nuclear type 2, 615157
Hereditary ataxia with onset in adulthood v0.45 TTC19 Louise Daugherty Phenotypes for gene: TTC19 were changed from Nuclear type mitochondrial complex III deficiency (#615157) to Nuclear type mitochondrial complex III deficiency, 615157
Hereditary ataxia with onset in adulthood v0.44 TUBB4A Louise Daugherty Phenotypes for gene: TUBB4A were changed from Hypomyelinating leukodystrophy 6, 612438; Torsion dystonia 4 ,128101 to Leukodystrophy, hypomyelinating, 6, 612438; Dystonia 4, torsion, autosomal dominant, 128101
Hereditary ataxia v1.161 TUBB4A Louise Daugherty Phenotypes for gene: TUBB4A were changed from Hypomyelinating leukodystrophy 6, 612438; Torsion dystonia 4 ,128101 to Leukodystrophy, hypomyelinating, 6, 612438; Dystonia 4, torsion, autosomal dominant, 128101
Ataxia and cerebellar anomalies - narrow panel v0.44 TUBB4A Louise Daugherty Phenotypes for gene: TUBB4A were changed from Hypomyelinating leukodystrophy 6, 612438; Torsion dystonia 4 ,128101 to Leukodystrophy, hypomyelinating, 6, 612438; Dystonia 4, torsion, autosomal dominant, 128101
Ataxia and cerebellar anomalies - narrow panel v0.43 TUBB4A Louise Daugherty Publications for gene: TUBB4A were set to PMID: 25497598
Hereditary ataxia v1.160 TUBB4A Louise Daugherty Publications for gene: TUBB4A were set to PMID: 25497598
Ataxia and cerebellar anomalies - narrow panel v0.42 TUBB4A Louise Daugherty Added comment: Comment on phenotypes: Implicated autosomal dominant variants in two families with ataxia; hypomyelinating leukodystrophy 6 (612438) - ataxia reported.; Torsion dystonia 4 (128101) - some individuals with ataxia
Ataxia and cerebellar anomalies - narrow panel v0.42 TUBB4A Louise Daugherty Phenotypes for gene: TUBB4A were changed from Implicated autosomal dominant variants in two families with ataxia; Torsion dystonia 4 (128101) - some individuals with ataxia; hypomyelinating leukodystrophy 6 (612438) - ataxia reported. to Hypomyelinating leukodystrophy 6, 612438; Torsion dystonia 4 ,128101
Hereditary ataxia v1.159 TUBB4A Louise Daugherty Added comment: Comment on phenotypes: Implicated autosomal dominant variants in two families with ataxia; hypomyelinating leukodystrophy 6 (612438) - ataxia reported.; Torsion dystonia 4 (128101) - some individuals with ataxia
Hereditary ataxia v1.159 TUBB4A Louise Daugherty Phenotypes for gene: TUBB4A were changed from Implicated autosomal dominant variants in two families with ataxia; Torsion dystonia 4 (128101) - some individuals with ataxia; hypomyelinating leukodystrophy 6 (612438) - ataxia reported. to Hypomyelinating leukodystrophy 6, 612438; Torsion dystonia 4 ,128101
Hereditary ataxia with onset in adulthood v0.43 TUBB4A Louise Daugherty Added comment: Comment on phenotypes: Implicated autosomal dominant variants in two families with ataxia; hypomyelinating leukodystrophy 6 (612438) - ataxia reported.; Torsion dystonia 4 (128101) - some individuals with ataxia
Hereditary ataxia with onset in adulthood v0.43 TUBB4A Louise Daugherty Phenotypes for gene: TUBB4A were changed from Implicated autosomal dominant variants in two families with ataxia; hypomyelinating leukodystrophy 6 (612438) - ataxia reported.; Torsion dystonia 4 (128101) - some individuals with ataxia to Hypomyelinating leukodystrophy 6, 612438; Torsion dystonia 4 ,128101
Ataxia and cerebellar anomalies - narrow panel v0.41 TWNK Louise Daugherty Phenotypes for gene: TWNK were changed from Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders (Dominant) to Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders, Dominant; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Perrault syndrome 5, 616138; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245
Hereditary ataxia v1.158 TWNK Louise Daugherty Phenotypes for gene: TWNK were changed from Ataxia Neuropathy Spectrum Disorders (Dominant); Spinocerebellar Ataxia, Recessive to Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders, Dominant; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Perrault syndrome 5, 616138; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245
Hereditary ataxia with onset in adulthood v0.42 TWNK Louise Daugherty Phenotypes for gene: TWNK were changed from Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders (Dominant); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Perrault syndrome 5, 616138; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 to Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders, Dominant; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Perrault syndrome 5, 616138; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245
Adult onset neurodegenerative disorder v0.114 TWNK Louise Daugherty Phenotypes for gene: TWNK were changed from Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders (Dominant) to Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders, Dominant; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Perrault syndrome 5, 616138; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245
Hereditary ataxia with onset in adulthood v0.41 TWNK Louise Daugherty Phenotypes for gene: TWNK were changed from Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders (Dominant) to Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders (Dominant); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Perrault syndrome 5, 616138; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245
Hereditary ataxia with onset in adulthood v0.40 VLDLR Louise Daugherty Phenotypes for gene: VLDLR were changed from to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050
Adult onset neurodegenerative disorder v0.113 VLDLR Louise Daugherty Phenotypes for gene: VLDLR were changed from to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050
Hereditary ataxia v1.157 VLDLR Louise Daugherty Phenotypes for gene: VLDLR were changed from to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050
Fetal anomalies v0.57 COQ8A Louise Daugherty Phenotypes for gene: COQ8A were changed from COENZYME Q10 DEFICIENCY to Coenzyme Q10 deficiency, primary 4, 612016
Ataxia and cerebellar anomalies - narrow panel v0.40 COQ8A Louise Daugherty Phenotypes for gene: COQ8A were changed from Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type to Coenzyme Q10 deficiency, primary 4, 612016; Spinocerebellar Ataxia Type
Adult onset neurodegenerative disorder v0.112 COQ8A Louise Daugherty Phenotypes for gene: COQ8A were changed from Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type to Coenzyme Q10 deficiency, primary 4, 612016; Spinocerebellar Ataxia Type
Hereditary ataxia v1.156 COQ8A Louise Daugherty Phenotypes for gene: COQ8A were changed from Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type to Coenzyme Q10 deficiency, primary 4, 612016; Spinocerebellar Ataxia Type
Hereditary ataxia with onset in adulthood v0.39 VPS13D Louise Daugherty Phenotypes for gene: VPS13D were changed from spastic ataxia to Spinocerebellar ataxia, autosomal recessive 4, 607317
Adult onset neurodegenerative disorder v0.111 VPS13D Louise Daugherty Phenotypes for gene: VPS13D were changed from spastic ataxia to Spinocerebellar ataxia, autosomal recessive 4, 607317
Hereditary ataxia v1.155 VPS13D Louise Daugherty Phenotypes for gene: VPS13D were changed from spastic ataxia to Spinocerebellar ataxia, autosomal recessive 4, 607317
Ataxia and cerebellar anomalies - narrow panel v0.39 VPS13D Louise Daugherty Phenotypes for gene: VPS13D were changed from spastic ataxia to Spinocerebellar ataxia, autosomal recessive 4, 607317
Fetal anomalies v0.56 WDR73 Louise Daugherty Phenotypes for gene: WDR73 were changed from GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME to GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME; Galloway-Mowat syndrome 1, 251300
Hereditary ataxia with onset in adulthood v0.38 VRK1 Louise Daugherty Phenotypes for gene: VRK1 were changed from Pontocerebellar hypoplasia 1A (#607596) to Pontocerebellar hypoplasia 1A, 607596
Adult onset neurodegenerative disorder v0.110 WDR73 Louise Daugherty Phenotypes for gene: WDR73 were changed from Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature; Galloway Mowat Syndrome to Galloway Mowat syndrome, when patients are ambulant ataxia is a recognised feature; Galloway-Mowat syndrome 1, 251300
Hereditary ataxia v1.154 WDR73 Louise Daugherty Phenotypes for gene: WDR73 were changed from Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature to Galloway Mowat syndrome, when patients are ambulant ataxia is a recognised feature; Galloway-Mowat syndrome 1, 251300
Intellectual disability v2.591 WDR73 Louise Daugherty Phenotypes for gene: WDR73 were changed from GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME to GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME; Galloway-Mowat syndrome 1, 251300
Ataxia and cerebellar anomalies - narrow panel v0.38 WDR73 Louise Daugherty Phenotypes for gene: WDR73 were changed from Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature to Galloway Mowat syndrome, when patients are ambulant ataxia is a recognised feature; Galloway-Mowat syndrome 1, 251300
Adult onset dystonia, chorea or related movement disorder v0.5 WDR73 Louise Daugherty Phenotypes for gene: WDR73 were changed from Galloway Mowat Syndrome to Galloway-Mowat syndrome 1, 251300
Early onset dystonia v1.77 WDR73 Louise Daugherty Phenotypes for gene: WDR73 were changed from Galloway Mowat Syndrome to Galloway-Mowat syndrome 1, 251300
Adult onset neurodegenerative disorder v0.109 WDR81 Louise Daugherty Phenotypes for gene: WDR81 were changed from Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185
Hereditary ataxia v1.153 WDR81 Louise Daugherty Phenotypes for gene: WDR81 were changed from Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185
Hereditary ataxia with onset in adulthood v0.37 WDR81 Louise Daugherty Phenotypes for gene: WDR81 were changed from Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185
Likely inborn error of metabolism v1.1 WFS1 Louise Daugherty Phenotypes for gene: WFS1 were changed from Diabetes with additional phenotypes suggestive of a monogenic aetiology; Inherited optic neuropathies; Wolfram syndrome 1 (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Hereditary ataxia; Familial diabetes; Congenital hearing impairment (profound/severe) to Diabetes with additional phenotypes suggestive of a monogenic aetiology; Inherited optic neuropathies; Wolfram syndrome 1, 222300; Mitochondrial respiratory chain disorders caused by nuclear variants only; Hereditary ataxia; Familial diabetes; Congenital hearing impairment (profound/severe)
Hereditary ataxia v1.152 WFS1 Louise Daugherty Phenotypes for gene: WFS1 were changed from to Wolfram syndrome 1, 222300
Adult onset neurodegenerative disorder v0.108 WFS1 Louise Daugherty Phenotypes for gene: WFS1 were changed from to Wolfram syndrome 1, 222300
Ataxia and cerebellar anomalies - narrow panel v0.37 WFS1 Louise Daugherty Phenotypes for gene: WFS1 were changed from to Wolfram syndrome 1, 222300
Hereditary ataxia with onset in adulthood v0.36 WFS1 Louise Daugherty Phenotypes for gene: WFS1 were changed from to Wolfram syndrome 1, 222300
Optic neuropathy v1.26 WFS1 Louise Daugherty Phenotypes for gene: WFS1 were changed from Wolfram syndrome; Wolfram syndrome to Wolfram syndrome
Hereditary ataxia with onset in adulthood v0.35 WWOX Louise Daugherty Phenotypes for gene: WWOX were changed from Autosomal recessive spinocerebellar ataxia 12 (#614322) to Autosomal recessive spinocerebellar ataxia 12, 614322
Ataxia and cerebellar anomalies - narrow panel v0.36 WWOX Louise Daugherty Phenotypes for gene: WWOX were changed from Autosomal recessive spinocerebellar ataxia 12 (#614322) to Autosomal recessive spinocerebellar ataxia 12, 614322
Adult onset neurodegenerative disorder v0.107 WWOX Louise Daugherty Phenotypes for gene: WWOX were changed from Autosomal recessive spinocerebellar ataxia 12 (#614322) to Autosomal recessive spinocerebellar ataxia 12, 614322
Hereditary ataxia v1.151 WWOX Louise Daugherty Phenotypes for gene: WWOX were changed from Autosomal recessive spinocerebellar ataxia 12 (#614322) to Autosomal recessive spinocerebellar ataxia 12, 614322
Other rare neuromuscular disorders v1.0 Louise Daugherty promoted panel to version 1.0
Other rare neuromuscular disorders v0.78 BICD2 Louise Daugherty Phenotypes for gene: BICD2 were changed from Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 -3 to Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290
Other rare neuromuscular disorders v0.77 CACNA1S Louise Daugherty Phenotypes for gene: CACNA1S were changed from congenital myopathy; {Malignant hyperthermia susceptibility 5}, 601887 to Congenital myopathy; Malignant hyperthermia susceptibility 5, 601887
Other rare neuromuscular disorders v0.76 DMD Louise Daugherty Phenotypes for gene: DMD were changed from Duchenne muscular dystrophy, 310200; Duchenne muscular dystrophy 310200; Becker muscular dystrophy; Becker muscular dystrophy, 300376 to Duchenne muscular dystrophy, 310200; Becker muscular dystrophy, 300376
Other rare neuromuscular disorders v0.75 DOLK Louise Daugherty Phenotypes for gene: DOLK were changed from Congenital disorder of glycosylation, type Im to Congenital disorder of glycosylation, type Im, 610768
Other rare neuromuscular disorders v0.74 EPG5 Louise Daugherty Phenotypes for gene: EPG5 were changed from vacuolar myopathy? to Vacuolar myopathy; Vici syndrome, 242840
Other rare neuromuscular disorders v0.73 ETFA Louise Daugherty Phenotypes for gene: ETFA were changed from to Glutaric acidemia IIA 231680
Rhabdomyolysis and metabolic muscle disorders v1.25 ETFA Louise Daugherty Phenotypes for gene: ETFA were changed from Glutaric acidemia IIA 231680 to Glutaric acidemia IIA 231680
Other rare neuromuscular disorders v0.72 FLNC Louise Daugherty Phenotypes for gene: FLNC were changed from Myopathy, myofibrillar, 5, 609524; Myopathy, myofibrillar, 5; Distal myopathy 4, 614065; myofibrillar myopathy 5, 609524 to Myopathy, myofibrillar, 5, 609524; Myopathy, myofibrillar, 5; Distal myopathy 4, 614065
Congenital myopathy v1.72 FKBP14 Louise Daugherty Phenotypes for gene: FKBP14 were changed from Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, to Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 6, 14557
Ehlers Danlos syndrome with a likely monogenic cause v1.40 FKBP14 Louise Daugherty Phenotypes for gene: FKBP14 were changed from Ehlers-Danlos Syndrome, Kyphoscoliotic Form; Ehlers Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557; Kyphoscoliotic EDS; kEDS-FKBP14; EDS VI; EDS VIA to Ehlers-Danlos Syndrome, Kyphoscoliotic Form; Ehlers Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557; Kyphoscoliotic EDS; kEDS-FKBP14; EDS VI; EDS VIA; Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557
Other rare neuromuscular disorders v0.71 FKBP14 Louise Daugherty Added comment: Comment on phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557
Other rare neuromuscular disorders v0.71 FKBP14 Louise Daugherty Phenotypes for gene: FKBP14 were changed from Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, to Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss; Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557
Other rare neuromuscular disorders v0.70 GYG1 Louise Daugherty Phenotypes for gene: GYG1 were changed from ?Glycogen storage disease XV to Glycogen storage disease XV,613507; Polyglucosan body myopathy 2, 616199
Other rare neuromuscular disorders v0.69 GYS1 Louise Daugherty Phenotypes for gene: GYS1 were changed from Glycogen storage disease 0, muscle to Glycogen storage disease 0, muscle, 611556
Other rare neuromuscular disorders v0.68 HADHB Louise Daugherty Phenotypes for gene: HADHB were changed from to Trifunctional protein deficiency, 609015
Other rare neuromuscular disorders v0.67 LDHA Louise Daugherty Phenotypes for gene: LDHA were changed from to Glycogen storage disease XI, 612933
Other rare neuromuscular disorders v0.66 LPIN1 Louise Daugherty Phenotypes for gene: LPIN1 were changed from to Myoglobinuria, acute recurrent, autosomal recessive, 268200
Other rare neuromuscular disorders v0.65 PHKA1 Louise Daugherty Phenotypes for gene: PHKA1 were changed from Muscle glycogenosis to Muscle glycogenosis, 300559
Other rare neuromuscular disorders v0.64 PYGM Louise Daugherty Phenotypes for gene: PYGM were changed from Glycogen storage disease V McArdle disease to Glycogen storage disease V; McArdle disease, 232600
Congenital myopathy v1.71 SLC25A4 Louise Daugherty Phenotypes for gene: SLC25A4 were changed from Mitochondrial myopathy; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283 to itochondrial myopathy; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 60928
Other rare neuromuscular disorders v0.63 SLC25A4 Louise Daugherty Phenotypes for gene: SLC25A4 were changed from Mitochondrial myopathy; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283 to Mitochondrial myopathy; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283
Other rare neuromuscular disorders v0.62 SLC25A4 Louise Daugherty Phenotypes for gene: SLC25A4 were changed from mitochondrial myopathy to Mitochondrial myopathy; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283
Congenital myopathy v1.70 SLC25A4 Louise Daugherty Phenotypes for gene: SLC25A4 were changed from mitochondrial myopathy; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283 to Mitochondrial myopathy; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283
Congenital myopathy v1.69 SLC25A4 Louise Daugherty Phenotypes for gene: SLC25A4 were changed from mitochondrial myopathy to mitochondrial myopathy; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283
Other rare neuromuscular disorders v0.61 SLC25A4 Louise Daugherty Publications for gene: SLC25A4 were set to 27693233; PMID:25732997
Other rare neuromuscular disorders v0.60 SMN1 Louise Daugherty Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy 1, 253300 to Spinal muscular atrophy 1, 253300; Spinal muscular atrophy 2, 253550; Spinal muscular atrophy 3, 253400; Spinal muscular atrophy 4, 271150
Paediatric motor neuronopathies v1.20 SMN1 Louise Daugherty Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy-1, 253300 to Spinal muscular atrophy 1, 253300; Spinal muscular atrophy 2, 253550; Spinal muscular atrophy 3, 253400; Spinal muscular atrophy 4, 271150
Other rare neuromuscular disorders v0.59 SMN1 Louise Daugherty Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy-1, 253300 to Spinal muscular atrophy 1, 253300
Other rare neuromuscular disorders v0.58 SPEG Louise Daugherty Publications for gene: SPEG were set to PMID 25087613
Congenital myopathy v1.68 STAC3 Louise Daugherty Phenotypes for gene: STAC3 were changed from Native American myopathy, 255995 (3) to Myopathy, congenital, Baily-Bloch, 255995
Arthrogryposis v2.37 STAC3 Louise Daugherty Phenotypes for gene: STAC3 were changed from Native American myopathy, 255995 (3) to Myopathy, congenital, Baily-Bloch, 255995
Other rare neuromuscular disorders v0.57 STAC3 Louise Daugherty Phenotypes for gene: STAC3 were changed from Native American myopathy, 255995 (3) to Myopathy, congenital, Baily-Bloch, 255995
Other rare neuromuscular disorders v0.56 SUCLA2 Louise Daugherty Phenotypes for gene: SUCLA2 were changed from Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073
Other rare neuromuscular disorders v0.55 SYNE1 Louise Daugherty Phenotypes for gene: SYNE1 were changed from Emery-Dreifuss muscular dystrophy 4, autosomal dominant to Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998; Spinocerebellar ataxia, autosomal recessive 8, 610743
Other rare neuromuscular disorders v0.54 TK2 Louise Daugherty Phenotypes for gene: TK2 were changed from Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560
Rhabdomyolysis and metabolic muscle disorders v1.24 TK2 Louise Daugherty Added comment: Comment on phenotypes: changed phenotype to Mitochondrial DNA depletion syndrome 2 (myopathic type), as Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 relates to variants of the gene SUCLA2, not TK2
Rhabdomyolysis and metabolic muscle disorders v1.24 TK2 Louise Daugherty Phenotypes for gene: TK2 were changed from Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560
Other rare neuromuscular disorders v0.53 TMEM5 Louise Daugherty Phenotypes for gene: TMEM5 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type 10, 615041
Other rare neuromuscular disorders v0.52 TNNT1 Louise Daugherty Phenotypes for gene: TNNT1 were changed from Nemaline myopathy 5, Amish type, 605355; Nemaline Myopathy, Recessive; nemaline myopathy to Nemaline myopathy 5, Amish type, 605355; Nemaline Myopathy, Recessive
Other rare neuromuscular disorders v0.51 TSEN54 Louise Daugherty Phenotypes for gene: TSEN54 were changed from ?Pontocerebellar hypoplasia type 5 to Pontocerebellar hypoplasia type 5, 610204
Adult onset neurodegenerative disorder v0.106 TSEN54 Louise Daugherty Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia 2A, 277470, Pontocerebellar hypoplasia 4, 225753 to Pontocerebellar hypoplasia 2A, 277470; Pontocerebellar hypoplasia 4, 225753
Adult onset neurodegenerative disorder v0.105 TSEN54 Louise Daugherty Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia 2A (#277470) and 4 (#225753) to Pontocerebellar hypoplasia 2A, 277470, Pontocerebellar hypoplasia 4, 225753
Adult onset neurodegenerative disorder v0.105 TSEN54 Louise Daugherty Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia 2A (#277470) and 4 (#225753) to Pontocerebellar hypoplasia 2A, 277470, Pontocerebellar hypoplasia 4, 225753
Other rare neuromuscular disorders v0.50 ISPD Louise Daugherty Phenotypes for gene: ISPD were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7; Congenital Muscular Dystrophy, alpha-dystroglycan related; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; 614643; Walker-Warburg syndrome (WWS); Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; 616052 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052; Congenital Muscular Dystrophy, alpha-dystroglycan related; Walker-Warburg syndrome (WWS)
Other rare neuromuscular disorders v0.49 AR Louise Daugherty Phenotypes for gene: AR were changed from Androgen insensitivity, 300068Spinal and bulbar muscular atrophy of Kennedy, 313200Androgen insensitivity, partial, with or without breast cancer, 312300{Prostate cancer, susceptibility to}, 176807Hypospadias 1, X-linked, 300633 to Androgen insensitivity, 300068; Spinal and bulbar muscular atrophy of Kennedy, 313200; Androgen insensitivity, partial, with or without breast cancer, 312300; Hypospadias 1, X-linked, 300633
Other rare neuromuscular disorders v0.48 CRYAB Louise Daugherty Phenotypes for gene: CRYAB were changed from Myopathy, myofibrillar 2, 608810; Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related 613869; Myopathy, myofibrillar, 2 608810 to Myopathy, myofibrillar 2, 608810; Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related 613869
Hereditary spastic paraplegia v1.180 ERLIN1 Rebecca Foulger Classified gene: ERLIN1 as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.180 ERLIN1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Green to Amber awaiting further clinical review. A note of caution: OMIM states that in the article by Novarino et al. (2014), the nomenclature for the mutation in family 1598 was inconsistent, i.e., a 6-bp deletion, c.862_868delACCAGG.
Hereditary spastic paraplegia v1.180 ERLIN1 Rebecca Foulger Gene: erlin1 has been classified as Amber List (Moderate Evidence).
Other rare neuromuscular disorders v0.47 GNE Louise Daugherty Phenotypes for gene: GNE were changed from Nonaka myopathy 605820 to Nonaka myopathy, 605820
Other rare neuromuscular disorders v0.46 GNE Louise Daugherty Phenotypes for gene: GNE were changed from Nonaka myopathy 605820; Nonaka myopathy, 605820; Nonaka myopathy to Nonaka myopathy 605820
Other rare neuromuscular disorders v0.45 GNE Louise Daugherty Added comment: Comment on mode of inheritance: changed moi to reflect MOI for Nonaka myopathy only, since Sialuria, 269921 (AD) is not relevant to this panel
Other rare neuromuscular disorders v0.45 GNE Louise Daugherty Mode of inheritance for gene: GNE was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v0.103 SLC2A1 Rebecca Foulger Publications for gene: SLC2A1 were set to 19630075; 18451999; 18577546; 11136715; 21832227; 18606970
Hereditary spastic paraplegia v1.179 SLC2A1 Rebecca Foulger Publications for gene: SLC2A1 were set to 11136715; 21832227; 18606970
Other rare neuromuscular disorders v0.44 HSPB8 Louise Daugherty Phenotypes for gene: HSPB8 were changed from Neuropathy, distal hereditary motor type IIA, 158590; distal myopathy; Neuropathy, distal hereditary motor, type IIA 158590 to Neuropathy, distal hereditary motor type IIA, 158590; Distal myopathy
Other rare neuromuscular disorders v0.43 VMA21 Louise Daugherty Phenotypes for gene: VMA21 were changed from vacuolar myopathy; Myopathy, X-linked, with excessive autophagy, 310440 to Vacuolar myopathy; Myopathy, X-linked, with excessive autophagy, 310440
Other rare neuromuscular disorders v0.42 KLHL41 Louise Daugherty Phenotypes for gene: KLHL41 were changed from Nemaline myopathy 9, 615731 (3) to Nemaline myopathy 9, 615731
Other rare neuromuscular disorders v0.41 ISCU Louise Daugherty Phenotypes for gene: ISCU were changed from Myopathy with lactic acidosis, hereditary; Myopathy with lactic acidosis, hereditary, 255125 to Myopathy with lactic acidosis, hereditary, 255125
Other rare neuromuscular disorders v0.40 LAMP2 Louise Daugherty Phenotypes for gene: LAMP2 were changed from vacuolar myopathy?; Danon disease to Vacuolar myopathy; Danon disease, 300257
Hereditary spastic paraplegia v1.178 SLC2A1 Rebecca Foulger commented on gene: SLC2A1: PMID:21832227 (Weber et al 2011) identified causative variants in SLC2A1 in a German/Dutch family and an Australian monozygotic twin pair with Dystonia. In their cohort of HSP patients, one missense variant (c.138G>C/p.Q46H) was detected in one case of German origin but functional studies indicated the variant was likely benign. The authors conclude that slowly progressive spastic paraparesis complicated by PED can therefore be regarded as a novel phenotype associated with SLC2A1 mutations. However, GLUT1 defects do not seem to play a major role in other forms of autosomal dominant HSP, as suggested by the absence of pathogenic mutations in 139 HSP index patients.
Other rare neuromuscular disorders v0.39 LARGE1 Louise Daugherty Phenotypes for gene: LARGE1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154; Congenital Muscular Dystrophy, alpha-dystroglycan related to Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154; Congenital Muscular Dystrophy, alpha-dystroglycan related
Other rare neuromuscular disorders v0.38 LDB3 Louise Daugherty Phenotypes for gene: LDB3 were changed from Myopathy, myofibrillar, 4, 609452; Myopathy, myofibrillar 4, 609452; Myofibrillar Myopathy, Dominant to Myopathy, myofibrillar 4, 609452; Myofibrillar Myopathy, Dominant
Other rare neuromuscular disorders v0.37 MEGF10 Louise Daugherty Phenotypes for gene: MEGF10 were changed from Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Myopathy, Early-Onset, Areflexia, Respiratory Distress, andDysphagia to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Myopathy, Early-Onset, Areflexia, Respiratory Distress, and Dysphagia
Other rare neuromuscular disorders v0.36 MICU1 Louise Daugherty Phenotypes for gene: MICU1 were changed from myopathy with extrapyramidal signs; Myopathy with extrapyramidal signs, 615673 (3) to Myopathy with extrapyramidal signs, 615673
Other rare neuromuscular disorders v0.35 MYH7 Louise Daugherty Phenotypes for gene: MYH7 were changed from Laing distal myopathy, 160500; Laing Distal Myopathy 160500 to Laing distal myopathy, 160500
Other rare neuromuscular disorders v0.34 MYOT Louise Daugherty Phenotypes for gene: MYOT were changed from Myopathy, myofibrillar, 3 609200; Myopathy, myofibrillar 3, 609200; Limb-Girdle Muscular Dystrophy, Dominant; Muscular dystrophy, limb-girdle, type 1A, 159000; Limb-girdle muscular dystrophy; Muscular dystrophy, limb-girdle, type 1A 159000; Myopathy, spheroid body 182920 to Myopathy, myofibrillar, 3 609200; Limb-Girdle Muscular Dystrophy, Dominant; Muscular dystrophy, limb-girdle, type 1A, 159000; Limb-girdle muscular dystrophy; Muscular dystrophy, limb-girdle, type 1A 159000; Myopathy, spheroid body 182920
Other rare neuromuscular disorders v0.33 NEB Louise Daugherty Phenotypes for gene: NEB were changed from Nemaline myopathy 2, 256030; Nemaline myopathy 2, autosomal recessive, 256030; Nemaline Myopathy, Recessive; nemaline myopathy to Nemaline myopathy 2, 256030; Nemaline myopathy 2, autosomal recessive, 256030; Nemaline Myopathy, Recessive
Other rare neuromuscular disorders v0.32 PRKAG2 Louise Daugherty Phenotypes for gene: PRKAG2 were changed from to Cardiomyopathy, hypertrophic 6, 600858; Glycogen storage disease of heart, lethal congenital, 261740; Wolff-Parkinson-White syndrome, 194200
Hereditary spastic paraplegia v1.178 SLC2A1 Rebecca Foulger commented on gene: SLC2A1
Other rare neuromuscular disorders v0.31 VMA21 Louise Daugherty Phenotypes for gene: VMA21 were changed from vacuolar myopathy? to vacuolar myopathy; Myopathy, X-linked, with excessive autophagy, 310440
Other rare neuromuscular disorders v0.30 ANO5 Louise Daugherty Phenotypes for gene: ANO5 were changed from Limb-Girdle Muscular Dystrophy, Recessive; Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319; Miyoshi muscular dystrophy 3; Limb-girdle muscular dystrophy; Gnathodiaphyseal dysplasia, 166260; Miyoshi muscular dystrophy 3, 613319; Gnathodiaphyseal dysplasia, 166260Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319 to Limb-Girdle Muscular Dystrophy, Recessive; Muscular dystrophy, limb-girdle, type 2L, 611307; Miyoshi muscular dystrophy 3, 613319; Miyoshi muscular dystrophy 3; Limb-girdle muscular dystrophy; Gnathodiaphyseal dysplasia, 166260; Miyoshi muscular dystrophy 3, 613319; Gnathodiaphyseal dysplasia, 166260; Muscular dystrophy, limb-girdle, type 2L, 611307; Miyoshi muscular dystrophy 3, 613319
Childhood onset hereditary spastic paraplegia v0.54 RAB3GAP2 Rebecca Foulger Classified gene: RAB3GAP2 as Red List (low evidence)
Childhood onset hereditary spastic paraplegia v0.54 RAB3GAP2 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Red following review on the Hereditary spastic paraplegia panel.
Childhood onset hereditary spastic paraplegia v0.54 RAB3GAP2 Rebecca Foulger Gene: rab3gap2 has been classified as Red List (Low Evidence).
Adult onset neurodegenerative disorder v0.102 RAB3GAP2 Rebecca Foulger Classified gene: RAB3GAP2 as Red List (low evidence)
Adult onset neurodegenerative disorder v0.102 RAB3GAP2 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Red following review on the Hereditary spastic paraplegia panel.
Adult onset neurodegenerative disorder v0.102 RAB3GAP2 Rebecca Foulger Gene: rab3gap2 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.178 RAB3GAP2 Rebecca Foulger Phenotypes for gene: RAB3GAP2 were changed from spastic paraplegia to spastic paraplegia; Warburg micro syndrome 2, 614225
Hereditary spastic paraplegia v1.177 RAB3GAP2 Rebecca Foulger Classified gene: RAB3GAP2 as Red List (low evidence)
Hereditary spastic paraplegia v1.177 RAB3GAP2 Rebecca Foulger Gene: rab3gap2 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.176 RAB3GAP2 Rebecca Foulger Classified gene: RAB3GAP2 as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.176 RAB3GAP2 Rebecca Foulger Added comment: Comment on list classification: Added to panel and rated Red by Chris Buxton (Bristol NHS). Kept rating as Red based on expert review and limited cases, as reviewed by Chris Buxton. OMIM lists progressive spastic diplegia to quadriplegia as a clinical symptom of Warburg micro syndrome 2, 614225.
Hereditary spastic paraplegia v1.176 RAB3GAP2 Rebecca Foulger Gene: rab3gap2 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.175 RAB3GAP2 Rebecca Foulger Publications for gene: RAB3GAP2 were set to 24482476; 29300443
Hereditary spastic paraplegia v1.174 RAB3GAP2 Rebecca Foulger Deleted their comment
Hereditary spastic paraplegia v1.174 RAB3GAP2 Rebecca Foulger commented on gene: RAB3GAP2
Hereditary spastic paraplegia v1.174 RAB3GAP2 Rebecca Foulger Publications for gene: RAB3GAP2 were set to 24482476
Childhood onset hereditary spastic paraplegia v0.53 LYST Rebecca Foulger Classified gene: LYST as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v0.53 LYST Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.
Childhood onset hereditary spastic paraplegia v0.53 LYST Rebecca Foulger Gene: lyst has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v0.52 LYST Rebecca Foulger Phenotypes for gene: LYST were changed from spastic paraplegia to spastic paraplegia; Chediak-Higashi syndrome, 214500
Childhood onset hereditary spastic paraplegia v0.51 LYST Rebecca Foulger Publications for gene: LYST were set to 24521565
Insulin resistance (including lipodystrophy) v1.9 LIPE Ivone Leong Classified gene: LIPE as Green List (high evidence)
Insulin resistance (including lipodystrophy) v1.9 LIPE Ivone Leong Gene: lipe has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.101 LYST Rebecca Foulger Publications for gene: LYST were set to 23436631; 11857544; 9215680; 8896560; 9215679; 24521565
Insulin resistance (including lipodystrophy) v1.8 LIPE Ivone Leong gene: LIPE was added
gene: LIPE was added to Insulin resistance (including lipodystrophy). Sources: Expert list
Mode of inheritance for gene: LIPE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPE were set to 27862896; 25475467; 24848981
Review for gene: LIPE was set to GREEN
Added comment: Keven Colclough (Royal Devon & Exeter Hospital) has recommended that this gene be included in this panel. LIPE is a green gene in the Lipodystrophy - childhood onset panel (Version 1.0). LIPE is confirmed to be associated to partial familial lipodystrophy in OMIM but not in Gene2Phenotype. There are 3 unrelated cases of patients with partial lipodystrophy with different variants in the LIPE gene.
Sources: Expert list
Hereditary spastic paraplegia v1.173 LYST Rebecca Foulger Phenotypes for gene: LYST were changed from spastic paraplegia to spastic paraplegia; Chediak-Higashi syndrome, 214500
Hereditary spastic paraplegia v1.172 LYST Rebecca Foulger Added comment: Comment on publications: PMIDs:25519960 and 25519961 are in Japanese.
Hereditary spastic paraplegia v1.172 LYST Rebecca Foulger Publications for gene: LYST were set to 24521565
Hereditary spastic paraplegia v1.171 LYST Rebecca Foulger Classified gene: LYST as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.171 LYST Rebecca Foulger Gene: lyst has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.170 LYST Rebecca Foulger Classified gene: LYST as Red List (low evidence)
Hereditary spastic paraplegia v1.170 LYST Rebecca Foulger Added comment: 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.
Hereditary spastic paraplegia v1.170 LYST Rebecca Foulger Gene: lyst has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.169 LYST Rebecca Foulger commented on gene: LYST: PMID:6307451 (Desai et al 2016) report 3 affected siblings with the late-onset form of CHS, and phenotypes including progressive spastic paraparesis.
Hereditary spastic paraplegia v1.169 LYST Rebecca Foulger commented on gene: LYST
Lipodystrophy - childhood onset v1.0 Ellen McDonagh promoted panel to version 1.0
Childhood onset hereditary spastic paraplegia v0.50 KLC4 Rebecca Foulger Classified gene: KLC4 as Red List (low evidence)
Childhood onset hereditary spastic paraplegia v0.50 KLC4 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Red following review on the Hereditary spastic paraplegia panel.
Childhood onset hereditary spastic paraplegia v0.50 KLC4 Rebecca Foulger Gene: klc4 has been classified as Red List (Low Evidence).
Childhood onset hereditary spastic paraplegia v0.49 KLC4 Rebecca Foulger Phenotypes for gene: KLC4 were changed from spastic paraplegia to spastic paraplegia; progressive complicated spastic paraplegia
Adult onset neurodegenerative disorder v0.100 KLC4 Rebecca Foulger Phenotypes for gene: KLC4 were changed from spastic paraplegia to spastic paraplegia; progressive complicated spastic paraplegia
Adult onset neurodegenerative disorder v0.99 KLC4 Rebecca Foulger Classified gene: KLC4 as Red List (low evidence)
Adult onset neurodegenerative disorder v0.99 KLC4 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Red following review on the Hereditary spastic paraplegia panel.
Adult onset neurodegenerative disorder v0.99 KLC4 Rebecca Foulger Gene: klc4 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.169 KLC4 Rebecca Foulger Classified gene: KLC4 as Red List (low evidence)
Hereditary spastic paraplegia v1.169 KLC4 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Red. Gene was added to panel and rated Red by Chris Buxton (Bristol NHS). As the reviewer notes, there is currently 1 family from 1 paper (PMID:26423925).
Hereditary spastic paraplegia v1.169 KLC4 Rebecca Foulger Gene: klc4 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.168 KLC4 Rebecca Foulger commented on gene: KLC4
Hereditary spastic paraplegia v1.168 KLC4 Rebecca Foulger Phenotypes for gene: KLC4 were changed from spastic paraplegia to spastic paraplegia; progressive complicated spastic paraplegia
White matter disorders and cerebral calcification - narrow panel v1.0 Louise Daugherty promoted panel to version 1.0
Childhood onset hereditary spastic paraplegia v0.48 KDM5C Rebecca Foulger Classified gene: KDM5C as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v0.48 KDM5C Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.
Childhood onset hereditary spastic paraplegia v0.48 KDM5C Rebecca Foulger Gene: kdm5c has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v0.47 KDM5C Rebecca Foulger Phenotypes for gene: KDM5C were changed from Intellectual disability; progressive spasticity; epilepsy; hypothyroidism; developmental delay to Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; Intellectual disability; progressive spasticity; epilepsy; hypothyroidism; developmental delay
Adult onset neurodegenerative disorder v0.98 KDM5C Rebecca Foulger Classified gene: KDM5C as Amber List (moderate evidence)
Adult onset neurodegenerative disorder v0.98 KDM5C Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.
Adult onset neurodegenerative disorder v0.98 KDM5C Rebecca Foulger Gene: kdm5c has been classified as Amber List (Moderate Evidence).
Adult onset neurodegenerative disorder v0.97 KDM5C Rebecca Foulger Phenotypes for gene: KDM5C were changed from Intellectual disability; developmental delay; progressive spasticity; epilepsy; hypothyroidism to Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; Intellectual disability; developmental delay; progressive spasticity; epilepsy; hypothyroidism
White matter disorders and cerebral calcification - narrow panel v0.18 ARSA Louise Daugherty Phenotypes for gene: ARSA were changed from Metachromatic leukodystrophy (Arylsulfatase A Deficiency) to Metachromatic leukodystrophy, 250100; Arylsulfatase A Deficiency
Hereditary spastic paraplegia v1.167 KDM5C Rebecca Foulger commented on gene: KDM5C: Added 'watchlist' tag.
Hereditary spastic paraplegia v1.167 KDM5C Rebecca Foulger Tag watchlist tag was added to gene: KDM5C.
Hereditary spastic paraplegia v1.167 KDM5C Rebecca Foulger Classified gene: KDM5C as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.167 KDM5C Rebecca Foulger Added comment: 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.
Hereditary spastic paraplegia v1.167 KDM5C Rebecca Foulger Gene: kdm5c has been classified as Amber List (Moderate Evidence).
White matter disorders and cerebral calcification - narrow panel v0.17 AP1S2 Louise Daugherty Phenotypes for gene: AP1S2 were changed from Calcifications in basal ganglia to Calcifications in basal ganglia; Mental retardation, X-linked syndromic 5, 304340
Insulin resistance (including lipodystrophy) v1.7 ADRA2A Ivone Leong commented on gene: ADRA2A: Familial partial lipodystrophy is not confirmed to be associated with ADRA2A in OMIM or Gene2Phenotype. There is only one variant reported (PMID: 27376152).
Hereditary spastic paraplegia v1.166 KDM5C Rebecca Foulger commented on gene: KDM5C: 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.
Hereditary spastic paraplegia v1.166 KDM5C Rebecca Foulger commented on gene: KDM5C
Insulin resistance (including lipodystrophy) v1.7 ADRA2A Ivone Leong gene: ADRA2A was added
gene: ADRA2A was added to Insulin resistance (including lipodystrophy). Sources: Expert list
Mode of inheritance for gene: ADRA2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ADRA2A were set to 27376152
Phenotypes for gene: ADRA2A were set to No OMIM number; familial partial lipodystrophy
Review for gene: ADRA2A was set to RED
Added comment: Gene added as recommended by Keven Colclough (Royal Devon & Exeter Hospital).
Sources: Expert list
Hereditary spastic paraplegia v1.166 KDM5C Rebecca Foulger Phenotypes for gene: KDM5C were changed from Intellectual disability; developmental delay; progressive spasticity; epilepsy; hypothyroidism to Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; Intellectual disability; developmental delay; progressive spasticity; epilepsy; hypothyroidism
White matter disorders and cerebral calcification - narrow panel v0.16 ASPA Louise Daugherty Phenotypes for gene: ASPA were changed from General Leukodystrophy & Mitochondrial Leukoencephalopathy; 25655951 to General Leukodystrophy & Mitochondrial Leukoencephalopathy, 25655951
Childhood onset hereditary spastic paraplegia v0.46 HACE1 Rebecca Foulger Classified gene: HACE1 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v0.46 HACE1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.
Childhood onset hereditary spastic paraplegia v0.46 HACE1 Rebecca Foulger Gene: hace1 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v0.45 HACE1 Rebecca Foulger Phenotypes for gene: HACE1 were changed from psychomotor retardation; Spastic paraplegia; seizure to psychomotor retardation; Spastic paraplegia; seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756
Adult onset neurodegenerative disorder v0.96 HACE1 Rebecca Foulger Classified gene: HACE1 as Amber List (moderate evidence)
Adult onset neurodegenerative disorder v0.96 HACE1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.
Adult onset neurodegenerative disorder v0.96 HACE1 Rebecca Foulger Gene: hace1 has been classified as Amber List (Moderate Evidence).
Adult onset neurodegenerative disorder v0.95 HACE1 Rebecca Foulger Phenotypes for gene: HACE1 were changed from Spastic paraplegia; psychomotor retardation; seizure to Spastic paraplegia; psychomotor retardation; seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756
Hereditary spastic paraplegia v1.165 HACE1 Rebecca Foulger Phenotypes for gene: HACE1 were changed from Spastic paraplegia; psychomotor retardation; seizure to Spastic paraplegia; psychomotor retardation; seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756
Hereditary spastic paraplegia v1.164 HACE1 Rebecca Foulger Classified gene: HACE1 as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.164 HACE1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber awaiting further clinical review. Gene added to panel and rated Amber by Chris Buxton (Bristol NHS) based on >3 cases of patients with 'Spastic paraplegia and psychomotor retardation with or without seizures, 616756' from 2 papers (Hollstein et al., 2015/PMID:26424145 and Akawi et al., 2015/PMID:26437029).
Hereditary spastic paraplegia v1.164 HACE1 Rebecca Foulger Gene: hace1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.66 GHR Ivone Leong Marked gene: GHR as ready
Pituitary hormone deficiency v0.66 GHR Ivone Leong Gene: ghr has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.66 GHR Ivone Leong Classified gene: GHR as Green List (high evidence)
Pituitary hormone deficiency v0.66 GHR Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. GHR is confirmed to be associated with the listed phenotypes in OMIM and Gene2Phenotype. It is also a green gene in the IUGR and IGF abnormalities (Version 1.25) panel. There are >3 unrelated cases of patients with Laron syndrome who have variants in the GHR gene listed in OMIM.
Pituitary hormone deficiency v0.66 GHR Ivone Leong Gene: ghr has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 BMP4 Ivone Leong Marked gene: BMP4 as ready
Pituitary hormone deficiency v0.65 BMP4 Ivone Leong Gene: bmp4 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.65 ARNT2 Ivone Leong Marked gene: ARNT2 as ready
Pituitary hormone deficiency v0.65 ARNT2 Ivone Leong Gene: arnt2 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.65 SHH Ivone Leong Tag watchlist tag was added to gene: SHH.
Pituitary hormone deficiency v0.65 CDON Ivone Leong Tag watchlist tag was added to gene: CDON.
Pituitary hormone deficiency v0.65 TCF7L1 Ivone Leong Marked gene: TCF7L1 as ready
Pituitary hormone deficiency v0.65 TCF7L1 Ivone Leong Gene: tcf7l1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.65 SHH Ivone Leong Marked gene: SHH as ready
Pituitary hormone deficiency v0.65 SHH Ivone Leong Gene: shh has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.65 KCNQ1 Ivone Leong Marked gene: KCNQ1 as ready
Pituitary hormone deficiency v0.65 KCNQ1 Ivone Leong Gene: kcnq1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.65 CDON Ivone Leong Marked gene: CDON as ready
Pituitary hormone deficiency v0.65 CDON Ivone Leong Gene: cdon has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.65 SOX3 Ivone Leong Marked gene: SOX3 as ready
Pituitary hormone deficiency v0.65 SOX3 Ivone Leong Gene: sox3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 SOX2 Ivone Leong Marked gene: SOX2 as ready
Pituitary hormone deficiency v0.65 SOX2 Ivone Leong Gene: sox2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 PROKR2 Ivone Leong Marked gene: PROKR2 as ready
Pituitary hormone deficiency v0.65 PROKR2 Ivone Leong Gene: prokr2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 PNPLA6 Ivone Leong Marked gene: PNPLA6 as ready
Pituitary hormone deficiency v0.65 PNPLA6 Ivone Leong Gene: pnpla6 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 OTX2 Ivone Leong Marked gene: OTX2 as ready
Pituitary hormone deficiency v0.65 OTX2 Ivone Leong Gene: otx2 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.44 ERLIN1 Rebecca Foulger Phenotypes for gene: ERLIN1 were changed from Hereditary spastic paraplegia to Hereditary spastic paraplegia - childhood onset
Pituitary hormone deficiency v0.65 IGSF1 Ivone Leong Marked gene: IGSF1 as ready
Pituitary hormone deficiency v0.65 IGSF1 Ivone Leong Gene: igsf1 has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.94 ERLIN1 Rebecca Foulger Phenotypes for gene: ERLIN1 were changed from Hereditary spastic paraplegia to Hereditary spastic paraplegia; Spastic paraplegia 62, 615681
Likely inborn error of metabolism v1.0 Ellen McDonagh promoted panel to version 1.0
Pituitary hormone deficiency v0.65 GNRHR Ivone Leong Marked gene: GNRHR as ready
Pituitary hormone deficiency v0.65 GNRHR Ivone Leong Gene: gnrhr has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 GLI3 Ivone Leong Marked gene: GLI3 as ready
Pituitary hormone deficiency v0.65 GLI3 Ivone Leong Gene: gli3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 GLI2 Ivone Leong Marked gene: GLI2 as ready
Pituitary hormone deficiency v0.65 GLI2 Ivone Leong Gene: gli2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 GHSR Ivone Leong Marked gene: GHSR as ready
Pituitary hormone deficiency v0.65 GHSR Ivone Leong Gene: ghsr has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 GHRHR Ivone Leong Marked gene: GHRHR as ready
Pituitary hormone deficiency v0.65 GHRHR Ivone Leong Gene: ghrhr has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 GH1 Ivone Leong Marked gene: GH1 as ready
Pituitary hormone deficiency v0.65 GH1 Ivone Leong Gene: gh1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 FOXA2 Ivone Leong Marked gene: FOXA2 as ready
Pituitary hormone deficiency v0.65 FOXA2 Ivone Leong Gene: foxa2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 FGFR1 Ivone Leong Marked gene: FGFR1 as ready
Pituitary hormone deficiency v0.65 FGFR1 Ivone Leong Gene: fgfr1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 FGF8 Ivone Leong Marked gene: FGF8 as ready
Pituitary hormone deficiency v0.65 FGF8 Ivone Leong Gene: fgf8 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 CHD7 Ivone Leong Marked gene: CHD7 as ready
Pituitary hormone deficiency v0.65 CHD7 Ivone Leong Gene: chd7 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 BTK Ivone Leong Marked gene: BTK as ready
Pituitary hormone deficiency v0.65 BTK Ivone Leong Gene: btk has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 PROP1 Ivone Leong Marked gene: PROP1 as ready
Pituitary hormone deficiency v0.65 PROP1 Ivone Leong Gene: prop1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 POU1F1 Ivone Leong Marked gene: POU1F1 as ready
Pituitary hormone deficiency v0.65 POU1F1 Ivone Leong Gene: pou1f1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 LHX4 Ivone Leong Marked gene: LHX4 as ready
Pituitary hormone deficiency v0.65 LHX4 Ivone Leong Gene: lhx4 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 LHX3 Ivone Leong Marked gene: LHX3 as ready
Pituitary hormone deficiency v0.65 LHX3 Ivone Leong Gene: lhx3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 HESX1 Ivone Leong Marked gene: HESX1 as ready
Pituitary hormone deficiency v0.65 HESX1 Ivone Leong Gene: hesx1 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.163 ERLIN1 Rebecca Foulger Phenotypes for gene: ERLIN1 were changed from Hereditary spastic paraplegia to Hereditary spastic paraplegia; Spastic paraplegia 62, 615681
Hereditary spastic paraplegia v1.162 ERLIN1 Rebecca Foulger Classified gene: ERLIN1 as Green List (high evidence)
Hereditary spastic paraplegia v1.162 ERLIN1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green based on expert review and literature evidence. Gene added to panel and rated green by Alistair Pagnamenta (University of Oxford) based on PMID:24482476 which identified 7 HSP individuals from 3 families with homozygous variants in ERLIN1. Full phenotypes of affected individuals are supplied in the supplementary material.
Hereditary spastic paraplegia v1.162 ERLIN1 Rebecca Foulger Gene: erlin1 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.161 ERLIN1 Rebecca Foulger commented on gene: ERLIN1
Childhood onset hereditary spastic paraplegia v0.43 DARS Rebecca Foulger Classified gene: DARS as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v0.43 DARS Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.
Childhood onset hereditary spastic paraplegia v0.43 DARS Rebecca Foulger Gene: dars has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v0.42 DARS Rebecca Foulger Phenotypes for gene: DARS were changed from leg spasticity; Brain stem and spinal cord Hypomyelination to Brain stem and spinal cord Hypomyelination; leg spasticity; Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
Adult onset neurodegenerative disorder v0.93 DARS Rebecca Foulger Phenotypes for gene: DARS were changed from Brain stem and spinal cord Hypomyelination; leg spasticity to Brain stem and spinal cord Hypomyelination; leg spasticity; Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
Adult onset neurodegenerative disorder v0.92 DARS Rebecca Foulger Classified gene: DARS as Amber List (moderate evidence)
Adult onset neurodegenerative disorder v0.92 DARS Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.
Adult onset neurodegenerative disorder v0.92 DARS Rebecca Foulger Gene: dars has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.161 DARS Rebecca Foulger Classified gene: DARS as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.161 DARS Rebecca Foulger Added comment: 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.
Hereditary spastic paraplegia v1.161 DARS Rebecca Foulger Gene: dars has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.160 DARS Rebecca Foulger commented on gene: DARS
Hereditary spastic paraplegia v1.160 DARS Rebecca Foulger Phenotypes for gene: DARS were changed from Brain stem and spinal cord Hypomyelination; leg spasticity to Brain stem and spinal cord Hypomyelination; leg spasticity; Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
Childhood onset hereditary spastic paraplegia v0.41 CYP27A1 Rebecca Foulger Classified gene: CYP27A1 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v0.41 CYP27A1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.
Childhood onset hereditary spastic paraplegia v0.41 CYP27A1 Rebecca Foulger Gene: cyp27a1 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v0.40 CYP27A1 Rebecca Foulger Phenotypes for gene: CYP27A1 were changed from progressive lower extremity spasticity,often disproportionate to any degree of weakness to Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness
Childhood onset hereditary spastic paraplegia v0.39 CYP27A1 Rebecca Foulger Publications for gene: CYP27A1 were set to 25862734
Adult onset neurodegenerative disorder v0.91 CYP27A1 Rebecca Foulger Phenotypes for gene: CYP27A1 were changed from Dystonia; progressive lower extremity spasticity,often disproportionate to any degree of weakness to Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness
Pituitary hormone deficiency v0.65 TBX19 Ivone Leong Marked gene: TBX19 as ready
Pituitary hormone deficiency v0.65 TBX19 Ivone Leong Gene: tbx19 has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.90 CYP27A1 Rebecca Foulger Publications for gene: CYP27A1 were set to 25862734
Pituitary hormone deficiency v0.65 TBX19 Ivone Leong Publications for gene: TBX19 were set to
Pituitary hormone deficiency v0.64 TBX19 Ivone Leong Classified gene: TBX19 as Green List (high evidence)
Pituitary hormone deficiency v0.64 TBX19 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. TBX19 is confirmed to be associated with Adrenocorticotropic hormone deficiency in OMIM but not in Gene2Phenotype. It is also a green gene in the Congenital adrenal hypoplasia (Version 1.7) panel. There are >3 unrelated cases of patients with variants in TBX19 in OMIM.
Pituitary hormone deficiency v0.64 TBX19 Ivone Leong Gene: tbx19 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.159 CYP27A1 Rebecca Foulger Publications for gene: CYP27A1 were set to 25862734; 26874936; 28623566; 27455001; 29321515
Hereditary spastic paraplegia v1.158 CYP27A1 Rebecca Foulger Phenotypes for gene: CYP27A1 were changed from progressive lower extremity spasticity,often disproportionate to any degree of weakness to Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness
Pituitary hormone deficiency v0.63 PITX2 Ivone Leong Marked gene: PITX2 as ready
Pituitary hormone deficiency v0.63 PITX2 Ivone Leong Gene: pitx2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.63 PITX2 Ivone Leong commented on gene: PITX2
Hereditary spastic paraplegia v1.157 CYP27A1 Rebecca Foulger Classified gene: CYP27A1 as Amber List (moderate evidence)
Hereditary spastic paraplegia v1.157 CYP27A1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber awaiting further clinical review. CYP27A1 was added to panel and rated Amber by Chris Buxton (Bristol NHS). Multiple cases from literature of spastic paresis presenting with Cerebrotendinous xanthomatosis (CTX), which is caused by variants in CYP27A1.
Hereditary spastic paraplegia v1.157 CYP27A1 Rebecca Foulger Gene: cyp27a1 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia v1.156 CYP27A1 Rebecca Foulger Publications for gene: CYP27A1 were set to 25862734
Hereditary spastic paraplegia v1.155 CYP27A1 Rebecca Foulger commented on gene: CYP27A1: PMID:29321515 (Sekijima et al, 2018) conducted a Japanese survey on Cerebrotendinous xanthomatosis (CTX). The most common initial symptom was tendon xanthoma, followed next by spastic paraplegia, cognitive dysfunction, cataract, ataxia, and epilepsy.
Hereditary spastic paraplegia v1.155 CYP27A1 Rebecca Foulger commented on gene: CYP27A1: PMID:27455001 (Zhang et al 2017) report a 27 year old male with mental retardation and subsequently memory lapses, ataxia, spastic paraplegia and fuzzy language. The patient was found to have a compound het variant in CYP27A1. The article is in Chinese, preventing further reading.
Hereditary spastic paraplegia v1.155 CYP27A1 Rebecca Foulger commented on gene: CYP27A1: PMID:28623566 (Chen et al 2017) investigated clinical symptoms of Chinese CTX patients. Three novel variants of p.Arg513Cys, c.1477-2A>C in family 1 and p.Arg188Stop in family 4 (NM 000784.3) in CYP27A1 were found. The probands in the study manifested cerebellar ataxia, tendon xanthoma and spastic paresis in family 1 and 4.
Hereditary spastic paraplegia v1.155 CYP27A1 Rebecca Foulger commented on gene: CYP27A1: PMID:26874936 (Rasafio et al 2016) report 2 Italian siblings from a consanguineous family with Cerebrotendinous xanthomatosis and different phenotypes but the same G-to-A transition causing splicing alteration. The 41 year old male presented with mutacism, spastic tetraparesis, bilateral pes cavus, sialorrhea, progressive dysphagia and head dystonia. Genetic testing of other family members revealed the same variant in a sister who had mild spastic paraparesis amongst her symptoms, and a status of asymptomatic carriers of heterozygous mutation in two sisters.
Hereditary spastic paraplegia v1.155 CYP27A1 Rebecca Foulger commented on gene: CYP27A1
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDKN2C Ivone Leong Marked gene: CDKN2C as ready
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDKN2C Ivone Leong Gene: cdkn2c has been classified as Red List (Low Evidence).
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDKN2B Ivone Leong Marked gene: CDKN2B as ready
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDKN2B Ivone Leong Gene: cdkn2b has been classified as Red List (Low Evidence).
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDKN2B Ivone Leong Marked gene: CDKN2B as ready
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDKN2B Ivone Leong Gene: cdkn2b has been classified as Red List (Low Evidence).
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDKN1A Ivone Leong Marked gene: CDKN1A as ready
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDKN1A Ivone Leong Gene: cdkn1a has been classified as Red List (Low Evidence).
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 RET Ivone Leong Marked gene: RET as ready
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 RET Ivone Leong Gene: ret has been classified as Green List (High Evidence).
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 MEN1 Ivone Leong Marked gene: MEN1 as ready
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 MEN1 Ivone Leong Gene: men1 has been classified as Green List (High Evidence).
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 GCM2 Ivone Leong Marked gene: GCM2 as ready
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 GCM2 Ivone Leong Gene: gcm2 has been classified as Green List (High Evidence).
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDKN1B Ivone Leong Marked gene: CDKN1B as ready
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDKN1B Ivone Leong Gene: cdkn1b has been classified as Green List (High Evidence).
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CASR Ivone Leong Marked gene: CASR as ready
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CASR Ivone Leong Gene: casr has been classified as Green List (High Evidence).
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDC73 Ivone Leong Marked gene: CDC73 as ready
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 CDC73 Ivone Leong Gene: cdc73 has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v0.17 CIDEC Ivone Leong Marked gene: CIDEC as ready
Lipodystrophy - childhood onset v0.17 CIDEC Ivone Leong Gene: cidec has been classified as Red List (Low Evidence).
Lipodystrophy - childhood onset v0.17 AKT2 Ivone Leong Marked gene: AKT2 as ready
Lipodystrophy - childhood onset v0.17 AKT2 Ivone Leong Gene: akt2 has been classified as Red List (Low Evidence).
Lipodystrophy - childhood onset v0.17 ADRA2A Ivone Leong Marked gene: ADRA2A as ready
Lipodystrophy - childhood onset v0.17 ADRA2A Ivone Leong Gene: adra2a has been classified as Red List (Low Evidence).
Lipodystrophy - childhood onset v0.17 LIPE Ivone Leong Marked gene: LIPE as ready
Lipodystrophy - childhood onset v0.17 LIPE Ivone Leong Gene: lipe has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v0.17 LIPE Ivone Leong commented on gene: LIPE: Keven Colclough (Royal Devon & Exeter Hospital) has agreed that LIPE should be promoted to green gene status.
Likely inborn error of metabolism v0.25 GLUD1 Ellen McDonagh Added comment: Comment on mode of pathogenicity: Mutation consequence summary from G2P = activating. OMIM reports several missense variants.
Likely inborn error of metabolism v0.25 GLUD1 Ellen McDonagh Mode of pathogenicity for gene: GLUD1 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
Childhood onset hereditary spastic paraplegia v0.38 ATP13A2 Rebecca Foulger Classified gene: ATP13A2 as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v0.38 ATP13A2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel. Note that this gene may not be appropriate for a childhood onset panel.
Childhood onset hereditary spastic paraplegia v0.38 ATP13A2 Rebecca Foulger Gene: atp13a2 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.37 ATP13A2 Rebecca Foulger Publications for gene: ATP13A2 were set to 28137957
Childhood onset hereditary spastic paraplegia v0.36 ATP13A2 Rebecca Foulger Phenotypes for gene: ATP13A2 were changed from Adult-onset lower-limb predominant spastic paraparesis to Adult-onset lower-limb predominant spastic paraparesis; Spastic paraplegia 78, autosomal recessive, 617225; complicated hereditary spastic paraplegia
Adult onset neurodegenerative disorder v0.89 ATP13A2 Rebecca Foulger Phenotypes for gene: ATP13A2 were changed from Parkinson disease 9, 606693; Dystonia; Kufor-Rakeb syndrome; Kufor-Rakeb Syndrome; Parkinson disease; Adult-onset lower-limb predominant spastic paraparesis to Parkinson disease 9, 606693; Dystonia; Kufor-Rakeb syndrome; Kufor-Rakeb Syndrome; Parkinson disease; Adult-onset lower-limb predominant spastic paraparesis; Spastic paraplegia 78, autosomal recessive, 617225; complicated hereditary spastic paraplegia
Adult onset neurodegenerative disorder v0.88 ATP13A2 Rebecca Foulger Publications for gene: ATP13A2 were set to 28137957
Likely inborn error of metabolism v0.24 ISCA-37440-Loss Ellen McDonagh Marked Region: ISCA-37440-Loss as ready
Likely inborn error of metabolism v0.24 ISCA-37440-Loss Ellen McDonagh Added comment: Comment when marking as ready: Coordinates and information checked against the original source panels.
Likely inborn error of metabolism v0.24 ISCA-37440-Loss Ellen McDonagh Region: isca-37440-loss has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.155 ATP13A2 Rebecca Foulger Phenotypes for gene: ATP13A2 were changed from Adult-onset lower-limb predominant spastic paraparesis to Adult-onset lower-limb predominant spastic paraparesis; Spastic paraplegia 78, autosomal recessive, 617225; complicated hereditary spastic paraplegia
Likely inborn error of metabolism v0.24 ISCA-37440-Loss Ellen McDonagh commented on Region: ISCA-37440-Loss
Hereditary spastic paraplegia v1.154 ATP13A2 Rebecca Foulger Publications for gene: ATP13A2 were set to 28137957
Hereditary spastic paraplegia v1.153 ATP13A2 Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic MOI supported by PMID:28137957 and OMIM.
Hereditary spastic paraplegia v1.153 ATP13A2 Rebecca Foulger Mode of inheritance for gene: ATP13A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia v1.152 ATP13A2 Rebecca Foulger Classified gene: ATP13A2 as Green List (high evidence)
Hereditary spastic paraplegia v1.152 ATP13A2 Rebecca Foulger Added comment: Comment on list classification: Updating rating from Red to Green based on literature evidence. ATP13A2 was added to panel and rated Red by Chris Buxton (Bristol NHS) although he provides evidence of 3 unrelated cases in PMID:28137957. PMID:27217339 (Kara et al 2016) provides evidence of an additional case. Therefore sufficient (4) unrelated cases to support diagnostic rating, and ATP13A2 is associated with Spastic paraplegia 78, autosomal recessive, 617225 in OMIM.
Hereditary spastic paraplegia v1.152 ATP13A2 Rebecca Foulger Gene: atp13a2 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.151 ATP13A2 Rebecca Foulger commented on gene: ATP13A2: In a 46-year-old man (proband 41), born of consanguineous Pakistani parents, with AR spastic paraplegia, Kara et al. (2016, PMID:27217339) identified a homozygous 3-bp deletion (c.3020_3022del, NM_001141974.2), resulting in an in-frame deletion (Phe1007del).
Hereditary spastic paraplegia v1.151 ATP13A2 Rebecca Foulger commented on gene: ATP13A2
Epidermolysis bullosa and congenital skin fragility v0.10 DSG3 Rebecca Foulger gene: DSG3 was added
gene: DSG3 was added to Epidermolysis bullosa and congenital skin fragility. Sources: NHS GMS
Mode of inheritance for gene: DSG3 was set to
Phenotypes for gene: DSG3 were set to mucosal fragility
DDG2P v0.43 H3F3A Rebecca Foulger Classified gene: H3F3A as No list
DDG2P v0.43 H3F3A Rebecca Foulger Added comment: Comment on list classification: Removed H3F3A from the DDG2P panel, as it is no longer listed in the DD-G2P download (January 7th 2018) and now has no disorder associated with it in Gene2Phenotype. It was originally added to the panel because it appeared in the DD-G2P download on November 6th 2018 associated with Craniofacial with neurodevelopment disorders.
DDG2P v0.43 H3F3A Rebecca Foulger Gene: h3f3a has been removed from the panel.
Intestinal failure or congenital diarrhoea v0.4 SLC9A3 Ivone Leong Source Expert Review Green was added to SLC9A3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v0.4 DGAT1 Ivone Leong Source Expert Review Green was added to DGAT1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v0.4 STXBP2 Ivone Leong Source Expert Review Green was added to STXBP2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v0.4 SPINT2 Ivone Leong Source Expert Review Green was added to SPINT2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v0.4 GUCY2C Ivone Leong Source Expert Review Green was added to GUCY2C.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v0.4 EPCAM Ivone Leong Source Expert Review Green was added to EPCAM.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v0.4 SLC26A3 Ivone Leong Source Expert Review Green was added to SLC26A3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v0.4 SKIV2L Ivone Leong Source Expert Review Green was added to SKIV2L.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v0.4 TTC37 Ivone Leong Source Expert Review Green was added to TTC37.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v0.4 STX3 Ivone Leong Source Expert Review Green was added to STX3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v0.4 MYO5B Ivone Leong Source Expert Review Green was added to MYO5B.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Intestinal failure or congenital diarrhoea v0.3 SLC9A3 Ivone Leong reviewed gene: SLC9A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure or congenital diarrhoea v0.3 DGAT1 Ivone Leong reviewed gene: DGAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure or congenital diarrhoea v0.3 STXBP2 Ivone Leong reviewed gene: STXBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure or congenital diarrhoea v0.3 SPINT2 Ivone Leong reviewed gene: SPINT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure or congenital diarrhoea v0.3 GUCY2C Ivone Leong reviewed gene: GUCY2C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure or congenital diarrhoea v0.3 EPCAM Ivone Leong reviewed gene: EPCAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure or congenital diarrhoea v0.3 SLC26A3 Ivone Leong reviewed gene: SLC26A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure or congenital diarrhoea v0.3 SKIV2L Ivone Leong reviewed gene: SKIV2L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure or congenital diarrhoea v0.3 TTC37 Ivone Leong reviewed gene: TTC37: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure or congenital diarrhoea v0.3 STX3 Ivone Leong reviewed gene: STX3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure or congenital diarrhoea v0.3 MYO5B Ivone Leong reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intestinal failure or congenital diarrhoea v0.2 SLC9A3 Ivone Leong gene: SLC9A3 was added
gene: SLC9A3 was added to Intestinal failure. Sources: NHS GMS
Mode of inheritance for gene: SLC9A3 was set to
Intestinal failure or congenital diarrhoea v0.2 DGAT1 Ivone Leong gene: DGAT1 was added
gene: DGAT1 was added to Intestinal failure. Sources: NHS GMS
Mode of inheritance for gene: DGAT1 was set to
Intestinal failure or congenital diarrhoea v0.2 STXBP2 Ivone Leong gene: STXBP2 was added
gene: STXBP2 was added to Intestinal failure. Sources: NHS GMS
Mode of inheritance for gene: STXBP2 was set to
Intestinal failure or congenital diarrhoea v0.2 SPINT2 Ivone Leong gene: SPINT2 was added
gene: SPINT2 was added to Intestinal failure. Sources: NHS GMS
Mode of inheritance for gene: SPINT2 was set to
Intestinal failure or congenital diarrhoea v0.2 GUCY2C Ivone Leong gene: GUCY2C was added
gene: GUCY2C was added to Intestinal failure. Sources: NHS GMS
Mode of inheritance for gene: GUCY2C was set to
Intestinal failure or congenital diarrhoea v0.2 EPCAM Ivone Leong gene: EPCAM was added
gene: EPCAM was added to Intestinal failure. Sources: NHS GMS
Mode of inheritance for gene: EPCAM was set to
Intestinal failure or congenital diarrhoea v0.2 SLC26A3 Ivone Leong gene: SLC26A3 was added
gene: SLC26A3 was added to Intestinal failure. Sources: NHS GMS
Mode of inheritance for gene: SLC26A3 was set to
Intestinal failure or congenital diarrhoea v0.2 SKIV2L Ivone Leong gene: SKIV2L was added
gene: SKIV2L was added to Intestinal failure. Sources: NHS GMS
Mode of inheritance for gene: SKIV2L was set to
Intestinal failure or congenital diarrhoea v0.2 TTC37 Ivone Leong gene: TTC37 was added
gene: TTC37 was added to Intestinal failure. Sources: NHS GMS
Mode of inheritance for gene: TTC37 was set to
Intestinal failure or congenital diarrhoea v0.2 STX3 Ivone Leong gene: STX3 was added
gene: STX3 was added to Intestinal failure. Sources: NHS GMS
Mode of inheritance for gene: STX3 was set to
Intestinal failure or congenital diarrhoea v0.2 MYO5B Ivone Leong gene: MYO5B was added
gene: MYO5B was added to Intestinal failure. Sources: NHS GMS
Mode of inheritance for gene: MYO5B was set to
DDG2P v0.42 NAXD Rebecca Foulger reviewed gene: NAXD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.41 NAXD Rebecca Foulger gene: NAXD was added
gene: NAXD was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: NAXD was set to
Publications for gene: NAXD were set to 30576410
Phenotypes for gene: NAXD were set to Neurodegenerative disorder exacerbated by febrile illnesses
Ductal plate malformation v1.3 PKD2 Ivone Leong edited their review of gene: PKD2: Added comment: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: PKD2; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Changed rating: GREEN
Ductal plate malformation v1.3 PKD1 Ivone Leong commented on gene: PKD1: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: PKD1; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Ductal plate malformation v1.3 DNAJB11 Ivone Leong reviewed gene: DNAJB11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v1.3 SEC61B Ivone Leong edited their review of gene: SEC61B: Added comment: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: SEC61B; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Changed rating: GREEN
Ductal plate malformation v1.3 ALG8 Ivone Leong commented on gene: ALG8: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: ALG8; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Ductal plate malformation v1.3 PKHD1 Ivone Leong commented on gene: PKHD1: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: PKHD1; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Ductal plate malformation v1.3 GANAB Ivone Leong commented on gene: GANAB: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: GANAB; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Ductal plate malformation v1.3 LRP5 Ivone Leong commented on gene: LRP5: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: LRP5; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Ductal plate malformation v1.3 SEC63 Ivone Leong edited their review of gene: SEC63: Added comment: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: SEC63; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Changed rating: GREEN
Ductal plate malformation v1.3 PRKCSH Ivone Leong edited their review of gene: PRKCSH: Added comment: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: PRKCSH; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Changed rating: GREEN
Ductal plate malformation v1.2 PKD2 Ivone Leong Source NHS GMS was added to PKD2.
Ductal plate malformation v1.2 PKD1 Ivone Leong Source NHS GMS was added to PKD1.
Ductal plate malformation v1.2 DNAJB11 Ivone Leong gene: DNAJB11 was added
gene: DNAJB11 was added to Polycystic liver disease. Sources: NHS GMS
Mode of inheritance for gene: DNAJB11 was set to
Ductal plate malformation v1.2 SEC61B Ivone Leong Source NHS GMS was added to SEC61B.
Ductal plate malformation v1.2 ALG8 Ivone Leong Source NHS GMS was added to ALG8.
Ductal plate malformation v1.2 PKHD1 Ivone Leong Source NHS GMS was added to PKHD1.
Ductal plate malformation v1.2 GANAB Ivone Leong Source NHS GMS was added to GANAB.
Ductal plate malformation v1.2 LRP5 Ivone Leong Source NHS GMS was added to LRP5.
Ductal plate malformation v1.2 SEC63 Ivone Leong Source NHS GMS was added to SEC63.
Ductal plate malformation v1.2 PRKCSH Ivone Leong Source NHS GMS was added to PRKCSH.
DDG2P v0.40 CHD3 Rebecca Foulger Publications for gene: CHD3 were set to
DDG2P v0.39 CDKN1C Rebecca Foulger Publications for gene: CDKN1C were set to 22634751
DDG2P v0.38 SLC25A4 Rebecca Foulger Publications for gene: SLC25A4 were set to 27693233
DDG2P v0.37 TELO2 Rebecca Foulger Publications for gene: TELO2 were set to 27132593
DDG2P v0.36 RAB18 Rebecca Foulger Publications for gene: RAB18 were set to 21473985
DDG2P v0.35 RAB3GAP1 Rebecca Foulger Publications for gene: RAB3GAP1 were set to 15696165; 10465117; 20512159; 15216543
DDG2P v0.34 AKT1 Rebecca Foulger Publications for gene: AKT1 were set to
DDG2P v0.33 MECP2 Rebecca Foulger Publications for gene: MECP2 were set to 11402105; 11238684
DDG2P v0.32 DNMT3A Rebecca Foulger Publications for gene: DNMT3A were set to 24614070
DDG2P v0.31 BCAP31 Rebecca Foulger Publications for gene: BCAP31 were set to 24011989
DDG2P v0.30 ARID1B Rebecca Foulger Publications for gene: ARID1B were set to 22426309; 22426308; 22405089
DDG2P v0.29 SMARCB1 Rebecca Foulger Added comment: Comment on phenotypes: Updated phenotype based on DD-G2P update, from ?COFFIN-SIRIS SYNDROME 135900 to EHMT1-like SYNDROME.
DDG2P v0.29 SMARCB1 Rebecca Foulger Phenotypes for gene: SMARCB1 were changed from ?COFFIN-SIRIS SYNDROME 135900; RHABDOID PREDISPOSITION SYNDROME 1 609322 to EHMT1-like SYNDROME; RHABDOID PREDISPOSITION SYNDROME 1 609322
DDG2P v0.28 SMARCB1 Rebecca Foulger Publications for gene: SMARCB1 were set to 9671307; 10739763; 10521299
DDG2P v0.27 TRIO Rebecca Foulger Publications for gene: TRIO were set to 26235986
DDG2P v0.26 TRIO Rebecca Foulger Added comment: Comment on mode of pathogenicity: DD-G2P update, curated Jan 8th 2019: mechanism changed from 'all missense/in frame' to 'uncertain'.
DDG2P v0.26 TRIO Rebecca Foulger Mode of pathogenicity for gene: TRIO was changed from Other - please provide details in the comments to None
DDG2P v0.25 MAF Rebecca Foulger Added comment: Comment on phenotypes: Updated phenotype from CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES to: Ayme-Gripp syndrome: CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES to reflect DD-G2P update.
DDG2P v0.25 MAF Rebecca Foulger Phenotypes for gene: MAF were changed from CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES; CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED 610202; CATARACT CONGENITAL CERULEAN TYPE 4 610202 to Ayme-Gripp syndrome: CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES; CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED 610202; CATARACT CONGENITAL CERULEAN TYPE 4 610202
DDG2P v0.24 FLNA Rebecca Foulger commented on gene: FLNA: DDG2P update, curated January 8th 2019: MOP for RONTOMETAPHYSEAL DYSPLASIA changed from 'uncertain' to 'gain of function'.No MOP change curated in PanelApp, because mechanism is listed as loss of function for some (but not all) DD-G2P disorders.
DDG2P v0.24 NFIA Rebecca Foulger Classified gene: NFIA as Amber List (moderate evidence)
DDG2P v0.24 NFIA Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber to reflect DD-G2P update. Previously rated Amber based on a 'possible' DD-G2P rating for CHROMOSOME 1P32-P31 DELETION SYNDROME. Now (January 8th 2019) rated Probable for 'Macrocephaly with intellectual disability'.
DDG2P v0.24 NFIA Rebecca Foulger Gene: nfia has been classified as Amber List (Moderate Evidence).
DDG2P v0.23 NFIA Rebecca Foulger Added comment: Comment on phenotypes: Updated phenotype to reflect DD-G2P update. Previous phenotype was CHROMOSOME 1P32-P31 DELETION SYNDROME 613735.
DDG2P v0.23 NFIA Rebecca Foulger Phenotypes for gene: NFIA were changed from CHROMOSOME 1P32-P31 DELETION SYNDROME 613735 to Macrocephaly with intellectual disability
Epidermolysis bullosa and congenital skin fragility v0.9 KRT2 Rebecca Foulger commented on gene: KRT2
Epidermolysis bullosa and congenital skin fragility v0.9 KRT10 Rebecca Foulger commented on gene: KRT10
Epidermolysis bullosa and congenital skin fragility v0.9 KRT1 Rebecca Foulger commented on gene: KRT1
Epidermolysis bullosa and congenital skin fragility v0.9 LAMA3 Rebecca Foulger commented on gene: LAMA3
Cholestasis v0.4 PEX2 Ivone Leong Source Expert Review Amber was added to PEX2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cholestasis v0.4 CC2D2A Ivone Leong Source Expert Review Amber was added to CC2D2A.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cholestasis v0.4 CYP7B1 Ivone Leong Source Expert Review Amber was added to CYP7B1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cholestasis v0.4 ALDOB Ivone Leong Source Expert Review Amber was added to ALDOB.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Cholestasis v0.4 PEX12 Ivone Leong Source Expert Review Green was added to PEX12.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 PEX26 Ivone Leong Source Expert Review Green was added to PEX26.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 PEX6 Ivone Leong Source Expert Review Green was added to PEX6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 SERPINA1 Ivone Leong Source Expert Review Green was added to SERPINA1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 PEX1 Ivone Leong Source Expert Review Green was added to PEX1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 USP53 Ivone Leong Source Expert Review Green was added to USP53.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 MYO5B Ivone Leong Source Expert Review Green was added to MYO5B.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 VPS33B Ivone Leong Source Expert Review Green was added to VPS33B.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 VIPAS39 Ivone Leong Source Expert Review Green was added to VIPAS39.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 UGT1A1 Ivone Leong Source Expert Review Green was added to UGT1A1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 TJP2 Ivone Leong Source Expert Review Green was added to TJP2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 TALDO1 Ivone Leong Source Expert Review Green was added to TALDO1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 SLC25A13 Ivone Leong Source Expert Review Green was added to SLC25A13.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 NR1H4 Ivone Leong Source Expert Review Green was added to NR1H4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 NPC2 Ivone Leong Source Expert Review Green was added to NPC2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 NPC1 Ivone Leong Source Expert Review Green was added to NPC1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 NOTCH2 Ivone Leong Source Expert Review Green was added to NOTCH2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 JAG1 Ivone Leong Source Expert Review Green was added to JAG1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 HSD3B7 Ivone Leong Source Expert Review Green was added to HSD3B7.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 GNAS Ivone Leong Source Expert Review Green was added to GNAS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 DCDC2 Ivone Leong Source Expert Review Green was added to DCDC2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 CYP7A1 Ivone Leong Source Expert Review Green was added to CYP7A1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 CYP27A1 Ivone Leong Source Expert Review Green was added to CYP27A1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 CLDN1 Ivone Leong Source Expert Review Green was added to CLDN1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 BCS1L Ivone Leong Source Expert Review Green was added to BCS1L.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 BAAT Ivone Leong Source Expert Review Green was added to BAAT.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 ATP8B1 Ivone Leong Source Expert Review Green was added to ATP8B1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 AMACR Ivone Leong Source Expert Review Green was added to AMACR.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 AKR1D1 Ivone Leong Source Expert Review Green was added to AKR1D1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 ABCC2 Ivone Leong Source Expert Review Green was added to ABCC2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 ABCB4 Ivone Leong Source Expert Review Green was added to ABCB4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.4 ABCB11 Ivone Leong Source Expert Review Green was added to ABCB11.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.3 PEX2 Ivone Leong reviewed gene: PEX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 CC2D2A Ivone Leong reviewed gene: CC2D2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 CYP7B1 Ivone Leong reviewed gene: CYP7B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 ALDOB Ivone Leong reviewed gene: ALDOB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 PEX12 Ivone Leong reviewed gene: PEX12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 PEX26 Ivone Leong reviewed gene: PEX26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 PEX6 Ivone Leong reviewed gene: PEX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 SERPINA1 Ivone Leong reviewed gene: SERPINA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 PEX1 Ivone Leong reviewed gene: PEX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 USP53 Ivone Leong reviewed gene: USP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 MYO5B Ivone Leong reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 VPS33B Ivone Leong reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 VIPAS39 Ivone Leong reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 UGT1A1 Ivone Leong reviewed gene: UGT1A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 TJP2 Ivone Leong reviewed gene: TJP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 TALDO1 Ivone Leong reviewed gene: TALDO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 SLC25A13 Ivone Leong reviewed gene: SLC25A13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 NR1H4 Ivone Leong reviewed gene: NR1H4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 NPC2 Ivone Leong reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 NPC1 Ivone Leong reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 NOTCH2 Ivone Leong reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 JAG1 Ivone Leong reviewed gene: JAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 HSD3B7 Ivone Leong reviewed gene: HSD3B7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 GNAS Ivone Leong reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 DCDC2 Ivone Leong reviewed gene: DCDC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 CYP7A1 Ivone Leong reviewed gene: CYP7A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 CYP27A1 Ivone Leong reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 CLDN1 Ivone Leong reviewed gene: CLDN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 BCS1L Ivone Leong reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 BAAT Ivone Leong reviewed gene: BAAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 ATP8B1 Ivone Leong reviewed gene: ATP8B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 AMACR Ivone Leong reviewed gene: AMACR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 AKR1D1 Ivone Leong reviewed gene: AKR1D1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 ABCC2 Ivone Leong reviewed gene: ABCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 ABCB4 Ivone Leong reviewed gene: ABCB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.3 ABCB11 Ivone Leong reviewed gene: ABCB11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.2 PEX2 Ivone Leong gene: PEX2 was added
gene: PEX2 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: PEX2 was set to
Cholestasis v0.2 CC2D2A Ivone Leong gene: CC2D2A was added
gene: CC2D2A was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: CC2D2A was set to
Cholestasis v0.2 CYP7B1 Ivone Leong gene: CYP7B1 was added
gene: CYP7B1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: CYP7B1 was set to
Cholestasis v0.2 ALDOB Ivone Leong gene: ALDOB was added
gene: ALDOB was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: ALDOB was set to
Cholestasis v0.2 PEX12 Ivone Leong gene: PEX12 was added
gene: PEX12 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: PEX12 was set to
Cholestasis v0.2 PEX26 Ivone Leong gene: PEX26 was added
gene: PEX26 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: PEX26 was set to
Cholestasis v0.2 PEX6 Ivone Leong gene: PEX6 was added
gene: PEX6 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: PEX6 was set to
Cholestasis v0.2 SERPINA1 Ivone Leong gene: SERPINA1 was added
gene: SERPINA1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: SERPINA1 was set to
Cholestasis v0.2 PEX1 Ivone Leong gene: PEX1 was added
gene: PEX1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: PEX1 was set to
Cholestasis v0.2 USP53 Ivone Leong gene: USP53 was added
gene: USP53 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: USP53 was set to
Cholestasis v0.2 MYO5B Ivone Leong gene: MYO5B was added
gene: MYO5B was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: MYO5B was set to
Cholestasis v0.2 VPS33B Ivone Leong gene: VPS33B was added
gene: VPS33B was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: VPS33B was set to
Cholestasis v0.2 VIPAS39 Ivone Leong gene: VIPAS39 was added
gene: VIPAS39 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: VIPAS39 was set to
Cholestasis v0.2 UGT1A1 Ivone Leong gene: UGT1A1 was added
gene: UGT1A1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: UGT1A1 was set to
Cholestasis v0.2 TJP2 Ivone Leong gene: TJP2 was added
gene: TJP2 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: TJP2 was set to
Cholestasis v0.2 TALDO1 Ivone Leong gene: TALDO1 was added
gene: TALDO1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: TALDO1 was set to
Cholestasis v0.2 SLC25A13 Ivone Leong gene: SLC25A13 was added
gene: SLC25A13 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: SLC25A13 was set to
Cholestasis v0.2 NR1H4 Ivone Leong gene: NR1H4 was added
gene: NR1H4 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: NR1H4 was set to
Cholestasis v0.2 NPC2 Ivone Leong gene: NPC2 was added
gene: NPC2 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: NPC2 was set to
Cholestasis v0.2 NPC1 Ivone Leong gene: NPC1 was added
gene: NPC1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: NPC1 was set to
Cholestasis v0.2 NOTCH2 Ivone Leong gene: NOTCH2 was added
gene: NOTCH2 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: NOTCH2 was set to
Cholestasis v0.2 JAG1 Ivone Leong gene: JAG1 was added
gene: JAG1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: JAG1 was set to
Cholestasis v0.2 HSD3B7 Ivone Leong gene: HSD3B7 was added
gene: HSD3B7 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: HSD3B7 was set to
Cholestasis v0.2 GNAS Ivone Leong gene: GNAS was added
gene: GNAS was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: GNAS was set to
Cholestasis v0.2 DCDC2 Ivone Leong gene: DCDC2 was added
gene: DCDC2 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: DCDC2 was set to
Cholestasis v0.2 CYP7A1 Ivone Leong gene: CYP7A1 was added
gene: CYP7A1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: CYP7A1 was set to
Cholestasis v0.2 CYP27A1 Ivone Leong gene: CYP27A1 was added
gene: CYP27A1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: CYP27A1 was set to
Cholestasis v0.2 CLDN1 Ivone Leong gene: CLDN1 was added
gene: CLDN1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: CLDN1 was set to
Cholestasis v0.2 BCS1L Ivone Leong gene: BCS1L was added
gene: BCS1L was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: BCS1L was set to
Cholestasis v0.2 BAAT Ivone Leong gene: BAAT was added
gene: BAAT was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: BAAT was set to
Cholestasis v0.2 ATP8B1 Ivone Leong gene: ATP8B1 was added
gene: ATP8B1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: ATP8B1 was set to
Cholestasis v0.2 AMACR Ivone Leong gene: AMACR was added
gene: AMACR was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: AMACR was set to
Cholestasis v0.2 AKR1D1 Ivone Leong gene: AKR1D1 was added
gene: AKR1D1 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: AKR1D1 was set to
Cholestasis v0.2 ABCC2 Ivone Leong gene: ABCC2 was added
gene: ABCC2 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: ABCC2 was set to
Cholestasis v0.2 ABCB4 Ivone Leong gene: ABCB4 was added
gene: ABCB4 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: ABCB4 was set to
Cholestasis v0.2 ABCB11 Ivone Leong gene: ABCB11 was added
gene: ABCB11 was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: ABCB11 was set to
Epidermolysis bullosa v1.6 CD151 Rebecca Foulger Phenotypes for gene: CD151 were changed from Nephropathy with pretibial epidermolysis bullosa and deafness, 609057; [Blood group, Raph], 179620 to Nephropathy with pretibial epidermolysis bullosa and deafness, 609057; [Blood group, Raph], 179620; Kindler syndrome-like epidermolysis bullosa
Epidermolysis bullosa v1.5 CD151 Rebecca Foulger Mode of inheritance for gene: CD151 was changed from to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa v1.4 CD151 Rebecca Foulger Publications for gene: CD151 were set to
Adult onset neurodegenerative disorder v0.87 ARG1 Louise Daugherty Phenotypes for gene: ARG1 were changed from Argininaemia 207800; Progressive spastic tetraplegia to Argininaemia, 207800; Progressive spastic tetraplegia
Adult onset neurodegenerative disorder v0.86 ARG1 Louise Daugherty Phenotypes for gene: ARG1 were changed from Argininaemia, 207800; Progressive spastic tetraplegia to Argininaemia 207800; Progressive spastic tetraplegia
Epidermolysis bullosa and congenital skin fragility v0.9 CD151 Rebecca Foulger Added comment: Comment on mode of inheritance: Homozygous CD151 variant reported in patient in PMID:29138120.
Epidermolysis bullosa and congenital skin fragility v0.9 CD151 Rebecca Foulger Mode of inheritance for gene: CD151 was changed from to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa and congenital skin fragility v0.8 CD151 Rebecca Foulger commented on gene: CD151
Epidermolysis bullosa and congenital skin fragility v0.8 CD151 Rebecca Foulger Phenotypes for gene: CD151 were changed from [Blood group, Raph], 179620; Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 to [Blood group, Raph], 179620; Nephropathy with pretibial epidermolysis bullosa and deafness, 609057; Kindler syndrome-like epidermolysis bullosa
Epidermolysis bullosa and congenital skin fragility v0.7 CD151 Rebecca Foulger Publications for gene: CD151 were set to
Pancreatitis v1.4 KRT8 Ivone Leong reviewed gene: KRT8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pancreatitis v1.4 CASR Ivone Leong reviewed gene: CASR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pancreatitis v1.4 PRSS2 Ivone Leong reviewed gene: PRSS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pancreatitis v1.4 CTSB Ivone Leong reviewed gene: CTSB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pancreatitis v1.4 CPA1 Ivone Leong reviewed gene: CPA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pancreatitis v1.4 CTRC Ivone Leong reviewed gene: CTRC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pancreatitis v1.4 CFTR Ivone Leong reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pancreatitis v1.4 SPINK1 Ivone Leong reviewed gene: SPINK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pancreatitis v1.4 PRSS1 Ivone Leong reviewed gene: PRSS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v0.35 ARG1 Rebecca Foulger Classified gene: ARG1 as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v0.35 ARG1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel.
Childhood onset hereditary spastic paraplegia v0.35 ARG1 Rebecca Foulger Gene: arg1 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.34 ARG1 Rebecca Foulger Publications for gene: ARG1 were set to 23859858; 26310552
Childhood onset hereditary spastic paraplegia v0.33 ARG1 Rebecca Foulger Phenotypes for gene: ARG1 were changed from Argininaemia; Progressive spastic tetraplegia to Argininaemia, 207800; Progressive spastic tetraplegia
Hereditary spastic paraplegia v1.151 ARG1 Rebecca Foulger Phenotypes for gene: ARG1 were changed from Argininaemia; Progressive spastic tetraplegia to Argininaemia, 207800; Progressive spastic tetraplegia
Adult onset neurodegenerative disorder v0.85 ARG1 Rebecca Foulger Phenotypes for gene: ARG1 were changed from Argininaemia; Progressive spastic tetraplegia to Argininaemia, 207800; Progressive spastic tetraplegia
Pancreatitis v1.3 KRT8 Ivone Leong gene: KRT8 was added
gene: KRT8 was added to Pancreatitis. Sources: NHS GMS
Mode of inheritance for gene: KRT8 was set to
Pancreatitis v1.3 CASR Ivone Leong Source NHS GMS was added to CASR.
Pancreatitis v1.3 PRSS2 Ivone Leong Source NHS GMS was added to PRSS2.
Pancreatitis v1.3 CTSB Ivone Leong Source NHS GMS was added to CTSB.
Pancreatitis v1.3 CPA1 Ivone Leong Source NHS GMS was added to CPA1.
Pancreatitis v1.3 CTRC Ivone Leong Source NHS GMS was added to CTRC.
Pancreatitis v1.3 CFTR Ivone Leong Source NHS GMS was added to CFTR.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pancreatitis v1.3 SPINK1 Ivone Leong Source NHS GMS was added to SPINK1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pancreatitis v1.3 PRSS1 Ivone Leong Source NHS GMS was added to PRSS1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Adult onset neurodegenerative disorder v0.84 ARG1 Rebecca Foulger Publications for gene: ARG1 were set to 26310552; 23859858
Adult onset neurodegenerative disorder v0.83 ARG1 Rebecca Foulger Classified gene: ARG1 as Green List (high evidence)
Adult onset neurodegenerative disorder v0.83 ARG1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel.
Adult onset neurodegenerative disorder v0.83 ARG1 Rebecca Foulger Gene: arg1 has been classified as Green List (High Evidence).
Non-acute porphyrias v0.4 GATA1 Ivone Leong Source Expert Review Green was added to GATA1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Non-acute porphyrias v0.4 ALAS2 Ivone Leong Source Expert Review Green was added to ALAS2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Non-acute porphyrias v0.4 CPOX Ivone Leong Source Expert Review Green was added to CPOX.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Non-acute porphyrias v0.4 UROD Ivone Leong Source Expert Review Green was added to UROD.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Non-acute porphyrias v0.4 FECH Ivone Leong Source Expert Review Green was added to FECH.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Non-acute porphyrias v0.4 UROS Ivone Leong Source Expert Review Green was added to UROS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Non-acute porphyrias v0.4 ALAD Ivone Leong Source Expert Review Green was added to ALAD.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Non-acute porphyrias v0.4 PPOX Ivone Leong Source Expert Review Green was added to PPOX.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Non-acute porphyrias v0.4 HMBS Ivone Leong Source Expert Review Green was added to HMBS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Non-acute porphyrias v0.3 GATA1 Ivone Leong reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Non-acute porphyrias v0.3 ALAS2 Ivone Leong reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Non-acute porphyrias v0.3 CPOX Ivone Leong reviewed gene: CPOX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Non-acute porphyrias v0.3 UROD Ivone Leong reviewed gene: UROD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Non-acute porphyrias v0.3 FECH Ivone Leong reviewed gene: FECH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Non-acute porphyrias v0.3 UROS Ivone Leong reviewed gene: UROS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Non-acute porphyrias v0.3 ALAD Ivone Leong reviewed gene: ALAD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Non-acute porphyrias v0.3 PPOX Ivone Leong reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Non-acute porphyrias v0.3 HMBS Ivone Leong reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Non-acute porphyrias v0.2 GATA1 Ivone Leong gene: GATA1 was added
gene: GATA1 was added to Non-acute porphyrias. Sources: NHS GMS
Mode of inheritance for gene: GATA1 was set to
Non-acute porphyrias v0.2 ALAS2 Ivone Leong gene: ALAS2 was added
gene: ALAS2 was added to Non-acute porphyrias. Sources: NHS GMS
Mode of inheritance for gene: ALAS2 was set to
Non-acute porphyrias v0.2 CPOX Ivone Leong gene: CPOX was added
gene: CPOX was added to Non-acute porphyrias. Sources: NHS GMS
Mode of inheritance for gene: CPOX was set to
Non-acute porphyrias v0.2 UROD Ivone Leong gene: UROD was added
gene: UROD was added to Non-acute porphyrias. Sources: NHS GMS
Mode of inheritance for gene: UROD was set to
Non-acute porphyrias v0.2 FECH Ivone Leong gene: FECH was added
gene: FECH was added to Non-acute porphyrias. Sources: NHS GMS
Mode of inheritance for gene: FECH was set to
Non-acute porphyrias v0.2 UROS Ivone Leong gene: UROS was added
gene: UROS was added to Non-acute porphyrias. Sources: NHS GMS
Mode of inheritance for gene: UROS was set to
Non-acute porphyrias v0.2 ALAD Ivone Leong gene: ALAD was added
gene: ALAD was added to Non-acute porphyrias. Sources: NHS GMS
Mode of inheritance for gene: ALAD was set to
Non-acute porphyrias v0.2 PPOX Ivone Leong gene: PPOX was added
gene: PPOX was added to Non-acute porphyrias. Sources: NHS GMS
Mode of inheritance for gene: PPOX was set to
Non-acute porphyrias v0.2 HMBS Ivone Leong gene: HMBS was added
gene: HMBS was added to Non-acute porphyrias. Sources: NHS GMS
Mode of inheritance for gene: HMBS was set to
Sporadic aniridia v0.15 ISCA-37401-Loss Ivone Leong Marked Region: ISCA-37401-Loss as ready
Sporadic aniridia v0.15 ISCA-37401-Loss Ivone Leong Region: isca-37401-loss has been classified as Green List (High Evidence).
Sporadic aniridia v0.15 ISCA-37401-Loss Ivone Leong Region: ISCA-37401-Loss was added
Region: ISCA-37401-Loss was added to Aniridia. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37401-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37401-Loss were set to Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome; 194072
Sporadic aniridia v0.14 ELP4 Ivone Leong Marked gene: ELP4 as ready
Sporadic aniridia v0.14 ELP4 Ivone Leong Gene: elp4 has been classified as Red List (Low Evidence).
Sporadic aniridia v0.14 TRIM44 Ivone Leong Marked gene: TRIM44 as ready
Sporadic aniridia v0.14 TRIM44 Ivone Leong Gene: trim44 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.150 ARG1 Rebecca Foulger Publications for gene: ARG1 were set to 26310552; 23859858
Hereditary spastic paraplegia v1.149 ARG1 Rebecca Foulger Classified gene: ARG1 as Green List (high evidence)
Hereditary spastic paraplegia v1.149 ARG1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green: ARG1 was added to the panel by Chris Buxton (Bristol NHS). Sufficient cases from PMID:23859858 (which overlaps with PMID:26310552) to support causation of progressive spastic tetraplegia. Additional cases are reported on OMIM: spastic tetraplegia was seen in a Japanese girl with argininemia and compound het variants in ARG1 (PMID:2365823, Haraguchi et al 1990), and in a Japanese patient identified by Uchino et al, 1992 (PMID:1463019) with compound het variants in ARG1.
Hereditary spastic paraplegia v1.149 ARG1 Rebecca Foulger Gene: arg1 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.148 ARG1 Rebecca Foulger commented on gene: ARG1: Wu (2013, 23859858) is very similar to PMID:26310552. They investigated 5 Chinese patients (3 boys, 2 girls) with argininemia in whom it mainly manifested as progressive spastic tetraplegia. Homozygous variants in ARG1 were found in patients 1 and 5, and compound het variants were found in patients 2, 3 and 4. Although not explicitly stated, from the text it sounds like the patients are not related.
Hereditary spastic paraplegia v1.148 ARG1 Rebecca Foulger commented on gene: ARG1
Childhood onset hereditary spastic paraplegia v0.32 ABCD1 Rebecca Foulger Publications for gene: ABCD1 were set to
Adult onset neurodegenerative disorder v0.82 ABCD1 Rebecca Foulger Publications for gene: ABCD1 were set to 11810273; 27084228; 11739809; 26049658
Adult onset neurodegenerative disorder v0.81 ABCD1 Rebecca Foulger Phenotypes for gene: ABCD1 were changed from Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation to Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation; spastic paraparesis
Childhood onset hereditary spastic paraplegia v0.31 ABCD1 Rebecca Foulger Phenotypes for gene: ABCD1 were changed from adrenal failure; VLCFA accumulation; Hereditary spastic paraplegia to adrenal failure; VLCFA accumulation; Hereditary spastic paraplegia; spastic paraparesis
Childhood onset hereditary spastic paraplegia v0.30 ABCD1 Rebecca Foulger Classified gene: ABCD1 as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v0.30 ABCD1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel.
Childhood onset hereditary spastic paraplegia v0.30 ABCD1 Rebecca Foulger Gene: abcd1 has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.80 ABCD1 Rebecca Foulger Classified gene: ABCD1 as Green List (high evidence)
Adult onset neurodegenerative disorder v0.80 ABCD1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel.
Adult onset neurodegenerative disorder v0.80 ABCD1 Rebecca Foulger Gene: abcd1 has been classified as Green List (High Evidence).
Sporadic aniridia v0.14 TRIM44 Ivone Leong Phenotypes for gene: TRIM44 were changed from ?Aniridia 3 to ?Aniridia 3, 617142
Sporadic aniridia v0.13 ELP4 Ivone Leong Phenotypes for gene: ELP4 were changed from ?Aniridia 2 to ?Aniridia 2, 617141
Hereditary spastic paraplegia v1.148 ABCD1 Rebecca Foulger Classified gene: ABCD1 as Green List (high evidence)
Hereditary spastic paraplegia v1.148 ABCD1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green. ABCD1 was added to panel and rated Green by Chris Buxton (Bristol NHS). Sufficient unrelated cases (>3) of patients with HSP phenotype and ABCD1 variant to support causation of spastic paraplegia (see comments on individual papers for details).
Hereditary spastic paraplegia v1.148 ABCD1 Rebecca Foulger Gene: abcd1 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.147 ABCD1 Rebecca Foulger Phenotypes for gene: ABCD1 were changed from Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation; spastic paraparesis to Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation; spastic paraparesis; Adrenoleukodystrophy, 300100
Hereditary spastic paraplegia v1.146 ABCD1 Rebecca Foulger Phenotypes for gene: ABCD1 were changed from Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation to Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation; spastic paraparesis
Hereditary spastic paraplegia v1.145 ABCD1 Rebecca Foulger Publications for gene: ABCD1 were set to
Hereditary spastic paraplegia v1.144 ABCD1 Rebecca Foulger commented on gene: ABCD1: O'Neill (2001, 11739809) identify a large kindred with AMN phenotype resembling X-linked dominant HSP. All obligate female carriers were clinically affected. A deletion of the ABCD1 gene ATG translation initiaion codon was detected leading to an N-terminally truncated protein.
Hereditary spastic paraplegia v1.144 ABCD1 Rebecca Foulger commented on gene: ABCD1: Koutsis (2015, 26049658) report a Greek family with 5 males and 2 females developing progressive spastic paraplegia. NGS of the proband revealed a novel frameshift mutation in ABCD1 (c.1174_1178del, p.Leu392Serfs*7), which segregated in all family members.
Hereditary spastic paraplegia v1.144 ABCD1 Rebecca Foulger commented on gene: ABCD1: Zhan 2013 (PMID:23664929) investigated a Chinese family with recessive HSP. A missense variant (c.1661G>A, p.R554H) was identified in ABCD1, which co-segregated with the disease.
Hereditary spastic paraplegia v1.144 ABCD1 Rebecca Foulger commented on gene: ABCD1: Balicza (2016, 27084228) carried out genetic testing for 58 probands with clinical features of HSP. Results included one hemizygous variant in ABCD1 (c.1553G>C, p.Arg518Pro) in a male patient with sporadic spastic paraparesis. His disease started at age 28. The authors report that there are other similar cases where ABCD1 variants mimic HSP.
Hereditary spastic paraplegia v1.144 ABCD1 Rebecca Foulger commented on gene: ABCD1
Lipodystrophy - childhood onset v0.17 LIPE Ivone Leong Marked gene: LIPE as ready
Lipodystrophy - childhood onset v0.17 LIPE Ivone Leong Gene: lipe has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v0.17 LIPE Ivone Leong Deleted their comment
Lipodystrophy - childhood onset v0.17 LIPE Ivone Leong Classified gene: LIPE as Green List (high evidence)
Lipodystrophy - childhood onset v0.17 LIPE Ivone Leong Added comment: Comment on list classification: Promoted from red to green gene. LIPE was included in the gene list as a red gene as suggested by Kevin Colclough (Royal Devon & Exeter Hospital). LIPE is confirmed to be associated to partial familial lipodystrophy in OMIM but not in Gene2Phenotype. There are 3 unrelated cases of patients with partial lipodystrophy with different variants in the LIPE gene. Therefore, LIPE has been promoted from red to green status.
Lipodystrophy - childhood onset v0.17 LIPE Ivone Leong Gene: lipe has been classified as Green List (High Evidence).
Intellectual disability v2.590 GRIN2D Louise Daugherty Phenotypes for gene: GRIN2D were changed from Epileptic encephalopathy, early infantile, 46 (MIM 617162) to Epileptic encephalopathy, early infantile, 46, 617162; intellectual disability
Lipodystrophy - childhood onset v0.16 LIPE Ivone Leong Classified gene: LIPE as Green List (high evidence)
Lipodystrophy - childhood onset v0.16 LIPE Ivone Leong Added comment: Comment on list classification: Promoted from red to green gene. LIPE was included in the gene list as a red gene as suggested by Kevin Colclough (Royal Devon & Exeter Hospital). LIPE is confirmed to be associated to partial familial lipodystrophy in OMIM but not in Gene2Phenotype. There are 3 unrelated cases of patients with partial lipodystrophy with different variants in the LIPE gene. Therefore, LIPE has been promoted from red to green status.
Lipodystrophy - childhood onset v0.16 LIPE Ivone Leong Gene: lipe has been classified as Green List (High Evidence).
Intellectual disability v2.589 GRIN2D Louise Daugherty Classified gene: GRIN2D as Green List (high evidence)
Intellectual disability v2.589 GRIN2D Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green
Intellectual disability v2.589 GRIN2D Louise Daugherty Gene: grin2d has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v0.15 LIPE Ivone Leong Publications for gene: LIPE were set to 27862896
Fetal anomalies v0.55 ATAD3A Rebecca Foulger Mode of pathogenicity for gene: ATAD3A 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
Fetal anomalies v0.54 ATAD3A Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'Both monoallelic and biallelic' to only monoallelic, based on Anna's review: Green rating is appropriate for monoallelic inheritance only as there is currently insufficient evidence for biallelic disorder.
Fetal anomalies v0.54 ATAD3A Rebecca Foulger Mode of inheritance for gene: ATAD3A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.53 ATAD3A Rebecca Foulger Classified gene: ATAD3A as Green List (high evidence)
Fetal anomalies v0.53 ATAD3A Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following review from Anna de Burca. Originally assigned an Amber rating because of different PAGE/DDG2P ratings for different disorders. Green rating is appropriate for monoallelic inheritance only, as stated in Anna's review.
Fetal anomalies v0.53 ATAD3A Rebecca Foulger Gene: atad3a has been classified as Green List (High Evidence).
Fetal anomalies v0.52 ATAD3A Rebecca Foulger Publications for gene: ATAD3A were set to
Lipodystrophy - childhood onset v0.14 ADRA2A Ivone Leong Marked gene: ADRA2A as ready
Lipodystrophy - childhood onset v0.14 ADRA2A Ivone Leong Added comment: Comment when marking as ready: ARDRA2A was included in this panel as a red gene as suggested by Keven Colclough (Royal Devon & Exeter Hospital). Familial partial lipodystrophy is not confirmed to be associated with ADRA2A in OMIM or Gene2Phenotype. There is only one variant reported (PMID: 27376152).
Lipodystrophy - childhood onset v0.14 ADRA2A Ivone Leong Gene: adra2a has been classified as Red List (Low Evidence).
Fetal anomalies v0.51 ATAD3A Rebecca Foulger Phenotypes for gene: ATAD3A were changed from ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy; ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy to ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy; ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy; Harel-Yoon syndrome, 617183
Fetal anomalies v0.50 PIEZO1 Rebecca Foulger Tag watchlist was removed from gene: PIEZO1.
Fetal anomalies v0.50 PIEZO1 Rebecca Foulger commented on gene: PIEZO1: Removed watchlist tag following clinical review by Anna de Burca.
Fetal anomalies v0.50 PIEZO1 Rebecca Foulger Added comment: Comment on mode of inheritance: Anna's suggestion of biallelic MOI is based on Lymphatic malformation 6 phenotype (MIM:616843) which has AR inheritance and fetally-relevant phenotype. After further discussion we agreed to include AD inheritance for PIEZO1 based on reviews on the Fetal hydrops panel: in summary, PMID:26333996 (Fotiou et al., 2015) reports that NIHF variably occurs in DHS (with AD inheritance), and a review by Tessa Homfray lists both AD and AR inheritance.
Fetal anomalies v0.50 PIEZO1 Rebecca Foulger Mode of inheritance for gene: PIEZO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lipodystrophy - childhood onset v0.14 AKT2 Ivone Leong Marked gene: AKT2 as ready
Lipodystrophy - childhood onset v0.14 AKT2 Ivone Leong Added comment: Comment when marking as ready: AKT2 was included in the gene list as suggested by Kevin Colclough (Royal Devon & Exeter Hospital). AKT2 is a red gene in the Insulin resistance (including lipodystrophy) (Version 1.6) panel and only 1 variant has been reported when this gene was reviewed for that panel (2016). There has not been any new variants for this gene.
Lipodystrophy - childhood onset v0.14 AKT2 Ivone Leong Gene: akt2 has been classified as Red List (Low Evidence).
Lipodystrophy - childhood onset v0.14 AKT2 Ivone Leong Publications for gene: AKT2 were set to
Fetal anomalies v0.49 BGN Rebecca Foulger commented on gene: BGN: Removed watchlist tag following clinical review by Anna de Burca.
Fetal anomalies v0.49 BGN Rebecca Foulger Tag watchlist was removed from gene: BGN.
Fetal anomalies v0.49 BGN Rebecca Foulger Classified gene: BGN as Amber List (moderate evidence)
Fetal anomalies v0.49 BGN Rebecca Foulger Added comment: Comment on list classification: Originally assigned an Amber rating because of different PAGE/DDG2P ratings for different disorders. Kept rating as Amber based on Anna's review: sufficient evidence for TAAD causation but phenotype presents later.
Fetal anomalies v0.49 BGN Rebecca Foulger Gene: bgn has been classified as Amber List (Moderate Evidence).
Lipodystrophy - childhood onset v0.13 AKT2 Ivone Leong Phenotypes for gene: AKT2 were changed from Diabetes mellitus, type II, 125853; Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900 to Diabetes mellitus, type II, 125853; Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900; Partial lipodystrophy
Fetal anomalies v0.48 BGN Rebecca Foulger Added comment: Comment on mode of inheritance: MOI listed in OMIM as XL for Meester-Loeys syndrome, and XLR for Spondyloepimetaphyseal dysplasia, X-linked.
Fetal anomalies v0.48 BGN Rebecca Foulger Mode of inheritance for gene: BGN was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.47 BGN Rebecca Foulger Phenotypes for gene: BGN were changed from Severe syndromic form of thoracic aortic aneurysm & dissection; X-Linked Spondyloepimetaphyseal Dysplasia to Severe syndromic form of thoracic aortic aneurysm & dissection; X-Linked Spondyloepimetaphyseal Dysplasia; Meester-Loeys syndrome, 300989; Spondyloepimetaphyseal dysplasia, X-linked, 300106
Fetal anomalies v0.46 BGN Rebecca Foulger Publications for gene: BGN were set to
Lipodystrophy - childhood onset v0.12 AKT2 Ivone Leong Phenotypes for gene: AKT2 were changed from Diabetes mellitus, type II, 125853 to Diabetes mellitus, type II, 125853; Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900
Lipodystrophy - childhood onset v0.11 CIDEC Ivone Leong Marked gene: CIDEC as ready
Lipodystrophy - childhood onset v0.11 CIDEC Ivone Leong Added comment: Comment when marking as ready: CIDEC was included in the gene list as suggested by Kevin Colclough (Royal Devon & Exeter Hospital). CIDEC is a red gene in the Insulin resistance (including lipodystrophy) (Version 1.6) panel and only 1 variant has been reported when this gene was reviewed for that panel (2016). There has not been any new variants for this gene.
Lipodystrophy - childhood onset v0.11 CIDEC Ivone Leong Gene: cidec has been classified as Red List (Low Evidence).
Inherited bleeding disorders v1.148 PTPRJ Louise Daugherty Classified gene: PTPRJ as Amber List (moderate evidence)
Inherited bleeding disorders v1.148 PTPRJ Louise Daugherty Gene: ptprj has been classified as Amber List (Moderate Evidence).
Inherited bleeding disorders v1.147 PTPRJ Louise Daugherty gene: PTPRJ was added
gene: PTPRJ was added to Inherited bleeding disorders. Sources: Literature
watchlist tags were added to gene: PTPRJ.
Mode of inheritance for gene: PTPRJ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPRJ were set to 30591527
Phenotypes for gene: PTPRJ were set to Thrombocytopenia; spontaneous bleeding, small-sized platelets, and impaired platelet responses to the GPVI agonists collagen and convulxin.
Review for gene: PTPRJ was set to AMBER
Added comment: Marconi C et al. Dec 2018 (PMID: 30591527) through exome sequencing of two siblings with autosomal recessive thrombocytopenia, identified two biallelic loss-of-function variants in the gene PTPRJ. They also investigated the pathogenic role of PTPRJ deficiency in hematopoiesis in vivo, carried out using CRISPR/Cas9-mediated ablation of ptprja (the ortholog of human PTPRJ) in zebrafish, which induced a significantly decreased number of CD41+ thrombocytes in vivo. Megakaryocytes of the patients showed impaired maturation and profound defects in SDF1-driven migration and formation of proplatelets in vitro. Silencing of PTPRJ in a human megakaryocytic cell line reproduced the functional defects observed in patients' megakaryocytes. The disorder caused by PTPRJ mutations presented as a non-syndromic thrombocytopenia characterized by spontaneous bleeding, small-sized platelets, and impaired platelet responses to the GPVI agonists collagen and convulxin.
Sources: Literature
Fetal anomalies v0.45 ITPR1 Rebecca Foulger Classified gene: ITPR1 as Amber List (moderate evidence)
Fetal anomalies v0.45 ITPR1 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber following email correspondance from Anna de Burca who notes that SCA15 is an adult onset condition and that ITPR1 is also associated with Gillespie syndrome which might possibly present prenatally with cerebellar hypoplasia but on balance it would be better to exclude. Therefore although there is sufficient evidence (>3 cases) for association with Gillespie syndrome, the phenotype is not appropriate for this Fetal panel.
Fetal anomalies v0.45 ITPR1 Rebecca Foulger Gene: itpr1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.44 ACTB Rebecca Foulger commented on gene: ACTB: Removed watchlist tag following clinical review by Anna de Burca.
Fetal anomalies v0.44 ACTB Rebecca Foulger Tag watchlist was removed from gene: ACTB.
Fetal anomalies v0.44 ACTB Rebecca Foulger Classified gene: ACTB as Green List (high evidence)
Fetal anomalies v0.44 ACTB Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following review and email correspondance from Anna de Burca. Originally assigned an Amber rating because of different PAGE/DDG2P ratings for different disorders. As summarised by Anna there is good evidence for GOF variants causing Baraitser-Winter syndrome plus some evidence for LOF variants associated (in some cases) with structural anomalies.
Fetal anomalies v0.44 ACTB Rebecca Foulger Gene: actb has been classified as Green List (High Evidence).
Fetal anomalies v0.43 ACTB Rebecca Foulger Added comment: Comment on mode of pathogenicity: Anna notes that there is good evidence for GOF variants causing Baraitser-Winter syndrome but there is also a paper from DDD (PMID:29220674) reporting LOF variants associated predominantly with developmental delay but in some cases structural anomalies including congenital heart defects and/or CAKUT- this may not be a severe enough prenatal phenotype for inclusion in a fetal panel but overall Anna notes that it is probably reasonable to report any variants in this gene, whether GOF or LOF. Therefore no exception to LOF was added to the MOP section.
Fetal anomalies v0.43 ACTB Rebecca Foulger Mode of pathogenicity for gene: ACTB was changed from to None
Fetal anomalies v0.42 ACTB Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI to 'NOT imprinted' based on Anna's review.
Fetal anomalies v0.42 ACTB Rebecca Foulger Mode of inheritance for gene: ACTB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.41 BGN Anna de Burca reviewed gene: BGN: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 27236923, 27632686; Phenotypes: Spondyloepimetaphyseal dysplasia, X-linked, Meester-Loeys syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.41 PIEZO1 Rebecca Foulger Publications for gene: PIEZO1 were set to 26333996
Fetal anomalies v0.40 ERCC4 Rebecca Foulger commented on gene: ERCC4: Removed watchlist tag following clinical review by Anna de Burca.
Fetal anomalies v0.40 ERCC4 Rebecca Foulger Tag watchlist was removed from gene: ERCC4.
Fetal anomalies v0.40 ERCC4 Rebecca Foulger Phenotypes for gene: ERCC4 were changed from XFE PROGEROID SYNDROME; FANCONI ANEMIA, COMPLEMENTATION GROUP Q; PRIMORDIAL DWARFISM; XERODERMA PIGMENTOSUM, GROUP F to XFE PROGEROID SYNDROME; FANCONI ANEMIA, COMPLEMENTATION GROUP Q; PRIMORDIAL DWARFISM; XERODERMA PIGMENTOSUM, GROUP F; Xeroderma pigmentosum, group F, 278760
Fetal anomalies v0.39 ERCC4 Rebecca Foulger Classified gene: ERCC4 as Green List (high evidence)
Fetal anomalies v0.39 ERCC4 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following email correspondance from Anna de Burca. Originally assigned an Amber rating because of different PAGE/DDG2P ratings for different disorders. Anna notes that ERCC4 is green on congenital anaemias panel for XP/progeroid syndrome and therefore Green rating is probably appropriate for Fetal anomalies panel also. Confirmed DD-G2P rating for XERODERMA PIGMENTOSUM, GROUP F.
Fetal anomalies v0.39 ERCC4 Rebecca Foulger Gene: ercc4 has been classified as Green List (High Evidence).
Fetal anomalies v0.38 TCTN1 Rebecca Foulger commented on gene: TCTN1: Removed watchlist tag following clinical review by Anna de Burca.
Fetal anomalies v0.38 TCTN1 Rebecca Foulger Tag watchlist was removed from gene: TCTN1.
Fetal anomalies v0.38 TCTN1 Rebecca Foulger Classified gene: TCTN1 as Green List (high evidence)
Fetal anomalies v0.38 TCTN1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following email correspondance from Anna de Burca. Originally assigned an Amber rating because of different PAGE/DDG2P ratings for different disorders. Anna notes that TCTN1 is Green on the 'Rare multisystem ciliopathy disorders' panel with Joubert syndrome phenotype, and therefore Green rating is appropriate for this Fetal anomalies panel. 3 cases from the literature to support Green rating: Two Bangladeshi sisters in PMID:21725307 with homozgyous variant in TCTN1. A compound het variant from PMID:26477546 in a male fetus, and PMID:26489806 report an additional compound het case.
Fetal anomalies v0.38 TCTN1 Rebecca Foulger Gene: tctn1 has been classified as Green List (High Evidence).
Fetal anomalies v0.37 IL11RA Rebecca Foulger commented on gene: IL11RA: Removed watchlist tag following clinical review by Anna de Burca.
Fetal anomalies v0.37 IL11RA Rebecca Foulger Tag watchlist was removed from gene: IL11RA.
Fetal anomalies v0.37 IL11RA Rebecca Foulger Phenotypes for gene: IL11RA were changed from Autosomal Recessive Craniosynostosis; Crouzon-like craniosynostosis to Autosomal Recessive Craniosynostosis; Crouzon-like craniosynostosis; Craniosynostosis and dental anomalies, 614188
Fetal anomalies v0.36 IL11RA Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic MOI listed on OMIM for Craniosynostosis and dental anomalies, 614188.
Fetal anomalies v0.36 IL11RA Rebecca Foulger Mode of inheritance for gene: IL11RA was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.35 IL11RA Rebecca Foulger Classified gene: IL11RA as Green List (high evidence)
Fetal anomalies v0.35 IL11RA Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following email correspondance from Anna de Burca. Originally assigned an Amber rating because of different PAGE/DDG2P ratings for different disorders. Rated as 'Confirmed' for AR Craniosynostosis. As noted by Anna, IL11RA is Green on the Craniosynostosis panel, so Green rating also appropriate for Fetal Anomalies panel.
Fetal anomalies v0.35 IL11RA Rebecca Foulger Gene: il11ra has been classified as Green List (High Evidence).
Fetal anomalies v0.34 ATAD3A Anna de Burca commented on gene: ATAD3A: PMID: 27640307 reports a recurrent de novo variant in ATAD3A in five unrelated individuals with developmental delay and hypotonia. Some individuals had peripheral neuropathy, optic atrophy and hypertrophic cardiomyopathy. A toxic gain of function mechanism was postulated. PMID: 28327206 reports an additional case with the same de novo variant. This individual had delayed motor development and hypotonia. PMID: 27640307 also reports a biallelic missense variant in siblings of distantly related parents with motor and speech delay, hypotonia, cerebellar atrophy, ataxia, seizures, muscle weakness, cataracts and optic nerve hypoplasia. There is insufficient evidence for this association at present. Therefore, this gene should be classified green with regard to monoallelic gain of function only.
Fetal anomalies v0.34 ATAD3A Anna de Burca reviewed gene: ATAD3A: Rating: GREEN; 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: 27640307, 28327206; Phenotypes: Harel-Yoon syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v2.588 LINS1 Konstantinos Varvagiannis reviewed gene: LINS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 23773660, 28181389, 30090841; Phenotypes: Mental retardation, autosomal recessive 27 (MIM 614340); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lipodystrophy - childhood onset v0.11 PLIN1 Ivone Leong Marked gene: PLIN1 as ready
Lipodystrophy - childhood onset v0.11 PLIN1 Ivone Leong Gene: plin1 has been classified as Amber List (Moderate Evidence).
Lipodystrophy - childhood onset v0.11 ZMPSTE24 Ivone Leong Marked gene: ZMPSTE24 as ready
Lipodystrophy - childhood onset v0.11 ZMPSTE24 Ivone Leong Gene: zmpste24 has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v0.11 PPARG Ivone Leong Marked gene: PPARG as ready
Lipodystrophy - childhood onset v0.11 PPARG Ivone Leong Gene: pparg has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v0.11 POLD1 Ivone Leong Marked gene: POLD1 as ready
Lipodystrophy - childhood onset v0.11 POLD1 Ivone Leong Gene: pold1 has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v0.11 LMNA Ivone Leong Marked gene: LMNA as ready
Lipodystrophy - childhood onset v0.11 LMNA Ivone Leong Gene: lmna has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v0.11 CAVIN1 Ivone Leong Marked gene: CAVIN1 as ready
Lipodystrophy - childhood onset v0.11 CAVIN1 Ivone Leong Gene: cavin1 has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v0.11 BSCL2 Ivone Leong Marked gene: BSCL2 as ready
Lipodystrophy - childhood onset v0.11 BSCL2 Ivone Leong Gene: bscl2 has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v0.11 AGPAT2 Ivone Leong Marked gene: AGPAT2 as ready
Lipodystrophy - childhood onset v0.11 AGPAT2 Ivone Leong Gene: agpat2 has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v0.11 LIPE Ivone Leong gene: LIPE was added
gene: LIPE was added to Lipodystrophy - childhood onset. Sources: Expert list,Expert Review
Mode of inheritance for gene: LIPE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPE were set to 27862896
Phenotypes for gene: LIPE were set to Lipodystrophy, familial partial, type 6, 615980
Lipodystrophy - childhood onset v0.10 ADRA2A Ivone Leong gene: ADRA2A was added
gene: ADRA2A was added to Lipodystrophy - childhood onset. Sources: Expert list,Literature
Mode of inheritance for gene: ADRA2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ADRA2A were set to 27376152
Phenotypes for gene: ADRA2A were set to No OMIM number; familial partial lipodystrophy
Lipodystrophy - childhood onset v0.9 AKT2 Ivone Leong gene: AKT2 was added
gene: AKT2 was added to Lipodystrophy - childhood onset. Sources: Expert list
Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AKT2 were set to Diabetes mellitus, type II, 125853
Lipodystrophy - childhood onset v0.8 CIDEC Ivone Leong gene: CIDEC was added
gene: CIDEC was added to Lipodystrophy - childhood onset. Sources: Expert list
Mode of inheritance for gene: CIDEC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CIDEC were set to Lipodystrophy, familial partial, type 5, 615238
Intellectual disability v2.588 MAPK8IP3 Konstantinos Varvagiannis reviewed gene: MAPK8IP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 25363768, 28213671, 28135719; Phenotypes: Abnormal muscle tone, Global developmental delay, Intellectual disability, Abnormality of nervous system morphology; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v2.588 MAPK8IP3 Konstantinos Varvagiannis Deleted their review
Intellectual disability v2.588 MAPK8IP3 Konstantinos Varvagiannis gene: MAPK8IP3 was added
gene: MAPK8IP3 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAPK8IP3 were set to 25363768; 28213671; 28135719
Penetrance for gene: MAPK8IP3 were set to unknown
Review for gene: MAPK8IP3 was set to GREEN
Added comment: Platzer et al. (doi.org/10.1016/j.ajhg.2018.12.008) report on 13 unrelated individuals with de novo pathogenic variants in MAPK8IP3.

The phenotype consisted - among others - of DD with ID (13/13) as well as variable brain anomalies (incl. cerebral or cerebellar atrophy, corpus callosum anomalies, perisylvian polymicrogyria, etc). Microcephaly, seizures, ataxia, ASD were features seen in fewer individuals.

The variants reported included 2 nonsense, 1 frameshift as well as 6 missense mutations (3 missense variants were found - each - in 2 or more individuals).

All three LoF variants were located in the first exon. (mRNA levels were not studied for these variants although NMD is presumed). The brain anomalies were more consistent for missense variants.

MAPK8IP3 appears intolerant to LoF variants (pLI of 1) with constraint also for missense variants (Z-score of 4.06).

In silico structural modeling was possible for 4 missense variants based on available crystal structures and different mechanisms were presumed (disruption of contacts between Leu444 of adjacent subunits, altered interaction between proximal residues at positions 461 and 466, or disruption of protein protein interactions).

The C.elegans MAPK8IP3 ortholog is encoded by the unc-16 gene. Impaired clearance and accumulation of organelles (incl. lysosomes) in axons is observed in unc-16 mutants (recessive phenotype).

For 6 variants, also conserved in C.elegans, mutants were engineered using CRISPR genome editing. The observed mutant phenotypes (increased axonal lysosomal density compared to controls for 2 variants, sluggish locomotion with lower swimming cycle rate for 1 nonsense and 4 missense variants) were rescued upon CRISPR reverse engineering of each mutant allele back to its wild-type sequence.

The authors cite 3 previous studies, in which individuals investigated for neurodevelopmental disorders where found to harbor de novo MAPK8IP3 variants, namely:
- PMID 25363768 (Iossifov et al.) : p.Tyr94Cys [ASD without ID]
- PMID 28213671 (Berger et al.) : p.Glu461Gly [Smith-Magenis-like phenotype)
- PMID 28135719 (DDD study) p.Arg1146Cys [This variant was found in 3 individuals in the study by Platzer et al.]
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A few additional individuals with neurodevelopmental disorders appear in the denovo-db after filtering for coding variants:
http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=MAPK8IP3
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NM_015133.4:c.111C>G (p.Tyr37Ter) has been submitted in ClinVar by the Undiagnosed Diseases Network (NIH) as likely pathogenic, associated with MAPK8IP3-related disorder (hypotonia, DD, EEG anomalies among the phenotypes). It is not clear whether this subject corresponds to individual #3 reported by the previous study (possibly not the case).
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MAPK8IP3 is not associated with any phenotype in OMIM, nor in G2P.
This gene is not commonly included in gene panels for ID.
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As a result, MAPK8IP3 can be considered for inclusion in this panel as green (rather than amber).
Sources: Literature
Arrhythmogenic right ventricular cardiomyopathy v1.8 Ellen McDonagh Panel name changed from Arrythmogenic cardiomyopathy to Arrhythmogenic cardiomyopathy
List of related panels changed from Arrhythmogenic Right Ventricular Cardiomyopathy to Arrhythmogenic Right Ventricular Cardiomyopathy;Arrythmogenic cardiomyopathy
Sporadic aniridia v0.12 PAX6 Ellen McDonagh Marked gene: PAX6 as ready
Sporadic aniridia v0.12 PAX6 Ellen McDonagh Gene: pax6 has been classified as Green List (High Evidence).
Paroxysmal central nervous system disorders v0.3 PRNP Ellen McDonagh Added phenotypes Cerebral amyloid angiopathy, PRNP-related for gene: PRNP
Paroxysmal central nervous system disorders v0.3 NKX2-1 Ellen McDonagh Added phenotypes Chorea, hereditary benign 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress for gene: NKX2-1
Paroxysmal central nervous system disorders v0.3 HTT Ellen McDonagh Added phenotypes Huntington disease for gene: HTT
Paroxysmal central nervous system disorders v0.3 GLA Ellen McDonagh Added phenotypes Fabry disease, for gene: GLA
Paroxysmal central nervous system disorders v0.3 ATP1A2 Ellen McDonagh Added phenotypes familial basilar migraine 602481; familial hemiplegic migraine type 2, 602481; alternating hemiplegia of childhood 104290 for gene: ATP1A2
Paroxysmal central nervous system disorders v0.3 ATN1 Ellen McDonagh Added phenotypes Dentatorubro-pallidoluysian atrophy for gene: ATN1
Paroxysmal central nervous system disorders v0.3 SLC6A4 Ellen McDonagh Added phenotypes SLC6A4-Related Behavior Disorders; {Anxiety-related personality traits} 607834; {Obsessive-compulsive disorder} for gene: SLC6A4
Paroxysmal central nervous system disorders v0.3 WNK1 Ellen McDonagh Added phenotypes HSAN 2; Neuropathy, hereditary sensory and autonomic, type II, 201300; Hereditary sensory and autonomic neuropathy type IIA for gene: WNK1
Paroxysmal central nervous system disorders v0.3 TTR Ellen McDonagh Added phenotypes Carpal tunnel syndrome, familial, 115430; Hereditary amyloidosis; Amyloidosis, hereditary, transthyretin-related, 105210; Familial amyloid polyneuropathy for gene: TTR
Paroxysmal central nervous system disorders v0.3 TRPV4 Ellen McDonagh Added phenotypes sexual disinhibition; apathi; feeling of unreality; impaired memory; impaired speech; altered tactile, gustative, and olphatory perceptions; compulsive eating and drinking (or decreased eating); irritability; recurrent hypersomnia; transient symptoms at the end, amnesia, moderate elation and insomnia; Monozygotic twins concordant for Kleine-Levin Syndrome; confusion; normality between episodes; behavioral disturbances; depression and anxiety for gene: TRPV4
Paroxysmal central nervous system disorders v0.3 TRPA1 Ellen McDonagh Added phenotypes Episodic pain syndrome, familial, 615040; Familial episodic pain syndrome type I for gene: TRPA1
Paroxysmal central nervous system disorders v0.3 SPTLC2 Ellen McDonagh Added phenotypes HSAN 1; Hereditary sensory and autonomic neuropathy type IC; Neuropathy, hereditary sensory and autonomic, type IC, 613640 for gene: SPTLC2
Paroxysmal central nervous system disorders v0.3 SPTLC1 Ellen McDonagh Added phenotypes HSAN 1; Neuropathy, hereditary sensory and autonomic, type IA, 162400; Hereditary sensory neuropathy type IA for gene: SPTLC1
Paroxysmal central nervous system disorders v0.3 SPR Ellen McDonagh Added phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716 for gene: SPR
Paroxysmal central nervous system disorders v0.3 SLC6A5 Ellen McDonagh Added phenotypes 614618 HYPEREKPLEXIA 3 for gene: SLC6A5
Paroxysmal central nervous system disorders v0.3 SLC2A1 Ellen McDonagh Added phenotypes EPILEPSY, IDIOPATHIC GENERALIZED; dystonia 9; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 DEFICIENCY SYNDROME 1 for gene: SLC2A1
Paroxysmal central nervous system disorders v0.3 SLC1A3 Ellen McDonagh Added phenotypes Episodic ataxia, type 6, 612656; EPISODIC ATAXIA, TYPE 6; Episodic Ataxia for gene: SLC1A3
Paroxysmal central nervous system disorders v0.3 SEPT9 Ellen McDonagh Added phenotypes Amyotrophy, hereditary neuralgic, 162100; Hereditary neuralgic amyotrophy for gene: SEPT9
Paroxysmal central nervous system disorders v0.3 SCN9A Ellen McDonagh Added phenotypes Paroxysmal extreme pain disorder, 167400; Congenital Indifference to Pain; Paroxysmal Extreme Pain Disorder; Erythermalgia, primary, AD, 133020; Paroxysmal extreme pain disorder, AD, 167400; Hereditary Sensory Neuropathy; Febrile seizures, familial, 3B, 613863; Insensitivity to pain, channelopathy-associated, 243000; Insensitivity to pain, congenital, AR, 243000; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Dysosteosclerosis; HSAN2D, autosomal recessive, AR, 243000; Small fiber neuropathy, AD,133020; Erythermalgia, primary, 133020; Erythermalgia, Primary for gene: SCN9A
Paroxysmal central nervous system disorders v0.3 SCN8A Ellen McDonagh Added phenotypes epilepsy; paroxysmal kinesigenic dyskinesias for gene: SCN8A
Paroxysmal central nervous system disorders v0.3 SCN4A Ellen McDonagh Added phenotypes Thyrotoxic Periodic Paralysis, Susceptibility To, 2; Hypokalemic periodic paralysis, type 2, 613; Potassium-Aggravated Myotonia; Hyperkalemic Periodic Paralysis; Myasthenic syndrome, acetazolamide-responsive, 614198; Hyperkalemic periodic paralysis, type 2, 170500; Episodic weakness; Myotonia; Hypokalemic Periodic Paralysis for gene: SCN4A
Paroxysmal central nervous system disorders v0.3 SCN1A Ellen McDonagh Added phenotypes Dravet syndrome; several epilepsy, convulsion and migraine disorders.; familial hemiplegic migraine 3 for gene: SCN1A
Paroxysmal central nervous system disorders v0.3 SCN11A Ellen McDonagh Added phenotypes Familial episodic pain syndrome; Episodic pain syndrome, familial, 3, 615552; Neuropathy, hereditary sensory and autonomic, type VII, 615548; Hereditary sensory and autonomic neuropathy type VII for gene: SCN11A
Paroxysmal central nervous system disorders v0.3 SCN10A Ellen McDonagh Added phenotypes Painful small fibre neuropathy; SFN; Small fibre neuropathy; Familial episodic pain syndrome-2; Episodic pain syndrome, familial, 2, 615551 for gene: SCN10A
Paroxysmal central nervous system disorders v0.3 RETREG1 Ellen McDonagh Added phenotypes Hereditary sensory and autonomic neuropathy; Neuropathy, hereditary sensory and autonomic, type IIB, 613115; HSAN 2B for gene: RETREG1
Paroxysmal central nervous system disorders v0.3 RAB7A Ellen McDonagh Added phenotypes Hereditary motor and sensory neuropathy IIB; Charcot-Marie-Tooth disease, type 2B, 600882; HSAN1/2B for gene: RAB7A
Paroxysmal central nervous system disorders v0.3 PYGM Ellen McDonagh Added phenotypes McArdle disease, 232600 for gene: PYGM
Paroxysmal central nervous system disorders v0.3 PRRT2 Ellen McDonagh Added phenotypes SEIZURES, BENIGN FAMILIAL INFANTILE, 2; episodic kinesigenic dyskinesia; EPISODIC KINESIGENIC DYSKINESIA 1; dystonia and occasionally hemiplegic migraine and epilepsy; CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS for gene: PRRT2
Paroxysmal central nervous system disorders v0.3 PRDM12 Ellen McDonagh Added phenotypes Neuropathy, hereditary sensory and autonomic, type VIII, 616488; Hereditary sensory and autonomic neuropathy type VIII; HSAN 8 for gene: PRDM12
Paroxysmal central nervous system disorders v0.3 PNKD Ellen McDonagh Added phenotypes PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 for gene: PNKD
Paroxysmal central nervous system disorders v0.3 PER2 Ellen McDonagh Added phenotypes Advanced sleep phase syndrome, familial, 1, 604348 for gene: PER2
Paroxysmal central nervous system disorders v0.3 NTRK2 Ellen McDonagh Added phenotypes Obesity, hyperphagia, and developmental delay, 613886 for gene: NTRK2
Paroxysmal central nervous system disorders v0.3 NTRK1 Ellen McDonagh Added phenotypes HSAN 4; Hereditary sensory neuropathy type IV; Insensitivity to pain, congenital, with anhidrosis, 256800 for gene: NTRK1
Paroxysmal central nervous system disorders v0.3 NGF Ellen McDonagh Added phenotypes Congenital sensory neuropathy with selective loss of small myelinated fibers; Neuropathy, hereditary sensory and autonomic, type V, 608654; Hereditary sensory neuropathy type V; HSAN 5 for gene: NGF
Paroxysmal central nervous system disorders v0.3 NAGLU Ellen McDonagh Added phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920; Late-onset painful sensory neuropathy, AD for gene: NAGLU
Paroxysmal central nervous system disorders v0.3 MPV17 Ellen McDonagh Added phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810; Navajo neurohepatopathy; Pain insensitivity for gene: MPV17
Paroxysmal central nervous system disorders v0.3 MOG Ellen McDonagh Added phenotypes Narcolepsy 7, 614250 for gene: MOG
Paroxysmal central nervous system disorders v0.3 KIF1A Ellen McDonagh Added phenotypes Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory, type IIC, 614213 for gene: KIF1A
Paroxysmal central nervous system disorders v0.3 KCNQ3 Ellen McDonagh Added phenotypes Seizures, benign neonatal, type 2, 121201 for gene: KCNQ3
Paroxysmal central nervous system disorders v0.3 KCNQ2 Ellen McDonagh Added phenotypes Myokymia, 121200; Seizures, benign neonatal, 1, 121200; Epileptic encephalopathy, early infantile, 7, 613720 for gene: KCNQ2
Paroxysmal central nervous system disorders v0.3 KCNK18 Ellen McDonagh Added phenotypes MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 for gene: KCNK18
Paroxysmal central nervous system disorders v0.3 KCNJ2 Ellen McDonagh Added phenotypes ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Episodic weakness; Periodic paralysis; Andersen syndrome; Hypokalemic Periodic Paralysis, Type 2 for gene: KCNJ2
Paroxysmal central nervous system disorders v0.3 KCNJ18 Ellen McDonagh Added phenotypes Hypokalemic Periodic Paralysis, Type 1 for gene: KCNJ18
Paroxysmal central nervous system disorders v0.3 KCNA1 Ellen McDonagh Added phenotypes Episodic Ataxia; EPISODIC ATAXIA, TYPE 1; Episodic ataxia/myokymia syndrome, 160120; EA1; Myokymia; myokymia with periodic ataxia; Episodic Ataxia, Type 1 for gene: KCNA1
Paroxysmal central nervous system disorders v0.3 HSPG2 Ellen McDonagh Added phenotypes Schwartz-Jampel syndrome, type 1, 255800 for gene: HSPG2
Paroxysmal central nervous system disorders v0.3 HLA-DQB1 Ellen McDonagh Added phenotypes Kleine-Levin hibernation syndrome 148840; narcolepsy for gene: HLA-DQB1
Paroxysmal central nervous system disorders v0.3 HCRT Ellen McDonagh Added phenotypes ?Narcolepsy 1, 161400 for gene: HCRT
Paroxysmal central nervous system disorders v0.3 GLRB Ellen McDonagh Added phenotypes 614619 HYPEREKPLEXIA 2 for gene: GLRB
Paroxysmal central nervous system disorders v0.3 GLRA1 Ellen McDonagh Added phenotypes 149400 HYPEREKPLEXIA, HEREDITARY 1 for gene: GLRA1
Paroxysmal central nervous system disorders v0.3 EXT1 Ellen McDonagh Added phenotypes Familial case of narcolepsy with cataplexy NT1 associated with multiple exostoses (one family) for gene: EXT1
Paroxysmal central nervous system disorders v0.3 ELP1 Ellen McDonagh Added phenotypes NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; Familial dysautonomia; Dysautonomia, familial, 223900 for gene: ELP1
Paroxysmal central nervous system disorders v0.3 EIF3G Ellen McDonagh Added phenotypes Narcolepsy for gene: EIF3G
Paroxysmal central nervous system disorders v0.3 DNMT1 Ellen McDonagh Added phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121; Neuropathy, hereditary sensory, type IE, 614116; CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT; ADCADN for gene: DNMT1
Paroxysmal central nervous system disorders v0.3 DMPK Ellen McDonagh Added phenotypes MYOTONIC DYSTROPHY 1 (DM1); Myotonia for gene: DMPK
Paroxysmal central nervous system disorders v0.3 CSNK1D Ellen McDonagh Added phenotypes Advanced sleep-phase syndrome, familial, 2, 615224 for gene: CSNK1D
Paroxysmal central nervous system disorders v0.3 CNBP Ellen McDonagh Added phenotypes Myotonia; MYOTONIC DYSTROPHY 2 (DM2) for gene: CNBP
Paroxysmal central nervous system disorders v0.3 CLTCL1 Ellen McDonagh Added phenotypes Congenital insensitivity to pain for gene: CLTCL1
Paroxysmal central nervous system disorders v0.3 CLCN1 Ellen McDonagh Added phenotypes Myotonia levior, recessive; Myotonia congenita, recessive, 255700; Hyperkalemic Periodic Paralysis; Myotonia Congenita; Myotonia; Myotonia congenita, dominant, 160800 for gene: CLCN1
Paroxysmal central nervous system disorders v0.3 CCT5 Ellen McDonagh Added phenotypes Neuropathy, hereditary sensory, with spastic paraplegia, 256840; HSAN with spastic paraplegia for gene: CCT5
Paroxysmal central nervous system disorders v0.3 CACNB4 Ellen McDonagh Added phenotypes {Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682; Episodic ataxia, type 5, 613855; Episodic Ataxia; EPISODIC ATAXIA, TYPE 5; EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682 for gene: CACNB4
Paroxysmal central nervous system disorders v0.3 CACNA1S Ellen McDonagh Added phenotypes Hypokalemic periodic paralysis, type 1, 170400 for gene: CACNA1S
Paroxysmal central nervous system disorders v0.3 CACNA1A Ellen McDonagh Added phenotypes Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500; EA2; Migraine, familial hemiplegic, 1, 141500; Episodic Ataxia, Type 2; familial hemiplegic migraine type 1, 141500; episodic ataxia type 2 (EA2),108500; Spinocerebellar ataxia 6, 183086; Episodic ataxia, type 2, 108500 for gene: CACNA1A
Paroxysmal central nervous system disorders v0.3 ATP7B Ellen McDonagh Added phenotypes Wilson disease 277900 for gene: ATP7B
Paroxysmal central nervous system disorders v0.3 ATP2A1 Ellen McDonagh Added phenotypes Brody myopathy 601003 for gene: ATP2A1
Paroxysmal central nervous system disorders v0.3 ATP1A3 Ellen McDonagh Added phenotypes DYSTONIA 12, 128235; ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820 for gene: ATP1A3
Paroxysmal central nervous system disorders v0.3 ATL3 Ellen McDonagh Added phenotypes Neuropathy, hereditary sensory, type IF, 615632; HSN1F for gene: ATL3
Paroxysmal central nervous system disorders v0.3 ATL1 Ellen McDonagh Added phenotypes Hereditary spastic paraplegia, 182600; Hereditary sensory neuropathy; HSN1D; Neuropathy, hereditary sensory, type ID, 613708 for gene: ATL1
Paroxysmal central nervous system disorders v0.3 AKR1C2 Ellen McDonagh Added phenotypes Obesity, hyperphagia, and developmental delay for gene: AKR1C2
Paroxysmal central nervous system disorders v0.3 ADCY5 Ellen McDonagh Added phenotypes Familial dyskinesia 606703; Dyskinesia, familial, with facial myokymia, 606703 for gene: ADCY5
Paroxysmal central nervous system disorders v0.2 PRNP Ellen McDonagh gene: PRNP was added
gene: PRNP was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRNP were set to 25287017; 27716661; 26768678; 24224623
Phenotypes for gene: PRNP were set to Cerebral amyloid angiopathy, PRNP-related
Paroxysmal central nervous system disorders v0.2 NKX2-1 Ellen McDonagh gene: NKX2-1 was added
gene: NKX2-1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NKX2-1 were set to 24555207
Phenotypes for gene: NKX2-1 were set to Chorea, hereditary benign 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress
Paroxysmal central nervous system disorders v0.2 HTT Ellen McDonagh gene: HTT was added
gene: HTT was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: HTT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HTT were set to Huntington disease
Mode of pathogenicity for gene: HTT was set to Other - please provide details in the comments
Paroxysmal central nervous system disorders v0.2 GLA Ellen McDonagh gene: GLA was added
gene: GLA was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: GLA were set to Fabry disease,
Paroxysmal central nervous system disorders v0.2 ATP1A2 Ellen McDonagh gene: ATP1A2 was added
gene: ATP1A2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A2 were set to 12539047; 12953268; 18056581
Phenotypes for gene: ATP1A2 were set to familial basilar migraine 602481; familial hemiplegic migraine type 2, 602481; alternating hemiplegia of childhood 104290
Paroxysmal central nervous system disorders v0.2 ATN1 Ellen McDonagh gene: ATN1 was added
gene: ATN1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATN1 were set to Dentatorubro-pallidoluysian atrophy
Mode of pathogenicity for gene: ATN1 was set to Other - please provide details in the comments
Paroxysmal central nervous system disorders v0.2 SLC6A4 Ellen McDonagh gene: SLC6A4 was added
gene: SLC6A4 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: SLC6A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC6A4 were set to 17101915; 16642437; 15642926
Phenotypes for gene: SLC6A4 were set to SLC6A4-Related Behavior Disorders; {Anxiety-related personality traits} 607834; {Obsessive-compulsive disorder}
Mode of pathogenicity for gene: SLC6A4 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Paroxysmal central nervous system disorders v0.2 WNK1 Ellen McDonagh gene: WNK1 was added
gene: WNK1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNK1 were set to 21625937; 15911806; 18521183; 15455397; 15060842; 16636245; 16946995
Phenotypes for gene: WNK1 were set to HSAN 2; Neuropathy, hereditary sensory and autonomic, type II, 201300; Hereditary sensory and autonomic neuropathy type IIA
Paroxysmal central nervous system disorders v0.2 TTR Ellen McDonagh gene: TTR was added
gene: TTR was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TTR were set to 12771253; The Metabolic and Molecular Bases of Inherited Disease. Vol. IV. 8th ed.Benson, M. D. Amyloidosis. In: Scriver, C. R et al.: New York: McGraw-Hill . 2001.; 25069833; 19365058; 28678039; 26800456; 8309582; 14640030; 16433699; 3011930
Phenotypes for gene: TTR were set to Carpal tunnel syndrome, familial, 115430; Hereditary amyloidosis; Amyloidosis, hereditary, transthyretin-related, 105210; Familial amyloid polyneuropathy
Paroxysmal central nervous system disorders v0.2 TRPV4 Ellen McDonagh gene: TRPV4 was added
gene: TRPV4 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPV4 were set to 22547884
Phenotypes for gene: TRPV4 were set to sexual disinhibition; apathi; feeling of unreality; impaired memory; impaired speech; altered tactile, gustative, and olphatory perceptions; compulsive eating and drinking (or decreased eating); irritability; recurrent hypersomnia; transient symptoms at the end, amnesia, moderate elation and insomnia; Monozygotic twins concordant for Kleine-Levin Syndrome; confusion; normality between episodes; behavioral disturbances; depression and anxiety
Paroxysmal central nervous system disorders v0.2 TRPA1 Ellen McDonagh gene: TRPA1 was added
gene: TRPA1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: TRPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRPA1 were set to 28314413; 20718100; 28436534; 24778270; 16564016; 20547126; 24564660; 21468319
Phenotypes for gene: TRPA1 were set to Episodic pain syndrome, familial, 615040; Familial episodic pain syndrome type I
Paroxysmal central nervous system disorders v0.2 SPTLC2 Ellen McDonagh gene: SPTLC2 was added
gene: SPTLC2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPTLC2 were set to 27025386; 26681808; 20920666; 12207934; 23658386
Phenotypes for gene: SPTLC2 were set to HSAN 1; Hereditary sensory and autonomic neuropathy type IC; Neuropathy, hereditary sensory and autonomic, type IC, 613640
Paroxysmal central nervous system disorders v0.2 SPTLC1 Ellen McDonagh gene: SPTLC1 was added
gene: SPTLC1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPTLC1 were set to 11242114; 15037712; 11242106
Phenotypes for gene: SPTLC1 were set to HSAN 1; Neuropathy, hereditary sensory and autonomic, type IA, 162400; Hereditary sensory neuropathy type IA
Paroxysmal central nervous system disorders v0.2 SPR Ellen McDonagh gene: SPR was added
gene: SPR was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: SPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716
Paroxysmal central nervous system disorders v0.2 SLC6A5 Ellen McDonagh gene: SLC6A5 was added
gene: SLC6A5 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC6A5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC6A5 were set to 16751771
Phenotypes for gene: SLC6A5 were set to 614618 HYPEREKPLEXIA 3
Paroxysmal central nervous system disorders v0.2 SLC2A1 Ellen McDonagh gene: SLC2A1 was added
gene: SLC2A1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SLC2A1 were set to 18451999; 19630075; 18577546
Phenotypes for gene: SLC2A1 were set to EPILEPSY, IDIOPATHIC GENERALIZED; dystonia 9; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 DEFICIENCY SYNDROME 1
Paroxysmal central nervous system disorders v0.2 SLC1A3 Ellen McDonagh gene: SLC1A3 was added
gene: SLC1A3 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC1A3 were set to 27829685; 16116111; 19139306
Phenotypes for gene: SLC1A3 were set to Episodic ataxia, type 6, 612656; EPISODIC ATAXIA, TYPE 6; Episodic Ataxia
Paroxysmal central nervous system disorders v0.2 SEPT9 Ellen McDonagh gene: SEPT9 was added
gene: SEPT9 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: SEPT9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SEPT9 were set to 19451530; 21556032; 16186812
Phenotypes for gene: SEPT9 were set to Amyotrophy, hereditary neuralgic, 162100; Hereditary neuralgic amyotrophy
Paroxysmal central nervous system disorders v0.2 SCN9A Ellen McDonagh gene: SCN9A was added
gene: SCN9A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SCN9A were set to 17145499; 16392115; 17679678; 17470132; 24813307; 28665811; 25316021; 16216943; 1536168; 24817410; 15958509; 28235406; 23596073; 17167479; 14985375
Phenotypes for gene: SCN9A were set to Paroxysmal extreme pain disorder, 167400; Congenital Indifference to Pain; Paroxysmal Extreme Pain Disorder; Erythermalgia, primary, AD, 133020; Paroxysmal extreme pain disorder, AD, 167400; Hereditary Sensory Neuropathy; Febrile seizures, familial, 3B, 613863; Insensitivity to pain, channelopathy-associated, 243000; Insensitivity to pain, congenital, AR, 243000; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Dysosteosclerosis; HSAN2D, autosomal recessive, AR, 243000; Small fiber neuropathy, AD,133020; Erythermalgia, primary, 133020; Erythermalgia, Primary
Paroxysmal central nervous system disorders v0.2 SCN8A Ellen McDonagh gene: SCN8A was added
gene: SCN8A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN8A were set to 26677014
Phenotypes for gene: SCN8A were set to epilepsy; paroxysmal kinesigenic dyskinesias
Paroxysmal central nervous system disorders v0.2 SCN4A Ellen McDonagh gene: SCN4A was added
gene: SCN4A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: SCN4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN4A were set to 17395131; 15534250
Phenotypes for gene: SCN4A were set to Thyrotoxic Periodic Paralysis, Susceptibility To, 2; Hypokalemic periodic paralysis, type 2, 613; Potassium-Aggravated Myotonia; Hyperkalemic Periodic Paralysis; Myasthenic syndrome, acetazolamide-responsive, 614198; Hyperkalemic periodic paralysis, type 2, 170500; Episodic weakness; Myotonia; Hypokalemic Periodic Paralysis
Paroxysmal central nervous system disorders v0.2 SCN1A Ellen McDonagh gene: SCN1A was added
gene: SCN1A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN1A were set to 16054936; 19332696
Phenotypes for gene: SCN1A were set to Dravet syndrome; several epilepsy, convulsion and migraine disorders.; familial hemiplegic migraine 3
Paroxysmal central nervous system disorders v0.2 SCN11A Ellen McDonagh gene: SCN11A was added
gene: SCN11A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCN11A were set to 24776970; 24207120; 27503742; 28665811; 24813307; 24036948; 25316021; 26645915; 28298626
Phenotypes for gene: SCN11A were set to Familial episodic pain syndrome; Episodic pain syndrome, familial, 3, 615552; Neuropathy, hereditary sensory and autonomic, type VII, 615548; Hereditary sensory and autonomic neuropathy type VII
Paroxysmal central nervous system disorders v0.2 SCN10A Ellen McDonagh gene: SCN10A was added
gene: SCN10A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: SCN10A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCN10A were set to 24776970; 27598514; 24813307; 28665811; 23115331; 26711856; 25316021; 24006052; 25250524
Phenotypes for gene: SCN10A were set to Painful small fibre neuropathy; SFN; Small fibre neuropathy; Familial episodic pain syndrome-2; Episodic pain syndrome, familial, 2, 615551
Paroxysmal central nervous system disorders v0.2 RYR1 Ellen McDonagh gene: RYR1 was added
gene: RYR1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.2 RETREG1 Ellen McDonagh gene: RETREG1 was added
gene: RETREG1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RETREG1 were set to 24327336; 21115472; 19838196
Phenotypes for gene: RETREG1 were set to Hereditary sensory and autonomic neuropathy; Neuropathy, hereditary sensory and autonomic, type IIB, 613115; HSAN 2B
Paroxysmal central nervous system disorders v0.2 RAB7A Ellen McDonagh gene: RAB7A was added
gene: RAB7A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: RAB7A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAB7A were set to 15455439; 12545426; 17060578
Phenotypes for gene: RAB7A were set to Hereditary motor and sensory neuropathy IIB; Charcot-Marie-Tooth disease, type 2B, 600882; HSAN1/2B
Paroxysmal central nervous system disorders v0.2 PYGM Ellen McDonagh gene: PYGM was added
gene: PYGM was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYGM were set to McArdle disease, 232600
Paroxysmal central nervous system disorders v0.2 PRRT2 Ellen McDonagh gene: PRRT2 was added
gene: PRRT2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: PRRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRRT2 were set to 22744660; 22101681; 22120146; 22399141
Phenotypes for gene: PRRT2 were set to SEIZURES, BENIGN FAMILIAL INFANTILE, 2; episodic kinesigenic dyskinesia; EPISODIC KINESIGENIC DYSKINESIA 1; dystonia and occasionally hemiplegic migraine and epilepsy; CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS
Paroxysmal central nervous system disorders v0.2 PRDM12 Ellen McDonagh gene: PRDM12 was added
gene: PRDM12 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM12 were set to 26975306; 26005867
Phenotypes for gene: PRDM12 were set to Neuropathy, hereditary sensory and autonomic, type VIII, 616488; Hereditary sensory and autonomic neuropathy type VIII; HSAN 8
Paroxysmal central nervous system disorders v0.2 PNKD Ellen McDonagh gene: PNKD was added
gene: PNKD was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PNKD were set to 15262732; 15496428; 15824259
Phenotypes for gene: PNKD were set to PAROXYSMAL NONKINESIGENIC DYSKINESIA 1
Paroxysmal central nervous system disorders v0.2 PER2 Ellen McDonagh gene: PER2 was added
gene: PER2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: PER2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PER2 were set to 11232563
Phenotypes for gene: PER2 were set to Advanced sleep phase syndrome, familial, 1, 604348
Paroxysmal central nervous system disorders v0.2 NTRK2 Ellen McDonagh gene: NTRK2 was added
gene: NTRK2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: NTRK2 was set to Unknown
Publications for gene: NTRK2 were set to 16702999; 15494731
Phenotypes for gene: NTRK2 were set to Obesity, hyperphagia, and developmental delay, 613886
Paroxysmal central nervous system disorders v0.2 NTRK1 Ellen McDonagh gene: NTRK1 was added
gene: NTRK1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NTRK1 were set to 11668614; 8696348; 18077166
Phenotypes for gene: NTRK1 were set to HSAN 4; Hereditary sensory neuropathy type IV; Insensitivity to pain, congenital, with anhidrosis, 256800
Paroxysmal central nervous system disorders v0.2 NGF Ellen McDonagh gene: NGF was added
gene: NGF was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: NGF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NGF were set to 20978020; 15131306; 26562335; 14976160
Phenotypes for gene: NGF were set to Congenital sensory neuropathy with selective loss of small myelinated fibers; Neuropathy, hereditary sensory and autonomic, type V, 608654; Hereditary sensory neuropathy type V; HSAN 5
Paroxysmal central nervous system disorders v0.2 NAGLU Ellen McDonagh gene: NAGLU was added
gene: NAGLU was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Amber
Mode of inheritance for gene: NAGLU was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NAGLU were set to 12202988; 25818867
Phenotypes for gene: NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920; Late-onset painful sensory neuropathy, AD
Paroxysmal central nervous system disorders v0.2 MT-ATP8 Ellen McDonagh gene: MT-ATP8 was added
gene: MT-ATP8 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-ATP8 was set to MITOCHONDRIAL
Paroxysmal central nervous system disorders v0.2 MT-ATP6 Ellen McDonagh gene: MT-ATP6 was added
gene: MT-ATP6 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL
Paroxysmal central nervous system disorders v0.2 MPV17 Ellen McDonagh gene: MPV17 was added
gene: MPV17 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Amber
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPV17 were set to 16582910; 23714749; 185990; 11431741; 16909392; 22508010
Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810; Navajo neurohepatopathy; Pain insensitivity
Paroxysmal central nervous system disorders v0.2 MOG Ellen McDonagh gene: MOG was added
gene: MOG was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Amber
Mode of inheritance for gene: MOG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MOG were set to 21907016
Phenotypes for gene: MOG were set to Narcolepsy 7, 614250
Paroxysmal central nervous system disorders v0.2 KIF1A Ellen McDonagh gene: KIF1A was added
gene: KIF1A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: KIF1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF1A were set to 25265257; 21820098
Phenotypes for gene: KIF1A were set to Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory, type IIC, 614213
Paroxysmal central nervous system disorders v0.2 KCNQ3 Ellen McDonagh gene: KCNQ3 was added
gene: KCNQ3 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNQ3 were set to Seizures, benign neonatal, type 2, 121201
Paroxysmal central nervous system disorders v0.2 KCNQ2 Ellen McDonagh gene: KCNQ2 was added
gene: KCNQ2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNQ2 were set to Myokymia, 121200; Seizures, benign neonatal, 1, 121200; Epileptic encephalopathy, early infantile, 7, 613720
Paroxysmal central nervous system disorders v0.2 KCNK18 Ellen McDonagh gene: KCNK18 was added
gene: KCNK18 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Amber
Mode of inheritance for gene: KCNK18 was set to
Publications for gene: KCNK18 were set to 20871611; 22355750
Phenotypes for gene: KCNK18 were set to MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13
Paroxysmal central nervous system disorders v0.2 KCNJ5 Ellen McDonagh gene: KCNJ5 was added
gene: KCNJ5 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Amber
Mode of inheritance for gene: KCNJ5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paroxysmal central nervous system disorders v0.2 KCNJ2 Ellen McDonagh gene: KCNJ2 was added
gene: KCNJ2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNJ2 were set to 16217063
Phenotypes for gene: KCNJ2 were set to ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Episodic weakness; Periodic paralysis; Andersen syndrome; Hypokalemic Periodic Paralysis, Type 2
Paroxysmal central nervous system disorders v0.2 KCNJ18 Ellen McDonagh gene: KCNJ18 was added
gene: KCNJ18 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: KCNJ18 was set to
Publications for gene: KCNJ18 were set to 20074522
Phenotypes for gene: KCNJ18 were set to Hypokalemic Periodic Paralysis, Type 1
Paroxysmal central nervous system disorders v0.2 KCNA1 Ellen McDonagh gene: KCNA1 was added
gene: KCNA1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNA1 were set to 17575281
Phenotypes for gene: KCNA1 were set to Episodic Ataxia; EPISODIC ATAXIA, TYPE 1; Episodic ataxia/myokymia syndrome, 160120; EA1; Myokymia; myokymia with periodic ataxia; Episodic Ataxia, Type 1
Paroxysmal central nervous system disorders v0.2 ISCA-37468-Loss Ellen McDonagh Region: ISCA-37468-Loss was added
Region: ISCA-37468-Loss was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37468-Loss was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females)
Publications for Region: ISCA-37468-Loss were set to 20485326; 22365943; 23414621
Phenotypes for Region: ISCA-37468-Loss were set to short stature; severe intellectual disability; lip-smacking; exiting behavior; autistic features; hypotonia; stereotypical hand movements; eleveated serotonin levels; episodes of sudden loss of muscle tone
Paroxysmal central nervous system disorders v0.2 HSPG2 Ellen McDonagh gene: HSPG2 was added
gene: HSPG2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSPG2 were set to Schwartz-Jampel syndrome, type 1, 255800
Paroxysmal central nervous system disorders v0.2 HLA-DQB1 Ellen McDonagh gene: HLA-DQB1 was added
gene: HLA-DQB1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: HLA-DQB1 was set to Unknown
Publications for gene: HLA-DQB1 were set to 12473762; 27305985; 27081540; 26283305; 26126836; 27253765
Phenotypes for gene: HLA-DQB1 were set to Kleine-Levin hibernation syndrome 148840; narcolepsy
Paroxysmal central nervous system disorders v0.2 HCRT Ellen McDonagh gene: HCRT was added
gene: HCRT was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: HCRT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HCRT were set to 10973318
Phenotypes for gene: HCRT were set to ?Narcolepsy 1, 161400
Paroxysmal central nervous system disorders v0.2 GLRB Ellen McDonagh gene: GLRB was added
gene: GLRB was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: GLRB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLRB were set to 23238346; 11929858; 21391991
Phenotypes for gene: GLRB were set to 614619 HYPEREKPLEXIA 2
Paroxysmal central nervous system disorders v0.2 GLRA1 Ellen McDonagh gene: GLRA1 was added
gene: GLRA1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GLRA1 were set to 20301437
Phenotypes for gene: GLRA1 were set to 149400 HYPEREKPLEXIA, HEREDITARY 1
Paroxysmal central nervous system disorders v0.2 EXT1 Ellen McDonagh gene: EXT1 was added
gene: EXT1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EXT1 were set to 2788404; Journal Sleep Research (2012), 21(Suppl 1), P891
Phenotypes for gene: EXT1 were set to Familial case of narcolepsy with cataplexy NT1 associated with multiple exostoses (one family)
Mode of pathogenicity for gene: EXT1 was set to Other - please provide details in the comments
Paroxysmal central nervous system disorders v0.2 ELP1 Ellen McDonagh gene: ELP1 was added
gene: ELP1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELP1 were set to 11179021; 11179008; 17985250; 8102296
Phenotypes for gene: ELP1 were set to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; Familial dysautonomia; Dysautonomia, familial, 223900
Paroxysmal central nervous system disorders v0.2 EIF3G Ellen McDonagh gene: EIF3G was added
gene: EIF3G was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: EIF3G was set to Unknown
Publications for gene: EIF3G were set to 25669430
Phenotypes for gene: EIF3G were set to Narcolepsy
Paroxysmal central nervous system disorders v0.2 DNMT1 Ellen McDonagh gene: DNMT1 was added
gene: DNMT1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: DNMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNMT1 were set to 23904686; 22328086; 24709307
Phenotypes for gene: DNMT1 were set to Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121; Neuropathy, hereditary sensory, type IE, 614116; CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT; ADCADN
Paroxysmal central nervous system disorders v0.2 DMPK Ellen McDonagh gene: DMPK was added
gene: DMPK was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: DMPK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DMPK were set to MYOTONIC DYSTROPHY 1 (DM1); Myotonia
Paroxysmal central nervous system disorders v0.2 CSNK1D Ellen McDonagh gene: CSNK1D was added
gene: CSNK1D was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Amber
Mode of inheritance for gene: CSNK1D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CSNK1D were set to 25660813; 23636092
Phenotypes for gene: CSNK1D were set to Advanced sleep-phase syndrome, familial, 2, 615224
Paroxysmal central nervous system disorders v0.2 CNBP Ellen McDonagh gene: CNBP was added
gene: CNBP was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: CNBP was set to Other - please specifiy in evaluation comments
Phenotypes for gene: CNBP were set to Myotonia; MYOTONIC DYSTROPHY 2 (DM2)
Paroxysmal central nervous system disorders v0.2 CLTCL1 Ellen McDonagh gene: CLTCL1 was added
gene: CLTCL1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: CLTCL1 was set to Unknown
Publications for gene: CLTCL1 were set to 26068709
Phenotypes for gene: CLTCL1 were set to Congenital insensitivity to pain
Paroxysmal central nervous system disorders v0.2 CLCN1 Ellen McDonagh gene: CLCN1 was added
gene: CLCN1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: CLCN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CLCN1 were set to 11840191; 18337100; 22649220
Phenotypes for gene: CLCN1 were set to Myotonia levior, recessive; Myotonia congenita, recessive, 255700; Hyperkalemic Periodic Paralysis; Myotonia Congenita; Myotonia; Myotonia congenita, dominant, 160800
Paroxysmal central nervous system disorders v0.2 CCT5 Ellen McDonagh gene: CCT5 was added
gene: CCT5 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: CCT5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCT5 were set to 28623285; 12874111; 16399879; 25124038
Phenotypes for gene: CCT5 were set to Neuropathy, hereditary sensory, with spastic paraplegia, 256840; HSAN with spastic paraplegia
Paroxysmal central nervous system disorders v0.2 CACNB4 Ellen McDonagh gene: CACNB4 was added
gene: CACNB4 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: CACNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNB4 were set to 10762541
Phenotypes for gene: CACNB4 were set to {Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682; Episodic ataxia, type 5, 613855; Episodic Ataxia; EPISODIC ATAXIA, TYPE 5; EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682
Paroxysmal central nervous system disorders v0.2 CACNA1S Ellen McDonagh gene: CACNA1S was added
gene: CACNA1S was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CACNA1S were set to 15534250; 18835861
Phenotypes for gene: CACNA1S were set to Hypokalemic periodic paralysis, type 1, 170400
Paroxysmal central nervous system disorders v0.2 CACNA1A Ellen McDonagh gene: CACNA1A was added
gene: CACNA1A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1A were set to 17575281; 21734179
Phenotypes for gene: CACNA1A were set to Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500; EA2; Migraine, familial hemiplegic, 1, 141500; Episodic Ataxia, Type 2; familial hemiplegic migraine type 1, 141500; episodic ataxia type 2 (EA2),108500; Spinocerebellar ataxia 6, 183086; Episodic ataxia, type 2, 108500
Paroxysmal central nervous system disorders v0.2 ATP7B Ellen McDonagh gene: ATP7B was added
gene: ATP7B was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP7B were set to 20301685
Phenotypes for gene: ATP7B were set to Wilson disease 277900
Paroxysmal central nervous system disorders v0.2 ATP2A1 Ellen McDonagh gene: ATP2A1 was added
gene: ATP2A1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP2A1 were set to 9367679; 884119; 8841193
Phenotypes for gene: ATP2A1 were set to Brody myopathy 601003
Paroxysmal central nervous system disorders v0.2 ATP1A3 Ellen McDonagh gene: ATP1A3 was added
gene: ATP1A3 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A3 were set to 22842232; 22850527
Phenotypes for gene: ATP1A3 were set to DYSTONIA 12, 128235; ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820
Paroxysmal central nervous system disorders v0.2 ATL3 Ellen McDonagh gene: ATL3 was added
gene: ATL3 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: ATL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATL3 were set to 24736309; 24459106
Phenotypes for gene: ATL3 were set to Neuropathy, hereditary sensory, type IF, 615632; HSN1F
Paroxysmal central nervous system disorders v0.2 ATL1 Ellen McDonagh gene: ATL1 was added
gene: ATL1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATL1 were set to 21194679; 22340599
Phenotypes for gene: ATL1 were set to Hereditary spastic paraplegia, 182600; Hereditary sensory neuropathy; HSN1D; Neuropathy, hereditary sensory, type ID, 613708
Paroxysmal central nervous system disorders v0.2 AKR1C2 Ellen McDonagh gene: AKR1C2 was added
gene: AKR1C2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red
Mode of inheritance for gene: AKR1C2 was set to Unknown
Phenotypes for gene: AKR1C2 were set to Obesity, hyperphagia, and developmental delay
Paroxysmal central nervous system disorders v0.2 ADCY5 Ellen McDonagh gene: ADCY5 was added
gene: ADCY5 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: ADCY5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADCY5 were set to 11310626; 24700542
Phenotypes for gene: ADCY5 were set to Familial dyskinesia 606703; Dyskinesia, familial, with facial myokymia, 606703
Adult onset dystonia, chorea or related movement disorder v0.4 AP1S2 Ellen McDonagh Classified gene: AP1S2 as Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v0.4 AP1S2 Ellen McDonagh Added comment: Comment on list classification: This gene is Green on the Structural basal ganglia disorders v1.10 panel.
Adult onset dystonia, chorea or related movement disorder v0.4 AP1S2 Ellen McDonagh Gene: ap1s2 has been classified as Green List (High Evidence).
Adult onset dystonia, chorea or related movement disorder v0.2 YY1 Ellen McDonagh gene: YY1 was added
gene: YY1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: YY1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: YY1 were set to 28575647
Phenotypes for gene: YY1 were set to Gabriele-de Vries syndrome
Adult onset dystonia, chorea or related movement disorder v0.2 VAC14 Ellen McDonagh gene: VAC14 was added
gene: VAC14 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: VAC14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VAC14 were set to 19037259; 17956977; 27292112
Phenotypes for gene: VAC14 were set to Striatonigral degeneration, childhood-onset
Adult onset dystonia, chorea or related movement disorder v0.2 SLC39A14 Ellen McDonagh gene: SLC39A14 was added
gene: SLC39A14 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A14 were set to 27231142
Phenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2
Adult onset dystonia, chorea or related movement disorder v0.2 PLA2G6 Ellen McDonagh gene: PLA2G6 was added
gene: PLA2G6 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLA2G6 were set to 18799783; 18570303; 16783378
Phenotypes for gene: PLA2G6 were set to PLA2G6-associated neurodegeneration; Parkinson disease 14, autosomal recessive 612953; Neurodegeneration with brain iron accumulation 2B 610217; Infantile neuroaxonal dystrophy 1 256600
Adult onset dystonia, chorea or related movement disorder v0.2 PDX1 Ellen McDonagh gene: PDX1 was added
gene: PDX1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: PDX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDX1 were set to Pancreatic agenesis 1; MODY, type IV 606392
Adult onset dystonia, chorea or related movement disorder v0.2 PCCB Ellen McDonagh gene: PCCB was added
gene: PCCB was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCB were set to Propionicacidemia
Adult onset dystonia, chorea or related movement disorder v0.2 PCCA Ellen McDonagh gene: PCCA was added
gene: PCCA was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCCA were set to 6790853; 15235904
Phenotypes for gene: PCCA were set to Propionicacidemia
Adult onset dystonia, chorea or related movement disorder v0.2 NUP62 Ellen McDonagh gene: NUP62 was added
gene: NUP62 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP62 were set to 16786527; 14718703; 12374138
Phenotypes for gene: NUP62 were set to Striatonigral degeneration, infantile
Adult onset dystonia, chorea or related movement disorder v0.2 NKX6-2 Ellen McDonagh gene: NKX6-2 was added
gene: NKX6-2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NKX6-2 were set to 15601927; 28575651
Phenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
Adult onset dystonia, chorea or related movement disorder v0.2 NKX2-1 Ellen McDonagh gene: NKX2-1 was added
gene: NKX2-1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NKX2-1 were set to 24555207
Phenotypes for gene: NKX2-1 were set to Chorea, hereditary benign 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress
Adult onset dystonia, chorea or related movement disorder v0.2 NDUFS3 Ellen McDonagh gene: NDUFS3 was added
gene: NDUFS3 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: NDUFS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS3 were set to Mitochondrial complex I deficiency; Leigh syndrome due to mitochondrial complex I deficiency 256000
Adult onset dystonia, chorea or related movement disorder v0.2 NDUFAF6 Ellen McDonagh gene: NDUFAF6 was added
gene: NDUFAF6 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF6 were set to 18614015; 27623250; 26741492
Phenotypes for gene: NDUFAF6 were set to Leigh syndrome due to mitochondrial complex I deficiency
Adult onset dystonia, chorea or related movement disorder v0.2 NDUFA9 Ellen McDonagh gene: NDUFA9 was added
gene: NDUFA9 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: NDUFA9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA9 were set to 22114105
Phenotypes for gene: NDUFA9 were set to Leigh syndrome due to mitochondrial complex I deficiency
Adult onset dystonia, chorea or related movement disorder v0.2 NDUFA12 Ellen McDonagh gene: NDUFA12 was added
gene: NDUFA12 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA12 were set to 21617257
Phenotypes for gene: NDUFA12 were set to Leigh syndrome due to mitochondrial complex 1 deficiency
Adult onset dystonia, chorea or related movement disorder v0.2 NDUFA10 Ellen McDonagh gene: NDUFA10 was added
gene: NDUFA10 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA10 were set to 21150889; 28247337; 26741492
Phenotypes for gene: NDUFA10 were set to Leigh syndrome
Adult onset dystonia, chorea or related movement disorder v0.2 NDUFA1 Ellen McDonagh gene: NDUFA1 was added
gene: NDUFA1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: NDUFA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: NDUFA1 were set to 28247337; 17262856
Phenotypes for gene: NDUFA1 were set to Mitochondrial complex I deficiency
Adult onset dystonia, chorea or related movement disorder v0.2 MUT Ellen McDonagh gene: MUT was added
gene: MUT was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUT were set to Methylmalonic aciduria, mut(0) type
Adult onset dystonia, chorea or related movement disorder v0.2 MECR Ellen McDonagh gene: MECR was added
gene: MECR was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: MECR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MECR were set to 27817865
Phenotypes for gene: MECR were set to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Adult onset dystonia, chorea or related movement disorder v0.2 KMT2B Ellen McDonagh gene: KMT2B was added
gene: KMT2B was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: KMT2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KMT2B were set to 27992417
Phenotypes for gene: KMT2B were set to Dystonia 28, childhood-onset 617284; early-onset dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 JPH3 Ellen McDonagh gene: JPH3 was added
gene: JPH3 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: JPH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: JPH3 were set to Huntington disease-like 2
Mode of pathogenicity for gene: JPH3 was set to Other - please provide details in the comments
Adult onset dystonia, chorea or related movement disorder v0.2 IVD Ellen McDonagh gene: IVD was added
gene: IVD was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IVD were set to Isovaleric acidemia
Adult onset dystonia, chorea or related movement disorder v0.2 HTT Ellen McDonagh gene: HTT was added
gene: HTT was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: HTT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HTT were set to Huntington disease
Adult onset dystonia, chorea or related movement disorder v0.2 HTRA2 Ellen McDonagh gene: HTRA2 was added
gene: HTRA2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HTRA2 were set to 18364387; 27208207; 18401856; 27696117; 23462481; 15961413
Phenotypes for gene: HTRA2 were set to Parkinson Disease, Dominant; Parkinson disease 13, 610297; 3-methylglutaconic aciduria, type VIII 617248
Adult onset dystonia, chorea or related movement disorder v0.2 HEXA Ellen McDonagh gene: HEXA was added
gene: HEXA was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXA were set to GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800; Hex A pseudodeficiency 272800
Adult onset dystonia, chorea or related movement disorder v0.2 GFAP Ellen McDonagh gene: GFAP was added
gene: GFAP was added to Adult onset movement disorder. Sources: Expert Review Amber
Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GFAP were set to 15732098; 14557587
Phenotypes for gene: GFAP were set to Alexander disease 203450
Adult onset dystonia, chorea or related movement disorder v0.2 FA2H Ellen McDonagh gene: FA2H was added
gene: FA2H was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FA2H were set to 19068277
Phenotypes for gene: FA2H were set to fatty acid hydroxylase-associated neurodegeneration; Spastic paraplegia 35, autosomal recessive 612319; Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 ETHE1 Ellen McDonagh gene: ETHE1 was added
gene: ETHE1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy 602473
Adult onset dystonia, chorea or related movement disorder v0.2 DLAT Ellen McDonagh gene: DLAT was added
gene: DLAT was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DLAT were set to 16049940; 19891062; 20022530
Phenotypes for gene: DLAT were set to episodic dystonia; pyruvate dehydrogenase deficiency; Pyruvate dehydrogenase E2 deficiency; Pyruvate dehydrogenase E2 deficiency 245348
Adult onset dystonia, chorea or related movement disorder v0.2 COASY Ellen McDonagh Added phenotypes Neurodegeneration with brain iron accumulation 6 615643 for gene: COASY
Publications for gene COASY were changed from 27021474 to 24360804; 27021474
Adult onset dystonia, chorea or related movement disorder v0.2 ATP6AP2 Ellen McDonagh gene: ATP6AP2 was added
gene: ATP6AP2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: ATP6AP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP6AP2 were set to 23595882
Phenotypes for gene: ATP6AP2 were set to Mental retardation, X-linked, syndromic, Hedera type 300423; ?Parkinsonism with spasticity, X-linked 300911
Adult onset dystonia, chorea or related movement disorder v0.2 ATP1A2 Ellen McDonagh gene: ATP1A2 was added
gene: ATP1A2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A2 were set to 12539047; 12953268; 18056581
Phenotypes for gene: ATP1A2 were set to familial basilar migraine 602481; familial hemiplegic migraine type 2, 602481; alternating hemiplegia of childhood 104290
Adult onset dystonia, chorea or related movement disorder v0.2 ATN1 Ellen McDonagh gene: ATN1 was added
gene: ATN1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATN1 were set to Dentatorubro-pallidoluysian atrophy 125370
Mode of pathogenicity for gene: ATN1 was set to Other - please provide details in the comments
Adult onset dystonia, chorea or related movement disorder v0.2 NDUFS4 Ellen McDonagh gene: NDUFS4 was added
gene: NDUFS4 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFS4 were set to 24020637
Phenotypes for gene: NDUFS4 were set to Mitochondrial complex I deficiency 252010; Leigh syndrome 256000
Adult onset dystonia, chorea or related movement disorder v0.2 SLC25A19 Ellen McDonagh gene: SLC25A19 was added
gene: SLC25A19 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A19 were set to 12185364; 17035501; 19798730
Phenotypes for gene: SLC25A19 were set to Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) 613710; Microcephaly, Amish type 607196
Adult onset dystonia, chorea or related movement disorder v0.2 XPR1 Ellen McDonagh gene: XPR1 was added
gene: XPR1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: XPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: XPR1 were set to 25938945
Phenotypes for gene: XPR1 were set to Basal ganglia calcification, idiopathic, 6 616413
Adult onset dystonia, chorea or related movement disorder v0.2 WDR73 Ellen McDonagh gene: WDR73 was added
gene: WDR73 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR73 were set to Galloway Mowat Syndrome
Adult onset dystonia, chorea or related movement disorder v0.2 WDR45 Ellen McDonagh gene: WDR45 was added
gene: WDR45 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: WDR45 were set to 23435086; 22892189; 23176820
Phenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5 300894; Dystonia; beta-propeller protein-associated neurodegeneration
Adult onset dystonia, chorea or related movement disorder v0.2 VPS37A Ellen McDonagh gene: VPS37A was added
gene: VPS37A was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: VPS37A was set to
Phenotypes for gene: VPS37A were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 VPS35 Ellen McDonagh gene: VPS35 was added
gene: VPS35 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: VPS35 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: VPS35 were set to 23408866; 21763483; 21763482; 26547032; 22991136; 27777137; 22517097; 24854799
Phenotypes for gene: VPS35 were set to PARK17; PARKINSON DISEASE 17; Parkinson disease 17, 614203; Parkinson Disease, Dominant; late onset parkinson disease
Adult onset dystonia, chorea or related movement disorder v0.2 VPS13A Ellen McDonagh gene: VPS13A was added
gene: VPS13A was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS13A were set to 11381253; 11381254; 14663054
Phenotypes for gene: VPS13A were set to complex parkinsonism; Choreoacanthocytosis 200150
Adult onset dystonia, chorea or related movement disorder v0.2 UCHL1 Ellen McDonagh gene: UCHL1 was added
gene: UCHL1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: UCHL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: UCHL1 were set to ?{Parkinson disease 5, susceptibility to}
Adult onset dystonia, chorea or related movement disorder v0.2 TUBB4A Ellen McDonagh gene: TUBB4A was added
gene: TUBB4A was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TUBB4A were set to 27809427; 24526230; 24850488; 23582646
Phenotypes for gene: TUBB4A were set to Complex parkinsonism; hypomyelinating leukodystrophy 6; ?Dystonia 4, torsion, autosomal dominant, 128101; Dystonia; hereditary whispering dysphonia
Adult onset dystonia, chorea or related movement disorder v0.2 TUBA1A Ellen McDonagh gene: TUBA1A was added
gene: TUBA1A was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: TUBA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TUBA1A were set to Lissencephaly 3 611603
Adult onset dystonia, chorea or related movement disorder v0.2 TREX1 Ellen McDonagh gene: TREX1 was added
gene: TREX1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: TREX1 was set to
Phenotypes for gene: TREX1 were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 TREM2 Ellen McDonagh gene: TREM2 was added
gene: TREM2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: TREM2 was set to
Phenotypes for gene: TREM2 were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 TPK1 Ellen McDonagh gene: TPK1 was added
gene: TPK1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: TPK1 was set to
Phenotypes for gene: TPK1 were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 TOR1A Ellen McDonagh gene: TOR1A was added
gene: TOR1A was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: TOR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TOR1A were set to 16537570; 9288096; 20301665; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 17503336; 11523564
Phenotypes for gene: TOR1A were set to Dystonia-1, torsion, 128100; Early-Onset Primary Dystonia; Autosomal dominant or sporadic dystonia (DYT1)
Adult onset dystonia, chorea or related movement disorder v0.2 TIMM8A Ellen McDonagh gene: TIMM8A was added
gene: TIMM8A was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: TIMM8A was set to
Phenotypes for gene: TIMM8A were set to Deafness-Dystonia-Optic Neuronopathy Syndrome
Adult onset dystonia, chorea or related movement disorder v0.2 THAP1 Ellen McDonagh gene: THAP1 was added
gene: THAP1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: THAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: THAP1 were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/; 21793105
Phenotypes for gene: THAP1 were set to Dystonia 6, torsion, 602629; Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 TH Ellen McDonagh gene: TH was added
gene: TH was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TH were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/
Phenotypes for gene: TH were set to Segawa syndrome; paediatric form of dopa responsive dystonia; infantile parkinsonism; DOPA-responsive dystonia; Segawa syndrome, recessive, 605407
Adult onset dystonia, chorea or related movement disorder v0.2 TBP Ellen McDonagh gene: TBP was added
gene: TBP was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: TBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBP were set to {Parkinson disease, susceptibility to}, 168600; Spinocerebellar ataxia 17, 607136
Mode of pathogenicity for gene: TBP was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Adult onset dystonia, chorea or related movement disorder v0.2 TAF1 Ellen McDonagh gene: TAF1 was added
gene: TAF1 was added to Adult onset movement disorder. Sources: Expert Review Amber
Mode of inheritance for gene: TAF1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: TAF1 were set to 12928496; http://www.ncbi.nlm.nih.gov/books/NBK1155/; PMID: 26637982; PMID: 26879577; 26637982; 17668393; PMID: 17273961; PMID: 12928496; 17273961; PMID: 23184149; PMID: 2368812; 20301662; PMID: 26769797
Phenotypes for gene: TAF1 were set to SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250; Dystonia-Parkinsonism, X-linked, 314250; (NB complex mutation)
Mode of pathogenicity for gene: TAF1 was set to Other - please provide details in the comments
Adult onset dystonia, chorea or related movement disorder v0.2 SYNJ1 Ellen McDonagh gene: SYNJ1 was added
gene: SYNJ1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SYNJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SYNJ1 were set to 27435091; 27496670; 26149920; 23804563; 23804577
Phenotypes for gene: SYNJ1 were set to juvenile Parkinsonism; Early Onset Complex Disease; Parkinson disease 20, early-onset, 615530; Parkinson disease 20, early-onset
Adult onset dystonia, chorea or related movement disorder v0.2 SURF1 Ellen McDonagh gene: SURF1 was added
gene: SURF1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder v0.2 SUOX Ellen McDonagh gene: SUOX was added
gene: SUOX was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUOX were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 SUCLG1 Ellen McDonagh gene: SUCLG1 was added
gene: SUCLG1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder v0.2 SUCLA2 Ellen McDonagh gene: SUCLA2 was added
gene: SUCLA2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder v0.2 SPR Ellen McDonagh gene: SPR was added
gene: SPR was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPR were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22522443
Phenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716; Dopa-Responsive Dystonia; paediatric form of dopa responsive dystonia; Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716
Adult onset dystonia, chorea or related movement disorder v0.2 SPG11 Ellen McDonagh gene: SPG11 was added
gene: SPG11 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG11 were set to 27820618; 19224311; 21381113
Phenotypes for gene: SPG11 were set to Complex parkinsonism; hereditary spastic paraparesis; Early Onset Complex Disease; early onset parkinsonism, levo dopa responsve
Adult onset dystonia, chorea or related movement disorder v0.2 SNCAIP Ellen McDonagh gene: SNCAIP was added
gene: SNCAIP was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: SNCAIP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNCAIP were set to Parkinson Disease, Dominant/Recessive
Adult onset dystonia, chorea or related movement disorder v0.2 SNCA Ellen McDonagh gene: SNCA was added
gene: SNCA was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SNCA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SNCA were set to Autosomal dominant Parkinson's disease with alpha-synuclein rearrangements (PARK1/4); Dementia, Lewy body, 127750; Parkinson disease 4, 605543; Parkinson disease 1, 168601
Mode of pathogenicity for gene: SNCA was set to Other - please provide details in the comments
Adult onset dystonia, chorea or related movement disorder v0.2 SLC6A5 Ellen McDonagh gene: SLC6A5 was added
gene: SLC6A5 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SLC6A5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC6A5 were set to 16751771
Phenotypes for gene: SLC6A5 were set to 614618 HYPEREKPLEXIA 3
Adult onset dystonia, chorea or related movement disorder v0.2 SLC6A3 Ellen McDonagh gene: SLC6A3 was added
gene: SLC6A3 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC6A3 were set to PMID: 24613933
Phenotypes for gene: SLC6A3 were set to Parkinsonism-dystonia, infantile, 613135
Adult onset dystonia, chorea or related movement disorder v0.2 SLC46A1 Ellen McDonagh gene: SLC46A1 was added
gene: SLC46A1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: SLC46A1 was set to
Phenotypes for gene: SLC46A1 were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 SLC41A1 Ellen McDonagh gene: SLC41A1 was added
gene: SLC41A1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: SLC41A1 was set to
Publications for gene: SLC41A1 were set to 24661466 - A novel heterozygous variant (R244H) reported in the SLC41A1 gene was identified in one early onset PD patient, which not present either in 479 PD patients or 525 normal controls with age onset >50; 27612022 and 26308152 - reduced risk of PD association; 21812739 and 20683486 novel heterozygous variants identified in PD patients
Phenotypes for gene: SLC41A1 were set to Parkinson disease (Yan (2011) Int J Neurosci 121,632)
Adult onset dystonia, chorea or related movement disorder v0.2 SLC30A10 Ellen McDonagh gene: SLC30A10 was added
gene: SLC30A10 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A10 were set to 22341971; 22341972; 22926781; 22934317; 25778823
Phenotypes for gene: SLC30A10 were set to Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease; hypermanganesemia with dystonia-1 (HMNDYT1), increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, Brain MRI shows hyperintensities in the basal ganglia
Adult onset dystonia, chorea or related movement disorder v0.2 SLC2A1 Ellen McDonagh gene: SLC2A1 was added
gene: SLC2A1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SLC2A1 were set to 18451999; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 19630075; 18577546
Phenotypes for gene: SLC2A1 were set to EPILEPSY, IDIOPATHIC GENERALIZED; dystonia 9; GLUT1 deficiency syndrome 2; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2, childhood onset; Dystonia; GLUT1 deficiency syndrome 1, infantile onset, severe; GLUT1 DEFICIENCY SYNDROME 1; GLUT1 deficiency syndrome 1, 606777; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia
Adult onset dystonia, chorea or related movement disorder v0.2 SLC20A2 Ellen McDonagh gene: SLC20A2 was added
gene: SLC20A2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SLC20A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC20A2 were set to Basal ganglia calcification, idiopathic, 1 213600
Adult onset dystonia, chorea or related movement disorder v0.2 SLC1A3 Ellen McDonagh gene: SLC1A3 was added
gene: SLC1A3 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC1A3 were set to 27829685; 16116111; 19139306
Phenotypes for gene: SLC1A3 were set to EPISODIC ATAXIA, TYPE 6
Adult onset dystonia, chorea or related movement disorder v0.2 SLC19A3 Ellen McDonagh gene: SLC19A3 was added
gene: SLC19A3 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A3 were set to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) 607483
Adult onset dystonia, chorea or related movement disorder v0.2 SGCE Ellen McDonagh gene: SGCE was added
gene: SGCE was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SGCE was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: SGCE were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/; 12325078; 11528394
Phenotypes for gene: SGCE were set to Myoclonus dystonia syndrome; Myoclonus-Dystonia; maternally imprinted Dystonia-11, myoclonic, 159900
Adult onset dystonia, chorea or related movement disorder v0.2 SERAC1 Ellen McDonagh gene: SERAC1 was added
gene: SERAC1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERAC1 were set to 27186703; 28482397; 27604308; 28778788; 29205472; 22683713; 16527507
Phenotypes for gene: SERAC1 were set to MEGDEL syndrome; Dystonia; MEGDHEL syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; Lesions in the basal ganglia
Adult onset dystonia, chorea or related movement disorder v0.2 SDHAF1 Ellen McDonagh gene: SDHAF1 was added
gene: SDHAF1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: SDHAF1 was set to
Phenotypes for gene: SDHAF1 were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 SDHA Ellen McDonagh gene: SDHA was added
gene: SDHA was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder v0.2 SCP2 Ellen McDonagh gene: SCP2 was added
gene: SCP2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: SCP2 was set to
Publications for gene: SCP2 were set to PMID: 16685654
Phenotypes for gene: SCP2 were set to Leukoencephalopathy with dystonia and motor neuropathy, 613724
Adult onset dystonia, chorea or related movement disorder v0.2 SCN9A Ellen McDonagh gene: SCN9A was added
gene: SCN9A was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SCN9A were set to Paroxysmal extreme pain disorder, 167400; Congenital Indifference to Pain; Paroxysmal Extreme Pain Disorder; Hereditary Sensory Neuropathy; Febrile seizures, familial, 3B, 613863; Dysosteosclerosis; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Insensitivity to pain, channelopathy-associated, 243000; Erythermalgia, primary, 133020; Erythermalgia, Primary
Adult onset dystonia, chorea or related movement disorder v0.2 SCN8A Ellen McDonagh gene: SCN8A was added
gene: SCN8A was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN8A were set to 26677014
Phenotypes for gene: SCN8A were set to epilepsy; paroxysmal kinesigenic dyskinesias
Adult onset dystonia, chorea or related movement disorder v0.2 SCN1A Ellen McDonagh gene: SCN1A was added
gene: SCN1A was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN1A were set to 16054936; 19332696
Phenotypes for gene: SCN1A were set to Dravet syndrome; several epilepsy, convulsion and migraine disorders.; familial hemiplegic migraine 3
Adult onset dystonia, chorea or related movement disorder v0.2 SAMHD1 Ellen McDonagh gene: SAMHD1 was added
gene: SAMHD1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: SAMHD1 was set to
Phenotypes for gene: SAMHD1 were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 RNASEH2C Ellen McDonagh gene: RNASEH2C was added
gene: RNASEH2C was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: RNASEH2C was set to
Phenotypes for gene: RNASEH2C were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 RNASEH2B Ellen McDonagh gene: RNASEH2B was added
gene: RNASEH2B was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: RNASEH2B was set to
Phenotypes for gene: RNASEH2B were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 RNASEH2A Ellen McDonagh gene: RNASEH2A was added
gene: RNASEH2A was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: RNASEH2A was set to
Phenotypes for gene: RNASEH2A were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 RAB39B Ellen McDonagh gene: RAB39B was added
gene: RAB39B was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: RAB39B were set to 27838047; 27459931; 27066548; 26399558; 2639955; 27448726; 27943471; 25434005; 27694831
Phenotypes for gene: RAB39B were set to Waisman syndrome 311510; early-onset parkinsonism and intellectual disability
Adult onset dystonia, chorea or related movement disorder v0.2 QDPR Ellen McDonagh gene: QDPR was added
gene: QDPR was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: QDPR was set to
Phenotypes for gene: QDPR were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 PTS Ellen McDonagh gene: PTS was added
gene: PTS was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: PTS was set to
Phenotypes for gene: PTS were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 PTEN Ellen McDonagh gene: PTEN was added
gene: PTEN was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: PTEN was set to
Phenotypes for gene: PTEN were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 PSEN1 Ellen McDonagh gene: PSEN1 was added
gene: PSEN1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: PSEN1 was set to
Phenotypes for gene: PSEN1 were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 PRRT2 Ellen McDonagh gene: PRRT2 was added
gene: PRRT2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PRRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRRT2 were set to 22744660; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22101681; 22120146; 22399141
Phenotypes for gene: PRRT2 were set to SEIZURES, BENIGN FAMILIAL INFANTILE, 2; episodic kinesigenic dyskinesia; EPISODIC KINESIGENIC DYSKINESIA 1; dystonia and occasionally hemiplegic migraine and epilepsy; CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS
Adult onset dystonia, chorea or related movement disorder v0.2 PRNP Ellen McDonagh gene: PRNP was added
gene: PRNP was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRNP were set to Cerebral amyloid angiopathy, PRNP-related 137440; Huntington disease-like 1 603218; Gerstmann-Straussler disease 137440; Creutzfeldt-Jakob disease 123400
Adult onset dystonia, chorea or related movement disorder v0.2 PRKRA Ellen McDonagh gene: PRKRA was added
gene: PRKRA was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PRKRA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKRA were set to 24142417; 22842711; 26990861; 25142429; 18420150 - a novel heterozygous variant c.266_267delAT; PMID: 26990861 - c.665C>T homozygous variant was identified in 3 affected siblings with Early-Onset Generalized Dystonia-Parkinsonism (and was heterozygous in the unaffected patients and an unaffected sibling). It was confirmed by Sanger sequencing and had a frequency of 0.01% in the Exome Aggregation Consortium database, predicted to be deleterious by 2 of 6 in silico tools. They showed it was within a founder haplotype shared by all previoulsy reported cases. The Authors state Screening of PRKRA is warranted in all patients with early-onset generalized dystonia, or dystonia parkinsonism compatible with autosomal recessive inheritance; p.H89fsX20 was reported in a proband with early childhood-onset leg dystonia (though testing in the parents was not mentioned).; 25737287; 25737287 Compound het variants (c.G230C (p.Cys77Ser), and in exon 7, c.G638T (p.Cys213Phe)) identified in the two affected siblings reported with dystonia without parkinsonism, unaffected family members were heterozygous; 25142429 In a Polish family, the homozygous p.Pro222Leu mutation segregated with autosomal-recessive, early-onset generalized dystonia and slight parkinsonism; 18420150; 18243799 - two unrelated families with members with an apparent autosomal recessive, novel, young-onset, generalised form of dystonia parkinsonism. A region of homozygosity was found in all affected individuals, and narrowed down to the homozygous variant c.665C>T (P222L); 22842711 describes the clinical features of three original cases with homozygous PRKRA variants - the patients presented with either a pure generalised dystonia or with a dystonia-parkinsonism that was relatively unresponsive to L-dopa; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 24142417 - Compound heterozygous variants were reported in a patient with early onset dystonia c.665C>T (p.P222L) inherited from his mother, and c.637T>C (p.C213R) was a novel mutation; 18243799; 25914261
Phenotypes for gene: PRKRA were set to Early-Onset Generalized Dystonia-Parkinsonism; Early Onset Complex Disease; Dystonia 16; early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa; early-onset generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa; Dystonia; Dystonia 16, 612067
Adult onset dystonia, chorea or related movement disorder v0.2 PRKN Ellen McDonagh gene: PRKN was added
gene: PRKN was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PRKN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKN were set to PMID: 22956510
Phenotypes for gene: PRKN were set to Parkinson Disease, Juvenile; juvenile parkinsonism/dystonia; Dystonia; Parkinson disease, juvenile, type 2; Parkinson Disease 2, Autosomal Recessive Juvenile
Adult onset dystonia, chorea or related movement disorder v0.2 PNPT1 Ellen McDonagh gene: PNPT1 was added
gene: PNPT1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: PNPT1 was set to
Phenotypes for gene: PNPT1 were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 PNKD Ellen McDonagh gene: PNKD was added
gene: PNKD was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PNKD were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/; 15262732; 15496428; 15824259
Phenotypes for gene: PNKD were set to Familial Paroxysmal Nonkinesigenic Dyskinesia; PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; Paroxysmal nonkinesigenic dyskinesia, 118800
Adult onset dystonia, chorea or related movement disorder v0.2 PLP1 Ellen McDonagh gene: PLP1 was added
gene: PLP1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: PLP1 was set to
Phenotypes for gene: PLP1 were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 PINK1 Ellen McDonagh gene: PINK1 was added
gene: PINK1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PINK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PINK1 were set to Parkinson Disease 6, Autosomal Recessive Early-Onset; Parkinson disease 6, early onset, 605909; Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 PDP1 Ellen McDonagh gene: PDP1 was added
gene: PDP1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDP1 were set to 19184109; 15855260
Adult onset dystonia, chorea or related movement disorder v0.2 PDHX Ellen McDonagh gene: PDHX was added
gene: PDHX was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: PDHX was set to
Phenotypes for gene: PDHX were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 PDHA1 Ellen McDonagh gene: PDHA1 was added
gene: PDHA1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency 312170
Adult onset dystonia, chorea or related movement disorder v0.2 PDGFRB Ellen McDonagh gene: PDGFRB was added
gene: PDGFRB was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDGFRB were set to 27984190; 23255827; 26129893; 25292412
Phenotypes for gene: PDGFRB were set to Basal ganglia calcification, idiopathic, 4 615007
Adult onset dystonia, chorea or related movement disorder v0.2 PDGFB Ellen McDonagh gene: PDGFB was added
gene: PDGFB was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PDGFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDGFB were set to 26129893
Phenotypes for gene: PDGFB were set to Basal ganglia calcification, idiopathic, 5 615483
Adult onset dystonia, chorea or related movement disorder v0.2 PDE10A Ellen McDonagh gene: PDE10A was added
gene: PDE10A was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PDE10A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE10A were set to 27058447; 27058446
Phenotypes for gene: PDE10A were set to Striatal degeneration, autosomal dominant 616922; Dyskinesia, limb and orofacial, infantile-onset 616921
Adult onset dystonia, chorea or related movement disorder v0.2 PCDH12 Ellen McDonagh gene: PCDH12 was added
gene: PCDH12 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCDH12 were set to 27164683
Phenotypes for gene: PCDH12 were set to microcephaly; epilepsy; midbrain abnormalities; intellectual disability; hypothalamic abnormalities; perithalamic hyperechogenicity; periventricular hyperechogenicity
Adult onset dystonia, chorea or related movement disorder v0.2 PARK7 Ellen McDonagh gene: PARK7 was added
gene: PARK7 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PARK7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PARK7 were set to 606324; Parkinson disease 7 autosomal recessive early-onset
Adult onset dystonia, chorea or related movement disorder v0.2 PANK2 Ellen McDonagh gene: PANK2 was added
gene: PANK2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PANK2 were set to pantothenate kinase-associated neurodegeneration; Neurodegeneration with brain iron accumulation 1; Early Onset Complex Disease; Dystonia; 234200
Adult onset dystonia, chorea or related movement disorder v0.2 OPA3 Ellen McDonagh gene: OPA3 was added
gene: OPA3 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OPA3 were set to 25201222; 11668429; 20301646; 24944951; 25657044
Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501; Costeff syndrome
Adult onset dystonia, chorea or related movement disorder v0.2 OCLN Ellen McDonagh gene: OCLN was added
gene: OCLN was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: OCLN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OCLN were set to 20727516
Phenotypes for gene: OCLN were set to Band-like calcification with simplified gyration and polymicrogyria 251290
Adult onset dystonia, chorea or related movement disorder v0.2 NR4A2 Ellen McDonagh gene: NR4A2 was added
gene: NR4A2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: NR4A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NR4A2 were set to 15184637; 12496759; 15276233; 12827450; 27012974; 24126627; 15390059; 25543265
Phenotypes for gene: NR4A2 were set to Parkinson Disease, Dominant/Recessive (susceptibility to)
Adult onset dystonia, chorea or related movement disorder v0.2 NPC2 Ellen McDonagh gene: NPC2 was added
gene: NPC2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: NPC2 was set to
Phenotypes for gene: NPC2 were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 NDUFV1 Ellen McDonagh gene: NDUFV1 was added
gene: NDUFV1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFV1 were set to 10080174; 26345448
Adult onset dystonia, chorea or related movement disorder v0.2 NDUFS8 Ellen McDonagh gene: NDUFS8 was added
gene: NDUFS8 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder v0.2 NDUFS7 Ellen McDonagh gene: NDUFS7 was added
gene: NDUFS7 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder v0.2 NDUFAF2 Ellen McDonagh gene: NDUFAF2 was added
gene: NDUFAF2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF2 were set to 16200211; 20571988; 20818383
Adult onset dystonia, chorea or related movement disorder v0.2 NDUFA2 Ellen McDonagh gene: NDUFA2 was added
gene: NDUFA2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: NDUFA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA2 were set to 18513682
Adult onset dystonia, chorea or related movement disorder v0.2 MT-ND6 Ellen McDonagh gene: MT-ND6 was added
gene: MT-ND6 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND6 were set to Leber Optic Atrophy And Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 MT-ND1 Ellen McDonagh gene: MT-ND1 was added
gene: MT-ND1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL
Adult onset dystonia, chorea or related movement disorder v0.2 MT-ATP6 Ellen McDonagh gene: MT-ATP6 was added
gene: MT-ATP6 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL
Publications for gene: MT-ATP6 were set to 1550128; 11916326
Adult onset dystonia, chorea or related movement disorder v0.2 MR1 Ellen McDonagh gene: MR1 was added
gene: MR1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: MR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MR1 were set to Paroxysmal/Episodic dystonia; Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 MPV17 Ellen McDonagh gene: MPV17 was added
gene: MPV17 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: MPV17 was set to
Phenotypes for gene: MPV17 were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 MMADHC Ellen McDonagh gene: MMADHC was added
gene: MMADHC was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: MMADHC was set to
Phenotypes for gene: MMADHC were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 MCOLN1 Ellen McDonagh gene: MCOLN1 was added
gene: MCOLN1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: MCOLN1 was set to
Phenotypes for gene: MCOLN1 were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 MAT1A Ellen McDonagh gene: MAT1A was added
gene: MAT1A was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: MAT1A was set to
Phenotypes for gene: MAT1A were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 MAPT Ellen McDonagh gene: MAPT was added
gene: MAPT was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: MAPT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAPT were set to 28334843; 20301678
Phenotypes for gene: MAPT were set to Supranuclear palsy, progressive, 601104; clinical presentation suggestive of cortico-basal/PSP syndrome; Supranuclear palsy, progressive atypical, 260540; {Parkinson disease, susceptibility to}, 168600; Pick disease, 172700; Tauopathy and r; Dementia, frontotemporal, with or without parkinsonism, 600274; PARKINSON-DEMENTIA SYNDROME
Adult onset dystonia, chorea or related movement disorder v0.2 LYST Ellen McDonagh gene: LYST was added
gene: LYST was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LYST were set to 11857544; 9215680; 8896560; 9215679; 23436631
Phenotypes for gene: LYST were set to albinism; peripheral neuropathy; Chediak-Higashi syndrome 214500; Parkinsonism
Adult onset dystonia, chorea or related movement disorder v0.2 LRRK2 Ellen McDonagh gene: LRRK2 was added
gene: LRRK2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: LRRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LRRK2 were set to 28395803; 28395805; 27090875; 25391693; 28395802; 28395804
Phenotypes for gene: LRRK2 were set to LRRK2 G2019S mutation; Parkinson Disease, Dominant; Parkinson disease 8, 607060; PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; Autosomal dominant Parkinson's disease; Parkinson Disease 8, Autosomal Dominant
Mode of pathogenicity for gene: LRRK2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Adult onset dystonia, chorea or related movement disorder v0.2 L2HGDH Ellen McDonagh gene: L2HGDH was added
gene: L2HGDH was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: L2HGDH was set to
Phenotypes for gene: L2HGDH were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 KCNQ3 Ellen McDonagh gene: KCNQ3 was added
gene: KCNQ3 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNQ3 were set to Seizures, benign neonatal, type 2, 121201
Adult onset dystonia, chorea or related movement disorder v0.2 KCNQ2 Ellen McDonagh gene: KCNQ2 was added
gene: KCNQ2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNQ2 were set to Myokymia, 121200
Adult onset dystonia, chorea or related movement disorder v0.2 KCNK18 Ellen McDonagh gene: KCNK18 was added
gene: KCNK18 was added to Adult onset movement disorder. Sources: Expert Review Amber
Mode of inheritance for gene: KCNK18 was set to
Publications for gene: KCNK18 were set to 20871611; 22355750
Phenotypes for gene: KCNK18 were set to MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13
Adult onset dystonia, chorea or related movement disorder v0.2 KCNA1 Ellen McDonagh gene: KCNA1 was added
gene: KCNA1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNA1 were set to 17575281
Phenotypes for gene: KCNA1 were set to EPISODIC ATAXIA, TYPE 1; myokymia with periodic ataxia
Adult onset dystonia, chorea or related movement disorder v0.2 ISG15 Ellen McDonagh gene: ISG15 was added
gene: ISG15 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: ISG15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISG15 were set to 25307056; 22859821
Phenotypes for gene: ISG15 were set to Immunodeficiency 38 616126
Adult onset dystonia, chorea or related movement disorder v0.2 ISCA-37468-Loss Ellen McDonagh Region: ISCA-37468-Loss was added
Region: ISCA-37468-Loss was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37468-Loss was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females)
Publications for Region: ISCA-37468-Loss were set to 20485326; 22365943; 23414621
Phenotypes for Region: ISCA-37468-Loss were set to short stature; severe intellectual disability; lip-smacking; exiting behavior; autistic features; hypotonia; stereotypical hand movements; eleveated serotonin levels; episodes of sudden loss of muscle tone
Adult onset dystonia, chorea or related movement disorder v0.2 IPPK Ellen McDonagh gene: IPPK was added
gene: IPPK was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: IPPK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IPPK were set to Early Onset Complex Disease
Adult onset dystonia, chorea or related movement disorder v0.2 IFIH1 Ellen McDonagh gene: IFIH1 was added
gene: IFIH1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IFIH1 were set to Aicardi-Goutieres syndrome 7 615846
Adult onset dystonia, chorea or related movement disorder v0.2 HPRT1 Ellen McDonagh gene: HPRT1 was added
gene: HPRT1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: HPRT1 was set to
Phenotypes for gene: HPRT1 were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 HPCA Ellen McDonagh gene: HPCA was added
gene: HPCA was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: HPCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPCA were set to 30145809; 25799108
Phenotypes for gene: HPCA were set to Dystonia 2, torsion, autosomal recessive, 224500; generalized dystonia with additional neurological features; childhood-onset generalized dystonia; adolescence-onset segmental dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 HIBCH Ellen McDonagh gene: HIBCH was added
gene: HIBCH was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HIBCH were set to 3-hydroxyisobutryl-CoA hydrolase deficiency 250620
Adult onset dystonia, chorea or related movement disorder v0.2 GRN Ellen McDonagh gene: GRN was added
gene: GRN was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: GRN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GRN were set to 20301545; 17923627
Phenotypes for gene: GRN were set to Complex parkinsonism; frontotemporal lobar degeneration with TDP43 inclusions; clinical presentation suggestive of cortico-basal/PSP syndrome
Adult onset dystonia, chorea or related movement disorder v0.2 GNAO1 Ellen McDonagh gene: GNAO1 was added
gene: GNAO1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: GNAO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNAO1 were set to 27068059; 27625011; 26060304; 25966631; 28357411
Phenotypes for gene: GNAO1 were set to Neurodevelopmental disorder with involuntary movements, 617493
Adult onset dystonia, chorea or related movement disorder v0.2 GNAL Ellen McDonagh gene: GNAL was added
gene: GNAL was added to Adult onset movement disorder. Sources: Expert Review Amber
Mode of inheritance for gene: GNAL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNAL were set to 23222958; 27093447; 27222887; 24729450; 26725140; 23759320; 27123488; 24151159; 23449625; 25847575; 26810727; 24408567; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 26365774; 26506956; 25382112; 24535567
Phenotypes for gene: GNAL were set to Dystonia 25, 615073; adult-onset cranio-cervical dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 GLRB Ellen McDonagh gene: GLRB was added
gene: GLRB was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: GLRB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLRB were set to 23238346; 11929858; 21391991
Phenotypes for gene: GLRB were set to 614619 HYPEREKPLEXIA 2
Adult onset dystonia, chorea or related movement disorder v0.2 GLRA1 Ellen McDonagh gene: GLRA1 was added
gene: GLRA1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GLRA1 were set to 20301437
Phenotypes for gene: GLRA1 were set to 149400 HYPEREKPLEXIA, HEREDITARY 1
Adult onset dystonia, chorea or related movement disorder v0.2 GIGYF2 Ellen McDonagh gene: GIGYF2 was added
gene: GIGYF2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: GIGYF2 was set to
Publications for gene: GIGYF2 were set to 19279319; 18358451; 19250854; 201788319; 18923002; 20060621; 20685231; 19482505; 19449032; 19321232; 26134514; 19429085; 20044296
Phenotypes for gene: GIGYF2 were set to {Parkinson disease 11}; Susceptibility to Parkinson disease 11, 607688
Adult onset dystonia, chorea or related movement disorder v0.2 GCH1 Ellen McDonagh gene: GCH1 was added
gene: GCH1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GCH1 were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/
Phenotypes for gene: GCH1 were set to Hyperphenylalaninemia, BH4-deficient, B, 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Dopa-Responsive Dystonia (DRD)
Adult onset dystonia, chorea or related movement disorder v0.2 GCDH Ellen McDonagh gene: GCDH was added
gene: GCDH was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GCDH were set to 8900228; 8900227; 10699052; 11174631; 7795610
Adult onset dystonia, chorea or related movement disorder v0.2 GBA Ellen McDonagh gene: GBA was added
gene: GBA was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: GBA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GBA were set to 27648471; 27717005; 27632223; 29400127; 27779773
Phenotypes for gene: GBA were set to {Parkinson disease, late-onset, susceptibility to}, 168600
Adult onset dystonia, chorea or related movement disorder v0.2 GAMT Ellen McDonagh gene: GAMT was added
gene: GAMT was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: GAMT was set to
Phenotypes for gene: GAMT were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 FTL Ellen McDonagh gene: FTL was added
gene: FTL was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FTL were set to http://www.ncbi.nlm.nih.gov/pubmed/24209436; 24209436
Phenotypes for gene: FTL were set to Neurodegeneration with brain iron accumulation 3 606159; movement disorder
Adult onset dystonia, chorea or related movement disorder v0.2 FOXRED1 Ellen McDonagh gene: FOXRED1 was added
gene: FOXRED1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: FOXRED1 was set to
Phenotypes for gene: FOXRED1 were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 FOXP2 Ellen McDonagh gene: FOXP2 was added
gene: FOXP2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: FOXP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXP2 were set to 22434823; 11586359; 15877281
Phenotypes for gene: FOXP2 were set to Speech-language disorder-1 602081
Adult onset dystonia, chorea or related movement disorder v0.2 FOXG1 Ellen McDonagh gene: FOXG1 was added
gene: FOXG1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: FOXG1 was set to
Phenotypes for gene: FOXG1 were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 FBXO7 Ellen McDonagh gene: FBXO7 was added
gene: FBXO7 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: FBXO7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBXO7 were set to Parkinson disease 15, autosomal recessive, 260300; Parkinson Disease, Recessive; Early Onset Complex Disease; juvenile parkinsonism; Dystonia; parkinsonian-pyramidal syndrome
Adult onset dystonia, chorea or related movement disorder v0.2 FASTKD2 Ellen McDonagh gene: FASTKD2 was added
gene: FASTKD2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: FASTKD2 was set to
Phenotypes for gene: FASTKD2 were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 ERCC6 Ellen McDonagh gene: ERCC6 was added
gene: ERCC6 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: ERCC6 was set to
Phenotypes for gene: ERCC6 were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 EIF4G1 Ellen McDonagh gene: EIF4G1 was added
gene: EIF4G1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: EIF4G1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EIF4G1 were set to Parkinsons disease 18, 614251
Adult onset dystonia, chorea or related movement disorder v0.2 EARS2 Ellen McDonagh gene: EARS2 was added
gene: EARS2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: EARS2 was set to
Phenotypes for gene: EARS2 were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 DRD5 Ellen McDonagh gene: DRD5 was added
gene: DRD5 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: DRD5 was set to
Publications for gene: DRD5 were set to PMID: 17133500
Phenotypes for gene: DRD5 were set to {Blepharospasm, primary benign}, 606798
Adult onset dystonia, chorea or related movement disorder v0.2 DRD2 Ellen McDonagh gene: DRD2 was added
gene: DRD2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: DRD2 was set to
Publications for gene: DRD2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1414/
Phenotypes for gene: DRD2 were set to Dystonia, myoclonic, 159900
Adult onset dystonia, chorea or related movement disorder v0.2 DNAJC6 Ellen McDonagh gene: DNAJC6 was added
gene: DNAJC6 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: DNAJC6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC6 were set to 26528954; 23211418; 27687717; 26703368; 22563501
Phenotypes for gene: DNAJC6 were set to Parkinson disease 19a, juvenile-onset; Parkinson disease 19, juvenile-onset, 615528; Parkinson disease 19b, early-onset
Adult onset dystonia, chorea or related movement disorder v0.2 DDC Ellen McDonagh gene: DDC was added
gene: DDC was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: DDC was set to
Phenotypes for gene: DDC were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 DCTN1 Ellen McDonagh gene: DCTN1 was added
gene: DCTN1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DCTN1 were set to 20945553 (Gene Reviews); 24343258; 20437543; 19136952; 27132499; 27346608
Phenotypes for gene: DCTN1 were set to Perry syndrome
Adult onset dystonia, chorea or related movement disorder v0.2 DCAF17 Ellen McDonagh gene: DCAF17 was added
gene: DCAF17 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome; Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 DCAF10 Ellen McDonagh gene: DCAF10 was added
gene: DCAF10 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: DCAF10 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder v0.2 CYP27A1 Ellen McDonagh gene: CYP27A1 was added
gene: CYP27A1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: CYP27A1 was set to
Phenotypes for gene: CYP27A1 were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 CSTB Ellen McDonagh gene: CSTB was added
gene: CSTB was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSTB were set to 26843564
Phenotypes for gene: CSTB were set to microcephaly and severe dyskinesia (26843564); Epilepsy, progressive myoclonic 1A, 254800
Adult onset dystonia, chorea or related movement disorder v0.2 CSF1R Ellen McDonagh gene: CSF1R was added
gene: CSF1R was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: CSF1R was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CSF1R were set to 23787135
Phenotypes for gene: CSF1R were set to dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy; diffuse leukoencephalopathy with spheroids
Adult onset dystonia, chorea or related movement disorder v0.2 CP Ellen McDonagh gene: CP was added
gene: CP was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CP were set to Cerebellar ataxia 604290; Aceruloplasminemia; Hypoceruloplasminemia, hereditary 604290; Dystonia; Hemosiderosis, systemic, due to aceruloplasminemia 604290
Adult onset dystonia, chorea or related movement disorder v0.2 COX15 Ellen McDonagh gene: COX15 was added
gene: COX15 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder v0.2 COX10 Ellen McDonagh gene: COX10 was added
gene: COX10 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX10 were set to 10767350
Adult onset dystonia, chorea or related movement disorder v0.2 COASY Ellen McDonagh gene: COASY was added
gene: COASY was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COASY were set to 27021474
Phenotypes for gene: COASY were set to COASY protein-associated neurodegeneration; Neurodegeneration with brain iron accumulation 6
Adult onset dystonia, chorea or related movement disorder v0.2 CIZ1 Ellen McDonagh gene: CIZ1 was added
gene: CIZ1 was added to Adult onset movement disorder. Sources: Expert Review Amber
Mode of inheritance for gene: CIZ1 was set to
Phenotypes for gene: CIZ1 were set to Dystonia 23, 614860
Adult onset dystonia, chorea or related movement disorder v0.2 CHMP2B Ellen McDonagh gene: CHMP2B was added
gene: CHMP2B was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: CHMP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHMP2B were set to familial frontotemporal lobar degeneration (ALS17); Dystonia; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Adult onset dystonia, chorea or related movement disorder v0.2 CHCHD2 Ellen McDonagh gene: CHCHD2 was added
gene: CHCHD2 was added to Adult onset movement disorder. Sources: Expert Review Amber
Mode of inheritance for gene: CHCHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHCHD2 were set to Funayama, M., Ohe, K., Amo, T., Furuya, N., Yamaguchi, J., Saiki, S., Li, Y., Ogaki, K., Ando, M., Yoshino, H., Tomiyama, H., Nishioka, K., and 12 others. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. Lancet Neurol. 14: 274-282, 2015; 26067110; 26067114; 25662902
Phenotypes for gene: CHCHD2 were set to 616710; Parkinson disease 22, autosomal dominant
Adult onset dystonia, chorea or related movement disorder v0.2 CACNB4 Ellen McDonagh gene: CACNB4 was added
gene: CACNB4 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: CACNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNB4 were set to 10762541
Phenotypes for gene: CACNB4 were set to EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; EPISODIC ATAXIA, TYPE 5
Adult onset dystonia, chorea or related movement disorder v0.2 CACNA1A Ellen McDonagh gene: CACNA1A was added
gene: CACNA1A was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1A were set to 17575281; 21734179
Phenotypes for gene: CACNA1A were set to familial hemiplegic migraine type 1, 141500; episodic ataxia type 2 (EA2),108500
Adult onset dystonia, chorea or related movement disorder v0.2 C9orf72 Ellen McDonagh gene: C9orf72 was added
gene: C9orf72 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: C9orf72 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: C9orf72 were set to http://www.ncbi.nlm.nih.gov/pubmed/25326098; 25326098
Phenotypes for gene: C9orf72 were set to (Hexanucleotideexpansion); complex parkinsonism; clinical presentation suggestive of cortico-basal/PSP syndrome
Mode of pathogenicity for gene: C9orf72 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Adult onset dystonia, chorea or related movement disorder v0.2 C19orf12 Ellen McDonagh gene: C19orf12 was added
gene: C19orf12 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: C19orf12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: C19orf12 were set to neurodegeneration with brain iron accumulation-4; mitochondrial membrane protein-associated neurodegeneration; Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 BDNF Ellen McDonagh gene: BDNF was added
gene: BDNF was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: BDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BDNF were set to 23649659; 27780732
Phenotypes for gene: BDNF were set to Central hypoventilation syndrome, congenital 209880
Adult onset dystonia, chorea or related movement disorder v0.2 BCS1L Ellen McDonagh gene: BCS1L was added
gene: BCS1L was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder v0.2 BCAP31 Ellen McDonagh gene: BCAP31 was added
gene: BCAP31 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: BCAP31 were set to 28332767; 24011989
Phenotypes for gene: BCAP31 were set to Deafness, dystonia and cerebellar hypomyelination, 300475; DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS
Adult onset dystonia, chorea or related movement disorder v0.2 AUH Ellen McDonagh gene: AUH was added
gene: AUH was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: AUH was set to
Phenotypes for gene: AUH were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 ATXN3 Ellen McDonagh gene: ATXN3 was added
gene: ATXN3 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: ATXN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ATXN3 were set to (CAGexpansion); familial parkinsonism
Mode of pathogenicity for gene: ATXN3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Adult onset dystonia, chorea or related movement disorder v0.2 ATXN2 Ellen McDonagh gene: ATXN2 was added
gene: ATXN2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: ATXN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ATXN2 were set to (CAGexpansion); familial parkinsonism
Mode of pathogenicity for gene: ATXN2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Adult onset dystonia, chorea or related movement disorder v0.2 ATP7B Ellen McDonagh gene: ATP7B was added
gene: ATP7B was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP7B were set to 20301685
Phenotypes for gene: ATP7B were set to Wilson disease 277900; Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 ATP1A3 Ellen McDonagh gene: ATP1A3 was added
gene: ATP1A3 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A3 were set to 22842232; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22850527
Phenotypes for gene: ATP1A3 were set to CAPOS syndrome; rapid-onset dystonia-parkinsonism; alternating hemiplegia of childhood; Rapid-Onset Dystonia-Parkinsonism; Dystonia-12
Adult onset dystonia, chorea or related movement disorder v0.2 ATP13A2 Ellen McDonagh gene: ATP13A2 was added
gene: ATP13A2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP13A2 were set to 21060012
Phenotypes for gene: ATP13A2 were set to Parkinson disease 9, 606693; Dystonia; Kufor-Rakeb Syndrome
Adult onset dystonia, chorea or related movement disorder v0.2 ATM Ellen McDonagh gene: ATM was added
gene: ATM was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to Dystonia; Ataxia telangiectasia
Adult onset dystonia, chorea or related movement disorder v0.2 ARX Ellen McDonagh gene: ARX was added
gene: ARX was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: ARX was set to
Phenotypes for gene: ARX were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 ARSA Ellen McDonagh gene: ARSA was added
gene: ARSA was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: ARSA was set to
Phenotypes for gene: ARSA were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 APTX Ellen McDonagh gene: APTX was added
gene: APTX was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APTX were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 AP1S2 Ellen McDonagh Source Expert Review Red was added to AP1S2.
Added phenotypes Dystonia for gene: AP1S2
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset dystonia, chorea or related movement disorder v0.2 AP1S2 Ellen McDonagh gene: AP1S2 was added
gene: AP1S2 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AP1S2 were set to 17617514; 18428203; 23756445
Phenotypes for gene: AP1S2 were set to Mental retardation, X-linked syndromic 5 304340
Adult onset dystonia, chorea or related movement disorder v0.2 ANO3 Ellen McDonagh gene: ANO3 was added
gene: ANO3 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: ANO3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ANO3 were set to 27392807; 24094724 Rare variants in ANO3 are not a susceptibility factor in essential tremor; 24442708; 25847575; 24151159 Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in PTD pathogenesis; 23200863
Phenotypes for gene: ANO3 were set to familial form of cranio-cervical dystonia; Dystonia 24, 615034
Adult onset dystonia, chorea or related movement disorder v0.2 AIFM1 Ellen McDonagh gene: AIFM1 was added
gene: AIFM1 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AIFM1 were set to 20362274
Phenotypes for gene: AIFM1 were set to Combined oxidative phosphorylation deficiency 6 300816
Adult onset dystonia, chorea or related movement disorder v0.2 AFG3L2 Ellen McDonagh gene: AFG3L2 was added
gene: AFG3L2 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: AFG3L2 was set to
Phenotypes for gene: AFG3L2 were set to Dystonia
Adult onset dystonia, chorea or related movement disorder v0.2 ADCY5 Ellen McDonagh gene: ADCY5 was added
gene: ADCY5 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: ADCY5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADCY5 were set to 11310626; 24700542
Phenotypes for gene: ADCY5 were set to dystonia; Familial dyskinesia 606703; Dyskinesia, familial, with facial myokymia, 606703
Adult onset dystonia, chorea or related movement disorder v0.2 ADAR Ellen McDonagh gene: ADAR was added
gene: ADAR was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAR were set to 23001123; 28139822
Phenotypes for gene: ADAR were set to dystonia; Aicardi-Goutieres syndrome 6, 615010
Adult onset dystonia, chorea or related movement disorder v0.2 ACTB Ellen McDonagh gene: ACTB was added
gene: ACTB was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: ACTB was set to
Phenotypes for gene: ACTB were set to Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310
Structural eye disease v0.5 SIX6 Ellen McDonagh Added comment: Comment on mode of inheritance: This is a Green gene on the Anophthalmia or microphthalmia gene panel (Version 1.15, code 34) with a mode of inheritance of monoallelic for Anophthalmia/Microphthalmia/ Microphthalmia with cataract. It is Amber on the Ocular coloboma gene panel (Version 1.20, code 294), with the mode of inheritance BOTH monoallelic and biallelic, autosomal or pseudoautosomal for Optic disc anomalies with retinal and/or macular dystrophy, 212550. It is therefore monoallelic here, to represent the mode of inheritance for the highest rating.
Structural eye disease v0.5 SIX6 Ellen McDonagh Mode of inheritance for gene: SIX6 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Structural eye disease v0.2 WDR36 Ellen McDonagh gene: WDR36 was added
gene: WDR36 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: WDR36 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WDR36 were set to 17353431; 18172102; 15677485
Phenotypes for gene: WDR36 were set to Glaucoma 1, open angle, G 609887
Structural eye disease v0.2 SBF2 Ellen McDonagh gene: SBF2 was added
gene: SBF2 was added to Structural eye disease. Sources: Expert Review Amber
Mode of inheritance for gene: SBF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SBF2 were set to Charcot-Marie-Tooth disease, type 4B2 604563; CMT with early onset glaucoma
Structural eye disease v0.2 LTBP2 Ellen McDonagh gene: LTBP2 was added
gene: LTBP2 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: LTBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LTBP2 were set to 19656777; 19361779; 21081970; 20179738
Phenotypes for gene: LTBP2 were set to Glaucoma 3, primary congenital, D 613086; Primary Congenital Glaucoma
Structural eye disease v0.2 ZNF513 Ellen McDonagh gene: ZNF513 was added
gene: ZNF513 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ZNF513 was set to
Phenotypes for gene: ZNF513 were set to Eye Disorders
Structural eye disease v0.2 ZNF423 Ellen McDonagh gene: ZNF423 was added
gene: ZNF423 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ZNF423 was set to
Phenotypes for gene: ZNF423 were set to Eye Disorders
Structural eye disease v0.2 XPC Ellen McDonagh gene: XPC was added
gene: XPC was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: XPC was set to
Structural eye disease v0.2 XPA Ellen McDonagh gene: XPA was added
gene: XPA was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: XPA was set to
Structural eye disease v0.2 WT1 Ellen McDonagh gene: WT1 was added
gene: WT1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: WT1 was set to
Phenotypes for gene: WT1 were set to Eye Disorders
Structural eye disease v0.2 WHRN Ellen McDonagh gene: WHRN was added
gene: WHRN was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: WHRN was set to
Phenotypes for gene: WHRN were set to Eye Disorders
Structural eye disease v0.2 WFS1 Ellen McDonagh gene: WFS1 was added
gene: WFS1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: WFS1 was set to
Phenotypes for gene: WFS1 were set to Eye Disorders
Structural eye disease v0.2 WDPCP Ellen McDonagh gene: WDPCP was added
gene: WDPCP was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: WDPCP was set to
Phenotypes for gene: WDPCP were set to Eye Disorders
Structural eye disease v0.2 VCAN Ellen McDonagh gene: VCAN was added
gene: VCAN was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: VCAN was set to
Phenotypes for gene: VCAN were set to Eye Disorders
Structural eye disease v0.2 VAX1 Ellen McDonagh gene: VAX1 was added
gene: VAX1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: VAX1 was set to
Phenotypes for gene: VAX1 were set to Microphthalmia, syndromic 11, 614402
Structural eye disease v0.2 USH2A Ellen McDonagh gene: USH2A was added
gene: USH2A was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: USH2A was set to
Phenotypes for gene: USH2A were set to Eye Disorders
Structural eye disease v0.2 USH1G Ellen McDonagh gene: USH1G was added
gene: USH1G was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: USH1G was set to
Phenotypes for gene: USH1G were set to Eye Disorders
Structural eye disease v0.2 USH1C Ellen McDonagh gene: USH1C was added
gene: USH1C was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: USH1C was set to
Phenotypes for gene: USH1C were set to Eye Disorders
Structural eye disease v0.2 UNC119 Ellen McDonagh gene: UNC119 was added
gene: UNC119 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: UNC119 was set to
Phenotypes for gene: UNC119 were set to Eye Disorders
Structural eye disease v0.2 TYRP1 Ellen McDonagh gene: TYRP1 was added
gene: TYRP1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TYRP1 was set to
Phenotypes for gene: TYRP1 were set to Eye Disorders
Structural eye disease v0.2 TYR Ellen McDonagh gene: TYR was added
gene: TYR was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TYR was set to
Phenotypes for gene: TYR were set to Eye Disorders
Structural eye disease v0.2 TULP1 Ellen McDonagh gene: TULP1 was added
gene: TULP1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TULP1 was set to
Phenotypes for gene: TULP1 were set to Eye Disorders
Structural eye disease v0.2 TTC8 Ellen McDonagh gene: TTC8 was added
gene: TTC8 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TTC8 was set to
Phenotypes for gene: TTC8 were set to Eye Disorders
Structural eye disease v0.2 TTC21B Ellen McDonagh gene: TTC21B was added
gene: TTC21B was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TTC21B was set to
Phenotypes for gene: TTC21B were set to Eye Disorders
Structural eye disease v0.2 TSPAN12 Ellen McDonagh gene: TSPAN12 was added
gene: TSPAN12 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TSPAN12 was set to
Phenotypes for gene: TSPAN12 were set to Eye Disorders
Structural eye disease v0.2 TRPM1 Ellen McDonagh gene: TRPM1 was added
gene: TRPM1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TRPM1 was set to
Phenotypes for gene: TRPM1 were set to Eye Disorders
Structural eye disease v0.2 TRIM44 Ellen McDonagh gene: TRIM44 was added
gene: TRIM44 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TRIM44 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRIM44 were set to 26394807
Phenotypes for gene: TRIM44 were set to ?Aniridia 3
Structural eye disease v0.2 TRIM32 Ellen McDonagh gene: TRIM32 was added
gene: TRIM32 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TRIM32 was set to
Phenotypes for gene: TRIM32 were set to Eye Disorders
Structural eye disease v0.2 TPP1 Ellen McDonagh gene: TPP1 was added
gene: TPP1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TPP1 was set to
Phenotypes for gene: TPP1 were set to Eye Disorders
Structural eye disease v0.2 TP53BP2 Ellen McDonagh gene: TP53BP2 was added
gene: TP53BP2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TP53BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TP53BP2 were set to 28150229
Phenotypes for gene: TP53BP2 were set to Primary Open Angle Glaucoma
Structural eye disease v0.2 TOPORS Ellen McDonagh gene: TOPORS was added
gene: TOPORS was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TOPORS was set to
Phenotypes for gene: TOPORS were set to Eye Disorders
Structural eye disease v0.2 TMEM67 Ellen McDonagh gene: TMEM67 was added
gene: TMEM67 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM67 were set to 19058225
Phenotypes for gene: TMEM67 were set to COACH syndrome, 216360; Joubert syndrome 6
Structural eye disease v0.2 TMEM237 Ellen McDonagh gene: TMEM237 was added
gene: TMEM237 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM237 were set to 22152675
Phenotypes for gene: TMEM237 were set to Joubert syndrome
Structural eye disease v0.2 TMEM231 Ellen McDonagh gene: TMEM231 was added
gene: TMEM231 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM231 were set to 23012439; 23349226
Phenotypes for gene: TMEM231 were set to Joubert syndrome; Meckel-Gruber syndrome
Structural eye disease v0.2 TMEM216 Ellen McDonagh gene: TMEM216 was added
gene: TMEM216 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM216 were set to 20036350; 22282472; 20512146
Phenotypes for gene: TMEM216 were set to Joubert syndrome; Meckel-Gruber syndrome
Structural eye disease v0.2 TMEM138 Ellen McDonagh gene: TMEM138 was added
gene: TMEM138 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TMEM138 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM138 were set to 22282472
Phenotypes for gene: TMEM138 were set to Joubert syndrome
Structural eye disease v0.2 TMEM126A Ellen McDonagh gene: TMEM126A was added
gene: TMEM126A was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TMEM126A was set to
Phenotypes for gene: TMEM126A were set to Eye Disorders
Structural eye disease v0.2 TIMP3 Ellen McDonagh gene: TIMP3 was added
gene: TIMP3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TIMP3 was set to
Phenotypes for gene: TIMP3 were set to Eye Disorders
Structural eye disease v0.2 TIMM8A Ellen McDonagh gene: TIMM8A was added
gene: TIMM8A was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TIMM8A was set to
Phenotypes for gene: TIMM8A were set to Eye Disorders
Structural eye disease v0.2 TFAP2A Ellen McDonagh gene: TFAP2A was added
gene: TFAP2A was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TFAP2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TFAP2A were set to 10767004, 18423521
Phenotypes for gene: TFAP2A were set to Branchiooculofacial syndrome , 113620
Structural eye disease v0.2 TENM3 Ellen McDonagh gene: TENM3 was added
gene: TENM3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TENM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TENM3 were set to 22766609, 27103084, 24859618
Phenotypes for gene: TENM3 were set to Microphthalmia, isolated, with coloboma 9, 615145
Structural eye disease v0.2 TCTN3 Ellen McDonagh gene: TCTN3 was added
gene: TCTN3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCTN3 were set to 25118024
Phenotypes for gene: TCTN3 were set to Joubert syndrome; Orofaciodigital syndrome IV
Structural eye disease v0.2 TCTN2 Ellen McDonagh gene: TCTN2 was added
gene: TCTN2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCTN2 were set to 21565611; 25118024
Phenotypes for gene: TCTN2 were set to Joubert syndrome; Meckel-Gruber syndrome
Structural eye disease v0.2 TCTN1 Ellen McDonagh gene: TCTN1 was added
gene: TCTN1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCTN1 were set to 21725307; 22693042
Phenotypes for gene: TCTN1 were set to Joubert syndrome
Structural eye disease v0.2 SPINT2 Ellen McDonagh gene: SPINT2 was added
gene: SPINT2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: SPINT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPINT2 were set to 29575628; 24142340
Phenotypes for gene: SPINT2 were set to Diarrhea 3, secretory sodium, congenital, syndromic, 270420; congenital sodium diarrhea with additional features; optic nerve coloboma
Structural eye disease v0.2 SPATA7 Ellen McDonagh gene: SPATA7 was added
gene: SPATA7 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: SPATA7 was set to
Phenotypes for gene: SPATA7 were set to Eye Disorders
Structural eye disease v0.2 SNRNP200 Ellen McDonagh gene: SNRNP200 was added
gene: SNRNP200 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: SNRNP200 was set to
Phenotypes for gene: SNRNP200 were set to Eye Disorders
Structural eye disease v0.2 SLC45A2 Ellen McDonagh gene: SLC45A2 was added
gene: SLC45A2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: SLC45A2 was set to
Phenotypes for gene: SLC45A2 were set to Eye Disorders
Structural eye disease v0.2 SLC24A5 Ellen McDonagh gene: SLC24A5 was added
gene: SLC24A5 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: SLC24A5 was set to
Phenotypes for gene: SLC24A5 were set to Eye Disorders
Structural eye disease v0.2 SLC24A1 Ellen McDonagh gene: SLC24A1 was added
gene: SLC24A1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: SLC24A1 was set to
Phenotypes for gene: SLC24A1 were set to Eye Disorders
Structural eye disease v0.2 SIX3 Ellen McDonagh gene: SIX3 was added
gene: SIX3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: SIX3 were set to 21976454
Phenotypes for gene: SIX3 were set to Holoprosencephaly 2 157170
Structural eye disease v0.2 SEMA4A Ellen McDonagh gene: SEMA4A was added
gene: SEMA4A was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: SEMA4A was set to
Phenotypes for gene: SEMA4A were set to Eye Disorders
Structural eye disease v0.2 SDCCAG8 Ellen McDonagh gene: SDCCAG8 was added
gene: SDCCAG8 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: SDCCAG8 was set to
Phenotypes for gene: SDCCAG8 were set to Eye Disorders
Structural eye disease v0.2 SALL2 Ellen McDonagh gene: SALL2 was added
gene: SALL2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: SALL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SALL2 were set to 24412933
Phenotypes for gene: SALL2 were set to Coloboma, ocular, autosomal recessive 216820
Structural eye disease v0.2 SAG Ellen McDonagh gene: SAG was added
gene: SAG was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: SAG was set to
Phenotypes for gene: SAG were set to Eye Disorders
Structural eye disease v0.2 RS1 Ellen McDonagh gene: RS1 was added
gene: RS1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RS1 was set to
Phenotypes for gene: RS1 were set to Eye Disorders
Structural eye disease v0.2 RPGRIP1 Ellen McDonagh gene: RPGRIP1 was added
gene: RPGRIP1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RPGRIP1 was set to
Phenotypes for gene: RPGRIP1 were set to Eye Disorders
Structural eye disease v0.2 RPGR Ellen McDonagh gene: RPGR was added
gene: RPGR was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RPGR was set to
Phenotypes for gene: RPGR were set to Eye Disorders
Structural eye disease v0.2 RPE65 Ellen McDonagh gene: RPE65 was added
gene: RPE65 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RPE65 was set to
Phenotypes for gene: RPE65 were set to Eye Disorders
Structural eye disease v0.2 RP9 Ellen McDonagh gene: RP9 was added
gene: RP9 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RP9 was set to
Phenotypes for gene: RP9 were set to Eye Disorders
Structural eye disease v0.2 RP2 Ellen McDonagh gene: RP2 was added
gene: RP2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RP2 was set to
Phenotypes for gene: RP2 were set to Eye Disorders
Structural eye disease v0.2 RP1 Ellen McDonagh gene: RP1 was added
gene: RP1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RP1 was set to
Phenotypes for gene: RP1 were set to Eye Disorders
Structural eye disease v0.2 ROM1 Ellen McDonagh gene: ROM1 was added
gene: ROM1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ROM1 was set to
Phenotypes for gene: ROM1 were set to Eye Disorders
Structural eye disease v0.2 RLBP1 Ellen McDonagh gene: RLBP1 was added
gene: RLBP1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RLBP1 was set to
Phenotypes for gene: RLBP1 were set to Eye Disorders
Structural eye disease v0.2 RIMS1 Ellen McDonagh gene: RIMS1 was added
gene: RIMS1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RIMS1 was set to
Phenotypes for gene: RIMS1 were set to Eye Disorders
Structural eye disease v0.2 RHO Ellen McDonagh gene: RHO was added
gene: RHO was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RHO was set to
Phenotypes for gene: RHO were set to Eye Disorders
Structural eye disease v0.2 RGS9BP Ellen McDonagh gene: RGS9BP was added
gene: RGS9BP was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RGS9BP was set to
Phenotypes for gene: RGS9BP were set to Eye Disorders
Structural eye disease v0.2 RGS9 Ellen McDonagh gene: RGS9 was added
gene: RGS9 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RGS9 was set to
Phenotypes for gene: RGS9 were set to Eye Disorders
Structural eye disease v0.2 RGR Ellen McDonagh gene: RGR was added
gene: RGR was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RGR was set to
Phenotypes for gene: RGR were set to Eye Disorders
Structural eye disease v0.2 RDH5 Ellen McDonagh gene: RDH5 was added
gene: RDH5 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RDH5 was set to
Phenotypes for gene: RDH5 were set to Eye Disorders
Structural eye disease v0.2 RDH12 Ellen McDonagh gene: RDH12 was added
gene: RDH12 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RDH12 was set to
Phenotypes for gene: RDH12 were set to Eye Disorders
Structural eye disease v0.2 RD3 Ellen McDonagh gene: RD3 was added
gene: RD3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RD3 was set to
Phenotypes for gene: RD3 were set to Eye Disorders
Structural eye disease v0.2 RBP3 Ellen McDonagh gene: RBP3 was added
gene: RBP3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RBP3 was set to
Phenotypes for gene: RBP3 were set to Eye Disorders
Structural eye disease v0.2 RAX2 Ellen McDonagh gene: RAX2 was added
gene: RAX2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: RAX2 was set to
Phenotypes for gene: RAX2 were set to Eye Disorders
Structural eye disease v0.2 PRPH2 Ellen McDonagh gene: PRPH2 was added
gene: PRPH2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PRPH2 was set to
Phenotypes for gene: PRPH2 were set to Eye Disorders
Structural eye disease v0.2 PRPF8 Ellen McDonagh gene: PRPF8 was added
gene: PRPF8 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PRPF8 was set to
Phenotypes for gene: PRPF8 were set to Eye Disorders
Structural eye disease v0.2 PRPF6 Ellen McDonagh gene: PRPF6 was added
gene: PRPF6 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PRPF6 was set to
Phenotypes for gene: PRPF6 were set to Eye Disorders
Structural eye disease v0.2 PRPF31 Ellen McDonagh gene: PRPF31 was added
gene: PRPF31 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PRPF31 was set to
Phenotypes for gene: PRPF31 were set to Eye Disorders
Structural eye disease v0.2 PRPF3 Ellen McDonagh gene: PRPF3 was added
gene: PRPF3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PRPF3 was set to
Phenotypes for gene: PRPF3 were set to Eye Disorders
Structural eye disease v0.2 PROM1 Ellen McDonagh gene: PROM1 was added
gene: PROM1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PROM1 was set to
Phenotypes for gene: PROM1 were set to Eye Disorders
Structural eye disease v0.2 PRCD Ellen McDonagh gene: PRCD was added
gene: PRCD was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PRCD was set to
Phenotypes for gene: PRCD were set to Eye Disorders
Structural eye disease v0.2 PPT1 Ellen McDonagh gene: PPT1 was added
gene: PPT1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PPT1 was set to
Phenotypes for gene: PPT1 were set to Eye Disorders
Structural eye disease v0.2 POLH Ellen McDonagh gene: POLH was added
gene: POLH was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: POLH was set to
Structural eye disease v0.2 PLA2G5 Ellen McDonagh gene: PLA2G5 was added
gene: PLA2G5 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PLA2G5 was set to
Phenotypes for gene: PLA2G5 were set to Eye Disorders
Structural eye disease v0.2 PITX3 Ellen McDonagh gene: PITX3 was added
gene: PITX3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PITX3 was set to
Phenotypes for gene: PITX3 were set to Eye Disorders
Structural eye disease v0.2 PITPNM3 Ellen McDonagh gene: PITPNM3 was added
gene: PITPNM3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PITPNM3 was set to
Phenotypes for gene: PITPNM3 were set to Eye Disorders
Structural eye disease v0.2 PHYH Ellen McDonagh gene: PHYH was added
gene: PHYH was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PHYH was set to
Phenotypes for gene: PHYH were set to Eye Disorders
Structural eye disease v0.2 PEX7 Ellen McDonagh gene: PEX7 was added
gene: PEX7 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PEX7 was set to
Phenotypes for gene: PEX7 were set to Eye Disorders
Structural eye disease v0.2 PDZD7 Ellen McDonagh gene: PDZD7 was added
gene: PDZD7 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PDZD7 was set to
Phenotypes for gene: PDZD7 were set to Eye Disorders
Structural eye disease v0.2 PDE6H Ellen McDonagh gene: PDE6H was added
gene: PDE6H was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PDE6H was set to
Phenotypes for gene: PDE6H were set to Eye Disorders
Structural eye disease v0.2 PDE6G Ellen McDonagh gene: PDE6G was added
gene: PDE6G was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PDE6G was set to
Phenotypes for gene: PDE6G were set to Eye Disorders
Structural eye disease v0.2 PDE6C Ellen McDonagh gene: PDE6C was added
gene: PDE6C was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PDE6C was set to
Phenotypes for gene: PDE6C were set to Eye Disorders
Structural eye disease v0.2 PDE6B Ellen McDonagh gene: PDE6B was added
gene: PDE6B was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PDE6B was set to
Phenotypes for gene: PDE6B were set to Eye Disorders
Structural eye disease v0.2 PDE6A Ellen McDonagh gene: PDE6A was added
gene: PDE6A was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PDE6A was set to
Phenotypes for gene: PDE6A were set to Eye Disorders
Structural eye disease v0.2 PCDH15 Ellen McDonagh gene: PCDH15 was added
gene: PCDH15 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PCDH15 was set to
Phenotypes for gene: PCDH15 were set to Eye Disorders
Structural eye disease v0.2 OPA3 Ellen McDonagh gene: OPA3 was added
gene: OPA3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: OPA3 was set to
Phenotypes for gene: OPA3 were set to Eye Disorders
Structural eye disease v0.2 OPA1 Ellen McDonagh gene: OPA1 was added
gene: OPA1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: OPA1 was set to
Phenotypes for gene: OPA1 were set to {Glaucoma, normal tension, susceptibility to} 606657
Structural eye disease v0.2 OFD1 Ellen McDonagh gene: OFD1 was added
gene: OFD1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: OFD1 was set to Other - please specifiy in evaluation comments
Publications for gene: OFD1 were set to 22353940; 19800048
Phenotypes for gene: OFD1 were set to Oral-facial-digital syndrome I; X-linked Joubert syndrome
Structural eye disease v0.2 OCA2 Ellen McDonagh gene: OCA2 was added
gene: OCA2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: OCA2 was set to
Phenotypes for gene: OCA2 were set to Eye Disorders
Structural eye disease v0.2 OAT Ellen McDonagh gene: OAT was added
gene: OAT was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: OAT was set to
Phenotypes for gene: OAT were set to Eye Disorders
Structural eye disease v0.2 NYX Ellen McDonagh gene: NYX was added
gene: NYX was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: NYX was set to
Phenotypes for gene: NYX were set to Eye Disorders
Structural eye disease v0.2 NTF4 Ellen McDonagh gene: NTF4 was added
gene: NTF4 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: NTF4 was set to
Phenotypes for gene: NTF4 were set to Glaucoma 1, open angle, 1O, 613100
Structural eye disease v0.2 NRL Ellen McDonagh gene: NRL was added
gene: NRL was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: NRL was set to
Phenotypes for gene: NRL were set to Eye Disorders
Structural eye disease v0.2 NR2E3 Ellen McDonagh gene: NR2E3 was added
gene: NR2E3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: NR2E3 was set to
Phenotypes for gene: NR2E3 were set to Eye Disorders
Structural eye disease v0.2 NPHP4 Ellen McDonagh gene: NPHP4 was added
gene: NPHP4 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: NPHP4 was set to
Phenotypes for gene: NPHP4 were set to Eye Disorders
Structural eye disease v0.2 NPHP3 Ellen McDonagh gene: NPHP3 was added
gene: NPHP3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: NPHP3 was set to
Phenotypes for gene: NPHP3 were set to Eye Disorders
Structural eye disease v0.2 NPHP1 Ellen McDonagh gene: NPHP1 was added
gene: NPHP1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPHP1 were set to 15689444; 15138899; 22982934
Phenotypes for gene: NPHP1 were set to Joubert syndrome, Nephronophthisis
Structural eye disease v0.2 NDP Ellen McDonagh gene: NDP was added
gene: NDP was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: NDP was set to
Phenotypes for gene: NDP were set to Eye Disorders
Structural eye disease v0.2 NAA10 Ellen McDonagh gene: NAA10 was added
gene: NAA10 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: NAA10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NAA10 were set to 24431331, 20301694
Phenotypes for gene: NAA10 were set to Microphthalmia, syndromic 1, 309800
Structural eye disease v0.2 MYO7A Ellen McDonagh gene: MYO7A was added
gene: MYO7A was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: MYO7A was set to
Phenotypes for gene: MYO7A were set to Eye Disorders
Structural eye disease v0.2 MTTP Ellen McDonagh gene: MTTP was added
gene: MTTP was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: MTTP was set to
Phenotypes for gene: MTTP were set to Eye Disorders
Structural eye disease v0.2 MPLKIP Ellen McDonagh gene: MPLKIP was added
gene: MPLKIP was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: MPLKIP was set to
Structural eye disease v0.2 MKS1 Ellen McDonagh gene: MKS1 was added
gene: MKS1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: MKS1 was set to
Phenotypes for gene: MKS1 were set to Eye Disorders
Structural eye disease v0.2 MKKS Ellen McDonagh gene: MKKS was added
gene: MKKS was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: MKKS was set to
Phenotypes for gene: MKKS were set to Eye Disorders
Structural eye disease v0.2 MIR204 Ellen McDonagh gene: MIR204 was added
gene: MIR204 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: MIR204 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MIR204 were set to 26056285
Phenotypes for gene: MIR204 were set to Retinal dystrophy and iris coloboma with or without cataract 616722
Structural eye disease v0.2 MFSD8 Ellen McDonagh gene: MFSD8 was added
gene: MFSD8 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: MFSD8 was set to
Phenotypes for gene: MFSD8 were set to Eye Disorders
Structural eye disease v0.2 MFN2 Ellen McDonagh gene: MFN2 was added
gene: MFN2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: MFN2 was set to
Phenotypes for gene: MFN2 were set to Eye Disorders
Structural eye disease v0.2 MERTK Ellen McDonagh gene: MERTK was added
gene: MERTK was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: MERTK was set to
Phenotypes for gene: MERTK were set to Eye Disorders
Structural eye disease v0.2 MAK Ellen McDonagh gene: MAK was added
gene: MAK was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: MAK was set to
Phenotypes for gene: MAK were set to Eye Disorders
Structural eye disease v0.2 LZTFL1 Ellen McDonagh gene: LZTFL1 was added
gene: LZTFL1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: LZTFL1 was set to
Phenotypes for gene: LZTFL1 were set to Eye Disorders
Structural eye disease v0.2 LRP5 Ellen McDonagh gene: LRP5 was added
gene: LRP5 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: LRP5 was set to
Phenotypes for gene: LRP5 were set to Eye Disorders
Structural eye disease v0.2 LRMDA Ellen McDonagh gene: LRMDA was added
gene: LRMDA was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: LRMDA was set to
Phenotypes for gene: LRMDA were set to Eye Disorders
Structural eye disease v0.2 LRIT3 Ellen McDonagh gene: LRIT3 was added
gene: LRIT3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: LRIT3 was set to
Phenotypes for gene: LRIT3 were set to Eye Disorders
Structural eye disease v0.2 LRAT Ellen McDonagh gene: LRAT was added
gene: LRAT was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: LRAT was set to
Phenotypes for gene: LRAT were set to Eye Disorders
Structural eye disease v0.2 LCA5 Ellen McDonagh gene: LCA5 was added
gene: LCA5 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: LCA5 was set to
Phenotypes for gene: LCA5 were set to Eye Disorders
Structural eye disease v0.2 KLHL7 Ellen McDonagh gene: KLHL7 was added
gene: KLHL7 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: KLHL7 was set to
Phenotypes for gene: KLHL7 were set to Eye Disorders
Structural eye disease v0.2 KIF7 Ellen McDonagh gene: KIF7 was added
gene: KIF7 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF7 were set to 21633164
Phenotypes for gene: KIF7 were set to Joubert syndrome; Acrocallosal syndrome
Structural eye disease v0.2 KCTD7 Ellen McDonagh gene: KCTD7 was added
gene: KCTD7 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: KCTD7 was set to
Phenotypes for gene: KCTD7 were set to Eye Disorders
Structural eye disease v0.2 KCNV2 Ellen McDonagh gene: KCNV2 was added
gene: KCNV2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: KCNV2 was set to
Phenotypes for gene: KCNV2 were set to Eye Disorders
Structural eye disease v0.2 KCNJ13 Ellen McDonagh gene: KCNJ13 was added
gene: KCNJ13 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: KCNJ13 was set to
Phenotypes for gene: KCNJ13 were set to Eye Disorders
Structural eye disease v0.2 IQCB1 Ellen McDonagh gene: IQCB1 was added
gene: IQCB1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: IQCB1 was set to
Phenotypes for gene: IQCB1 were set to Eye Disorders
Structural eye disease v0.2 INVS Ellen McDonagh gene: INVS was added
gene: INVS was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: INVS was set to
Phenotypes for gene: INVS were set to Eye Disorders
Structural eye disease v0.2 INPP5E Ellen McDonagh gene: INPP5E was added
gene: INPP5E was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INPP5E were set to 23386033; 26748598
Phenotypes for gene: INPP5E were set to Joubert syndrome
Structural eye disease v0.2 IMPG2 Ellen McDonagh gene: IMPG2 was added
gene: IMPG2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: IMPG2 was set to
Phenotypes for gene: IMPG2 were set to Eye Disorders
Structural eye disease v0.2 IMPDH1 Ellen McDonagh gene: IMPDH1 was added
gene: IMPDH1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: IMPDH1 was set to
Phenotypes for gene: IMPDH1 were set to Eye Disorders
Structural eye disease v0.2 IDH3B Ellen McDonagh gene: IDH3B was added
gene: IDH3B was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: IDH3B was set to
Phenotypes for gene: IDH3B were set to Eye Disorders
Structural eye disease v0.2 HMGB3 Ellen McDonagh gene: HMGB3 was added
gene: HMGB3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: HMGB3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: HMGB3 were set to 4998085
Phenotypes for gene: HMGB3 were set to Microphthalmia, syndromic 13, 300915
Structural eye disease v0.2 HDAC6 Ellen McDonagh gene: HDAC6 was added
gene: HDAC6 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: HDAC6 was set to
Phenotypes for gene: HDAC6 were set to Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, andmicrophthalmia, 300863
Structural eye disease v0.2 HARS Ellen McDonagh gene: HARS was added
gene: HARS was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: HARS was set to
Phenotypes for gene: HARS were set to Eye Disorders
Structural eye disease v0.2 GUCY2D Ellen McDonagh gene: GUCY2D was added
gene: GUCY2D was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GUCY2D was set to
Phenotypes for gene: GUCY2D were set to Eye Disorders
Structural eye disease v0.2 GUCA1B Ellen McDonagh gene: GUCA1B was added
gene: GUCA1B was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GUCA1B was set to
Phenotypes for gene: GUCA1B were set to Eye Disorders
Structural eye disease v0.2 GUCA1A Ellen McDonagh gene: GUCA1A was added
gene: GUCA1A was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GUCA1A was set to
Phenotypes for gene: GUCA1A were set to Eye Disorders
Structural eye disease v0.2 GTF2H5 Ellen McDonagh gene: GTF2H5 was added
gene: GTF2H5 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GTF2H5 was set to
Structural eye disease v0.2 GRN Ellen McDonagh gene: GRN was added
gene: GRN was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GRN was set to
Phenotypes for gene: GRN were set to Eye Disorders
Structural eye disease v0.2 GRM6 Ellen McDonagh gene: GRM6 was added
gene: GRM6 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GRM6 was set to
Phenotypes for gene: GRM6 were set to Eye Disorders
Structural eye disease v0.2 GPR179 Ellen McDonagh gene: GPR179 was added
gene: GPR179 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GPR179 was set to
Phenotypes for gene: GPR179 were set to Eye Disorders
Structural eye disease v0.2 GPR143 Ellen McDonagh gene: GPR143 was added
gene: GPR143 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GPR143 was set to
Phenotypes for gene: GPR143 were set to Eye Disorders
Structural eye disease v0.2 GNAT2 Ellen McDonagh gene: GNAT2 was added
gene: GNAT2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GNAT2 was set to
Phenotypes for gene: GNAT2 were set to Eye Disorders
Structural eye disease v0.2 GNAT1 Ellen McDonagh gene: GNAT1 was added
gene: GNAT1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GNAT1 was set to
Phenotypes for gene: GNAT1 were set to Eye Disorders
Structural eye disease v0.2 GDF6 Ellen McDonagh gene: GDF6 was added
gene: GDF6 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GDF6 was set to
Phenotypes for gene: GDF6 were set to Klippel-Feil syndrome 1, autosomal dominant, 118100
Structural eye disease v0.2 GDF3 Ellen McDonagh gene: GDF3 was added
gene: GDF3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: GDF3 was set to
Phenotypes for gene: GDF3 were set to Klippel-Feil syndrome 3, autosomal dominant, 613702
Structural eye disease v0.2 FZD4 Ellen McDonagh gene: FZD4 was added
gene: FZD4 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: FZD4 was set to
Phenotypes for gene: FZD4 were set to Eye Disorders
Structural eye disease v0.2 FSCN2 Ellen McDonagh gene: FSCN2 was added
gene: FSCN2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: FSCN2 was set to
Phenotypes for gene: FSCN2 were set to Eye Disorders
Structural eye disease v0.2 FLVCR1 Ellen McDonagh gene: FLVCR1 was added
gene: FLVCR1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: FLVCR1 was set to
Phenotypes for gene: FLVCR1 were set to Eye Disorders
Structural eye disease v0.2 FAM161A Ellen McDonagh gene: FAM161A was added
gene: FAM161A was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: FAM161A was set to
Phenotypes for gene: FAM161A were set to Eye Disorders
Structural eye disease v0.2 EYS Ellen McDonagh gene: EYS was added
gene: EYS was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: EYS was set to
Phenotypes for gene: EYS were set to Eye Disorders
Structural eye disease v0.2 ERCC8 Ellen McDonagh gene: ERCC8 was added
gene: ERCC8 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ERCC8 was set to
Structural eye disease v0.2 ERCC6 Ellen McDonagh gene: ERCC6 was added
gene: ERCC6 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6 were set to Cockayne syndrome, type B, 133540Cerebrooculofacioskeletal syndrome 1, 214150De Sanctis-Cacchione syndrome, 278800{Macular degeneration, age-related, susceptibility to 5}, 613761UV-sensitive syndrome 1, 600630{Lung cancer, susceptibility to}, 211980; Cerebrooculofacioskeletal Syndrome
Structural eye disease v0.2 ERCC5 Ellen McDonagh gene: ERCC5 was added
gene: ERCC5 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ERCC5 was set to
Structural eye disease v0.2 ERCC4 Ellen McDonagh gene: ERCC4 was added
gene: ERCC4 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ERCC4 was set to
Structural eye disease v0.2 ERCC3 Ellen McDonagh gene: ERCC3 was added
gene: ERCC3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ERCC3 was set to
Structural eye disease v0.2 ERCC2 Ellen McDonagh gene: ERCC2 was added
gene: ERCC2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ERCC2 was set to
Phenotypes for gene: ERCC2 were set to Xeroderma pigmentosum, group D, 278730Trichothiodystrophy, 601675Cerebrooculofacioskeletal syndrome 2, 610756
Structural eye disease v0.2 ERCC1 Ellen McDonagh gene: ERCC1 was added
gene: ERCC1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ERCC1 was set to
Phenotypes for gene: ERCC1 were set to Cerebrooculofacioskeletal syndrome 4, 610758
Structural eye disease v0.2 ELP4 Ellen McDonagh gene: ELP4 was added
gene: ELP4 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ELP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ELP4 were set to 24290376
Phenotypes for gene: ELP4 were set to ?Aniridia 2
Structural eye disease v0.2 ELOVL4 Ellen McDonagh gene: ELOVL4 was added
gene: ELOVL4 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ELOVL4 was set to
Phenotypes for gene: ELOVL4 were set to Eye Disorders
Structural eye disease v0.2 EFEMP1 Ellen McDonagh gene: EFEMP1 was added
gene: EFEMP1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: EFEMP1 was set to
Phenotypes for gene: EFEMP1 were set to Eye Disorders
Structural eye disease v0.2 DHDDS Ellen McDonagh gene: DHDDS was added
gene: DHDDS was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: DHDDS was set to
Phenotypes for gene: DHDDS were set to Eye Disorders
Structural eye disease v0.2 DDB2 Ellen McDonagh gene: DDB2 was added
gene: DDB2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: DDB2 was set to
Structural eye disease v0.2 DDB1 Ellen McDonagh gene: DDB1 was added
gene: DDB1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: DDB1 was set to
Structural eye disease v0.2 CYP4V2 Ellen McDonagh gene: CYP4V2 was added
gene: CYP4V2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CYP4V2 was set to
Phenotypes for gene: CYP4V2 were set to Eye Disorders
Structural eye disease v0.2 CYP27A1 Ellen McDonagh gene: CYP27A1 was added
gene: CYP27A1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CYP27A1 was set to
Phenotypes for gene: CYP27A1 were set to Eye Disorders
Structural eye disease v0.2 CTSD Ellen McDonagh gene: CTSD was added
gene: CTSD was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CTSD was set to
Phenotypes for gene: CTSD were set to Eye Disorders
Structural eye disease v0.2 CRX Ellen McDonagh gene: CRX was added
gene: CRX was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CRX was set to
Phenotypes for gene: CRX were set to Eye Disorders
Structural eye disease v0.2 CRB1 Ellen McDonagh gene: CRB1 was added
gene: CRB1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CRB1 was set to
Phenotypes for gene: CRB1 were set to Eye Disorders
Structural eye disease v0.2 COL9A2 Ellen McDonagh gene: COL9A2 was added
gene: COL9A2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: COL9A2 was set to
Phenotypes for gene: COL9A2 were set to Eye Disorders
Structural eye disease v0.2 COL9A1 Ellen McDonagh gene: COL9A1 was added
gene: COL9A1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: COL9A1 was set to
Phenotypes for gene: COL9A1 were set to Eye Disorders
Structural eye disease v0.2 COL2A1 Ellen McDonagh gene: COL2A1 was added
gene: COL2A1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: COL2A1 was set to
Phenotypes for gene: COL2A1 were set to Eye Disorders
Structural eye disease v0.2 COL11A2 Ellen McDonagh gene: COL11A2 was added
gene: COL11A2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: COL11A2 was set to
Phenotypes for gene: COL11A2 were set to Eye Disorders
Structural eye disease v0.2 COL11A1 Ellen McDonagh gene: COL11A1 was added
gene: COL11A1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: COL11A1 was set to
Phenotypes for gene: COL11A1 were set to Eye Disorders
Structural eye disease v0.2 CNNM4 Ellen McDonagh gene: CNNM4 was added
gene: CNNM4 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CNNM4 was set to
Phenotypes for gene: CNNM4 were set to Eye Disorders
Structural eye disease v0.2 CNGB3 Ellen McDonagh gene: CNGB3 was added
gene: CNGB3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CNGB3 was set to
Phenotypes for gene: CNGB3 were set to Eye Disorders
Structural eye disease v0.2 CNGB1 Ellen McDonagh gene: CNGB1 was added
gene: CNGB1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CNGB1 was set to
Phenotypes for gene: CNGB1 were set to Eye Disorders
Structural eye disease v0.2 CNGA3 Ellen McDonagh gene: CNGA3 was added
gene: CNGA3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CNGA3 was set to
Phenotypes for gene: CNGA3 were set to Eye Disorders
Structural eye disease v0.2 CNGA1 Ellen McDonagh gene: CNGA1 was added
gene: CNGA1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CNGA1 was set to
Phenotypes for gene: CNGA1 were set to Eye Disorders
Structural eye disease v0.2 CLRN1 Ellen McDonagh gene: CLRN1 was added
gene: CLRN1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CLRN1 was set to
Phenotypes for gene: CLRN1 were set to Eye Disorders
Structural eye disease v0.2 CLN8 Ellen McDonagh gene: CLN8 was added
gene: CLN8 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CLN8 was set to
Phenotypes for gene: CLN8 were set to Eye Disorders
Structural eye disease v0.2 CLN6 Ellen McDonagh gene: CLN6 was added
gene: CLN6 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CLN6 was set to
Phenotypes for gene: CLN6 were set to Eye Disorders
Structural eye disease v0.2 CLN5 Ellen McDonagh gene: CLN5 was added
gene: CLN5 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CLN5 was set to
Phenotypes for gene: CLN5 were set to Eye Disorders
Structural eye disease v0.2 CLN3 Ellen McDonagh gene: CLN3 was added
gene: CLN3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CLN3 was set to
Phenotypes for gene: CLN3 were set to Eye Disorders
Structural eye disease v0.2 CIB2 Ellen McDonagh gene: CIB2 was added
gene: CIB2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CIB2 was set to
Phenotypes for gene: CIB2 were set to Eye Disorders
Structural eye disease v0.2 CHM Ellen McDonagh gene: CHM was added
gene: CHM was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CHM was set to
Phenotypes for gene: CHM were set to Eye Disorders
Structural eye disease v0.2 CERKL Ellen McDonagh gene: CERKL was added
gene: CERKL was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CERKL was set to
Phenotypes for gene: CERKL were set to Eye Disorders
Structural eye disease v0.2 CEP41 Ellen McDonagh gene: CEP41 was added
gene: CEP41 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP41 were set to 22246503
Phenotypes for gene: CEP41 were set to Joubert syndrome
Structural eye disease v0.2 CEP290 Ellen McDonagh gene: CEP290 was added
gene: CEP290 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP290 were set to Joubert syndrome 5
Structural eye disease v0.2 CDHR1 Ellen McDonagh gene: CDHR1 was added
gene: CDHR1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CDHR1 was set to
Phenotypes for gene: CDHR1 were set to Eye Disorders
Structural eye disease v0.2 CDH3 Ellen McDonagh gene: CDH3 was added
gene: CDH3 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CDH3 was set to
Phenotypes for gene: CDH3 were set to Eye Disorders
Structural eye disease v0.2 CDH23 Ellen McDonagh gene: CDH23 was added
gene: CDH23 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CDH23 was set to
Phenotypes for gene: CDH23 were set to Eye Disorders
Structural eye disease v0.2 CACNA2D4 Ellen McDonagh gene: CACNA2D4 was added
gene: CACNA2D4 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CACNA2D4 was set to
Phenotypes for gene: CACNA2D4 were set to Eye Disorders
Structural eye disease v0.2 CACNA1F Ellen McDonagh gene: CACNA1F was added
gene: CACNA1F was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CACNA1F was set to
Phenotypes for gene: CACNA1F were set to Eye Disorders
Structural eye disease v0.2 CABP4 Ellen McDonagh gene: CABP4 was added
gene: CABP4 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CABP4 was set to
Phenotypes for gene: CABP4 were set to Eye Disorders
Structural eye disease v0.2 CA4 Ellen McDonagh gene: CA4 was added
gene: CA4 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: CA4 was set to
Phenotypes for gene: CA4 were set to Eye Disorders
Structural eye disease v0.2 C8orf37 Ellen McDonagh gene: C8orf37 was added
gene: C8orf37 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: C8orf37 was set to
Phenotypes for gene: C8orf37 were set to Eye Disorders
Structural eye disease v0.2 C5orf42 Ellen McDonagh gene: C5orf42 was added
gene: C5orf42 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C5orf42 were set to 22425360; 22693042; 25920555
Phenotypes for gene: C5orf42 were set to Oral-facial-digital syndrome type VI; Joubert syndrome
Structural eye disease v0.2 C2orf71 Ellen McDonagh gene: C2orf71 was added
gene: C2orf71 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: C2orf71 was set to
Phenotypes for gene: C2orf71 were set to Eye Disorders
Structural eye disease v0.2 C1QTNF5 Ellen McDonagh gene: C1QTNF5 was added
gene: C1QTNF5 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: C1QTNF5 was set to
Phenotypes for gene: C1QTNF5 were set to Eye Disorders
Structural eye disease v0.2 BMPR1A Ellen McDonagh gene: BMPR1A was added
gene: BMPR1A was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: BMPR1A was set to
Structural eye disease v0.2 BMP7 Ellen McDonagh gene: BMP7 was added
gene: BMP7 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: BMP7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMP7 were set to 20506283
Structural eye disease v0.2 BEST1 Ellen McDonagh gene: BEST1 was added
gene: BEST1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: BEST1 was set to
Phenotypes for gene: BEST1 were set to Eye Disorders
Structural eye disease v0.2 BBS9 Ellen McDonagh gene: BBS9 was added
gene: BBS9 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: BBS9 was set to
Phenotypes for gene: BBS9 were set to Eye Disorders
Structural eye disease v0.2 BBS7 Ellen McDonagh gene: BBS7 was added
gene: BBS7 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: BBS7 was set to
Phenotypes for gene: BBS7 were set to Eye Disorders
Structural eye disease v0.2 BBS5 Ellen McDonagh gene: BBS5 was added
gene: BBS5 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: BBS5 was set to
Phenotypes for gene: BBS5 were set to Eye Disorders
Structural eye disease v0.2 BBS4 Ellen McDonagh gene: BBS4 was added
gene: BBS4 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: BBS4 was set to
Phenotypes for gene: BBS4 were set to Eye Disorders
Structural eye disease v0.2 BBS2 Ellen McDonagh gene: BBS2 was added
gene: BBS2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: BBS2 was set to
Phenotypes for gene: BBS2 were set to Eye Disorders
Structural eye disease v0.2 BBS12 Ellen McDonagh gene: BBS12 was added
gene: BBS12 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: BBS12 was set to
Phenotypes for gene: BBS12 were set to Eye Disorders
Structural eye disease v0.2 BBS10 Ellen McDonagh gene: BBS10 was added
gene: BBS10 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: BBS10 was set to
Phenotypes for gene: BBS10 were set to Eye Disorders
Structural eye disease v0.2 BBS1 Ellen McDonagh gene: BBS1 was added
gene: BBS1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: BBS1 was set to
Phenotypes for gene: BBS1 were set to Eye Disorders
Structural eye disease v0.2 B3GLCT Ellen McDonagh gene: B3GLCT was added
gene: B3GLCT was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: B3GLCT was set to
Phenotypes for gene: B3GLCT were set to Eye Disorders
Structural eye disease v0.2 ATP13A2 Ellen McDonagh gene: ATP13A2 was added
gene: ATP13A2 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ATP13A2 was set to
Phenotypes for gene: ATP13A2 were set to Eye Disorders
Structural eye disease v0.2 ATOH7 Ellen McDonagh gene: ATOH7 was added
gene: ATOH7 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ATOH7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATOH7 were set to 1838; 8779
Phenotypes for gene: ATOH7 were set to AR Persistent hyperplasia of primary vitreous - optic nerve dysplasia, retinal detachment
Structural eye disease v0.2 ASB10 Ellen McDonagh gene: ASB10 was added
gene: ASB10 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ASB10 was set to
Phenotypes for gene: ASB10 were set to Glaucoma 1, open angle, F, 603383
Structural eye disease v0.2 ARL6 Ellen McDonagh gene: ARL6 was added
gene: ARL6 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ARL6 was set to
Phenotypes for gene: ARL6 were set to Eye Disorders
Structural eye disease v0.2 ARL13B Ellen McDonagh gene: ARL13B was added
gene: ARL13B was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL13B were set to 18674751; 25138100
Phenotypes for gene: ARL13B were set to Joubert syndrome 8
Structural eye disease v0.2 ALMS1 Ellen McDonagh gene: ALMS1 was added
gene: ALMS1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ALMS1 was set to
Phenotypes for gene: ALMS1 were set to Eye Disorders
Structural eye disease v0.2 AIPL1 Ellen McDonagh gene: AIPL1 was added
gene: AIPL1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: AIPL1 was set to
Phenotypes for gene: AIPL1 were set to Eye Disorders
Structural eye disease v0.2 AHI1 Ellen McDonagh gene: AHI1 was added
gene: AHI1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AHI1 were set to Joubert syndrome-3
Structural eye disease v0.2 ADGRV1 Ellen McDonagh gene: ADGRV1 was added
gene: ADGRV1 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ADGRV1 was set to
Phenotypes for gene: ADGRV1 were set to Eye Disorders
Structural eye disease v0.2 ADAM9 Ellen McDonagh gene: ADAM9 was added
gene: ADAM9 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ADAM9 was set to
Phenotypes for gene: ADAM9 were set to Eye Disorders
Structural eye disease v0.2 ABHD12 Ellen McDonagh gene: ABHD12 was added
gene: ABHD12 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ABHD12 was set to
Phenotypes for gene: ABHD12 were set to Eye Disorders
Structural eye disease v0.2 ABCB6 Ellen McDonagh gene: ABCB6 was added
gene: ABCB6 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ABCB6 was set to
Phenotypes for gene: ABCB6 were set to Microphthalmia, isolated, with coloboma 7, 614497[Blood group, Langereis system], 111600Dyschromatosis universalis hereditaria 3, 615402
Structural eye disease v0.2 ABCA4 Ellen McDonagh gene: ABCA4 was added
gene: ABCA4 was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: ABCA4 was set to
Phenotypes for gene: ABCA4 were set to Eye Disorders
Structural eye disease v0.2 TUBGCP4 Ellen McDonagh gene: TUBGCP4 was added
gene: TUBGCP4 was added to Structural eye disease. Sources: Expert Review Amber
Mode of inheritance for gene: TUBGCP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBGCP4 were set to 25817018
Phenotypes for gene: TUBGCP4 were set to Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335
Structural eye disease v0.2 RBP4 Ellen McDonagh gene: RBP4 was added
gene: RBP4 was added to Structural eye disease. Sources: Expert Review Amber
Mode of inheritance for gene: RBP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBP4 were set to 9888420
Phenotypes for gene: RBP4 were set to Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147
Structural eye disease v0.2 PIGL Ellen McDonagh gene: PIGL was added
gene: PIGL was added to Structural eye disease. Sources: Expert Review Amber
Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGL were set to 22444671
Phenotypes for gene: PIGL were set to CHIME syndrome, 280000; Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome
Structural eye disease v0.2 MAF Ellen McDonagh gene: MAF was added
gene: MAF was added to Structural eye disease. Sources: Expert Review Amber
Mode of inheritance for gene: MAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAF were set to 11772997
Phenotypes for gene: MAF were set to Cataract 21, multiple types 610202
Structural eye disease v0.2 LRP2 Ellen McDonagh gene: LRP2 was added
gene: LRP2 was added to Structural eye disease. Sources: Expert Review Amber
Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRP2 were set to 17632512, 8266995
Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome, 222448
Structural eye disease v0.2 IGBP1 Ellen McDonagh gene: IGBP1 was added
gene: IGBP1 was added to Structural eye disease. Sources: Expert Review Amber
Mode of inheritance for gene: IGBP1 was set to
Phenotypes for gene: IGBP1 were set to Corpus callosum, agenesis of, with mental retardation, ocular coloboma andmicrognathia, 300472
Structural eye disease v0.2 HMX1 Ellen McDonagh gene: HMX1 was added
gene: HMX1 was added to Structural eye disease. Sources: Expert Review Amber
Mode of inheritance for gene: HMX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HMX1 were set to 18423520; 21417677; 25574057
Phenotypes for gene: HMX1 were set to Oculoauricular syndrome 612109
Structural eye disease v0.2 GJA1 Ellen McDonagh gene: GJA1 was added
gene: GJA1 was added to Structural eye disease. Sources: Expert Review Amber
Mode of inheritance for gene: GJA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GJA1 were set to 21273537; 25976645
Phenotypes for gene: GJA1 were set to Oculodentodigital dysplasia; open angle glaucoma (OAG) and microcornea
Structural eye disease v0.2 DDX58 Ellen McDonagh gene: DDX58 was added
gene: DDX58 was added to Structural eye disease. Sources: Expert Review Amber
Mode of inheritance for gene: DDX58 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DDX58 were set to 3588; 25620203; 2509
Phenotypes for gene: DDX58 were set to Atypical Singleton-Merton syndrome (AD) - glaucoma and skeletal abnormalities.
Structural eye disease v0.2 YAP1 Ellen McDonagh gene: YAP1 was added
gene: YAP1 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: YAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: YAP1 were set to 24462371; 27267789; 26209646
Phenotypes for gene: YAP1 were set to isolated ocular coloboma; Coloboma, ocular, 120433; Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mentalretardation, 120433
Structural eye disease v0.2 VSX2 Ellen McDonagh gene: VSX2 was added
gene: VSX2 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: VSX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VSX2 were set to 10932181, 24859618
Phenotypes for gene: VSX2 were set to Microphthalmia with coloboma 3, 610092
Structural eye disease v0.2 TMEM98 Ellen McDonagh gene: TMEM98 was added
gene: TMEM98 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: TMEM98 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TMEM98 were set to 26392740; 24852644
Phenotypes for gene: TMEM98 were set to NNO4; Nanophthalmos 4, 615972
Structural eye disease v0.2 TBC1D20 Ellen McDonagh gene: TBC1D20 was added
gene: TBC1D20 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: TBC1D20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D20 were set to Warburg micro syndrome 4, 615663
Structural eye disease v0.2 STRA6 Ellen McDonagh gene: STRA6 was added
gene: STRA6 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STRA6 were set to 17273977, 24859618
Phenotypes for gene: STRA6 were set to Syndromic Microphthalmia, Recessive; Microphthalmia, isolated, with coloboma 8, 601186; Microphthalmia, syndromic 9, 601186
Structural eye disease v0.2 SOX2 Ellen McDonagh gene: SOX2 was added
gene: SOX2 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX2 were set to 12612584, 24859618
Phenotypes for gene: SOX2 were set to Microphthalmia, syndromic 3 206900
Structural eye disease v0.2 SMOC1 Ellen McDonagh gene: SMOC1 was added
gene: SMOC1 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: SMOC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMOC1 were set to Microphthalmia with limb anomalies, 206920
Structural eye disease v0.2 SMO Ellen McDonagh gene: SMO was added
gene: SMO was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: SMO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMO were set to 27236920
Phenotypes for gene: SMO were set to Curry-Jones syndrome, somatic mosaic 601707
Structural eye disease v0.2 SIX6 Ellen McDonagh gene: SIX6 was added
gene: SIX6 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: SIX6 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SIX6 were set to 23167593, 24702266
Phenotypes for gene: SIX6 were set to Microphthalmia with cataract 2, 212550; Optic disc anomalies with retinal and/or macular dystrophy, 212550; Anophthalmia/Microphthalmia
Structural eye disease v0.2 SHH Ellen McDonagh gene: SHH was added
gene: SHH was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHH were set to Holoprosencephaly-3, 142945; Microphthalmia with coloboma 5, 611638; Single median maxillary central incisor, 147250; Schizencephaly, 269160
Structural eye disease v0.2 SALL4 Ellen McDonagh gene: SALL4 was added
gene: SALL4 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SALL4 were set to 12843316, 6426304
Phenotypes for gene: SALL4 were set to Duane-radial ray syndrome, 607323
Structural eye disease v0.2 RPGRIP1L Ellen McDonagh gene: RPGRIP1L was added
gene: RPGRIP1L was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPGRIP1L were set to 19574260
Phenotypes for gene: RPGRIP1L were set to COACH syndrome, 216360
Structural eye disease v0.2 RAX Ellen McDonagh gene: RAX was added
gene: RAX was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAX were set to Anophthalmia/Microphthalmia
Structural eye disease v0.2 RARB Ellen McDonagh gene: RARB was added
gene: RARB was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: RARB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RARB were set to 24859618
Phenotypes for gene: RARB were set to Microphthalmia, syndromic 12, 615524
Structural eye disease v0.2 RAB3GAP2 Ellen McDonagh gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB3GAP2 were set to Martsolf syndrome, 212720Warburg micro syndrome 2, 614225; Warburg Micro Syndrome
Structural eye disease v0.2 RAB3GAP1 Ellen McDonagh gene: RAB3GAP1 was added
gene: RAB3GAP1 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB3GAP1 were set to Warburg micro syndrome 1, 600118; Warburg Micro Syndrome
Structural eye disease v0.2 RAB18 Ellen McDonagh gene: RAB18 was added
gene: RAB18 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: RAB18 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB18 were set to Warburg micro syndrome 3, 614222; Warburg Micro Syndrome
Structural eye disease v0.2 PUF60 Ellen McDonagh gene: PUF60 was added
gene: PUF60 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: PUF60 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PUF60 were set to 19464398; 24140112; 27804958; 28327570
Phenotypes for gene: PUF60 were set to Verheij syndrome, 615583; VRJS; ocular abnormalities; PUF60 syndrome; Chromosome 8q24.3 deletion syndrome
Structural eye disease v0.2 PRSS56 Ellen McDonagh gene: PRSS56 was added
gene: PRSS56 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: PRSS56 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRSS56 were set to Microphthalmia, isolated 6, 613517
Structural eye disease v0.2 PORCN Ellen McDonagh gene: PORCN was added
gene: PORCN was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: PORCN were set to 17546030, 24859618
Phenotypes for gene: PORCN were set to Focal dermal hypoplasia 305600
Structural eye disease v0.2 PAX2 Ellen McDonagh gene: PAX2 was added
gene: PAX2 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: PAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAX2 were set to 8589702
Phenotypes for gene: PAX2 were set to Papillorenal syndrome 120330
Structural eye disease v0.2 OTX2 Ellen McDonagh gene: OTX2 was added
gene: OTX2 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OTX2 were set to 15846561, 18781617,24859618
Phenotypes for gene: OTX2 were set to OTX2-Related Syndromic Microphthalmia; severe, bilateral cases; Microphthalmia, syndromic 5, 610125
Structural eye disease v0.2 MYOC Ellen McDonagh gene: MYOC was added
gene: MYOC was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: MYOC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYOC were set to 9535666; 12522550; 9345106; 9328473; 9005853; 9697688; 10330365
Phenotypes for gene: MYOC were set to Glaucoma 1A, primary open angle, 137750
Structural eye disease v0.2 MFRP Ellen McDonagh gene: MFRP was added
gene: MFRP was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: MFRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFRP were set to Microphthalmia, isolated 5, 611040; Isolated Microphthalmia
Structural eye disease v0.2 MAB21L2 Ellen McDonagh gene: MAB21L2 was added
gene: MAB21L2 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: MAB21L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MAB21L2 were set to 24906020; 25719200
Phenotypes for gene: MAB21L2 were set to Microphthalmia, syndromic 14, 615877
Structural eye disease v0.2 HCCS Ellen McDonagh gene: HCCS was added
gene: HCCS was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: HCCS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: HCCS were set to 17033964, 24859618
Phenotypes for gene: HCCS were set to Linear skin defects with multiple congenital anomalies 1, 309801; Microphthalmia, syndromic 7, 309801
Structural eye disease v0.2 GRIP1 Ellen McDonagh gene: GRIP1 was added
gene: GRIP1 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: GRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRIP1 were set to Eye Disorders
Structural eye disease v0.2 FREM2 Ellen McDonagh gene: FREM2 was added
gene: FREM2 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FREM2 were set to Eye Disorders
Structural eye disease v0.2 FREM1 Ellen McDonagh gene: FREM1 was added
gene: FREM1 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.2 FRAS1 Ellen McDonagh gene: FRAS1 was added
gene: FRAS1 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.2 FOXE3 Ellen McDonagh gene: FOXE3 was added
gene: FOXE3 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: FOXE3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOXE3 were set to 11159941; 21150893; 27218149; 16826526; 20361012; 24859618, 19708017
Phenotypes for gene: FOXE3 were set to Anterior segment dysgenesis 2, multiple subtypes 610256; Anterior segment mesenchymal dysgenesis 107250
Structural eye disease v0.2 FOXD3 Ellen McDonagh gene: FOXD3 was added
gene: FOXD3 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: FOXD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXD3 were set to 22815627
Phenotypes for gene: FOXD3 were set to aniridia; Peters anomaly; Anterior segment dysgenesis
Structural eye disease v0.2 FOXC1 Ellen McDonagh gene: FOXC1 was added
gene: FOXC1 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXC1 were set to 9620769; 10713890; 12036988; 17210863; 12614756; 11007653
Phenotypes for gene: FOXC1 were set to Anterior segment dysgenesis 3, multiple subtypes 601631; Axenfeld-Rieger syndrome, type 3 602482
Structural eye disease v0.2 CYP1B1 Ellen McDonagh gene: CYP1B1 was added
gene: CYP1B1 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: CYP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP1B1 were set to 9463332; 9097971; 9497261; 12372064
Phenotypes for gene: CYP1B1 were set to Glaucoma 3, Primary Congenital, A; GLC3A; 231300; Peters anomaly, 604229; Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset; primary congenital glaucoma; Primary Congenital Glaucoma
Structural eye disease v0.2 COL4A1 Ellen McDonagh gene: COL4A1 was added
gene: COL4A1 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Structural eye disease v0.2 CLDN19 Ellen McDonagh gene: CLDN19 was added
gene: CLDN19 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN19 were set to 17033971, 500385
Phenotypes for gene: CLDN19 were set to Hypomagnesemia 5, renal, with ocular involvement, 248190
Structural eye disease v0.2 CHD7 Ellen McDonagh gene: CHD7 was added
gene: CHD7 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD7 were set to 16400610
Phenotypes for gene: CHD7 were set to CHARGE syndrome, 214800
Mode of pathogenicity for gene: CHD7 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Structural eye disease v0.2 CC2D2A Ellen McDonagh gene: CC2D2A was added
gene: CC2D2A was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CC2D2A were set to 19574260
Phenotypes for gene: CC2D2A were set to COACH syndrome, 216360
Structural eye disease v0.2 C12orf57 Ellen McDonagh gene: C12orf57 was added
gene: C12orf57 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: C12orf57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C12orf57 were set to 23453665, 24859618
Phenotypes for gene: C12orf57 were set to Temtamy syndrome, 218340
Structural eye disease v0.2 BMP4 Ellen McDonagh gene: BMP4 was added
gene: BMP4 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: BMP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BMP4 were set to 18252212, 2427285
Phenotypes for gene: BMP4 were set to Orofacial cleft 11, 600625; BMP4-Related Syndromic Microphthalmia; Microphthalmia, syndromic 6, 607932
Structural eye disease v0.2 BCOR Ellen McDonagh gene: BCOR was added
gene: BCOR was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: BCOR was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: BCOR were set to Microphthalmia, syndromic 2, 300166
Structural eye disease v0.2 B3GALT1 Ellen McDonagh gene: B3GALT1 was added
gene: B3GALT1 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: B3GALT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GALT1 were set to 16909395
Phenotypes for gene: B3GALT1 were set to Peters-plus syndrome, 261540
Structural eye disease v0.2 ALDH1A3 Ellen McDonagh gene: ALDH1A3 was added
gene: ALDH1A3 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: ALDH1A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH1A3 were set to 24859610; 23591992
Phenotypes for gene: ALDH1A3 were set to Microphthalmia, isolated 8 615113
Structural eye disease v0.2 ADAMTS17 Ellen McDonagh gene: ADAMTS17 was added
gene: ADAMTS17 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: ADAMTS17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS17 were set to 6506; 19836009; 2268
Phenotypes for gene: ADAMTS17 were set to Weill-Marchesani-like syndrome- lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature, but no brachydactyly (AR)
Structural eye disease v0.2 ADAMTS10 Ellen McDonagh gene: ADAMTS10 was added
gene: ADAMTS10 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: ADAMTS10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS10 were set to 18567016; 19836009; 15368195
Phenotypes for gene: ADAMTS10 were set to Weill-Marchesani syndrome 1, recessive
Structural eye disease v0.2 ACTG1 Ellen McDonagh gene: ACTG1 was added
gene: ACTG1 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTG1 were set to 22366783
Phenotypes for gene: ACTG1 were set to Baraitser-Winter syndrome 2, 614583
Structural eye disease v0.2 ACTB Ellen McDonagh gene: ACTB was added
gene: ACTB was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTB were set to 2505231
Phenotypes for gene: ACTB were set to Baraitser-Winter syndrome 1, 243310
Structural eye disease v0.2 PAX6 Ellen McDonagh gene: PAX6 was added
gene: PAX6 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAX6 were set to 12552561; 11826019; 11553050; 17406642; 7666404; 17595013; 8111379; 7550230; 7951315; 9931324; 1302030; 19876904; 17148041
Phenotypes for gene: PAX6 were set to Anophthalmia; Gillespie syndrome, 206700; Cataract with late-onset corneal dystrohpy, 106210; ?Morning glory disc anomaly, 120430; Aniridia, 106210; Peters anomaly, 604229; Coloboma of optic nerve, 120430; Aniridia 106210; Foveal hypoplasia 1, 136520; Keratitis, 148190; Optic nerve hypoplasia, 165550; Coloboma, ocular, 120200
Structural eye disease v0.2 ISCA-37393-Gain Ellen McDonagh Region: ISCA-37393-Gain was added
Region: ISCA-37393-Gain was added to Structural eye disease. Sources: Expert Review Green,ClinGen
Mode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37393-Gain were set to 22890013; 11693792; 22495764
Phenotypes for Region: ISCA-37393-Gain were set to 115470; PMID 22890013: variable phenotype including developmental delay, ocular coloboma, preauricular tags/pits, cleft palate, skeletal defects, heart defects, urogenital defect, anal defect, hearing loss, clinodactyly of fifth fingers, umbilical hernia, accessory spleen, strabismus, shortening of the fifth finger. PMID 22495764: Inter and intra individual variability of phenotype, mosaic. PMID 11693792: preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome
Structural eye disease v0.2 PITX2 Ellen McDonagh gene: PITX2 was added
gene: PITX2 was added to Structural eye disease. Sources: Expert Review Green
Mode of inheritance for gene: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PITX2 were set to 9685346; 9618168; 10051017; 8944018; 18723525; 11487566
Phenotypes for gene: PITX2 were set to Anterior segment dysgenesis 4 137600; Axenfeld-Rieger syndrome, type 1 180500
Structural eye disease v0.2 OPTN Ellen McDonagh gene: OPTN was added
gene: OPTN was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: OPTN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: OPTN were set to 11834836
Phenotypes for gene: OPTN were set to Glaucoma 1, open angle, E 137760; {Glaucoma, normal tension, susceptibility to} 606657
Albinism or congenital nystagmus v0.2 TYRP1 Ellen McDonagh gene: TYRP1 was added
gene: TYRP1 was added to Albinism or congenital nystagmus. Sources: Expert Review Green
Mode of inheritance for gene: TYRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYRP1 were set to Albinism, oculocutaneous, type III; Oculocutaneous Albinism
Albinism or congenital nystagmus v0.2 TYR Ellen McDonagh gene: TYR was added
gene: TYR was added to Albinism or congenital nystagmus. Sources: Expert Review Green
Mode of inheritance for gene: TYR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TYR were set to Albinism, oculocutaneous, type IA; Waardenburg syndrome/albinism, digenic; Albinism, oculocutaneous, type IB; Oculocutaneous Albinism
Albinism or congenital nystagmus v0.2 SLC45A2 Ellen McDonagh gene: SLC45A2 was added
gene: SLC45A2 was added to Albinism or congenital nystagmus. Sources: Expert Review Green
Mode of inheritance for gene: SLC45A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC45A2 were set to Oculocutaneous albinism type IV,606574; skin/hair/eye pigmentation 5,227240; Albinism, oculocutaneous, type IV; Oculocutaneous Albinism
Albinism or congenital nystagmus v0.2 SLC24A5 Ellen McDonagh gene: SLC24A5 was added
gene: SLC24A5 was added to Albinism or congenital nystagmus. Sources: Expert Review Green
Mode of inheritance for gene: SLC24A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC24A5 were set to 23985994 - homozygous variants identified in an additional 5 patients with Non-Syndromic Oculocutaneous Albinism; 27129268 - functional data to support the phenotypic effects of variants reported; 23364476 - case report of patient of Chinese origin; 26686029 case identified in a cohort South-Italian origin
Phenotypes for gene: SLC24A5 were set to Albinism, oculocutaneous, type VI; Non-Syndromic Oculocutaneous Albinism
Albinism or congenital nystagmus v0.2 OCA2 Ellen McDonagh gene: OCA2 was added
gene: OCA2 was added to Albinism or congenital nystagmus. Sources: Expert Review Green
Mode of inheritance for gene: OCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OCA2 were set to Skin/hair/eye pigmentation 1, blue/nonblue eyes; Albinism, brown oculocutaneous; Albinism, oculocutaneous, type II; Skin/hair/eye pigmentation 1, blond/brown hair; Oculocutaneous Albinism
Albinism or congenital nystagmus v0.2 MT-ND6 Ellen McDonagh gene: MT-ND6 was added
gene: MT-ND6 was added to Albinism or congenital nystagmus. Sources: Expert Review Red
Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL
Publications for gene: MT-ND6 were set to 26448634
Phenotypes for gene: MT-ND6 were set to Nystagmus
Albinism or congenital nystagmus v0.2 MT-ND2 Ellen McDonagh gene: MT-ND2 was added
gene: MT-ND2 was added to Albinism or congenital nystagmus. Sources: Expert Review Red
Mode of inheritance for gene gene: MT-ND2 was set to MITOCHONDRIAL
Publications for gene: MT-ND2 were set to 26448634
Phenotypes for gene: MT-ND2 were set to Retinal degeneration and nystagmus
Albinism or congenital nystagmus v0.2 MT-CYB Ellen McDonagh gene: MT-CYB was added
gene: MT-CYB was added to Albinism or congenital nystagmus. Sources: Expert Review Red
Mode of inheritance for gene gene: MT-CYB was set to MITOCHONDRIAL
Publications for gene: MT-CYB were set to 26448634
Phenotypes for gene: MT-CYB were set to Nystagmus
Albinism or congenital nystagmus v0.2 MT-CO3 Ellen McDonagh gene: MT-CO3 was added
gene: MT-CO3 was added to Albinism or congenital nystagmus. Sources: Expert Review Red
Mode of inheritance for gene gene: MT-CO3 was set to MITOCHONDRIAL
Publications for gene: MT-CO3 were set to 26448634
Phenotypes for gene: MT-CO3 were set to Nystagmus
Albinism or congenital nystagmus v0.2 MT-CO1 Ellen McDonagh gene: MT-CO1 was added
gene: MT-CO1 was added to Albinism or congenital nystagmus. Sources: Expert Review Red
Mode of inheritance for gene gene: MT-CO1 was set to MITOCHONDRIAL
Publications for gene: MT-CO1 were set to 26448634
Phenotypes for gene: MT-CO1 were set to Nystagmus; Optic neuropathy
Albinism or congenital nystagmus v0.2 MT-ATP6 Ellen McDonagh gene: MT-ATP6 was added
gene: MT-ATP6 was added to Albinism or congenital nystagmus. Sources: Expert Review Red
Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL
Publications for gene: MT-ATP6 were set to 26448634
Phenotypes for gene: MT-ATP6 were set to Retinal degeneration and nystagmus; Optic neuropathy and nystagmus; Nystagmus
Albinism or congenital nystagmus v0.2 MITF Ellen McDonagh gene: MITF was added
gene: MITF was added to Albinism or congenital nystagmus. Sources: Expert Review Red
Mode of inheritance for gene: MITF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MITF were set to Tietz Syndrome (TIETZS), Waardenburg Syndrome Type 2A (WS2A); Waardenburg syndrome/ocular albinism, digenic,103470; Waardenburg Syndrome Type 2 with Ocular Albinism (WS2-OA)
Albinism or congenital nystagmus v0.2 LYST Ellen McDonagh gene: LYST was added
gene: LYST was added to Albinism or congenital nystagmus. Sources: Expert Review Green
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LYST were set to 8896560; 9215679; 20301751 - Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism (OCA), immunodeficiency, and a mild bleeding tendency.; 10482950
Phenotypes for gene: LYST were set to Chediak-Higashi syndrome; oculo-cutaneous albinism; optic neuropathy with progressive vision loss
Albinism or congenital nystagmus v0.2 LRMDA Ellen McDonagh gene: LRMDA was added
gene: LRMDA was added to Albinism or congenital nystagmus. Sources: Expert Review Green
Mode of inheritance for gene: LRMDA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRMDA were set to PMID: 26818737 - a novel homozygous variant in this gene is reported a patient within a screen of Iranian patients with nonsyndromic OCA or autosomal recessive ocular albinism; PMID: 27031267 - identification of a 1.77-Mb de novo interstitial deletion in 10q22.2q22.3 in a female patient with 2.5-year-old female patient with developmental delay, speech delay, congenital cleft palate, and bilateral hearing impairment. The deletion included 9 genes, including KAT6B, DUPD1, DUSP13, SAMD8, VDAC2, COMTD1, ZNF503, NCRNA00245, and C10orf11; 23395477
Phenotypes for gene: LRMDA were set to Albinism, oculocutaneous, type VII
Albinism or congenital nystagmus v0.2 HPS5 Ellen McDonagh gene: HPS5 was added
gene: HPS5 was added to Albinism or congenital nystagmus. Sources: Expert Review Green
Mode of inheritance for gene: HPS5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPS5 were set to 18182080; 28296950; 12548288; 27593200; 26785811
Phenotypes for gene: HPS5 were set to Hermansky-Pudlak syndrome 5
Albinism or congenital nystagmus v0.2 HPS4 Ellen McDonagh gene: HPS4 was added
gene: HPS4 was added to Albinism or congenital nystagmus. Sources: Expert Review Green
Mode of inheritance for gene: HPS4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPS4 were set to 11836498; 15108212
Phenotypes for gene: HPS4 were set to Hermansky-Pudlak syndrome 4
Albinism or congenital nystagmus v0.2 HPS3 Ellen McDonagh gene: HPS3 was added
gene: HPS3 was added to Albinism or congenital nystagmus. Sources: Expert Review Green
Mode of inheritance for gene: HPS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPS3 were set to 11455388; 11590544
Phenotypes for gene: HPS3 were set to Hermansky-Pudlak syndrome 3
Albinism or congenital nystagmus v0.2 HPS1 Ellen McDonagh gene: HPS1 was added
gene: HPS1 was added to Albinism or congenital nystagmus. Sources: Expert Review Green
Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPS1 were set to 9705234; 10971344; 9497254; 7573033
Phenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome 1
Albinism or congenital nystagmus v0.2 GPR143 Ellen McDonagh gene: GPR143 was added
gene: GPR143 was added to Albinism or congenital nystagmus. Sources: Expert Review Green
Mode of inheritance for gene: GPR143 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: GPR143 were set to 26160353; 21423867; 26061757; 21541274
Phenotypes for gene: GPR143 were set to Nystagmus 6, congenital, X-linked, 300814; Ocular albinism, type I; Ocular albinism, type I, Nettleship-Falls type, 300500
Albinism or congenital nystagmus v0.2 GNAI3 Ellen McDonagh gene: GNAI3 was added
gene: GNAI3 was added to Albinism or congenital nystagmus. Sources: Expert Review Red
Mode of inheritance for gene: GNAI3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GNAI3 were set to 27607449
Phenotypes for gene: GNAI3 were set to Auriculocondylar syndrome 1 602483; Ocular Albinism
Albinism or congenital nystagmus v0.2 FRMD7 Ellen McDonagh gene: FRMD7 was added
gene: FRMD7 was added to Albinism or congenital nystagmus. Sources: Expert Review Green
Mode of inheritance for gene: FRMD7 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: FRMD7 were set to 24688117; 17013395; 21303855; 17397053; 18431453; 17846367
Phenotypes for gene: FRMD7 were set to Nystagmus 1, Congenital, X-Linked; Infantile Nystagmus; Nystagmus, infantile periodic alternating, X-linked, 310700; Nystagmus 1, congenital, X-linked, 310700; (not relevant if inheritance through paternal line)
Albinism or congenital nystagmus v0.2 DGUOK Ellen McDonagh gene: DGUOK was added
gene: DGUOK was added to Albinism or congenital nystagmus. Sources: Expert Review Red
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DGUOK were set to 12210798; 12205643
Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3
Albinism or congenital nystagmus v0.2 CACNA1A Ellen McDonagh gene: CACNA1A was added
gene: CACNA1A was added to Albinism or congenital nystagmus. Sources: Expert Review Green
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1A were set to 19182766
Phenotypes for gene: CACNA1A were set to CACNA1A-Related Episodic Ataxia Type 2; Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia; Episodic Ataxia Type 2 (EA2) Episodic Ataxia, Nystagmus-Associated
Ocular coloboma v1.20 ALDH1A3 Ellen McDonagh Publications for gene: ALDH1A3 were set to 23591992,24859618
Sporadic aniridia v0.12 PAX6 Ellen McDonagh Source Radboud University Medical Center, Nijmegen was added to PAX6.
Source Illumina TruGenome Clinical Sequencing Services was added to PAX6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Sporadic aniridia v0.11 TRIM44 Ellen McDonagh Source Radboud University Medical Center, Nijmegen was added to TRIM44.
Sporadic aniridia v0.10 ELP4 Ellen McDonagh Source Radboud University Medical Center, Nijmegen was added to ELP4.
Sporadic aniridia v0.9 TRIM44 Ellen McDonagh Publications for gene: TRIM44 were set to
Sporadic aniridia v0.8 ELP4 Ellen McDonagh Publications for gene: ELP4 were set to
Sporadic aniridia v0.7 PAX6 Ellen McDonagh Classified gene: PAX6 as Green List (high evidence)
Sporadic aniridia v0.7 PAX6 Ellen McDonagh Added comment: Comment on list classification: Loss of function or missense variants reported in this gene as causing Aniridia in more than 3 families (see publications).
Sporadic aniridia v0.7 PAX6 Ellen McDonagh Gene: pax6 has been classified as Green List (High Evidence).
Sporadic aniridia v0.6 PAX6 Ellen McDonagh Publications for gene: PAX6 were set to 1302030; 8111379; 7951315
Sporadic aniridia v0.5 PAX6 Ellen McDonagh Publications for gene: PAX6 were set to
Sporadic aniridia v0.4 TRIM44 Ellen McDonagh gene: TRIM44 was added
gene: TRIM44 was added to Aniridia. Sources: Other
Mode of inheritance for gene: TRIM44 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TRIM44 were set to ?Aniridia 3
Sporadic aniridia v0.3 ELP4 Ellen McDonagh gene: ELP4 was added
gene: ELP4 was added to Aniridia. Sources: Other
Mode of inheritance for gene: ELP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ELP4 were set to ?Aniridia 2
Sporadic aniridia v0.2 PAX6 Ellen McDonagh gene: PAX6 was added
gene: PAX6 was added to Aniridia. Sources: UKGTN
Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PAX6 were set to Aniridia 106210
Ichthyosis and erythrokeratoderma v0.4 POMP Ellen McDonagh Tag promoter tag was added to gene: POMP.
Ichthyosis and erythrokeratoderma v0.4 SMARCAD1 Ellen McDonagh Tag watchlist tag was added to gene: SMARCAD1.
Ichthyosis and erythrokeratoderma v0.3 TRPV3 Ellen McDonagh gene: TRPV3 was added
gene: TRPV3 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: TRPV3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPV3 were set to 25285920
Phenotypes for gene: TRPV3 were set to Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques; ?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400; Olmsted syndrome, 614594
Mode of pathogenicity for gene: TRPV3 was set to Other - please provide details in the comments
Ichthyosis and erythrokeratoderma v0.3 TGM1 Ellen McDonagh gene: TGM1 was added
gene: TGM1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive 1, 242300
Ichthyosis and erythrokeratoderma v0.3 TAT Ellen McDonagh gene: TAT was added
gene: TAT was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TAT were set to palmoplantar hyperkeratosis; KERATOSIS PALMOPLANTARIS WITH CORNEAL DYSTROPHY; Tyrosinemia, type II, 276600
Ichthyosis and erythrokeratoderma v0.3 SULT2B1 Ellen McDonagh gene: SULT2B1 was added
gene: SULT2B1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: SULT2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SULT2B1 were set to 28575648
Phenotypes for gene: SULT2B1 were set to Ichthyosis, congenital, autosomal recessive 14 617571
Ichthyosis and erythrokeratoderma v0.3 STS Ellen McDonagh gene: STS was added
gene: STS was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: STS were set to Ichthyosis, X-linked, 308100
Ichthyosis and erythrokeratoderma v0.3 ST14 Ellen McDonagh gene: ST14 was added
gene: ST14 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST14 were set to Ichthyosis, congenital, autosomal recessive 11, with hypotrichosis, 602400
Ichthyosis and erythrokeratoderma v0.3 SNAP29 Ellen McDonagh gene: SNAP29 was added
gene: SNAP29 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNAP29 were set to 25958742; 21073448; 15968592
Phenotypes for gene: SNAP29 were set to CEDNIK syndrome; Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome; Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma, 609528
Ichthyosis and erythrokeratoderma v0.3 SMARCAD1 Ellen McDonagh gene: SMARCAD1 was added
gene: SMARCAD1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber
Mode of inheritance for gene: SMARCAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMARCAD1 were set to 24909267; 26932190; 24664640
Phenotypes for gene: SMARCAD1 were set to Basan syndrome, 129200; palmoplantar keratoderma
Ichthyosis and erythrokeratoderma v0.3 SLURP1 Ellen McDonagh gene: SLURP1 was added
gene: SLURP1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: SLURP1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SLURP1 were set to 16865292; 24738704; 14756676; 9887370; 25557416; 12483299; 24985918; 19692209; 17184264; 24604124; 16882192; 15026760; 11285253; 21690549; 23290002; 19120323
Phenotypes for gene: SLURP1 were set to keratosis palmoplantaris transgrediens; Diffuse palmoplantar keratoderma; palmoplantar keratoderma; Mal de Meleda (MDM); Meleda disease, 248300
Ichthyosis and erythrokeratoderma v0.3 SLC27A4 Ellen McDonagh gene: SLC27A4 was added
gene: SLC27A4 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: SLC27A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC27A4 were set to Ichthyosis prematurity syndrome, 608649
Ichthyosis and erythrokeratoderma v0.3 SERPINB7 Ellen McDonagh gene: SERPINB7 was added
gene: SERPINB7 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: SERPINB7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERPINB7 were set to 27666198; 26926003; 24207119; 25788444; 24514002; 24773080; 25940237; 26763456; 25029323; 28211129
Phenotypes for gene: SERPINB7 were set to palmoplantar keratoderma, recurrent tinea; Palmoplantar keratoderma, Nagashima type, 615598
Ichthyosis and erythrokeratoderma v0.3 SDR9C7 Ellen McDonagh gene: SDR9C7 was added
gene: SDR9C7 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDR9C7 were set to 28173123; 28369735
Phenotypes for gene: SDR9C7 were set to Ichthyosis, congenital, autosomal recessive 13 617574
Ichthyosis and erythrokeratoderma v0.3 SASH1 Ellen McDonagh gene: SASH1 was added
gene: SASH1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red
Mode of inheritance for gene: SASH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SASH1 were set to 25315659
Phenotypes for gene: SASH1 were set to Pigmentation defects, palmoplantar keratoderma and skin carcinoma
Ichthyosis and erythrokeratoderma v0.3 RSPO1 Ellen McDonagh gene: RSPO1 was added
gene: RSPO1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: RSPO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPO1 were set to palmoplantar keratoderma; Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644; Palmoplantar hyperkeratosis and true hermaphroditism, 610644
Ichthyosis and erythrokeratoderma v0.3 RHBDF2 Ellen McDonagh gene: RHBDF2 was added
gene: RHBDF2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: RHBDF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RHBDF2 were set to 22265016; 22638770
Phenotypes for gene: RHBDF2 were set to Howel-Evans syndrome; tylosis with oesophageal cancer; PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER; oral leukokeratosis; Focal keratoderma; Hyperkeratosis, diffuse palmoplantar (tylosis); tylosis with esophageal cancer, 148500; KERATOSIS PALMARIS ET PLANTARIS WITH ESOPHAGEAL CANCER
Mode of pathogenicity for gene: RHBDF2 was set to Other - please provide details in the comments
Ichthyosis and erythrokeratoderma v0.3 POMP Ellen McDonagh gene: POMP was added
gene: POMP was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red
Mode of inheritance for gene: POMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMP were set to 27503413; 20226437
Phenotypes for gene: POMP were set to Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952
Ichthyosis and erythrokeratoderma v0.3 PNPLA1 Ellen McDonagh gene: PNPLA1 was added
gene: PNPLA1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA1 were set to 24344921; 6691440; 26778108
Phenotypes for gene: PNPLA1 were set to Ichthyosis, congenital, autosomal recessive 10, 615024
Ichthyosis and erythrokeratoderma v0.3 NIPAL4 Ellen McDonagh gene: NIPAL4 was added
gene: NIPAL4 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NIPAL4 were set to Ichthyosis, congenital, autosomal recessive 6, 612281
Ichthyosis and erythrokeratoderma v0.3 MT-TS1 Ellen McDonagh gene: MT-TS1 was added
gene: MT-TS1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red
Mode of inheritance for gene gene: MT-TS1 was set to MITOCHONDRIAL
Publications for gene: MT-TS1 were set to 9450881
Phenotypes for gene: MT-TS1 were set to Keratoderma, Palmoplantar, with deafness; palmoplantar keratoderma with deafness
Ichthyosis and erythrokeratoderma v0.3 MBTPS2 Ellen McDonagh gene: MBTPS2 was added
gene: MBTPS2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red
Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MBTPS2 were set to 22931912; 24313295
Phenotypes for gene: MBTPS2 were set to X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted syndrome); ?Olmsted syndrome, X-linked, 300918; IFAP syndrome. 308205, along with pachyonychia, palmoplantar and periorificial keratoderma
Ichthyosis and erythrokeratoderma v0.3 LIPN Ellen McDonagh gene: LIPN was added
gene: LIPN was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red
Mode of inheritance for gene: LIPN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPN were set to 21439540
Phenotypes for gene: LIPN were set to Ichthyosis, congenital, autosomal recessive 8, 613943
Ichthyosis and erythrokeratoderma v0.3 LIPH Ellen McDonagh gene: LIPH was added
gene: LIPH was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red
Mode of inheritance for gene: LIPH was set to
Phenotypes for gene: LIPH were set to Woolly hair/hypotrichosis syndrome
Ichthyosis and erythrokeratoderma v0.3 KRT9 Ellen McDonagh gene: KRT9 was added
gene: KRT9 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: KRT9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT9 were set to 7511021; 12838553; 21410681; 7512862; 7532199
Phenotypes for gene: KRT9 were set to Palmoplantar Keratoderma, Epidermolytic; Diffuse keratoderma with knuckle pads; Diffuse keratoderma with digital mutilation; V rner type palmoplantar keratoderma; Diffuse keratoderma; Palmoplantar keratoderma, epidermolytic, 144200; Epidermolytic Palmoplantar Keratoderma (EPPK)
Ichthyosis and erythrokeratoderma v0.3 KRT6C Ellen McDonagh gene: KRT6C was added
gene: KRT6C was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: KRT6C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT6C were set to 19609311
Phenotypes for gene: KRT6C were set to Focal keratoderma; Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735; dystrophic nails
Mode of pathogenicity for gene: KRT6C was set to Other - please provide details in the comments
Ichthyosis and erythrokeratoderma v0.3 KRT6B Ellen McDonagh gene: KRT6B was added
gene: KRT6B was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: KRT6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT6B were set to 16250204; 9618173
Phenotypes for gene: KRT6B were set to pachyonychia congenita type 2 (PC-2); Pachyonychia congenita 4, 615728; PC4
Ichthyosis and erythrokeratoderma v0.3 KRT6A Ellen McDonagh gene: KRT6A was added
gene: KRT6A was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: KRT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT6A were set to 16250204; 7545493; 22098151
Phenotypes for gene: KRT6A were set to Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200; Pachyonychia congenital; Pachyonychia Congenita, Type 1
Ichthyosis and erythrokeratoderma v0.3 KRT17 Ellen McDonagh gene: KRT17 was added
gene: KRT17 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: KRT17 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: KRT17 were set to 15102078; 22336949; 9008238; 7539673; 19659471
Phenotypes for gene: KRT17 were set to Steatocystoma multiplex, 184500; Pachyonychia congenita, Jackson-Lawler type, 167210; Pachyonychia Congenita, Type 2
Ichthyosis and erythrokeratoderma v0.3 KRT16 Ellen McDonagh gene: KRT16 was added
gene: KRT16 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: KRT16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT16 were set to 21160496; 8595410; 21790523; 7539673
Phenotypes for gene: KRT16 were set to Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200; focal non-epidermolytic palmoplantar keratoderma (NEPPK); striate keratoderma (palmar); Palmoplantar keratoderma, nonepidermolytic, focal, 613000; Pachyonychia Congenita, Type 1; focal keratoderma (palmar); Focal keratoderma; FNEPPK1; Pachyonychia congenita (PC)
Ichthyosis and erythrokeratoderma v0.3 KRT14 Ellen McDonagh gene: KRT14 was added
gene: KRT14 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: KRT14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT14 were set to 9804355
Phenotypes for gene: KRT14 were set to Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Naegeli-Franceschetti-Jadassohn syndrome, 161000; palmoplantar keratoderma; Dermatopathia pigmentosa reticularis, 125595; Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR)
Ichthyosis and erythrokeratoderma v0.3 KRT10 Ellen McDonagh gene: KRT10 was added
gene: KRT10 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: KRT10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT10 were set to Epidermolytic hyperkeratosis (EHK), 113800; erythroderma, prominent scale, and palmoplantar keratoderma; ichthyosis with confetti, 609165; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602
Ichthyosis and erythrokeratoderma v0.3 KRT1 Ellen McDonagh gene: KRT1 was added
gene: KRT1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: KRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT1 were set to 12406346; 11286630; 7528239
Phenotypes for gene: KRT1 were set to Palmoplantar keratoderma, nonepidermolytic, 600962; Palmoplantar keratoderma, epidermolytic, 1; Ichthyosis histrix, Curth-Macklin type, 146590; Epidermolytic hyperkeratosis, 113800; Diffuse palmoplantar keratoderma; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602; triate keratoderma
Ichthyosis and erythrokeratoderma v0.3 KDSR Ellen McDonagh gene: KDSR was added
gene: KDSR was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: KDSR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KDSR were set to 28575652
Phenotypes for gene: KDSR were set to Erythrokeratodermia variabilis et progressiva 4, 617526
Ichthyosis and erythrokeratoderma v0.3 KANK2 Ellen McDonagh gene: KANK2 was added
gene: KANK2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red
Mode of inheritance for gene: KANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KANK2 were set to 24671081
Phenotypes for gene: KANK2 were set to PPKWH; Palmoplantar keratoderma and woolly hair, 616099
Ichthyosis and erythrokeratoderma v0.3 JUP Ellen McDonagh gene: JUP was added
gene: JUP was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: JUP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JUP were set to 20130592; 10902626; 21668431
Phenotypes for gene: JUP were set to WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES; PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR; palmoplantar keratoderma (PPK), keratoderma with woolly hair; Naxos disease, 601214; KERATOSIS PALMOPLANTARIS WITH ARRHYTHMOGENIC CARDIOMYOPATHY
Ichthyosis and erythrokeratoderma v0.3 ISCA-37417-Loss Ellen McDonagh Region: ISCA-37417-Loss was added
Region: ISCA-37417-Loss was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37417-Loss was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for Region: ISCA-37417-Loss were set to 308100; Ichthyosis, X-linked
Ichthyosis and erythrokeratoderma v0.3 GJB6 Ellen McDonagh gene: GJB6 was added
gene: GJB6 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: GJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GJB6 were set to 8845850; 11874494
Phenotypes for gene: GJB6 were set to Ectodermal dysplasia 2, Clouston type, 129500; Clouston syndrome; palmoplantar hyperkeratosis; ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT
Ichthyosis and erythrokeratoderma v0.3 GJB4 Ellen McDonagh gene: GJB4 was added
gene: GJB4 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: GJB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GJB4 were set to 22266302; 21950330; 26826093; 23037955
Phenotypes for gene: GJB4 were set to Erythrokeratodermia variabilis et progressiva 2, 617524
Ichthyosis and erythrokeratoderma v0.3 GJB3 Ellen McDonagh gene: GJB3 was added
gene: GJB3 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: GJB3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GJB3 were set to 12019212; 9843209; 21564177; 10594760
Phenotypes for gene: GJB3 were set to Erythrokeratoderma; deafness; Erythrokeratodermia variabilis et progressiva, 133200; peripheral neuropathy; Erythrokeratodermia Variabilis
Ichthyosis and erythrokeratoderma v0.3 GJB2 Ellen McDonagh gene: GJB2 was added
gene: GJB2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: GJB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GJB2 were set to Hystrix-like ichthyosis with deafness, 602540; Keratoderma, palmoplantar, with deafness, 148350; Deafness, autosomal recessive 1A, 220290; Deafness, autosomal dominant 3A, 601544; Keratitis-ichthyosis-deafness syndrome, 148210; Vohwinkel syndrome, 124500; Keratoderma with deafness; Bart-Pumphrey syndrome, 149200
Ichthyosis and erythrokeratoderma v0.3 GJA1 Ellen McDonagh gene: GJA1 was added
gene: GJA1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GJA1 were set to 25388818; 25964267; 25168385; 16891658; 17256797; 25398053
Phenotypes for gene: GJA1 were set to keratoderma, hypotrichosis and leukonychia; Palmoplantar keratoderma with congenital alopecia, 104100; Erythrokeratoderma; Erythrokeratodermia variabilis et progressiva 3, 617525; Oculodentodigital dysplasia (ODDD) with palmoplantar keratoderma; Palmoplantar keratoderma
Mode of pathogenicity for gene: GJA1 was set to Other - please provide details in the comments
Ichthyosis and erythrokeratoderma v0.3 FAM83G Ellen McDonagh gene: FAM83G was added
gene: FAM83G was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red
Mode of inheritance for gene: FAM83G was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM83G were set to Palmoplantar keratoderma with leukonychia and abundant curly hair
Ichthyosis and erythrokeratoderma v0.3 ENPP1 Ellen McDonagh gene: ENPP1 was added
gene: ENPP1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: ENPP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ENPP1 were set to 26617416; 24075184; 19380683
Phenotypes for gene: ENPP1 were set to Cole disease, 615522 (includes punctate palmoplantar keratoderma)
Ichthyosis and erythrokeratoderma v0.3 ELOVL4 Ellen McDonagh gene: ELOVL4 was added
gene: ELOVL4 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red
Mode of inheritance for gene: ELOVL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ELOVL4 were set to 24566826; 26010696
Phenotypes for gene: ELOVL4 were set to Spinocerebellar ataxia 34 133190
Ichthyosis and erythrokeratoderma v0.3 DSP Ellen McDonagh gene: DSP was added
gene: DSP was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: DSP were set to 22795705; 11841538; 16628197; 19924139; 11063735; 20940358; 26303123; 10594734; 20738328; 16175511; 25516398
Phenotypes for gene: DSP were set to Skin fragility-woolly hair syndrome; Keratosis palmoplantaris striata II, 612908; lethal acantholytic epidermolysis bullosa, 609638; Striate keratoderma with woolly hair and cardiomyopathy; Skin fragility-woolly hair syndrome, 607655; oligodontia or hypodontia; alopecia, follicular hyperkeratoses and keratoderma; diffuse keratoderma; Epidermolysis bullosa, lethal acantholytic; striate keratoderma; CARVAJAL SYNDROME; Arrhythmogenic right ventricular dysplasia 8, 607450; Keratosis palmoplantaris striata II; Dilated cardiomyopathy with woolly hair and keratoderma, 605676
Ichthyosis and erythrokeratoderma v0.3 DSG2 Ellen McDonagh gene: DSG2 was added
gene: DSG2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red
Mode of inheritance for gene: DSG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DSG2 were set to Arrhythmogenic right ventricular dysplasia 10 Cardiomyopathy, dilated, 1BB; Striate keratoderma with woolly hair
Ichthyosis and erythrokeratoderma v0.3 DSG1 Ellen McDonagh gene: DSG1 was added
gene: DSG1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: DSG1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DSG1 were set to 27534273
Phenotypes for gene: DSG1 were set to Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508; Keratosis palmoplantaris striata I, AD, 148700
Ichthyosis and erythrokeratoderma v0.3 DSC2 Ellen McDonagh gene: DSC2 was added
gene: DSC2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: DSC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSC2 were set to 18957847
Phenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular dysplasia 11, 610476; Striate keratoderma with woolly hair; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476
Ichthyosis and erythrokeratoderma v0.3 DES Ellen McDonagh gene: DES was added
gene: DES was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red
Mode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DES were set to Striate keratoderma with woolly hair; Cardiomyopathy, dilated, 1I
Ichthyosis and erythrokeratoderma v0.3 CYP4F22 Ellen McDonagh gene: CYP4F22 was added
gene: CYP4F22 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive 5, 604777
Ichthyosis and erythrokeratoderma v0.3 CERS3 Ellen McDonagh gene: CERS3 was added
gene: CERS3 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: CERS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CERS3 were set to 23549421; 23754960
Phenotypes for gene: CERS3 were set to Ichthyosis, congenital, autosomal recessive 9, 615023
Ichthyosis and erythrokeratoderma v0.3 CAST Ellen McDonagh gene: CAST was added
gene: CAST was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: CAST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAST were set to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 616295
Ichthyosis and erythrokeratoderma v0.3 CARD14 Ellen McDonagh gene: CARD14 was added
gene: CARD14 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: CARD14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CARD14 were set to familial pityriasis rubra pilaris; Pityriasis rubra pilaris, 173200; keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma
Ichthyosis and erythrokeratoderma v0.3 AQP5 Ellen McDonagh gene: AQP5 was added
gene: AQP5 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: AQP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AQP5 were set to 23830519; 27255181; 23867895
Phenotypes for gene: AQP5 were set to Palmoplantar keratoderma, Bothnian type, 600231
Ichthyosis and erythrokeratoderma v0.3 ALOXE3 Ellen McDonagh gene: ALOXE3 was added
gene: ALOXE3 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOXE3 were set to Most patients present with collodion membrane at birth and have palmoplantar keratoderma; Ichthyosis, congenital, autosomal recessive 3, 606545; Nonbullous congenital ichthyosiform erythroderma (NBCIE)
Ichthyosis and erythrokeratoderma v0.3 ALOX12B Ellen McDonagh gene: ALOX12B was added
gene: ALOX12B was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALOX12B were set to 11773004; 17139268; 19890349; 16116617
Phenotypes for gene: ALOX12B were set to Nonbullous congenital ichthyosiform erythroderma (NBCIE); Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma)
Ichthyosis and erythrokeratoderma v0.3 ABCA12 Ellen McDonagh gene: ABCA12 was added
gene: ABCA12 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA12 were set to Ichthyosis, autosomal recessive 4B (harlequin), 242500; Ichthyosis, congenital, autosomal recessive 4A, 601277
Ichthyosis and erythrokeratoderma v0.3 AAGAB Ellen McDonagh gene: AAGAB was added
gene: AAGAB was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green
Mode of inheritance for gene: AAGAB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AAGAB were set to 23563198; 24289292; 23000146; 23064416
Phenotypes for gene: AAGAB were set to Keratoderma, palmoplantar, punctate type IA, 148600; PPKP Buschke-Fischer-Brauer type; Punctate keratoderma and congenital dysplasia of the hip; Punctate keratoderma
Epidermolysis bullosa and congenital skin fragility v0.3 TRPV3 Ellen McDonagh gene: TRPV3 was added
gene: TRPV3 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Red
Mode of inheritance for gene: TRPV3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TRPV3 were set to superficial peeling of the skin; Olmsted syndrome, 614594
Epidermolysis bullosa and congenital skin fragility v0.3 TP63 Ellen McDonagh gene: TP63 was added
gene: TP63 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Red
Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TP63 were set to Hay-Wells syndrome, 106260; Red, cracking, peeling skin at birth
Epidermolysis bullosa and congenital skin fragility v0.3 TGM5 Ellen McDonagh gene: TGM5 was added
gene: TGM5 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: TGM5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TGM5 were set to 20164844; 22622422; 16380904; 22036214
Phenotypes for gene: TGM5 were set to Peeling skin syndrome 2, 609796; Acral peeling skin sydrome
Epidermolysis bullosa and congenital skin fragility v0.3 SERPINB8 Ellen McDonagh gene: SERPINB8 was added
gene: SERPINB8 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: SERPINB8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERPINB8 were set to 27476651
Phenotypes for gene: SERPINB8 were set to Peeling skin HP:0040189; erythema HP:0010783; palmoplantar hyperkeratosis HP:0007530; Peeling skin syndrome 5, 617115; Ichthyosis HP:0008064; skin erosions HP:0200041
Epidermolysis bullosa and congenital skin fragility v0.3 PLEC Ellen McDonagh gene: PLEC was added
gene: PLEC was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: PLEC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PLEC were set to Epidermolysis Bullosa with Muscular Dystrophy; Epidermolysis bullosa simplex, Ogna type (AD), 131950; Epidermolysis Bullosa Simplex, Ogna Type; Muscular dystrophy with epidermolysis bullosa simplex (AR), 226670; Epidermolysis bullosa simplex with pyloric atresia; Epidermolysis bullosa simplex with pyloric atresia (AR), 612138; Epidermolysis bullosa simplex including Ogna variant; Epidermolysis Bullosa Simplex With Muscular Dystrophy; Epidermolysis Bullosa Simplex With Pyloric Atresia
Epidermolysis bullosa and congenital skin fragility v0.3 PKP1 Ellen McDonagh gene: PKP1 was added
gene: PKP1 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: PKP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKP1 were set to 19945625; 25565931; 28182260; 26288439; 24073657
Phenotypes for gene: PKP1 were set to Ectodermal dysplasia/skin fragility syndrome, 604536; McGrath Syndrome; Ectodermal dysplasia-skin fragility syndrome, but classified as Epidermolysis bullosa
Epidermolysis bullosa and congenital skin fragility v0.3 MMP1 Ellen McDonagh gene: MMP1 was added
gene: MMP1 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Red
Mode of inheritance for gene: MMP1 was set to
Phenotypes for gene: MMP1 were set to {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600; COPD, rate of decline of lung function in, 606963
Epidermolysis bullosa and congenital skin fragility v0.3 LAMC2 Ellen McDonagh gene: LAMC2 was added
gene: LAMC2 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: LAMC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMC2 were set to 20336083; 11564184; 8012393; 16473856; 10951251; 11810295; 11907499; 8012394
Phenotypes for gene: LAMC2 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Junctional Epidermolysis Bullosa; Severe generalised junctional Epidermolysis bullosa (occasionally intermediate)
Epidermolysis bullosa and congenital skin fragility v0.3 LAMB3 Ellen McDonagh gene: LAMB3 was added
gene: LAMB3 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: LAMB3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMB3 were set to 7706760; 7698759; 8824879; 9205497; 9856855
Phenotypes for gene: LAMB3 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Junctional Epidermolysis Bullosa; Severe generalised junctional Epidermolysis bullosa (occasionally intermediate)
Epidermolysis bullosa and congenital skin fragility v0.3 LAMA3 Ellen McDonagh gene: LAMA3 was added
gene: LAMA3 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: LAMA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMA3 were set to 8586427; 8618022; 20301304; 12915477; 11810295; 8530087
Phenotypes for gene: LAMA3 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700; Shabbir syndrome; Epidermolysis bullosa, junctional, non-Herlitz type; Laryngo-onhycho-cutaneous syndrome associated with LAMA3A isoform; Severe generalised junctional Epidermolysis bullosa (occasionally intermediate); Junctional Epidermolysis Bullosa; Epidermolysis bullosa, generalized atrophic benign, 226650; Laryngoonychocutaneous syndrome, 245660
Epidermolysis bullosa and congenital skin fragility v0.3 KRT5 Ellen McDonagh gene: KRT5 was added
gene: KRT5 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: KRT5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KRT5 were set to Epidermolysis Bullosa Simplex, Dowling-Meara Type; Epidermolysis Bullosa Simplex; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis Bullosa Simplex, Generalized; Epidermolysis bullosa simplex, Koebner type, 131900; Epidermolysis bullosa simplex with mottled pigmentation, 131960; Epidermolysis Bullosa Simplex, Localized; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800
Epidermolysis bullosa and congenital skin fragility v0.3 KRT2 Ellen McDonagh gene: KRT2 was added
gene: KRT2 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Red
Mode of inheritance for gene: KRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KRT2 were set to Ichthyosis bullosa of Siemens, 146800; blistering, superficial peeling of the skin, and localized lichenified hyperkeratosis
Epidermolysis bullosa and congenital skin fragility v0.3 KRT14 Ellen McDonagh gene: KRT14 was added
gene: KRT14 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: KRT14 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KRT14 were set to 7506606; 7526933; 12485428; 7525408; 10733662; 16960809; 1720261; 7682883; 7561171; 1717157; 16098032
Phenotypes for gene: KRT14 were set to Epidermolysis bullosa simplex, Weber-Cockayne type (AD), 131800; Dermatopathia pigmentosa reticularis (AD), 125595; Naegeli-Franceschetti-Jadassohn syndrome (AD), 161000; Epidermolysis bullosa simplex, Koebner type (AD), 131900; Epidermolysis bullosa simplex, Dowling-Meara type (AD), 131760; Epidermolysis Bullosa Simplex, Generalized; Epidermolysis bullosa simplex, recessive 1 (AR), 601001; Epidermolysis Bullosa Simplex, Localized
Epidermolysis bullosa and congenital skin fragility v0.3 KRT10 Ellen McDonagh gene: KRT10 was added
gene: KRT10 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Red
Mode of inheritance for gene: KRT10 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: KRT10 were set to EHK; Epidermolytic hyperkeratosis, 113800
Epidermolysis bullosa and congenital skin fragility v0.3 KRT1 Ellen McDonagh gene: KRT1 was added
gene: KRT1 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Red
Mode of inheritance for gene: KRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KRT1 were set to EHK; Epidermolytic hyperkeratosis, 113800; Islands of superficial peeling on the skin of the trunk and the extensor surface of the legs
Epidermolysis bullosa and congenital skin fragility v0.3 KLHL24 Ellen McDonagh gene: KLHL24 was added
gene: KLHL24 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: KLHL24 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLHL24 were set to 99(6):1395-1404. J Invest Dermatol. 2017 Jan 19. pii: S0022-202X(17)30032-5; 48(12):1508-1516. Am J Hum Genet. 2016 Dec 1; Nat Genet. 2016 Dec
Phenotypes for gene: KLHL24 were set to Epidermolysis bullosa simplex (autosomal dominant)
Mode of pathogenicity for gene: KLHL24 was set to Other - please provide details in the comments
Epidermolysis bullosa and congenital skin fragility v0.3 JUP Ellen McDonagh gene: JUP was added
gene: JUP was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: JUP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JUP were set to 20130592; 19067702; 10902626; 21668431
Phenotypes for gene: JUP were set to Severe generalised Epidermolysis bullosa simplex; Naxos disease, 601214
Epidermolysis bullosa and congenital skin fragility v0.3 ITGB4 Ellen McDonagh gene: ITGB4 was added
gene: ITGB4 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGB4 were set to 18348258; 10792571; 7545057; 10484780
Phenotypes for gene: ITGB4 were set to Generalised intermediate junctional Epidermolysis bullosa; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Epidermolysis bullosa, junctional, with pyloric atresia, 226730; Epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa and congenital skin fragility v0.3 ITGA6 Ellen McDonagh gene: ITGA6 was added
gene: ITGA6 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGA6 were set to 27186702; 9185503; 26739954; 26817667
Phenotypes for gene: ITGA6 were set to Epidermolysis bullosa with pyloric atresia; Epidermolysis Bullosa with Pyloric Atresia; Epidermolysis bullosa, junctional, with pyloric stenosis, 226730; generalised intermediate junctional Epidermolysis bullosa
Epidermolysis bullosa and congenital skin fragility v0.3 ITGA3 Ellen McDonagh gene: ITGA3 was added
gene: ITGA3 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGA3 were set to 26854491; 23114595; 27717396; 22512483; 26719633
Phenotypes for gene: ITGA3 were set to Epidermolysis bullosa, nonspecific, autosomal recessive, 615028; Junctional Epidermolysis bullosa; Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa syndrome
Epidermolysis bullosa and congenital skin fragility v0.3 FERMT1 Ellen McDonagh gene: FERMT1 was added
gene: FERMT1 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: FERMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FERMT1 were set to 12789646; 27489438; 27862150; 12668616
Phenotypes for gene: FERMT1 were set to Kindler syndrome (a separate category of Epidermolysis bullosa); Kindler syndrome,173650
Epidermolysis bullosa and congenital skin fragility v0.3 EXPH5 Ellen McDonagh gene: EXPH5 was added
gene: EXPH5 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: EXPH5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXPH5 were set to 23176819; 27730671; 26719633
Phenotypes for gene: EXPH5 were set to Epidermolysis bullosa, nonspecific, autosomal recessive, 615028; Epidermolysis bullosa simplex
Epidermolysis bullosa and congenital skin fragility v0.3 EDA Ellen McDonagh gene: EDA was added
gene: EDA was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Red
Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EDA were set to Skin peeling/scaling (newborn); Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100
Epidermolysis bullosa and congenital skin fragility v0.3 DST Ellen McDonagh gene: DST was added
gene: DST was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: DST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DST were set to 27669234; 26719633; 25059916; 22113475; 20164846
Phenotypes for gene: DST were set to Epidermolysis bullosa simplex; Epidermolysis bullosa simplex, autosomal recessive 2, 615425
Epidermolysis bullosa and congenital skin fragility v0.3 DSP Ellen McDonagh gene: DSP was added
gene: DSP was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: DSP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DSP were set to Epidermolysis bullosa, lethal acantholytic, 609638; Severe generalised Epidermolysis bullosa simplex; Skin fragility-woolly hair syndrome,607655; Lethal acantholytic epidermolysis bullosa
Epidermolysis bullosa and congenital skin fragility v0.3 CSTA Ellen McDonagh gene: CSTA was added
gene: CSTA was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSTA were set to 23534700; 26684698; 25400170; PMID: 21944047
Phenotypes for gene: CSTA were set to Hyperhidrosis HP:0000975; Peeling skin HP:0040189; OMIM:607936; erythema HP:0010783; Peeling skin syndrome 4, 607936; palmoplantar hyperkeratosis HP:0007530; Hyperkeratosis HP:0000962; Erythroderma HP:0001019; Lichenification HP:0100725; Ichthyosis HP:0008064; skin erosions HP:0200041
Epidermolysis bullosa and congenital skin fragility v0.3 COL7A1 Ellen McDonagh gene: COL7A1 was added
gene: COL7A1 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: COL7A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL7A1 were set to 11781296; 24599399; 20055845; 19197535; 23616197
Phenotypes for gene: COL7A1 were set to Epidermolysis bullosa dystrophica (AD), 131750; Epidermolysis bullosa, pretibial (AR,AD), 131850; Epidermolysis bullosa dystrophica (AR), 226600; EBD, Bart type (AD), 132000; Dystrophic Epidermolysis Bullosa; Transient bullous of the newborn (AR,AD), 131705; EBD inversa (AR), 226600
Epidermolysis bullosa and congenital skin fragility v0.3 COL17A1 Ellen McDonagh gene: COL17A1 was added
gene: COL17A1 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: COL17A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL17A1 were set to 7550320; 9012408; 10577906; 10951237
Phenotypes for gene: COL17A1 were set to Generalised intermediate junctional Epidermolysis bullosa; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Junctional Epidermolysis Bullosa
Epidermolysis bullosa and congenital skin fragility v0.3 CHST8 Ellen McDonagh gene: CHST8 was added
gene: CHST8 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Red
Mode of inheritance for gene: CHST8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHST8 were set to PMID: 22289416
Phenotypes for gene: CHST8 were set to Ichthyosis HP:0008064; Peeling skin HP:0040189; OMIM:#616265; ?Peeling skin syndrome 3, 616265
Epidermolysis bullosa and congenital skin fragility v0.3 CDSN Ellen McDonagh gene: CDSN was added
gene: CDSN was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: CDSN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDSN were set to 21191406; 22146835; 23957618; PMID: 20691404
Phenotypes for gene: CDSN were set to OMIM:#270300; Peeling skin HP:0040189; erythema HP:0010783; Allergy HP:0012393; Peeling skin syndrome 1, 270300; Hyperkeratosis HP:0000962.; Generalised erythroderma HP:0001019; PSS1; Increased IgE level HP:0003212; Pruritus HP:0000989
Epidermolysis bullosa and congenital skin fragility v0.3 CD151 Ellen McDonagh gene: CD151 was added
gene: CD151 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Red
Mode of inheritance for gene: CD151 was set to
Phenotypes for gene: CD151 were set to [Blood group, Raph], 179620; Nephropathy with pretibial epidermolysis bullosa and deafness, 609057
Epidermolysis bullosa and congenital skin fragility v0.3 CAST Ellen McDonagh gene: CAST was added
gene: CAST was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: CAST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAST were set to PMID: 25683118
Phenotypes for gene: CAST were set to Peeling skin HP:0040189; Leukonychia HP:0001820; OMIM:#616295; Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295; Punctate palmoplantar hyperkeratosis HP:0007530; Knuckle pads.; Cheilitis HP:0100825
Epidermolysis bullosa and congenital skin fragility v0.3 CARD14 Ellen McDonagh gene: CARD14 was added
gene: CARD14 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Red
Mode of inheritance for gene: CARD14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CARD14 were set to Pityriasis rubra pilaris, 173200; PRP; thick scales on the scalp and areas of superficial peeling on the face, palms, soles, and genital region
Ectodermal dysplasia v0.5 KRT74 Ellen McDonagh Added comment: Comment on mode of inheritance: This gene is Green on the Non-syndromic hypotrichosis panel (version 1.1, code 189) with a monoallelic mode of inheritance for Hypotrichosis. It has a Red rating with a biallelic mode of inheritance on the Ectodermal dysplasia without a known gene mutation panel (version 1.15, code 136), for Ectodermal dysplasia 7 due to one family report. Therefore for the Green status, a monoallelic mode of inheritance is given here.
Ectodermal dysplasia v0.5 KRT74 Ellen McDonagh Mode of inheritance for gene: KRT74 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ectodermal dysplasia v0.3 WNT10A Ellen McDonagh gene: WNT10A was added
gene: WNT10A was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: WNT10A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT10A were set to Schopf-Schulz-Passarge syndrome 224750; Odontoonychodermal dysplasia 257980
Ectodermal dysplasia v0.3 WDR35 Ellen McDonagh gene: WDR35 was added
gene: WDR35 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR35 were set to Short rib-polydactyly syndrome, type V, 614091; Cranioectodermal dysplasia 2, 613610; Cranioectodermal Dysplasia
Ectodermal dysplasia v0.3 WDR19 Ellen McDonagh gene: WDR19 was added
gene: WDR19 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR19 were set to Cranioectodermal dysplasia 4, 614378; Cranioectodermal Dysplasia; Asphyxiating thoracic dystrophy 5, 614376; Nephronophthisis 13, 614377
Ectodermal dysplasia v0.3 TSPYL2 Ellen McDonagh gene: TSPYL2 was added
gene: TSPYL2 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: TSPYL2 was set to Unknown
Phenotypes for gene: TSPYL2 were set to discoid lupus erythematosus
Ectodermal dysplasia v0.3 TP63 Ellen McDonagh gene: TP63 was added
gene: TP63 was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TP63 were set to Limb-mammary syndrome, 603543; Rapp-Hodgkin Syndrome; ADULT syndrome, 103285; Orofac; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292; Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate; Orofacial cleft 8, 129400; Hay-Wells syndrome, 106260; ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3; Split-Hand/foot Malformation 4; Split-hand/foot malformation 4, 605289; ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE; Rapp-Hodgkin syndrome, 129400; Limb-Mammary Syndrome; ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE; Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/palate Syndrome 3; Adult Syndrome
Ectodermal dysplasia v0.3 TGM1 Ellen McDonagh gene: TGM1 was added
gene: TGM1 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TGM1 were set to Some affected persons exhibit scarring alopecia; Lamellar ichthyosis; Ichthyosis, congenital, autosomal recessive 1, 242300
Ectodermal dysplasia v0.3 ST14 Ellen McDonagh gene: ST14 was added
gene: ST14 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST14 were set to Ichthyosis, congenital, autosomal recessive 11, 602400; Some affected persons exhibit scarring alopecia
Ectodermal dysplasia v0.3 SNRPE Ellen McDonagh gene: SNRPE was added
gene: SNRPE was added to Ectodermal dysplasia. Sources: Expert Review Amber
Mode of inheritance for gene: SNRPE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SNRPE were set to 23246290
Phenotypes for gene: SNRPE were set to Hypotrichosis 11, 615059; HYPT11
Ectodermal dysplasia v0.3 SDR9C7 Ellen McDonagh gene: SDR9C7 was added
gene: SDR9C7 was added to Ectodermal dysplasia. Sources: Expert Review Amber
Mode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDR9C7 were set to autosomal recessive congenital ichthyosis (ARCI) type 7 (includes scarring alopecia)
Ectodermal dysplasia v0.3 RPL21 Ellen McDonagh gene: RPL21 was added
gene: RPL21 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: RPL21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL21 were set to 21412954
Phenotypes for gene: RPL21 were set to HYPT12; Hypotrichosis 12, 615885; Hypotrichosis simplex (HS); Hereditary hypotrichosis simplex (HHS)
Ectodermal dysplasia v0.3 RMRP Ellen McDonagh gene: RMRP was added
gene: RMRP was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMRP were set to Cartilage-hair hypoplasia 250250
Ectodermal dysplasia v0.3 PPARG Ellen McDonagh gene: PPARG was added
gene: PPARG was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: PPARG was set to Unknown
Publications for gene: PPARG were set to 19369934; 19052558
Phenotypes for gene: PPARG were set to lichen planopilaris; LPP; PCA; primary cicatricial alopecia; scarring alopecia
Ectodermal dysplasia v0.3 PORCN Ellen McDonagh gene: PORCN was added
gene: PORCN was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: PORCN were set to 17546031; 19309688; 8325042; 17546030
Phenotypes for gene: PORCN were set to Focal dermal hypoplasia 305600
Ectodermal dysplasia v0.3 PNPLA1 Ellen McDonagh gene: PNPLA1 was added
gene: PNPLA1 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA1 were set to Ichthyosis, congenital, autosomal recessive 10, 615024; Some affected persons exhibit scarring alopecia
Ectodermal dysplasia v0.3 PLEC Ellen McDonagh gene: PLEC was added
gene: PLEC was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: PLEC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PLEC were set to 20301336
Phenotypes for gene: PLEC were set to PLEC-related Epidermolysis Bullosa; Epidermolysis bullosa simplex, Ogna type, 131950; scarring alopecia; Epidermolysis bullosa simplex with muscular dystrophy, 226670; Epidermolysis bullosa simplex with pyloric atresia, 612138
Ectodermal dysplasia v0.3 PKP1 Ellen McDonagh gene: PKP1 was added
gene: PKP1 was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: PKP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKP1 were set to 25565931; 22309335; 24073657
Phenotypes for gene: PKP1 were set to Ectodermal dysplasia/skin fragility syndrome, 604536; Ectodermal Dysplasia/Skin Fragility Syndrome
Ectodermal dysplasia v0.3 NIPAL4 Ellen McDonagh gene: NIPAL4 was added
gene: NIPAL4 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NIPAL4 were set to Some affected persons exhibit scarring alopecia; Lamellar ichthyosis; Ichthyosis, congenital, autosomal recessive 6, 612281
Ectodermal dysplasia v0.3 NFKBIA Ellen McDonagh gene: NFKBIA was added
gene: NFKBIA was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: NFKBIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFKBIA were set to 17931563; 23864385; 18412279; 15337789; 23239958
Phenotypes for gene: NFKBIA were set to Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency 612132
Ectodermal dysplasia v0.3 NFKB2 Ellen McDonagh gene: NFKB2 was added
gene: NFKB2 was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: NFKB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NFKB2 were set to Immunodeficiency, common variable, 10 615577
Ectodermal dysplasia v0.3 NECTIN4 Ellen McDonagh gene: NECTIN4 was added
gene: NECTIN4 was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: NECTIN4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NECTIN4 were set to Ectodermal dysplasia-syndactyly syndrome 1 613573
Ectodermal dysplasia v0.3 NECTIN1 Ellen McDonagh gene: NECTIN1 was added
gene: NECTIN1 was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NECTIN1 were set to 0932188; 11559849
Phenotypes for gene: NECTIN1 were set to Cleft lip/palate-ectodermal dysplasia syndrome, 225060; Orofacial cleft 7, 225060
Ectodermal dysplasia v0.3 MSX1 Ellen McDonagh gene: MSX1 was added
gene: MSX1 was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: MSX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MSX1 were set to 24031111; 11369996
Phenotypes for gene: MSX1 were set to Ectodermal dysplasia 3, Witkop type 189500
Ectodermal dysplasia v0.3 MBTPS2 Ellen McDonagh gene: MBTPS2 was added
gene: MBTPS2 was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MBTPS2 were set to 22816986; 20672378; 23316014
Phenotypes for gene: MBTPS2 were set to scarring alopecia; KFSDX; Keratosis follicularis spinulosa decalvans, X-linked, 208800 (includes progressive cicatricial alopecia of the scalp)
Ectodermal dysplasia v0.3 LPAR6 Ellen McDonagh gene: LPAR6 was added
gene: LPAR6 was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: LPAR6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LPAR6 were set to 21426374; 21070332; 18461368
Phenotypes for gene: LPAR6 were set to Hypotrichosis 8; Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150; HYPT8; localized autosomal recessive hypotrichosis-3 (LAH3); Autosomal recessive hypotrichosis; Hereditary hypotrichosis simplex (HHS); Hypotrichosis simplex (HS); Hypotrichosis 8, 278150
Ectodermal dysplasia v0.3 LIPN Ellen McDonagh gene: LIPN was added
gene: LIPN was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: LIPN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPN were set to Some affected persons exhibit scarring alopecia; Lamellar ichthyosis; Ichthyosis, congenital, autosomal recessive 8, 613943
Ectodermal dysplasia v0.3 LIPH Ellen McDonagh gene: LIPH was added
gene: LIPH was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: LIPH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPH were set to Hypotrichosis 7, 604379; HYPT7; localized autosomal recessive hypotrichosis-2 (LAH2); Autosomal recessive hypotrichosis; Hereditary hypotrichosis simplex (HHS); Hypotrichosis simplex (HS); Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379
Ectodermal dysplasia v0.3 KRT85 Ellen McDonagh gene: KRT85 was added
gene: KRT85 was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: KRT85 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KRT85 were set to 19865094 (2 different homozygous variants reported in two consanguineous Pakistani families - one variant was the same as identified in PMID:16525032).; 16525032 (a homozygous variant identified in a large kindred of Pakistani origin)
Phenotypes for gene: KRT85 were set to Ectodermal dysplasia, pure hair and nail type; Ectodermal dysplasia 4, hair/nail type, 602032
Ectodermal dysplasia v0.3 KRT74 Ellen McDonagh gene: KRT74 was added
gene: KRT74 was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: KRT74 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KRT74 were set to 21188418; 24714551
Phenotypes for gene: KRT74 were set to Pure hair and nail ectodermal dysplasia (PHNED) Ectodermal dysplasia 7, hair/nail type 614929; hypotrichosis simplex of the scalp; Hypotrichosis 3, 613981; HYPT3
Ectodermal dysplasia v0.3 KRT71 Ellen McDonagh gene: KRT71 was added
gene: KRT71 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: KRT71 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT71 were set to 22592156
Phenotypes for gene: KRT71 were set to hypotrichosis; ?Hypotrichosis 13, 615896; HYPT13; woolly hair
Ectodermal dysplasia v0.3 KRT14 Ellen McDonagh gene: KRT14 was added
gene: KRT14 was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: KRT14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT14 were set to 16960809
Phenotypes for gene: KRT14 were set to Naegeli-Franceschetti-Jadassohn syndrome 161000
Ectodermal dysplasia v0.3 KREMEN1 Ellen McDonagh gene: KREMEN1 was added
gene: KREMEN1 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: KREMEN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KREMEN1 were set to 27049303
Phenotypes for gene: KREMEN1 were set to Ectodermal dysplasia 13, hair/tooth type, 617392
Ectodermal dysplasia v0.3 ITGB4 Ellen McDonagh gene: ITGB4 was added
gene: ITGB4 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGB4 were set to 20301336
Phenotypes for gene: ITGB4 were set to Epidermolysis Bullosa with Pyloric Atresia; Epidermolysis bullosa, junctional, with pyloric atresia, 226730; EB-PA; scarring alopecia
Ectodermal dysplasia v0.3 ITGA6 Ellen McDonagh gene: ITGA6 was added
gene: ITGA6 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGA6 were set to 20301336
Phenotypes for gene: ITGA6 were set to Epidermolysis Bullosa with Pyloric Atresia; EB-PA; Epidermolysis bullosa, junctional, with pyloric stenosis, 226730; scarring alopecia
Ectodermal dysplasia v0.3 IKBKG Ellen McDonagh gene: IKBKG was added
gene: IKBKG was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IKBKG were set to Ectodermal Dysplasia, Hypohidrotic, With Immune Deficiency; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301; {Atypical mycobacteriosis, familial}, 300636:Invasive pneumococcal disease, recurrent isolated, 2, 300640; Immunodeficiency, isolated, 300584; Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291; Incontinentia pigmenti, type II, 308300
Ectodermal dysplasia v0.3 IFT43 Ellen McDonagh gene: IFT43 was added
gene: IFT43 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT43 were set to Cranioectodermal dysplasia 3, 614099; Cranioectodermal Dysplasia
Ectodermal dysplasia v0.3 IFT122 Ellen McDonagh gene: IFT122 was added
gene: IFT122 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT122 were set to Cranioectodermal dysplasia 1, 218330; Cranioectodermal Dysplasia
Ectodermal dysplasia v0.3 HR Ellen McDonagh gene: HR was added
gene: HR was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: HR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HR were set to HYPT4; Marie Unna hereditary hypotrichosis 1 (MUHH1); Marie Unna hereditary hypotrichosis (MUHH); Hypotrichosis 4, 146550
Mode of pathogenicity for gene: HR was set to Other - please provide details in the comments
Ectodermal dysplasia v0.3 HOXC13 Ellen McDonagh gene: HOXC13 was added
gene: HOXC13 was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: HOXC13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HOXC13 were set to Ectodermal dysplasia 9, hair/nail type, 614931
Ectodermal dysplasia v0.3 HLA-DRA Ellen McDonagh gene: HLA-DRA was added
gene: HLA-DRA was added to Ectodermal dysplasia. Sources: Expert Review Amber
Mode of inheritance for gene: HLA-DRA was set to Unknown
Phenotypes for gene: HLA-DRA were set to lichen planopilaris; progressive cicatricial (scarring) alopecia; Graham Little syndrome; Graham Little-Piccardi-Lassueur syndrome
Ectodermal dysplasia v0.3 GJB6 Ellen McDonagh gene: GJB6 was added
gene: GJB6 was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: GJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GJB6 were set to 11017065; 23981984; 25575739; 25808784; 27137747
Phenotypes for gene: GJB6 were set to Ectodermal dysplasia 2, Clouston type, 129500; Clouston syndrome; Hidrotic Ectodermal Dysplasia
Ectodermal dysplasia v0.3 GJB2 Ellen McDonagh Added phenotypes Hystrix-like ichthyosis with deafness, 602540; clouston syndrome; Scarring alopecia; HID syndrome for gene: GJB2
Ectodermal dysplasia v0.3 GJB2 Ellen McDonagh gene: GJB2 was added
gene: GJB2 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: GJB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GJB2 were set to 2681028; 25575739; 25808784; 15757815
Phenotypes for gene: GJB2 were set to Hystrix-like ichthyosis with deafness, 602540; clouston syndrome; Scarring alopecia; HID syndrome
Ectodermal dysplasia v0.3 EDARADD Ellen McDonagh gene: EDARADD was added
gene: EDARADD was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: EDARADD was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: EDARADD were set to 20477971; 21626677; 26440664; 22013926 (rat model); 26991760; 20222921; 25206167 (review)
Phenotypes for gene: EDARADD were set to Hypohidrotic Ectodermal Dysplasia, Recessive; Autosomal Dominant and Recessive Hypohidrotic Ectodermal Dysplasia; Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940; Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941; Hypohidrotic ectodermal dysplasia; Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, 614940
Ectodermal dysplasia v0.3 EDAR Ellen McDonagh gene: EDAR was added
gene: EDAR was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: EDAR was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: EDAR were set to Hypohidrotic Ectodermal Dysplasia, Dominant; [Hair morphology 1, hair thickness], 612630; Autosomal Dominant and Recessive Hypohidrotic Ectodermal Dysplasia; [Hair morphology 1, hair thickness], 612630 -3; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490
Ectodermal dysplasia v0.3 EDA Ellen McDonagh gene: EDA was added
gene: EDA was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EDA were set to Ectodermal dysplasia 1 hypohidrotic X-linked; Tooth agenesis, selective, X-linked 1, 313500; Hypohidrotic Ectodermal Dysplasia; Ectodermal Dysplasia 1, Hypohidrotic, X-Linked; Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100
Ectodermal dysplasia v0.3 DSP Ellen McDonagh gene: DSP was added
gene: DSP was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: DSP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DSP were set to Ectodermal Dysplasia/Skin Fragility Syndrome
Ectodermal dysplasia v0.3 DSG4 Ellen McDonagh gene: DSG4 was added
gene: DSG4 was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: DSG4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSG4 were set to 15304105
Phenotypes for gene: DSG4 were set to HYPT6; localized autosomal recessive hypotrichosis-1 (LAH1); Hypotrichosis with broken hairs and follicular hyperkeratosis (variable severity and extent); Autosomal recessive hypotrichosis; Hereditary hypotrichosis simplex (HHS); Localized AR Hypotrichosis; localized autosomal recessive hypotrichosis; Hypotrichosis 6, 607903; Hypotrichosis simplex (HS)
Ectodermal dysplasia v0.3 DSC3 Ellen McDonagh gene: DSC3 was added
gene: DSC3 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: DSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSC3 were set to 19765682
Phenotypes for gene: DSC3 were set to hypotrichosis and recurrent skin vesicles disorder, 613102; HRSV; ?Hypotrichosis and recurrent skin vesicles, 613102
Ectodermal dysplasia v0.3 CYP4F22 Ellen McDonagh gene: CYP4F22 was added
gene: CYP4F22 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP4F22 were set to Some affected persons exhibit scarring alopecia; Lamellar ichthyosis; Ichthyosis, congenital, autosomal recessive 5, 604777
Ectodermal dysplasia v0.3 CYBB Ellen McDonagh gene: CYBB was added
gene: CYBB was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: CYBB was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: CYBB were set to CGD; Chronic granulomatous disease, X-linked, 306400; discoid lupus erythematosus
Ectodermal dysplasia v0.3 CLDN1 Ellen McDonagh gene: CLDN1 was added
gene: CLDN1 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN1 were set to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626; scarring alopecia
Ectodermal dysplasia v0.3 CERS3 Ellen McDonagh gene: CERS3 was added
gene: CERS3 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: CERS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CERS3 were set to Some affected persons exhibit scarring alopecia; Ichthyosis, congenital, autosomal recessive 9, 615023
Ectodermal dysplasia v0.3 CDSN Ellen McDonagh gene: CDSN was added
gene: CDSN was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: CDSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDSN were set to 23746069; 12754508; 22875505
Phenotypes for gene: CDSN were set to hypotrichosis simplex of the scalp; HYPT2; Hypotrichosis 2, 146520
Ectodermal dysplasia v0.3 CDH3 Ellen McDonagh gene: CDH3 was added
gene: CDH3 was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDH3 were set to 22140374
Phenotypes for gene: CDH3 were set to Hypotrichosis, congenital, with juvenile macular dystrophy, 601553; Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280
Ectodermal dysplasia v0.3 C5 Ellen McDonagh gene: C5 was added
gene: C5 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: C5 was set to
Publications for gene: C5 were set to 1999552
Phenotypes for gene: C5 were set to discoid lupus erythematosus
Ectodermal dysplasia v0.3 C2 Ellen McDonagh gene: C2 was added
gene: C2 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: C2 was set to
Publications for gene: C2 were set to 6902670
Phenotypes for gene: C2 were set to discoid (cutaneous) lupus; discoid lupus erythematosus
Ectodermal dysplasia v0.3 APCDD1 Ellen McDonagh gene: APCDD1 was added
gene: APCDD1 was added to Ectodermal dysplasia. Sources: Expert Review Green
Mode of inheritance for gene: APCDD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APCDD1 were set to 20393562; 22512811
Phenotypes for gene: APCDD1 were set to Hypotrichosis 1; non-syndromic hereditary hypotrichosis; Hypotrichosis 1, 605389; Hypotrichosis simplex (HS); Hereditary hypotrichosis simplex (HHS)
Ectodermal dysplasia v0.3 ALOXE3 Ellen McDonagh gene: ALOXE3 was added
gene: ALOXE3 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOXE3 were set to Some affected persons exhibit scarring alopecia; Ichthyosis, congenital, autosomal recessive 3, 606545
Ectodermal dysplasia v0.3 ALOX12B Ellen McDonagh gene: ALOX12B was added
gene: ALOX12B was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOX12B were set to Some affected persons exhibit scarring alopecia; Ichthyosis, congenital, autosomal recessive 2, 242100; Lamellar ichthyosis
Ectodermal dysplasia v0.3 AIRE Ellen McDonagh gene: AIRE was added
gene: AIRE was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: AIRE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia 240300
Ectodermal dysplasia v0.3 ABCA12 Ellen McDonagh gene: ABCA12 was added
gene: ABCA12 was added to Ectodermal dysplasia. Sources: Expert Review Red
Mode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA12 were set to Some affected persons exhibit scarring alopecia; Ichthyosis, autosomal recessive 4B (harlequin), 242500; Lamellar ichthyosis; Ichthyosis, congenital, autosomal recessive 4A, 601277
Hypogonadotropic hypogonadism v1.17 CCDC141 Anna de Burca gene: CCDC141 was added
gene: CCDC141 was added to Hypogonadotropic hypogonadism. Sources: Literature
Mode of inheritance for gene: CCDC141 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCDC141 were set to PMID: 28324054
Phenotypes for gene: CCDC141 were set to Normosmic IHH
Review for gene: CCDC141 was set to AMBER
Added comment: Only one publication, but describes 9 affected individuals from four families and includes functional evidence.
Sources: Literature
Intellectual disability v2.588 ZNF462 Konstantinos Varvagiannis gene: ZNF462 was added
gene: ZNF462 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: ZNF462 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZNF462 were set to 28513610; 29427787; 14564155; 12825074
Phenotypes for gene: ZNF462 were set to Ptosis; Prominent metopic ridge; Craniosynostosis; Global developmental delay; Intellectual disability; Autistic behavior
Penetrance for gene: ZNF462 were set to unknown
Review for gene: ZNF462 was set to AMBER
gene: ZNF462 was marked as current diagnostic
Added comment: Weiss et al. (PMID: 28513610) report on 8 individuals (from 6 unrelated families) with heterozygous pathogenic variants affecting ZNF462.

Frequent features included ptosis metopic ridging, craniosynostosis, dysgenesis of corpus callosum. DD (with or without ASD) was a feature in 4 (4/8), one of whom was reported to present mild ID.

4 LoF mutations as well as 2 9q31.2 deletions spanning also other genes are reported [NM_021224.4]:
Fam. 1 - c.3787C>T p.(Arg1263*) (familial) - Normal development in all 3 family members
Fam. 2 - c.2979_2980delinsA p.(Val994Trpfs*147) (de novo) - DD
Fam. 3 - c.4263delA p.(Glu1422Serfs*6) (de novo) - DD
Fam. 4 - Chr9:g.(108940763-110561397)del (hg19) (de novo) - Normal development
Fam. 5- Chr9:g(108464368-110362345)del (hg19) (de novo) - DD with mild ID
Fam. 6 - c.5145delC p.(Tyr1716Thrfs*28) (de novo) - DD

There were no expression/functional studies performed although haploinsufficiency can be presumed based on these variants (ZNF462 has a pLI of 1 in ExAC).
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Cosemans et al. (PMID: 29427787) report on an individual investigated - among others - for mild ID and ASD. This individual harbored a de novo (complex) translocation disrupting ZNF462 and KLF12.

As this subject presented similar features to those reported by Weiss et al. (eg. craniofacial anomalies, abn. development, ASD) and given that KLF12 is not associated with any disorder, the phenotype of this individual was thought to be secondary to disruption of ZNF462.

Details on this patient - before delineation of the translocation breakpoints - were provided previously by Fryns and Hendrickx ( PMID:9297446).
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Cited by the previous article, a further case of ZNF462 disruption due to translocation was previously published in the literature (same individual - Talisetti et al. PMID: 14564155 / Ramocki et al. PMID: 12825074). Profound ID was among the features of this individual although the translocation disrupted also a further ID gene (ASXL2).
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In ClinVar 8 variants have been submitted as pathogenic/likely pathogenic although a phenotype is provided only for 3 variants published by Weiss et al.(submitting lab participating in PMID: 28513610 / SCV000494060.1 corresp. to Fam.1 / SCV000494061.1 - Fam.2 / SCV000494062.1 - Fam. 3).
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Several individuals with de novo coding variants in ZNF462 have been reported in the context of larger cohorts (some with ID as a principal feature).
http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=ZNF462
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In Decipher apart from the DDD study participants DDD4K.03663 and DDD4K.03792 (appearing in the denovo-db) with LoF and abnormality of the nervous system, several further individuals have been submitted.

2 of these subjects, harbored a de novo LoF (submitted as pathogenic) and had ID as a feature.
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ZNF462 is included in the DD panel of G2P, associated with Craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay [Disease confidence: probable / Global DD (but not ID) among the phenotypes assigned to this entry].

This gene is not associated with any phenotype in OMIM.
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ZNF462 is included in gene panels for ID offered by diagnostic laboratories (incl. Radboudumc).
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As a result this gene can be considered for inclusion in the ID panel probably as amber (or green if the current evidence is thought to be sufficient).
Sources: Literature, Radboud University Medical Center, Nijmegen
Fetal anomalies v0.34 ACTB Anna de Burca reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22366783, 29220674, 26275891; Phenotypes: Baraitser-Winter syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.34 PIEZO1 Anna de Burca reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26333996, 23695678; Phenotypes: Lymphatic malformation 6, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.588 TBC1D20 Konstantinos Varvagiannis gene: TBC1D20 was added
gene: TBC1D20 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: TBC1D20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D20 were set to 24239381; 26063829
Phenotypes for gene: TBC1D20 were set to Warburg Micro syndrome 4 (MIM 615663)
Penetrance for gene: TBC1D20 were set to Complete
Review for gene: TBC1D20 was set to GREEN
gene: TBC1D20 was marked as current diagnostic
Added comment: Biallelic pathogenic variants in TBC1D20 cause Warburg Micro syndrome 4 (MIM 615663).
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Liegel et al. (PMID: 24239381) report on 7 individuals from 5 unrelated families. ID was a universal feature along with opthalmological, endocrine and other neurological features of the disorder. Seizures were noted in 4 individuals from 2 families. Table S4 of this article provides clinical details on each subject.

All affected individuals were homozygous for LoF variants, private to each family. 3 nonsense variants, 1 frameshift one as well as an intragenic deletion (exons 2-8) were identified.

These subjects belonged to a cohort of 77 individuals with suspected Warburg Micro syndrome (WMS) or disorders of the same spectrum (eg. Martsof syndrome).

Screening for TBC1D20 mutations in these individuals was performed after identification of a homozygous LoF Tbc1d20 mutation in blind sterile mice, presenting a phenotype somewhat similar to WMS (congenital cataracts and testicular anomalies).

Alternative causes of WM (eg. pathogenic variants in RAB3GAP1, RAB3GAP2 and RAB18) had previously been excluded in this cohort.

The authors demonstrated aberrant lipid droplet formation in embryonic fibroblasts from blind sterile mice as well as in fibroblasts from individuals with a diagnosis of WMS due to mutations in either of TBC1D20, RAB18 and RAB3GAP1.
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TBC1D20 is included in the DD panel of G2P, associated with Warburg micro syndrome 4 (Disease confidence: probable / ID among the phenotypes assigned to this entry).

This gene is included in gene panels for ID offered by different diagnostic laboratories (incl. Radboudumc).
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As a result, TBC1D20 can be considered for inclusion in the ID panel as green (or amber).
Sources: Literature, Radboud University Medical Center, Nijmegen
Intellectual disability v2.588 CWF19L1 Konstantinos Varvagiannis reviewed gene: CWF19L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25361784, 15981765, 26197978, 27016154; Phenotypes: Spinocerebellar ataxia, autosomal recessive 17 (MIM 616127); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability v2.588 CWF19L1 Konstantinos Varvagiannis Deleted their review
Intellectual disability v2.588 CWF19L1 Konstantinos Varvagiannis gene: CWF19L1 was added
gene: CWF19L1 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CWF19L1 were set to 25361784
Phenotypes for gene: CWF19L1 were set to Spinocerebellar ataxia, autosomal recessive 17 (MIM 616127)
Penetrance for gene: CWF19L1 were set to Complete
Review for gene: CWF19L1 was set to GREEN
gene: CWF19L1 was marked as current diagnostic
Added comment: Biallelic pathogenic variants in CWF19L1 cause Spinocerebellar ataxia, autosomal recessive 17 (MIM 616127).
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Burns et al. (2014 - PMID: 25361784) report on 2 sibs born to consanguineous parents, homozygous for a splice site variant (NM_018294.5:c.964+1G>A). Congenital ataxia with hypoplasia of vermis and cerebellar hemispheres and ID were features reported in both in this study.

Clinical details on this family were published previously (Yapici and Eraksoy - PMID: 15981765) where ID appeared to be a feature for one of the sibs (FSIQ of 68) but not the other (IQ of 90) [the sibs seem to correspond to patients 5 and 6 from the third family of the original report].

Expression in patient lymphoblastoid cell lines was reduced using expression micro-arrays and quantitative reverse-transcription PCR.

The variant was shown to lead to skipping of exon 9. Introduction of an out-of-frame stop codon (thus NMD) may explain mRNA levels.

Western blot using epitope spanning exons 5-7 demonstrated absence (in patient but not in control LCLs) of the 2 protein bands expected based on this epitope. [A shorter isoform due to downstream alternative start site would not be detectable].

Using commercial normal tissue brain lysates revealed only the canonical protein band suggesting that this is the isoform present in brain.

Morpholino knockdown of cwf91l1 in zebrafish resulted in altered cerebellar staining (/structure) and abnormal motor behavior.
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Nguyen et al. (2016 - PMID: 26197978) report on a further individual with ID, ataxia and abnormal cerebellum (extensive discussions whether this represents hypoplasia/atrophy) compound heterozygous for a missense (NM_018294.4:c.37G>C / p.Asp13His) and a nonsense variant (c.946A>T / p.Lys316*).

mRNA expression in patient fibroblasts was similar to control while cDNA sequence analysis was suggestive of lower levels for the r.946A>U transcript (compared to r.37G>C) possibly due to NMD.
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Evers et al. (2016 - PMID: 27016154) report on a further individual, born to consanguineous parents, homozygous a frameshift variant (NM_018294.5:c.467delC or p.Pro156Hisfs). This individual presented with ID, ataxia and similar cerebellar anomalies.

cDNA of 3 different regions of CWF19L1 suggested tht mRNA was not entirely degraded by NMD. Western blot demonstrated absence of a band corresponding to the longest isoform in patient LCL cells. [All isoforms discussed in Fig3].

A subsequent pregnancy of the same couple was terminated due to presence of additional fetal anomalies possibly not explained by homozygosity (only) for this variant which was confirmed (cerebellar measurements were in the the low-normal range and morphology reportedly normal).
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In ClinVar additional variants have been submitted as pathogenic/likely pathogenic (although a phenotype is not specified for all).
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CWF19L1 is not associated with any phenotype in G2P.
This gene is included in gene panels for ID offered by diagnostic laboratories (incl. Radboudumc).
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As a result CWF19L1 can be considered for inclusion in this panel probably as green (rather than amber).
Sources: Literature, Radboud University Medical Center, Nijmegen
Early onset or syndromic epilepsy v1.6 RNF13 Konstantinos Varvagiannis gene: RNF13 was added
gene: RNF13 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: RNF13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RNF13 were set to Congenital microcephaly; Feeding difficulties; Failure to thrive; Abnormal muscle tone; Global developmental delay; Intellectual disability; Seizures; Cortical visual impairment; Sensorineural hearing impairment
Penetrance for gene: RNF13 were set to unknown
Mode of pathogenicity for gene: RNF13 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: RNF13 was set to GREEN
Added comment: Edvardson et al. (doi.org/10.1016/j.ajhg.2018.11.018) report on 3 unrelated individuals with heterozygous de novo missense RNF13 variants.

Features included (rather borderline) congenital microcephaly, feeding difficulties, tone abnormalities, DD/ID (3/3), seizures (3/3), hearing loss and cortical visual impairment.

One individual harbored the p.Leu311Ser variant while 2 others the p.Leu312Pro.

RNF13 encodes a protein known to interact and activate IRE1a, an endoplasmatic reticulum (ER) stress sensor.

The 2 variants are predicted in silico not to affect the tertiary structure of the protein. Further to this, RNF13 is tolerant to LoF variants (pLI of 0 in ExAC). Therefore a gain-of-function mechanism was hypothesized for the 2 missense variants and demonstrated for the Leu311Ser:
- Protein levels were similar to controls upon Western blotting in patient fibroblasts.
- Enhanced IRE1a activation was demonstrated in patient cells when compared to controls, confirming gain-of-function.
- Increased activation (/ER stress), in turn, resulted in abnormally increased apoptosis similarly to what is observed in other neurological disorders.

Fibroblast/lymphoblast cells were not available from individuals with the Leu312Pro variant although a similar mechanism is presumed.

Although neurodegeneration is suggested by the above pathophysiologic mechanism, this is manifested by failure to achieve milestones (rather than eg. regression after a normal period of postnatal development / loss of milestones).
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RNF13 is not associated with any phenotype in OMIM, nor in G2P.
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As a result, RNF13 can be considered for inclusion in this panel possibly as green (or amber).
Sources: Literature
Intellectual disability v2.588 RNF13 Konstantinos Varvagiannis gene: RNF13 was added
gene: RNF13 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: RNF13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RNF13 were set to Congenital microcephaly; Feeding difficulties; Failure to thrive; Abnormal muscle tone; Global developmental delay; Intellectual disability; Seizures; Cortical visual impairment; Sensorineural hearing impairment
Penetrance for gene: RNF13 were set to unknown
Mode of pathogenicity for gene: RNF13 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: RNF13 was set to GREEN
Added comment: Edvardson et al. (doi.org/10.1016/j.ajhg.2018.11.018) report on 3 unrelated individuals with heterozygous de novo missense RNF13 variants.

Features included (rather borderline) congenital microcephaly, feeding difficulties, tone abnormalities, DD/ID (3/3), seizures (3/3), hearing loss and cortical visual impairment.

One individual harbored the p.Leu311Ser variant while 2 others the p.Leu312Pro.

RNF13 encodes a protein known to interact and activate IRE1a, an endoplasmatic reticulum (ER) stress sensor.

The 2 variants are predicted in silico not to affect the tertiary structure of the protein. Further to this, RNF13 is tolerant to LoF variants (pLI of 0 in ExAC). Therefore a gain-of-function mechanism was hypothesized for the 2 missense variants and demonstrated for the Leu311Ser:
- Protein levels were similar to controls upon Western blotting in patient fibroblasts.
- Enhanced IRE1a activation was demonstrated in patient cells when compared to controls, confirming gain-of-function.
- Increased activation (/ER stress), in turn, resulted in abnormally increased apoptosis similarly to what is observed in other neurological disorders.

Fibroblast/lymphoblast cells were not available from individuals with the Leu312Pro variant although a similar mechanism is presumed.

Although neurodegeneration is suggested by the above pathophysiologic mechanism, this is manifested by failure to achieve milestones (rather than eg. regression after a normal period of postnatal development / loss of milestones).
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RNF13 is not associated with any phenotype in OMIM, nor in G2P.
This gene is not commonly included in gene panels for ID offered by diagnostic laboratories.
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As a result, RNF13 can be considered for inclusion in this panel possibly as green (or amber).
Sources: Literature
Early onset or syndromic epilepsy v1.6 PPP2CA Konstantinos Varvagiannis gene: PPP2CA was added
gene: PPP2CA was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: PPP2CA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPP2CA were set to 29274472; 30030003
Phenotypes for gene: PPP2CA were set to Feeding difficulties; Muscular hypotonia; Global developmental delay; Intellectual disability; Language impairment; Seizures; Abnormality of nervous system morphology
Penetrance for gene: PPP2CA were set to unknown
Review for gene: PPP2CA was set to GREEN
Added comment: Reynhout et al. (doi.org/10.1016/j.ajhg.2018.12.002 - PMID not available) report on 16 individuals with heterozygous pathogenic PPP2CA variants.

Frequent features included feeding difficulties, hypotonia, developmental delay (16/16) with intellectual disability (probably 15/16 - a single individual developped cognitive dysfunction following a psychotic episode), language impairment, behavioral problems, seizures (10/16), brain abnormalities and variable other features.

The variants reported included 3 nonsense mutations, 1 frameshift, 1 duplication of one amino acid, 9 missense variants (of which one was observed twice and 2 affected Asp223) as well as a partial gene deletion (spanning also CDKL3).

Various mechanisms seemed to explain the effect of the different variants - among others - haploinsufficiency for some or a dominant negative effect for others, etc.

Type 2A protein phosphatases (PP2As) comprise 3 subunits, a catalytic C-type subunit (PPP2CA encodes the Cα subunit), a scaffolding A-type subunit as well as a regulatory B-type subunit important for their function. Impairment of PP2A-B56δ (encoded by PPP2R5D) binding/functionality was suggested for most of the variants. Similar dysfunction has been observed - among others - upon loss of one functional allele of PPP2R1A.

The effect of 2 variants affecting Asp223 (Asp223Val and Asp233His) was unclear as they largely behaved similar to wild-type in various functional assays. The authors argue that contribution of mutations in other genes could not be ruled out for the individuals harboring these variants, as could also be the case for the subject with disruption of (also) CDKL3.

The authors note overlapping phenotype with PPP2R1A and PPP2R5D-related ID (MIM 616362 and 616355 respectively - genes rated green in this panel).

Brain-specific Ppp2ca knockout in mice (PMID: 29274472) resulted in morphological and behavioral abnormalities partly overlapping with features observed in individuals with PPP2CA mutations. However mice heterozygous for null mutations have not been phenotypically examined (PMID: 30030003).
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PPP2CA is not associated with any phenotype in OMIM, nor in G2P.
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As a result, PPP2CA can be considered for inclusion in this panel as green (or amber).
Sources: Literature
Intellectual disability v2.588 PPP2CA Konstantinos Varvagiannis gene: PPP2CA was added
gene: PPP2CA was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: PPP2CA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPP2CA were set to 29274472; 30030003
Phenotypes for gene: PPP2CA were set to Feeding difficulties; Muscular hypotonia; Global developmental delay; Intellectual disability; Language impairment; Seizures; Abnormality of nervous system morphology
Penetrance for gene: PPP2CA were set to unknown
Review for gene: PPP2CA was set to GREEN
Added comment: Reynhout et al. (doi.org/10.1016/j.ajhg.2018.12.002 - PMID not available) report on 16 individuals with heterozygous pathogenic PPP2CA variants.

Frequent features included feeding difficulties, hypotonia, developmental delay (16/16) with intellectual disability (probably 15/16 - a single individual developped cognitive dysfunction following a psychotic episode), language impairment, behavioral problems, seizures (10/16), brain abnormalities and variable other features.

The variants reported included 3 nonsense mutations, 1 frameshift, 1 duplication of one amino acid, 9 missense variants (of which one was observed twice and 2 affected Asp223) as well as a partial gene deletion (spanning also CDKL3).

Various mechanisms seemed to explain the effect of the different variants - among others - haploinsufficiency for some or a dominant negative effect for others, etc.

Type 2A protein phosphatases (PP2As) comprise 3 subunits, a catalytic C-type subunit (PPP2CA encodes the Cα subunit), a scaffolding A-type subunit as well as a regulatory B-type subunit important for their function. Impairment of PP2A-B56δ (encoded by PPP2R5D) binding/functionality was suggested for most of the variants. Similar dysfunction has been observed - among others - upon loss of one functional allele of PPP2R1A.

The effect of 2 variants affecting Asp223 (Asp223Val and Asp233His) was unclear as they largely behaved similar to wild-type in various functional assays. The authors argue that contribution of mutations in other genes could not be ruled out for the individuals harboring these variants, as could also be the case for the subject with disruption of (also) CDKL3.

The authors note overlapping phenotype with PPP2R1A and PPP2R5D-related ID (MIM 616362 and 616355 respectively - genes rated green in this panel).

Brain-specific Ppp2ca knockout in mice (PMID: 29274472) resulted in morphological and behavioral abnormalities partly overlapping with features observed in individuals with PPP2CA mutations. However mice heterozygous for null mutations have not been phenotypically examined (PMID: 30030003).
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PPP2CA is not associated with any phenotype in OMIM, nor in G2P.
This gene is not commonly included in gene panels for ID offered by diagnostic laboratories.
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As a result, PPP2CA can be considered for inclusion in this panel as green.
Sources: Literature
Inherited renal cancer v0.1 CDKN2B Rachel Robinson reviewed gene: CDKN2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inherited renal cancer v0.1 MITF Rachel Robinson reviewed gene: MITF: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Inherited renal cancer v0.1 CDKN2B Rachel Robinson gene: CDKN2B was added
gene: CDKN2B was added to Inherited renal cancer. Sources: UKGTN
Mode of inheritance for gene: CDKN2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDKN2B were set to PMID:25873077
gene: CDKN2B was marked as current diagnostic
Inherited renal cancer v0.1 TMEM127 Rachel Robinson gene: TMEM127 was added
gene: TMEM127 was added to Inherited renal cancer. Sources: UKGTN
Mode of inheritance for gene: TMEM127 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM127 were set to PMID: 24334765
Review for gene: TMEM127 was set to GREEN
gene: TMEM127 was marked as current diagnostic
Added comment: Sources: UKGTN
Inherited renal cancer v0.1 MITF Rachel Robinson gene: MITF was added
gene: MITF was added to Inherited renal cancer. Sources: UKGTN
Mode of inheritance for gene: MITF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MITF were set to PMID: 27899189
gene: MITF was marked as current diagnostic
Inherited renal cancer v0.1 PTEN Rachel Robinson gene: PTEN was added
gene: PTEN was added to Inherited renal cancer. Sources: UKGTN
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Review for gene: PTEN was set to GREEN
gene: PTEN was marked as current diagnostic
Added comment: Sources: UKGTN
Inherited renal cancer v0.1 SDHC Rachel Robinson reviewed gene: SDHC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27899189; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Inherited renal cancer v0.1 SDHD Rachel Robinson gene: SDHD was added
gene: SDHD was added to Inherited renal cancer. Sources: UKGTN
Mode of inheritance for gene: SDHD was set to Other
Publications for gene: SDHD were set to PMID: 27899189
Penetrance for gene: SDHD were set to Complete
Review for gene: SDHD was set to GREEN
gene: SDHD was marked as current diagnostic
Added comment: SDHD linked pedigrees exhibit a clear parent-of-origin effect: inheritance of paraganglioma commonly occurs in an autosomal dominant way only when paternally transmitted. There are a few reports of SDHD-related disease with maternal transmission. The SDHD gene is not imprinted, SDHD-linked tumours arise upon paternal transmission of the mutation on selective loss of the entire maternal chromosome 11 (PMID: 15064708).
Sources: UKGTN
Inherited renal cancer v0.1 SDHC Rachel Robinson gene: SDHC was added
gene: SDHC was added to Inherited renal cancer. Sources: UKGTN
Mode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SDHC were set to PMID: 27899189
Inherited renal cancer v0.1 SDHB Rachel Robinson gene: SDHB was added
gene: SDHB was added to Inherited renal cancer. Sources: UKGTN
Mode of inheritance for gene: SDHB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SDHB were set to PMID: 27899189
Phenotypes for gene: SDHB were set to Cowden syndrome 2; Gastrointestinal stromal tumor; Paraganglioma and gastric stromal sarcoma; Paragangliomas 4; Pheochromocytoma.
Penetrance for gene: SDHB were set to Complete
Review for gene: SDHB was set to GREEN
gene: SDHB was marked as current diagnostic
Added comment: Sources: UKGTN
Inherited renal cancer v0.1 VHL Rachel Robinson gene: VHL was added
gene: VHL was added to Inherited renal cancer. Sources: UKGTN
Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VHL were set to PMID: 27899189
Phenotypes for gene: VHL were set to Renal hemangioblastoma; Renal cell carcinoma; Multiple renal cysts; Pheochromocytoma; Sporadic cerebellar hemangioblastoma; Hypernephroma; Pancreatic cancer; Paraganglioma; Adenocarcinoma of ampulla of Vater
Penetrance for gene: VHL were set to Complete
Review for gene: VHL was set to GREEN
gene: VHL was marked as current diagnostic
Added comment: Sources: UKGTN
Inherited renal cancer v0.1 MET Rachel Robinson gene: MET was added
gene: MET was added to Inherited renal cancer. Sources: UKGTN
Mode of inheritance for gene: MET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MET were set to PMID: 27899189
Phenotypes for gene: MET were set to hereditary papillary renal carcinoma with type 1 papillary tumors
Penetrance for gene: MET were set to Incomplete
Review for gene: MET was set to GREEN
gene: MET was marked as current diagnostic
Added comment: Sources: UKGTN
Inherited renal cancer v0.1 FLCN Rachel Robinson gene: FLCN was added
gene: FLCN was added to Inherited renal cancer. Sources: UKGTN
Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FLCN were set to PMID: 27899189
Phenotypes for gene: FLCN were set to Renal carcinoma; Parotid oncocytomas; Neural tissue tumors; Lipomas; Angiolipomas
Penetrance for gene: FLCN were set to Complete
Review for gene: FLCN was set to GREEN
gene: FLCN was marked as current diagnostic
Added comment: Sources: UKGTN
Inherited renal cancer v0.1 FH Rachel Robinson gene: FH was added
gene: FH was added to Inherited renal cancer. Sources: UKGTN
Mode of inheritance for gene: FH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FH were set to PMID: 27899189
Phenotypes for gene: FH were set to Uterine leiomyosarcoma (less common); Cutaneous leiomyosarcoma (less common); Renal cell carcinoma, solitary papillary type 2 (about 20% of patients)
Penetrance for gene: FH were set to Incomplete
Review for gene: FH was set to GREEN
Added comment: Mean age of diagnosis of renal cell carcinoma is 46 years.
Recessive pathogenic variants in fumarase deficiency.
Sources: UKGTN
Inherited renal cancer v0.1 BAP1 Rachel Robinson gene: BAP1 was added
gene: BAP1 was added to Inherited renal cancer. Sources: UKGTN
Mode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BAP1 were set to Malignant mesothelioma after asbestos exposure; Uveal melanoma; Cutaneous melanoma; Meningioma; Renal cell carcinoma, usually clear cell type
Penetrance for gene: BAP1 were set to Incomplete
Review for gene: BAP1 was set to GREEN
gene: BAP1 was marked as current diagnostic
Added comment: Sources: UKGTN
Early onset or syndromic epilepsy v1.6 CTNNA2 Konstantinos Varvagiannis gene: CTNNA2 was added
gene: CTNNA2 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: CTNNA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNNA2 were set to 30013181
Phenotypes for gene: CTNNA2 were set to Cortical dysplasia, complex, with other brain malformations 4, 618174
Penetrance for gene: CTNNA2 were set to Complete
Review for gene: CTNNA2 was set to GREEN
Added comment: Biallelic loss-of-function mutations in CTNNA2 cause cortical dysplasia, complex, with other brain malformations 9 (MIM 618174).
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Schaffer et al. (PMID: 30013181) report on 7 individuals from 3 unrelated consanguineous families. All individuals presented with profoundly impaired motor and cognitive development (severe ID in 6/7 for whom this information was available, all 6 from 2 families - a further individual from the 3rd family was non-ambulatory with absent speech at the age of 28 months), with acquired microcephaly and intractable seizures (7/7 - onset: 6m-3y - atonic/myoclonic/infantile spasms). Pachygyria without posterior-anterior gradient or focal dysplasias was common to all.

CTNNA2 encodes αN-catenin. It is expressed in human fetal brain, mainly in regions expressing migration markers DCX and TUJ1. Reduced migration was shown for iPSC-derived neural progenitor cells from an affected individual, compared to controls. The protein contains a putative actin-binding domain (ABD) at its C terminus. Several lines of evidence are provided that this domain is critical for the process of neuronal migration.
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CTNNA2 is included in the DD panel of G2P associated with disordered cortical neuronal migration (Disease confidence: probable / ID and seizures among the phenotypes assigned to this entry).

This gene is not commonly included in gene panels for intellectual disability.
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As a result CTNNA2 could be considered for inclusion in this panel as green (or amber).
Sources: Literature
Intellectual disability v2.588 CTNNA2 Konstantinos Varvagiannis gene: CTNNA2 was added
gene: CTNNA2 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: CTNNA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNNA2 were set to 30013181
Phenotypes for gene: CTNNA2 were set to Cortical dysplasia, complex, with other brain malformations 9 (MIM 618174)
Penetrance for gene: CTNNA2 were set to Complete
Review for gene: CTNNA2 was set to AMBER
Added comment: Biallelic loss-of-function mutations in CTNNA2 cause cortical dysplasia, complex, with other brain malformations 9 (MIM 618174).
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Schaffer et al. (PMID: 30013181) report on 7 individuals from 3 unrelated consanguineous families. All individuals presented with profoundly impaired motor and cognitive development (severe ID in 6/7 for whom this information was available, all 6 from 2 families - a further individual from the 3rd family was non-ambulatory with absent speech at the age of 28 months), with acquired microcephaly and intractable seizures (7/7 - onset: 6m-3y - atonic/myoclonic/infantile spasms). Pachygyria without posterior-anterior gradient or focal dysplasias was common to all.

CTNNA2 encodes αN-catenin. It is expressed in human fetal brain, mainly in regions expressing migration markers DCX and TUJ1. Reduced migration was shown for iPSC-derived neural progenitor cells from an affected individual, compared to controls. The protein contains a putative actin-binding domain (ABD) at its C terminus. Several lines of evidence are provided that this domain is critical for the process of neuronal migration.
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CTNNA2 is included in the DD panel of G2P associated with disordered cortical neuronal migration (Disease confidence: probable / ID and seizures among the phenotypes assigned to this entry).

This gene is not commonly included in gene panels for intellectual disability.
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As a result CTNNA2 could be considered for inclusion in this panel as amber or possibly green.
Sources: Literature
Intellectual disability v2.588 TSEN15 Konstantinos Varvagiannis gene: TSEN15 was added
gene: TSEN15 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: TSEN15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSEN15 were set to 27392077; 25558065
Phenotypes for gene: TSEN15 were set to Pontocerebellar hypoplasia, type 2F (MIM 617026)
Penetrance for gene: TSEN15 were set to Complete
Review for gene: TSEN15 was set to GREEN
gene: TSEN15 was marked as current diagnostic
Added comment: Biallelic pathogenic variants in TSEN15 cause Pontocerebellar hypoplasia, type 2F (MIM 617026).

Four individuals with molecular confirmation of the diagnosis, from 3 unrelated consanguineous families have been reported by Breuss et al. (PMID: 27392077). One of these individuals was previously included in a study of neurogenetic disorders in consanguineous families (Alazami et al. - PMID: 25558065). A similarly affected sib (possibly not tested) was reported for one patient.

DD with variable degrees of ID (mild to severe), progressive microcephaly were common to all. Seizures were noted in 2 individuals. MRI images (for the feature of pontocerebellar hypoplasia - PCH) were only available for 2 families.

Affected subjects were homozygous for missense variants private to each family, namely:
- NM_052965.3:c.226T>G (p.Trp76Gly)
- NM_052965.3:c.346C>T (p.His116Tyr)
- NM_052965.3:c.455A>G (p.Tyr152Cys)

Trp76Gly and Tyr152Cys resulted in reduced protein abundance while His116Tyr did not have an effect on TSEN15 expression levels.

TSEN15 is part of the tRNA splicing endonuclease complex, the 3 other components of which (TSEN2, TSEN34, TSEN54) have already been associated with PCH. The complex interacts with an RNA kinase encoded by CLP1.

All 3 variants resulted in altered stoichiometry (/relative abundance) of the 3 other subunits of the complex as well as the relative levels of CLP1.

Almost complete loss of in vitro tRNA cleavage activity was the case for purified complexes from all 3 mutants.
------
TSEN15 is included in the DD panel of G2P associated with Pontocerebellar Hypoplasia and Progressive Microcephaly (Disease confidence: probable). ID is among the assigned phenotypes.

This gene is included in gene panels for ID offered by diagnostic laboratories (incl. Radboudumc).
------
As a result, TSEN15 could be considered for inclusion in this panel as green (or amber).
Sources: Literature, Radboud University Medical Center, Nijmegen
Intellectual disability v2.588 RAB11A Konstantinos Varvagiannis gene: RAB11A was added
gene: RAB11A was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: RAB11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAB11A were set to 29100083
Phenotypes for gene: RAB11A were set to Global developmental delay; Intellectual disability
Penetrance for gene: RAB11A were set to unknown
Review for gene: RAB11A was set to AMBER
gene: RAB11A was marked as current diagnostic
Added comment: PMID: 29100083 (by Hamdan et al.) is a study on de novo mutations in individuals with developmental and epileptic encephalopathies (DEE).

One subject from this study was found to harbor a de novo missense RAB11A variant [NM_004663.4:c.244C>T or p.(Arg82Cys)]. This individual presented with epilepsy, developmental regression and severe ID.

In their cohort the authors also identified an additional individual with a de novo missense variant [(c.71A>G or p.(Lys24Arg)] who had moderate ID and abnormal EEG albeit without seizures.

De novo variants in RAB11A had previously been identified in 3 DDD study participants with ID.

The authors obtained clinical details on the 2 individuals with the p.(Ser154Leu) variant [NM_004663.4:c.461C>T]. One of them had moderate ID without seizures while the other had moderate global DD at the age of 4 years, also without seizures.

A third DDD study participant harbored another missense variant p.(Lys13Asn) [NM_004663.4:c.39A>C] as a de novo occurence. The authors did not manage to obtain clinical details although this patient was reported to have abnormalities of the nervous system in Decipher.

The features of all 4 individuals for whom clinical details were available are summarized in table 7.

Previous studies suggest that RAB11A has a role in NTRK2 and AMPA receptor recycling at the post-synaptic membrane of neurons and - as a result - in regulation of synaptic plasticity.
-----------
RAB11A is not associated with any phenotype in OMIM.

This gene is included in the DD panel of G2P, associated with epilepsy and intellectual disability (disease confidence: probable).

It is also included in gene panels for ID offered by some diagnostic laboratories.
-----------
As a result, it can be considered for inclusion in this panel as amber or possibly green (3 unrelated individuals with ID, 1 further with DD at a young age).
Sources: Literature
Early onset or syndromic epilepsy v1.6 SLC35A3 Konstantinos Varvagiannis gene: SLC35A3 was added
gene: SLC35A3 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: SLC35A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35A3 were set to 24031089; 28328131; 28777481; 16344554
Phenotypes for gene: SLC35A3 were set to ?Arthrogryposis, mental retardation, and seizures (MIM 615553)
Penetrance for gene: SLC35A3 were set to Complete
Review for gene: SLC35A3 was set to GREEN
Added comment: Biallelic pathogenic variants in SLC35A3 cause Arthrogryposis, mental retardation, and seizures (MIM 615553).
--------
Edvardson et al. (PMID: 24031089) report on 8 affected individuals from 3 nuclear Ashkenazi Jewish families. All harbored a nonsense [NM_012243.1:c.514C>T / p.(Gln172*)] as well as a missense variant [NM_012243.1:c.886A>G / p.(Ser296Gly)] in the compound heterozygous state. Most of the parents, who were heterozygous for the one or the other variant, were distantly related.

Common features included ASD (8/8), arthrogryposis (8/8), seizures (6/8) and intellectual disability (6/8 - variable degrees).

Upon cDNA studies, the (predicted) missense variant led to skipping of exon 8 and there was no normal size transcript (as would be expected for a variant of this type). Introduction of a premature stop codon due to this variant as well instability of the mRNA from the Gln172Ter allele was presumed to lead to absence of functional SLC35A3 protein.

Testing of 2045 Ashkenazi Jewish individuals revealed a carrier frequency of 1/205 for the missense variant in this community (with no occurrence of the nonsense variant).

SLC35A3 is a nucleotide sugar transporter that transports (uniquely) UDP-N-acetylglucosamine (UDP-GlcNAc) from the cytoplasm where it is synthesized to its site of use in the Golgi. Proper function of such transporters is essential for biosynthesis of glycoproteins, glycolipids and proteoglycans.

Although the transport of UDP-GlcNAc is mediated also by other less specific transporters, members of the SLC35 family, reduced transport was shown in patient fibroblasts compared to controls. In addition an abnormal N-glycan profile was shown in patient fibroblasts (but was not the case in serum).

Biallelic SLC35A3 mutations in cattle were previously shown to cause a Complex Vertebral Malformation (CVM) syndrome characterized by abnormal growth, vertebral and heart malformations as well as arthrogryposis (Thomsen et al. - PMID: 16344554). Arthrogryposis as well as some skeletal features observed in patients were similar to those of the animal model.
--------
Marini et al. (PMID: 28328131) report on 2 sibs compound heterozygous for a missense and a frameshift variant [NM_012243.2:c.73C>T or p.(Arg25Cys) and c.899_900delTTinsA or p.(Leu300Glnfs*6)]. Hypotonia, DD with ID, early-onset seizures and arthrogryposis were features in both. Severe scoliosis was also noted in the younger sib.
---------
Edmondson et al. (PMID: 28777481) report on a neonate (follow-up till the 21st day of life) with extensive vertebral anomalies (butterfly vertebrae, hemibertebrae, sagittal clefts, scoliosis), heart defects (PFO, PDA) and arthrogryposis. Presence of hypotonia or other neurologic features (eg. seizures) is not commented on. Conventional caryotype and SNP-array analysis were normal apart from the presence of ROH regions due to parental consanguinity. Exome sequencing revealed only a homozygous missense SNV [c.74G>T or p.(Arg25Leu) - NP_036375.1] which was supported by an abnormal N-glycan profile. As proposed for the bovine model (PMID: 16344554) and discussed in this article, similarity of the skeletal/congenital heart defects with those observed in Alagille syndrome might be due to some of the Notch functions being dependent upon N-acetylglucosamine modification.
---------
In ClinVar :

There is a further submission of p.Ser296Gly as pathogenic (SCV000699337.1 - 2016) apart from the submission by OMIM (SCV000108589.2 - 2013). The associated condition is Arthrogryposis, mental retardation, and seizures.

A frameshift variant [NM_012243.2(SLC35A3):c.680dup (p.Asp227Glufs)- SCV000826704.1 - April 2018] as well as an intragenic deletion [NC_000001.10:g.(?_100472570)_(100477109_?)del (GRCh37) - SCV000837123.1 - June 2018] have both been submitted as pathogenic, associated with Arthrogryposis, mental retardation, and seizures. (Note: due to the different submission dates, one can presume that these variants were found in different individuals).
---------
SLC35A3 is not associated with any phenotype in G2P.
---------
As a result, this gene can be considered for inclusion in the epilepsy panel probably as green (or amber)
[Consider upgrade of this gene to green in other panels (eg. CDGs, arthrogryposis, IEMs) and/or inclusion in other possibly relevant panels.]
Sources: Literature
Intellectual disability v2.588 SLC35A3 Konstantinos Varvagiannis gene: SLC35A3 was added
gene: SLC35A3 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: SLC35A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35A3 were set to 24031089; 28328131; 28777481; 16344554
Phenotypes for gene: SLC35A3 were set to ?Arthrogryposis, mental retardation, and seizures (MIM 615553)
Penetrance for gene: SLC35A3 were set to Complete
Review for gene: SLC35A3 was set to GREEN
gene: SLC35A3 was marked as current diagnostic
Added comment: Biallelic pathogenic variants in SLC35A3 cause Arthrogryposis, mental retardation, and seizures (MIM 615553).
--------
Edvardson et al. (PMID: 24031089) report on 8 affected individuals from 3 nuclear Ashkenazi Jewish families. All harbored a nonsense [NM_012243.1:c.514C>T / p.(Gln172*)] as well as a missense variant [NM_012243.1:c.886A>G / p.(Ser296Gly)] in the compound heterozygous state. Most of the parents, who were heterozygous for the one or the other variant, were distantly related.

Common features included ASD (8/8), arthrogryposis (8/8), seizures (6/8) and intellectual disability (6/8 - variable degrees).

Upon cDNA studies, the (predicted) missense variant led to skipping of exon 8 and there was no normal size transcript (as would be expected for a variant of this type). Introduction of a premature stop codon due to this variant as well instability of the mRNA from the Gln172Ter allele was presumed to lead to absence of functional SLC35A3 protein.

Testing of 2045 Ashkenazi Jewish individuals revealed a carrier frequency of 1/205 for the missense variant in this community (with no occurrence of the nonsense variant).

SLC35A3 is a nucleotide sugar transporter that transports (uniquely) UDP-N-acetylglucosamine (UDP-GlcNAc) from the cytoplasm where it is synthesized to its site of use in the Golgi. Proper function of such transporters is essential for biosynthesis of glycoproteins, glycolipids and proteoglycans.

Although the transport of UDP-GlcNAc is mediated also by other less specific transporters, members of the SLC35 family, reduced transport was shown in patient fibroblasts compared to controls. In addition an abnormal N-glycan profile was shown in patient fibroblasts (but was not the case in serum).

Biallelic SLC35A3 mutations in cattle were previously shown to cause a Complex Vertebral Malformation (CVM) syndrome characterized by abnormal growth, vertebral and heart malformations as well as arthrogryposis (Thomsen et al. - PMID: 16344554). Arthrogryposis as well as some skeletal features observed in patients were similar to those of the animal model.
--------
Marini et al. (PMID: 28328131) report on 2 sibs compound heterozygous for a missense and a frameshift variant [NM_012243.2:c.73C>T or p.(Arg25Cys) and c.899_900delTTinsA or p.(Leu300Glnfs*6)]. Hypotonia, DD with ID, early-onset seizures and arthrogryposis were features in both. Severe scoliosis was also noted in the younger sib.
---------
Edmondson et al. (PMID: 28777481) report on a neonate (follow-up till the 21st day of life) with extensive vertebral anomalies (butterfly vertebrae, hemibertebrae, sagittal clefts, scoliosis), heart defects (PFO, PDA) and arthrogryposis. Presence of hypotonia or other neurologic features (eg. seizures) is not commented on. Conventional caryotype and SNP-array analysis were normal apart from the presence of ROH regions due to parental consanguinity. Exome sequencing revealed only a homozygous missense SNV [c.74G>T or p.(Arg25Leu) - NP_036375.1] which was supported by an abnormal N-glycan profile. As proposed for the bovine model (PMID: 16344554) and discussed in this article, similarity of the skeletal/congenital heart defects with those observed in Alagille syndrome might be due to some of the Notch functions being dependent upon N-acetylglucosamine modification.
---------
In ClinVar :

There is a further submission of p.Ser296Gly as pathogenic (SCV000699337.1 - 2016) apart from the submission by OMIM (SCV000108589.2 - 2013). The associated condition is Arthrogryposis, mental retardation, and seizures.

A frameshift variant [NM_012243.2(SLC35A3):c.680dup (p.Asp227Glufs)- SCV000826704.1 - April 2018] as well as an intragenic deletion [NC_000001.10:g.(?_100472570)_(100477109_?)del (GRCh37) - SCV000837123.1 - June 2018] have both been submitted as pathogenic, associated with Arthrogryposis, mental retardation, and seizures. (Note: due to the different submission dates, one can presume that these variants were found in different individuals).
---------
SLC35A3 is not associated with any phenotype in OMIM.
It is included in gene panels for ID offered by some diagnostic laboratories.
---------
As a result, this gene can be considered for inclusion in the ID panel probably as green (or amber)
[Consider upgrade of this gene to green in other panels (eg. CDGs, arthrogryposis, IEMs) and/or inclusion in other possibly relevant panels.]
Sources: Literature
Intellectual disability v2.588 SLC35A1 Konstantinos Varvagiannis reviewed gene: SLC35A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30115659, 23873973, 28856833; Phenotypes: Congenital disorder of glycosylation, type IIf (MIM 603585); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability v2.588 PTRH2 Konstantinos Varvagiannis gene: PTRH2 was added
gene: PTRH2 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTRH2 were set to 25574476; 27129381; 25558065; 28328138; 28175314
Phenotypes for gene: PTRH2 were set to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (MIM 616263)
Penetrance for gene: PTRH2 were set to Complete
Review for gene: PTRH2 was set to GREEN
gene: PTRH2 was marked as current diagnostic
Added comment: Biallelic pathogenic variants in PTRH2 cause Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (MIM 616263).

Several affected individuals have been reported to date. ID was a feature in the majority.

Hu et al. (2014 - PMID:25574476) reported on 2 sibs born to consanguineous Yazidian-Turkish family, homozygous for a frameshift variant [NM_016077.4(PTRH2):c.269_270delCT (p.Ala90Glyfs)].

In PMID: 27129381 (2016) the same group reported on 5 additional individuals, from 2 unrelated consanguineous (Tunesian / Saudi-Arabian) pedigrees. These subjects were homozygous for a missense variant [NM_016077.4(PTRH2):c.254A>C (p.Gln85Pro)].

A summary of the features observed in all 7 cases is provided in table 1 of the latter article. ID was a feature in all 6 individuals for whom this information was available (6/7). Phenotypic variability even among individuals with the same variant is underscored.

mRNA studies for both variants have shown similar levels compared to controls, with reduced protein upon Western blot (for both). In Ptrh2-null mouse model a similar to the human phenotype is observed (muscle weakness and wasting, ataxia, cerebelar atrophy, etc.) (PMIDs:25574476 and 28175314).

Alazami et al. (PMID: 25558065 - 2015) report on an additional individual homozygous for the p.Gln85Pro variant. This boy presented with intellectual disability (clinical details provided in the supplement).

Sharkia et al. (PMID: 28328138) describe 3 sibs homozygous for the p.Gln85Pro variant. The index patient was reported to have normal intelligence upon formal testing which also appeared to be the case for her 2 sisters.

Apart from the 2 variants observed in the published patients, 2 further variants have been submitted in ClinVar as likely pathogenic, namely : NM_016077.4(PTRH2):c.253C>T (p.Gln85Ter) and NM_001015509.2(PTRH2):c.114dup (p.Gly39Trpfs).

PTRH2 is not associated with any phenotype in G2P.

This gene is included in gene panels for intellectual disability offered by diagnostic laboratories (incl. Radboudumc).

As a result it can be considered for inclusion in the ID panel as green (or amber).

[As several individuals presented with ataxia, demyelinating sensorimotor neuropathy, sensorineural hearing loss and other possibly relevant phenotypes, consider inclusion in the respective gene panels].
Sources: Literature, Radboud University Medical Center, Nijmegen
Ataxia and cerebellar anomalies - narrow panel v0.35 TBP_CAG Louise Daugherty Classified STR: TBP_CAG as Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v0.35 TBP_CAG Louise Daugherty Str: tbp_cag has been classified as Green List (High Evidence).
Ataxia and cerebellar anomalies - narrow panel v0.34 TBP_CAG Louise Daugherty STR: TBP_CAG was added
STR: TBP_CAG was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list
STR tags were added to STR: TBP_CAG.
Mode of inheritance for STR: TBP_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: TBP_CAG were set to 20301611
Phenotypes for STR: TBP_CAG were set to Spinocerebellar ataxia 17 607136
Review for STR: TBP_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia v1.150
Sources: Expert list
Ataxia and cerebellar anomalies - narrow panel v0.33 PPP2R2B_CAG Louise Daugherty Classified STR: PPP2R2B_CAG as Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v0.33 PPP2R2B_CAG Louise Daugherty Str: ppp2r2b_cag has been classified as Green List (High Evidence).
Ataxia and cerebellar anomalies - narrow panel v0.32 PPP2R2B_CAG Louise Daugherty STR: PPP2R2B_CAG was added
STR: PPP2R2B_CAG was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list
STR tags were added to STR: PPP2R2B_CAG.
Mode of inheritance for STR: PPP2R2B_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: PPP2R2B_CAG were set to Spinocerebellar ataxia 12 604326
Review for STR: PPP2R2B_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia v1.150
Sources: Expert list
Ataxia and cerebellar anomalies - narrow panel v0.31 NOP56_GGCCTG Louise Daugherty Classified STR: NOP56_GGCCTG as Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v0.31 NOP56_GGCCTG Louise Daugherty Str: nop56_ggcctg has been classified as Green List (High Evidence).
Ataxia and cerebellar anomalies - narrow panel v0.30 NOP56_GGCCTG Louise Daugherty STR: NOP56_GGCCTG was added
STR: NOP56_GGCCTG was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list
STR tags were added to STR: NOP56_GGCCTG.
Mode of inheritance for STR: NOP56_GGCCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: NOP56_GGCCTG were set to Spinocerebellar ataxia 36 614153
Review for STR: NOP56_GGCCTG was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia v1.150
Sources: Expert list
Ataxia and cerebellar anomalies - narrow panel v0.29 HTT_CAG Louise Daugherty Classified STR: HTT_CAG as Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v0.29 HTT_CAG Louise Daugherty Str: htt_cag has been classified as Green List (High Evidence).
Ataxia and cerebellar anomalies - narrow panel v0.28 HTT_CAG Louise Daugherty STR: HTT_CAG was added
STR: HTT_CAG was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list
STR tags were added to STR: HTT_CAG.
Mode of inheritance for STR: HTT_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: HTT_CAG were set to Huntington disease 143100
Review for STR: HTT_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia v1.150
Sources: Expert list
Ataxia and cerebellar anomalies - narrow panel v0.27 FXN_GAA Louise Daugherty Classified STR: FXN_GAA as Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v0.27 FXN_GAA Louise Daugherty Str: fxn_gaa has been classified as Green List (High Evidence).
Ataxia and cerebellar anomalies - narrow panel v0.26 FXN_GAA Louise Daugherty STR: FXN_GAA was added
STR: FXN_GAA was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list
STR tags were added to STR: FXN_GAA.
Mode of inheritance for STR: FXN_GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for STR: FXN_GAA were set to Friedreich ataxia 229300
Review for STR: FXN_GAA was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia v1.150
Sources: Expert list
Ataxia and cerebellar anomalies - narrow panel v0.25 CSTB_CCCCGCCCCGCG Louise Daugherty Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v0.25 CSTB_CCCCGCCCCGCG Louise Daugherty Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Ataxia and cerebellar anomalies - narrow panel v0.24 CSTB_CCCCGCCCCGCG Louise Daugherty STR: CSTB_CCCCGCCCCGCG was added
STR: CSTB_CCCCGCCCCGCG was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list
STR tags were added to STR: CSTB_CCCCGCCCCGCG.
Mode of inheritance for STR: CSTB_CCCCGCCCCGCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for STR: CSTB_CCCCGCCCCGCG were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
Review for STR: CSTB_CCCCGCCCCGCG was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia v1.150
Sources: Expert list
Ataxia and cerebellar anomalies - narrow panel v0.23 CACNA1A_CAG Louise Daugherty Classified STR: CACNA1A_CAG as Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v0.23 CACNA1A_CAG Louise Daugherty Str: cacna1a_cag has been classified as Green List (High Evidence).
Ataxia and cerebellar anomalies - narrow panel v0.22 CACNA1A_CAG Louise Daugherty STR: CACNA1A_CAG was added
STR: CACNA1A_CAG was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list
STR tags were added to STR: CACNA1A_CAG.
Mode of inheritance for STR: CACNA1A_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: CACNA1A_CAG were set to Spinocerebellar ataxia 6 183086
Review for STR: CACNA1A_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia v1.150
Sources: Expert list
Undiagnosed metabolic disorders v1.82 GLS Saikat Santra reviewed gene: GLS: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29468182; Phenotypes: Intellectual disability, Ataxia, Optic Atrophy; Mode of inheritance: None
Undiagnosed metabolic disorders v1.82 UPB1 Saikat Santra reviewed gene: UPB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24526388, 25638458, 22525402; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.82 BCAT2 Saikat Santra reviewed gene: BCAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25653144; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v0.21 ATXN7_CAG Louise Daugherty Classified STR: ATXN7_CAG as Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v0.21 ATXN7_CAG Louise Daugherty Str: atxn7_cag has been classified as Green List (High Evidence).
Ataxia and cerebellar anomalies - narrow panel v0.20 ATXN7_CAG Louise Daugherty STR: ATXN7_CAG was added
STR: ATXN7_CAG was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list
STR tags were added to STR: ATXN7_CAG.
Mode of inheritance for STR: ATXN7_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN7_CAG were set to Spinocerebellar ataxia 7 164500
Review for STR: ATXN7_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia v1.150
Sources: Expert list
Ataxia and cerebellar anomalies - narrow panel v0.19 ATXN3_CAG Louise Daugherty Classified STR: ATXN3_CAG as Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v0.19 ATXN3_CAG Louise Daugherty Str: atxn3_cag has been classified as Green List (High Evidence).
Ataxia and cerebellar anomalies - narrow panel v0.18 ATXN3_CAG Louise Daugherty STR: ATXN3_CAG was added
STR: ATXN3_CAG was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list
STR tags were added to STR: ATXN3_CAG.
Mode of inheritance for STR: ATXN3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN3_CAG were set to Machado-Joseph disease 109150
Review for STR: ATXN3_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia v1.150
Sources: Expert list
Undiagnosed metabolic disorders v1.82 GAMT Saikat Santra reviewed gene: GAMT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Creatine deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v0.17 ATXN2_CAG Louise Daugherty Classified STR: ATXN2_CAG as Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v0.17 ATXN2_CAG Louise Daugherty Str: atxn2_cag has been classified as Green List (High Evidence).
Ataxia and cerebellar anomalies - narrow panel v0.16 ATXN2_CAG Louise Daugherty STR: ATXN2_CAG was added
STR: ATXN2_CAG was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list
STR tags were added to STR: ATXN2_CAG.
Mode of inheritance for STR: ATXN2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN2_CAG were set to Spinocerebellar ataxia 2 183090
Review for STR: ATXN2_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia v1.150
Sources: Expert list
Undiagnosed metabolic disorders v1.82 DHCR7 Saikat Santra reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dysmorphism, Cataract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v0.14 ATXN10_ATTCT Louise Daugherty Classified STR: ATXN10_ATTCT as Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v0.14 ATXN10_ATTCT Louise Daugherty Str: atxn10_attct has been classified as Green List (High Evidence).
Ataxia and cerebellar anomalies - narrow panel v0.13 ATXN10_ATTCT Louise Daugherty STR: ATXN10_ATTCT was added
STR: ATXN10_ATTCT was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list
STR tags were added to STR: ATXN10_ATTCT.
Mode of inheritance for STR: ATXN10_ATTCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ATXN10_ATTCT were set to 12164725
Phenotypes for STR: ATXN10_ATTCT were set to Spinocerebellar ataxia 10 603516
Review for STR: ATXN10_ATTCT was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia v1.150
Sources: Expert list
Ataxia and cerebellar anomalies - narrow panel v0.12 ATXN1_CAG Louise Daugherty Classified STR: ATXN1_CAG as Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v0.12 ATXN1_CAG Louise Daugherty Str: atxn1_cag has been classified as Green List (High Evidence).
Ataxia and cerebellar anomalies - narrow panel v0.11 ATXN1_CAG Louise Daugherty STR: ATXN1_CAG was added
STR: ATXN1_CAG was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list
STR tags were added to STR: ATXN1_CAG.
Mode of inheritance for STR: ATXN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN1_CAG were set to Spinocerebellar ataxia 1 164400
Review for STR: ATXN1_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia v1.150
Sources: Expert list
Ataxia and cerebellar anomalies - narrow panel v0.10 ATN1_CAG Louise Daugherty Classified STR: ATN1_CAG as Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v0.10 ATN1_CAG Louise Daugherty Str: atn1_cag has been classified as Green List (High Evidence).
Ataxia and cerebellar anomalies - narrow panel v0.9 ATN1_CAG Louise Daugherty STR: ATN1_CAG was added
STR: ATN1_CAG was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list
STR tags were added to STR: ATN1_CAG.
Mode of inheritance for STR: ATN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ATN1_CAG were set to 20301664; 8136840; 20301664; 8136840; 8136826; 7614090
Phenotypes for STR: ATN1_CAG were set to Dentatorubro-pallidoluysian atrophy 125370
Review for STR: ATN1_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia v1.150
Sources: Expert list
Childhood onset hereditary spastic paraplegia v0.29 TBP_CAG Louise Daugherty Classified STR: TBP_CAG as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v0.29 TBP_CAG Louise Daugherty Str: tbp_cag has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.28 TBP_CAG Louise Daugherty STR: TBP_CAG was added
STR: TBP_CAG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list
STR tags were added to STR: TBP_CAG.
Mode of inheritance for STR: TBP_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: TBP_CAG were set to Spinocerebellar ataxia 17 607136
Review for STR: TBP_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141
Sources: Expert list
Childhood onset hereditary spastic paraplegia v0.27 PPP2R2B_CAG Louise Daugherty Classified STR: PPP2R2B_CAG as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v0.27 PPP2R2B_CAG Louise Daugherty Str: ppp2r2b_cag has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.26 PPP2R2B_CAG Louise Daugherty STR: PPP2R2B_CAG was added
STR: PPP2R2B_CAG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list
STR tags were added to STR: PPP2R2B_CAG.
Mode of inheritance for STR: PPP2R2B_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: PPP2R2B_CAG were set to Spinocerebellar ataxia 12 604326
Review for STR: PPP2R2B_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141
Sources: Expert list
Childhood onset hereditary spastic paraplegia v0.25 HTT_CAG Louise Daugherty Classified STR: HTT_CAG as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v0.25 HTT_CAG Louise Daugherty Str: htt_cag has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.24 HTT_CAG Louise Daugherty Marked STR: HTT_CAG as ready
Childhood onset hereditary spastic paraplegia v0.24 HTT_CAG Louise Daugherty Str: htt_cag has been classified as Red List (Low Evidence).
Childhood onset hereditary spastic paraplegia v0.24 HTT_CAG Louise Daugherty STR: HTT_CAG was added
STR: HTT_CAG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list
STR tags were added to STR: HTT_CAG.
Mode of inheritance for STR: HTT_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: HTT_CAG were set to Huntington disease 143100
Review for STR: HTT_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141
Sources: Expert list
Childhood onset hereditary spastic paraplegia v0.23 FXN_GAA Louise Daugherty Classified STR: FXN_GAA as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v0.23 FXN_GAA Louise Daugherty Str: fxn_gaa has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.22 FXN_GAA Louise Daugherty STR: FXN_GAA was added
STR: FXN_GAA was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list
STR tags were added to STR: FXN_GAA.
Mode of inheritance for STR: FXN_GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for STR: FXN_GAA were set to Friedreich ataxia 229300
Review for STR: FXN_GAA was set to GREEN
Added comment: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141
Sources: Expert list
Childhood onset hereditary spastic paraplegia v0.21 CACNA1A_CAG Louise Daugherty Classified STR: CACNA1A_CAG as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v0.21 CACNA1A_CAG Louise Daugherty Str: cacna1a_cag has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.20 CACNA1A_CAG Louise Daugherty STR: CACNA1A_CAG was added
STR: CACNA1A_CAG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list
STR tags were added to STR: CACNA1A_CAG.
Mode of inheritance for STR: CACNA1A_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: CACNA1A_CAG were set to Spinocerebellar ataxia 6 183086
Review for STR: CACNA1A_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141
Sources: Expert list
Childhood onset hereditary spastic paraplegia v0.19 ATXN7_CAG Louise Daugherty Classified STR: ATXN7_CAG as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v0.19 ATXN7_CAG Louise Daugherty Str: atxn7_cag has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.18 ATXN7_CAG Louise Daugherty STR: ATXN7_CAG was added
STR: ATXN7_CAG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list
STR tags were added to STR: ATXN7_CAG.
Mode of inheritance for STR: ATXN7_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN7_CAG were set to Spinocerebellar ataxia 7 164500
Review for STR: ATXN7_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141
Sources: Expert list
Childhood onset hereditary spastic paraplegia v0.17 ATXN3_CAG Louise Daugherty Classified STR: ATXN3_CAG as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v0.17 ATXN3_CAG Louise Daugherty Str: atxn3_cag has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.16 ATXN3_CAG Louise Daugherty STR: ATXN3_CAG was added
STR: ATXN3_CAG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list
STR tags were added to STR: ATXN3_CAG.
Mode of inheritance for STR: ATXN3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN3_CAG were set to Machado-Joseph disease 109150
Review for STR: ATXN3_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141
Sources: Expert list
Childhood onset hereditary spastic paraplegia v0.15 ATXN2_CAG Louise Daugherty Classified STR: ATXN2_CAG as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v0.15 ATXN2_CAG Louise Daugherty Str: atxn2_cag has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.14 ATXN2_CAG Louise Daugherty STR: ATXN2_CAG was added
STR: ATXN2_CAG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list
STR tags were added to STR: ATXN2_CAG.
Mode of inheritance for STR: ATXN2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN2_CAG were set to Spinocerebellar ataxia 2 183090
Review for STR: ATXN2_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141
Sources: Expert list
Childhood onset hereditary spastic paraplegia v0.13 ATXN10_ATTCT Louise Daugherty Classified STR: ATXN10_ATTCT as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v0.13 ATXN10_ATTCT Louise Daugherty Str: atxn10_attct has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.12 ATXN10_ATTCT Louise Daugherty STR: ATXN10_ATTCT was added
STR: ATXN10_ATTCT was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list
STR tags were added to STR: ATXN10_ATTCT.
Mode of inheritance for STR: ATXN10_ATTCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN10_ATTCT were set to Spinocerebellar ataxia 10 603516
Review for STR: ATXN10_ATTCT was set to GREEN
Added comment: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141
Sources: Expert list
Childhood onset hereditary spastic paraplegia v0.11 ATXN1_CAG Louise Daugherty Classified STR: ATXN1_CAG as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v0.11 ATXN1_CAG Louise Daugherty Str: atxn1_cag has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v0.10 ATXN1_CAG Louise Daugherty STR: ATXN1_CAG was added
STR: ATXN1_CAG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list
STR tags were added to STR: ATXN1_CAG.
Mode of inheritance for STR: ATXN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN1_CAG were set to Spinocerebellar ataxia 1 164400
Review for STR: ATXN1_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141
Sources: Expert list
Hereditary ataxia with onset in adulthood v0.34 TBP_CAG Louise Daugherty Classified STR: TBP_CAG as Green List (high evidence)
Hereditary ataxia with onset in adulthood v0.34 TBP_CAG Louise Daugherty Str: tbp_cag has been classified as Green List (High Evidence).
Hereditary ataxia with onset in adulthood v0.33 TBP_CAG Louise Daugherty Classified STR: TBP_CAG as Green List (high evidence)
Hereditary ataxia with onset in adulthood v0.33 TBP_CAG Louise Daugherty Str: tbp_cag has been classified as Green List (High Evidence).
Hereditary ataxia with onset in adulthood v0.32 TBP_CAG Louise Daugherty STR: TBP_CAG was added
STR: TBP_CAG was added to Hereditary ataxia - adult onset. Sources: Expert list
STR tags were added to STR: TBP_CAG.
Mode of inheritance for STR: TBP_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: TBP_CAG were set to 20301611
Phenotypes for STR: TBP_CAG were set to Spinocerebellar ataxia 17 607136
Review for STR: TBP_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia v1.148;Brain channelopathy v1.46
Sources: Expert list
Hereditary ataxia with onset in adulthood v0.31 PPP2R2B_CAG Louise Daugherty Classified STR: PPP2R2B_CAG as Green List (high evidence)
Hereditary ataxia with onset in adulthood v0.31 PPP2R2B_CAG Louise Daugherty Str: ppp2r2b_cag has been classified as Green List (High Evidence).
Hereditary ataxia with onset in adulthood v0.30 PPP2R2B_CAG Louise Daugherty STR: PPP2R2B_CAG was added
STR: PPP2R2B_CAG was added to Hereditary ataxia - adult onset. Sources: Expert list
STR tags were added to STR: PPP2R2B_CAG.
Mode of inheritance for STR: PPP2R2B_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: PPP2R2B_CAG were set to 20301381
Phenotypes for STR: PPP2R2B_CAG were set to Spinocerebellar ataxia 12 604326
Review for STR: PPP2R2B_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia 1.148
Sources: Expert list
Hereditary ataxia with onset in adulthood v0.29 NOP56_GGCCTG Louise Daugherty Classified STR: NOP56_GGCCTG as Green List (high evidence)
Hereditary ataxia with onset in adulthood v0.29 NOP56_GGCCTG Louise Daugherty Str: nop56_ggcctg has been classified as Green List (High Evidence).
Hereditary ataxia with onset in adulthood v0.28 NOP56_GGCCTG Louise Daugherty STR: NOP56_GGCCTG was added
STR: NOP56_GGCCTG was added to Hereditary ataxia - adult onset. Sources: Expert list
STR tags were added to STR: NOP56_GGCCTG.
Mode of inheritance for STR: NOP56_GGCCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: NOP56_GGCCTG were set to Spinocerebellar ataxia 36 614153
Review for STR: NOP56_GGCCTG was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia 1.148
Sources: Expert list
Hereditary ataxia with onset in adulthood v0.27 HTT_CAG Louise Daugherty Classified STR: HTT_CAG as Green List (high evidence)
Hereditary ataxia with onset in adulthood v0.27 HTT_CAG Louise Daugherty Str: htt_cag has been classified as Green List (High Evidence).
Hereditary ataxia with onset in adulthood v0.26 HTT_CAG Louise Daugherty STR: HTT_CAG was added
STR: HTT_CAG was added to Hereditary ataxia - adult onset. Sources: Expert list
STR tags were added to STR: HTT_CAG.
Mode of inheritance for STR: HTT_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: HTT_CAG were set to Huntington disease 143100
Review for STR: HTT_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia 1.148
Sources: Expert list
Hereditary ataxia with onset in adulthood v0.25 FXN_GAA Louise Daugherty Classified STR: FXN_GAA as Green List (high evidence)
Hereditary ataxia with onset in adulthood v0.25 FXN_GAA Louise Daugherty Str: fxn_gaa has been classified as Green List (High Evidence).
Hereditary ataxia with onset in adulthood v0.24 FXN_GAA Louise Daugherty STR: FXN_GAA was added
STR: FXN_GAA was added to Hereditary ataxia - adult onset. Sources: Expert list
STR tags were added to STR: FXN_GAA.
Mode of inheritance for STR: FXN_GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for STR: FXN_GAA were set to Friedreich ataxia 229300
Review for STR: FXN_GAA was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia 1.148
Sources: Expert list
Hereditary ataxia with onset in adulthood v0.23 CSTB_CCCCGCCCCGCG Louise Daugherty Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)
Hereditary ataxia with onset in adulthood v0.23 CSTB_CCCCGCCCCGCG Louise Daugherty Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Hereditary ataxia with onset in adulthood v0.22 CSTB_CCCCGCCCCGCG Louise Daugherty STR: CSTB_CCCCGCCCCGCG was added
STR: CSTB_CCCCGCCCCGCG was added to Hereditary ataxia - adult onset. Sources: Expert list
STR tags were added to STR: CSTB_CCCCGCCCCGCG.
Mode of inheritance for STR: CSTB_CCCCGCCCCGCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for STR: CSTB_CCCCGCCCCGCG were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
Review for STR: CSTB_CCCCGCCCCGCG was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia v1.148;Brain channelopathy v1.46
Sources: Expert list
Hereditary ataxia with onset in adulthood v0.21 CACNA1A_CAG Louise Daugherty Classified STR: CACNA1A_CAG as Green List (high evidence)
Hereditary ataxia with onset in adulthood v0.21 CACNA1A_CAG Louise Daugherty Str: cacna1a_cag has been classified as Green List (High Evidence).
Hereditary ataxia with onset in adulthood v0.20 CACNA1A_CAG Louise Daugherty STR: CACNA1A_CAG was added
STR: CACNA1A_CAG was added to Hereditary ataxia - adult onset. Sources: Expert list
STR tags were added to STR: CACNA1A_CAG.
Mode of inheritance for STR: CACNA1A_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: CACNA1A_CAG were set to Spinocerebellar ataxia 6 183086
Review for STR: CACNA1A_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia v1.148;Brain channelopathy v1.46
Sources: Expert list
Hereditary ataxia with onset in adulthood v0.19 ATXN7_CAG Louise Daugherty Classified STR: ATXN7_CAG as Green List (high evidence)
Hereditary ataxia with onset in adulthood v0.19 ATXN7_CAG Louise Daugherty Str: atxn7_cag has been classified as Green List (High Evidence).
Hereditary ataxia with onset in adulthood v0.18 ATXN7_CAG Louise Daugherty STR: ATXN7_CAG was added
STR: ATXN7_CAG was added to Hereditary ataxia - adult onset. Sources: Expert list
STR tags were added to STR: ATXN7_CAG.
Mode of inheritance for STR: ATXN7_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN7_CAG were set to Spinocerebellar ataxia 7 164500
Review for STR: ATXN7_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia 1.148
Sources: Expert list
Hereditary ataxia with onset in adulthood v0.17 ATXN3_CAG Louise Daugherty Classified STR: ATXN3_CAG as Green List (high evidence)
Hereditary ataxia with onset in adulthood v0.17 ATXN3_CAG Louise Daugherty Str: atxn3_cag has been classified as Green List (High Evidence).
Hereditary ataxia with onset in adulthood v0.16 ATXN3_CAG Louise Daugherty STR: ATXN3_CAG was added
STR: ATXN3_CAG was added to Hereditary ataxia - adult onset. Sources: Expert list
STR tags were added to STR: ATXN3_CAG.
Mode of inheritance for STR: ATXN3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN3_CAG were set to Machado-Joseph disease 109150
Added comment: Source PanelApp panels : Hereditary ataxia 1.148
Sources: Expert list
Hereditary ataxia with onset in adulthood v0.15 ATXN2_CAG Louise Daugherty Classified STR: ATXN2_CAG as Green List (high evidence)
Hereditary ataxia with onset in adulthood v0.15 ATXN2_CAG Louise Daugherty Str: atxn2_cag has been classified as Green List (High Evidence).
Hereditary ataxia with onset in adulthood v0.14 ATXN2_CAG Louise Daugherty STR: ATXN2_CAG was added
STR: ATXN2_CAG was added to Hereditary ataxia - adult onset. Sources: Expert list
STR tags were added to STR: ATXN2_CAG.
Mode of inheritance for STR: ATXN2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN2_CAG were set to Spinocerebellar ataxia 2 183090
Review for STR: ATXN2_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia 1.148
Sources: Expert list
Hereditary ataxia with onset in adulthood v0.13 ATXN10_ATTCT Louise Daugherty Classified STR: ATXN10_ATTCT as Green List (high evidence)
Hereditary ataxia with onset in adulthood v0.13 ATXN10_ATTCT Louise Daugherty Str: atxn10_attct has been classified as Green List (High Evidence).
Hereditary ataxia with onset in adulthood v0.12 ATXN10_ATTCT Louise Daugherty STR: ATXN10_ATTCT was added
STR: ATXN10_ATTCT was added to Hereditary ataxia - adult onset. Sources: Expert list
STR tags were added to STR: ATXN10_ATTCT.
Mode of inheritance for STR: ATXN10_ATTCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ATXN10_ATTCT were set to 12164725
Phenotypes for STR: ATXN10_ATTCT were set to Spinocerebellar ataxia 10 603516
Review for STR: ATXN10_ATTCT was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia 1.148
Sources: Expert list
Hereditary ataxia with onset in adulthood v0.11 ATN1_CAG Louise Daugherty Publications for STR: ATN1_CAG were set to
Hereditary ataxia with onset in adulthood v0.11 ATN1_CAG Louise Daugherty Publications for STR: ATN1_CAG were set to
Hereditary ataxia with onset in adulthood v0.10 ATXN1_CAG Louise Daugherty Classified STR: ATXN1_CAG as Green List (high evidence)
Hereditary ataxia with onset in adulthood v0.10 ATXN1_CAG Louise Daugherty Str: atxn1_cag has been classified as Green List (High Evidence).
Hereditary ataxia with onset in adulthood v0.9 ATXN1_CAG Louise Daugherty STR: ATXN1_CAG was added
STR: ATXN1_CAG was added to Hereditary ataxia - adult onset. Sources: Expert list
STR tags were added to STR: ATXN1_CAG.
Mode of inheritance for STR: ATXN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN1_CAG were set to Spinocerebellar ataxia 1 164400
Review for STR: ATXN1_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia 1.148
Sources: Expert list
Hereditary ataxia with onset in adulthood v0.8 ATN1_CAG Louise Daugherty Phenotypes for STR: ATN1_CAG were changed from entatorubro-pallidoluysian atrophy 125370 to Dentatorubro-pallidoluysian atrophy 125370
Hereditary ataxia with onset in adulthood v0.7 ATN1_CAG Louise Daugherty Classified STR: ATN1_CAG as Green List (high evidence)
Hereditary ataxia with onset in adulthood v0.7 ATN1_CAG Louise Daugherty Str: atn1_cag has been classified as Green List (High Evidence).
Hereditary ataxia with onset in adulthood v0.6 ATN1_CAG Louise Daugherty STR: ATN1_CAG was added
STR: ATN1_CAG was added to Hereditary ataxia - adult onset. Sources: Expert list
STR tags were added to STR: ATN1_CAG.
Mode of inheritance for STR: ATN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATN1_CAG were set to entatorubro-pallidoluysian atrophy 125370
Review for STR: ATN1_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia 1.148, Brain channelopathy 1.46
Sources: Expert list
Primary ciliary disorders v1.14 LZTFL1 Eleanor Williams commented on gene: LZTFL1
Likely inborn error of metabolism v0.24 ISCA-37440-Loss Louise Daugherty Deleted their review
Likely inborn error of metabolism v0.24 ISCA-37440-Loss Louise Daugherty Deleted their comment
Likely inborn error of metabolism v0.24 ISCA-37440-Loss Louise Daugherty commented on Region: ISCA-37440-Loss
Likely inborn error of metabolism v0.24 FXN_GAA Louise Daugherty Classified STR: FXN_GAA as Green List (high evidence)
Likely inborn error of metabolism v0.24 FXN_GAA Louise Daugherty Str: fxn_gaa has been classified as Green List (High Evidence).
Likely inborn error of metabolism v0.23 FXN_GAA Louise Daugherty STR: FXN_GAA was added
STR: FXN_GAA was added to Inborn errors of metabolism. Sources: Expert list
STR tags were added to STR: FXN_GAA.
Mode of inheritance for STR: FXN_GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for STR: FXN_GAA were set to Friedreich ataxia 229300
Review for STR: FXN_GAA was set to GREEN
Added comment: Source PanelApp panels : Mitochondrial disorders v1.86
Sources: Expert list
Likely inborn error of metabolism v0.22 DMPK_CTG Louise Daugherty Classified STR: DMPK_CTG as Green List (high evidence)
Likely inborn error of metabolism v0.22 DMPK_CTG Louise Daugherty Str: dmpk_ctg has been classified as Green List (High Evidence).
Likely inborn error of metabolism v0.21 DMPK_CTG Louise Daugherty STR: DMPK_CTG was added
STR: DMPK_CTG was added to Inborn errors of metabolism. Sources: Expert list
STR tags were added to STR: DMPK_CTG.
Mode of inheritance for STR: DMPK_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: DMPK_CTG were set to Myotonic dystrophy 1 160900
Review for STR: DMPK_CTG was set to GREEN
Added comment: Source PanelApp panels : Mitochondrial disorders v1.86
Sources: Expert list
Adult onset neurodegenerative disorder v0.79 AR_CAG Louise Daugherty Classified STR: AR_CAG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.79 AR_CAG Louise Daugherty Str: ar_cag has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.78 AR_CAG Louise Daugherty edited their review of STR: AR_CAG: Changed rating: GREEN
Adult onset neurodegenerative disorder v0.78 AR_CAG Louise Daugherty STR: AR_CAG was added
STR: AR_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list
STR tags were added to STR: AR_CAG.
Mode of inheritance for STR: AR_CAG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for STR: AR_CAG were set to Spinal and bulbar muscular atrophy or Kennedy diseases 313200
Added comment: Source PanelApp panels : Amyotrophic lateral sclerosis/motor neuron disease v1.26
Sources: Expert list
Adult onset neurodegenerative disorder v0.77 ATN1_CAG Louise Daugherty Classified STR: ATN1_CAG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.77 ATN1_CAG Louise Daugherty Str: atn1_cag has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.76 ATN1_CAG Louise Daugherty STR: ATN1_CAG was added
STR: ATN1_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list
STR tags were added to STR: ATN1_CAG.
Mode of inheritance for STR: ATN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ATN1_CAG were set to 20301664; 8136840; 20301664; 8136840; 8136826; 7614090
Phenotypes for STR: ATN1_CAG were set to Dentatorubro-pallidoluysian atrophy 125370
Review for STR: ATN1_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia v1.150, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.46, Brain channelopathy v1.48, Parkinson Disease and Complex Parkinsonism v1.64.
Sources: Expert list
Adult onset neurodegenerative disorder v0.75 ATXN10_ATTCT Louise Daugherty Classified STR: ATXN10_ATTCT as Green List (high evidence)
Adult onset neurodegenerative disorder v0.75 ATXN10_ATTCT Louise Daugherty Str: atxn10_attct has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.74 ATXN10_ATTCT Louise Daugherty STR: ATXN10_ATTCT was added
STR: ATXN10_ATTCT was added to Neurodegenerative disorders - adult onset. Sources: Expert list
STR tags were added to STR: ATXN10_ATTCT.
Mode of inheritance for STR: ATXN10_ATTCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN10_ATTCT were set to Spinocerebellar ataxia 10 603516
Review for STR: ATXN10_ATTCT was set to GREEN
Added comment: Source PanelApp panels :Hereditary spastic paraplegia v1.143, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.46, Hereditary ataxia v1.150
Sources: Expert list
Adult onset neurodegenerative disorder v0.73 ATXN1_CAG Louise Daugherty Classified STR: ATXN1_CAG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.73 ATXN1_CAG Louise Daugherty Str: atxn1_cag has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.72 ATXN1_CAG Louise Daugherty STR: ATXN1_CAG was added
STR: ATXN1_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list
STR tags were added to STR: ATXN1_CAG.
Mode of inheritance for STR: ATXN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN1_CAG were set to Spinocerebellar ataxia 1 164400
Review for STR: ATXN1_CAG was set to GREEN
Added comment: Source PanelApp panels :Hereditary ataxia v1.150, Hereditary spastic paraplegia v1.143, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.46, Parkinson Disease and Complex Parkinsonism v1.64.
Sources: Expert list
Adult onset neurodegenerative disorder v0.71 ATXN2_CAG Louise Daugherty Classified STR: ATXN2_CAG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.71 ATXN2_CAG Louise Daugherty Str: atxn2_cag has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.70 ATXN2_CAG Louise Daugherty STR: ATXN2_CAG was added
STR: ATXN2_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list
STR tags were added to STR: ATXN2_CAG.
Mode of inheritance for STR: ATXN2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN2_CAG were set to Spinocerebellar ataxia 2 183090
Review for STR: ATXN2_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia v1.150, Hereditary spastic paraplegia v1.143, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.46, Early onset dystonia v1.76, Parkinson Disease and Complex Parkinsonism v1.64.
Sources: Expert list
Adult onset neurodegenerative disorder v0.68 ANO10 Louise Daugherty Phenotypes for gene: ANO10 were changed from Spinocerebellar ataxia, autosomal recessive 10, to Spinocerebellar ataxia, autosomal recessive 10, 613728
Adult onset neurodegenerative disorder v0.67 ALS2 Louise Daugherty Phenotypes for gene: ALS2 were changed from 607225; Primary lateral sclerosis, juvenile, 606353; Spastic paralysis, infantile onset ascending, 607225; Amyotrophic lateral sclerosis 2, juvenile, 205100; Amyotrophic Lateral Sclerosis, Recessive to Primary lateral sclerosis, juvenile, 606353; Spastic paralysis, infantile onset ascending, 607225; Amyotrophic lateral sclerosis 2, juvenile, 205100; Amyotrophic Lateral Sclerosis, Recessive
Adult onset neurodegenerative disorder v0.66 ATXN3_CAG Louise Daugherty Classified STR: ATXN3_CAG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.66 ATXN3_CAG Louise Daugherty Str: atxn3_cag has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.65 ATXN3_CAG Louise Daugherty STR: ATXN3_CAG was added
STR: ATXN3_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list
STR tags were added to STR: ATXN3_CAG.
Mode of inheritance for STR: ATXN3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN3_CAG were set to Machado-Joseph disease 109150
Review for STR: ATXN3_CAG was set to GREEN
Added comment: Source PanelApp panels : Early onset dystonia v1.76, Parkinson Disease and Complex Parkinsonism v1.64, Hereditary ataxia v1.150, Hereditary spastic paraplegia v1.143.
Sources: Expert list
Other rare neuromuscular disorders v0.29 CHCHD10 Louise Daugherty Phenotypes for gene: CHCHD10 were changed from Spinal muscular atrophy, Jokela type 615048; Spinal muscular atrophy, Jokela type 615048; ?Myopathy, isolated mitochondrial, autosomal dominant 616209; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911 to Spinal muscular atrophy, Jokela type 615048; ?Myopathy, isolated mitochondrial, autosomal dominant 616209; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911
Adult onset neurodegenerative disorder v0.64 CSTB_CCCCGCCCCGCG Louise Daugherty Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.64 CSTB_CCCCGCCCCGCG Louise Daugherty Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.63 CSTB_CCCCGCCCCGCG Louise Daugherty STR: CSTB_CCCCGCCCCGCG was added
STR: CSTB_CCCCGCCCCGCG was added to Neurodegenerative disorders - adult onset. Sources: Expert list
STR tags were added to STR: CSTB_CCCCGCCCCGCG.
Mode of inheritance for STR: CSTB_CCCCGCCCCGCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for STR: CSTB_CCCCGCCCCGCG were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
Review for STR: CSTB_CCCCGCCCCGCG was set to GREEN
Added comment: Source PanelApp panels : Brain channelopathy v1.48, Hereditary ataxia v1.150.
Sources: Expert list
Adult onset neurodegenerative disorder v0.62 FXN_GAA Louise Daugherty Classified STR: FXN_GAA as Green List (high evidence)
Adult onset neurodegenerative disorder v0.62 FXN_GAA Louise Daugherty Str: fxn_gaa has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.61 FXN_GAA Louise Daugherty STR: FXN_GAA was added
STR: FXN_GAA was added to Neurodegenerative disorders - adult onset. Sources: Expert list
STR tags were added to STR: FXN_GAA.
Mode of inheritance for STR: FXN_GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for STR: FXN_GAA were set to Friedreich ataxia 229300
Review for STR: FXN_GAA was set to GREEN
Added comment: Source PanelApp panels : Hereditary spastic paraplegia v1.143, Hereditary ataxia v1.150
Sources: Expert list
Hereditary spastic paraplegia v1.144 FXN_GAA Louise Daugherty Pathogenic Number of Repeats for FXN_GAA was changed from 63 to 66.
Adult onset neurodegenerative disorder v0.60 HTT_CAG Louise Daugherty Classified STR: HTT_CAG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.60 HTT_CAG Louise Daugherty Str: htt_cag has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.60 HTT_CAG Louise Daugherty Classified STR: HTT_CAG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.60 HTT_CAG Louise Daugherty Str: htt_cag has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.59 HTT_CAG Louise Daugherty STR: HTT_CAG was added
STR: HTT_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list
STR tags were added to STR: HTT_CAG.
Mode of inheritance for STR: HTT_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: HTT_CAG were set to Huntington disease 143100
Review for STR: HTT_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary spastic paraplegia v1.143, Parkinson Disease and Complex Parkinsonism v1.64, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.46, Hereditary ataxia v1.150
Sources: Expert list
Intellectual disability v2.588 KARS Zornitza Stark Deleted their comment
Intellectual disability v2.588 KARS Zornitza Stark Deleted their comment
Intellectual disability v2.588 KARS Zornitza Stark Deleted their comment
Intellectual disability v2.588 KARS Zornitza Stark Deleted their comment
Intellectual disability v2.588 KARS Zornitza Stark commented on gene: KARS: At least 6 individuals reported with a childhood-onset disorder characterised by intellectual disability, seizures, leucoencephalopathy, microcephaly and bi-allelic variants in this gene.
Intellectual disability v2.588 KARS Zornitza Stark commented on gene: KARS: At least 6 individuals reported with childhood-onset intellectual disability, seizures, leucoencephalopathy, microcephaly.
Intellectual disability v2.588 KARS Zornitza Stark commented on gene: KARS: At least 6 patients reported with a childhood-onset disorder, characterised by intellectual disability, seizures, leucoencephalopathy, and microcephaly.
Intellectual disability v2.588 KARS Zornitza Stark commented on gene: KARS: At least 6 individuals reported with childhood-onset intellectual disability, seizures, leucoencephalopathy, microcephaly.
Intellectual disability v2.588 KARS Zornitza Stark reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28887846, 25330800, 29615062, 30252186, 28496994; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disorders v1.86 KARS Zornitza Stark reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28887846, 25330800, 29615062, 30252186, 28496994; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary neuropathy v1.49 KARS Zornitza Stark reviewed gene: KARS: Rating: RED; Mode of pathogenicity: None; Publications: 20920668; Phenotypes: CMT; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.588 FAH Konstantinos Varvagiannis reviewed gene: FAH: Rating: AMBER; Mode of pathogenicity: None; Publications: 28377889; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.588 HEPACAM Konstantinos Varvagiannis reviewed gene: HEPACAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 21419380; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability v2.588 ABAT Konstantinos Varvagiannis reviewed gene: ABAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 28411234; Phenotypes: GABA-transaminase deficiency (MIM 613163); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability v2.588 ABAT Konstantinos Varvagiannis Deleted their review
Intellectual disability v2.588 ABAT Konstantinos Varvagiannis reviewed gene: ABAT: Rating: AMBER; Mode of pathogenicity: None; Publications: 28411234; Phenotypes: GABA-transaminase deficiency (MIM 613163); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Early onset or syndromic epilepsy v1.6 SMARCC2 Konstantinos Varvagiannis gene: SMARCC2 was added
gene: SMARCC2 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: SMARCC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMARCC2 were set to 27392482
Phenotypes for gene: SMARCC2 were set to Hypotonia; Feeding difficulties; Global developmental delay; Intellectual disability; Behavioral abnormality; Abnormality of head or neck; Seizures
Penetrance for gene: SMARCC2 were set to unknown
Review for gene: SMARCC2 was set to AMBER
Added comment: Gene present in the ID panel :

Machol et al. (https://doi.org/10.1016/j.ajhg.2018.11.007) report on 15 unrelated individuals with heterozygous pathogenic SMARCC2 variants.

SMARCC2 (BAF170) is one of the subunits of the chromatin remodeling BAF complex and the phenotype of these subjects resembled the phenotype of other "BAFopathies", notably Coffin-Siris and Nicolaides-Baraitser syndrome. DD and/or ID were universal features (a few individuals were too young). Other common features included speech impairment, hypotonia, feeding problems, behavioral anomalies as well as some overlapping facial features (similar to other BAFopathies).

** Seizures were noted in 4/15 individuals. **

8 missense variants, 1 in-frame deletion, 4 splice-site variants, 1 frameshift and 1 nonsense variant are reported. De novo occurrence was the case for 12 of these variants while for 2 individuals one/both parents were unavailable. One subject with mild DD had inherited a nonsense variant from his affected father (with borderline ID) in whom the mutation had occurred as a de novo event.

Several of the missense variants (but not all) clustered in the SANT domain, while individuals with the specific variants seemed to present with a more severe phenotype.

The de novo in-frame deletion, which was observed in one mildly affected individual, has been reported once in gnomAD.

Exon skipping was demonstrated for 1 splice-site variant while expression studies for another splice-site variant showed reduced mRNA expression. mRNA expression was normal for the in-frame deletion.

Similarly to what has been observed in other disorders of this group, some mutations are thought to act through a dominant-negative mechanism.

Transcriptome analysis in fibroblasts from affected individuals suggested the presence of a group of differentially expressed genes possibly involved in regulation of neuronal development/function.

As the authors note, studies in Smarcc2-deficient mice suggest a role in learning as well as behavioral adaptation (PMID: 27392482).

SMARCC2 is not associated with any phenotype in OMIM, nor in G2P.

As a result, this gene should be considered for inclusion in this panel as amber (or green).
Sources: Literature
Intellectual disability v2.588 SMARCC2 Konstantinos Varvagiannis reviewed gene: SMARCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27392482; Phenotypes: Hypotonia, Feeding difficulties, Global developmental delay, Intellectual disability, Behavioral abnormality, Abnormality of head or neck; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Familial diabetes v1.15 PLIN1 Louise Daugherty Publications for gene: PLIN1 were set to 21345103
Familial diabetes v1.14 PLIN1 Louise Daugherty Classified gene: PLIN1 as Amber List (moderate evidence)
Familial diabetes v1.14 PLIN1 Louise Daugherty Added comment: Comment on list classification: This gene was downgraded from Green to Amber due to the findings of PMID: 30020498 - variants in this gene predicted to cause haplosufficiency are not a cause of familial partial lipodystrophy.
Familial diabetes v1.14 PLIN1 Louise Daugherty Gene: plin1 has been classified as Amber List (Moderate Evidence).
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.57 PLIN1 Louise Daugherty Publications for gene: PLIN1 were set to 21345103
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.56 PLIN1 Louise Daugherty Classified gene: PLIN1 as Amber List (moderate evidence)
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.56 PLIN1 Louise Daugherty Added comment: Comment on list classification: This gene was downgraded from Green to Amber due to the findings of PMID: 30020498 - variants in this gene predicted to cause haplosufficiency are not a cause of familial partial lipodystrophy.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.56 PLIN1 Louise Daugherty Gene: plin1 has been classified as Amber List (Moderate Evidence).
Insulin resistance (including lipodystrophy) v1.6 PLIN1 Louise Daugherty Publications for gene: PLIN1 were set to 25114292; 21345103
Insulin resistance (including lipodystrophy) v1.5 PLIN1 Louise Daugherty Classified gene: PLIN1 as Amber List (moderate evidence)
Insulin resistance (including lipodystrophy) v1.5 PLIN1 Louise Daugherty Added comment: Comment on list classification: This gene was downgraded from Green to Amber due to the findings of PMID: 30020498 - variants in this gene predicted to cause haplosufficiency are not a cause of familial partial lipodystrophy.
Insulin resistance (including lipodystrophy) v1.5 PLIN1 Louise Daugherty Gene: plin1 has been classified as Amber List (Moderate Evidence).
Monogenic diabetes v0.6 PLIN1 Louise Daugherty Publications for gene: PLIN1 were set to 21345103
Monogenic diabetes v0.5 PLIN1 Louise Daugherty Classified gene: PLIN1 as Amber List (moderate evidence)
Monogenic diabetes v0.5 PLIN1 Louise Daugherty Added comment: Comment on list classification: This gene was downgraded from Green to Amber due to the findings of PMID: 30020498 - variants in this gene predicted to cause haplosufficiency are not a cause of familial partial lipodystrophy.
Monogenic diabetes v0.5 PLIN1 Louise Daugherty Gene: plin1 has been classified as Amber List (Moderate Evidence).
Other rare neuromuscular disorders v0.28 AR_CAG Louise Daugherty Classified STR: AR_CAG as Green List (high evidence)
Other rare neuromuscular disorders v0.28 AR_CAG Louise Daugherty Str: ar_cag has been classified as Green List (High Evidence).
Other rare neuromuscular disorders v0.27 AR_CAG Louise Daugherty STR: AR_CAG was added
STR: AR_CAG was added to Neuromuscular disorders. Sources: Expert list
STR tags were added to STR: AR_CAG.
Mode of inheritance for STR: AR_CAG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for STR: AR_CAG were set to Spinal and bulbar muscular atrophy or Kennedy diseases 313200
Review for STR: AR_CAG was set to GREEN
Added comment: Source PanelApp panels : Congenital myopathy v1.67, Distal myopathies v1.10
Sources: Expert list
Other rare neuromuscular disorders v0.26 ISCA-37478-Loss Ellen McDonagh Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 7611294; 22045295
Phenotypes for Region: ISCA-37478-Loss were set to microcephaly; Developmental delay, muscle weakness; 176270; Angelman syndrome; Prader-Willi syndrome; 105830; Mental retardation
Other rare neuromuscular disorders v0.26 ISCA-37429-Loss Ellen McDonagh Region: ISCA-37429-Loss was added
Region: ISCA-37429-Loss was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37429-Loss were set to 14630905; 20026556
Phenotypes for Region: ISCA-37429-Loss were set to 194190; Wolf-Hirschhorn syndrome
Other rare neuromuscular disorders v0.26 ISCA-37420-Loss Ellen McDonagh Region: ISCA-37420-Loss was added
Region: ISCA-37420-Loss was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37420-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37420-Loss were set to 18628315; 25217958
Phenotypes for Region: ISCA-37420-Loss were set to PMID: 25217958; PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies; 610443; Koolen-De Vries syndrome 610443
Other rare neuromuscular disorders v0.26 ISCA-37408-Loss Ellen McDonagh Region: ISCA-37408-Loss was added
Region: ISCA-37408-Loss was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37408-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37408-Loss were set to 18245392; 22579565; 16963482
Phenotypes for Region: ISCA-37408-Loss were set to PMID: 22579565 severe developmental delay, congenital microcephaly, intractable epilepsy, and renal anomalies, as well as a congenital choledochal cyst which has not been previously reported in other patients with this cytogenetic defect; 612513; PMID: 16963482 idiopathic intellectual disability including moderate to severe intellectual disability, autism/autistic features, microcephaly, structural brain anomalies including cortical dysplasia/pachygyria, renal anomalies (multicystic kidney, hydronephrosis), digital camptodactyly, visual impairment, strabismus, neuromotor deficits, communication and attention impairments, and a distinctive pattern of craniofacial features. Dysmorphic craniofacial features include progressive microcephaly, flat occiput, widened inner canthal distance, small palpebral fissures, ptosis, long and straight eyelashes, broad and high nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips. PMID: 18245392 A 32-year-old, mentally retarded male was referred to our centre for further clinical genetic analysis. He was born to non-consanguineous parents after 42 weeks gestation with a birth weight of 3500 g. He had a healthy older brother. In the neonatal period he was hypotonic and at 8 weeks of age he underwent surgery because of an inguinal hernia with removal of an atrophic right testis. His motor development was severely delayed with sitting at 3.5 years and walking at 5 years of age. Speech was poorly developed, characterised by the usage of only a few words. During infancy an optic nerve hypoplasia was diagnosed, and during childhood he frequently suffered from luxations of the patellae, which required surgery. At the age of 32 years his height is 163 cm (_3 SDS) and head circumference 52.5 cm (_2.5 SDS). He has a narrow receding forehead, widened inner canthal distance of 3.5 cm (90th centile), normal outer canthal distance of 8.5 cm (25th centile), telecanthus, short and down slanting palpebral fissures, epicanthal folds, ptosis, long, straight eyelashes, high nasal bridge, low set large ears, flat philtrum, small mouth with high, narrow palate and retrognathia. The thorax is broad with increased internipple distance and slight gynaecomastia. A recent renal ultrasound revealed multiple cysts in the left, dystrophic kidney and two uncomplicated cysts in the enlarged, right kidney. The patient has a normally sized phallus with absent right testis and small left testis. His hands show a simian crease right and tapering fingers with broad proximal interphalangeal joints. He shows sandal gaps on both flat feet with clinodactyly of the fourth and fifth toes (and more)
Other rare neuromuscular disorders v0.26 ISCA-37404-Loss Ellen McDonagh Region: ISCA-37404-Loss was added
Region: ISCA-37404-Loss was added to Neuromuscular disorders. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37404-Loss were set to 7611294; 22045295
Phenotypes for Region: ISCA-37404-Loss were set to microcephaly; Developmental delay, muscle weakness; 176270; 105833; Angelman syndrome; Prader-Willi syndrome; Mental retardation
Hereditary spastic paraplegia v1.143 FXN_GAA Louise Daugherty GRCh38 position for FXN_GAA was changed from 69037287-69037303 to 69037287-69037304.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Intellectual disability v2.588 CSTB_CCCCGCCCCGCG Louise Daugherty GRCh38 position for CSTB_CCCCGCCCCGCG was changed from 43776447-43776470 to 43776429-43776470.
Hereditary ataxia v1.150 CSTB_CCCCGCCCCGCG Louise Daugherty GRCh38 position for CSTB_CCCCGCCCCGCG was changed from 43776447-43776470 to 43776429-43776470.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Brain channelopathy v1.48 CSTB_CCCCGCCCCGCG Louise Daugherty GRCh38 position for CSTB_CCCCGCCCCGCG was changed from 43776447-43776470 to 43776429-43776470.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Brain channelopathy v1.47 ATN1_CAG Louise Daugherty GRCh38 position for ATN1_CAG was changed from 6936717-6936773 to 6936717-6936772.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.46 ATN1_CAG Louise Daugherty GRCh38 position for ATN1_CAG was changed from 6936717-6936773 to 6936717-6936772.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v1.6 ATN1_CAG Louise Daugherty GRCh38 position for ATN1_CAG was changed from 6936717-6936742 to 6936717-6936772.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary ataxia v1.149 ATN1_CAG Louise Daugherty GRCh38 position for ATN1_CAG was changed from 6936717-6936773 to 6936717-6936772.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary spastic paraplegia v1.142 HTT_CAG Louise Daugherty GRCh38 position for HTT_CAG was changed from 3074875-3074939 to 3074877-3074939.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Adult onset neurodegenerative disorder v0.58 ATXN7_CAG Louise Daugherty Classified STR: ATXN7_CAG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.58 ATXN7_CAG Louise Daugherty Str: atxn7_cag has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.57 ATXN7_CAG Louise Daugherty STR: ATXN7_CAG was added
STR: ATXN7_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list
STR tags were added to STR: ATXN7_CAG.
Mode of inheritance for STR: ATXN7_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN7_CAG were set to Spinocerebellar ataxia 7 164500
Review for STR: ATXN7_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary spastic paraplegia v1.141, Hereditary ataxia v1.148.
Sources: Expert list
Adult onset neurodegenerative disorder v0.56 C9orf72_GGGGCC Louise Daugherty Classified STR: C9orf72_GGGGCC as Green List (high evidence)
Adult onset neurodegenerative disorder v0.56 C9orf72_GGGGCC Louise Daugherty Str: c9orf72_ggggcc has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.55 C9orf72_GGGGCC Louise Daugherty STR: C9orf72_GGGGCC was added
STR: C9orf72_GGGGCC was added to Neurodegenerative disorders - adult onset. Sources: Expert list
STR tags were added to STR: C9orf72_GGGGCC.
Mode of inheritance for STR: C9orf72_GGGGCC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: C9orf72_GGGGCC were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550
Review for STR: C9orf72_GGGGCC was set to GREEN
Added comment: Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.45, Amyotrophic lateral sclerosis/motor neuron disease v1.26
Sources: Expert list
Adult onset neurodegenerative disorder v0.54 CACNA1A_CAG Louise Daugherty Classified STR: CACNA1A_CAG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.54 CACNA1A_CAG Louise Daugherty Str: cacna1a_cag has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.53 CACNA1A_CAG Louise Daugherty STR: CACNA1A_CAG was added
STR: CACNA1A_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list
STR tags were added to STR: CACNA1A_CAG.
Mode of inheritance for STR: CACNA1A_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: CACNA1A_CAG were set to Spinocerebellar ataxia 6 183086
Review for STR: CACNA1A_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia v1.148, Brain channelopathy v1.46, Hereditary spastic paraplegia v1.141.
Sources: Expert list
Fetal anomalies v0.34 Rebecca Foulger Panel status changed from internal to public
Adult onset neurodegenerative disorder v0.52 JPH3_CTG Louise Daugherty Classified STR: JPH3_CTG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.52 JPH3_CTG Louise Daugherty Str: jph3_ctg has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.51 JPH3_CTG Louise Daugherty STR: JPH3_CTG was added
STR: JPH3_CTG was added to Neurodegenerative disorders - adult onset. Sources: Expert list
STR tags were added to STR: JPH3_CTG.
Mode of inheritance for STR: JPH3_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: JPH3_CTG were set to Huntington disease-like 2 606438
Review for STR: JPH3_CTG was set to GREEN
Added comment: Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.45, Early onset dystonia v1.76.
Sources: Expert list
Adult onset neurodegenerative disorder v0.50 NOP56_GGCCTG Louise Daugherty Classified STR: NOP56_GGCCTG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.50 NOP56_GGCCTG Louise Daugherty Str: nop56_ggcctg has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.50 NOP56_GGCCTG Louise Daugherty Classified STR: NOP56_GGCCTG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.50 NOP56_GGCCTG Louise Daugherty Str: nop56_ggcctg has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.49 NOP56_GGCCTG Louise Daugherty STR: NOP56_GGCCTG was added
STR: NOP56_GGCCTG was added to Neurodegenerative disorders - adult onset. Sources: Expert list
STR tags were added to STR: NOP56_GGCCTG.
Mode of inheritance for STR: NOP56_GGCCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: NOP56_GGCCTG were set to Spinocerebellar ataxia 36 614153
Review for STR: NOP56_GGCCTG was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia v1.148, Amyotrophic lateral sclerosis/motor neuron disease v1.26, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.45.
Sources: Expert list
Adult onset neurodegenerative disorder v0.47 ABCD1 Rebecca Foulger Classified gene: ABCD1 as Red List (low evidence)
Adult onset neurodegenerative disorder v0.47 ABCD1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Red, to include gene on merged panel. Gene still requires review/curator evaluation for a final rating.
Adult onset neurodegenerative disorder v0.47 ABCD1 Rebecca Foulger Gene: abcd1 has been classified as Red List (Low Evidence).
Adult onset neurodegenerative disorder v0.46 ARG1 Rebecca Foulger Classified gene: ARG1 as Red List (low evidence)
Adult onset neurodegenerative disorder v0.46 ARG1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Red, to include gene on merged panel. Gene still requires review/curator evaluation for a final rating.
Adult onset neurodegenerative disorder v0.46 ARG1 Rebecca Foulger Gene: arg1 has been classified as Red List (Low Evidence).
Adult onset neurodegenerative disorder v0.45 DARS Rebecca Foulger Classified gene: DARS as Red List (low evidence)
Adult onset neurodegenerative disorder v0.45 DARS Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Red, to include gene on merged panel. Gene still requires review/curator evaluation for a final rating.
Adult onset neurodegenerative disorder v0.45 DARS Rebecca Foulger Gene: dars has been classified as Red List (Low Evidence).
Adult onset neurodegenerative disorder v0.44 ERLIN1 Rebecca Foulger Classified gene: ERLIN1 as Red List (low evidence)
Adult onset neurodegenerative disorder v0.44 ERLIN1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Red, to include gene on merged panel. Gene still requires review/curator evaluation for a final rating.
Adult onset neurodegenerative disorder v0.44 ERLIN1 Rebecca Foulger Gene: erlin1 has been classified as Red List (Low Evidence).
Adult onset neurodegenerative disorder v0.43 HACE1 Rebecca Foulger Classified gene: HACE1 as Red List (low evidence)
Adult onset neurodegenerative disorder v0.43 HACE1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Red, to include gene on merged panel. Gene still requires review/curator evaluation for a final rating.
Adult onset neurodegenerative disorder v0.43 HACE1 Rebecca Foulger Gene: hace1 has been classified as Red List (Low Evidence).
Adult onset neurodegenerative disorder v0.42 KDM5C Rebecca Foulger Classified gene: KDM5C as Red List (low evidence)
Adult onset neurodegenerative disorder v0.42 KDM5C Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Red, to include gene on merged panel. Gene still requires review/curator evaluation for a final rating.
Adult onset neurodegenerative disorder v0.42 KDM5C Rebecca Foulger Gene: kdm5c has been classified as Red List (Low Evidence).
Adult onset neurodegenerative disorder v0.41 KLC4 Rebecca Foulger Classified gene: KLC4 as Red List (low evidence)
Adult onset neurodegenerative disorder v0.41 KLC4 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Red, to include gene on merged panel. Gene still requires review/curator evaluation for a final rating.
Adult onset neurodegenerative disorder v0.41 KLC4 Rebecca Foulger Gene: klc4 has been classified as Red List (Low Evidence).
Adult onset neurodegenerative disorder v0.40 RAB3GAP2 Rebecca Foulger Classified gene: RAB3GAP2 as Red List (low evidence)
Adult onset neurodegenerative disorder v0.40 RAB3GAP2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Red, to include gene on merged panel. Gene still requires review/curator evaluation for a final rating.
Adult onset neurodegenerative disorder v0.40 RAB3GAP2 Rebecca Foulger Gene: rab3gap2 has been classified as Red List (Low Evidence).
Ectodermal dysplasia v0.2 Ellen McDonagh Panel types changed to GMS Rare Disease; Component Of Super Panel
Epidermolysis bullosa and congenital skin fragility v0.2 Ellen McDonagh Panel types changed to GMS Rare Disease; Component Of Super Panel
Ichthyosis and erythrokeratoderma v0.2 Ellen McDonagh Panel types changed to GMS Rare Disease; Component Of Super Panel
Palmoplantar keratodermas v0.2 Ellen McDonagh Panel types changed to GMS Rare Disease; Component Of Super Panel
Autosomal recessive primary hypertrophic osteoarthropathy v0.2 Ellen McDonagh Panel types changed to GMS Rare Disease; Component Of Super Panel
Multiple monogenic benign skin tumours v0.2 Ellen McDonagh Panel types changed to GMS Rare Disease; Component Of Super Panel
Pigmentary skin disorders v0.2 Ellen McDonagh Panel types changed to GMS Rare Disease; Component Of Super Panel
Cutaneous photosensitivity with a likely genetic cause v0.2 Ellen McDonagh Panel types changed to GMS Rare Disease; Component Of Super Panel
Epidermodysplasia verruciformis v0.2 Ellen McDonagh Panel types changed to GMS Rare Disease; Component Of Super Panel
Vascular skin disorders v0.2 Ellen McDonagh Panel types changed to GMS Rare Disease; Component Of Super Panel
Mosaic skin disorders - deep sequencing v0.2 Ellen McDonagh Panel types changed to GMS Rare Disease; Component Of Super Panel
Rare genetic inflammatory skin disorders v0.2 Ellen McDonagh Panel types changed to GMS Rare Disease; Component Of Super Panel
Cerebral malformation v1.1 Ellen McDonagh Changed child panels to: Malformations of cortical development; Rare multisystem ciliopathy disorders; Hydrocephalus; Holoprosencephaly; Segmental overgrowth disorders; Ataxia and cerebellar anomalies - narrow panel
Segmental overgrowth disorders - Deep sequencing v1.7 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel
Holoprosencephaly - NOT chromosomal v1.11 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel
Hydrocephalus v1.28 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel
Cerebral malformation v1.0 Ellen McDonagh promoted panel to version 1.0
Cerebral malformation v0.10 Ellen McDonagh Panel status changed from public to internal
Hypotonic infant v1.1 Ellen McDonagh Changed child panels to: Intellectual disability; Neuromuscular disorders; Inborn errors of metabolism
Other rare neuromuscular disorders v0.25 Ellen McDonagh Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel
Hereditary ataxia and cerebellar anomalies - childhood onset v1.1 Ellen McDonagh Changed child panels to: Rare multisystem ciliopathy disorders; Inborn errors of metabolism; Ataxia and cerebellar anomalies - narrow panel
Hypotonic infant v1.0 Ellen McDonagh promoted panel to version 1.0
Hypotonic infant v0.12 Ellen McDonagh Panel status changed from public to internal
Adult onset neurodegenerative disorder v0.39 PPP2R2B_CAG Louise Daugherty Classified STR: PPP2R2B_CAG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.39 PPP2R2B_CAG Louise Daugherty Str: ppp2r2b_cag has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.38 PPP2R2B_CAG Louise Daugherty STR: PPP2R2B_CAG was added
STR: PPP2R2B_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list
STR tags were added to STR: PPP2R2B_CAG.
Mode of inheritance for STR: PPP2R2B_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: PPP2R2B_CAG were set to 20301381
Phenotypes for STR: PPP2R2B_CAG were set to Spinocerebellar ataxia 12 604326
Review for STR: PPP2R2B_CAG was set to GREEN
Added comment: Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64, Hereditary spastic paraplegia v1.141, Hereditary ataxia v1.148
Sources: Expert list
Cystic renal disease v1.1 Ellen McDonagh Changed child panels to: Rare multisystem ciliopathy disorders; Cystic kidney disease
Paediatric disorders v1.1 Ellen McDonagh Changed child panels to: Intellectual disability; Skeletal dysplasia; Rare multisystem ciliopathy disorders; Familial non syndromic congenital heart disease; VACTERL-like phenotypes; Limb disorders; Non-syndromic familial congenital anorectal malformations; DDG2P; Inborn errors of metabolism
Hereditary ataxia and cerebellar anomalies - childhood onset v1.0 Ellen McDonagh promoted panel to version 1.0
Hereditary ataxia and cerebellar anomalies - childhood onset v0.11 Ellen McDonagh Panel status changed from public to internal
Non-syndromic familial congenital anorectal malformations v1.1 Ellen McDonagh Panel types changed to Rare Disease 100K; Component Of Super Panel
Limb disorders v1.4 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel
VACTERL-like phenotypes v1.23 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; Component Of Super Panel
Familial non syndromic congenital heart disease v1.38 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel
Rare multisystem ciliopathy disorders v1.83 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel
Skeletal dysplasia v1.138 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel
Cystic renal disease v1.0 Ellen McDonagh promoted panel to version 1.0
Adult onset neurodegenerative disorder v0.37 TBP_CAG Louise Daugherty Classified STR: TBP_CAG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.37 TBP_CAG Louise Daugherty Str: tbp_cag has been classified as Green List (High Evidence).
Cystic renal disease v0.14 Ellen McDonagh Panel status changed from public to internal
Adult onset neurodegenerative disorder v0.36 TBP_CAG Louise Daugherty STR: TBP_CAG was added
STR: TBP_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list
STR tags were added to STR: TBP_CAG.
Mode of inheritance for STR: TBP_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: TBP_CAG were set to 20301611
Phenotypes for STR: TBP_CAG were set to Spinocerebellar ataxia 17 607136
Review for STR: TBP_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia v1.148, Parkinson Disease and Complex Parkinsonism v1.64, Hereditary spastic paraplegia v1.141, Brain channelopathy v1.46, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.45
Sources: Expert list
Childhood onset leukodystrophy v1.1 Ellen McDonagh Changed child panels to: Intellectual disability; Mitochondrial disorders; Inborn errors of metabolism; White matter disorders and cerebral calcification - narrow panel
Paediatric disorders v1.0 Ellen McDonagh promoted panel to version 1.0
Paediatric disorders v0.11 Ellen McDonagh Panel status changed from public to internal
White matter disorders and cerebral calcification - narrow panel v0.14 Ellen McDonagh Panel types changed to GMS Rare Disease; Component Of Super Panel
Likely inborn error of metabolism v0.20 Ellen McDonagh Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel
Mitochondrial disorders v1.86 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel
Childhood onset leukodystrophy v1.0 Ellen McDonagh promoted panel to version 1.0
Childhood onset leukodystrophy v0.11 Ellen McDonagh Panel status changed from public to internal
Other rare neuromuscular disorders v0.24 DMPK_CTG Louise Daugherty Deleted their comment
Other rare neuromuscular disorders v0.24 DMPK_CTG Louise Daugherty Classified STR: DMPK_CTG as Green List (high evidence)
Other rare neuromuscular disorders v0.24 DMPK_CTG Louise Daugherty Added comment: Comment on list classification: STR added from merged panels.
Other rare neuromuscular disorders v0.24 DMPK_CTG Louise Daugherty Str: dmpk_ctg has been classified as Green List (High Evidence).
Other rare neuromuscular disorders v0.23 DMPK_CTG Louise Daugherty Classified STR: DMPK_CTG as Green List (high evidence)
Other rare neuromuscular disorders v0.23 DMPK_CTG Louise Daugherty Str: dmpk_ctg has been classified as Green List (High Evidence).
Other rare neuromuscular disorders v0.22 DMPK_CTG Louise Daugherty STR: DMPK_CTG was added
STR: DMPK_CTG was added to Neuromuscular disorders. Sources: Expert list
STR tags were added to STR: DMPK_CTG.
Mode of inheritance for STR: DMPK_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: DMPK_CTG were set to Myotonic dystrophy 1 160900
Review for STR: DMPK_CTG was set to GREEN
Added comment: Source PanelApp panels : Congenital muscular dystrophy v1.21, Congenital myopathy v1.67
Sources: Expert list
Ataxia and cerebellar anomalies - narrow panel v0.7 PMPCA Rebecca Foulger Classified gene: PMPCA as Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v0.7 PMPCA Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green, to match Green rating on Hereditary ataxia v1.148 panel.
Ataxia and cerebellar anomalies - narrow panel v0.7 PMPCA Rebecca Foulger Gene: pmpca has been classified as Green List (High Evidence).
Intellectual disability v2.587 CDK10 Konstantinos Varvagiannis reviewed gene: CDK10: Rating: GREEN; Mode of pathogenicity: None; Publications: 28886341; Phenotypes: Al Kaissi syndrome (MIM 617694); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lipodystrophy - childhood onset v0.7 PLIN1 Ellen McDonagh Classified gene: PLIN1 as Amber List (moderate evidence)
Lipodystrophy - childhood onset v0.7 PLIN1 Ellen McDonagh Added comment: Comment on list classification: This gene was downgraded from Green to Amber due to the findings of PMID: 30020498 - variants in this gene predicted to cause haplosufficiency are not a cause of familial partial lipodystrophy.
Lipodystrophy - childhood onset v0.7 PLIN1 Ellen McDonagh Gene: plin1 has been classified as Amber List (Moderate Evidence).
Adult onset neurodegenerative disorder v0.35 LRRK2 Rebecca Foulger Mode of pathogenicity for gene: LRRK2 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
Adult onset neurodegenerative disorder v0.34 TUBB4A Rebecca Foulger Mode of pathogenicity for gene: TUBB4A was changed from to Other
Lipodystrophy - childhood onset v0.6 PLIN1 Ellen McDonagh Publications for gene: PLIN1 were set to 21345103; 25114292
Adult onset neurodegenerative disorder v0.33 SOD1 Rebecca Foulger Mode of pathogenicity for gene: SOD1 was changed from to Other
Adult onset neurodegenerative disorder v0.32 SNCA Rebecca Foulger Mode of pathogenicity for gene: SNCA was changed from to Other
Adult onset neurodegenerative disorder v0.31 ITPR1 Rebecca Foulger Mode of pathogenicity for gene: ITPR1 was changed from to Other
Adult onset neurodegenerative disorder v0.30 CACNA1G Rebecca Foulger Mode of pathogenicity for gene: CACNA1G 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
Adult onset neurodegenerative disorder v0.29 AR Rebecca Foulger Mode of pathogenicity for gene: AR was changed from to Other
Adult onset neurodegenerative disorder v0.28 AFG3L2 Rebecca Foulger Mode of pathogenicity for gene: AFG3L2 was changed from to Other
Adult onset neurodegenerative disorder v0.27 RAB3GAP2 Rebecca Foulger commented on gene: RAB3GAP2
Adult onset neurodegenerative disorder v0.27 KLC4 Rebecca Foulger commented on gene: KLC4
Adult onset neurodegenerative disorder v0.27 KDM5C Rebecca Foulger commented on gene: KDM5C
Adult onset neurodegenerative disorder v0.27 HACE1 Rebecca Foulger commented on gene: HACE1
Adult onset neurodegenerative disorder v0.27 ERLIN1 Rebecca Foulger commented on gene: ERLIN1
Adult onset neurodegenerative disorder v0.27 DARS Rebecca Foulger commented on gene: DARS
Adult onset neurodegenerative disorder v0.27 ARG1 Rebecca Foulger commented on gene: ARG1
Adult onset neurodegenerative disorder v0.27 ABCD1 Rebecca Foulger commented on gene: ABCD1
Monogenic hearing loss v1.56 BCAP31 Eleanor Williams commented on gene: BCAP31
Intellectual disability v2.587 COLEC10 Konstantinos Varvagiannis reviewed gene: COLEC10: Rating: RED; Mode of pathogenicity: None; Publications: 28301481; Phenotypes: 3MC syndrome 3 (MIM 248340); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset dystonia v1.76 BCAP31 Eleanor Williams Phenotypes for gene: BCAP31 were changed from Deafness, dystonia and cerebellar hypomyelination, 300475 to Deafness, dystonia and cerebellar hypomyelination, 300475; DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS
Early onset dystonia v1.75 BCAP31 Eleanor Williams Publications for gene: BCAP31 were set to
Early onset dystonia v1.74 BCAP31 Eleanor Williams Mode of inheritance for gene: BCAP31 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset dystonia v1.73 BCAP31 Eleanor Williams Classified gene: BCAP31 as Green List (high evidence)
Early onset dystonia v1.73 BCAP31 Eleanor Williams Added comment: Comment on list classification: More than 3 cases with variants in BCAP31 and a dystonia phenotype
Early onset dystonia v1.73 BCAP31 Eleanor Williams Gene: bcap31 has been classified as Green List (High Evidence).
Early onset dystonia v1.72 BCAP31 Eleanor Williams commented on gene: BCAP31
Intellectual disability v2.587 SETD1B Konstantinos Varvagiannis reviewed gene: SETD1B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Early onset dystonia v1.72 DLAT Eleanor Williams Phenotypes for gene: DLAT were changed from Dystonia to episodic dystonia; pyruvate dehydrogenase deficiency; Pyruvate dehydrogenase E2 deficiency
Early onset dystonia v1.71 DLAT Eleanor Williams Publications for gene: DLAT were set to
Early onset dystonia v1.70 DLAT Eleanor Williams Mode of inheritance for gene: DLAT was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset dystonia v1.69 DLAT Eleanor Williams Classified gene: DLAT as Green List (high evidence)
Early onset dystonia v1.69 DLAT Eleanor Williams Added comment: Comment on list classification: 3 unrelated cases with plausible disease causing variants in the DLAT gene. All cases show dystonia in childhood.
Early onset dystonia v1.69 DLAT Eleanor Williams Gene: dlat has been classified as Green List (High Evidence).
Intellectual disability v2.587 EPB41L1 Konstantinos Varvagiannis reviewed gene: EPB41L1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21376300, 19503082, 11050113, 26539891, 25961944; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Early onset dystonia v1.68 DLAT Eleanor Williams commented on gene: DLAT
Childhood onset hereditary spastic paraplegia v0.6 ZFYVE27 Sarah Leigh gene: ZFYVE27 was added
gene: ZFYVE27 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: ZFYVE27 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZFYVE27 were set to Mannan AU (2006)
Phenotypes for gene: ZFYVE27 were set to Spastic paraplegia 33, autosomal dominant
Childhood onset hereditary spastic paraplegia v0.6 ZFYVE26 Sarah Leigh gene: ZFYVE26 was added
gene: ZFYVE26 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZFYVE26 were set to Hanein et al. (2008)
Phenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 ZEB2 Sarah Leigh gene: ZEB2 was added
gene: ZEB2 was added to Hereditary spastic paraplegia - childhood onset. Sources: UKGTN,Expert Review Red
Mode of inheritance for gene: ZEB2 was set to
Childhood onset hereditary spastic paraplegia v0.6 WDR48 Sarah Leigh gene: WDR48 was added
gene: WDR48 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: WDR48 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR48 were set to Novarino et al. (2014)
Childhood onset hereditary spastic paraplegia v0.6 WDR45B Sarah Leigh gene: WDR45B was added
gene: WDR45B was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Green,Literature
Mode of inheritance for gene: WDR45B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR45B were set to 21937992; 28503735
Phenotypes for gene: WDR45B were set to profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.
Childhood onset hereditary spastic paraplegia v0.6 WASHC5 Sarah Leigh gene: WASHC5 was added
gene: WASHC5 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: WASHC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WASHC5 were set to Valdmanis et al. (2007)
Phenotypes for gene: WASHC5 were set to Spastic paraplegia 8, autosomal dominant
Childhood onset hereditary spastic paraplegia v0.6 VPS37A Sarah Leigh gene: VPS37A was added
gene: VPS37A was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red
Mode of inheritance for gene: VPS37A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS37A were set to Zivony-Elboum et al. (2012)
Phenotypes for gene: VPS37A were set to Spastic paraplegia 53, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 VAMP1 Sarah Leigh gene: VAMP1 was added
gene: VAMP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red
Mode of inheritance for gene: VAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: VAMP1 were set to 22958904
Phenotypes for gene: VAMP1 were set to Spastic ataxia 1, autosomal dominant, 108600
Childhood onset hereditary spastic paraplegia v0.6 USP8 Sarah Leigh gene: USP8 was added
gene: USP8 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: USP8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP8 were set to Novarino et al. (2014)
Childhood onset hereditary spastic paraplegia v0.6 TUBB4A Sarah Leigh gene: TUBB4A was added
gene: TUBB4A was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBB4A were set to Dystonia 4, torsion, autosomal dominant 128101; ataxia; Leukodystrophy, hypomyelinating, 6 612438
Childhood onset hereditary spastic paraplegia v0.6 TFG Sarah Leigh gene: TFG was added
gene: TFG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: TFG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TFG were set to Beetz et al. (2013)
Childhood onset hereditary spastic paraplegia v0.6 TECPR2 Sarah Leigh gene: TECPR2 was added
gene: TECPR2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red
Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TECPR2 were set to 23176824; 26542466
Phenotypes for gene: TECPR2 were set to Spastic paraplegia 49, autosomal recessive, 615031
Childhood onset hereditary spastic paraplegia v0.6 SPG7 Sarah Leigh gene: SPG7 was added
gene: SPG7 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG7 were set to Casari et al (1998)
Phenotypes for gene: SPG7 were set to Spastic paraplegia 7, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 SPG21 Sarah Leigh gene: SPG21 was added
gene: SPG21 was added to Hereditary spastic paraplegia - childhood onset. Sources: UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SPG21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG21 were set to Simpson et al. (2003)
Phenotypes for gene: SPG21 were set to Spastic Paraplegia, Recessive
Childhood onset hereditary spastic paraplegia v0.6 SPG11 Sarah Leigh gene: SPG11 was added
gene: SPG11 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG11 were set to Stevanin et al. (2007)
Phenotypes for gene: SPG11 were set to Spastic paraplegia 11, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 SPAST Sarah Leigh gene: SPAST was added
gene: SPAST was added to Hereditary spastic paraplegia - childhood onset. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green,Eligibility statement prior genetic testing,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPAST were set to Hazan et al (1999)
Phenotypes for gene: SPAST were set to Spastic paraplegia 4, autosomal dominant
Childhood onset hereditary spastic paraplegia v0.6 SPART Sarah Leigh gene: SPART was added
gene: SPART was added to Hereditary spastic paraplegia - childhood onset. Sources: UKGTN,Expert list,Expert Review Green
Mode of inheritance for gene: SPART was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPART were set to Patel et al. (2002
Childhood onset hereditary spastic paraplegia v0.6 SLC33A1 Sarah Leigh gene: SLC33A1 was added
gene: SLC33A1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SLC33A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC33A1 were set to Lin et al. (2008)
Phenotypes for gene: SLC33A1 were set to Spastic paraplegia 42, autosomal dominant,
Childhood onset hereditary spastic paraplegia v0.6 SLC2A1 Sarah Leigh gene: SLC2A1 was added
gene: SLC2A1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature
Mode of inheritance for gene: SLC2A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC2A1 were set to 21832227; 18606970; 11136715
Phenotypes for gene: SLC2A1 were set to paroxysmal choreoathetosis; spastic paraplegia; seizure; Developmental delay
Childhood onset hereditary spastic paraplegia v0.6 SLC25A46 Sarah Leigh gene: SLC25A46 was added
gene: SLC25A46 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A46 were set to 28369803; 26168012
Phenotypes for gene: SLC25A46 were set to Neuropathy, hereditary motor and sensory, type VIB, 616505
Childhood onset hereditary spastic paraplegia v0.6 SLC1A4 Sarah Leigh gene: SLC1A4 was added
gene: SLC1A4 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC1A4 were set to 25930971; 26041762; 29989513; 26138499; 27193218
Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657
Childhood onset hereditary spastic paraplegia v0.6 SLC16A2 Sarah Leigh gene: SLC16A2 was added
gene: SLC16A2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC16A2 were set to Friesema et al. (2003)
Childhood onset hereditary spastic paraplegia v0.6 SERAC1 Sarah Leigh gene: SERAC1 was added
gene: SERAC1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Other,Expert Review Green
Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERAC1 were set to 27186703; 28482397; 27604308; 28778788; 29205472; 22683713; 16527507
Phenotypes for gene: SERAC1 were set to MEGDEL syndrome; MEGDHEL syndrome; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739
Childhood onset hereditary spastic paraplegia v0.6 SACS Sarah Leigh gene: SACS was added
gene: SACS was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type
Childhood onset hereditary spastic paraplegia v0.6 RTN2 Sarah Leigh gene: RTN2 was added
gene: RTN2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: RTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RTN2 were set to Montenegro et al. (2012)
Phenotypes for gene: RTN2 were set to Spastic paraplegia 12, autosomal dominant
Childhood onset hereditary spastic paraplegia v0.6 REEP2 Sarah Leigh gene: REEP2 was added
gene: REEP2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Other,Literature
Mode of inheritance for gene: REEP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: REEP2 were set to 24388663
Phenotypes for gene: REEP2 were set to ?Spastic paraplegia 72, autosomal recessive, 615625; ?Spastic paraplegia 72, autosomal dominant,615625
Childhood onset hereditary spastic paraplegia v0.6 REEP1 Sarah Leigh gene: REEP1 was added
gene: REEP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: REEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: REEP1 were set to Zuchner et al. (2006)
Phenotypes for gene: REEP1 were set to Spastic paraplegia 31, autosomal dominant
Childhood onset hereditary spastic paraplegia v0.6 RAB3GAP2 Sarah Leigh gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature
Mode of inheritance for gene: RAB3GAP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB3GAP2 were set to 24482476
Phenotypes for gene: RAB3GAP2 were set to spastic paraplegia
Childhood onset hereditary spastic paraplegia v0.6 PSEN1 Sarah Leigh gene: PSEN1 was added
gene: PSEN1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red
Mode of inheritance for gene: PSEN1 was set to
Phenotypes for gene: PSEN1 were set to Alzheimer disease, type 3, with spastic paraparesis and unusual plaques; Alzheimer disease, type 3, with spastic paraparesis and apraxia
Childhood onset hereditary spastic paraplegia v0.6 POLR3A Sarah Leigh gene: POLR3A was added
gene: POLR3A was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Green,Literature
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3A were set to 21855841; 25655951
Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Autosomal Recessive Ataxia
Childhood onset hereditary spastic paraplegia v0.6 PNPLA6 Sarah Leigh gene: PNPLA6 was added
gene: PNPLA6 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA6 were set to Rainier et al. (2008)
Phenotypes for gene: PNPLA6 were set to Spastic paraplegia 39, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 PLP1 Sarah Leigh gene: PLP1 was added
gene: PLP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PLP1 were set to Saugier-Veber et al (1994)
Phenotypes for gene: PLP1 were set to Spastic paraplegia 2, X-linked
Childhood onset hereditary spastic paraplegia v0.6 PGAP1 Sarah Leigh gene: PGAP1 was added
gene: PGAP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: PGAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGAP1 were set to Novarino et al. (2014)
Childhood onset hereditary spastic paraplegia v0.6 PCDH12 Sarah Leigh gene: PCDH12 was added
gene: PCDH12 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review
Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCDH12 were set to 27164683
Phenotypes for gene: PCDH12 were set to microcephaly; epilepsy; midbrain abnormalities; intellectual disability; hypothalamic abnormalities; perithalamic hyperechogenicity; periventricular hyperechogenicity
Childhood onset hereditary spastic paraplegia v0.6 OPA3 Sarah Leigh gene: OPA3 was added
gene: OPA3 was added to Hereditary spastic paraplegia - childhood onset. Sources: Other,Expert Review Green,Literature
Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OPA3 were set to 25201222; 11668429; 20301646; 24944951; 25657044
Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501; Costeff syndrome
Childhood onset hereditary spastic paraplegia v0.6 NT5C2 Sarah Leigh gene: NT5C2 was added
gene: NT5C2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red
Mode of inheritance for gene: NT5C2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NT5C2 were set to 29123918; 28884889; 24482476; 28327087
Phenotypes for gene: NT5C2 were set to Spasticparaplegia45, autosomal recessive 613162
Childhood onset hereditary spastic paraplegia v0.6 NKX6-2 Sarah Leigh gene: NKX6-2 was added
gene: NKX6-2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Green,Literature
Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NKX6-2 were set to 15601927; 28575651
Phenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560
Childhood onset hereditary spastic paraplegia v0.6 NIPA1 Sarah Leigh gene: NIPA1 was added
gene: NIPA1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: NIPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NIPA1 were set to Rainier et al. (2003)
Phenotypes for gene: NIPA1 were set to Spasticparaplegia6,autosomaldominant,600363; Spastic paraplegia 6, autosomal dominant
Childhood onset hereditary spastic paraplegia v0.6 MTPAP Sarah Leigh gene: MTPAP was added
gene: MTPAP was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red
Mode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTPAP were set to Spastic ataxia 4, autosomal recessive; Ataxia, spastic, 4
Childhood onset hereditary spastic paraplegia v0.6 MARS2 Sarah Leigh gene: MARS2 was added
gene: MARS2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red
Mode of inheritance for gene: MARS2 was set to
Phenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 MARS Sarah Leigh gene: MARS was added
gene: MARS was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: MARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MARS were set to Novarino et al. (2014)
Childhood onset hereditary spastic paraplegia v0.6 MAG Sarah Leigh gene: MAG was added
gene: MAG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: MAG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAG were set to 24482476; 26179919
Phenotypes for gene: MAG were set to Spastic paraplegia 75, autosomal recessive, 616680
Childhood onset hereditary spastic paraplegia v0.6 LYST Sarah Leigh gene: LYST was added
gene: LYST was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LYST were set to 24521565
Phenotypes for gene: LYST were set to spastic paraplegia
Childhood onset hereditary spastic paraplegia v0.6 L1CAM Sarah Leigh gene: L1CAM was added
gene: L1CAM was added to Hereditary spastic paraplegia - childhood onset. Sources: UKGTN,Expert list,Expert Review Green
Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: L1CAM were set to PMID: 7920659
Phenotypes for gene: L1CAM were set to X-linked hydrocephalus, MASA syndrome, Hereditary spastic paraplegia
Childhood onset hereditary spastic paraplegia v0.6 KLC4 Sarah Leigh gene: KLC4 was added
gene: KLC4 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature
Mode of inheritance for gene: KLC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLC4 were set to 26423925
Phenotypes for gene: KLC4 were set to spastic paraplegia
Childhood onset hereditary spastic paraplegia v0.6 KIF5A Sarah Leigh gene: KIF5A was added
gene: KIF5A was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KIF5A were set to Reid et al. (2002)
Phenotypes for gene: KIF5A were set to Spastic paraplegia 10, autosomal dominant
Childhood onset hereditary spastic paraplegia v0.6 KIF1C Sarah Leigh gene: KIF1C was added
gene: KIF1C was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red
Mode of inheritance for gene: KIF1C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF1C were set to 17273843; 24482476; 24319291
Phenotypes for gene: KIF1C were set to Spastic ataxia 2,autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 KIF1A Sarah Leigh gene: KIF1A was added
gene: KIF1A was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: KIF1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF1A were set to Erlich et al. (2011)
Phenotypes for gene: KIF1A were set to Spastic paraplegia 30, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 KIDINS220 Sarah Leigh gene: KIDINS220 was added
gene: KIDINS220 was added to Hereditary spastic paraplegia - childhood onset. Sources: Other,Expert Review Green
Mode of inheritance for gene: KIDINS220 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIDINS220 were set to Spastic paraplegia, intellectual disability, nystagmus, and obesity 617296
Childhood onset hereditary spastic paraplegia v0.6 KDM5C Sarah Leigh gene: KDM5C was added
gene: KDM5C was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature
Mode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: KDM5C were set to 26919706; 15586325; 10982473
Phenotypes for gene: KDM5C were set to Intellectual disability; progressive spasticity; epilepsy; hypothyroidism; developmental delay
Childhood onset hereditary spastic paraplegia v0.6 IBA57 Sarah Leigh gene: IBA57 was added
gene: IBA57 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IBA57 were set to 30258207; 25609768
Phenotypes for gene: IBA57 were set to ?Spastic paraplegia 74, autosomal recessive, 616451
Childhood onset hereditary spastic paraplegia v0.6 HSPD1 Sarah Leigh gene: HSPD1 was added
gene: HSPD1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: HSPD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HSPD1 were set to Hansen et al. (2002)
Phenotypes for gene: HSPD1 were set to Spastic paraplegia 13, autosomal dominant
Childhood onset hereditary spastic paraplegia v0.6 HACE1 Sarah Leigh gene: HACE1 was added
gene: HACE1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature
Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HACE1 were set to 26437029; 26424145
Phenotypes for gene: HACE1 were set to psychomotor retardation; Spastic paraplegia; seizure
Childhood onset hereditary spastic paraplegia v0.6 GJC2 Sarah Leigh gene: GJC2 was added
gene: GJC2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Red
Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GJC2 were set to Orthmann-Murphy et al. (2009)
Phenotypes for gene: GJC2 were set to Spastic paraplegia 44, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 GCH1 Sarah Leigh gene: GCH1 was added
gene: GCH1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: GCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GCH1 were set to 21935284; 24509643
Phenotypes for gene: GCH1 were set to progressive spastic paraplegia; Spastic paraplegia; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Dystonia
Childhood onset hereditary spastic paraplegia v0.6 GBA2 Sarah Leigh gene: GBA2 was added
gene: GBA2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green
Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBA2 were set to Martin et al. (2013)
Phenotypes for gene: GBA2 were set to Spastic paraplegia 46, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 GAD1 Sarah Leigh gene: GAD1 was added
gene: GAD1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red
Mode of inheritance for gene: GAD1 was set to
Phenotypes for gene: GAD1 were set to Cerebralpalsy,spasticquadriplegic,1,603513
Childhood onset hereditary spastic paraplegia v0.6 FARS2 Sarah Leigh gene: FARS2 was added
gene: FARS2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Green,Literature
Mode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FARS2 were set to 29126765; 26553276; 25851414; 30250868
Phenotypes for gene: FARS2 were set to Spastic paraplegia 77, autosomal recessive, 617046
Childhood onset hereditary spastic paraplegia v0.6 FA2H Sarah Leigh gene: FA2H was added
gene: FA2H was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green
Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FA2H were set to Edvardson et al. (2008)
Phenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 ERLIN2 Sarah Leigh gene: ERLIN2 was added
gene: ERLIN2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: ERLIN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ERLIN2 were set to 27824013; 23085305; 21330303; 23109142; 28832565; 23897027; 22554690; 25977983; 23109145; 21796390; 29528531
Phenotypes for gene: ERLIN2 were set to Spastic paraplegia 18, autosomal recessive, 611225; neurodegeneration; hereditary spastic paraplegia; Spastic paraplegia, autosomal dominant
Childhood onset hereditary spastic paraplegia v0.6 ERLIN1 Sarah Leigh gene: ERLIN1 was added
gene: ERLIN1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Other,Expert Review Red
Mode of inheritance for gene: ERLIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERLIN1 were set to 24482476
Phenotypes for gene: ERLIN1 were set to Hereditary spastic paraplegia
Childhood onset hereditary spastic paraplegia v0.6 ENTPD1 Sarah Leigh gene: ENTPD1 was added
gene: ENTPD1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red
Mode of inheritance for gene: ENTPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ENTPD1 were set to Novarino et al. (2014)
Phenotypes for gene: ENTPD1 were set to Spasticparaplegia64,615683
Childhood onset hereditary spastic paraplegia v0.6 DSTYK Sarah Leigh gene: DSTYK was added
gene: DSTYK was added to Hereditary spastic paraplegia - childhood onset. Sources: Other
Mode of inheritance for gene: DSTYK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSTYK were set to 28157540
Phenotypes for gene: DSTYK were set to Spastic paraplegia 23, 270750
Childhood onset hereditary spastic paraplegia v0.6 DDHD2 Sarah Leigh gene: DDHD2 was added
gene: DDHD2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDHD2 were set to Schuurs-Hoeijmakers et al. (2012)
Phenotypes for gene: DDHD2 were set to Spastic paraplegia 54, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 DDHD1 Sarah Leigh gene: DDHD1 was added
gene: DDHD1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDHD1 were set to Tesson et al. (2012)
Phenotypes for gene: DDHD1 were set to Spastic paraplegia 28, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 DARS Sarah Leigh gene: DARS was added
gene: DARS was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature
Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DARS were set to 25527264; 23643384
Phenotypes for gene: DARS were set to leg spasticity; Brain stem and spinal cord Hypomyelination
Childhood onset hereditary spastic paraplegia v0.6 CYP7B1 Sarah Leigh gene: CYP7B1 was added
gene: CYP7B1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP7B1 were set to Tsaousidou et al. (2008) i
Phenotypes for gene: CYP7B1 were set to Spastic paraplegia 5A, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 CYP2U1 Sarah Leigh gene: CYP2U1 was added
gene: CYP2U1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP2U1 were set to Tesson et al. (2012)
Phenotypes for gene: CYP2U1 were set to Spastic paraplegia 56, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 CYP27A1 Sarah Leigh gene: CYP27A1 was added
gene: CYP27A1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP27A1 were set to 25862734
Phenotypes for gene: CYP27A1 were set to progressive lower extremity spasticity,often disproportionate to any degree of weakness
Childhood onset hereditary spastic paraplegia v0.6 CDK16 Sarah Leigh gene: CDK16 was added
gene: CDK16 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: CDK16 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CDK16 were set to 25644381; 26350204
Phenotypes for gene: CDK16 were set to Intellectual disability and spastic paraplegia
Childhood onset hereditary spastic paraplegia v0.6 CCT5 Sarah Leigh gene: CCT5 was added
gene: CCT5 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CCT5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCT5 were set to Neuropathy, hereditary sensory, with spastic paraplegia; Sensory Neuropathy with Spastic Paraplegia
Childhood onset hereditary spastic paraplegia v0.6 CAPN1 Sarah Leigh gene: CAPN1 was added
gene: CAPN1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CAPN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAPN1 were set to Spastic paraplegia 76 autosomal recessive, 616907
Childhood onset hereditary spastic paraplegia v0.6 C19orf12 Sarah Leigh gene: C19orf12 was added
gene: C19orf12 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C19orf12 were set to Landoure (2013)
Childhood onset hereditary spastic paraplegia v0.6 C12orf65 Sarah Leigh gene: C12orf65 was added
gene: C12orf65 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C12orf65 were set to Shimazaki et al. (2012)
Phenotypes for gene: C12orf65 were set to Spasticparaplegia55,autosomalrecessive,615035
Childhood onset hereditary spastic paraplegia v0.6 BSCL2 Sarah Leigh gene: BSCL2 was added
gene: BSCL2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green
Mode of inheritance for gene: BSCL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BSCL2 were set to Windpassinger et al. (2004)
Phenotypes for gene: BSCL2 were set to Silver spastic paraplegia syndrome,
Childhood onset hereditary spastic paraplegia v0.6 B4GALNT1 Sarah Leigh gene: B4GALNT1 was added
gene: B4GALNT1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GALNT1 were set to Boukhris et al. (2013)
Phenotypes for gene: B4GALNT1 were set to Spastic paraplegia 26, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 ATP13A2 Sarah Leigh gene: ATP13A2 was added
gene: ATP13A2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP13A2 were set to 28137957
Phenotypes for gene: ATP13A2 were set to Adult-onset lower-limb predominant spastic paraparesis
Childhood onset hereditary spastic paraplegia v0.6 ATL1 Sarah Leigh gene: ATL1 was added
gene: ATL1 was added to Hereditary spastic paraplegia - childhood onset. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green,Eligibility statement prior genetic testing,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATL1 were set to PMID: 11685207
Phenotypes for gene: ATL1 were set to Spastic paraplegia 3A, autosomal dominant; Spastic paraplegia 3A, autosomal dominant,; Spastic Paraplegia, Dominant
Childhood onset hereditary spastic paraplegia v0.6 ARSI Sarah Leigh gene: ARSI was added
gene: ARSI was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: ARSI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARSI were set to Novarino et al. (2014)
Childhood onset hereditary spastic paraplegia v0.6 ARL6IP1 Sarah Leigh gene: ARL6IP1 was added
gene: ARL6IP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: ARL6IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL6IP1 were set to Novarino et al. (2014)
Childhood onset hereditary spastic paraplegia v0.6 ARG1 Sarah Leigh gene: ARG1 was added
gene: ARG1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARG1 were set to 23859858; 26310552
Phenotypes for gene: ARG1 were set to Argininaemia; Progressive spastic tetraplegia
Childhood onset hereditary spastic paraplegia v0.6 AP5Z1 Sarah Leigh gene: AP5Z1 was added
gene: AP5Z1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: AP5Z1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP5Z1 were set to Slabicki et al. (2010) i
Phenotypes for gene: AP5Z1 were set to Spastic paraplegia 48, autosomal recessive; Spastic Paraplegia, Recessive
Childhood onset hereditary spastic paraplegia v0.6 AP4S1 Sarah Leigh gene: AP4S1 was added
gene: AP4S1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: AP4S1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4S1 were set to Abou Jamra et al. (2011)
Phenotypes for gene: AP4S1 were set to seizures; developmental delay; Spastic paraplegia 52, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 AP4M1 Sarah Leigh gene: AP4M1 was added
gene: AP4M1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4M1 were set to Verkerk et al. (2009)
Phenotypes for gene: AP4M1 were set to Spastic paraplegia 50, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 AP4E1 Sarah Leigh gene: AP4E1 was added
gene: AP4E1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4E1 were set to Moreno-De-Luca et al. (2011)
Phenotypes for gene: AP4E1 were set to Spastic paraplegia 51, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 AP4B1 Sarah Leigh gene: AP4B1 was added
gene: AP4B1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4B1 were set to Abou Jamra et al. (2011) i
Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 AMPD2 Sarah Leigh gene: AMPD2 was added
gene: AMPD2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMPD2 were set to Novarino et al. (2014)
Phenotypes for gene: AMPD2 were set to Pontocerebellar hypolplasia (biallelic); Hereditary Spastic Paraplegia?
Childhood onset hereditary spastic paraplegia v0.6 ALS2 Sarah Leigh gene: ALS2 was added
gene: ALS2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALS2 were set to 12145748
Phenotypes for gene: ALS2 were set to 607225
Childhood onset hereditary spastic paraplegia v0.6 ALDH18A1 Sarah Leigh gene: ALDH18A1 was added
gene: ALDH18A1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Other,Expert Review Green,Literature
Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ALDH18A1 were set to ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; SPG9; Spastic paraplegia 9B, autosomal recessive CUTIS LAXA, AUTOSOMAL DOMINANT 3; Spastic paraplegia 9A, autosomal dominant
Childhood onset hereditary spastic paraplegia v0.6 AIMP1 Sarah Leigh gene: AIMP1 was added
gene: AIMP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AIMP1 were set to 21092922
Phenotypes for gene: AIMP1 were set to 260600
Childhood onset hereditary spastic paraplegia v0.6 AFG3L2 Sarah Leigh gene: AFG3L2 was added
gene: AFG3L2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green
Mode of inheritance for gene: AFG3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AFG3L2 were set to Spastic ataxia 5, autosomal recessive; Ataxia, spastic, 5, autosomal recessive
Childhood onset hereditary spastic paraplegia v0.6 ADAR Sarah Leigh gene: ADAR was added
gene: ADAR was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAR were set to 25243380
Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6, 615010
Childhood onset hereditary spastic paraplegia v0.6 ABCD1 Sarah Leigh gene: ABCD1 was added
gene: ABCD1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ABCD1 were set to adrenal failure; VLCFA accumulation; Hereditary spastic paraplegia
Ataxia and cerebellar anomalies - narrow panel v0.5 DNAJC5 Ellen McDonagh gene: DNAJC5 was added
gene: DNAJC5 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNAJC5 were set to 27604308; 21820099
Phenotypes for gene: DNAJC5 were set to Ceroid lipofuscinosis, neuronal, 4, Parry type
Ataxia and cerebellar anomalies - narrow panel v0.5 DAB1 Ellen McDonagh gene: DAB1 was added
gene: DAB1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: DAB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DAB1 were set to 28686858
Phenotypes for gene: DAB1 were set to Spinocerebellar ataxia 37
Mode of pathogenicity for gene: DAB1 was set to Other - please provide details in the comments
Ataxia and cerebellar anomalies - narrow panel v0.5 ATXN8 Ellen McDonagh gene: ATXN8 was added
gene: ATXN8 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: ATXN8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATXN8 were set to 10192387
Phenotypes for gene: ATXN8 were set to Spinocerebellar ataxia 8
Mode of pathogenicity for gene: ATXN8 was set to Other - please provide details in the comments
Ataxia and cerebellar anomalies - narrow panel v0.5 ELOVL4 Ellen McDonagh gene: ELOVL4 was added
gene: ELOVL4 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: ELOVL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ELOVL4 were set to 24566826; 26010696
Phenotypes for gene: ELOVL4 were set to Spinocerebellar ataxia 34
Ataxia and cerebellar anomalies - narrow panel v0.5 COG5 Ellen McDonagh gene: COG5 was added
gene: COG5 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber
Mode of inheritance for gene: COG5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COG5 were set to 19690088; 28960046
Phenotypes for gene: COG5 were set to Congenital disorder of glycosylation, type IIi
Ataxia and cerebellar anomalies - narrow panel v0.5 SAR1B Ellen McDonagh gene: SAR1B was added
gene: SAR1B was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAR1B were set to Chylomicron retention disease
Ataxia and cerebellar anomalies - narrow panel v0.5 ROBO3 Ellen McDonagh gene: ROBO3 was added
gene: ROBO3 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: ROBO3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ROBO3 were set to 16525029; 15105459
Phenotypes for gene: ROBO3 were set to Gaze palsy, familial horizontal, with progressive scoliosis, 1
Ataxia and cerebellar anomalies - narrow panel v0.5 NKX6-2 Ellen McDonagh gene: NKX6-2 was added
gene: NKX6-2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NKX6-2 were set to 15601927; 28575651
Phenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
Ataxia and cerebellar anomalies - narrow panel v0.5 NHLRC1 Ellen McDonagh gene: NHLRC1 was added
gene: NHLRC1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NHLRC1 were set to 12958597; 15781812
Phenotypes for gene: NHLRC1 were set to Epilepsy, progressive myoclonic 2B (Lafora)
Ataxia and cerebellar anomalies - narrow panel v0.5 EPM2A Ellen McDonagh gene: EPM2A was added
gene: EPM2A was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPM2A were set to 27604308; 10932264; 14722920
Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora)
Ataxia and cerebellar anomalies - narrow panel v0.5 DNAJC19 Ellen McDonagh gene: DNAJC19 was added
gene: DNAJC19 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC19 were set to 16055927; 27604308; 27426421; 22797137; 27928778
Phenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V
Ataxia and cerebellar anomalies - narrow panel v0.5 TBP Ellen McDonagh gene: TBP was added
gene: TBP was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: TBP was set to Unknown
Phenotypes for gene: TBP were set to Spinocerebellarataxia17,607136{Parkinsondisease,susceptibilityto},168600
Mode of pathogenicity for gene: TBP was set to Other - please provide details in the comments
Ataxia and cerebellar anomalies - narrow panel v0.5 PPP2R2B Ellen McDonagh gene: PPP2R2B was added
gene: PPP2R2B was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: PPP2R2B was set to Unknown
Phenotypes for gene: PPP2R2B were set to Spinocerebellarataxia12,604326
Mode of pathogenicity for gene: PPP2R2B was set to Other - please provide details in the comments
Ataxia and cerebellar anomalies - narrow panel v0.5 PAX2 Ellen McDonagh gene: PAX2 was added
gene: PAX2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: PAX2 was set to Unknown
Phenotypes for gene: PAX2 were set to Ataxia,spastic2,autosomalrecessive(2)
Ataxia and cerebellar anomalies - narrow panel v0.5 EXOSC8 Ellen McDonagh gene: EXOSC8 was added
gene: EXOSC8 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: EXOSC8 was set to Unknown
Phenotypes for gene: EXOSC8 were set to Pontocerebellar hypoplasia,type 1C, 616081
Ataxia and cerebellar anomalies - narrow panel v0.5 DAG1 Ellen McDonagh gene: DAG1 was added
gene: DAG1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber
Mode of inheritance for gene: DAG1 was set to Unknown
Phenotypes for gene: DAG1 were set to congenital muscular dystrophies
Ataxia and cerebellar anomalies - narrow panel v0.5 ATXN7 Ellen McDonagh gene: ATXN7 was added
gene: ATXN7 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: ATXN7 was set to Unknown
Phenotypes for gene: ATXN7 were set to Spinocerebellarataxia7,164500
Mode of pathogenicity for gene: ATXN7 was set to Other - please provide details in the comments
Ataxia and cerebellar anomalies - narrow panel v0.5 ATXN3 Ellen McDonagh gene: ATXN3 was added
gene: ATXN3 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: ATXN3 was set to Unknown
Mode of pathogenicity for gene: ATXN3 was set to Other - please provide details in the comments
Ataxia and cerebellar anomalies - narrow panel v0.5 ATXN2 Ellen McDonagh gene: ATXN2 was added
gene: ATXN2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: ATXN2 was set to Unknown
Phenotypes for gene: ATXN2 were set to Spinocerebellarataxia2,183090{Amyotrophiclateralsclerosis,susceptibilityto,13},183090
Mode of pathogenicity for gene: ATXN2 was set to Other - please provide details in the comments
Ataxia and cerebellar anomalies - narrow panel v0.5 ATXN10 Ellen McDonagh gene: ATXN10 was added
gene: ATXN10 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: ATXN10 was set to Unknown
Phenotypes for gene: ATXN10 were set to Spinocerebellarataxia10,603516
Mode of pathogenicity for gene: ATXN10 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Ataxia and cerebellar anomalies - narrow panel v0.5 ATXN1 Ellen McDonagh gene: ATXN1 was added
gene: ATXN1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: ATXN1 was set to Unknown
Phenotypes for gene: ATXN1 were set to Spinocerebellarataxia1,164400
Mode of pathogenicity for gene: ATXN1 was set to Other - please provide details in the comments
Ataxia and cerebellar anomalies - narrow panel v0.5 ATP2B3 Ellen McDonagh gene: ATP2B3 was added
gene: ATP2B3 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: ATP2B3 was set to Unknown
Phenotypes for gene: ATP2B3 were set to Spinocerebellar ataxia, X-linked 1
Ataxia and cerebellar anomalies - narrow panel v0.5 SLC9A6 Ellen McDonagh gene: SLC9A6 was added
gene: SLC9A6 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Ataxia and cerebellar anomalies - narrow panel v0.5 OPHN1 Ellen McDonagh gene: OPHN1 was added
gene: OPHN1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: OPHN1 were set to XLMR with Cerebellar Hypoplasia and Distinctive Facial Appearance; Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486; Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
Ataxia and cerebellar anomalies - narrow panel v0.5 FMR1 Ellen McDonagh gene: FMR1 was added
gene: FMR1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: FMR1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FMR1 were set to FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI); males with a tremor phenotype; FragileXtremor/ataxiasyndrome,300623
Ataxia and cerebellar anomalies - narrow panel v0.5 CASK Ellen McDonagh gene: CASK was added
gene: CASK was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: CASK were set to FG syndrome 4, 300422; Mental retardation, with or without nystagmus; Mental retardation and microcephaly with pontine and cerebellar hypoplasia; Pontocerebellar Hypoplasia; FG syndrome 4; Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749; Mental retardation, with or without nystagmus, 300422
Ataxia and cerebellar anomalies - narrow panel v0.5 AP1S2 Ellen McDonagh gene: AP1S2 was added
gene: AP1S2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Ataxia and cerebellar anomalies - narrow panel v0.5 ALAS2 Ellen McDonagh gene: ALAS2 was added
gene: ALAS2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Ataxia and cerebellar anomalies - narrow panel v0.5 ABCB7 Ellen McDonagh gene: ABCB7 was added
gene: ABCB7 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ABCB7 were set to Anemia, sideroblastic, with ataxia,; Sideroblastic Anemia and Ataxia
Ataxia and cerebellar anomalies - narrow panel v0.5 DKC1 Ellen McDonagh gene: DKC1 was added
gene: DKC1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: DKC1 were set to 9590285; 9886310
Phenotypes for gene: DKC1 were set to X-linked dyskeratosis congenita
Ataxia and cerebellar anomalies - narrow panel v0.5 NOP56 Ellen McDonagh gene: NOP56 was added
gene: NOP56 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: NOP56 was set to Other - please specifiy in evaluation comments
Phenotypes for gene: NOP56 were set to Spinocerebellarataxia36,614153
Mode of pathogenicity for gene: NOP56 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Ataxia and cerebellar anomalies - narrow panel v0.5 ATN1 Ellen McDonagh gene: ATN1 was added
gene: ATN1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: ATN1 was set to Other - please specifiy in evaluation comments
Mode of pathogenicity for gene: ATN1 was set to Other - please provide details in the comments
Ataxia and cerebellar anomalies - narrow panel v0.5 TUBB3 Ellen McDonagh gene: TUBB3 was added
gene: TUBB3 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBB3 were set to 20829227
Phenotypes for gene: TUBB3 were set to Cortical dysplasia, complex, with other brain malformations 1 614039
Ataxia and cerebellar anomalies - narrow panel v0.5 TUBB2B Ellen McDonagh gene: TUBB2B was added
gene: TUBB2B was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: TUBB2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBB2B were set to 19465910
Phenotypes for gene: TUBB2B were set to complex cortical dysplasia with other brain malformations-7 , 610031
Ataxia and cerebellar anomalies - narrow panel v0.5 TUBB Ellen McDonagh gene: TUBB was added
gene: TUBB was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: TUBB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBB were set to 23246003, 27010057
Phenotypes for gene: TUBB were set to Cortical dysplasia, complex, with other brain malformations 6, 615771
Ataxia and cerebellar anomalies - narrow panel v0.5 TUBA1A Ellen McDonagh gene: TUBA1A was added
gene: TUBA1A was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: TUBA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBA1A were set to 17218254, 17584854
Phenotypes for gene: TUBA1A were set to Lissencephaly 3 6,1603
Ataxia and cerebellar anomalies - narrow panel v0.5 TINF2 Ellen McDonagh gene: TINF2 was added
gene: TINF2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TINF2 were set to 18979121; 18252230
Phenotypes for gene: TINF2 were set to Dyskeratosis congenita, autosomal dominant 3 613990
Ataxia and cerebellar anomalies - narrow panel v0.5 KCND3 Ellen McDonagh gene: KCND3 was added
gene: KCND3 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: KCND3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCND3 were set to Spinocerebellarataxia19,607346
Ataxia and cerebellar anomalies - narrow panel v0.5 KCNC3 Ellen McDonagh Added phenotypes Spinocerebellar ataxia 13 for gene: KCNC3
Ataxia and cerebellar anomalies - narrow panel v0.5 KCNC3 Ellen McDonagh gene: KCNC3 was added
gene: KCNC3 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: KCNC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNC3 were set to Spinocerebellar ataxia 13
Ataxia and cerebellar anomalies - narrow panel v0.5 DNMT1 Ellen McDonagh gene: DNMT1 was added
gene: DNMT1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: DNMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DNMT1 were set to Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,
Ataxia and cerebellar anomalies - narrow panel v0.5 DMXL2 Ellen McDonagh gene: DMXL2 was added
gene: DMXL2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber
Mode of inheritance for gene: DMXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DMXL2 were set to 25248098; 22875945; 27657680
Phenotypes for gene: DMXL2 were set to Sensorineural Hearing Loss; ORPHA90636; OMIM:612186
Ataxia and cerebellar anomalies - narrow panel v0.5 CACNA1A Ellen McDonagh gene: CACNA1A was added
gene: CACNA1A was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNA1A were set to Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia; Spinocerebellar ataxia 6; Episodic ataxia, type 2
Ataxia and cerebellar anomalies - narrow panel v0.5 ATP1A3 Ellen McDonagh gene: ATP1A3 was added
gene: ATP1A3 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATP1A3 were set to Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338); Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235)
Ataxia and cerebellar anomalies - narrow panel v0.5 VAMP1 Ellen McDonagh gene: VAMP1 was added
gene: VAMP1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber
Mode of inheritance for gene: VAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: VAMP1 were set to Spastic ataxia 1, autosomal dominant, 108600
Ataxia and cerebellar anomalies - narrow panel v0.5 UBR4 Ellen McDonagh gene: UBR4 was added
gene: UBR4 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: UBR4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: UBR4 were set to PMID: 23982692
Phenotypes for gene: UBR4 were set to Episodic ataxia
Ataxia and cerebellar anomalies - narrow panel v0.5 TUBB4A Ellen McDonagh gene: TUBB4A was added
gene: TUBB4A was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TUBB4A were set to PMID: 25497598
Phenotypes for gene: TUBB4A were set to Implicated autosomal dominant variants in two families with ataxia; Torsion dystonia 4 (128101) - some individuals with ataxia; hypomyelinating leukodystrophy 6 (612438) - ataxia reported.
Mode of pathogenicity for gene: TUBB4A was set to Other - please provide details in the comments
Ataxia and cerebellar anomalies - narrow panel v0.5 TTBK2 Ellen McDonagh gene: TTBK2 was added
gene: TTBK2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: TTBK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TTBK2 were set to Spinocerebellar ataxia 11
Ataxia and cerebellar anomalies - narrow panel v0.5 TMEM240 Ellen McDonagh gene: TMEM240 was added
gene: TMEM240 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: TMEM240 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TMEM240 were set to Spinocerebellar ataxia 21 (#616101)
Ataxia and cerebellar anomalies - narrow panel v0.5 TGM6 Ellen McDonagh gene: TGM6 was added
gene: TGM6 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: TGM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGM6 were set to Spinocerebellar ataxia 35
Ataxia and cerebellar anomalies - narrow panel v0.5 SLC1A3 Ellen McDonagh gene: SLC1A3 was added
gene: SLC1A3 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC1A3 were set to Episodic ataxia, type 6,
Ataxia and cerebellar anomalies - narrow panel v0.5 SCN8A Ellen McDonagh gene: SCN8A was added
gene: SCN8A was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN8A were set to Cognitive impairment with or without cerebellar ataxia, 614306
Ataxia and cerebellar anomalies - narrow panel v0.5 RNF170 Ellen McDonagh gene: RNF170 was added
gene: RNF170 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: RNF170 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RNF170 were set to Ataxia, sensory, 1, autosomal dominant
Ataxia and cerebellar anomalies - narrow panel v0.5 PRRT2 Ellen McDonagh gene: PRRT2 was added
gene: PRRT2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: PRRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ataxia and cerebellar anomalies - narrow panel v0.5 PRNP Ellen McDonagh gene: PRNP was added
gene: PRNP was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRNP were set to Creutzfeldt-Jakob disease; Autosomal Dominant Ataxia; Gerstmann-Straussler disease; Huntington disease-like 1; Insomnia, fatal familial
Ataxia and cerebellar anomalies - narrow panel v0.5 PRKCG Ellen McDonagh gene: PRKCG was added
gene: PRKCG was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: PRKCG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRKCG were set to Spinocerebellar ataxia 14
Ataxia and cerebellar anomalies - narrow panel v0.5 PDYN Ellen McDonagh gene: PDYN was added
gene: PDYN was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: PDYN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PDYN were set to Spinocerebellar ataxia 23
Ataxia and cerebellar anomalies - narrow panel v0.5 KCNA1 Ellen McDonagh gene: KCNA1 was added
gene: KCNA1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNA1 were set to Episodic ataxia/myokymia syndrome,
Ataxia and cerebellar anomalies - narrow panel v0.5 ISCA-37478-Loss Ellen McDonagh Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 7611294; 22045295
Phenotypes for Region: ISCA-37478-Loss were set to microcephaly; Developmental delay, muscle weakness; 176270; Angelman syndrome; Prader-Willi syndrome; 105830; Mental retardation
Ataxia and cerebellar anomalies - narrow panel v0.5 ISCA-37478-Gain Ellen McDonagh Region: ISCA-37478-Gain was added
Region: ISCA-37478-Gain was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Gain were set to 16840569; 9106540; 18374305
Phenotypes for Region: ISCA-37478-Gain were set to autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems; hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636; chromosome 15q11-q13 duplication syndrome
Ataxia and cerebellar anomalies - narrow panel v0.5 ISCA-37404-Loss Ellen McDonagh Region: ISCA-37404-Loss was added
Region: ISCA-37404-Loss was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37404-Loss were set to 7611294; 22045295
Phenotypes for Region: ISCA-37404-Loss were set to microcephaly; Developmental delay, muscle weakness; 176270; 105831; Angelman syndrome; Prader-Willi syndrome; Mental retardation
Ataxia and cerebellar anomalies - narrow panel v0.5 GFAP Ellen McDonagh gene: GFAP was added
gene: GFAP was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GFAP were set to Autosomal Dominant Ataxia; Alexander disease
Ataxia and cerebellar anomalies - narrow panel v0.5 FGF14 Ellen McDonagh gene: FGF14 was added
gene: FGF14 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: FGF14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGF14 were set to Spinocerebellar ataxia 27
Ataxia and cerebellar anomalies - narrow panel v0.5 ELOVL5 Ellen McDonagh gene: ELOVL5 was added
gene: ELOVL5 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: ELOVL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ELOVL5 were set to Spinocerebellar ataxia 36 (#615957)
Mode of pathogenicity for gene: ELOVL5 was set to Other - please provide details in the comments
Ataxia and cerebellar anomalies - narrow panel v0.5 DYNC1H1 Ellen McDonagh gene: DYNC1H1 was added
gene: DYNC1H1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DYNC1H1 were set to Charcot Marie Tooth, SMA, Intellectual disability
Ataxia and cerebellar anomalies - narrow panel v0.5 CCDC88C Ellen McDonagh gene: CCDC88C was added
gene: CCDC88C was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: CCDC88C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CCDC88C were set to PMID: 25062847
Phenotypes for gene: CCDC88C were set to autosomal dominant spinocerebellar ataxia
Mode of pathogenicity for gene: CCDC88C was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Ataxia and cerebellar anomalies - narrow panel v0.5 CAMTA1 Ellen McDonagh gene: CAMTA1 was added
gene: CAMTA1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CAMTA1 were set to Cerebellarataxia,nonprogressive,withmentalretardation,614756 3
Ataxia and cerebellar anomalies - narrow panel v0.5 CACNB4 Ellen McDonagh gene: CACNB4 was added
gene: CACNB4 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: CACNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CACNB4 were set to PMC1378014
Phenotypes for gene: CACNB4 were set to Episodic ataxia, type 5; Episodic Ataxia
Ataxia and cerebellar anomalies - narrow panel v0.5 CACNA1G Ellen McDonagh Mode of pathogenicity for gene CACNA1G was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes Spinocerebellar ataxia 42 616795 for gene: CACNA1G
Publications for gene CACNA1G were changed from to 25558065; 29878067; 17397049; 28726809
Ataxia and cerebellar anomalies - narrow panel v0.5 CACNA1G Ellen McDonagh gene: CACNA1G was added
gene: CACNA1G was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of pathogenicity for gene: CACNA1G was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Ataxia and cerebellar anomalies - narrow panel v0.5 BEAN1 Ellen McDonagh gene: BEAN1 was added
gene: BEAN1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: BEAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BEAN1 were set to 19878914
Phenotypes for gene: BEAN1 were set to Spinocerebellar ataxia 31 117210
Ataxia and cerebellar anomalies - narrow panel v0.5 AARS Ellen McDonagh gene: AARS was added
gene: AARS was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: AARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ataxia and cerebellar anomalies - narrow panel v0.5 MT-ATP6 Ellen McDonagh gene: MT-ATP6 was added
gene: MT-ATP6 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ATP6 were set to Neuropathy, Ataxia, and Retinitis Pigmentosa
Ataxia and cerebellar anomalies - narrow panel v0.5 TWNK Ellen McDonagh gene: TWNK was added
gene: TWNK was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TWNK were set to Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders (Dominant)
Ataxia and cerebellar anomalies - narrow panel v0.5 SPTBN2 Ellen McDonagh Added phenotypes SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14; Spinocerebellar Ataxia, Dominant; Spinocerebellar ataxia, autosomal recessive 14; SPINOCEREBELLAR ATAXIA 5 (autosomal dominant); Spinocerebellar ataxia 5 for gene: SPTBN2
Ataxia and cerebellar anomalies - narrow panel v0.5 SPTBN2 Ellen McDonagh gene: SPTBN2 was added
gene: SPTBN2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: SPTBN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SPTBN2 were set to Spinocerebellar ataxia 5 (AD); Spinocerebellar ataxia, autosomal recessive 14 (AR)
Ataxia and cerebellar anomalies - narrow panel v0.5 SLC2A1 Ellen McDonagh gene: SLC2A1 was added
gene: SLC2A1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v0.5 POLG Ellen McDonagh gene: POLG was added
gene: POLG was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
Ataxia and cerebellar anomalies - narrow panel v0.5 NAGLU Ellen McDonagh gene: NAGLU was added
gene: NAGLU was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: NAGLU was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NAGLU were set to PMID: 25818867
Phenotypes for gene: NAGLU were set to Sensory neuropathy turning into a mild sensory ataxia (AD). Also Sanfilippo syndrome B (AR) (OMIM #252920)
Mode of pathogenicity for gene: NAGLU was set to Other - please provide details in the comments
Ataxia and cerebellar anomalies - narrow panel v0.5 CLCN2 Ellen McDonagh gene: CLCN2 was added
gene: CLCN2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: CLCN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CLCN2 were set to 19191339; 23707145
Phenotypes for gene: CLCN2 were set to {Epilepsy, juvenile absence, susceptibility to, 2}, 607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; Leukoencephalopathy with ataxia, 615651
Ataxia and cerebellar anomalies - narrow panel v0.5 AFG3L2 Ellen McDonagh gene: AFG3L2 was added
gene: AFG3L2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: AFG3L2 were set to Spinocerebellar ataxia 28; Spinocerebellar Ataxia, Dominant; Ataxia, spastic, 5, autosomal recessive
Mode of pathogenicity for gene: AFG3L2 was set to Other - please provide details in the comments
Ataxia and cerebellar anomalies - narrow panel v0.5 SNX14 Ellen McDonagh Added phenotypes Spinocerebellar ataxia, autosomal recessive 20, 616354 for gene: SNX14
Publications for gene SNX14 were changed from to 25439728
Ataxia and cerebellar anomalies - narrow panel v0.5 SNX14 Ellen McDonagh gene: SNX14 was added
gene: SNX14 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: SNX14 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: SNX14 were set to Autosomal recessive spinocerebellar ataxia (#616354)
Ataxia and cerebellar anomalies - narrow panel v0.5 ITPR1 Ellen McDonagh Mode of pathogenicity for gene ITPR1 was changed from to Other - please provide details in the comments
Added phenotypes Spinocerebellar ataxia 29; Spinocerebellar ataxia 15 for gene: ITPR1
Ataxia and cerebellar anomalies - narrow panel v0.5 ITPR1 Ellen McDonagh gene: ITPR1 was added
gene: ITPR1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: ITPR1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: ITPR1 were set to Gillespie syndrome 206700; Spinocerebellar ataxia 15; Spinocerebellar ataxia 29, congenital nonprogressive
Ataxia and cerebellar anomalies - narrow panel v0.5 ZNF592 Ellen McDonagh gene: ZNF592 was added
gene: ZNF592 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: ZNF592 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZNF592 were set to Spinocerebellar ataxia, autosomal recessive 5
Ataxia and cerebellar anomalies - narrow panel v0.5 ZFYVE26 Ellen McDonagh gene: ZFYVE26 was added
gene: ZFYVE26 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZFYVE26 were set to PMID:25497598; 25842392
Phenotypes for gene: ZFYVE26 were set to Autosomal recessive spastic paraplegia 15 (#270700) complex form of the disease including ataxia. Pyle et al. (2015), Brain, 138, pp.276-283. Implicated in undiagnosed ataxia.
Ataxia and cerebellar anomalies - narrow panel v0.5 XRCC1 Ellen McDonagh gene: XRCC1 was added
gene: XRCC1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: XRCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC1 were set to 28002403
Phenotypes for gene: XRCC1 were set to ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia
Ataxia and cerebellar anomalies - narrow panel v0.5 WWOX Ellen McDonagh gene: WWOX was added
gene: WWOX was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WWOX were set to Autosomal recessive spinocerebellar ataxia 12 (#614322)
Ataxia and cerebellar anomalies - narrow panel v0.5 WFS1 Ellen McDonagh gene: WFS1 was added
gene: WFS1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: WFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v0.5 WDR81 Ellen McDonagh Added phenotypes Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 for gene: WDR81
Publications for gene WDR81 were changed from to 21885617
Ataxia and cerebellar anomalies - narrow panel v0.5 WDR81 Ellen McDonagh gene: WDR81 was added
gene: WDR81 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR81 were set to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
Ataxia and cerebellar anomalies - narrow panel v0.5 WDR73 Ellen McDonagh gene: WDR73 was added
gene: WDR73 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR73 were set to Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature
Ataxia and cerebellar anomalies - narrow panel v0.5 VRK1 Ellen McDonagh Added phenotypes Pontocerebellar hypoplasia 1A (#607596) for gene: VRK1
Ataxia and cerebellar anomalies - narrow panel v0.5 VRK1 Ellen McDonagh gene: VRK1 was added
gene: VRK1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VRK1 were set to PMID: 21937992; PMID: 19646678; 24126608
Phenotypes for gene: VRK1 were set to Pontocerebellar Hypoplasia; Pontocerebellar Hypoplasia with anterior horn cell disease; Pontocerebellar hypoplasia type 1A,607596; Pontocerebellar Hypoplasia with infantile SMA; Pontocerebellar Hypoplasia type 1A
Ataxia and cerebellar anomalies - narrow panel v0.5 VPS53 Ellen McDonagh Added phenotypes Pontocerebellar hypoplasia 2E (#615851) for gene: VPS53
Publications for gene VPS53 were changed from PMID: 24577744 to 24577744
Ataxia and cerebellar anomalies - narrow panel v0.5 VPS53 Ellen McDonagh gene: VPS53 was added
gene: VPS53 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber
Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS53 were set to PMID: 24577744
Phenotypes for gene: VPS53 were set to Pontocerebellar Hypoplasia; Pontocerebellar Hypoplasia type 2E
Ataxia and cerebellar anomalies - narrow panel v0.5 VPS13D Ellen McDonagh gene: VPS13D was added
gene: VPS13D was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: VPS13D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13D were set to spastic ataxia
Ataxia and cerebellar anomalies - narrow panel v0.5 VLDLR Ellen McDonagh Added phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050; Cerebellar Hypoplasia for gene: VLDLR
Publications for gene VLDLR were changed from to 18364738; 16080122
Ataxia and cerebellar anomalies - narrow panel v0.5 VLDLR Ellen McDonagh gene: VLDLR was added
gene: VLDLR was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v0.5 UCHL1 Ellen McDonagh gene: UCHL1 was added
gene: UCHL1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: UCHL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UCHL1 were set to PMID: 23359680
Phenotypes for gene: UCHL1 were set to Early onset ataxia and optic neuropathy
Ataxia and cerebellar anomalies - narrow panel v0.5 TUBA8 Ellen McDonagh gene: TUBA8 was added
gene: TUBA8 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber
Mode of inheritance for gene: TUBA8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBA8 were set to 19896110, 27781032
Phenotypes for gene: TUBA8 were set to Polymicrogyria with optic nerve hypoplasia, 613180
Ataxia and cerebellar anomalies - narrow panel v0.5 TTPA Ellen McDonagh gene: TTPA was added
gene: TTPA was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTPA were set to Ataxia with isolated vitamin E deficiency; Ataxia with Vitamin E Deficiency
Ataxia and cerebellar anomalies - narrow panel v0.5 TTC19 Ellen McDonagh gene: TTC19 was added
gene: TTC19 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC19 were set to Nuclear type mitochondrial complex III deficiency (#615157)
Ataxia and cerebellar anomalies - narrow panel v0.5 TSEN54 Ellen McDonagh Added phenotypes Pontocerebellar hypoplasia 2A (#277470) and 4 (#225753) for gene: TSEN54
Ataxia and cerebellar anomalies - narrow panel v0.5 TSEN54 Ellen McDonagh gene: TSEN54 was added
gene: TSEN54 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSEN54 were set to PMID: 20956791; PMID: 18711368; PMID: 20952379; PMID: 21368912
Phenotypes for gene: TSEN54 were set to Pontocerebellar Hypoplasia type 2A; Pontocerebellar hypoplasia type 2A, 277470; Pontocerebellar Hypoplasia type 4; Pontocerebellar hypoplasia type 4, 225753; Pontocerebellar Hypoplasia; Pontocerebellar Hypoplasia type 5
Ataxia and cerebellar anomalies - narrow panel v0.5 TSEN34 Ellen McDonagh Added phenotypes Pontocerebellar hypoplasia 2C (612390) for gene: TSEN34
Ataxia and cerebellar anomalies - narrow panel v0.5 TSEN34 Ellen McDonagh gene: TSEN34 was added
gene: TSEN34 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: TSEN34 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSEN34 were set to PMID: 18711368
Phenotypes for gene: TSEN34 were set to Pontocerebellar hypoplasia type 2C,612390; Pontocerebellar Hypoplasia type 2C; Pontocerebellar Hypoplasia
Ataxia and cerebellar anomalies - narrow panel v0.5 TSEN2 Ellen McDonagh Added phenotypes Pontocerebellar Hypoplasia; Pontocerebellar Hypoplasia type 2B; Pontocerebellar hypoplasia type 2B,612389 for gene: TSEN2
Publications for gene TSEN2 were changed from to PMID: 18711368; PMID: 23562994; PMID: 20952379
Ataxia and cerebellar anomalies - narrow panel v0.5 TSEN2 Ellen McDonagh gene: TSEN2 was added
gene: TSEN2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN2 were set to Pontocerebellar hypoplasia 2B (612389)
Ataxia and cerebellar anomalies - narrow panel v0.5 TSEN15 Ellen McDonagh gene: TSEN15 was added
gene: TSEN15 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: TSEN15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSEN15 were set to 27392077
Phenotypes for gene: TSEN15 were set to Pontocerebellar hypoplasia, type 2F 617026
Ataxia and cerebellar anomalies - narrow panel v0.5 TPP1 Ellen McDonagh gene: TPP1 was added
gene: TPP1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPP1 were set to Autosomal recessive spinocerebellar ataxia 7 (#607998); Neuronal ceroid lipfuscinosis 7 (204500)
Ataxia and cerebellar anomalies - narrow panel v0.5 TOE1 Ellen McDonagh gene: TOE1 was added
gene: TOE1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: TOE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOE1 were set to 28092684
Phenotypes for gene: TOE1 were set to Pontocerebellar hypoplasia, type 7 614969
Ataxia and cerebellar anomalies - narrow panel v0.5 TMEM5 Ellen McDonagh gene: TMEM5 was added
gene: TMEM5 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM5 were set to 23217329
Phenotypes for gene: TMEM5 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Ataxia and cerebellar anomalies - narrow panel v0.5 TERT Ellen McDonagh gene: TERT was added
gene: TERT was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber
Mode of inheritance for gene: TERT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TERT were set to 17785587; 16247010
Phenotypes for gene: TERT were set to dyskeratosis congenita-2
Ataxia and cerebellar anomalies - narrow panel v0.5 TDP1 Ellen McDonagh gene: TDP1 was added
gene: TDP1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: TDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TDP1 were set to Spinocerebellar ataxia, autosomal recessive with axonal neuropathy
Ataxia and cerebellar anomalies - narrow panel v0.5 SYT14 Ellen McDonagh gene: SYT14 was added
gene: SYT14 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: SYT14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SYT14 were set to Spinocerebellarataxia,autosomalrecessive11,614229
Ataxia and cerebellar anomalies - narrow panel v0.5 SYNE1 Ellen McDonagh gene: SYNE1 was added
gene: SYNE1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SYNE1 were set to Cerebellar Ataxia; Spinocerebellar ataxia, autosomal recessive 8
Ataxia and cerebellar anomalies - narrow panel v0.5 STUB1 Ellen McDonagh Added phenotypes Spinocerebellar ataxia, autosomal recessive 16 615768 for gene: STUB1
Publications for gene STUB1 were changed from to 24312598
Ataxia and cerebellar anomalies - narrow panel v0.5 STUB1 Ellen McDonagh gene: STUB1 was added
gene: STUB1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: STUB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STUB1 were set to Spinocerebellar ataxia, autosomal recessive 16
Ataxia and cerebellar anomalies - narrow panel v0.5 SRD5A3 Ellen McDonagh gene: SRD5A3 was added
gene: SRD5A3 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v0.5 SPG7 Ellen McDonagh gene: SPG7 was added
gene: SPG7 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG7 were set to PMID: 25681447
Phenotypes for gene: SPG7 were set to Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia
Ataxia and cerebellar anomalies - narrow panel v0.5 SMPD4 Ellen McDonagh gene: SMPD4 was added
gene: SMPD4 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber
Mode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMPD4 were set to cerebellar hypoplasia, hypomyelination, microcephaly, arthrogryposis, diabetes
Ataxia and cerebellar anomalies - narrow panel v0.5 SIL1 Ellen McDonagh gene: SIL1 was added
gene: SIL1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v0.5 SETX Ellen McDonagh gene: SETX was added
gene: SETX was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SETX were set to Ataxia-ocular apraxia-2; ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia
Ataxia and cerebellar anomalies - narrow panel v0.5 SEPSECS Ellen McDonagh Added phenotypes Pontocerebellar hypoplasia type 2D (613811) for gene: SEPSECS
Ataxia and cerebellar anomalies - narrow panel v0.5 SEPSECS Ellen McDonagh gene: SEPSECS was added
gene: SEPSECS was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEPSECS were set to PMID: 12920088; PMID: 20920667
Phenotypes for gene: SEPSECS were set to Pontocerebellar Hypoplasia; Pontocerebellar hypoplasia type 2D, 613811; Pontocerebellar Hypoplasia type 2D
Ataxia and cerebellar anomalies - narrow panel v0.5 SACS Ellen McDonagh gene: SACS was added
gene: SACS was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type
Ataxia and cerebellar anomalies - narrow panel v0.5 RUBCN Ellen McDonagh gene: RUBCN was added
gene: RUBCN was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: RUBCN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RUBCN were set to PMID: 20826435
Ataxia and cerebellar anomalies - narrow panel v0.5 RNF216 Ellen McDonagh gene: RNF216 was added
gene: RNF216 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism, 212840
Ataxia and cerebellar anomalies - narrow panel v0.5 RELN Ellen McDonagh gene: RELN was added
gene: RELN was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: RELN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RELN were set to 10973257
Phenotypes for gene: RELN were set to Lissencephaly 2, 257320
Ataxia and cerebellar anomalies - narrow panel v0.5 RARS2 Ellen McDonagh Added phenotypes epilepsy; Pontocerebellar hypoplasia for gene: RARS2
Ataxia and cerebellar anomalies - narrow panel v0.5 RARS2 Ellen McDonagh gene: RARS2 was added
gene: RARS2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RARS2 were set to PMID: 25809939; PMID: 17847012; PMID: 20635367
Phenotypes for gene: RARS2 were set to Pontocerebellar hypoplasia, type 6, 611523; Pontocerebellar Hypoplasia; Pontocerebellar Hypoplasia type 6
Ataxia and cerebellar anomalies - narrow panel v0.5 PTF1A Ellen McDonagh gene: PTF1A was added
gene: PTF1A was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTF1A were set to 15543146
Phenotypes for gene: PTF1A were set to Pancreatic and cerebellar agenesis, 609069
Ataxia and cerebellar anomalies - narrow panel v0.5 PRICKLE1 Ellen McDonagh gene: PRICKLE1 was added
gene: PRICKLE1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: PRICKLE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRICKLE1 were set to Progressive Myoclonus Epilepsy with Ataxia
Ataxia and cerebellar anomalies - narrow panel v0.5 POMT2 Ellen McDonagh gene: POMT2 was added
gene: POMT2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMT2 were set to 15894594
Phenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Ataxia and cerebellar anomalies - narrow panel v0.5 POMT1 Ellen McDonagh gene: POMT1 was added
gene: POMT1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMT1 were set to 12369018
Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670
Ataxia and cerebellar anomalies - narrow panel v0.5 POMK Ellen McDonagh gene: POMK was added
gene: POMK was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMK were set to 24925318
Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 615249
Ataxia and cerebellar anomalies - narrow panel v0.5 POMGNT2 Ellen McDonagh gene: POMGNT2 was added
gene: POMGNT2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMGNT2 were set to 22958903
Phenotypes for gene: POMGNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type
Ataxia and cerebellar anomalies - narrow panel v0.5 POMGNT1 Ellen McDonagh gene: POMGNT1 was added
gene: POMGNT1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMGNT1 were set to 11709191, 15236414
Phenotypes for gene: POMGNT1 were set to Congenital Muscular Dystrophy, alpha-dystroglycan related; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Ataxia and cerebellar anomalies - narrow panel v0.5 POLR3A Ellen McDonagh gene: POLR3A was added
gene: POLR3A was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3A were set to 25655951; 21855841
Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Autosomal Recessive Ataxia
Ataxia and cerebellar anomalies - narrow panel v0.5 PNPLA6 Ellen McDonagh gene: PNPLA6 was added
gene: PNPLA6 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA6 were set to Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470); Oliver-McFarlane syndrome (#603197); Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients
Ataxia and cerebellar anomalies - narrow panel v0.5 PNKP Ellen McDonagh gene: PNKP was added
gene: PNKP was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNKP were set to Ataxia with oculomotor apraxia 4 (#616267)
Ataxia and cerebellar anomalies - narrow panel v0.5 PMPCA Ellen McDonagh Source Expert Review Red was added to PMPCA.
Added phenotypes Spinocerebellar ataxia, autosomal recessive 2 213200 AR for gene: PMPCA
Publications for gene PMPCA were changed from PMID:25808372 to PubMed: 10528257, 25808372
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ataxia and cerebellar anomalies - narrow panel v0.5 PMPCA Ellen McDonagh gene: PMPCA was added
gene: PMPCA was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMPCA were set to PMID:25808372
Phenotypes for gene: PMPCA were set to Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families.
Ataxia and cerebellar anomalies - narrow panel v0.5 PLA2G6 Ellen McDonagh gene: PLA2G6 was added
gene: PLA2G6 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLA2G6 were set to Infantile neuroaxonal dystrophy 1 (#256600); Parkinson disease 14 (#612953); Neurodegeneration with brain iron accumulation 2B (#610217)
Ataxia and cerebellar anomalies - narrow panel v0.5 PIK3R5 Ellen McDonagh gene: PIK3R5 was added
gene: PIK3R5 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: PIK3R5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIK3R5 were set to Ataxia-oculomotor apraxia 3
Ataxia and cerebellar anomalies - narrow panel v0.5 PI4KA Ellen McDonagh gene: PI4KA was added
gene: PI4KA was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PI4KA were set to 25855803
Phenotypes for gene: PI4KA were set to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis , 616531
Ataxia and cerebellar anomalies - narrow panel v0.5 PHGDH Ellen McDonagh gene: PHGDH was added
gene: PHGDH was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber
Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHGDH were set to 24836451
Phenotypes for gene: PHGDH were set to Neu-Laxova syndrome 1, 256520
Ataxia and cerebellar anomalies - narrow panel v0.5 PEX16 Ellen McDonagh gene: PEX16 was added
gene: PEX16 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX16 were set to Zellweger syndrome (614876); Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis
Ataxia and cerebellar anomalies - narrow panel v0.5 PCLO Ellen McDonagh Added phenotypes Pontocerebellar Hypoplasia type 3 for gene: PCLO
Ataxia and cerebellar anomalies - narrow panel v0.5 PCLO Ellen McDonagh gene: PCLO was added
gene: PCLO was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: PCLO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCLO were set to PMID: 25832664
Phenotypes for gene: PCLO were set to Pontocerebellar hypoplasia 3 homozygous non-sense variant identified in the affected individuals of a single pedigree.
Ataxia and cerebellar anomalies - narrow panel v0.5 PAX6 Ellen McDonagh gene: PAX6 was added
gene: PAX6 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: PAX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PAX6 were set to Aniridia, Cerebellar Ataxia, And Mental Retardation
Ataxia and cerebellar anomalies - narrow panel v0.5 OPA3 Ellen McDonagh gene: OPA3 was added
gene: OPA3 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OPA3 were set to 25201222; 25657044; 11668429; 20301646; 24944951
Phenotypes for gene: OPA3 were set to Costeff syndrome; 3-methylglutaconic aciduria, type III, 258501
Ataxia and cerebellar anomalies - narrow panel v0.5 NPC2 Ellen McDonagh gene: NPC2 was added
gene: NPC2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC2 were set to Niemann-Pick disease type C2 (#607625)
Ataxia and cerebellar anomalies - narrow panel v0.5 NPC1 Ellen McDonagh gene: NPC1 was added
gene: NPC1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC1 were set to Niemann-Pick disease types C1 and D (#257220)
Ataxia and cerebellar anomalies - narrow panel v0.5 MVK Ellen McDonagh gene: MVK was added
gene: MVK was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MVK were set to 24896178; 26503795
Phenotypes for gene: MVK were set to Mevalonic aciduria 610377
Ataxia and cerebellar anomalies - narrow panel v0.5 MTTP Ellen McDonagh gene: MTTP was added
gene: MTTP was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTTP were set to Abetalipoproteinemia, 200100
Ataxia and cerebellar anomalies - narrow panel v0.5 MTPAP Ellen McDonagh gene: MTPAP was added
gene: MTPAP was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTPAP were set to Ataxia, spastic, 4,
Ataxia and cerebellar anomalies - narrow panel v0.5 MRE11 Ellen McDonagh gene: MRE11 was added
gene: MRE11 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRE11 were set to Ataxia-telangiectasia-like disorder; Ataxia-Telangiectasia-Like Disorder
Ataxia and cerebellar anomalies - narrow panel v0.5 MMACHC Ellen McDonagh gene: MMACHC was added
gene: MMACHC was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMACHC were set to PMID: 26283149
Phenotypes for gene: MMACHC were set to Ataxia and hypogonadism (AR), Also Methylmalonic aciduria and homocystinuria (AR) (OMIM #277400)
Ataxia and cerebellar anomalies - narrow panel v0.5 MARS2 Ellen McDonagh gene: MARS2 was added
gene: MARS2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MARS2 were set to PubMed: 22448145
Phenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive
Ataxia and cerebellar anomalies - narrow panel v0.5 LARGE1 Ellen McDonagh gene: LARGE1 was added
gene: LARGE1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LARGE1 were set to 17436019, 24709677
Phenotypes for gene: LARGE1 were set to Congenital Muscular Dystrophy, alpha-dystroglycan related; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Ataxia and cerebellar anomalies - narrow panel v0.5 KIF1C Ellen McDonagh gene: KIF1C was added
gene: KIF1C was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: KIF1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1C were set to Spastic ataxia 2,autosomal recessive
Ataxia and cerebellar anomalies - narrow panel v0.5 KCNJ10 Ellen McDonagh gene: KCNJ10 was added
gene: KCNJ10 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ10 were set to Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome
Ataxia and cerebellar anomalies - narrow panel v0.5 ISPD Ellen McDonagh gene: ISPD was added
gene: ISPD was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISPD were set to 22522420
Phenotypes for gene: ISPD were set to Congenital Muscular Dystrophy, alpha-dystroglycan related; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Ataxia and cerebellar anomalies - narrow panel v0.5 HEXB Ellen McDonagh gene: HEXB was added
gene: HEXB was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v0.5 HEXA Ellen McDonagh gene: HEXA was added
gene: HEXA was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v0.5 GRM1 Ellen McDonagh gene: GRM1 was added
gene: GRM1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: GRM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRM1 were set to Spinocerebellar ataxia, autosomal recessive 13
Ataxia and cerebellar anomalies - narrow panel v0.5 GRID2 Ellen McDonagh gene: GRID2 was added
gene: GRID2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: GRID2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRID2 were set to PMID: 25841024
Phenotypes for gene: GRID2 were set to Rare cases of autosomal dominant inheritance reported by Coutelier et al., 2015.; Autosomal recessive spinocerebellar ataxia 18 (#616204)
Ataxia and cerebellar anomalies - narrow panel v0.5 GPAA1 Ellen McDonagh gene: GPAA1 was added
gene: GPAA1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPAA1 were set to 29100095; 24896178
Phenotypes for gene: GPAA1 were set to Glycosylphosphatidylinositol biosynthesis defect 15, 617810
Ataxia and cerebellar anomalies - narrow panel v0.5 GOSR2 Ellen McDonagh gene: GOSR2 was added
gene: GOSR2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: GOSR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GOSR2 were set to 24285620; 21549339; 20301317
Phenotypes for gene: GOSR2 were set to Epilepsy, progressive myoclonic 6, 614018
Ataxia and cerebellar anomalies - narrow panel v0.5 GMPPB Ellen McDonagh gene: GMPPB was added
gene: GMPPB was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GMPPB were set to 23768512
Phenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Ataxia and cerebellar anomalies - narrow panel v0.5 GJC2 Ellen McDonagh gene: GJC2 was added
gene: GJC2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GJC2 were set to Leukodystrophy, hypomyelinating, 2; Autosomal Recessive Ataxia
Ataxia and cerebellar anomalies - narrow panel v0.5 GBA2 Ellen McDonagh gene: GBA2 was added
gene: GBA2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v0.5 FXN Ellen McDonagh gene: FXN was added
gene: FXN was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FXN were set to Friedreichataxia,229300Friedreichataxiawithretainedreflexes,229300
Ataxia and cerebellar anomalies - narrow panel v0.5 FRMD4A Ellen McDonagh gene: FRMD4A was added
gene: FRMD4A was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: FRMD4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRMD4A were set to 25388005
Phenotypes for gene: FRMD4A were set to Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819
Ataxia and cerebellar anomalies - narrow panel v0.5 FOLR1 Ellen McDonagh gene: FOLR1 was added
gene: FOLR1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v0.5 FLVCR1 Ellen McDonagh gene: FLVCR1 was added
gene: FLVCR1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLVCR1 were set to Posterior Column Ataxia with Retinitis Pigmentosa; Ataxia, posterior column, with retinitis pigmentosa,
Ataxia and cerebellar anomalies - narrow panel v0.5 FKTN Ellen McDonagh gene: FKTN was added
gene: FKTN was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKTN were set to 9690476; 10545611
Phenotypes for gene: FKTN were set to Fukuyama Congenital Muscular Dystrophy; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; Fukuyama congenital muscular dystrophy
Ataxia and cerebellar anomalies - narrow panel v0.5 FKRP Ellen McDonagh gene: FKRP was added
gene: FKRP was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKRP were set to 15121789
Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Ataxia and cerebellar anomalies - narrow panel v0.5 EXOSC3 Ellen McDonagh Added phenotypes Pontocerebellar Hypoplasia; Pontocerebellar hypoplasia, type 1B, 614678; Pontocerebellar Hypoplasia type 1B for gene: EXOSC3
Publications for gene EXOSC3 were changed from to PMID: 24524299; PMID: 23284067; PMID: 22544365; PMID: 23564332
Ataxia and cerebellar anomalies - narrow panel v0.5 EXOSC3 Ellen McDonagh gene: EXOSC3 was added
gene: EXOSC3 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v0.5 EIF2B5 Ellen McDonagh gene: EIF2B5 was added
gene: EIF2B5 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B5 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Ataxia and cerebellar anomalies - narrow panel v0.5 EIF2B4 Ellen McDonagh gene: EIF2B4 was added
gene: EIF2B4 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B4 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Ataxia and cerebellar anomalies - narrow panel v0.5 EIF2B3 Ellen McDonagh gene: EIF2B3 was added
gene: EIF2B3 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B3 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Ataxia and cerebellar anomalies - narrow panel v0.5 EIF2B2 Ellen McDonagh gene: EIF2B2 was added
gene: EIF2B2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B2 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Ataxia and cerebellar anomalies - narrow panel v0.5 EIF2B1 Ellen McDonagh gene: EIF2B1 was added
gene: EIF2B1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B1 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter
Ataxia and cerebellar anomalies - narrow panel v0.5 DDHD2 Ellen McDonagh gene: DDHD2 was added
gene: DDHD2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDHD2 were set to Autosomal recessive paraplegia 54 (#615033). Complex form of disease ataxia reported amongst the phenotypic features in Citterio et al. (2014), Journal of Neurology, 261, pp.373-381 and Doi et al. (2014), Scientific Reports, 4, 7132.
Ataxia and cerebellar anomalies - narrow panel v0.5 DCC Ellen McDonagh gene: DCC was added
gene: DCC was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber
Mode of inheritance for gene: DCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCC were set to 28250456
Phenotypes for gene: DCC were set to Gaze palsy, familial horizontal, with progressive scoliosis 2, 617542
Ataxia and cerebellar anomalies - narrow panel v0.5 DARS2 Ellen McDonagh gene: DARS2 was added
gene: DARS2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v0.5 CYP2U1 Ellen McDonagh gene: CYP2U1 was added
gene: CYP2U1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP2U1 were set to Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients.
Ataxia and cerebellar anomalies - narrow panel v0.5 CYP27A1 Ellen McDonagh gene: CYP27A1 was added
gene: CYP27A1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v0.5 CWF19L1 Ellen McDonagh gene: CWF19L1 was added
gene: CWF19L1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CWF19L1 were set to 26197978, 25361784, 27016154
Phenotypes for gene: CWF19L1 were set to Spinocerebellar ataxia, autosomal recessive 17, 616127
Ataxia and cerebellar anomalies - narrow panel v0.5 CSTB Ellen McDonagh gene: CSTB was added
gene: CSTB was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSTB were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800
Ataxia and cerebellar anomalies - narrow panel v0.5 CP Ellen McDonagh gene: CP was added
gene: CP was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CP were set to Cerebellar ataxia,
Ataxia and cerebellar anomalies - narrow panel v0.5 COX20 Ellen McDonagh gene: COX20 was added
gene: COX20 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v0.5 COQ8A Ellen McDonagh gene: COQ8A was added
gene: COQ8A was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type
Ataxia and cerebellar anomalies - narrow panel v0.5 COASY Ellen McDonagh gene: COASY was added
gene: COASY was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COASY were set to 24360804; 30089828
Phenotypes for gene: COASY were set to Severe prenatal onset pontocerebellar hypoplasia, microcephaly, arthrogryposis
Ataxia and cerebellar anomalies - narrow panel v0.5 CLP1 Ellen McDonagh Source Expert Review Red was added to CLP1.
Added phenotypes Pontocerebellar hypoplasia 10 (#615803) for gene: CLP1
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ataxia and cerebellar anomalies - narrow panel v0.5 CLP1 Ellen McDonagh gene: CLP1 was added
gene: CLP1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLP1 were set to PMID: 24766810
Phenotypes for gene: CLP1 were set to Pontocerebellar Hypoplasia; Pontocerebellar Hypoplasia type 10
Ataxia and cerebellar anomalies - narrow panel v0.5 CLN6 Ellen McDonagh gene: CLN6 was added
gene: CLN6 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN6 were set to Neuronal ceroid lipofuscinosis 6 (#601780) and adult onset form (#204300)
Ataxia and cerebellar anomalies - narrow panel v0.5 CHMP1A Ellen McDonagh Added phenotypes Pontocerebellar Hypoplasia; Pontocerebellar Hypoplasia type 8; Pontocerebellar hypoplasia,type 8,614961 for gene: CHMP1A
Publications for gene CHMP1A were changed from to PMID: 23023333
Ataxia and cerebellar anomalies - narrow panel v0.5 CHMP1A Ellen McDonagh gene: CHMP1A was added
gene: CHMP1A was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: CHMP1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHMP1A were set to Pontocerebellar hypoplasia 8 (#614961)
Ataxia and cerebellar anomalies - narrow panel v0.5 CDK5 Ellen McDonagh gene: CDK5 was added
gene: CDK5 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: CDK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK5 were set to 25560765, 15067135
Phenotypes for gene: CDK5 were set to Lissencephaly 7 with cerebellar hypoplasia 616342
Ataxia and cerebellar anomalies - narrow panel v0.5 CA8 Ellen McDonagh Added phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 613227 for gene: CA8
Publications for gene CA8 were changed from to 21885617
Ataxia and cerebellar anomalies - narrow panel v0.5 CA8 Ellen McDonagh gene: CA8 was added
gene: CA8 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: CA8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA8 were set to Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3
Ataxia and cerebellar anomalies - narrow panel v0.5 BRF1 Ellen McDonagh gene: BRF1 was added
gene: BRF1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: BRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRF1 were set to 25561519
Phenotypes for gene: BRF1 were set to Cerebellofaciodental syndrome 616202
Ataxia and cerebellar anomalies - narrow panel v0.5 B4GAT1 Ellen McDonagh gene: B4GAT1 was added
gene: B4GAT1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber
Mode of inheritance for gene: B4GAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GAT1 were set to 23359570
Phenotypes for gene: B4GAT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287
Ataxia and cerebellar anomalies - narrow panel v0.5 B3GALNT2 Ellen McDonagh gene: B3GALNT2 was added
gene: B3GALNT2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GALNT2 were set to 23453667
Phenotypes for gene: B3GALNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11; congenital muscular dystrophies
Ataxia and cerebellar anomalies - narrow panel v0.5 ATP8A2 Ellen McDonagh Publications for gene ATP8A2 were changed from 22892528 to PMID: 22892528
Ataxia and cerebellar anomalies - narrow panel v0.5 ATP8A2 Ellen McDonagh gene: ATP8A2 was added
gene: ATP8A2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber
Mode of inheritance for gene: ATP8A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP8A2 were set to 22892528
Phenotypes for gene: ATP8A2 were set to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 615268
Ataxia and cerebellar anomalies - narrow panel v0.5 ATM Ellen McDonagh gene: ATM was added
gene: ATM was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to Ataxia-telangiectasia,; Ataxia-Telangiectasia
Ataxia and cerebellar anomalies - narrow panel v0.5 ATCAY Ellen McDonagh gene: ATCAY was added
gene: ATCAY was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: ATCAY was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATCAY were set to Ataxia, cerebellar, Cayman type; Cerebellar Ataxia, Cayman type
Ataxia and cerebellar anomalies - narrow panel v0.5 ARSA Ellen McDonagh gene: ARSA was added
gene: ARSA was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy (#250100)
Ataxia and cerebellar anomalies - narrow panel v0.5 APTX Ellen McDonagh gene: APTX was added
gene: APTX was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APTX were set to Ataxia with Oculomotor Apraxia; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Ataxia and cerebellar anomalies - narrow panel v0.5 ANO10 Ellen McDonagh gene: ANO10 was added
gene: ANO10 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: ANO10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANO10 were set to Spinocerebellar ataxia, autosomal recessive 10,
Ataxia and cerebellar anomalies - narrow panel v0.5 AMPD2 Ellen McDonagh Added phenotypes Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014).; Pontocerebellar hypoplasia 9 (#615809) for gene: AMPD2
Publications for gene AMPD2 were changed from Akizu, N., Cantagrel, V., Schroth, J., Cai, N., Vaux, K., McCloskey, D., Naviaux, R. K., Van Vleet, J., Fenstermaker, A. G., Silhavy, J. L., Scheliga, J. S., Toyama, K., and 16 others. AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. Cell 154: 505-517, 2013. http://www.omim.org/clinicalSynopsis/615809; 27066553; 23911318 to PMID: 24482476
Ataxia and cerebellar anomalies - narrow panel v0.5 AMPD2 Ellen McDonagh gene: AMPD2 was added
gene: AMPD2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMPD2 were set to Akizu, N., Cantagrel, V., Schroth, J., Cai, N., Vaux, K., McCloskey, D., Naviaux, R. K., Van Vleet, J., Fenstermaker, A. G., Silhavy, J. L., Scheliga, J. S., Toyama, K., and 16 others. AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. Cell 154: 505-517, 2013. http://www.omim.org/clinicalSynopsis/615809; 27066553; 23911318
Phenotypes for gene: AMPD2 were set to pontocerebellar hypoplasia type 9, 615809
Ataxia and cerebellar anomalies - narrow panel v0.5 ADGRG1 Ellen McDonagh gene: ADGRG1 was added
gene: ADGRG1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADGRG1 were set to 15044805
Phenotypes for gene: ADGRG1 were set to Polymicrogyria, bilateral frontoparietal 606854
Ataxia and cerebellar anomalies - narrow panel v0.5 ABHD12 Ellen McDonagh gene: ABHD12 was added
gene: ABHD12 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABHD12 were set to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC); Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Ataxia and cerebellar anomalies - narrow panel v0.5 AAAS Ellen McDonagh gene: AAAS was added
gene: AAAS was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia v1.141 SLC2A1 Sarah Leigh Classified gene: SLC2A1 as Red List (low evidence)
Hereditary spastic paraplegia v1.141 SLC2A1 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Hereditary spastic paraplegia v1.141 SLC2A1 Sarah Leigh Gene: slc2a1 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.140 RAB3GAP2 Sarah Leigh Classified gene: RAB3GAP2 as Red List (low evidence)
Hereditary spastic paraplegia v1.140 RAB3GAP2 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Hereditary spastic paraplegia v1.140 RAB3GAP2 Sarah Leigh Gene: rab3gap2 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.139 LYST Sarah Leigh Classified gene: LYST as Red List (low evidence)
Hereditary spastic paraplegia v1.139 LYST Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Hereditary spastic paraplegia v1.139 LYST Sarah Leigh Gene: lyst has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.138 KLC4 Sarah Leigh Classified gene: KLC4 as Red List (low evidence)
Hereditary spastic paraplegia v1.138 KLC4 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Hereditary spastic paraplegia v1.138 KLC4 Sarah Leigh Gene: klc4 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.137 KDM5C Sarah Leigh Classified gene: KDM5C as Red List (low evidence)
Hereditary spastic paraplegia v1.137 KDM5C Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Hereditary spastic paraplegia v1.137 KDM5C Sarah Leigh Gene: kdm5c has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.136 HACE1 Sarah Leigh Classified gene: HACE1 as Red List (low evidence)
Hereditary spastic paraplegia v1.136 HACE1 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Hereditary spastic paraplegia v1.136 HACE1 Sarah Leigh Gene: hace1 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.135 HACE1 Sarah Leigh Classified gene: HACE1 as Red List (low evidence)
Hereditary spastic paraplegia v1.135 HACE1 Sarah Leigh Gene: hace1 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.134 ERLIN1 Sarah Leigh Classified gene: ERLIN1 as Red List (low evidence)
Hereditary spastic paraplegia v1.134 ERLIN1 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Hereditary spastic paraplegia v1.134 ERLIN1 Sarah Leigh Gene: erlin1 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.133 DARS Sarah Leigh Classified gene: DARS as Red List (low evidence)
Hereditary spastic paraplegia v1.133 DARS Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Hereditary spastic paraplegia v1.133 DARS Sarah Leigh Gene: dars has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.132 CYP27A1 Sarah Leigh Classified gene: CYP27A1 as Red List (low evidence)
Hereditary spastic paraplegia v1.132 CYP27A1 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Hereditary spastic paraplegia v1.132 CYP27A1 Sarah Leigh Gene: cyp27a1 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.131 ATP13A2 Sarah Leigh Classified gene: ATP13A2 as Red List (low evidence)
Hereditary spastic paraplegia v1.131 ATP13A2 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Hereditary spastic paraplegia v1.131 ATP13A2 Sarah Leigh Gene: atp13a2 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.130 ARG1 Sarah Leigh Classified gene: ARG1 as Red List (low evidence)
Hereditary spastic paraplegia v1.130 ARG1 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Hereditary spastic paraplegia v1.130 ARG1 Sarah Leigh Gene: arg1 has been classified as Red List (Low Evidence).
Hereditary spastic paraplegia v1.129 ABCD1 Sarah Leigh Classified gene: ABCD1 as Red List (low evidence)
Hereditary spastic paraplegia v1.129 ABCD1 Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating.
Hereditary spastic paraplegia v1.129 ABCD1 Sarah Leigh Gene: abcd1 has been classified as Red List (Low Evidence).
White matter disorders and cerebral calcification - narrow panel v0.11 GJB1 Ellen McDonagh gene: GJB1 was added
gene: GJB1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1
White matter disorders and cerebral calcification - narrow panel v0.11 POLG2 Ellen McDonagh gene: POLG2 was added
gene: POLG2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: POLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: POLG2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
White matter disorders and cerebral calcification - narrow panel v0.11 TREX1 Ellen McDonagh Added phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive 225750; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Vasculopathy, retinal, with cerebral leukodystrophy 192315 for gene: TREX1
White matter disorders and cerebral calcification - narrow panel v0.11 SLC25A12 Ellen McDonagh gene: SLC25A12 was added
gene: SLC25A12 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A12 were set to Hypomyelination, global cerebral
White matter disorders and cerebral calcification - narrow panel v0.11 SDHD Ellen McDonagh gene: SDHD was added
gene: SDHD was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: SDHD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHD were set to Mitochondrial complex II deficiency
White matter disorders and cerebral calcification - narrow panel v0.11 SCP2 Ellen McDonagh gene: SCP2 was added
gene: SCP2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: SCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCP2 were set to Leukoencephalopathy with dystonia and motor neuropathy
White matter disorders and cerebral calcification - narrow panel v0.11 SCO2 Ellen McDonagh gene: SCO2 was added
gene: SCO2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO2 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
White matter disorders and cerebral calcification - narrow panel v0.11 SCO1 Ellen McDonagh gene: SCO1 was added
gene: SCO1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO1 were set to Mitochondrial complex IV deficiency
White matter disorders and cerebral calcification - narrow panel v0.11 RNASET2 Ellen McDonagh gene: RNASET2 was added
gene: RNASET2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASET2 were set to Leukoencephalopathy, cystic, without megalencephaly
White matter disorders and cerebral calcification - narrow panel v0.11 PSAP Ellen McDonagh gene: PSAP was added
gene: PSAP was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSAP were set to 249900
Phenotypes for gene: PSAP were set to Combined SAP deficiency
White matter disorders and cerebral calcification - narrow panel v0.11 POLR3A Ellen McDonagh gene: POLR3A was added
gene: POLR3A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
White matter disorders and cerebral calcification - narrow panel v0.11 POLR1C Ellen McDonagh gene: POLR1C was added
gene: POLR1C was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR1C were set to Leukodystrophy, hypomyelinating, 11
White matter disorders and cerebral calcification - narrow panel v0.11 POLG Ellen McDonagh gene: POLG was added
gene: POLG was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662
White matter disorders and cerebral calcification - narrow panel v0.11 PEX19 Ellen McDonagh gene: PEX19 was added
gene: PEX19 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber
Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX19 were set to Peroxisome biogenesis disorder 12A (Zellweger)
White matter disorders and cerebral calcification - narrow panel v0.11 NKX6-2 Ellen McDonagh gene: NKX6-2 was added
gene: NKX6-2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
White matter disorders and cerebral calcification - narrow panel v0.11 NDUFAF3 Ellen McDonagh gene: NDUFAF3 was added
gene: NDUFAF3 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: NDUFAF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF3 were set to Mitochondrial complex I deficiency
White matter disorders and cerebral calcification - narrow panel v0.11 MCOLN1 Ellen McDonagh gene: MCOLN1 was added
gene: MCOLN1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCOLN1 were set to Mucolipidosis IV
White matter disorders and cerebral calcification - narrow panel v0.11 GALC Ellen McDonagh gene: GALC was added
gene: GALC was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALC were set to Krabbe disease
White matter disorders and cerebral calcification - narrow panel v0.11 FOLR1 Ellen McDonagh gene: FOLR1 was added
gene: FOLR1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency
White matter disorders and cerebral calcification - narrow panel v0.11 DPYD Ellen McDonagh gene: DPYD was added
gene: DPYD was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: DPYD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPYD were set to Dihydropyrimidine dehydrogenase deficiency; 5-fluorouracil toxicity 274270
White matter disorders and cerebral calcification - narrow panel v0.11 DARS Ellen McDonagh gene: DARS was added
gene: DARS was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS were set to Hypomyelination with brainstem and spinal cord involvement and leg spasticity
White matter disorders and cerebral calcification - narrow panel v0.11 ARSA Ellen McDonagh gene: ARSA was added
gene: ARSA was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy (Arylsulfatase A Deficiency)
White matter disorders and cerebral calcification - narrow panel v0.11 AIMP1 Ellen McDonagh gene: AIMP1 was added
gene: AIMP1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AIMP1 were set to Leukodystrophy, hypomyelinating, 3
White matter disorders and cerebral calcification - narrow panel v0.11 TUBB2B Ellen McDonagh gene: TUBB2B was added
gene: TUBB2B was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: TUBB2B was set to Unknown
Phenotypes for gene: TUBB2B were set to Cerebral Malformation Disorders
White matter disorders and cerebral calcification - narrow panel v0.11 TUBA8 Ellen McDonagh gene: TUBA8 was added
gene: TUBA8 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: TUBA8 was set to Unknown
Phenotypes for gene: TUBA8 were set to Cerebral Malformation Disorders
White matter disorders and cerebral calcification - narrow panel v0.11 PMP22 Ellen McDonagh gene: PMP22 was added
gene: PMP22 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: PMP22 was set to Unknown
Phenotypes for gene: PMP22 were set to Neuropathy,inflammatory demyelinating,139393
White matter disorders and cerebral calcification - narrow panel v0.11 NOTCH3 Ellen McDonagh gene: NOTCH3 was added
gene: NOTCH3 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: NOTCH3 was set to Unknown
Phenotypes for gene: NOTCH3 were set to CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY
White matter disorders and cerebral calcification - narrow panel v0.11 MAT1A Ellen McDonagh gene: MAT1A was added
gene: MAT1A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: MAT1A was set to Unknown
Publications for gene: MAT1A were set to 8770875
Phenotypes for gene: MAT1A were set to Calcifications in basal ganglia; Methionine adenosyltransferase deficiency, autosomal recessive
White matter disorders and cerebral calcification - narrow panel v0.11 HTRA1 Ellen McDonagh gene: HTRA1 was added
gene: HTRA1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: HTRA1 was set to Unknown
Phenotypes for gene: HTRA1 were set to CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY
White matter disorders and cerebral calcification - narrow panel v0.11 HSPD1 Ellen McDonagh gene: HSPD1 was added
gene: HSPD1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: HSPD1 was set to Unknown
Phenotypes for gene: HSPD1 were set to Leukodystrophy, hypomyelinating, 4, 612233; Spastic paraplegia 13, autosomal dominant, 605280
White matter disorders and cerebral calcification - narrow panel v0.11 EGR2 Ellen McDonagh gene: EGR2 was added
gene: EGR2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: EGR2 was set to Unknown
Phenotypes for gene: EGR2 were set to Neuropathy, congenital hypomyelinating, 1, 605253; Charcot-Marie-Tooth disease,type 1D,607678; Dejerine-Sottas disease,145900
White matter disorders and cerebral calcification - narrow panel v0.11 DDB1 Ellen McDonagh gene: DDB1 was added
gene: DDB1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: DDB1 was set to Unknown
White matter disorders and cerebral calcification - narrow panel v0.11 SLC16A2 Ellen McDonagh gene: SLC16A2 was added
gene: SLC16A2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: SLC16A2 were set to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_524
Phenotypes for gene: SLC16A2 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease; Monocarboxylate transporter 8 deficiency (MCT8); Allan-Herndon-Dudley syndrome
White matter disorders and cerebral calcification - narrow panel v0.11 RNF113A Ellen McDonagh gene: RNF113A was added
gene: RNF113A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: RNF113A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: RNF113A were set to 25612912
Phenotypes for gene: RNF113A were set to ?Trichothiodystrophy 5, nonphotosensitive
White matter disorders and cerebral calcification - narrow panel v0.11 DCX Ellen McDonagh gene: DCX was added
gene: DCX was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: DCX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: DCX were set to Lissencephaly, X-Linked, 1; Subcortical laminal heteropia, X-linked, 300067; Cerebral Malformation Disorders; Lissencephaly, X-linked, 300067; Classic Lissencephaly/Subcortical Band Heterotopia
White matter disorders and cerebral calcification - narrow panel v0.11 ARX Ellen McDonagh gene: ARX was added
gene: ARX was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ARX were set to 300215; Cerebral Malformation Disorders; Lissencephaly, X-linked 2
White matter disorders and cerebral calcification - narrow panel v0.11 AP1S2 Ellen McDonagh gene: AP1S2 was added
gene: AP1S2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: AP1S2 were set to 17617514; 1842820
Phenotypes for gene: AP1S2 were set to Calcifications in basal ganglia
White matter disorders and cerebral calcification - narrow panel v0.11 PLP1 Ellen McDonagh gene: PLP1 was added
gene: PLP1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PLP1 were set to 25655951
Phenotypes for gene: PLP1 were set to Spastic paraplegia 2, X-linked 312920 Edit; Pelizaeus-Merzbacher disease 312080
White matter disorders and cerebral calcification - narrow panel v0.11 OCRL Ellen McDonagh gene: OCRL was added
gene: OCRL was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OCRL were set to Lowe syndrome, MIM#309000
White matter disorders and cerebral calcification - narrow panel v0.11 BCAP31 Ellen McDonagh gene: BCAP31 was added
gene: BCAP31 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BCAP31 were set to Deafness, dystonia and cerebellar hypomyelination, 300475
White matter disorders and cerebral calcification - narrow panel v0.11 ATP7A Ellen McDonagh gene: ATP7A was added
gene: ATP7A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP7A were set to 28495946; 28495940
Phenotypes for gene: ATP7A were set to Menkes disease, MIM#309400
White matter disorders and cerebral calcification - narrow panel v0.11 ABCD1 Ellen McDonagh gene: ABCD1 was added
gene: ABCD1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ABCD1 were set to 8040304; 11810273; 25655951
Phenotypes for gene: ABCD1 were set to Adrenomyeloneuropathy, adult, 300100; Adrenoleukodystrophy, X-linked; Adrenoleukodystrophy; Adrenoleukodystrophy, 300100; X-Linked Adrenoleukodystrophy
White matter disorders and cerebral calcification - narrow panel v0.11 ADGRG1 Ellen McDonagh gene: ADGRG1 was added
gene: ADGRG1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: ADGRG1 was set to Unknown
Phenotypes for gene: ADGRG1 were set to Cerebral Malformation Disorders
White matter disorders and cerebral calcification - narrow panel v0.11 XPR1 Ellen McDonagh gene: XPR1 was added
gene: XPR1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: XPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: XPR1 were set to 27230854 - report of a novel variant in a 41-year old man complaining of micrographia and dysarthria and demonstrating mild parkinsonism, cerebellar ataxia and executive dysfunction; 25938945
Phenotypes for gene: XPR1 were set to Basal ganglia calcification, idiopathic, 6, 616413; Basal ganglia calcification (Fahr syndrome)
White matter disorders and cerebral calcification - narrow panel v0.11 TMEM106B Ellen McDonagh gene: TMEM106B was added
gene: TMEM106B was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: TMEM106B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM106B were set to 29186371, 29444210
Phenotypes for gene: TMEM106B were set to Leukodystrophy, hypomyelinating 16, MIM#617964
White matter disorders and cerebral calcification - narrow panel v0.11 SCN2A Ellen McDonagh gene: SCN2A was added
gene: SCN2A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN2A were set to PMID:24579881
Phenotypes for gene: SCN2A were set to Epileptic encephalopathy, early infantile, 11; Seizures, benign familial infantile, 3
White matter disorders and cerebral calcification - narrow panel v0.11 RAB11B Ellen McDonagh gene: RAB11B was added
gene: RAB11B was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: RAB11B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB11B were set to 29106825
Phenotypes for gene: RAB11B were set to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, MIM#617807
White matter disorders and cerebral calcification - narrow panel v0.11 IFIH1 Ellen McDonagh Added phenotypes Aicardi-Gouti res, isolated spasticity, bilateral striatal necrosis; Aicardi-Goutieres syndrome 7, 615846 for gene: IFIH1
Publications for gene IFIH1 were changed from to 24995871; 24686847; 25604658
White matter disorders and cerebral calcification - narrow panel v0.11 IFIH1 Ellen McDonagh gene: IFIH1 was added
gene: IFIH1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IFIH1 were set to Aicardi-Goutieres Syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Aicardi-Goutieres syndrome 7
White matter disorders and cerebral calcification - narrow panel v0.11 COL4A1 Ellen McDonagh Publications for gene COL4A1 were changed from 22134833 to MIM#607595
White matter disorders and cerebral calcification - narrow panel v0.11 COL4A1 Ellen McDonagh gene: COL4A1 was added
gene: COL4A1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL4A1 were set to 22134833
Phenotypes for gene: COL4A1 were set to Variable phenotype - porencephaly, destructive cerebral lesions, eye anomalies, intracerebral calcification; Porencephaly 1
White matter disorders and cerebral calcification - narrow panel v0.11 TUBB4A Ellen McDonagh gene: TUBB4A was added
gene: TUBB4A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TUBB4A were set to 25655951
Phenotypes for gene: TUBB4A were set to Leukodystrophy, hypomyelinating, 6, 612438; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Leukodystrophy, hypomyelinating 6; Dystonia 4, torsion, autosomal dominant, 128101
White matter disorders and cerebral calcification - narrow panel v0.11 TUBA1A Ellen McDonagh gene: TUBA1A was added
gene: TUBA1A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: TUBA1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBA1A were set to Lissencephaly 3; Lissencephaly, Dominant; Cerebral Malformation Disorders; Lissencephaly 3, 611603
White matter disorders and cerebral calcification - narrow panel v0.11 SOX10 Ellen McDonagh gene: SOX10 was added
gene: SOX10 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOX10 were set to 25655951
Phenotypes for gene: SOX10 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy
White matter disorders and cerebral calcification - narrow panel v0.11 SLC20A2 Ellen McDonagh gene: SLC20A2 was added
gene: SLC20A2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: SLC20A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC20A2 were set to 27245298 - SLC20A2 exon deletions reported in 4 patients with primary brain calcification; 26129893; 27726124 - Copy number analysis of the WGS data revealed a heterozygous deletion of ~578 kb on chromosome 8. The deletion removes the 5' UTR region, the noncoding exon 1 and the putative promoter region of SLC20A2 as well as the coding regions of six other genes
Phenotypes for gene: SLC20A2 were set to Fahr syndrome; Basal ganglia calcification, idiopathic, 1, 213600; Familial Idiopathic Basal Ganglia Calcification
White matter disorders and cerebral calcification - narrow panel v0.11 PDGFRB Ellen McDonagh gene: PDGFRB was added
gene: PDGFRB was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PDGFRB were set to 23255827 - original family report and sproadic case report; 24796542 - an additional case report of a idiopathic basal ganglia calcification patient with the p.R695C mutation, which resulted in partial loss of autophosphorylation; 25292412 - functional studies; 26599395 - mouse models and functional studies; 26129893
Phenotypes for gene: PDGFRB were set to Fahr syndrome; Calcifications in basal ganglia; Basal ganglia calcification idiopathic 4, 615007
White matter disorders and cerebral calcification - narrow panel v0.11 PDGFB Ellen McDonagh gene: PDGFB was added
gene: PDGFB was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: PDGFB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PDGFB were set to 26129893; 25211641; 27227165 - c.3G>C variant identified in 5 affected members of a family
Phenotypes for gene: PDGFB were set to Fahr syndrome; Basal ganglia calcification, idiopathic, 5, 615483
White matter disorders and cerebral calcification - narrow panel v0.11 PAFAH1B1 Ellen McDonagh gene: PAFAH1B1 was added
gene: PAFAH1B1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: PAFAH1B1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAFAH1B1 were set to Lissencephaly 1; Cerebral Malformation Disorders; Lissencephaly/Subcortical Band Heterotopia
White matter disorders and cerebral calcification - narrow panel v0.11 MEF2C Ellen McDonagh gene: MEF2C was added
gene: MEF2C was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: MEF2C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MEF2C were set to Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations
White matter disorders and cerebral calcification - narrow panel v0.11 LMNB1 Ellen McDonagh gene: LMNB1 was added
gene: LMNB1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LMNB1 were set to 21225301; 25655951; 21909802
Phenotypes for gene: LMNB1 were set to Leukodystrophy,adult-onset, autosomal dominant,169500; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Adult onset autosomal dominant leukodystrophy (ADLD)
Mode of pathogenicity for gene: LMNB1 was set to Other - please provide details in the comments
White matter disorders and cerebral calcification - narrow panel v0.11 GFAP Ellen McDonagh gene: GFAP was added
gene: GFAP was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GFAP were set to 25655951
Phenotypes for gene: GFAP were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy
Mode of pathogenicity for gene: GFAP was set to Other - please provide details in the comments
White matter disorders and cerebral calcification - narrow panel v0.11 CSF1R Ellen McDonagh gene: CSF1R was added
gene: CSF1R was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: CSF1R was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CSF1R were set to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_605
Phenotypes for gene: CSF1R were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy
White matter disorders and cerebral calcification - narrow panel v0.11 CIC Ellen McDonagh gene: CIC was added
gene: CIC was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: CIC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CIC were set to 28288114; 24896178; 21076407
Phenotypes for gene: CIC were set to Mental retardation, autosomal dominant 45 617600
White matter disorders and cerebral calcification - narrow panel v0.11 TREX1 Ellen McDonagh gene: TREX1 was added
gene: TREX1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TREX1 were set to 25604658
Phenotypes for gene: TREX1 were set to Aicardi-Gouti res syndrome, isolated chilblains, lupus-like disease, retinal vasculopathy with cerebral leukodystrophy; Aicardi-Goutieres syndrome 1, dominant and recessive
White matter disorders and cerebral calcification - narrow panel v0.11 SPG7 Ellen McDonagh gene: SPG7 was added
gene: SPG7 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: SPG7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPG7 were set to 22571692, 17646629
Phenotypes for gene: SPG7 were set to Spastic paraplegia 7, autosomal recessive, MIM#607259
White matter disorders and cerebral calcification - narrow panel v0.11 MPZ Ellen McDonagh gene: MPZ was added
gene: MPZ was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: MPZ was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MPZ were set to Neuropathy,congenital hypomyelinating,605253; Congenital Hypomyelination
White matter disorders and cerebral calcification - narrow panel v0.11 HEPACAM Ellen McDonagh gene: HEPACAM was added
gene: HEPACAM was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: HEPACAM was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HEPACAM were set to 25655951
Phenotypes for gene: HEPACAM were set to Megalencephalic leukoencephalopathy with subcortical cysts (MLC); General Leukodystrophy & Mitochondrial Leukoencephalopathy; Megalencephalic leukoencephalopathy with subcortical cysts 2A; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
White matter disorders and cerebral calcification - narrow panel v0.11 GJA1 Ellen McDonagh gene: GJA1 was added
gene: GJA1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJA1 were set to Oculodentodigital dysplasia, autosomal recessive 257850; Oculodentodigital dysplasia (AD) 164200
White matter disorders and cerebral calcification - narrow panel v0.11 ADAR Ellen McDonagh Added phenotypes Aicardi-Goutieres Syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy for gene: ADAR
Publications for gene ADAR were changed from 23001123; 25604658 to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_584
White matter disorders and cerebral calcification - narrow panel v0.11 ADAR Ellen McDonagh gene: ADAR was added
gene: ADAR was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: ADAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ADAR were set to 23001123; 25604658
Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome; Aicardi-Gouti res, isolated spasticity, bilateral striatal necrosis; Aicardi-Goutieres syndrome 6
White matter disorders and cerebral calcification - narrow panel v0.11 ZFYVE26 Ellen McDonagh gene: ZFYVE26 was added
gene: ZFYVE26 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15, autosomal recessive, MIM#270700
White matter disorders and cerebral calcification - narrow panel v0.11 XPC Ellen McDonagh gene: XPC was added
gene: XPC was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XPC were set to 27413738
Phenotypes for gene: XPC were set to Xeroderma pigmentosum, group C, 278720
White matter disorders and cerebral calcification - narrow panel v0.11 XPA Ellen McDonagh gene: XPA was added
gene: XPA was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XPA were set to 27603812; 27413738; 26302748; 26743599
Phenotypes for gene: XPA were set to Xeroderma pigmentosum, group A, 278700
White matter disorders and cerebral calcification - narrow panel v0.11 VPS11 Ellen McDonagh gene: VPS11 was added
gene: VPS11 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS11 were set to 26307567, 27120463
Phenotypes for gene: VPS11 were set to Leukodystrophy, hypomyelinating, 12, MIM#616683
White matter disorders and cerebral calcification - narrow panel v0.11 USP18 Ellen McDonagh gene: USP18 was added
gene: USP18 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP18 were set to PMID: 27325888
Phenotypes for gene: USP18 were set to pseudo-TORCH syndrome
White matter disorders and cerebral calcification - narrow panel v0.11 UNC13D Ellen McDonagh gene: UNC13D was added
gene: UNC13D was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: UNC13D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC13D were set to 29312353
White matter disorders and cerebral calcification - narrow panel v0.11 TYROBP Ellen McDonagh gene: TYROBP was added
gene: TYROBP was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: TYROBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYROBP were set to Nasu-Hakola disease, MIM#221770
White matter disorders and cerebral calcification - narrow panel v0.11 TYMP Ellen McDonagh gene: TYMP was added
gene: TYMP was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TYMP were set to 25655951
Phenotypes for gene: TYMP were set to Mitochondrial Leukoencephalopathy; Mitochondrial DNA depletion syndrome 1 (MNGIE type)
White matter disorders and cerebral calcification - narrow panel v0.11 TWNK Ellen McDonagh gene: TWNK was added
gene: TWNK was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: TWNK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TWNK were set to 25655951
Phenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial Leukoencephalopathy
White matter disorders and cerebral calcification - narrow panel v0.11 TUFM Ellen McDonagh gene: TUFM was added
gene: TUFM was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber
Mode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUFM were set to 25735936 - summarises the findings of exome analysis in 109 patients. 16 out of 42 patients with a high suspicion of a mitochondrial disorder were reported as having a disease causing mutation found in the mitochondrial gene panel - of which TUFM was one of the genes with the biochemical diagnosis of combined OXPHOS enzyme deficiency.; 25655951; 17160893 (case report)
Phenotypes for gene: TUFM were set to Mitochondrial Leukoencephalopathy
White matter disorders and cerebral calcification - narrow panel v0.11 TREM2 Ellen McDonagh Added phenotypes POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY for gene: TREM2
White matter disorders and cerebral calcification - narrow panel v0.11 TREM2 Ellen McDonagh gene: TREM2 was added
gene: TREM2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: TREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TREM2 were set to 12080485; 15883308
Phenotypes for gene: TREM2 were set to Calcifications in basal ganglia; Nasu-Hakola disease; Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL)
White matter disorders and cerebral calcification - narrow panel v0.11 TACO1 Ellen McDonagh gene: TACO1 was added
gene: TACO1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TACO1 were set to 27319982 - mouse model with a missense variant causing loss of the translational activator of TACO1 have isolated complex IV deficiency; 25655951; 20727754 and 19503089 (same patients)
Phenotypes for gene: TACO1 were set to Mitochondrial Leukoencephalopathy
White matter disorders and cerebral calcification - narrow panel v0.11 SURF1 Ellen McDonagh gene: SURF1 was added
gene: SURF1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SURF1 were set to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_560
Phenotypes for gene: SURF1 were set to Leigh syndrome, due to COX IV deficiency; Mitochondrial Leukoencephalopathy; Mitochondrial complex IV disorder
White matter disorders and cerebral calcification - narrow panel v0.11 SUMF1 Ellen McDonagh gene: SUMF1 was added
gene: SUMF1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUMF1 were set to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_628
Phenotypes for gene: SUMF1 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Multiple sulfatase deficiency
White matter disorders and cerebral calcification - narrow panel v0.11 SUCLA2 Ellen McDonagh gene: SUCLA2 was added
gene: SUCLA2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUCLA2 were set to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_575
Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria); Mitochondrial Leukoencephalopathy; Mitochondrial DNA depletion syndrome 5
White matter disorders and cerebral calcification - narrow panel v0.11 SPG11 Ellen McDonagh gene: SPG11 was added
gene: SPG11 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG11 were set to 14745065
Phenotypes for gene: SPG11 were set to Spastic paralplegia 11, autosomal recessive, MIM#604360
White matter disorders and cerebral calcification - narrow panel v0.11 SPART Ellen McDonagh gene: SPART was added
gene: SPART was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: SPART was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPART were set to 27112432, 18413476, 26003402, 12134148
Phenotypes for gene: SPART were set to Troyer syndrome, MIM#275900
White matter disorders and cerebral calcification - narrow panel v0.11 SNORD118 Ellen McDonagh Added phenotypes 614561 for gene: SNORD118
White matter disorders and cerebral calcification - narrow panel v0.11 SNORD118 Ellen McDonagh gene: SNORD118 was added
gene: SNORD118 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNORD118 were set to 28177126; 27571260
Phenotypes for gene: SNORD118 were set to 614561
Mode of pathogenicity for gene: SNORD118 was set to Other - please provide details in the comments
White matter disorders and cerebral calcification - narrow panel v0.11 SLC25A4 Ellen McDonagh gene: SLC25A4 was added
gene: SLC25A4 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A4 were set to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_578; PMID: 27693233
Phenotypes for gene: SLC25A4 were set to Mitochondrial Leukoencephalopathy
White matter disorders and cerebral calcification - narrow panel v0.11 SLC25A1 Ellen McDonagh gene: SLC25A1 was added
gene: SLC25A1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A1 were set to Global Cerebral Hypomyelination
White matter disorders and cerebral calcification - narrow panel v0.11 SLC17A5 Ellen McDonagh gene: SLC17A5 was added
gene: SLC17A5 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC17A5 were set to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_634
Phenotypes for gene: SLC17A5 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy
White matter disorders and cerebral calcification - narrow panel v0.11 SLC13A5 Ellen McDonagh gene: SLC13A5 was added
gene: SLC13A5 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC13A5 were set to 27913086
Phenotypes for gene: SLC13A5 were set to Epileptic encephalopathy, early infantile 25, EIEE 25, MIM#615905
White matter disorders and cerebral calcification - narrow panel v0.11 SDHB Ellen McDonagh gene: SDHB was added
gene: SDHB was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: SDHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDHB were set to 26642834 - multiple cases reported; 25655951; 26925370 - suggests incomplete penetrance; 22972948
Phenotypes for gene: SDHB were set to Succinate dehydrogenase-deficient leukoencephalopathy; complex II deficiency; Mitochondrial Leukoencephalopathy
White matter disorders and cerebral calcification - narrow panel v0.11 SDHAF1 Ellen McDonagh gene: SDHAF1 was added
gene: SDHAF1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDHAF1 were set to 25655951; 22995659; 19465911
Phenotypes for gene: SDHAF1 were set to Mitochondrial complex II deficiency 252011
White matter disorders and cerebral calcification - narrow panel v0.11 SDHA Ellen McDonagh gene: SDHA was added
gene: SDHA was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDHA were set to 22972948
Phenotypes for gene: SDHA were set to Mitochondrial respiratory chain complex II deficiency, MIM#252011
White matter disorders and cerebral calcification - narrow panel v0.11 SAMHD1 Ellen McDonagh Added phenotypes Aicardi-Goutieres Syndrome; Aicardi-Goutieres syndrome for gene: SAMHD1
Publications for gene SAMHD1 were changed from 25655951 to 25604658
White matter disorders and cerebral calcification - narrow panel v0.11 SAMHD1 Ellen McDonagh gene: SAMHD1 was added
gene: SAMHD1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SAMHD1 were set to 25655951
Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres Syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy
White matter disorders and cerebral calcification - narrow panel v0.11 RNASEH2C Ellen McDonagh Added phenotypes Aicardi-Goutieres Syndrome; Aicardi-Goutieres syndrome 3 for gene: RNASEH2C
Publications for gene RNASEH2C were changed from 27411419; 25655951 to 25604658
White matter disorders and cerebral calcification - narrow panel v0.11 RNASEH2C Ellen McDonagh gene: RNASEH2C was added
gene: RNASEH2C was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASEH2C were set to 27411419; 25655951
Phenotypes for gene: RNASEH2C were set to Aicardi-Goutieres Syndrome 3; General Leukodystrophy & Mitochondrial Leukoencephalopathy
White matter disorders and cerebral calcification - narrow panel v0.11 RNASEH2B Ellen McDonagh Added phenotypes Aicardi-Goutieres Syndrome; Aicardi-Goutieres syndrome 2 for gene: RNASEH2B
Publications for gene RNASEH2B were changed from Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_586 to 25604658
White matter disorders and cerebral calcification - narrow panel v0.11 RNASEH2B Ellen McDonagh gene: RNASEH2B was added
gene: RNASEH2B was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASEH2B were set to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_586
Phenotypes for gene: RNASEH2B were set to Aicardi-Goutieres Syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Aicardi-Goutieres syndrome 2
White matter disorders and cerebral calcification - narrow panel v0.11 RNASEH2A Ellen McDonagh Added phenotypes Aicardi-Goutieres syndrome 4; Aicardi-Goutieres Syndrome for gene: RNASEH2A
Publications for gene RNASEH2A were changed from Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_585 to 25604658
White matter disorders and cerebral calcification - narrow panel v0.11 RNASEH2A Ellen McDonagh gene: RNASEH2A was added
gene: RNASEH2A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASEH2A were set to Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_585
Phenotypes for gene: RNASEH2A were set to Aicardi-Goutieres Syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy
White matter disorders and cerebral calcification - narrow panel v0.11 RELN Ellen McDonagh gene: RELN was added
gene: RELN was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: RELN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RELN were set to Lissencephaly, Recessive; Lissencephaly 2; Lissencephaly 2 (Norman-Roberts type), 257320
White matter disorders and cerebral calcification - narrow panel v0.11 RARS Ellen McDonagh gene: RARS was added
gene: RARS was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: RARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RARS were set to 24777941; 27564080
Phenotypes for gene: RARS were set to Leukodystrophy, hypomyelinating, 9 616140
White matter disorders and cerebral calcification - narrow panel v0.11 PYCR2 Ellen McDonagh gene: PYCR2 was added
gene: PYCR2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: PYCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYCR2 were set to Leukodystrophy, hypomyelinating, 10 616420
White matter disorders and cerebral calcification - narrow panel v0.11 PRF1 Ellen McDonagh gene: PRF1 was added
gene: PRF1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRF1 were set to 23443029
White matter disorders and cerebral calcification - narrow panel v0.11 PPT1 Ellen McDonagh gene: PPT1 was added
gene: PPT1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPT1 were set to Ceroid lipofuscinosis, neuronal, 1, MIM#256730
White matter disorders and cerebral calcification - narrow panel v0.11 POLR3B Ellen McDonagh gene: POLR3B was added
gene: POLR3B was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3B were set to 25655951
Phenotypes for gene: POLR3B were set to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381; Pol III-Related Leukodystrophy; General Leukodystrophy & Mitochondrial Leukoencephalopathy
White matter disorders and cerebral calcification - narrow panel v0.11 POLR1A Ellen McDonagh gene: POLR1A was added
gene: POLR1A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: POLR1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR1A were set to 28051070
White matter disorders and cerebral calcification - narrow panel v0.11 POLH Ellen McDonagh gene: POLH was added
gene: POLH was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: POLH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLH were set to 23755135; 23651273; 24260050; 27004399; 25256075; 27664908; 24877075; 24130121; 25128761
Phenotypes for gene: POLH were set to Xeroderma pigmentosum, variant type, 278750
White matter disorders and cerebral calcification - narrow panel v0.11 PHGDH Ellen McDonagh gene: PHGDH was added
gene: PHGDH was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHGDH were set to Phosphoglycerate dehydrogenase deficiency, MIM#601815
White matter disorders and cerebral calcification - narrow panel v0.11 PEX6 Ellen McDonagh gene: PEX6 was added
gene: PEX6 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX6 were set to 25655951
Phenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4B 614863; Peroxisome biogenesis disorder 4A (Zellweger) 614862
White matter disorders and cerebral calcification - narrow panel v0.11 PEX3 Ellen McDonagh gene: PEX3 was added
gene: PEX3 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX3 were set to 23245813; 10968777; 25655951
Phenotypes for gene: PEX3 were set to Peroxisome biogenesis disorder 10A (Zellweger) 614882
White matter disorders and cerebral calcification - narrow panel v0.11 PEX26 Ellen McDonagh gene: PEX26 was added
gene: PEX26 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX26 were set to 25655951
Phenotypes for gene: PEX26 were set to Peroxisome-Associated Disorders & Zellweger Syndrome
White matter disorders and cerebral calcification - narrow panel v0.11 PEX16 Ellen McDonagh gene: PEX16 was added
gene: PEX16 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX16 were set to Peroxisome-Associated Disorders & Zellweger Syndrome; Peroxisome biogenesis disorder 8A, (Zellweger); Peroxisome biogenesis disorder 8B; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9
White matter disorders and cerebral calcification - narrow panel v0.11 PEX14 Ellen McDonagh gene: PEX14 was added
gene: PEX14 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber
Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX14 were set to 15146459
Phenotypes for gene: PEX14 were set to Peroxisome-Associated Disorders & Zellweger Syndrome; PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
White matter disorders and cerebral calcification - narrow panel v0.11 PEX13 Ellen McDonagh gene: PEX13 was added
gene: PEX13 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX13 were set to 25655951
Phenotypes for gene: PEX13 were set to Peroxisome-Associated Disorders & Zellweger Syndrome; Peroxisome biogenesis disorder 11A (Zellweger); Peroxisome biogenesis disorder 11B
White matter disorders and cerebral calcification - narrow panel v0.11 PEX12 Ellen McDonagh gene: PEX12 was added
gene: PEX12 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX12 were set to 25655951
Phenotypes for gene: PEX12 were set to Peroxisome-Associated Disorders & Zellweger Syndrome; Peroxisome biogenesis disorder 3A (Zellweger); General Leukodystrophy & Mitochondrial Leukoencephalopathy; Peroxisome biogenesis disorder 3B; Peroxisome biogenesis disorder 3A,B
White matter disorders and cerebral calcification - narrow panel v0.11 PEX10 Ellen McDonagh gene: PEX10 was added
gene: PEX10 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX10 were set to 25655951
Phenotypes for gene: PEX10 were set to Peroxisome-Associated Disorders & Zellweger Syndrome; ZELLWEGER SYNDROME; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7
White matter disorders and cerebral calcification - narrow panel v0.11 PEX1 Ellen McDonagh gene: PEX1 was added
gene: PEX1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX1 were set to 25655951
Phenotypes for gene: PEX1 were set to Peroxisome-Associated Disorders & Zellweger Syndrome; Peroxisome biogenesis disorder 1A,B; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Peroxisome biogenesis disorder 1A (Zellweger)
White matter disorders and cerebral calcification - narrow panel v0.11 PCDH12 Ellen McDonagh gene: PCDH12 was added
gene: PCDH12 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCDH12 were set to 27164683
Phenotypes for gene: PCDH12 were set to microcephaly; intellectual disability; perithalamic hyperechogenicity; hypothalamic abnormalities; periventricular hyperechogenicity; epilepsy; midbrain abnormalities
White matter disorders and cerebral calcification - narrow panel v0.11 OCLN Ellen McDonagh gene: OCLN was added
gene: OCLN was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: OCLN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OCLN were set to 24668585; 26689621; 23793442; 20727516
Phenotypes for gene: OCLN were set to Severe developmental delay with microcephaly; Band-like calcification with simplified gyration and polymicrogyria; Band-like calcification with simplified gyration and polymicrogyria, 251290
White matter disorders and cerebral calcification - narrow panel v0.11 NUBPL Ellen McDonagh gene: NUBPL was added
gene: NUBPL was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUBPL were set to Mitochondrial complex I deficiency; Mitochondrial Leukoencephalopathy
White matter disorders and cerebral calcification - narrow panel v0.11 NDUFV1 Ellen McDonagh gene: NDUFV1 was added
gene: NDUFV1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFV1 were set to 26345448; 26758110; 27344648; 25655951
Phenotypes for gene: NDUFV1 were set to Mitochondrial Leukoencephalopathy
White matter disorders and cerebral calcification - narrow panel v0.11 NDUFS8 Ellen McDonagh gene: NDUFS8 was added
gene: NDUFS8 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFS8 were set to 25655951
Phenotypes for gene: NDUFS8 were set to Mitochondrial complex I disorders; Leigh syndrome due to mitochondrial complex I deficiency; Mitochondrial Leukoencephalopathy
White matter disorders and cerebral calcification - narrow panel v0.11 NDUFS7 Ellen McDonagh gene: NDUFS7 was added
gene: NDUFS7 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFS7 were set to 25655951
Phenotypes for gene: NDUFS7 were set to Genetic leukoencephalopathies: mitochondrial disorders; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Leigh syndrome; Mitochondrial Leukoencephalopathy; Mitochondrial respiratory chain complex I deficiency
White matter disorders and cerebral calcification - narrow panel v0.11 NDUFS4 Ellen McDonagh gene: NDUFS4 was added
gene: NDUFS4 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFS4 were set to 25655951
Phenotypes for gene: NDUFS4 were set to Mitochondrial complex I deficiency; Mitochondrial complex I disorders; Mitochondrial Leukoencephalopathy; MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
White matter disorders and cerebral calcification - narrow panel v0.11 NDUFS2 Ellen McDonagh gene: NDUFS2 was added
gene: NDUFS2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: NDUFS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFS2 were set to 20819849; 11220739; 25655951; 22036843; 23266820
Phenotypes for gene: NDUFS2 were set to Mitochondrial complex I disorders; Leigh syndrome associated with mitochondrial complex I deficiency; Mitochondrial Leukoencephalopathy; Leigh syndrome
White matter disorders and cerebral calcification - narrow panel v0.11 NDUFS1 Ellen McDonagh gene: NDUFS1 was added
gene: NDUFS1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFS1 were set to 25655951
Phenotypes for gene: NDUFS1 were set to Mitochondrial complex I deficiency; Mitochondrial complex I disorders; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial Leukoencephalopathy; MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
White matter disorders and cerebral calcification - narrow panel v0.11 NDUFAF1 Ellen McDonagh gene: NDUFAF1 was added
gene: NDUFAF1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: NDUFAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF1 were set to 21931170; 16218961; 17557076; 25655951; 24963768
Phenotypes for gene: NDUFAF1 were set to Mitochondrial Leukoencephalopathy
White matter disorders and cerebral calcification - narrow panel v0.11 NDUFA2 Ellen McDonagh gene: NDUFA2 was added
gene: NDUFA2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: NDUFA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA2 were set to 28857146
Phenotypes for gene: NDUFA2 were set to Mitochondrial leukoencephalopathy
White matter disorders and cerebral calcification - narrow panel v0.11 NDE1 Ellen McDonagh gene: NDE1 was added
gene: NDE1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: NDE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDE1 were set to Lissencephaly 4 (with microcephaly), 614019; Lissencephaly, Recessive; Cerebral Malformation Disorders
White matter disorders and cerebral calcification - narrow panel v0.11 NAXE Ellen McDonagh gene: NAXE was added
gene: NAXE was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAXE were set to 27616477, 27122014
Phenotypes for gene: NAXE were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, MIM#617186
White matter disorders and cerebral calcification - narrow panel v0.11 MTFMT Ellen McDonagh gene: MTFMT was added
gene: MTFMT was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTFMT were set to 21907147; 24461907; 27564080
Phenotypes for gene: MTFMT were set to Combined oxidative phosphorylation deficiency 15; 22499348; 614947; 23499752
White matter disorders and cerebral calcification - narrow panel v0.11 MRPS16 Ellen McDonagh gene: MRPS16 was added
gene: MRPS16 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber
Mode of inheritance for gene: MRPS16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS16 were set to 18539099; 15505824; 25655951
Phenotypes for gene: MRPS16 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Combined oxidative phosphorylation deficiency 2; Mitochondrial Leukoencephalopathy
White matter disorders and cerebral calcification - narrow panel v0.11 MRE11 Ellen McDonagh gene: MRE11 was added
gene: MRE11 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber
Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRE11 were set to 21227757
Phenotypes for gene: MRE11 were set to Nijmegen breakage syndrome-like severe microcephaly
White matter disorders and cerebral calcification - narrow panel v0.11 MPLKIP Ellen McDonagh Added phenotypes Trichothiodystrophy, nonphotosensitive for gene: MPLKIP
Publications for gene MPLKIP were changed from to 25655951
White matter disorders and cerebral calcification - narrow panel v0.11 MPLKIP Ellen McDonagh gene: MPLKIP was added
gene: MPLKIP was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPLKIP were set to Non-photosensitive trichothiodystrophy 4
White matter disorders and cerebral calcification - narrow panel v0.11 MLC1 Ellen McDonagh gene: MLC1 was added
gene: MLC1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MLC1 were set to 25655951
Phenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy with subcortical cysts (MLC); General Leukodystrophy & Mitochondrial Leukoencephalopathy
White matter disorders and cerebral calcification - narrow panel v0.11 MFF Ellen McDonagh gene: MFF was added
gene: MFF was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: MFF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFF were set to Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086
White matter disorders and cerebral calcification - narrow panel v0.11 LYRM7 Ellen McDonagh gene: LYRM7 was added
gene: LYRM7 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: LYRM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LYRM7 were set to 27151179; 27564080
Phenotypes for gene: LYRM7 were set to Mitochondrial complex III deficiency, nuclear type 8; leukoencephalopathy and complex III deficiency; 615838; severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle
White matter disorders and cerebral calcification - narrow panel v0.11 LAMB1 Ellen McDonagh gene: LAMB1 was added
gene: LAMB1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMB1 were set to 25925986; 17525174; 23472759
Phenotypes for gene: LAMB1 were set to Lissencephaly 5, 615191
White matter disorders and cerebral calcification - narrow panel v0.11 L2HGDH Ellen McDonagh gene: L2HGDH was added
gene: L2HGDH was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: L2HGDH were set to 25655951
Phenotypes for gene: L2HGDH were set to L2-Hydroxyglutaric aciduria
White matter disorders and cerebral calcification - narrow panel v0.11 JAM3 Ellen McDonagh Added phenotypes Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 for gene: JAM3
White matter disorders and cerebral calcification - narrow panel v0.11 JAM3 Ellen McDonagh gene: JAM3 was added
gene: JAM3 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: JAM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JAM3 were set to Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730
White matter disorders and cerebral calcification - narrow panel v0.11 ISCA2 Ellen McDonagh gene: ISCA2 was added
gene: ISCA2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red
Mode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCA2 were set to 25558065; 22323289; 25539947; 27564080
White matter disorders and cerebral calcification - narrow panel v0.11 IBA57 Ellen McDonagh gene: IBA57 was added
gene: IBA57 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IBA57 were set to 28913435; 23462291; 25971455; 27785568; 28671726
Phenotypes for gene: IBA57 were set to Multiple mitochondrial dysfunctions syndrome 3, 615330
White matter disorders and cerebral calcification - narrow panel v0.11 HSD17B4 Ellen McDonagh gene: HSD17B4 was added
gene: HSD17B4 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSD17B4 were set to 25655951
Phenotypes for gene: HSD17B4 were set to Peroxisome-Associated Disorders & Zellweger Syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy; D-bifunctional protein deficiency