Activity
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| Hereditary Neuropathy_CMT - isolated v1.39 | BSCL2 | Sangavi Sivagnanasundram edited their review of gene: BSCL2: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.39 | BSCL2 | Sangavi Sivagnanasundram reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25832430, 23470542, https://search.clinicalgenome.org/CCID:004292; Phenotypes: distal hereditary motor neuropathy MONDO:0018894; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.79 | BSCL2 | Zornitza Stark Marked gene: BSCL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.79 | BSCL2 | Zornitza Stark Gene: bscl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.79 | BSCL2 | Zornitza Stark Phenotypes for gene: BSCL2 were changed from Neuropathy, distal hereditary motor, type VA 600794; Lipodystrophy, congenital generalized, type 2 269700; Neuropathy, distal hereditary motor, type VC, MIM# 619112; HMSN, dHMN/dSMA; Silver spastic paraplegia syndrome 270685 to Neuropathy, distal hereditary motor, type VC, MIM# 619112 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.78 | BSCL2 | Zornitza Stark Publications for gene: BSCL2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.77 | BSCL2 | Zornitza Stark reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14981520, 15732094; Phenotypes: Neuropathy, distal hereditary motor, type VC, MIM# 619112; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.63 | BSCL2 | Zornitza Stark Phenotypes for gene: BSCL2 were changed from Neuropathy, distal hereditary motor, type VA 600794; Lipodystrophy, congenital generalized, type 2 269700; Encephalopathy, progressive, with or without lipodystrophy, 615924; Neuropathy, distal hereditary motor, type VC, MIM# 619112; HMSN, dHMN/dSMA; Silver spastic paraplegia syndrome 270685 to Neuropathy, distal hereditary motor, type VA 600794; Lipodystrophy, congenital generalized, type 2 269700; Neuropathy, distal hereditary motor, type VC, MIM# 619112; HMSN, dHMN/dSMA; Silver spastic paraplegia syndrome 270685 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.62 | BSCL2 | Zornitza Stark Phenotypes for gene: BSCL2 were changed from Neuropathy, distal hereditary motor, type VA 600794; Lipodystrophy, congenital generalized, type 2 269700; Encephalopathy, progressive, with or without lipodystrophy, 615924; HMSN, dHMN/dSMA; Silver spastic paraplegia syndrome 270685 to Neuropathy, distal hereditary motor, type VA 600794; Lipodystrophy, congenital generalized, type 2 269700; Encephalopathy, progressive, with or without lipodystrophy, 615924; Neuropathy, distal hereditary motor, type VC, MIM# 619112; HMSN, dHMN/dSMA; Silver spastic paraplegia syndrome 270685 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.0 | BSCL2 |
Bryony Thompson gene: BSCL2 was added gene: BSCL2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: BSCL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BSCL2 were set to Neuropathy, distal hereditary motor, type VA 600794; Lipodystrophy, congenital generalized, type 2 269700; Encephalopathy, progressive, with or without lipodystrophy, 615924; HMSN, dHMN/dSMA; Silver spastic paraplegia syndrome 270685 |
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