Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Mendeliome v1.2301 HSPB8 Zornitza Stark Phenotypes for gene: HSPB8 were changed from Distal myopathy; Vacuolar myopathy; Neuropathy, distal hereditary motor type IIA, 158590; Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673 to Myopathy, myofibrillar, 13, with rimmed vacuoles, MIM# 621078; Distal myopathy; Vacuolar myopathy; Neuropathy, distal hereditary motor type IIA, 158590; Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673
Mendeliome v1.2300 HSPB8 Zornitza Stark edited their review of gene: HSPB8: Changed phenotypes: Myopathy, myofibrillar, 13, with rimmed vacuoles, MIM# 621078, Distal myopathy, Vacuolar myopathy, Neuropathy, distal hereditary motor type IIA, 158590, Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673
Mendeliome v0.3097 HSPB8 Zornitza Stark Marked gene: HSPB8 as ready
Mendeliome v0.3097 HSPB8 Zornitza Stark Gene: hspb8 has been classified as Green List (High Evidence).
Mendeliome v0.3097 HSPB8 Zornitza Stark Phenotypes for gene: HSPB8 were changed from to Distal myopathy; Vacuolar myopathy; Neuropathy, distal hereditary motor type IIA, 158590; Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673
Mendeliome v0.3096 HSPB8 Zornitza Stark Publications for gene: HSPB8 were set to
Mendeliome v0.3095 HSPB8 Zornitza Stark Mode of inheritance for gene: HSPB8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3094 HSPB8 Zornitza Stark reviewed gene: HSPB8: Rating: GREEN; Mode of pathogenicity: None; Publications: 32165108, 31403083, 28780615, 15122253, 26718575; Phenotypes: Distal myopathy, Vacuolar myopathy, Neuropathy, distal hereditary motor type IIA, 158590, Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673; Mode of inheritance: None
Mendeliome v0.0 HSPB8 Zornitza Stark gene: HSPB8 was added
gene: HSPB8 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HSPB8 was set to Unknown