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Congenital muscular dystrophy v5.3 GOSR2 Achchuthan Shanmugasundram Tag currently-not-available-via-GLH-non-WGS-testing was removed from gene: GOSR2.
Congenital muscular dystrophy v4.29 GOSR2 Achchuthan Shanmugasundram Tag currently-not-available-via-GLH-non-WGS-testing tag was added to gene: GOSR2.
Congenital muscular dystrophy v4.29 GOSR2 Sarah Leigh Tag Q4_22_promote_green was removed from gene: GOSR2.
Tag Q1_23_NHS_review was removed from gene: GOSR2.
Congenital muscular dystrophy v4.28 GOSR2 Sarah Leigh reviewed gene: GOSR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v4.27 GOSR2 Sarah Leigh Source Expert Review Green was added to GOSR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital muscular dystrophy v4.7 GOSR2 Achchuthan Shanmugasundram Tag Q1_23_NHS_review tag was added to gene: GOSR2.
Congenital muscular dystrophy v4.1 GOSR2 Achchuthan Shanmugasundram edited their review of gene: GOSR2: Changed phenotypes to: Muscular dystrophy, congenital, with or without seizures, OMIM:620166
Congenital muscular dystrophy v4.1 GOSR2 Anna Sarkozy reviewed gene: GOSR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 33639315, 33639315; Phenotypes: congenital muscular dystrophy with secondary alpha-dystroglycanopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v3.55 GOSR2 Arina Puzriakova Phenotypes for gene: GOSR2 were changed from Congenital muscular dystrophy with hypoglycosylation of alpha-dystroglycan to Muscular dystrophy, congenital, with or without seizures, OMIM:620166
Congenital muscular dystrophy v3.7 GOSR2 Achchuthan Shanmugasundram Tag Q4_22_promote_green tag was added to gene: GOSR2.
Congenital muscular dystrophy v3.7 GOSR2 Achchuthan Shanmugasundram Publications for gene: GOSR2 were set to 29855340
Congenital muscular dystrophy v3.6 GOSR2 Achchuthan Shanmugasundram Classified gene: GOSR2 as Amber List (moderate evidence)
Congenital muscular dystrophy v3.6 GOSR2 Achchuthan Shanmugasundram Gene: gosr2 has been classified as Amber List (Moderate Evidence).
Congenital muscular dystrophy v3.5 GOSR2 Achchuthan Shanmugasundram reviewed gene: GOSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29855340, 33639315, 34167170; Phenotypes: Congenital muscular dystrophy, MONDO:0019950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v2.16 GOSR2 Zornitza Stark reviewed gene: GOSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34167170, 33639315, 33639315, 29855340, DOI:https://doi.org/10.1016/j.nmd.2013.06.404; Phenotypes: Epilepsy, progressive myoclonic 6 MIM#614018, congenital muscluar dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v1.51 GOSR2 Ivone Leong reviewed gene: GOSR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital muscular dystrophy v1.43 GOSR2 Louise Daugherty reviewed gene: GOSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital muscular dystrophy v1.32 GOSR2 Louise Daugherty Publications for gene: GOSR2 were set to
Congenital muscular dystrophy v1.31 GOSR2 Louise Daugherty Phenotypes for gene: GOSR2 were changed from to Congenital muscular dystrophy with hypoglycosylation of alpha-dystroglycan
Congenital muscular dystrophy v1.30 GOSR2 Louise Daugherty Mode of inheritance for gene: GOSR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v1.24 GOSR2 Rachael Mein reviewed gene: GOSR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29855340; Phenotypes: Congenital muscular dystrophy with hypoglycosylation of alpha-dystroglycan; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy v1.23 GOSR2 Louise Daugherty Source NHS GMS was added to GOSR2.
Congenital muscular dystrophy v1.22 GOSR2 Louise Daugherty gene: GOSR2 was added
gene: GOSR2 was added to Congenital muscular dystrophy. Sources: London South GLH
Mode of inheritance for gene: GOSR2 was set to