Activity

Filter

Cancel
Date Panel Item Activity
17 actions
Limb girdle muscular dystrophy v1.125 POMGNT2 Ellen McDonagh Marked gene: POMGNT2 as ready
Limb girdle muscular dystrophy v1.125 POMGNT2 Ellen McDonagh Gene: pomgnt2 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.125 POMGNT2 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.125 POMGNT2 Ellen McDonagh Mode of inheritance for gene: POMGNT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.124 POMGNT2 Ellen McDonagh Classified gene: POMGNT2 as Green List (high evidence)
Limb girdle muscular dystrophy v1.124 POMGNT2 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Limb girdle muscular dystrophy v1.124 POMGNT2 Ellen McDonagh Gene: pomgnt2 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.97 POMGNT2 Chiara Marini Bettolo commented on gene: POMGNT2: Known form to muscular dystrophy.according to new classification is LGMDR24
Limb girdle muscular dystrophy v1.85 POMGNT2 Louise Daugherty Source Yorkshire and North East GLH was added to POMGNT2.
Limb girdle muscular dystrophy v1.46 POMGNT2 Chiara Marini Bettolo reviewed gene: POMGNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27066570; Phenotypes: Limb-girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.46 POMGNT2 Louise Daugherty reviewed gene: POMGNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophy v1.30 POMGNT2 Louise Daugherty Phenotypes for gene: POMGNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830; limb girdle muscular dystrophy
Limb girdle muscular dystrophy v1.22 POMGNT2 Natalie Forrester reviewed gene: POMGNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27066570; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.21 POMGNT2 Louise Daugherty Phenotypes for gene: POMGNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830
Limb girdle muscular dystrophy v1.20 POMGNT2 Louise Daugherty Source NHS GMS was added to POMGNT2.
Limb girdle muscular dystrophy v1.19 POMGNT2 Louise Daugherty Source South West GLH was added to POMGNT2.
Limb girdle muscular dystrophy v1.15 POMGNT2 Elizabeth Harris reviewed gene: POMGNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27066570; Phenotypes: limb girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal