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Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.18 POMK Sarah Leigh Phenotypes for gene: POMK were changed from ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249; limb girdle muscular dystrophy; congenital muscular dystrophy to ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12 OMIM:616094; limb-girdle muscular dystrophy due to POMK deficiencyMONDO:0014489; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM:615249; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 MONDO:0014101
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.17 POMK Sarah Leigh Publications for gene: POMK were set to 24925318; 24556084; 29910097
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.184 POMK Ellen McDonagh Classified gene: POMK as Red List (low evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.184 POMK Ellen McDonagh Added comment: Comment on list classification: This gene will remain Red based on the overall reviews and comments from reviewers.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.184 POMK Ellen McDonagh Gene: pomk has been classified as Red List (Low Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 POMK Chiara Marini Bettolo edited their review of gene: POMK: Added comment: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), autosomal recessive disorder with congenital muscular dystrophy; Changed rating: RED
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.85 POMK Louise Daugherty Source Yorkshire and North East GLH was added to POMK.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.68 POMK Louise Daugherty Phenotypes for gene: POMK were changed from ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249; mb girdle musuclar dystorphy; congenital muscular dystrophy to ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249; limb girdle muscular dystrophy; congenital muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 POMK Chiara Marini Bettolo reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: None; Publications: 24925318; Phenotypes: Limb-girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 POMK Louise Daugherty reviewed gene: POMK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.29 POMK Louise Daugherty Phenotypes for gene: POMK were changed from ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 to ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249; mb girdle musuclar dystorphy; congenital muscular dystrophy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.28 POMK Louise Daugherty Publications for gene: POMK were set to 24925318; 24556084
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.22 POMK Natalie Forrester reviewed gene: POMK: Rating: AMBER; Mode of pathogenicity: ; Publications: 24925318, 29910097; Phenotypes: ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.20 POMK Louise Daugherty Source NHS GMS was added to POMK.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.19 POMK Louise Daugherty Source South West GLH was added to POMK.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 POMK Elizabeth Harris reviewed gene: POMK: Rating: ; Mode of pathogenicity: None; Publications: PMID: 24925318; Phenotypes: limb girdle musuclar dystorphy, congenital muscular dystrophy; Mode of inheritance: None