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Limb girdle muscular dystrophy v2.3 SMN1 Ian Berry reviewed gene: SMN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.113 SMN1 Ellen McDonagh Marked gene: SMN1 as ready
Limb girdle muscular dystrophy v1.113 SMN1 Ellen McDonagh Gene: smn1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.113 SMN1 Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Limb girdle muscular dystrophy v1.113 SMN1 Ellen McDonagh Mode of inheritance for gene: SMN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophy v1.112 SMN1 Ellen McDonagh Classified gene: SMN1 as Green List (high evidence)
Limb girdle muscular dystrophy v1.112 SMN1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green based on the review and comments from Chiara Marini Bettolo (NUTH).
Limb girdle muscular dystrophy v1.112 SMN1 Ellen McDonagh Gene: smn1 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophy v1.97 SMN1 Chiara Marini Bettolo reviewed gene: SMN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb girdle muscular dystrophy v1.96 SMN1 Louise Daugherty Source NHS GMS was added to SMN1.
Source Yorkshire and North East GLH was added to SMN1.
Limb girdle muscular dystrophy v1.95 SMN1 Louise Daugherty gene: SMN1 was added
gene: SMN1 was added to Limb girdle muscular dystrophy. Sources: Expert Review
Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMN1 were set to Spinal muscular atrophy-4, 271150
Review for gene: SMN1 was set to AMBER
Added comment: New gene requested to be added to panel by Chiara Marini Bettolo (NUTH) on behalf of Yorkshire North East
Sources: Expert Review