Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.126 | PABPN1 | Bryony Thompson Marked gene: PABPN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.126 | PABPN1 | Bryony Thompson Gene: pabpn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.126 | PABPN1 | Bryony Thompson Classified gene: PABPN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.126 | PABPN1 | Bryony Thompson Gene: pabpn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.98 | PABPN1 |
Bryony Thompson gene: PABPN1 was added gene: PABPN1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Other Mode of inheritance for gene: PABPN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PABPN1 were set to 19080757; 33805441; 16648376 Phenotypes for gene: PABPN1 were set to oculopharyngeal muscular dystrophy MONDO:0008116 Added comment: Included for overlapping phenotype Sources: Other |