| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.56 | PABPN1_OPMD_GCN | Bryony Thompson Marked STR: PABPN1_OPMD_GCN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.56 | PABPN1_OPMD_GCN | Bryony Thompson Str: pabpn1_opmd_gcn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.56 | PABPN1_OPMD_GCN | Bryony Thompson Classified STR: PABPN1_OPMD_GCN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.56 | PABPN1_OPMD_GCN | Bryony Thompson Str: pabpn1_opmd_gcn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.55 | PABPN1_OPMD_GCN |
Bryony Thompson STR: PABPN1_OPMD_GCN was added STR: PABPN1_OPMD_GCN was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Expert list Mode of inheritance for STR: PABPN1_OPMD_GCN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for STR: PABPN1_OPMD_GCN were set to 9462747; 20301305 Phenotypes for STR: PABPN1_OPMD_GCN were set to Oculopharyngeal muscular dystrophy MIM#164300 Review for STR: PABPN1_OPMD_GCN was set to GREEN STR: PABPN1_OPMD_GCN was marked as clinically relevant STR: PABPN1_OPMD_GCN was marked as current diagnostic Added comment: NM_004643.3:c.4_6[X] Expected gain of function mechanism of disease Normal allele: (GCN)10 / Ala10 Autosomal recessive: (GCN)11/Ala11 Autosomal dominant: (GCN)12-17 Sources: Expert list |
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| 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 |
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