Activity
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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42 | HSPB8 | Zornitza Stark Phenotypes for gene: HSPB8 were changed from autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO:0018773 to Myopathy, myofibrillar, 13, with rimmed vacuoles, MIM# 621078; autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO:0018773 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.41 | HSPB8 | Zornitza Stark edited their review of gene: HSPB8: Changed phenotypes: Myopathy, myofibrillar, 13, with rimmed vacuoles, MIM# 621078, Distal myopathy, Vacuolar myopathy, Neuropathy, distal hereditary motor type IIA, 158590, Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.8 | HSPB8 | Bryony Thompson Marked gene: HSPB8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.8 | HSPB8 | Bryony Thompson Gene: hspb8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.8 | HSPB8 | Bryony Thompson Classified gene: HSPB8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.8 | HSPB8 | Bryony Thompson Gene: hspb8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.7 | HSPB8 |
Bryony Thompson gene: HSPB8 was added gene: HSPB8 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: HSPB8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HSPB8 were set to 32165108; 26718575; 31403083; 28780615 Phenotypes for gene: HSPB8 were set to autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO:0018773 Mode of pathogenicity for gene: HSPB8 was set to Other Review for gene: HSPB8 was set to GREEN gene: HSPB8 was marked as current diagnostic Added comment: At least 4 reported unrelated families with distal myopathy and a supporting mouse model. Toxic gain of function is the mechanism of disease. Sources: Literature |
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