Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: HSPB8
At least 4 reported unrelated families with distal myopathy and a supporting mouse model. Toxic gain of function is the mechanism of disease.
Sources: LiteratureCreated: 7 Jun 2023, 5:09 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO:0018773
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Families reported with both myopathy and neuropathy.Created: 17 Jun 2020, 8:07 a.m. | Last Modified: 17 Jun 2020, 8:07 a.m.
Panel Version: 0.3094
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
Publications
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
Gene: hspb8 has been classified as Green List (High Evidence).
Gene: hspb8 has been classified as Green List (High Evidence).
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