| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Motor Neurone Disease v2.10 | HSPB1 | Bryony Thompson Marked gene: HSPB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.10 | HSPB1 | Bryony Thompson Gene: hspb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.10 | HSPB1 | Bryony Thompson Classified gene: HSPB1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.10 | HSPB1 | Bryony Thompson Gene: hspb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.9 | HSPB1 |
Bryony Thompson gene: HSPB1 was added gene: HSPB1 was added to Motor Neurone Disease. Sources: Literature Mode of inheritance for gene: HSPB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: HSPB1 were set to 26768280; 27492805; 32334137 Phenotypes for gene: HSPB1 were set to amyotrophic lateral sclerosis MONDO:0004976 Review for gene: HSPB1 was set to AMBER Added comment: HSPB1 variants are associated with distal hereditary motor neuropathy (dHMN). HSPB1 variants reported in 3 sporadic cases (PMID 27492805, 32334137). Two missense more common than expected for AD disease in gnomAD and 1 frameshift variant at the end of the protein with functional analyses. Homozygous HSPB1 variant is described in one consanguineous family (PMID 26768280) and segregates with ALS in 2 siblings. Heterozygous carriers are unaffected. Sources: Literature |
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