Distal myopathies
Gene: HSPB1
HSPB1 (heat shock protein family B (small) member 1)
EnsemblGeneIds (GRCh38): ENSG00000106211
EnsemblGeneIds (GRCh37): ENSG00000106211
OMIM: 602195, Gene2Phenotype
HSPB1 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000106211
EnsemblGeneIds (GRCh37): ENSG00000106211
OMIM: 602195, Gene2Phenotype
HSPB1 is in 4 panels
1 review
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Mutations in this gene can cause an overlapping phenotype (also confirmed by the expert)Created: 20 Feb 2017, 4:27 p.m.
The phenotype of HSPB1 mutations can overlap with distal myopatyCreated: 9 Feb 2017, 2:42 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neuropathy, distal hereditary motor type IIB, 608634
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Neuropathy, distal hereditary motor type IIB, 608634
- OMIM
- 602195
- Clinvar variants
- Variants in HSPB1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
22 Feb 2017, Gel status: 4
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 22nd of February 2017, after revising with the curation team and the expert from UCL Dr Bugiardini.
20 Feb 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
20 Feb 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
9 Feb 2017, Gel status: 0
Created
Arianna Tucci (Genomics England Curator)HSPB1 was created by arianna
9 Feb 2017, Gel status: 0
Added New Source
Arianna Tucci (Genomics England Curator)HSPB1 was added to Distal myopathiespanel. Sources: Expert list