Paediatric motor neuronopathies
Gene: HSPB1EnsemblGeneIds (GRCh38): ENSG00000106211
EnsemblGeneIds (GRCh37): ENSG00000106211
OMIM: 602195, Gene2Phenotype
HSPB1 is in 4 panels
2 reviews
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as amber as the phenotype is more consistent with distal HMNCreated: 7 Mar 2017, 12:36 p.m.
mutations have been described in patients with distal HMN, with onset outside infancyCreated: 31 Jan 2017, 2:35 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neuropathy, distal hereditary motor, type IIB, 608634; Charcot-Marie-Tooth disease, axonal, type 2F, 606595
Publications
Alice Gardham (Genomics England)
Mutations identified in at least ten patients with adult onset distal motor neuropathyCreated: 26 Jan 2017, 11:41 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Expert
- Phenotypes
-
- Neuropathy, distal hereditary motor, type IIB, OMIM:608634
- Charcot-Marie-Tooth disease, axonal, type 2F, OMIM:606595
- OMIM
- 602195
- Clinvar variants
- Variants in HSPB1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: HSPB1 were changed from to Neuropathy, distal hereditary motor, type IIB, OMIM:608634; Charcot-Marie-Tooth disease, axonal, type 2F, OMIM:606595
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Gene panel promoted to v1 on 7 March 2017 following external review and internal curation
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Alice Gardham (Genomics England)Publications for HSPB1 were set to 15122254
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for HSPB1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)HSPB1 was added to Paediatric motor neuronopathiespanel. Sources: Expert