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  2. Paediatric motor neuronopathies
  3. HSPB3
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Paediatric motor neuronopathies

Gene: HSPB3

Red List (low evidence)
HSPB3 (heat shock protein family B (small) member 3)
EnsemblGeneIds (GRCh38): ENSG00000169271
EnsemblGeneIds (GRCh37): ENSG00000169271
OMIM: 604624, Gene2Phenotype
HSPB3 is in 3 panels

1 review

Alice Gardham (Genomics England)

Adult onset distal neuropathy only reported in one family
Created: 26 Jan 2017, 11:45 a.m.
Created: 2 Nov 2016, 2:43 p.m.

Panel version: 0.20

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • ?Neuronopathy, distal hereditary motor, type IIC 613376
OMIM
604624
Clinvar variants
Variants in HSPB3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

7 Mar 2017, Gel status: 1

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

26 Jan 2017, Gel status: 1

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for HSPB3 were set to ?Neuronopathy, distal hereditary motor, type IIC 613376

26 Jan 2017, Gel status: 1

Set publications

Alice Gardham (Genomics England)

Publications for HSPB3 were set to 20142617

26 Jan 2017, Gel status: 1

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for HSPB3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

3 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

2 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

8 May 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

HSPB3 was added to Paediatric motor neuronopathiespanel. Sources: Expert