Paediatric motor neuronopathies
Gene: HSPB8

HSPB8 (heat shock protein family B (small) member 8)
EnsemblGeneIds (GRCh38): ENSG00000152137
EnsemblGeneIds (GRCh37): ENSG00000152137
OMIM: 608014, Gene2Phenotype
HSPB8 is in 4 panels

2 reviews

Arianna Tucci (Genomics England Curator)

Red List (low evidence)

Comment when marking as ready: Marked as amber as onset typically outside infancy
Created: 7 Mar 2017, 12:37 p.m.

Onset normally outside infancy
Created: 31 Jan 2017, 2:45 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neuropathy, distal hereditary motor, type IIA, 158590

Publications

26718575
15122253,

Created: 31 Jan 2017, 2:45 p.m.

Panel version: 0.89

Alice Gardham (Genomics England)

Adult onset distal neuropathy reported in at least four families
Created: 26 Jan 2017, 11:38 a.m.

Created: 2 Nov 2016, 2:44 p.m.

Panel version: 0.21

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Expert

Phenotypes

Neuropathy, distal hereditary motor, type IIA, OMIM:158590

OMIM

608014

Clinvar variants

Variants in HSPB8

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

18 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: HSPB8 were changed from Neuropathy, distal hereditary motor, type IIA 158590 to Neuropathy, distal hereditary motor, type IIA, OMIM:158590

18 Mar 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: HSPB8 were set to 15122253

7 Mar 2017, Gel status: 2

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

7 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

26 Jan 2017, Gel status: 2