Paediatric motor neuronopathies
Gene: HSPB8
Comment when marking as ready: Marked as amber as onset typically outside infancyCreated: 7 Mar 2017, 12:37 p.m.
Onset normally outside infancyCreated: 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
Adult onset distal neuropathy reported in at least four familiesCreated: 26 Jan 2017, 11:38 a.m.
Phenotypes for gene: HSPB8 were changed from Neuropathy, distal hereditary motor, type IIA 158590 to Neuropathy, distal hereditary motor, type IIA, OMIM:158590
Publications for gene: HSPB8 were set to 15122253
Gene panel promoted to v1 on 7 March 2017 following external review and internal curation
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for HSPB8 were set to 15122253
Mode of inheritance for HSPB8 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for HSPB8 were set to Neuropathy, distal hereditary motor, type IIA 158590
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
HSPB8 was added to Paediatric motor neuronopathiespanel. Sources: Expert