Paediatric motor neuronopathies
Gene: HSPB1
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
Mutations identified in at least ten patients with adult onset distal motor neuropathyCreated: 26 Jan 2017, 11:41 a.m.
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
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).
Publications for HSPB1 were set to 15122254
Mode of inheritance for HSPB1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
HSPB1 was added to Paediatric motor neuronopathiespanel. Sources: Expert