Hereditary neuropathy
Gene: DCAF8
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Not currently enough evidence according to PanelApp guidelines. PMID: 24500646 - missense variant segregating with disease in 5 relatives across 2 generations. Has 1 allele on gnomAD and is dominant geneCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
?Giant axonal neuropathy 2, autosomal dominant, 610100
Publications
Single familyCreated: 9 Dec 2015, 8:50 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Single familyCreated: 8 Dec 2015, 3:06 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes ?Giant axonal neuropathy 2, autosomal dominant, 610100 for gene: DCAF8 Publications for gene DCAF8 were changed from to 24500646
Source NHS GMS was added to DCAF8.
Source South West GLH was added to DCAF8.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
DCAF8 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review
DCAF8 was created by MReilly-925