Hereditary Neuropathy - complex
Gene: DCAF8EnsemblGeneIds (GRCh38): ENSG00000132716
EnsemblGeneIds (GRCh37): ENSG00000132716
OMIM: 615820, Gene2Phenotype
DCAF8 is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
A single large family segregating a missense variant and in vitro functional assays demonstrating the variant reduces the association of DCAF8 and DDB1, which is important in Cul4-ubiquitin E3 functionCreated: 16 Jun 2020, 6:49 a.m. | Last Modified: 16 Jun 2020, 6:49 a.m.
Panel Version: 0.63
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Giant axonal neuropathy 2, autosomal dominant MIM#610100
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Royal Melbourne Hospital
- Phenotypes
-
- ?Giant axonal neuropathy 2, autosomal dominant, 610100
- HMSN
- OMIM
- 615820
- Clinvar variants
- Variants in DCAF8
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: dcaf8 has been classified as Amber List (Moderate Evidence).
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: DCAF8 were set to
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: dcaf8 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: DCAF8 was added gene: DCAF8 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: DCAF8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DCAF8 were set to ?Giant axonal neuropathy 2, autosomal dominant, 610100; HMSN