Hereditary Neuropathy - complex

Gene: DCAF8

Amber List (moderate evidence)

DCAF8 (DDB1 and CUL4 associated factor 8)
EnsemblGeneIds (GRCh38): ENSG00000132716
EnsemblGeneIds (GRCh37): ENSG00000132716
OMIM: 615820, Gene2Phenotype
DCAF8 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

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 function
Created: 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

14 Aug 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dcaf8 has been classified as Amber List (Moderate Evidence).

14 Aug 2023, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: DCAF8 were set to

16 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dcaf8 has been classified as Amber List (Moderate Evidence).

13 Jan 2020, Gel status: 3

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