Genes in panel

Hereditary neuropathy

Gene: DCAF8

Red List (low evidence)

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

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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.

Natalie Forrester (SWGLH - Bristol Genetics)

Red List (low evidence)

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 gene
Created: 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

Alexander Rossor (UCL Institute of Neurology)

Red List (low evidence)

Single family
Created: 9 Dec 2015, 8:50 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Mary Reilly (Institute of Neurology)

Red List (low evidence)

Single family
Created: 8 Dec 2015, 3:06 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • ?Giant axonal neuropathy 2, autosomal dominant, 610100
OMIM
615820
Clinvar variants
Variants in DCAF8
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Giant axonal neuropathy 2, autosomal dominant, 610100 for gene: DCAF8 Publications for gene DCAF8 were changed from to 24500646

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DCAF8.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to DCAF8.

6 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

6 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

8 Dec 2015, Gel status: 0

Added New Source

Mary Reilly (Institute of Neurology)

DCAF8 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review

8 Dec 2015, Gel status: 0

Created

Mary Reilly (Institute of Neurology)

DCAF8 was created by MReilly-925