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  3. DCAF8
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Hereditary neuropathy or pain disorder

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.
Created: 29 Apr 2019, 12:53 p.m.

Panel version: Imported from Hereditary neuropathy panel version 1.63

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

Created: 29 Apr 2019, 12:30 p.m.

Panel version: Imported from Hereditary neuropathy panel version 1.58

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

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

Panel version: Imported from Hereditary neuropathy panel version 0

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

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

Panel version: Imported from Hereditary neuropathy panel version 0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • Expert Review Red
  • Expert Review
  • NHS GMS
  • NHS GMS
  • South West GLH
Phenotypes
  • ?Giant axonal neuropathy 2, autosomal dominant, 610100
OMIM
615820
Clinvar variants
Variants in DCAF8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: DCAF8 was added gene: DCAF8 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert Review,Expert Review Red,South West GLH Mode of inheritance for gene: DCAF8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DCAF8 were set to 24500646 Phenotypes for gene: DCAF8 were set to ?Giant axonal neuropathy 2, autosomal dominant, 610100