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  2. Palmoplantar Keratoderma and Erythrokeratoderma
  3. ABHD5
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Palmoplantar Keratoderma and Erythrokeratoderma

Gene: ABHD5

Red List (low evidence)
ABHD5 (abhydrolase domain containing 5)
EnsemblGeneIds (GRCh38): ENSG00000011198
EnsemblGeneIds (GRCh37): ENSG00000011198
OMIM: 604780, Gene2Phenotype
ABHD5 is in 9 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Red List (low evidence)

Association with Chanarin-Dorfman syndrome (CDS) is well established.

The skin phenotype associated with CDS is ichthyosiform erythroderma, but one case of erythrokeratoderma variabilis-like CDS, presenting patches of normal skin alternating with erythematous scaly patches, has been reported in the literature (PMID: 16181472). I have added this as a Red gene to this panel due to this report.
Sources: Literature
Created: 17 Aug 2020, 6:26 a.m. | Last Modified: 17 Aug 2020, 6:26 a.m.
Panel Version: 0.56

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Chanarin-Dorfman syndrome (MIM#275630)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Aug 2020, 6:26 a.m.
Last Modified: 17 Aug 2020, 6:26 a.m.
Panel version: 0.56

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Chanarin-Dorfman syndrome (MIM#275630)
OMIM
604780
Clinvar variants
Variants in ABHD5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: abhd5 has been classified as Red List (Low Evidence).

18 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: abhd5 has been classified as Red List (Low Evidence).

17 Aug 2020, Gel status: 0

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

Paul De Fazio (Victorian Clinical Genetics Services)

gene: ABHD5 was added gene: ABHD5 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD5 were set to 16181472 Phenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome (MIM#275630) Review for gene: ABHD5 was set to RED gene: ABHD5 was marked as current diagnostic