Ichthyosis and erythrokeratoderma
Gene: ABHD5EnsemblGeneIds (GRCh38): ENSG00000011198
EnsemblGeneIds (GRCh37): ENSG00000011198
OMIM: 604780, Gene2Phenotype
ABHD5 is in 12 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 5 Dec 2024, 10:34 p.m. | Last Modified: 5 Dec 2024, 10:34 p.m.
Panel Version: 3.30
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Arina Puzriakova (Genomics England Curator)
Comment on list classification: New gene added to this panel by Tom Cullup (GOSH). There is sufficient evidence to promote this gene to Green at the next GMS panel update.
Chanarin-Dorfman, caused by biallelic variants in the ABHD5 gene, is a neutral lipid storage disorder. The phenotype is variable with multiple organ involvement; however, the most prominent feature is non-bullous congenital ichthyosiform erythroderma. As ichthyosis is a cardinal feature of this condition, a Green rating on this panel is warranted.Created: 26 Mar 2024, 11:50 a.m. | Last Modified: 26 Mar 2024, 11:52 a.m.
Panel Version: 3.25
Tom Cullup (Great Ormond Street Hospital)
Green gene on multiple panels including PPK. Request from Dr G Petrof, GOSH, to add this gene to ichthyosis, as this is part of presenting phenotype in Chanarin-Dorfman syndrome.
Sources: Expert listCreated: 18 Dec 2023, 8:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Chanarin-Dorfman syndrome
Publications
- PubMed: 11590543
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Chanarin-Dorfman syndrome, OMIM:275630
- OMIM
- 604780
- Clinvar variants
- Variants in ABHD5
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Likely inborn error of metabolism
- Ichthyosis and erythrokeratoderma
- Palmoplantar keratodermas
- DDG2P
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Arthrogryposis
- Monogenic hearing loss
- Intellectual disability
- Fetal anomalies
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q1_24_promote_green was removed from gene: ABHD5. Tag Q1_24_NHS_review was removed from gene: ABHD5.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to ABHD5. Source NHS GMS was added to ABHD5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: abhd5 has been classified as Amber List (Moderate Evidence).
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q1_24_promote_green tag was added to gene: ABHD5. Tag Q1_24_NHS_review tag was added to gene: ABHD5.
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: ABHD5 were set to PubMed: 11590543
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ABHD5 were changed from Chanarin-Dorfman syndrome to Chanarin-Dorfman syndrome, OMIM:275630
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Tom Cullup (Great Ormond Street Hospital)gene: ABHD5 was added gene: ABHD5 was added to Ichthyosis and erythrokeratoderma. Sources: Expert list Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD5 were set to PubMed: 11590543 Phenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome Penetrance for gene: ABHD5 were set to Complete Review for gene: ABHD5 was set to GREEN