Ichthyosis and erythrokeratoderma
Gene: VIPAS39EnsemblGeneIds (GRCh38): ENSG00000151445
EnsemblGeneIds (GRCh37): ENSG00000151445
OMIM: 613401, Gene2Phenotype
VIPAS39 is in 17 panels
1 review
Arina Puzriakova (Genomics England Curator)
Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.Created: 27 Mar 2025, 1:56 p.m. | Last Modified: 27 Mar 2025, 1:56 p.m.
Panel Version: 3.32
VIPAS39 biallelic variants cause Arthrogryposis, renal dysfunction, and cholestasis 2 (OMIM:613404). At least 11 individuals have been reported in the literature. Ichthyosis is a feature of ARCS and has been reported in at least 7 individuals with VIPAS39 variants (PMID:39736737; 37202112; 32239418; 26019847) which supports inclusion of this gene on the panel.
Sources: LiteratureCreated: 27 Mar 2025, 1:55 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, renal dysfunction, and cholestasis 2 (OMIM:613404)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404
- Tags
- OMIM
- 613401
- Clinvar variants
- Variants in VIPAS39
- Penetrance
- None
- Publications
- Panels with this gene
-
- Nephrocalcinosis or nephrolithiasis
- Cholestasis
- CAKUT
- Childhood onset dystonia, chorea or related movement disorder
- Bleeding and platelet disorders
- Renal tubulopathies
- Undiagnosed metabolic disorders
- Intellectual disability
- Arthrogryposis
- Fetal anomalies
- Likely inborn error of metabolism
- Ichthyosis and erythrokeratoderma
- Unexplained kidney failure in young people
- Proteinuric renal disease
- Inherited bleeding disorders
- DDG2P
- Neonatal cholestasis
History Filter Activity
Removed Tag, Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q1_23_promote_green was removed from gene: VIPAS39. Tag Q3_25_promote_green tag was added to gene: VIPAS39.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: VIPAS39 were changed from Arthrogryposis, renal dysfunction, and cholestasis 2 (OMIM:613404) to Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: vipas39 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: VIPAS39 was added gene: VIPAS39 was added to Ichthyosis and erythrokeratoderma. Sources: Literature Q1_23_promote_green tags were added to gene: VIPAS39. Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VIPAS39 were set to 39736737; 37202112; 32239418; 26019847 Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2 (OMIM:613404) Review for gene: VIPAS39 was set to GREEN