Neonatal cholestasis
Gene: VIPAS39EnsemblGeneIds (GRCh38): ENSG00000151445
EnsemblGeneIds (GRCh37): ENSG00000151445
OMIM: 613401, Gene2Phenotype
VIPAS39 is in 17 panels
2 reviews
Jane Hartley (Birmingham Women and Children's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ARC syndrome; arthrogryposis-renal-cholestasis syndrome
Thalia Antoniadi (West Midlands Regional Genetics Laboratory)
majority of pathogenic variants are nonsense but also some missenses; no patients with a genetic diagnosis in VIPAS39 in our cohort of ~150 patients tested.Created: 4 Jun 2018, 11:23 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Phenotypes
-
- Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404
- ARC syndrome
- OMIM
- 613401
- Clinvar variants
- Variants in VIPAS39
- Penetrance
- None
- Panels with this gene
-
- Arthrogryposis
- Inherited bleeding disorders
- Neonatal cholestasis
- Fetal anomalies
- Proteinuric renal disease
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- CAKUT
- Nephrocalcinosis or nephrolithiasis
- Cholestasis
- Unexplained kidney failure in young people
- Bleeding and platelet disorders
- DDG2P
- Renal tubulopathies
- Intellectual disability
- Likely inborn error of metabolism
- Ichthyosis and erythrokeratoderma
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: VIPAS39 were changed from Neonatal and Adult Cholestasis; Arthrogryposis, renal dysfunction, and cholestasis 2, 613404; Arthrogryposis, Renal Dysfunction, and Cholestasis 2; ARC syndrome; Arthrogryposis-renal-cholestasis syndrome to Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404; ARC syndrome
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: vipas39 has been classified as Green List (High Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: VIPAS39 were set to Neonatal and Adult Cholestasis; Arthrogryposis, renal dysfunction, and cholestasis 2, 613404; Arthrogryposis, Renal Dysfunction, and Cholestasis 2; ARC syndrome; Arthrogryposis-renal-cholestasis syndrome
Added New Source
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to VIPAS39. Panel: Cholestasis
Added New Source, Set mode of inheritance, Set penetrance
Ellen McDonagh (Genomics England Curator)UKGTN was added to VIPAS39. Panel: Cholestasis Model of inheritance for gene VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene VIPAS39 were set to Neonatal and Adult Cholestasis, Arthrogryposis, renal dysfunction, and cholestasis 2, 613404, Arthrogryposis, Renal Dysfunction, and Cholestasis 2
Added New Source, Set penetrance
Ellen McDonagh (Genomics England Curator)Radboud University Medical Center, Nijmegen was added to VIPAS39. Panel: Cholestasis Phenotypes for gene VIPAS39 were set to Neonatal and Adult Cholestasis, Arthrogryposis, renal dysfunction, and cholestasis 2, 613404
Added New Source
Ellen McDonagh (Genomics England Curator)VIPAS39 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)VIPAS39 was created by Ellen McDonagh