Cholestasis
Gene: VIPAS39EnsemblGeneIds (GRCh38): ENSG00000151445
EnsemblGeneIds (GRCh37): ENSG00000151445
OMIM: 613401, Gene2Phenotype
VIPAS39 is in 13 panels
1 review
Chern Lim (Victorian Clinical Genetics Services)
PMID:20190753: 7 unrelated ARC patients hom/chet with protein-truncating variants or start-loss variant. Knockdown of gene in zebrafish resulted in biliary excretion and E-cadherin defects similar to those in individuals with ARC.Created: 25 May 2020, 6:37 a.m. | Last Modified: 25 May 2020, 6:44 a.m.
Panel Version: 0.21
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404
Publications
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
- Phenotypes
-
- Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404
- OMIM
- 613401
- Clinvar variants
- Variants in VIPAS39
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Cholestasis
- Arthrogryposis
- Mendeliome
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Renal Tubulopathies and related disorders
- Intellectual disability syndromic and non-syndromic
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: vipas39 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: VIPAS39 were changed from to Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: VIPAS39 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: VIPAS39 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: VIPAS39 was added gene: VIPAS39 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: VIPAS39 was set to Unknown