Cholestasis
Gene: VIPAS39EnsemblGeneIds (GRCh38): ENSG00000151445
EnsemblGeneIds (GRCh37): ENSG00000151445
OMIM: 613401, Gene2Phenotype
VIPAS39 is in 17 panels
3 reviews
Ivone Leong (Genomics England Curator)
Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 31 Jan 2019, 10:43 a.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: VIPAS39; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 7 Jan 2019, 4:42 p.m.
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
- Other
- NHS GMS
- 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 Arthrogryposis, Renal Dysfunction, and Cholestasis 2; ARC syndrome; Arthrogryposis-renal-cholestasis syndrome; Neonatal and Adult Cholestasis; Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 to Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404; ARC syndrome
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: vipas39 has been classified as Green List (High Evidence).
Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)Source Other was added to VIPAS39. Mode of inheritance for gene VIPAS39 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Arthrogryposis, Renal Dysfunction, and Cholestasis 2; ARC syndrome; Arthrogryposis-renal-cholestasis syndrome; Neonatal and Adult Cholestasis; Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 for gene: VIPAS39
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to VIPAS39. Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: VIPAS39 was added gene: VIPAS39 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: VIPAS39 was set to