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Arthrogryposis

Gene: VIPAS39

Green List (high evidence)

VIPAS39 (VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog)
EnsemblGeneIds (GRCh38): ENSG00000151445
EnsemblGeneIds (GRCh37): ENSG00000151445
OMIM: 613401, Gene2Phenotype
VIPAS39 is in 15 panels

2 reviews

Julie Vogt (West Midlands Regional Genetics Service)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
arthrogryposis, renal dysfunction and cholestasis syndrome (ARC)

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Green review, and it is a confirmed DD gene for arthrogryposis.
Created: 19 May 2016, 12:22 p.m.
Is a red gene on the CAKUT version 1 panel. No external reviews. Is a confirmed DD gene for ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2.
Created: 3 May 2016, 1:55 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 2, 613404
  • arthrogryposis, renal dysfunction and cholestasis syndrome (ARC)
OMIM
613401
Clinvar variants
Variants in VIPAS39
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

21 Dec 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

VIPAS39 was added to Arthrogryposispanel. Source: Expert list

19 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2, 613404; arthrogryposis, renal dysfunction and cholestasis syndrome (ARC)

19 May 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for VIPAS39 were set to PMID: 20190753

19 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 May 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for VIPAS39 was changed to BIALLELIC, autosomal or pseudoautosomal

28 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

VIPAS39 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen