Neonatal cholestasis

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 16 panels

2 reviews

Jane Hartley (Birmingham Women and Children's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ARC syndrome; arthrogryposis-renal-cholestasis syndrome

Thalia Antoniadi (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

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
  • Neonatal and Adult Cholestasis
  • Arthrogryposis, renal dysfunction, and cholestasis 2, 613404
  • Arthrogryposis, Renal Dysfunction, and Cholestasis 2
  • ARC syndrome
  • Arthrogryposis-renal-cholestasis syndrome
OMIM
613401
Clinvar variants
Variants in VIPAS39
Penetrance
None
Panels with this gene

History Filter Activity

3 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

25 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: vipas39 has been classified as Green List (High Evidence).

25 Jul 2018, Gel status: 3

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

21 Jun 2018, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to VIPAS39. Panel: Cholestasis

18 May 2018, Gel status: 3

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

18 May 2018, Gel status: 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

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

VIPAS39 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

VIPAS39 was created by Ellen McDonagh