VIPAS39

VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
OMIM: 613401, ClinGen, DECIPHER

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green VIPAS39 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404

Green VIPAS39 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 2, MIM# 613404

Green VIPAS39 in Cholestasis


Level 2: Gastroenterological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404

Green VIPAS39 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404

Green VIPAS39 in Lysosomal Storage Disorder


Level 2: Metabolic conditions
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 2, MIM# 613404

Green VIPAS39 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 2
  • OMIM #613404

Green VIPAS39 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3)

Green VIPAS39 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Arthrogryposis, renal dysfunction and cholestasis

Green VIPAS39 in Fetal anomalies


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM #613404

Green VIPAS39 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3)

Red VIPAS39 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis MIM#613404

Green VIPAS39 in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404

Green VIPAS39 in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 2, MIM# 613404