Cholestasis
Gene: VIPAS39
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ARC syndrome; arthrogryposis-renal-cholestasis syndrome
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
Gene: vipas39 has been classified as Green List (High Evidence).
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
Source Expert Review Green was added to VIPAS39. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: VIPAS39 was added gene: VIPAS39 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: VIPAS39 was set to