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  3. VIPAS39
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Inherited bleeding disorders

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 17 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ARC syndrome (Arthrogryposis, renal dysfunction, and cholestasis 1)

Created: 19 Dec 2016, 11:31 a.m.

Panel version: 0.18

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ARC syndrome (Arthrogryposis, renal dysfunction, and cholestasis 1)

Variants in this GENE are reported as part of current diagnostic practice

Created: 19 Dec 2016, 11:18 a.m.

Panel version: 0.17

History Filter Activity

27 Mar 2025, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: VIPAS39 were changed from ARC syndrome (Arthrogryposis, renal dysfunction, and cholestasis 1) to Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404; ARC syndrome

19 Dec 2016, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

VIPAS39 was added to Inherited bleeding disorderspanel. Source: Expert Review Green

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

VIPAS39 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

VIPAS39 was created by ellenmcdonagh