Neonatal cholestasis

Gene: UTP4

Red List (low evidence)

UTP4 (UTP4, small subunit processome component)
EnsemblGeneIds (GRCh38): ENSG00000141076
EnsemblGeneIds (GRCh37): ENSG00000141076
OMIM: 607456, Gene2Phenotype
UTP4 is in 2 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Based on literature review
Created: 21 Aug 2018, 8:44 a.m.

Eleanor Williams (Genomics England Curator)

OMIM reports that a R565W homozygous substitution was found in all patients from 5 families with North American Indian childhood cirrhosis (NAIC; 604901), Chagnon et al. (2002)(PMID: 12417987). Function evidence from Freed et al. (2012) (PMID:22916032) reported that this variant reduces interaction between cirhin and NOL11. However, Lek et al. (2016)(PMID:22916032) found that the ExAC database contained 222 heterozygous and 4 homozygous Latino individuals carrying the CIRH1A (UPT4) R565W mutation, for a population frequency of 1.92%. The 4 homozygous individuals had no history of liver disease; recontact with 2 of them revealed normal liver function at ages 56 and 53. Lek et al. (2016) classified this variant as benign. Gene2Phenotype lists the association of CIRH1A and NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS as possible. A literature search didn't find any other publications supporting an association of this gene with cholestasis or other neonatal liver disease.
Created: 15 Aug 2018, 1:24 p.m.


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Red
  • North American Indian Childhood Cirrhosis
Clinvar variants
Variants in UTP4
Panels with this gene

History Filter Activity

3 Sep 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

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

21 Aug 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: utp4 has been classified as Red List (Low Evidence).

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

UTP4 was added to Cholestasis panel. Sources: UKGTN

18 May 2018, Gel status: 1


Ellen McDonagh (Genomics England Curator)

UTP4 was created by Ellen McDonagh