Cholestasis

Gene: RINT1

Amber List (moderate evidence)

RINT1 (RAD50 interactor 1)
EnsemblGeneIds (GRCh38): ENSG00000135249
EnsemblGeneIds (GRCh37): ENSG00000135249
OMIM: 610089, Gene2Phenotype
RINT1 is in 4 panels

1 review

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Promoting this gene from red to amber, but with recommendation for green rating, pending review of whether the phenotype is within the scope of this panel.
Created: 27 Jan 2021, 4:45 p.m. | Last Modified: 27 Jan 2021, 4:45 p.m.
Panel Version: 1.78
Associated with Infantile liver failure syndrome 3 #618641 (AR) in OMIM. Probable association with Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities in Gene2Phenotype.

PMID:31204009 - Cousin et al 2019 - describe 3 unrelated children with recurrent acute liver failure (RALF) and skeletal abnormalities who were found by WES to have compound heterozygous alterations in RINT1. All had splice alterations at the same position (c.1333+1G>A or G>T) together with a missense (p.Ala368Thr or p.Leu370Pro) or in-frame deletion (p.Val618_Lys619del). One variant was inherited from each parent. 2 of the 3 children had short stature. Imaging showed that they had abnormalities affecting the vertebrae and pelvis. Studies on patient dermal fibroblasts showed that the splice-variant results in skipping of exon 9 leading to an out-of-frame product and nonsense-mediated transcript decay and that there was decreased RINT1 protein levels, abnormal Golgi morphology, and impaired autophagic flux compared to control fibroblasts.
Sources: Literature
Created: 27 Jan 2021, 4:44 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Infantile liver failure syndrome 3 OMIM:618641; infantile liver failure syndrome 3 MONDO:0032844

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Infantile liver failure syndrome 3 OMIM:618641
  • infantile liver failure syndrome 3 MONDO:0032844
Tags
for-review
OMIM
610089
Clinvar variants
Variants in RINT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: rint1 has been classified as Amber List (Moderate Evidence).

27 Jan 2021, Gel status: 1

Added Tag

Eleanor Williams (Genomics England Curator)

Tag for-review tag was added to gene: RINT1.

27 Jan 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: RINT1 was added gene: RINT1 was added to Cholestasis. Sources: Literature Mode of inheritance for gene: RINT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RINT1 were set to 31204009 Phenotypes for gene: RINT1 were set to Infantile liver failure syndrome 3 OMIM:618641; infantile liver failure syndrome 3 MONDO:0032844 Review for gene: RINT1 was set to GREEN