Liver Failure_Paediatric
Gene: RINT1
RINT1 (RAD50 interactor 1)
EnsemblGeneIds (GRCh38): ENSG00000135249
EnsemblGeneIds (GRCh37): ENSG00000135249
OMIM: 610089, Gene2Phenotype
RINT1 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000135249
EnsemblGeneIds (GRCh37): ENSG00000135249
OMIM: 610089, Gene2Phenotype
RINT1 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Recurrent episodes of acute liver failure during intercurrent febrile illness. Patients first present in infancy or early childhood, and there usually is complete recovery between episodes with conservative treatment. Affected individuals also have skeletal anomalies of the vertebral bodies and femoral heads.
Three unrelated families reported.
Sources: Expert listCreated: 1 Nov 2020, 12:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile liver failure syndrome 3, MIM# 618641
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Infantile liver failure syndrome 3, MIM# 618641
- OMIM
- 610089
- Clinvar variants
- Variants in RINT1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
1 Nov 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rint1 has been classified as Green List (High Evidence).
1 Nov 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rint1 has been classified as Green List (High Evidence).
1 Nov 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RINT1 was added gene: RINT1 was added to Acute Liver Failure_Paediatric. Sources: Expert list 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, MIM# 618641 Review for gene: RINT1 was set to GREEN