Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Regression

Gene: RNH1

Green List (high evidence)

RNH1 (ribonuclease/angiogenin inhibitor 1)
EnsemblGeneIds (GRCh38): ENSG00000023191
EnsemblGeneIds (GRCh37): ENSG00000023191
OMIM: 173320, Gene2Phenotype
RNH1 is in 5 panels

3 reviews

Dean Phelan (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 37191094
WES/WGS in a cohort of patients with acute encephalopathy following viral infection, identified four unrelated families with rare biallelic variants in RNH1. Western blot performed on two families showed significantly reduced RNH1 protein expression in affected individuals. Summary - Biallelic variants in RNH1 confer susceptibility to a sub-type of acute necrotizing encephalopathy (ANE2) in previously healthy children. Immunological treatments may alter outcomes.
Created: 1 Jun 2023, 1:59 a.m. | Last Modified: 1 Jun 2023, 1:59 a.m.
Panel Version: 0.525

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder, MONDO:0700092, RNH1-related

Krithika Murali (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 36935417 report two siblings from a consanguineous Somali family with homozygous RNH1 splice site variant (c.615-2A>C) with congenital cataracts, global developmental delay, hypotonia, seizures (focal and generalised) and regression in the context of infection. RT-PCR and RNASeq of skeletal muscle supported exon 7 skipping with an in-frame deletion involving 57 amino acids with reduced expression on Western blot analysis.
Sources: Literature
Created: 6 Apr 2023, 2:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
RNH1-related disorder

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, RNH1-related
  • {Encephalopathy, acute, infection-induced, susceptibiliyt to, 12}, MIM# 620461
OMIM
173320
Clinvar variants
Variants in RNH1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Aug 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RNH1 were changed from Neurodevelopmental disorder, MONDO:0700092, RNH1-related; encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related to Neurodevelopmental disorder, MONDO:0700092, RNH1-related; {Encephalopathy, acute, infection-induced, susceptibiliyt to, 12}, MIM# 620461

1 Jun 2023, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: RNH1 were set to PMID: 36935417; 37191094

1 Jun 2023, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: RNH1 were changed from Neurodevelopmental disorder, MONDO:0700092, RNH1-related; encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related to Neurodevelopmental disorder, MONDO:0700092, RNH1-related; encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related

1 Jun 2023, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: RNH1 were changed from Neurodevelopmental disorder, MONDO:0700092, RNH1-related to Neurodevelopmental disorder, MONDO:0700092, RNH1-related; encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related

1 Jun 2023, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: RNH1 were set to PMID: 36935417

1 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: rnh1 has been classified as Green List (High Evidence).

6 Apr 2023, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RNH1 were changed from RNH1-related disorder to Neurodevelopmental disorder, MONDO:0700092, RNH1-related

6 Apr 2023, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: rnh1 has been classified as Red List (Low Evidence).

6 Apr 2023, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: rnh1 has been classified as Red List (Low Evidence).

6 Apr 2023, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: RNH1 was added gene: RNH1 was added to Regression. Sources: Literature Mode of inheritance for gene: RNH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNH1 were set to PMID: 36935417 Phenotypes for gene: RNH1 were set to RNH1-related disorder Review for gene: RNH1 was set to AMBER