Regression
Gene: RNH1
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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder, MONDO:0700092, RNH1-related
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: LiteratureCreated: 6 Apr 2023, 2:21 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
RNH1-related disorder
Publications
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
Publications for gene: RNH1 were set to PMID: 36935417; 37191094
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
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
Publications for gene: RNH1 were set to PMID: 36935417
Gene: rnh1 has been classified as Green List (High Evidence).
Phenotypes for gene: RNH1 were changed from RNH1-related disorder to Neurodevelopmental disorder, MONDO:0700092, RNH1-related
Gene: rnh1 has been classified as Red List (Low Evidence).
Gene: rnh1 has been classified as Red List (Low Evidence).
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