Regression

Gene: RNH1

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

• PMID: 37191094

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder, MONDO:0700092, RNH1-related

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

• PMID: 36935417