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DDG2P

Gene: RNH1

Green List (high evidence)
RNH1 (ribonuclease/angiogenin inhibitor 1)
EnsemblGeneIds (GRCh38): ENSG00000023191
EnsemblGeneIds (GRCh37): ENSG00000023191
OMIM: 173320, Gene2Phenotype
RNH1 is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease RNH1-related susceptibility to infection-related encephalopathy is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 37191094;36935417).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
RNH1-related susceptibility to infection-related encephalopathy

Publications

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 4.10

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RNH1-related susceptibility to infection-related encephalopathy
OMIM
173320
Clinvar variants
Variants in RNH1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: RNH1 was added gene: RNH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RNH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNH1 were set to 36935417; 37191094 Phenotypes for gene: RNH1 were set to RNH1-related susceptibility to infection-related encephalopathy