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Cataract

Gene: RNH1

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

3 reviews

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

Created: 6 Apr 2023, 7:06 a.m.
Last Modified: 6 Apr 2023, 7:06 a.m.
Panel version: 0.351

Seb Lunke (Victorian Clinical Genetics Services)

Comment on list classification: One consanguineous family only
Created: 6 Apr 2023, 2:34 a.m. | Last Modified: 6 Apr 2023, 2:34 a.m.
Panel Version: 0.351
Created: 6 Apr 2023, 2:34 a.m.
Last Modified: 6 Apr 2023, 2:34 a.m.
Panel version: 0.351

Krithika Murali (Victorian Clinical Genetics Services)

I don't know

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, regression in the context of infection and seizures. 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, 2:20 a.m. | Last Modified: 6 Apr 2023, 2:25 a.m.
Panel Version: 0.350

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
RNH1-related disease

Publications

Created: 6 Apr 2023, 2:20 a.m.
Last Modified: 6 Apr 2023, 2:25 a.m.
Panel version: 0.350

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, RNH1-related
OMIM
173320
Clinvar variants
Variants in RNH1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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 disease 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 Cataract. 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 disease Review for gene: RNH1 was set to AMBER