Optic neuropathy
Gene: RTN4IP1EnsemblGeneIds (GRCh38): ENSG00000130347
EnsemblGeneIds (GRCh37): ENSG00000130347
OMIM: 610502, Gene2Phenotype
RTN4IP1 is in 9 panels
3 reviews
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
early-onset recessive optic neuropathy
Publications
Ellen Thomas (Genomics England Curator)
Comment on list classification: Sufficient evidence; more than one individual variant found.Created: 11 Sep 2016, 9:16 a.m.
Ellen McDonagh (Genomics England Curator)
Homozygous/compound heterozygous variants reported in 4 families, with additional functional evidence (PMID: 26593267). The homozygous c.308G>A variant was identified in a consangineous Moroccan family with autosomal recessive inherited optic neuropathy. Four additional affected subjects with the same variant were identified in a European cohort. These included two patients homozygous for the c.308G>A variant on the same haplotype from two families of Roma origin, suggesting a founder effect, and two sisters who were compound heterozygous for the same variant and a truncating variant (c. 601A>T).Created: 6 Sep 2016, 3:19 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
early-onset recessive optic neuropathy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- London North GLH
- Expert Review Green
- Literature
- Phenotypes
-
- early-onset recessive optic neuropathy
- OMIM
- 610502
- Clinvar variants
- Variants in RTN4IP1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source London North GLH was added to RTN4IP1. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)13.09.2016: 'Inherited optic neuropathies' was removed as a relevant disorder from the Posterior segment abnormalities gene panel (version 1.9) and this panel was approved to live. It has been internally reviewed and revised based on evidence available for each gene, and was promoted to version 1 to be used for analysis.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Created
Ellen McDonagh (Genomics England Curator)RTN4IP1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)RTN4IP1 was added to Inherited optic neuropathiespanel. Sources: Literature