Optic neuropathy
Gene: RTN4IP1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
early-onset recessive optic neuropathy
Publications
Comment on list classification: Sufficient evidence; more than one individual variant found.Created: 11 Sep 2016, 9:16 a.m.
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
Source London North GLH was added to RTN4IP1. Rating Changed from Green List (high evidence) to Green List (high evidence)
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.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
RTN4IP1 was created by ellenmcdonagh
RTN4IP1 was added to Inherited optic neuropathiespanel. Sources: Literature