Optic Atrophy
Gene: RTN4IP1EnsemblGeneIds (GRCh38): ENSG00000130347
EnsemblGeneIds (GRCh37): ENSG00000130347
OMIM: 610502, Gene2Phenotype
RTN4IP1 is in 8 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
PMID: 26593267 - 4 families with hom missense or chet w/ PTCs and optic atrophy
PMID: 31077085 - 1 fam (2 chet sibs) w/ missense and PTC and optic atrophy
Sources: Expert ReviewCreated: 14 Apr 2020, 11:52 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Optic atrophy 10 with or without ataxia, mental retardation, and seizures
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Optic atrophy 10 with or without ataxia, mental retardation, and seizures
- OMIM
- 610502
- Clinvar variants
- Variants in RTN4IP1
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rtn4ip1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rtn4ip1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Elena Savva (Victorian Clinical Genetics Services)gene: RTN4IP1 was added gene: RTN4IP1 was added to Optic Atrophy. Sources: Expert Review Mode of inheritance for gene: RTN4IP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RTN4IP1 were set to PMID: 26593267; 31077085 Phenotypes for gene: RTN4IP1 were set to Optic atrophy 10 with or without ataxia, mental retardation, and seizures Penetrance for gene: RTN4IP1 were set to unknown Review for gene: RTN4IP1 was set to GREEN