Mitochondrial disorders
Gene: RTN4IP1

RTN4IP1 (reticulon 4 interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000130347
EnsemblGeneIds (GRCh37): ENSG00000130347
OMIM: 610502, Gene2Phenotype
RTN4IP1 is in 9 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 11 variants reported in at least 8 unrelated cases.
Created: 25 Apr 2019, 12:48 p.m.

Created: 25 Apr 2019, 12:48 p.m.

Panel version: 1.198

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Over 10 families now reported in the literature with bi-allelic variants in this gene, which encodes a mitochondrial protein.
Created: 31 Aug 2018, 7:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Optic atrophy 10 with or without ataxia, mental retardation, and seizures, MIM#616732

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 31 Aug 2018, 7:09 a.m.

Panel version: 1.67

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732

OMIM

610502

Clinvar variants

Variants in RTN4IP1

Penetrance

None

Publications

Panels with this gene