Mitochondrial disease
Gene: RTN4IP1

RTN4IP1 (reticulon 4 interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000130347
EnsemblGeneIds (GRCh37): ENSG00000130347
OMIM: 610502, Gene2Phenotype
RTN4IP1 is in 8 panels

1 review

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 26593267 - 4 families with hom missense or chet w/ PTCs and optic atrophy
Four unrelated families described, three had the same homozygous variant, suggestive of founder effect (one family Moroccan, the other two Roma). Fourth family: compound het of founder variant and a novel truncating variant.

PMID: 31077085 - 1 fam (2 chet sibs) w/ missense and PTC and optic atrophy
Created: 6 Apr 2022, 1:24 a.m. | Last Modified: 6 Apr 2022, 1:24 a.m.

Panel Version: 0.12573

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: 6 Apr 2022, 1:24 a.m.
Last Modified: 6 Apr 2022, 1:24 a.m.
Panel version: Imported from Mendeliome panel version 0.12573

Details

Mode of Inheritance

Unknown

Sources

Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship
Expert Review Green

OMIM

610502

Clinvar variants

Variants in RTN4IP1

Penetrance

None

Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RTN4IP1 was added gene: RTN4IP1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: RTN4IP1 was set to Unknown

Mitochondrial disease Gene: RTN4IP1