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Inborn errors of metabolism

Gene: RTN4IP1

Green List (high evidence)

RTN4IP1 (reticulon 4 interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000130347
EnsemblGeneIds (GRCh37): ENSG00000130347
OMIM: 610502, Gene2Phenotype
RTN4IP1 is in 10 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.

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to RTN4IP1. Mode of inheritance for gene RTN4IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732 for gene: RTN4IP1 Publications for gene RTN4IP1 were changed from to 28638143; 26593267; 29181510 Rating Changed from Red List (low evidence) to Green List (high evidence)

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: RTN4IP1 was added gene: RTN4IP1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: RTN4IP1 was set to Unknown