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Genetic epilepsy syndromes

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

3 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR optic atrophy 10, with or without ataxia, mental retardation and seizures. According to OMIM generalised seizures are a rare feature. I family reported on OMIM by Angebault et al - 2 sibs (1 had seizures)with a hom missense variant. They also found this variant in two simplex case individuals of Roma origin ? founder effect. Also 2 non-consang sisters compound het for missense and nonsense variants.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Gene originally listed on the Intellectual disability panel V2.42.
Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene. At least 13 variants reported in 12 families, seizures were reported in at least 4 families.
Created: 10 Apr 2018, 3:35 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

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 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

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to RTN4IP1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to RTN4IP1.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Gene originally listed on the

10 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

RTN4IP1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review

10 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

RTN4IP1 was created by Sarah Leigh