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Gene: RTN4IP1

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

1 review

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

Onset of visual dysfunction in early childhood (OMIM), neurodevelopmental features are variably present but this gene is green on the ID panel.

Charif et al. (2018) identified 12 individuals from 11 families with OPA10. The patients ranged in age from 5 months to 32 years. Six of the families had a member who presented with isolated optic atrophy, whereas all affected members in the other 5 families presented with severe neurologic syndromes including optic atrophy, seizures, intellectual disability, growth restriction, and elevated lactate levels. Additional features in the most severely affected families included deafness, abnormalities on brain MRI, stridor, and abnormal EEG patterns; in 2 of these families, death occurred before the age of 1 year and 5 years. (OMIM)
Created: 25 Oct 2024, 5:27 a.m. | Last Modified: 25 Oct 2024, 5:27 a.m.
Panel Version: 1.486

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Optic atrophy 10 with or without ataxia, impaired intellectual development and seizures MIM#616732

Created: 25 Oct 2024, 5:27 a.m.
Last Modified: 25 Oct 2024, 5:27 a.m.
Panel version: 1.486

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Optic atrophy 10 with or without ataxia, impaired intellectual development and seizures MIM#616732
OMIM
610502
Clinvar variants
Variants in RTN4IP1
Penetrance
None
Panels with this gene

History Filter Activity

30 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rtn4ip1 has been classified as Green List (High Evidence).

30 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RTN4IP1 were changed from Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (3), Autosomal recessive to Optic atrophy 10 with or without ataxia, impaired intellectual development and seizures MIM#616732

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RTN4IP1 was added gene: RTN4IP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RTN4IP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RTN4IP1 were set to Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (3), Autosomal recessive