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Severe Paediatric Disorders

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: RTN4IP1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:25 p.m. | Last Modified: 20 Feb 2020, 5:25 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
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

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)