RTN4IP1

reticulon 4 interacting protein 1
OMIM: 610502, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green RTN4IP1 in Optic neuropathy Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.30 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH Expert Review Green Literature Phenotypes early-onset recessive optic neuropathy
Green RTN4IP1 in Likely inborn error of metabolism - targeted testing not possible Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	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
Green RTN4IP1 in Possible mitochondrial disorder - nuclear genes Version 3.106 Latest signed off version: v3.105 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732
Red RTN4IP1 in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes EARLY-ONSET RECESSIVE OPTIC NEUROPATHY
Green RTN4IP1 in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EARLY-ONSET RECESSIVE OPTIC NEUROPATHY
Green RTN4IP1 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 5.10 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Expert Review Phenotypes Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732
Green RTN4IP1 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.13 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Optic atrophy 10, with or without ataxia, mental retardation, and seizures
Green RTN4IP1 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 6.4 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732
Amber RTN4IP1 in Retinal disorders Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 5.4 Latest signed off version: v5.0 (1 May 2024)	review	Not set	Sources NHS GMS RetNet Expert Review Amber
Green RTN4IP1 in Severe Paediatric Disorders Version 1.184	review	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