Genomics England

RTN4IP1

reticulon 4 interacting protein 1

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes EARLY-ONSET RECESSIVE OPTIC NEUROPATHY
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 6.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Optic atrophy 10, with or without ataxia, mental retardation, and seizures
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 6.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 7.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732
Green in Optic neuropathy R-numbers: R41 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes early-onset recessive optic neuropathy
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732