Genomics England

SLC25A46

solute carrier family 25 member 46

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebellar ataxia, MONDO:0000437, Pontocerebellar hypoplasia, type 1E, MIM# 619303, MONDO:0030260, Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Pontocerebellar hypoplasia, type 1E, OMIM:619303
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebellar ataxia, MONDO:0000437, Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 4.11	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neuropathy, hereditary motor and sensory, type VIB, OMIM:616505, Pontocerebellar hypoplasia, type 1E, OMIM:619303, MONDO:0030260
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 5.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes optic atrophy spectrum disorder
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes optic atrophy spectrum disorder
Green in Optic neuropathy R-numbers: R41 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Optic atrophy, MONDO:0003608, Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505, Pontocerebellar hypoplasia, type 1E, MIM# 619303, MONDO:0030260
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neuropathy, hereditary motor and sensory, type VIB, 616505