Genomics England

FA2H

fatty acid 2-hydroxylase

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Adult onset hereditary spastic paraplegia R-numbers: R60 Signed-off version 5.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 35, autosomal recessive, OMIM:612319, hereditary spastic paraplegia 35, MONDO:0012866
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 7.19	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 35, autosomal recessive OMIM:612319, hereditary spastic paraplegia 35 MONDO:0012866
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 6.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes fatty acid hydroxylase-associated neurodegeneration, Dystonia, Spastic paraplegia 35, autosomal recessive, OMIM:612319, hereditary spastic paraplegia 35, MONDO:0012866
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 7.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 35, autosomal recessive, OMIM:612319, hereditary spastic paraplegia 35, MONDO:0012866
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 6.163	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 35, autosomal recessive, OMIM:612319, hereditary spastic paraplegia 35, MONDO:0012866
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 7.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 35, autosomal recessive, OMIM:612319, hereditary spastic paraplegia 35, MONDO:0012866
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 35, autosomal recessive OMIM:612319, hereditary spastic paraplegia 35 MONDO:0012866