Genomics England

FA2H

fatty acid 2-hydroxylase

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Adult onset hereditary spastic paraplegia R-numbers: R60 Signed-off version 3.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 35, autosomal recessive, 611026
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 4.0	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 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes fatty acid hydroxylase-associated neurodegeneration, Dystonia, Spastic paraplegia 35, autosomal recessive 612319
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 35, autosomal recessive, 612319
Green in Likely inborn error of metabolism - targeted testing not possible 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 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fatty acid 2-hydroxylase deficiency (Disorders of complex lipid synthesis), Early onset dystonia, Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism), Hereditary spastic paraplegia
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 35, autosomal recessive OMIM:612319, hereditary spastic paraplegia 35 MONDO:0012866