Genomics England

FA2H

fatty acid 2-hydroxylase

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Ataxia and cerebellar anomalies - childhood onset Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies, childhood onset Signed-off version 9.22	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 35, autosomal recessive OMIM:612319, hereditary spastic paraplegia 35 MONDO:0012866
Green in Dystonia, chorea or related movement disorder, childhood onset R-numbers: R57 Signed-off version 8.13	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 Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 8.30	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 35, autosomal recessive, OMIM:612319, hereditary spastic paraplegia 35, MONDO:0012866
Green in Hereditary spastic paraplegia, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 35, autosomal recessive, OMIM:612319, hereditary spastic paraplegia 35, MONDO:0012866
Green in Hereditary spastic paraplegia, childhood onset R-numbers: R61 Signed-off version 9.7	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: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	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 - childhood onset Component of the following Super Panels: - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 8.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 35, autosomal recessive OMIM:612319, hereditary spastic paraplegia 35 MONDO:0012866