FA2H

fatty acid 2-hydroxylase
OMIM: 611026, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green FA2H in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.81	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Phenotypes Dystonia fatty acid hydroxylase-associated neurodegeneration
Red FA2H in White matter disorders and cerebral calcification - narrow panel Version 1.14 Signed off v.1.12 on 2 Mar 2020 Component of the following Super Panels: White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red
Green FA2H in Structural basal ganglia disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.17	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 35, autosomal recessive 612319
Red FA2H in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.71	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review
Green FA2H in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.215	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Radboud University Medical Center, Nijmegen UKGTN Phenotypes Spastic paraplegia 35, autosomal recessive
Green FA2H in Hereditary spastic paraplegia - childhood onset Version 2.12 Signed off v.2.8 on 2 Mar 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Expert list UKGTN Radboud University Medical Center, Nijmegen Phenotypes Spastic paraplegia 35, autosomal recessive, 612319
Green FA2H in Hereditary spastic paraplegia - adult onset Version 1.7 Signed off v.1.3 on 2 Mar 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Spastic paraplegia 35, autosomal recessive, 611026
Red FA2H in Neurodegenerative disorders - adult onset Version 2.4 Signed off v.2.2 on 2 Mar 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Dystonia fatty acid hydroxylase-associated neurodegeneration Spastic paraplegia 35, autosomal recessive
Green FA2H in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.414	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Fatty acid 2-hydroxylase deficiency (Disorders of complex lipid synthesis) Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism) Early onset dystonia Hereditary spastic paraplegia
Green FA2H in Inborn errors of metabolism Version 2.8 Signed off v.2.3 on 17 Feb 2020 Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list London North GLH NHS GMS Expert Review Green 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
Red FA2H in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.368	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Phenotypes Spastic paraplegia 35, autosomal recessive, 612319 SPG35, Childhood onset spasticity, cognitive decline and leukodystrophy. Mild sensory axonal neuropathy on NCS. Epilepsy, dysphagia, dysarthria and dystonia also observed
Green FA2H in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.73 Signed off v.3.2 on 13 Feb 2020 Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spastic paraplegia 35, autosomal recessive, 612319 spastic paraplegia with ID cognitive defects Seizures
Red FA2H in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 2.6 Signed off v.2.4 on 17 Feb 2020 Component of the following Super Panels: White matter disorders - childhood onset	review	Not set	Sources Expert list Phenotypes Spastic paraplegia 35, autosomal recessive 612319
Red FA2H in Adult onset movement disorder Version 1.5 Signed off v.1.2 on 2 Mar 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Phenotypes fatty acid hydroxylase-associated neurodegeneration Spastic paraplegia 35, autosomal recessive 612319 Dystonia
Red FA2H in Hereditary neuropathy NOT PMP22 copy number Version 1.4 Signed off v.1.2 on 27 Feb 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS NHS GMS London North GLH Phenotypes SPG35, Childhood onset spasticity, cognitive decline and leukodystrophy. Mild sensory axonal neuropathy on NCS. Epilepsy, dysphagia, dysarthria and dystonia also observed Spastic paraplegia 35, autosomal recessive, 612319
Green FA2H in Childhood onset dystonia or chorea or related movement disorder Version 1.4 Signed off v.1.2 on 25 Feb 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources PanelApp Expert Review Green London North GLH Phenotypes fatty acid hydroxylase-associated neurodegeneration Dystonia Spastic paraplegia 35, autosomal recessive 612319
Green FA2H in Severe Paediatric Disorders Version 1.6	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Spastic paraplegia 35, autosomal recessive, 612319