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 1.152	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Phenotypes Dystonia fatty acid hydroxylase-associated neurodegeneration
Green FA2H in White matter disorders and cerebral calcification - narrow panel Level 2: Neurology Version 7.11 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spastic paraplegia 35, autosomal recessive OMIM:612319 hereditary spastic paraplegia 35 MONDO:0012866
Green FA2H in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Spastic paraplegia 35, autosomal recessive OMIM:612319 hereditary spastic paraplegia 35 MONDO:0012866
Green FA2H in Structural basal ganglia disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.40	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 1.186	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 1.316	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 Childhood onset hereditary spastic paraplegia Level 2: Neurology Version 8.30 Latest signed off version: v8.0 (30 Apr 2025)	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, OMIM:612319 hereditary spastic paraplegia 35, MONDO:0012866
Green FA2H in Adult onset hereditary spastic paraplegia Level 2: Neurology Version 6.7 Latest signed off version: v6.0 (30 Apr 2025)	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, OMIM:612319 hereditary spastic paraplegia 35, MONDO:0012866
Red FA2H in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	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 1.642	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 Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list London North GLH NHS GMS Expert Review Green Phenotypes Spastic paraplegia 35, autosomal recessive, OMIM:612319 hereditary spastic paraplegia 35, MONDO:0012866
Red FA2H in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.506	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
Red FA2H in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red 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 2: Mitochondrial Version 9.41 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	Not set	Sources Expert list Phenotypes Spastic paraplegia 35, autosomal recessive 612319
Red FA2H in Adult onset dystonia, chorea or related movement disorder Level 2: Neurology Version 5.3 Latest signed off version: v5.0 (30 Apr 2025)	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
Green FA2H in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS NHS GMS London North GLH Phenotypes Spastic paraplegia 35, autosomal recessive, OMIM:612319 hereditary spastic paraplegia 35, MONDO:0012866
Green FA2H in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	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, OMIM:612319 hereditary spastic paraplegia 35, MONDO:0012866