FA2H

fatty acid 2-hydroxylase
OMIM: 611026, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
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