FA2H

fatty acid 2-hydroxylase
OMIM: 611026, Gene2Phenotype

18 panels

Panel Reviews Mode of inheritance Details
18 panels

Green FA2H in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.117

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
  • fatty acid hydroxylase-associated neurodegeneration

Amber FA2H in White matter disorders and cerebral calcification - narrow panel


Version 1.240
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Spastic paraplegia 35, autosomal recessive OMIM:612319
    • hereditary spastic paraplegia 35 MONDO:0012866
    Tags
    • Q2_21_rating

    Amber FA2H in Ataxia and cerebellar anomalies - narrow panel


    Version 2.300
    Latest signed off version: v2.23 (8 Oct 2020)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Spastic paraplegia 35, autosomal recessive OMIM:612319
    • hereditary spastic paraplegia 35 MONDO:0012866
    Tags
    • Q2_21_rating

    Green FA2H in Structural basal ganglia disorders

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.32

    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 1.159

    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 1.295

    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 2.144
    Latest signed off version: v2.18 (8 Oct 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 1.102
    Latest signed off version: v1.27 (5 Aug 2021)

    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 2.275
    Latest signed off version: v2.178 (5 Aug 2021)

    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 1.542

    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 2.263
    Latest signed off version: v2.3 (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 1.454

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1651
    Latest signed off version: v3.2 (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 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 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.117
    Latest signed off version: v2.4 (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 1.170
    Latest signed off version: v1.121 (5 Aug 2021)

    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 1.103
    Latest signed off version: v1.36 (5 Aug 2021)

    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 1.240
    Latest signed off version: v1.137 (5 Aug 2021)

    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 1.127

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spastic paraplegia 35, autosomal recessive, 612319