FIG4

FIG4 phosphoinositide 5-phosphatase
OMIM: 609390, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green FIG4 in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.13

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Yunis-Varon syndrome, 216340
  • Aplastic/hypoplastic thumbs
  • absent thumbs

No list FIG4 in White matter disorders and cerebral calcification - narrow panel


Version 1.32
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 list
    Phenotypes
    • Charcot-Marie-Tooth disease, type 4J 611228
    • Yunis-Varon syndrome 216340
    • leukoencephalopathy

    Green FIG4 in Limb disorders


    Version 2.32
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Aplastic/hypoplastic thumbs
    • Yunis-Varon syndrome, 216340
    • absent thumbs

    No list FIG4 in Malformations of cortical development

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.42
    Signed off v.2.2 on 25 Feb 2020

    Component of the following Super Panels:

  • Cerebral malformations
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    Phenotypes
    • Polymicrogyria with epilepsy MIM# 612691

    Green FIG4 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.76
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Yunis-Varon syndrome 216340
    • Amyotrophic lateral sclerosis 11 612577
    • Yunis-Varon syndrome 216340

    Green FIG4 in Neurodegenerative disorders - adult onset


    Version 2.38
    Signed off v.2.31 on 8 Oct 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Charcot-Marie-Tooth disease, type 4J, 611228
    • Amyotrophic Lateral Sclerosis, Dominant

    Amber FIG4 in Fetal anomalies


    Version 1.185
    Signed off v.1.92 on 21 Aug 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA YUNIS-VARON SYNDROME
    • CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J

    Green FIG4 in Amyotrophic lateral sclerosis/motor neuron disease

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.29

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Amyotrophic Lateral Sclerosis, Dominant
    • Charcot-Marie-Tooth disease, type 4J, 611228

    Amber FIG4 in DDG2P


    Version 2.18
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 611228
    • CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA YUNIS-VARON SYNDROME 216340

    Green FIG4 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.383

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Emory Genetics Laboratory
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Yunis Varon syndrome, 216340
    • Yunis Varon syndrome, 216340
    • Amyotrophic lateral sclerosis 11, 612577
    • Charcot Marie Tooth disease, type 4J, 611228
    • Amyotrophic lateral sclerosis 11, 612577

    Red FIG4 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.274
    Signed off v.2.2 on 13 Feb 2020

    review Not set
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Red
    • Victorian Clinical Genetics Services

    Green FIG4 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.740
    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
    Phenotypes
    • CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J

    Green FIG4 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.21
    Signed off v.1.2 on 27 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Radboud University Medical Center, Nijmegen
    • South West GLH
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Expert list
    • London North GLH
    • Illumina TruGenome Clinical Sequencing Services
    • NHS GMS
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Charcot Marie Tooth disease, type 4J, 611228
    • Amyotrophic lateral sclerosis 11, 612577
    • Yunis Varon syndrome, 216340

    Green FIG4 in Severe Paediatric Disorders


    Version 1.43

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Charcot-Marie-Tooth disease, type 4J, 611228
    • Yunis-Varon syndrome, 216340
    • ?Polymicrogyria, bilateral temporooccipital, 612691
    • Amyotrophic lateral sclerosis 11, 612577