1. Genes and Genomic Entities
  2. FIG4

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 1.24

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Yunis Varon syndrome OMIM:216340
  • Yunis-Varon syndrome MONDO:0008995
Green FIG4 in White matter disorders and cerebral calcification - narrow panel


Version 3.35
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Charcot-Marie-Tooth disease, type 4J, OMIM:611228
    • Yunis-Varon syndrome, OMIM:216340
    • leukoencephalopathy, HP:0002352
    Green FIG4 in Limb disorders


    Version 4.19
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Yunis Varon syndrome OMIM:216340
    • Yunis-Varon syndrome MONDO:0008995
    Amber FIG4 in Malformations of cortical development

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.26
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Cerebral malformation

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • ?Polymicrogyria, bilateral temporooccipital OMIM:612691
    • bilateral parasagittal parieto-occipital polymicrogyria MONDO:0012986
    Green FIG4 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.57
    Latest signed off version: v4.0 (22 Mar 2023)

    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
    • Charcot-Marie-Tooth disease, type 4J, OMIM:611228
    • Charcot-Marie-Tooth disease type 4J MONDO:0012640
    • Yunis Varon syndrome OMIM:216340
    • Yunis-Varon syndrome MONDO:0008995
    Red FIG4 in Adult onset neurodegenerative disorder


    Version 4.47
    Latest signed off version: v4.34 (31 Jul 2023)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Amyotrophic lateral sclerosis 11 OMIM:612577
    • amyotrophic lateral sclerosis type 11 MONDO:0012945
    • Charcot-Marie-Tooth disease, type 4J, OMIM:611228
    • Charcot-Marie-Tooth disease type 4J MONDO:0012640
    Green FIG4 in Fetal anomalies


    Version 3.157
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Yunis-Varon syndrome, OMIM:216340
    • Yunis-Varon syndrome, MONDO:0008995
    • Charcot-Marie-Tooth disease, type 4J, OMIM:611228
    • Charcot-Marie-Tooth disease type 4J, MONDO:0012640
    • ?Polymicrogyria, bilateral temporooccipital, OMIM:612691
    • Bilateral parasagittal parieto-occipital polymicrogyria, MONDO:0012986
    Green FIG4 in Amyotrophic lateral sclerosis/motor neuron disease

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.69

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Amyotrophic lateral sclerosis 11 OMIM:612577
    • amyotrophic lateral sclerosis type 11 MONDO:0012945
    • Charcot-Marie-Tooth disease, type 4J, OMIM:611228
    • Charcot-Marie-Tooth disease type 4J MONDO:0012640
    • Yunis Varon syndrome OMIM:216340
    • Yunis-Varon syndrome MONDO:0008995
    Green FIG4 in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    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 1.477

    		review BOTH monoallelic and 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 Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.195
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review Not set
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Green FIG4 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.536
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Charcot-Marie-Tooth disease, type 4J, OMIM:611228
    • Charcot-Marie-Tooth disease type 4J MONDO:0012640
    • Yunis Varon syndrome OMIM:216340
    • Yunis-Varon syndrome MONDO:0008995
    Green FIG4 in Hereditary neuropathy or pain disorder


    Version 3.94
    Latest signed off version: v3.24 (15 May 2023)

    		review BOTH monoallelic and 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
    • Amyotrophic lateral sclerosis 11 OMIM:612577
    • amyotrophic lateral sclerosis type 11 MONDO:0012945
    • Charcot-Marie-Tooth disease, type 4J, OMIM:611228
    • Charcot-Marie-Tooth disease type 4J MONDO:0012640
    • Yunis Varon syndrome OMIM:216340
    • Yunis-Varon syndrome MONDO:0008995
    Green FIG4 in Severe Paediatric Disorders


    Version 1.184

    		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