1. Genes and Genomic Entities
  2. IRF2BPL

IRF2BPL

interferon regulatory factor 2 binding protein like
OMIM: 611720, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green IRF2BPL 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088
    • neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759
    Green IRF2BPL in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Neurological Phenotypes
    Green IRF2BPL in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088
    • neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759
    Green IRF2BPL in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088
    • neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759
    Green IRF2BPL in Hereditary ataxia with onset in adulthood


    Level 2: Neurology
    Version 8.23
    Latest signed off version: v8.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088
    • neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759
    Green IRF2BPL 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088
    • neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759