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 - childhood onset


Level 2: Neurology
Version 9.23
Latest signed off version: v9.22 (12 Aug 2026)

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 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    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 9.57
    Latest signed off version: v9.56 (12 Aug 2026)

    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 11.1
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • 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, adult onset


    Level 2: Neurology
    Version 9.5
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  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 Dystonia, chorea or related movement disorder, childhood onset


    Level 2: Neurology
    Version 8.14
    Latest signed off version: v8.13 (12 Aug 2026)

    		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