1. Genes and Genomic Entities
  2. PPFIBP1

PPFIBP1

PPFIA binding protein 1
OMIM: 603141, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green PPFIBP1 in White matter disorders and cerebral calcification - childhood onset


Level 2: Neurology
Version 8.7
Latest signed off version: v8.6 (12 Aug 2026)

Component of the following Super Panels:

  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
    Green PPFIBP1 in Severe microcephaly


    Level 2: Neurology
    Version 9.26
    Latest signed off version: v9.13 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
    Green PPFIBP1 in Hereditary spastic paraplegia, childhood onset


    Level 2: Neurology
    Version 9.11
    Latest signed off version: v9.7 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
    Green PPFIBP1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
    Green PPFIBP1 in DDG2P


    Version 8.2
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PPFIBP1-related neurodevelopmental disorder
    Green PPFIBP1 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.76
    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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
    Green PPFIBP1 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.28
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024