NFIA

nuclear factor I A
OMIM: 600727, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green NFIA in Malformations of cortical development


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

Component of the following Super Panels:

  • Cerebral malformation
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Brain malformations with or without urinary tract defects, OMIM:613735
    Green NFIA in Fetal anomalies


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

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Brain malformations with or without urinary tract defects, OMIM:613735
    Green NFIA in Rare syndromic craniosynostosis or isolated multisuture synostosis


    Level 2: Musculoskeletal
    Version 7.1
    Latest signed off version: v7.0 (12 Aug 2026)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Metopic synostosis, hydrocephalus, thin corpus callosum, mild developmental delay, autism, macrocephaly
    Green NFIA 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
    • Macrocephaly with intellectual disability
    Green NFIA in Intellectual disability


    Level 2: Developmental disorders
    Version 11.26
    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
    • Expert Review Green
    Phenotypes
    • Brain malformations with or without urinary tract defects, 613735
    • BRMUTD
    • Intellectual disability
    • Chromosome 1p32-p31 deletion syndrome, included
    Tags
    • deletions