BAIAP2

BAI1 associated protein 2
OMIM: 605475, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red BAIAP2 in Malformations of cortical development


Level 2: Neurology
Version 7.30
Latest signed off version: v7.0 (30 Oct 2024)

Component of the following Super Panels:

  • Cerebral malformation
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Other
    Phenotypes
    • developmental and epileptic encephalopathy, MONDO:0100620
    • classic lissencephaly, MONDO:0015146
    Amber BAIAP2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    Phenotypes
    • Lissencephaly
    Amber BAIAP2 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
    • Expert Review Amber
    • Literature
    Phenotypes
    • developmental and epileptic encephalopathy, MONDO:0100620
    • classic lissencephaly, MONDO:0015146
    Tags
    • Q4_25_promote_green
    • Q4_25_NHS_review
    Amber BAIAP2 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 Amber
    • Other
    Phenotypes
    • developmental and epileptic encephalopathy, MONDO:0100620
    • classic lissencephaly, MONDO:0015146
    Tags
    • Q4_25_promote_green