TRA2B

transformer 2 beta homolog
OMIM: 602719, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber TRA2B in Severe microcephaly


Level 2: Neurology
Version 9.58
Latest signed off version: v9.13 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Ramond-Elliott neurodevelopmental syndrome, OMIM:621421
Amber TRA2B in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.31
Latest signed off version: v8.0 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Ramond-Elliott neurodevelopmental syndrome, MONDO:0980751
  • Ramond-Elliott neurodevelopmental syndrome, OMIM:621421
Tags
  • Q3_26_promote_green
Green TRA2B in DDG2P


Version 8.2
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
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • TRA2B-associated neurodevelopmental syndrome
    Green TRA2B in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.94
    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, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Ramond-Elliott neurodevelopmental syndrome, OMIM:621421
    Green TRA2B in Intellectual disability


    Level 2: Developmental disorders
    Version 11.72
    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, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Ramond-Elliott neurodevelopmental syndrome, OMIM:621421