RAB11A

RAB11A, member RAS oncogene family
OMIM: 605570, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green RAB11A 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, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • microcephaly, HP:0000252
  • brain anomalies
  • Intellectual disability, HP:0001249
Tags
  • gene-checked
Green RAB11A in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Epilepsy and intellectual disability
    Tags
    • gene-checked
    Amber RAB11A 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
    • Global developmental delay, HP:0001263
    • Intellectual disability, HP:0001249
    • seizures
    Tags
    • gene-checked
    Green RAB11A 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 Green
    • NHS GMS
    • Expert Review
    • Expert Review
    • Literature
    Phenotypes
    • Global developmental delay, HP:0001263
    • Intellectual disability, HP:0001249
    Tags
    • gene-checked