MAB21L1

mab-21 like 1
OMIM: 601280, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green MAB21L1 in Fetal anomalies


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cerebellar, ocular, craniofacial, and genital syndrome OMIM:618479
Green MAB21L1 in DDG2P


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

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Cerebello-Oculo-Facio-Genital syndrome
    Green MAB21L1 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Global developmental delay
    • Intellectual disability
    • Cerebellar hypoplasia
    • Abnormality of the eye
    • Abnormality of the genital system
    • No OMIM number