MAPRE2

microtubule associated protein RP/EB family member 2
OMIM: 605789, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green MAPRE2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.181
Latest signed off version: v6.0 (30 Apr 2025)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Symmetric circumferential skin creases, congenital, 2, 616734
Green MAPRE2 in DDG2P


Version 6.447
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Circumferential Skin Creases Kunze Type
    Green MAPRE2 in Clefting


    Level 2: Musculoskeletal
    Version 6.23
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Symmetric circumferential skin creases, congenital, 2, 616734
    Green MAPRE2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.345
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Symmetric circumferential skin creases, congenital, 2, 616734
    Green MAPRE2 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.40
    Latest signed off version: v4.0 (7 Aug 2024)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Symmetric circumferential skin creases, congenital, 2, 616734