CAPN15

calpain 15
OMIM: 603267, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red CAPN15 in Bilateral congenital or childhood onset cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.12
Latest signed off version: v4.0 (22 Mar 2023)

review Not set
Sources
  • Expert Review Red
  • UKGTN
Tags
  • watchlist
Green CAPN15 in Anophthalmia or microphthalmia

Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.51

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318
  • Microphthalmia, HP:0000568
  • Coloboma, HP:0000589
Green CAPN15 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318
    Green CAPN15 in Structural eye disease


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318
    • Microphthalmia, HP:0000568
    • Coloboma, HP:0000589