1. Genes and Genomic Entities
  2. CAPN15

CAPN15

calpain 15
OMIM: 603267, Gene2Phenotype

6 panels

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


Level 2: Ophthalmology
Version 7.6
Latest signed off version: v7.0 (30 Apr 2025)

review Not set
Sources
  • Expert Review Red
  • UKGTN
Tags
  • watchlist
Amber CAPN15 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.138
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318
  • microphthalmia HP:0000568
  • coloboma HP:0000589
Green CAPN15 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
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • OMIM:619318.0
    • MONDO:0036189
    • CAPN15-related oculogastrointestinal neurodevelopmental syndrome
    Green CAPN15 in Anophthalmia or microphthalmia

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.56

    		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


    Level 2: Developmental disorders
    Version 9.279
    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
    • Literature
    Phenotypes
    • Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318
    Green CAPN15 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

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