CAPN15

calpain 15
OMIM: 603267, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green CAPN15 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.39

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

Green CAPN15 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318
  • microphthalmia HP:0000568
  • coloboma HP:0000589

Green CAPN15 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318

Green CAPN15 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318
  • microphthalmia HP:0000568
  • coloboma HP:0000589