Genomics England
GMS Panels
Panels
Genes and Entities

CAPN15

calpain 15
OMIM: 603267
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OMIM:619318.0, MONDO:0036189, CAPN15-related oculogastrointestinal neurodevelopmental syndrome
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318
Green
in Structural eye disease
R-numbers: R36
Signed-off version 5.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318, Microphthalmia, HP:0000568, Coloboma, HP:0000589