Genomics England
GMS Panels
Panels
Genes and Entities

CLCN7

chloride voltage-gated channel 7
OMIM: 602727
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CLCN7-RELATED OSTEOPETROSIS 611490
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
CLCN7-RELATED OSTEOPETROSIS, Osteopetrosis, autosomal recessive 4, OMIM:611490, Osteopetrosis, autosomal dominant 2, OMIM:166600, Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541
Green
in Osteopetrosis
R-numbers: R104.4
Signed-off version 1.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Osteopetrosis, autosomal recessive 4 611490, Osteopetrosis, autosomal dominant 2 166600
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Osteopetrosis, autosomal recessive 4, OMIM:611490, Osteopetrosis, autosomal dominant 2, OMIM:166600