CLCN7

chloride voltage-gated channel 7
OMIM: 602727, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green CLCN7 in COVID-19 research Level 2: Viral research Version 1.141	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green IUIS Classification December 2019 IUIS Classification February 2018 IUIS Classification December 2019 IUIS Classification February 2018 Phenotypes Defects in Intrinsic and Innate Immunity Osteopetrosis with hypocalcemia, neurologic features
Amber CLCN7 in Lysosomal storage disorder Version 3.3 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541 Tags watchlist
Amber CLCN7 in Albinism or congenital nystagmus Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541 Tags watchlist
Red CLCN7 in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.201 Latest signed off version: v4.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources IUIS Classification December 2019 Expert Review Red IUIS Classification February 2018 Phenotypes Osteopetrosis, autosomal recessive 4, OMIM:611490 Osteopetrosis, autosomal dominant 2, OMIM:166600
Green CLCN7 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.56 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Osteopetrosis, autosomal recessive 4, OMIM:611490 Osteopetrosis, autosomal dominant 2, OMIM:166600
Amber CLCN7 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Expert Review Amber Phenotypes Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541 Tags watchlist
Green CLCN7 in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS PAGE DD-Gene2Phenotype Expert Review Green 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 CLCN7 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CLCN7-RELATED OSTEOPETROSIS 611490
Red CLCN7 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.531 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Osteopetrosis, autosomal recessive 4, OMIM:611490 Osteopetrosis, autosomal dominant 2, OMIM:166600
Green CLCN7 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Osteopetrosis, autosomal dominant 2, 166600 Hypopigmentation, organomegaly, and delayed myelination and development, 618541 Osteopetrosis, autosomal recessive 4, 611490
Green CLCN7 in Osteopetrosis Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.34 Latest signed off version: v1.1 (21 Sep 2020)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Osteopetrosis, autosomal recessive 4, OMIM:611490 Osteopetrosis, autosomal dominant 2, OMIM:166600