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Severe Paediatric Disorders

Gene: CLCN7

Green List (high evidence)

CLCN7 (chloride voltage-gated channel 7)
EnsemblGeneIds (GRCh38): ENSG00000103249
EnsemblGeneIds (GRCh37): ENSG00000103249
OMIM: 602727, Gene2Phenotype
CLCN7 is in 10 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CLCN7; Recommended initial gene rating: Green List (high evidence); Phenotypes: Hypopigmentation, organomegaly, and delayed myelination and development, 618541 (3) | Osteopetrosis, autosomal dominant 2, 166600 (3) | Osteopetrosis, autosomal recessive 4, 611490 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal recessive
Created: 20 Feb 2020, 5:17 p.m. | Last Modified: 20 Feb 2020, 5:17 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
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
OMIM
602727
Clinvar variants
Variants in CLCN7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene CLCN7 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene CLCN7 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Osteopetrosis, autosomal recessive 4, 611490; Hypopigmentation, organomegaly, and delayed myelination and development, 618541; Osteopetrosis, autosomal dominant 2, 166600 for gene: CLCN7

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Osteopetrosis, autosomal recessive 4, 611490; Hypopigmentation, organomegaly, and delayed myelination and development, 618541; Osteopetrosis, autosomal dominant 2, 166600 for gene: CLCN7

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Osteopetrosis, autosomal recessive 4, 611490; Hypopigmentation, organomegaly, and delayed myelination and development, 618541; Osteopetrosis, autosomal dominant 2, 166600 for gene: CLCN7

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Osteopetrosis, autosomal recessive 4, 611490; Hypopigmentation, organomegaly, and delayed myelination and development, 618541; Osteopetrosis, autosomal dominant 2, 166600 for gene: CLCN7

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to CLCN7.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to CLCN7. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CLCN7 was added gene: CLCN7 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: CLCN7 was set to