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Severe Paediatric Disorders

Gene: CLCN5

Green List (high evidence)

CLCN5 (chloride voltage-gated channel 5)
EnsemblGeneIds (GRCh38): ENSG00000171365
EnsemblGeneIds (GRCh37): ENSG00000171365
OMIM: 300008, Gene2Phenotype
CLCN5 is in 11 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: CLCN5; Recommended initial gene rating: Green List (high evidence); Phenotypes: Dent disease, 300009 (3) | Hypophosphatemic rickets, 300554 (3) | Nephrolithiasis, type I, 310468 (3) | Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 (3); Mode of inheritance: X-linked recessive | X-linked recessive | X-linked recessive | X-linked 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
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Nephrolithiasis, type I, 310468
  • Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990
  • Hypophosphatemic rickets, 300554
  • Dent disease, 300009
OMIM
300008
Clinvar variants
Variants in CLCN5
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 CLCN5 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene CLCN5 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Nephrolithiasis, type I, 310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990; Hypophosphatemic rickets, 300554; Dent disease, 300009 for gene: CLCN5

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Nephrolithiasis, type I, 310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990; Hypophosphatemic rickets, 300554; Dent disease, 300009 for gene: CLCN5

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Nephrolithiasis, type I, 310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990; Hypophosphatemic rickets, 300554; Dent disease, 300009 for gene: CLCN5

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Hypophosphatemic rickets, 300554; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990; Dent disease, 300009; Nephrolithiasis, type I, 310468 for gene: CLCN5

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to CLCN5.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to CLCN5. 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: CLCN5 was added gene: CLCN5 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: CLCN5 was set to