CLCN5

chloride voltage-gated channel 5
OMIM: 300008, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Amber CLCN5 in Hypophosphataemia or rickets Level 2: Endocrinology Version 4.2 Latest signed off version: v4.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Emory Genetics Laboratory Expert list Phenotypes Hypophosphatemic rickets (300554)
Green CLCN5 in Nephrocalcinosis or nephrolithiasis Level 2: Renal Version 5.5 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Dent Disease Dent disease, 300009 Nephrolithiasis, type I, 310468Hypophosphatemic rickets, 300554 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 Nephrocalcinosis with low molecular weight proteinuria and pregressive CKD
Green CLCN5 in Cystic kidney disease Level 2: Renal Version 8.5 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Cystic renal disease Unexplained young onset end-stage renal disease	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Literature Phenotypes Dent disease 1, OMIM:300009 Hypophosphatemic rickets, OMIM:300554 Nephrolithiasis, type I, OMIM:310468 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, OMIM:308990
Green CLCN5 in Unexplained kidney failure in young people Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 1.124	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Phenotypes Dent disease, 300009 Nephrolithiasis, type I, 310468 Hypophosphatemic rickets, 300554 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990
Green CLCN5 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.33 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS Expert Review Green Emory Genetics Laboratory Phenotypes Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990 Dent disease 300009 Nephrolithiasis, type I 310468 Hypophosphatemic rickets 300554
Red CLCN5 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS Expert Review Red Literature Phenotypes Dent disease 1, OMIM:300009 Hypophosphatemic rickets, OMIM:300554 Nephrolithiasis, type I, OMIM:310468 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, OMIM:308990
Red CLCN5 in Osteogenesis imperfecta Level 2: Musculoskeletal Version 5.4 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Osteogenesis Imperfecta and Decreased Bone Density skeletal dysplasias
Green CLCN5 in Renal tubulopathies Level 2: Renal Version 5.11 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Phenotypes Dent disease 1, OMIM:300009
Red CLCN5 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Phenotypes Dent disease
Green CLCN5 in Proteinuric renal disease Level 2: Renal Version 5.7 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Dent disease, 300009 Nephrolithiasis, type I, 310468 Hypophosphatemic rickets, 300554 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990