CLCN5

chloride voltage-gated channel 5
OMIM: 300008, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Amber CLCN5 in Hypophosphataemia or rickets Version 3.4 Latest signed off version: v3.0 (30 Nov 2022)	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 3: Disorders of function Level 2: Renal and urinary tract disorders Version 4.13 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	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
No list CLCN5 in Cystic kidney disease Level 3: Structural renal and urinary tract disease Level 2: Renal and urinary tract disorders Version 4.24 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Cystic renal disease Renal superpanel - broad Renal superpanel - narrow	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Literature Phenotypes cystic kdiney disease cortical cysts medullary cysts nephrocalcinosis low molecular weight proteinuria hypercalciuria
Green CLCN5 in Unexplained kidney failure in young people Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 1.119 Component of the following Super Panels: Renal superpanel - broad	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services 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 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.63 Latest signed off version: v4.0 (22 Mar 2023) 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
Green CLCN5 in Unexplained young onset end-stage renal disease Version 3.41 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Nephrolithiasis, type I, 310468 Dent disease, 300009 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 Hypophosphatemic rickets, 300554
Red CLCN5 in Osteogenesis imperfecta Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.5 Latest signed off version: v4.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Osteogenesis Imperfecta and Decreased Bone Density skeletal dysplasias
Red CLCN5 in Renal tubulopathies Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 4.17 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	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 NHS GMS Phenotypes Dent disease, 300009. Hypophosphatemic rickets, 300554. Nephrolithiasis, type I, 310468. Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990
Red CLCN5 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 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 Phenotypes Dent disease
Green CLCN5 in Proteinuric renal disease Level 3: Syndromes with prominent renal abnormalities Level 2: Renal and urinary tract disorders Version 4.12 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	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
Green CLCN5 in Groopman et al 2019 - Genes with diagnostic variants Version 0.8	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 Expert review green Literature Phenotypes Tubulointerstitial disease Dent disease Nephropathy of unknown origin Glomerulopathy MIM 300009
Green CLCN5 in Severe Paediatric Disorders Version 1.184	review	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