CLCN5

chloride voltage-gated channel 5
OMIM: 300008, ClinGen, DECIPHER

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Red CLCN5 in Haematuria_Alport Level 2: Renal and urinary tract disorders Version 1.1 Component of the following Super Panels: Kidneyome_SuperPanel Renal Glomerular Disease_SuperPanel	1 review	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services
Green CLCN5 in Mendeliome Version 1.2302	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dent disease, MIM#300009 Hypophosphatemic rickets, MIM#300554 Nephrolithiasis, type I, MIM#310468 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990
Green CLCN5 in Proteinuria Level 2: Renal and urinary tract disorders Version 0.229 Component of the following Super Panels: Kidneyome_SuperPanel Renal Glomerular Disease_SuperPanel	1 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 list Phenotypes Dent disease, MIM#300009 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990
Green CLCN5 in Calcium and Phosphate disorders Level 2: Renal and urinary tract disorders; Endocrine disorders Version 1.24	3 reviews	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 list Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypophosphatemic rickets, MIM# 300554 Hypophosphatemic rickets, MIM# 300554
Green CLCN5 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.302	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green NHS GMS Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes Nephrolithiasis, type I 310468 Dent disease 300009 Hypophosphatemic rickets 300554 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990
Green CLCN5 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Dent disease, 300009 (3)
Green CLCN5 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Dent disease
Green CLCN5 in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Dent disease, MIM#300009
Red CLCN5 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category A gene Phenotypes Dent disease, MIM#300009
Green CLCN5 in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 1.17 Component of the following Super Panels: Kidneyome_SuperPanel	4 reviews	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 Victorian Clinical Genetics Services Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Dent disease, MIM#300009 Nephrolithiasis, type I, MIM#310468 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990 Hypophosphatemic rickets, MIM#300554
Green CLCN5 in Prepair 500+ Level 2: Screening Version 1.5	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Dent disease, 300009 (3)