Haematuria_Alport
Gene: CLCN5
CLCN5 (chloride voltage-gated channel 5)
EnsemblGeneIds (GRCh38): ENSG00000171365
EnsemblGeneIds (GRCh37): ENSG00000171365
OMIM: 300008, Gene2Phenotype
CLCN5 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000171365
EnsemblGeneIds (GRCh37): ENSG00000171365
OMIM: 300008, Gene2Phenotype
CLCN5 is in 11 panels
1 review
Chirag Patel (Genetic Health Queensland)
This causes Dent disease (tubular disease) rather than haematuria.Created: 3 Jan 2020, 4:59 a.m. | Last Modified: 3 Jan 2020, 4:59 a.m.
Panel Version: 0.14
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- OMIM
- 300008
- Clinvar variants
- Variants in CLCN5
- Penetrance
- None
- Panels with this gene
History Filter Activity
3 Jan 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: clcn5 has been classified as Red List (Low Evidence).
3 Jan 2020, Gel status: 1
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: clcn5 has been classified as Red List (Low Evidence).
3 Jan 2020, Gel status: 1
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: clcn5 has been classified as Red List (Low Evidence).
3 Jan 2020, Gel status: 1
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: clcn5 has been classified as Red List (Low Evidence).
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CLCN5 was added gene: CLCN5 was added to Alport syndrome extended_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CLCN5 was set to Unknown