Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 500+

Gene: CLCN7

Green List (high evidence)

CLCN7 (chloride voltage-gated channel 7)
EnsemblGeneIds (GRCh38): ENSG00000103249
EnsemblGeneIds (GRCh37): ENSG00000103249
OMIM: 602727, Gene2Phenotype
CLCN7 is in 15 panels

1 review

Cassandra Muller (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-phenotype association. Severe, early onset (typically in infancy) condition.
Created: 28 Aug 2024, 3:51 a.m. | Last Modified: 28 Aug 2024, 3:51 a.m.
Panel Version: 1.236

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteopetrosis, autosomal recessive 4, 611490 (3)

Publications

History Filter Activity

30 Apr 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: clcn7 has been classified as Green List (High Evidence).

30 Apr 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CLCN7 were changed from Osteopetrosis, autosomal recessive 4, 611490 (3) to Osteopetrosis, autosomal recessive 4, MIM#611490

30 Apr 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CLCN7 were set to

3 Nov 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

gene: CLCN7 was added gene: CLCN7 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLCN7 were set to Osteopetrosis, autosomal recessive 4, 611490 (3)