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Osteogenesis imperfecta

Gene: CLCN5

Red List (low evidence)

CLCN5 (chloride voltage-gated channel 5)
EnsemblGeneIds (GRCh38): ENSG00000171365
EnsemblGeneIds (GRCh37): ENSG00000171365
OMIM: 300008, Gene2Phenotype
CLCN5 is in 11 panels

3 reviews

Christine Burren (University Hospitals Bristol NHS Foundation Trust)

Red List (low evidence)

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Red List (low evidence)

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Red List (low evidence)

History Filter Activity

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been classified as Red List (Low Evidence).

23 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CLCN5 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory