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  2. Osteogenesis Imperfecta and Osteoporosis
  3. CCDC134
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Osteogenesis Imperfecta and Osteoporosis

Gene: CCDC134

Green List (high evidence)
CCDC134 (coiled-coil domain containing 134)
EnsemblGeneIds (GRCh38): ENSG00000100147
EnsemblGeneIds (GRCh37): ENSG00000100147
CCDC134 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families reported.
Sources: Expert list
Created: 17 Mar 2022, 9:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type XXII, MIM#619795

Publications

Created: 17 Mar 2022, 9:12 a.m.

Panel version: 0.72

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Osteogenesis imperfecta, type XXII, MIM#619795
Clinvar variants
Variants in CCDC134
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ccdc134 has been classified as Green List (High Evidence).

17 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CCDC134 were changed from to Osteogenesis imperfecta, type XXII, MIM#619795

17 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ccdc134 has been classified as Green List (High Evidence).

17 Mar 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CCDC134 was added gene: CCDC134 was added to Osteogenesis Imperfecta. Sources: Expert list Mode of inheritance for gene: CCDC134 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC134 were set to 32181939; 34204301; 35019224 Review for gene: CCDC134 was set to GREEN