Complement Deficiencies
Gene: C1R

C1R (complement C1r)
EnsemblGeneIds (GRCh38): ENSG00000159403
EnsemblGeneIds (GRCh37): ENSG00000159403
OMIM: 613785, Gene2Phenotype
C1R is in 5 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 27745832; total of 15 families with mostly missense reported and 2 delins

PMID: 28306229; One of the 19 EDS genes recognised by the International EDS Consortium
Created: 15 Mar 2022, 2:11 a.m. | Last Modified: 15 Mar 2022, 2:11 a.m.

Panel Version: 0.11382

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ehlers-Danlos syndrome, periodontal type, 1 MIM# 130080

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 15 Mar 2022, 2:11 a.m.
Last Modified: 15 Mar 2022, 2:11 a.m.
Panel version: Imported from Mendeliome panel version 0.11382

Details

Mode of Inheritance

Unknown

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services
Expert Review Green

OMIM

613785

Clinvar variants

Variants in C1R

Penetrance

None

Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: C1R was added gene: C1R was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: C1R was set to Unknown

Complement Deficiencies Gene: C1R