Combined Immunodeficiency
Gene: CDCA7EnsemblGeneIds (GRCh38): ENSG00000144354
EnsemblGeneIds (GRCh37): ENSG00000144354
OMIM: 609937, Gene2Phenotype
CDCA7 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Five patients from four unrelated families; presents with recurrent infections in childhood, dysmorphic features and ID variable.
Sources: Expert listCreated: 8 Jan 2020, 9:17 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910
- OMIM
- 609937
- Clinvar variants
- Variants in CDCA7
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cdca7 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cdca7 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CDCA7 was added gene: CDCA7 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: CDCA7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDCA7 were set to 26216346 Phenotypes for gene: CDCA7 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910 Review for gene: CDCA7 was set to GREEN