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  3. CDCA7
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Chromosome Breakage Disorders

Gene: CDCA7

Green List (high evidence)
CDCA7 (cell division cycle associated 7)
EnsemblGeneIds (GRCh38): ENSG00000144354
EnsemblGeneIds (GRCh37): ENSG00000144354
OMIM: 609937, Gene2Phenotype
CDCA7 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Immunodeficiency-centromeric instability-facial anomalies syndrome-3 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development.

At least 4 unrelated families reported.
Sources: Expert Review
Created: 23 Apr 2021, 10:10 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910

Publications

Created: 23 Apr 2021, 10:10 p.m.

Panel version: 0.164

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910
  • MONDO:0014828
OMIM
609937
Clinvar variants
Variants in CDCA7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdca7 has been classified as Green List (High Evidence).

23 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CDCA7 were changed from Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910 to Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910; MONDO:0014828

23 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdca7 has been classified as Green List (High Evidence).

23 Apr 2021, Gel status: 1

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 Chromosome Breakage Disorders. Sources: Expert Review 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