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  3. CDC6
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Microcephaly

Gene: CDC6

Red List (low evidence)
CDC6 (cell division cycle 6)
EnsemblGeneIds (GRCh38): ENSG00000094804
EnsemblGeneIds (GRCh37): ENSG00000094804
OMIM: 602627, Gene2Phenotype
CDC6 is in 6 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 21358632;
- 1x proband with OFC -3.3SD
- homozygous for a missense

*no new reports since
Sources: Literature
Created: 2 Sep 2020, 12:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meier-Gorlin syndrome 5 (MIM#613805)

Publications

Created: 2 Sep 2020, 12:50 a.m.

Panel version: 0.273

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Meier-Gorlin syndrome 5 (MIM#613805)
OMIM
602627
Clinvar variants
Variants in CDC6
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

2 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: cdc6 has been classified as Red List (Low Evidence).

2 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: cdc6 has been classified as Red List (Low Evidence).

2 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: cdc6 has been classified as Red List (Low Evidence).

2 Sep 2020, Gel status: 0

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: CDC6 was added gene: CDC6 was added to Microcephaly. Sources: Literature Mode of inheritance for gene: CDC6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDC6 were set to 21358632 Phenotypes for gene: CDC6 were set to Meier-Gorlin syndrome 5 (MIM#613805) Penetrance for gene: CDC6 were set to unknown Review for gene: CDC6 was set to RED