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Intellectual disability syndromic and non-syndromic

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
Created: 2 Sep 2020, 6:10 a.m. | Last Modified: 2 Sep 2020, 6:10 a.m.
Panel Version: 0.2921

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meier-Gorlin syndrome 5 (MIM#613805)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Meier-Gorlin syndrome 5 (MIM#613805)
OMIM
602627
Clinvar variants
Variants in CDC6
Penetrance
None
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

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: CDC6 were changed from to Meier-Gorlin syndrome 5 (MIM#613805)

2 Sep 2020, Gel status: 1

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: CDC6 were set to

2 Sep 2020, Gel status: 1

Set mode of inheritance

Seb Lunke (Victorian Clinical Genetics Services)

Mode of inheritance for gene: CDC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

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).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CDC6 was added gene: CDC6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CDC6 was set to Unknown