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Intellectual disability syndromic and non-syndromic

Gene: CDT1

Red List (low evidence)

CDT1 (chromatin licensing and DNA replication factor 1)
EnsemblGeneIds (GRCh38): ENSG00000167513
EnsemblGeneIds (GRCh37): ENSG00000167513
OMIM: 605525, Gene2Phenotype
CDT1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Intellect is typically normal.
Created: 26 Nov 2019, 8:35 p.m. | Last Modified: 26 Nov 2019, 8:35 p.m.
Panel Version: 0.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meier-Gorlin syndrome 4, MIM#613804

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Meier-Gorlin syndrome 4, MIM#613804
OMIM
605525
Clinvar variants
Variants in CDT1
Penetrance
None
Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdt1 has been classified as Red List (Low Evidence).

6 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CDT1 were changed from to Meier-Gorlin syndrome 4, MIM#613804

6 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CDT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

6 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdt1 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: CDT1 was added gene: CDT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CDT1 was set to Unknown