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  2. Fetal anomalies
  3. CITED2
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Fetal anomalies

Gene: CITED2

Amber List (moderate evidence)
CITED2 (Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2)
EnsemblGeneIds (GRCh38): ENSG00000164442
EnsemblGeneIds (GRCh37): ENSG00000164442
OMIM: 602937, Gene2Phenotype
CITED2 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
This review was provided by Alison Male from North Thames GLH: Congenital heart disease. Amber isolated cardiac, only if R21 eligibility criteria change
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Atrial septal defect 8, OMIM:614433; Ventricular septal defect 2, OMIM:614431; Congenital heart disease

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.36

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Atrial septal defect 8, OMIM:614433
  • Ventricular septal defect 2, OMIM:614431
  • Congenital heart disease
OMIM
602937
Clinvar variants
Variants in CITED2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CITED2 was added gene: CITED2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: CITED2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CITED2 were set to 16287139; 29536580; 33706167; 31515672; 11694877; 33439552 Phenotypes for gene: CITED2 were set to Atrial septal defect 8, OMIM:614433; Ventricular septal defect 2, OMIM:614431; Congenital heart disease