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  3. CITED2
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Paediatric disorders - additional genes

Gene: CITED2

Red List (low 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

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

This gene was submitted by Rebecca Whittington on behalf of the South West GLH, for inclusion on the Paediatric disorders panel (https://panelapp.genomicsengland.co.uk/panels/486/)
Created: 26 Nov 2019, 2:38 p.m. | Last Modified: 26 Nov 2019, 2:38 p.m.
Panel Version: 0.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Atrial septal defect 8; Ventricular septal defect 2

Created: 26 Nov 2019, 2:38 p.m.
Last Modified: 26 Nov 2019, 2:38 p.m.
Panel version: 0.35

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • South West GLH
Phenotypes
  • Atrial septal defect 8
  • Ventricular septal defect 2
OMIM
602937
Clinvar variants
Variants in CITED2
Penetrance
None
Panels with this gene

History Filter Activity

26 Nov 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: CITED2 was added gene: CITED2 was added to Paediatric disorders - additional genes. Sources: South West GLH Mode of inheritance for gene: CITED2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CITED2 were set to Atrial septal defect 8; Ventricular septal defect 2