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  2. Familial non syndromic congenital heart disease
  3. CITED2
STRs in panel
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Familial non syndromic congenital heart disease

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

2 reviews

Richard Scott (Genomics England Curator)

Comment on list classification: Insufficient evidence to date
Created: 18 Jan 2017, 10:54 a.m.
Created: 18 Jan 2017, 10:54 a.m.

Panel version: 0.40

Alice Gardham (Genomics England)

Red List (low evidence)

Comment on list classification: Reasonable number of case reports. A few labs in Europe offer diagnostic testing.
Created: 30 Nov 2016, 4:15 p.m.
Not recognised in G2P. Possible mutations reported in at least 14 individuals -mostly ASD and VSD although one two TOF patients. Mouse model has cardiac defects.
Created: 30 Nov 2016, 11:19 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Atrial septal defect, 8 614433, Ventricular septal defect 2, 614431

Publications

Created: 30 Nov 2016, 11:19 a.m.

Panel version: 0.19

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Atrial septal defect, 8 614433, Ventricular septal defect 2, 614431
OMIM
602937
Clinvar variants
Variants in CITED2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Jan 2017, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January

18 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

30 Nov 2016, Gel status: 2

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Amber List (Moderate Evidence).

30 Nov 2016, Gel status: 1

Added New Source

Alice Gardham (Genomics England)

CITED2 was added to Familial non syndromic congenital heart diseasepanel. Sources: Literature,Radboud University Medical Center, Nijmegen

30 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

CITED2 was created by agardham