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Newborns main panel

Gene: CD247

Green List (high evidence)
CD247 (CD247 molecule)
EnsemblGeneIds (GRCh38): ENSG00000198821
EnsemblGeneIds (GRCh37): ENSG00000198821
OMIM: 186780, Gene2Phenotype
CD247 is in 2 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
CD247 curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Immunodeficiency 25, severe combined
OMIM
186780
Clinvar variants
Variants in CD247
Penetrance
None
Panels with this gene

History Filter Activity

6 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CD247 were changed from Immunodeficiency 25 to Immunodeficiency 25, severe combined

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency 25 for gene: CD247

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to CD247. Added phenotypes Immunodeficiency 25 for gene: CD247 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to CD247. Added phenotypes Immunodeficiency 25 for gene: CD247 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to CD247. Added phenotypes Immunodeficiency 25 for gene: CD247 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to CD247. Added phenotypes Immunodeficiency 25 for gene: CD247 Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency 25 for gene: CD247

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: CD247 was added gene: CD247 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: CD247 was set to BIALLELIC, autosomal or pseudoautosomal