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  3. CD247
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SCID

Gene: CD247

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

4 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Red List (low evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Sophie Hambleton (Newcastle University)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Peter Arkwright (Royal Manchester Foundation Trust)

Red List (low evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Remain as red.
Created: 20 May 2016, 2:14 p.m.
Created: 20 May 2016, 2:14 p.m.

Panel version: 0.31

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • T-B+ SCID
OMIM
186780
Clinvar variants
Variants in CD247
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

20 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

20 May 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CD247 were set to 16672702

20 May 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CD247 was changed to BIALLELIC, autosomal or pseudoautosomal

20 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

15 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CD247 was added to SCIDpanel. Sources: Emory Genetics Laboratory