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Fetal anomalies

Gene: CD151

Red List (low evidence)
CD151 (CD151 molecule (Raph blood group))
EnsemblGeneIds (GRCh38): ENSG00000177697
EnsemblGeneIds (GRCh37): ENSG00000177697
OMIM: 602243, Gene2Phenotype
CD151 is in 7 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Red List (low evidence)

Oesophageal strictures & nephropathy progressive therefore would probably not present prenatally.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epidermolysis bullosa simplex 7, with nephropathy and deafness, MIM#609057

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS
Created: 11 Dec 2018, 9:04 a.m.
Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Epidermolysis bullosa simplex 7, with nephropathy and deafness, OMIM:609057
OMIM
602243
Clinvar variants
Variants in CD151
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: CD151 were changed from Epidermolysis bullosa simplex 7, with nephropathy and deafness, OMIM:609057; NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS to Epidermolysis bullosa simplex 7, with nephropathy and deafness, OMIM:609057

20 Feb 2025, Gel status: 1

Added New Source, Added New Source, Set Phenotypes, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to CD151. Source Expert Review Red was added to CD151. Added phenotypes Epidermolysis bullosa simplex 7, with nephropathy and deafness, OMIM:609057 for gene: CD151 Publications for gene: CD151 were updated from to 35519797; 20301543 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: CD151 was added gene: CD151 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CD151 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CD151 were set to NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS