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Newborns main panel

Gene: CORO1A

Green List (high evidence)
CORO1A (coronin 1A)
EnsemblGeneIds (GRCh38): ENSG00000102879
EnsemblGeneIds (GRCh37): ENSG00000102879
OMIM: 605000, Gene2Phenotype
CORO1A is in 3 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
CORO1A 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 8
OMIM
605000
Clinvar variants
Variants in CORO1A
Penetrance
None
Panels with this gene

History Filter Activity

12 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CORO1A were changed from Severe combined immunodeficiency to Immunodeficiency 8

6 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CORO1A were changed from immunodeficiency 8 to Severe combined immunodeficiency

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes immunodeficiency 8 for gene: CORO1A

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes immunodeficiency 8 for gene: CORO1A

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes immunodeficiency 8 for gene: CORO1A

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 CORO1A. Added phenotypes immunodeficiency 8 for gene: CORO1A 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 CORO1A. Added phenotypes immunodeficiency 8 for gene: CORO1A 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 8 for gene: CORO1A

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: CORO1A was added gene: CORO1A was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: CORO1A was set to BIALLELIC, autosomal or pseudoautosomal