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Newborns main panel

Gene: ARPC1B

Green List (high evidence)
ARPC1B (actin related protein 2/3 complex subunit 1B)
EnsemblGeneIds (GRCh38): ENSG00000130429
EnsemblGeneIds (GRCh37): ENSG00000130429
OMIM: 604223, Gene2Phenotype
ARPC1B is in 5 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
https://search.clinicalgenome.org/kb/genes/HGNC:704
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
  • Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
OMIM
604223
Clinvar variants
Variants in ARPC1B
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease for gene: ARPC1B

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease for gene: ARPC1B

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease for gene: ARPC1B

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 ARPC1B. Added phenotypes Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease for gene: ARPC1B 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 ARPC1B. Added phenotypes Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease for gene: ARPC1B 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 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease for gene: ARPC1B

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: ARPC1B was added gene: ARPC1B was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal