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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 7 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Established gene disease association.

This condition is characterized by recurrent infections, eczema, food allergy, asthma, skin vasculitis, colitis, arthritis, short stature, and lymphadenopathy (PMID: 36708766). Onset in infancy or early childhood.
Created: 17 Sep 2024, 6:35 a.m. | Last Modified: 17 Sep 2024, 6:35 a.m.
Panel Version: 1.304

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM#617718

Publications

Created: 17 Sep 2024, 6:35 a.m.
Last Modified: 17 Sep 2024, 6:35 a.m.
Panel version: 1.304

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia MIM#617718
OMIM
604223
Clinvar variants
Variants in ARPC1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: arpc1b has been classified as Green List (High Evidence).

18 Sep 2024, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: ARPC1B were changed from Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 (3), Autosomal recessive to Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia MIM#617718

18 Sep 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: ARPC1B were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ARPC1B was added gene: ARPC1B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARPC1B were set to Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 (3), Autosomal recessive