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  2. Combined Immunodeficiency
  3. ARPC1B
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Combined Immunodeficiency

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Third family reported PMID 33679784
Created: 14 Mar 2021, 5:11 a.m. | Last Modified: 14 Mar 2021, 5:11 a.m.
Panel Version: 0.177
Three patients from two families with functional data.
Sources: Expert list
Created: 8 Jan 2020, 12:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 617718

Publications

Created: 8 Jan 2020, 12:37 a.m.

Panel version: 0.177

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 617718
Tags
treatable
OMIM
604223
Clinvar variants
Variants in ARPC1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: ARPC1B.

14 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ARPC1B were set to 28368018

8 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

8 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

8 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

8 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

8 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ARPC1B was added gene: ARPC1B was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARPC1B were set to 28368018 Phenotypes for gene: ARPC1B were set to Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 617718 Review for gene: ARPC1B was set to GREEN