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  2. Bleeding and Platelet Disorders
  3. ARPC1B
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Bleeding and Platelet Disorders

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)

At least 9 unrelated families reported. Treatable: BMT.
Sources: Expert list
Created: 11 Aug 2020, 4:37 a.m. | Last Modified: 22 Sep 2022, 1:19 a.m.
Panel Version: 1.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 11 Aug 2020, 4:37 a.m.
Last Modified: 22 Sep 2022, 1:19 a.m.
Panel version: 0.41

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM# 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.

11 Aug 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).

11 Aug 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).

11 Aug 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 Bleeding Disorders. Sources: Expert list Mode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARPC1B were set to 28368018; 27965109; 29127144; 30254128 Phenotypes for gene: ARPC1B were set to Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM# 617718 Review for gene: ARPC1B was set to GREEN