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  2. Inherited bleeding disorders
  3. ARPC1B
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Inherited bleeding 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 5 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed rating from Grey to Green based on expert list/supporting information from the NIHRBR-RD BRIDGE project
Created: 9 Aug 2017, 12:56 p.m.
Created: 9 Aug 2017, 12:56 p.m.

Panel version: 1.71

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Current level of evidence and expert review, High level of confidence as disease-causing gene. Proven in 3 unrelated pedigrees via cosegregation analysis or less than 3 or 1 large pedigree supported with functional studies (animal model). Ready for clinical reporting. Previous comments from expert reviewer, observed in the NIHRBR-RD BRIDGE cohort.
Created: 9 Aug 2017, 12:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Platelet disorder; Thrombocytopenia and Immune Deficiency

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 9 Aug 2017, 12:32 p.m.

Panel version: 1.65

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM:617718
  • Combined immune deficiency with or without thrombocytopenia
  • Inflammatory predisposition
OMIM
604223
Clinvar variants
Variants in ARPC1B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Apr 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ARPC1B were changed from Platelet disorder; Thrombocytopenia and Immune Deficiency to Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM:617718; Combined immune deficiency with or without thrombocytopenia; Inflammatory predisposition

9 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Aug 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

ARPC1B was added to Inherited bleeding disorderspanel. Sources: Expert Review Green,BRIDGE Study Tier 1 Gene

9 Aug 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

ARPC1B was created by BRIDGE