ARPC1B

actin related protein 2/3 complex subunit 1B
OMIM: 604223, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green ARPC1B in COVID-19 research


Level 2: Viral research
Version 1.141

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • North West GLH
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Expert Review Green
  • GRID V2.0
Phenotypes
  • Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM:617718
  • Combined immune deficiency with or without thrombocytopenia
  • Inflammatory predisposition
Green ARPC1B in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.177

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM:617718
  • Combined immune deficiency with or without thrombocytopenia
  • Inflammatory predisposition
Green ARPC1B in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.201
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Expert Review Green
  • GRID V2.0
Phenotypes
  • Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM:617718
  • Combined immune deficiency with or without thrombocytopenia
  • Inflammatory predisposition
Green ARPC1B in Bleeding and platelet disorders


Version 3.9
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM:617718
Red ARPC1B in Cytopenia - NOT Fanconi anaemia


Version 3.32
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert review Red
  • NHS GMS
  • North West GLH
  • London South GLH
  • Yorkshire and North East GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM:617718
Green ARPC1B in Severe Paediatric Disorders


Version 1.184

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM:617718