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  2. Cytopenia - NOT Fanconi anaemia
  3. ARPC1B
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Cytopenia - NOT Fanconi anaemia

Gene: ARPC1B

Red List (low evidence)
ARPC1B (actin related protein 2/3 complex subunit 1B)
EnsemblGeneIds (GRCh38): ENSG00000130429
EnsemblGeneIds (GRCh37): ENSG00000130429
OMIM: 604223, Gene2Phenotype
ARPC1B is in 5 panels

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agree to rate this gene Red on this panel. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Platelet structural abnormalities with eosinophilia and immune-mediated inflammatory disease, unlikely to present as simple thrombocytopenia; North West GLH: Immunodeficiency and thrombocytopenia; Yorkshire and North East GLH: no comment submitted; London South GLH: no comment submitted.
Created: 4 Nov 2019, 7:30 p.m. | Last Modified: 4 Nov 2019, 7:30 p.m.
Panel Version: 0.135
Created: 4 Nov 2019, 7:30 p.m.
Last Modified: 4 Nov 2019, 7:30 p.m.
Panel version: 0.135

Details

Mode of Inheritance
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
OMIM
604223
Clinvar variants
Variants in ARPC1B
Penetrance
None
Panels with this gene

History Filter Activity

6 Apr 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ARPC1B were changed from Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 to Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM:617718

4 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to ARPC1B.

4 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert review Red was added to ARPC1B.

4 Nov 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene ARPC1B was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 for gene: ARPC1B

4 Nov 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ARPC1B was added gene: ARPC1B was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS Mode of inheritance for gene: ARPC1B was set to