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Mackenzie's Mission_Reproductive Carrier Screening

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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 (3), Autosomal recessive
OMIM
604223
Clinvar variants
Variants in ARPC1B
Penetrance
None
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ARPC1B was added gene: ARPC1B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARPC1B were set to Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 (3), Autosomal recessive