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Mackenzie's Mission_Reproductive Carrier Screening

Gene: TAP1

Green List (high evidence)

TAP1 (transporter 1, ATP binding cassette subfamily B member)
EnsemblGeneIds (GRCh38): ENSG00000168394
EnsemblGeneIds (GRCh37): ENSG00000168394
OMIM: 170260, Gene2Phenotype
TAP1 is in 4 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bare lymphocyte syndrome, type I, 604571 (3)
OMIM
170260
Clinvar variants
Variants in TAP1
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: TAP1 was added gene: TAP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TAP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TAP1 were set to Bare lymphocyte syndrome, type I, 604571 (3)