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Prepair 1000+

Gene: RFXAP

Green List (high evidence)

RFXAP (regulatory factor X associated protein)
EnsemblGeneIds (GRCh38): ENSG00000133111
EnsemblGeneIds (GRCh37): ENSG00000133111
OMIM: 601861, Gene2Phenotype
RFXAP is in 5 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Bare lymphocyte syndrome, type II, complementation group D, 209920 (3)
OMIM
601861
Clinvar variants
Variants in RFXAP
Penetrance
None
Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RFXAP was added gene: RFXAP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RFXAP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RFXAP were set to Bare lymphocyte syndrome, type II, complementation group D, 209920 (3)