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Mackenzie's Mission_Reproductive Carrier Screening

Gene: PTH1R

Green List (high evidence)

PTH1R (parathyroid hormone 1 receptor)
EnsemblGeneIds (GRCh38): ENSG00000160801
EnsemblGeneIds (GRCh37): ENSG00000160801
OMIM: 168468, Gene2Phenotype
PTH1R is in 15 panels

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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: PTH1R was added gene: PTH1R was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PTH1R was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PTH1R were set to Chondrodysplasia, Blomstrand type, 215045 (3)