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Mackenzie's Mission_Reproductive Carrier Screening

Gene: GMPPA

Green List (high evidence)

GMPPA (GDP-mannose pyrophosphorylase A)
EnsemblGeneIds (GRCh38): ENSG00000144591
EnsemblGeneIds (GRCh37): ENSG00000144591
OMIM: 615495, Gene2Phenotype
GMPPA is in 10 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Alacrima, achalasia, and mental retardation syndrome, 615510 (3)
OMIM
615495
Clinvar variants
Variants in GMPPA
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: GMPPA was added gene: GMPPA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GMPPA were set to Alacrima, achalasia, and mental retardation syndrome, 615510 (3)