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Mackenzie's Mission_Reproductive Carrier Screening

Gene: MBOAT7

Green List (high evidence)

MBOAT7 (membrane bound O-acyltransferase domain containing 7)
EnsemblGeneIds (GRCh38): ENSG00000125505
EnsemblGeneIds (GRCh37): ENSG00000125505
OMIM: 606048, Gene2Phenotype
MBOAT7 is in 7 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, autosomal recessive 57, 617188 (3)
OMIM
606048
Clinvar variants
Variants in MBOAT7
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: MBOAT7 was added gene: MBOAT7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MBOAT7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MBOAT7 were set to Mental retardation, autosomal recessive 57, 617188 (3)