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Mackenzie's Mission_Reproductive Carrier Screening

Gene: HERC2

Green List (high evidence)

HERC2 (HECT and RLD domain containing E3 ubiquitin protein ligase 2)
EnsemblGeneIds (GRCh38): ENSG00000128731
EnsemblGeneIds (GRCh37): ENSG00000128731
OMIM: 605837, Gene2Phenotype
HERC2 is in 9 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, autosomal recessive 38, 615516 (3)
OMIM
605837
Clinvar variants
Variants in HERC2
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: HERC2 was added gene: HERC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HERC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HERC2 were set to Mental retardation, autosomal recessive 38, 615516 (3)