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Mackenzie's Mission_Reproductive Carrier Screening

Gene: VPS11

Green List (high evidence)

VPS11 (VPS11, CORVET/HOPS core subunit)
EnsemblGeneIds (GRCh38): ENSG00000160695
EnsemblGeneIds (GRCh37): ENSG00000160695
OMIM: 608549, Gene2Phenotype
VPS11 is in 8 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukodystrophy, hypomyelinating, 12, 616683 (3), Autosomal recessive
OMIM
608549
Clinvar variants
Variants in VPS11
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: VPS11 was added gene: VPS11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS11 were set to Leukodystrophy, hypomyelinating, 12, 616683 (3), Autosomal recessive