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Mackenzie's Mission_Reproductive Carrier Screening

Gene: RAB39B

Green List (high evidence)

RAB39B (RAB39B, member RAS oncogene family)
EnsemblGeneIds (GRCh38): ENSG00000155961
EnsemblGeneIds (GRCh37): ENSG00000155961
OMIM: 300774, Gene2Phenotype
RAB39B is in 8 panels

0 reviews

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, X-linked 72, 300271 (3)
OMIM
300774
Clinvar variants
Variants in RAB39B
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: RAB39B was added gene: RAB39B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RAB39B were set to Mental retardation, X-linked 72, 300271 (3)