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Mackenzie's Mission_Reproductive Carrier Screening

Gene: LMAN1

Green List (high evidence)

LMAN1 (lectin, mannose binding 1)
EnsemblGeneIds (GRCh38): ENSG00000074695
EnsemblGeneIds (GRCh37): ENSG00000074695
OMIM: 601567, Gene2Phenotype
LMAN1 is in 5 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined factor V and VIII deficiency, 227300 (3)
OMIM
601567
Clinvar variants
Variants in LMAN1
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: LMAN1 was added gene: LMAN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LMAN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LMAN1 were set to Combined factor V and VIII deficiency, 227300 (3)