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Mackenzie's Mission_Reproductive Carrier Screening

Gene: NANS

Green List (high evidence)

NANS (N-acetylneuraminate synthase)
EnsemblGeneIds (GRCh38): ENSG00000095380
EnsemblGeneIds (GRCh37): ENSG00000095380
OMIM: 605202, Gene2Phenotype
NANS is in 7 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442 (3), Autosomal recessive
OMIM
605202
Clinvar variants
Variants in NANS
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: NANS was added gene: NANS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NANS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NANS were set to Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442 (3), Autosomal recessive