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Kidneyome_SuperPanel_VCGS

Gene: NADSYN1

Green List (high evidence)

NADSYN1 (NAD synthetase 1)
EnsemblGeneIds (GRCh38): ENSG00000172890
EnsemblGeneIds (GRCh37): ENSG00000172890
OMIM: 608285, Gene2Phenotype
NADSYN1 is in 4 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • limb
  • cardiac
  • absent kidneys
  • vertebral
  • Multiple congenital abnormalities
OMIM
608285
Clinvar variants
Variants in NADSYN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: NADSYN1 was added gene: NADSYN1 was added to Kidneyome_SuperPanel_VCGS. Sources: Expert Review Green,Literature Mode of inheritance for gene: NADSYN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NADSYN1 were set to 31883644 Phenotypes for gene: NADSYN1 were set to limb; cardiac; absent kidneys; vertebral; Multiple congenital abnormalities