CAKUT

Gene: NADSYN1

Green List (high evidence)

NADSYN1 (NAD synthetase 1)
EnsemblGeneIds (GRCh38): ENSG00000172890
EnsemblGeneIds (GRCh37): ENSG00000172890
OMIM: 608285, Gene2Phenotype
NADSYN1 is in 3 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 6 variants reported in at least 4 families, together with supportive functional studies (PMID 31883644).
Created: 21 May 2020, 10:38 a.m. | Last Modified: 21 May 2020, 10:44 a.m.
Panel Version: 1.124

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Five individuals from four unrelated families.
Sources: Expert list
Created: 30 Jan 2020, 4:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple congenital abnormalities; absent kidneys; cardiac; limb; vertebral

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Vertebral, cardiac, renal, and limb defects syndrome 3 618845
OMIM
608285
Clinvar variants
Variants in NADSYN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 May 2020, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: NADSYN1 were changed from Multiple congenital abnormalities; absent kidneys; cardiac; limb; vertebral to Vertebral, cardiac, renal, and limb defects syndrome 3 618845

21 May 2020, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: nadsyn1 has been classified as Green List (High Evidence).

30 Jan 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: NADSYN1 was added gene: NADSYN1 was added to CAKUT. Sources: Expert list 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 Multiple congenital abnormalities; absent kidneys; cardiac; limb; vertebral Review for gene: NADSYN1 was set to GREEN gene: NADSYN1 was marked as current diagnostic