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  3. NADSYN1
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Congenital Heart Defect

Gene: NADSYN1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Five individuals from four unrelated families.
Sources: Expert Review
Created: 29 Nov 2021, 10:37 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 29 Nov 2021, 10:37 p.m.

Panel version: 0.146

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077
  • Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845
OMIM
608285
Clinvar variants
Variants in NADSYN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NADSYN1 were changed from Multiple congenital abnormalities; absent kidneys; cardiac; limb; vertebral to Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077; Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845

29 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

29 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

29 Nov 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NADSYN1 was added gene: NADSYN1 was added to Congenital Heart Defect. Sources: Expert Review 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