Paediatric disorders - additional genes

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

Sarah Leigh (Genomics England Curator)

I don't know

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 10 Mar 2022, 3:53 p.m. | Last Modified: 10 Mar 2022, 3:53 p.m.
Panel Version: 1.96
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).
Sources: Expert list, Literature
Created: 21 May 2020, 10:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Vertebral, cardiac, renal, and limb defects syndrome 3 618845

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert list
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

10 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: NADSYN1.

10 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to NADSYN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

21 May 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: nadsyn1 has been classified as Amber List (Moderate Evidence).

21 May 2020, Gel status: 1

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: NADSYN1.

21 May 2020, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: NADSYN1 was added gene: NADSYN1 was added to Paediatric disorders - additional genes. Sources: Expert list,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 Vertebral, cardiac, renal, and limb defects syndrome 3 618845 Review for gene: NADSYN1 was set to AMBER