Paediatric disorders - additional genes
Gene: NADSYN1
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, LiteratureCreated: 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
Tag for-review was removed from gene: NADSYN1.
Source Expert Review Green was added to NADSYN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: nadsyn1 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: NADSYN1.
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