CAKUT
Gene: NADSYN1Comment 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
Five individuals from four unrelated families.
Sources: Expert listCreated: 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
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
Gene: nadsyn1 has been classified as Green List (High Evidence).
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