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Skeletal dysplasia

Gene: NMNAT1

No list

NMNAT1 (nicotinamide nucleotide adenylyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000173614
EnsemblGeneIds (GRCh37): ENSG00000173614
OMIM: 608700, Gene2Phenotype
NMNAT1 is in 6 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

The association with LCA is well established.

New report of a syndromic LCA disorder and note also unusual variant type. Three families, but two are distantly related (shared haplotype). The affected children in those two families were homozygous for 7.4-kb duplication involving the last 2 exons of the NMNAT1 gene, spanning the beginning of intron 3 to the middle of the 3-prime UTR (chr1:10,036,359-10,043,727, GRCh37). The third affected individual was compound het for the duplication and a splicing variant.
Sources: Literature
Created: 17 Apr 2021, 7:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260
OMIM
608700
Clinvar variants
Variants in NMNAT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: NMNAT1 was added gene: NMNAT1 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NMNAT1 were set to 32533184 Phenotypes for gene: NMNAT1 were set to Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260 Review for gene: NMNAT1 was set to GREEN gene: NMNAT1 was marked as current diagnostic