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Prepair 1000+

Gene: NMNAT1

Green List (high evidence)

NMNAT1 (nicotinamide nucleotide adenylyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000173614
EnsemblGeneIds (GRCh37): ENSG00000173614
OMIM: 608700, Gene2Phenotype
NMNAT1 is in 8 panels

1 review

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

Syndromic and non-syndromic causes of LCA are associated with bi-allelic variants in this gene.

Non-syndromic LCA: multiple affected families reported, p.Glu257Lys is a common founder variant.

Syndromic disorder: three families reported, 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.

Green for non-syndromic LCA (MIM# added to review). No additional affected individuals in the literature for syndromic LCA (Amber? MIM# has not been added to review).
Created: 6 Jan 2025, 6:16 a.m. | Last Modified: 6 Jan 2025, 6:17 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 9 (MIM#608553)

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leber congenital amaurosis 9, MIM#608553
OMIM
608700
Clinvar variants
Variants in NMNAT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nmnat1 has been classified as Green List (High Evidence).

17 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NMNAT1 were changed from Leber congenital amaurosis 9, 608553 (3) to Leber congenital amaurosis 9, MIM#608553

17 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NMNAT1 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NMNAT1 was added gene: NMNAT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NMNAT1 were set to Leber congenital amaurosis 9, 608553 (3)