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  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. NMNAT1
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Retinitis pigmentosa_Autosomal Recessive/X-linked

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 8 families with biallelic variants and a supporting drosophila model with retinal degeneration.
Sources: Expert list
Created: 22 May 2020, 12:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 9 MIM#608553

Publications

Created: 22 May 2020, 12:22 a.m.

Panel version: 0.28

Details

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

History Filter Activity

22 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

22 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

22 May 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: NMNAT1 was added gene: NMNAT1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list Mode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NMNAT1 were set to 22842230; 17132048 Phenotypes for gene: NMNAT1 were set to Leber congenital amaurosis 9 MIM#608553 Review for gene: NMNAT1 was set to GREEN