PanelApp
  1. Genes and Genomic Entities
  2. NMNAT1

NMNAT1

nicotinamide nucleotide adenylyltransferase 1
OMIM: 608700, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green NMNAT1 in Mendeliome


Version 1.3499

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • NMNAT1-related retinopathy MONDO:0800101
  • Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260
  • Leber congenital amaurosis 9, MIM# 608553
Tags
  • SV/CNV
  • founder

Amber NMNAT1 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.238

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260
Tags
  • SV/CNV
  • founder

Amber NMNAT1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.398

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260
Tags
  • SV/CNV
  • founder

Green NMNAT1 in Retinitis pigmentosa_Autosomal Recessive/X-linked


Level 2: Ophthalmological disorders
Version 0.182

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leber congenital amaurosis 9 MIM#608553

    Green NMNAT1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Leber congenital amaurosis 9, 608553 (3)

    Green NMNAT1 in Congenital nystagmus


    Level 2: Ophthalmological disorders
    Version 1.22

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leber congenital amaurosis 9 MIM#608553
    • Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis MIM#619260

    Green NMNAT1 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Leber congenital amaurosis 9, MIM#608553

    Green NMNAT1 in Vitamin metabolism disorders


    Level 2: Metabolic disorders
    Version 1.7

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Disorders of niacin and NAD metabolism
    • Leber congenital amaurosis 9 MONDO:0012056