Gene Symbol:
NMNAT1
HGNC:17877
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
1p36.22
Filters:

Definitive classifications

Leber congenital amaurosis 9
Submitted as: OMIM:608553
AR
07/22/2015
Evaluated
09/11/2023
Submitted
NMNAT1-related retinopathy
AR
11/04/2021
Evaluated
04/21/2024
Submitted

Strong classifications

Leber congenital amaurosis 9
Submitted as: OMIM:608553
AR
06/08/2023
Evaluated
11/30/2023
Submitted

Supportive classifications

cone-rod dystrophy
Submitted as: Orphanet:1872
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Leber congenital amaurosis
Submitted as: Orphanet:65
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis
Submitted as: OMIM:619260
AR
04/26/2021
Evaluated
11/30/2023
Submitted

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