Gene Symbol:
IMPDH1
HGNC:6052
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
7q32.1
Filters:

Definitive classifications

retinitis pigmentosa 10
Submitted as: OMIM:180105
AD
08/28/2017
Evaluated
09/11/2023
Submitted
Leber congenital amaurosis 11
Submitted as: OMIM:613837
AD
08/28/2017
Evaluated
09/11/2023
Submitted
inherited retinal dystrophy
AD
02/01/2024
Evaluated
04/21/2024
Submitted

Strong classifications

retinitis pigmentosa 10
Submitted as: OMIM:180105
AD
09/28/2023
Evaluated
11/30/2023
Submitted

Moderate classifications

retinitis pigmentosa 10
Submitted as: OMIM:180105
AD
01/09/2019
Evaluated
03/02/2021
Submitted

Supportive classifications

retinitis pigmentosa
Submitted as: Orphanet:791
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

Leber congenital amaurosis 11
Submitted as: OMIM:613837
AD
04/09/2020
Evaluated
11/30/2023
Submitted

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