Gene Symbol:
PRPS1
HGNC:9462
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Filters:

Definitive classifications

Charcot-Marie-Tooth disease X-linked recessive 5
Submitted as: OMIM:311070
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
deafness, X-linked 1
Submitted as: OMIM:304500
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
phosphoribosylpyrophosphate synthetase superactivity
Submitted as: OMIM:300661
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
Arts syndrome
Submitted as: OMIM:301835
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
PRPS1 deficiency disorder
XL
02/14/2020
Evaluated
08/16/2021
Submitted

Strong classifications

deafness, X-linked 1
Submitted as: OMIM:304500
XL
10/09/2020
Evaluated
11/09/2020
Submitted
Charcot-Marie-Tooth disease X-linked recessive 5
Submitted as: OMIM:311070
XL
10/09/2020
Evaluated
11/09/2020
Submitted

Limited classifications

phosphoribosylpyrophosphate synthetase superactivity
XL
02/14/2020
Evaluated
08/16/2021
Submitted

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