Gene Symbol:
PRPS1
HGNC:9462
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
Xq22.3
Filters:

Definitive classifications

PRPS1 deficiency disorder
XL
07/27/2021
Evaluated
10/27/2022
Submitted
Charcot-Marie-Tooth disease X-linked recessive 5
Submitted as: OMIM:311070
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
hearing loss, 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
phosphoribosylpyrophosphate synthetase superactivity
Submitted as: OMIM:300661
XL
07/22/2015
Evaluated
09/11/2023
Submitted
hearing loss, X-linked 1
Submitted as: OMIM:304500
XL
07/22/2015
Evaluated
09/11/2023
Submitted
Charcot-Marie-Tooth disease X-linked recessive 5
Submitted as: OMIM:311070
XL
07/22/2015
Evaluated
09/11/2023
Submitted
Arts syndrome
Submitted as: OMIM:301835
XL
08/30/2017
Evaluated
09/11/2023
Submitted
PRPS1 deficiency disorder
XL
02/14/2020
Evaluated
10/18/2023
Submitted

Strong classifications

hearing loss, X-linked 1
Submitted as: OMIM:304500
XL
10/09/2020
Evaluated
11/09/2020
Submitted
Arts syndrome
Submitted as: OMIM:301835
XL
12/14/2018
Evaluated
11/30/2023
Submitted
phosphoribosylpyrophosphate synthetase superactivity
Submitted as: OMIM:300661
XL
12/14/2018
Evaluated
11/30/2023
Submitted
Charcot-Marie-Tooth disease X-linked recessive 5
Submitted as: OMIM:311070
XL
10/09/2020
Evaluated
11/09/2020
Submitted

Supportive classifications

X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
Submitted as: Orphanet:423479
XL
09/14/2021
Evaluated
09/14/2021
Submitted
mild phosphoribosylpyrophosphate synthetase superactivity
Submitted as: Orphanet:411536
XL
09/14/2021
Evaluated
09/14/2021
Submitted
Charcot-Marie-Tooth disease X-linked recessive 5
Submitted as: Orphanet:99014
XL
09/14/2021
Evaluated
09/14/2021
Submitted
X-linked nonsyndromic hearing loss
Submitted as: Orphanet:90625
XL
09/14/2021
Evaluated
09/14/2021
Submitted
XL
09/14/2021
Evaluated
09/14/2021
Submitted
severe phosphoribosylpyrophosphate synthetase superactivity
Submitted as: Orphanet:411543
XL
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

phosphoribosylpyrophosphate synthetase superactivity
XL
02/14/2020
Evaluated
10/18/2023
Submitted

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