Intellectual disability syndromic and non-syndromic
Gene: PRPS1

PRPS1 (phosphoribosyl pyrophosphate synthetase 1)
EnsemblGeneIds (GRCh38): ENSG00000147224
EnsemblGeneIds (GRCh37): ENSG00000147224
OMIM: 311850, Gene2Phenotype
PRPS1 is in 16 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Clingen has lumped the following as one entity
MIM:304500 - Deafness, X-linked 1
MIM:311070 - Charcot-Marie-Tooth disease, X-linked recessive, 5
MIM:301835 - Arts syndrome

intellectual disability and developmental delay are usually associated with Arts syndrome and more severe cases of PRPS1 deficiency, but not CMTX5 or nonsyndromic hearing loss

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9416f6e2-8de3-48b0-9a1c-9bd11a59315c-2020-02-14T170000.000Z?page=1&size=25&search=
Created: 14 Nov 2024, 3:33 a.m. | Last Modified: 14 Nov 2024, 3:33 a.m.

Panel Version: 0.6718

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
PRPS1 deficiency disorder MONDO:0100061

Publications

24961627

Variants in this GENE are reported as part of current diagnostic practice

Created: 14 Nov 2024, 3:33 a.m.
Last Modified: 14 Nov 2024, 3:33 a.m.
Panel version: 0.6718

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Expert Review Green
Genetic Health Queensland

Phenotypes

PRPS1 deficiency disorder MONDO:0100061

OMIM

311850

Clinvar variants

Variants in PRPS1

Penetrance

None

Publications

24961627

Panels with this gene