Deafness_IsolatedAndComplex
Gene: PRPS1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variants in this gene have been associated with X-linked syndromic and non-syndromic hearing loss in over 20 individuals. Of note, 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 (PMID: 24961627).
Created: 2 Oct 2020, 10:30 a.m. | Last Modified: 2 Oct 2020, 10:30 a.m.

Panel Version: 0.548

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Deafness, X-linked 1, MIM# 304500; Charcot-Marie-Tooth disease, X-linked recessive, 5, MIM# 311070; Arts syndrome, MIM# 301835

Publications

Created: 2 Oct 2020, 10:30 a.m.
Last Modified: 2 Oct 2020, 10:30 a.m.
Panel version: 0.548

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

Deafness, X-linked 1, MIM# 304500
Charcot-Marie-Tooth disease, X-linked recessive, 5, MIM# 311070
Arts syndrome, MIM# 301835

OMIM

311850

Clinvar variants

Variants in PRPS1

Penetrance

None

Publications

Panels with this gene