Cerebral Palsy
Gene: PQBP1
PQBP1 (polyglutamine binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000102103
EnsemblGeneIds (GRCh37): ENSG00000102103
OMIM: 300463, Gene2Phenotype
PQBP1 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000102103
EnsemblGeneIds (GRCh37): ENSG00000102103
OMIM: 300463, Gene2Phenotype
PQBP1 is in 11 panels
1 review
Clare van Eyk (University of Adelaide)
1 hemizygous male reported with splice variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Spastic diplegia is a common feature in individuals with Renpenning syndrome.
Sources: LiteratureCreated: 26 Jun 2024, 2:30 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Renpenning syndrome, MIM#309500
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Red
- Phenotypes
-
- Renpenning syndrome, MIM#309500
- OMIM
- 300463
- Clinvar variants
- Variants in PQBP1
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
History Filter Activity
26 Jun 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pqbp1 has been classified as Red List (Low Evidence).
26 Jun 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pqbp1 has been classified as Red List (Low Evidence).
26 Jun 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: PQBP1 was added gene: PQBP1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PQBP1 were set to PMID: 38693247 Phenotypes for gene: PQBP1 were set to Renpenning syndrome, MIM#309500 Review for gene: PQBP1 was set to RED