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Prepair 1000+

Gene: PQBP1

Green List (high evidence)
PQBP1 (polyglutamine binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000102103
EnsemblGeneIds (GRCh37): ENSG00000102103
OMIM: 300463, Gene2Phenotype
PQBP1 is in 11 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association.
Syndromic intellectual developmental disorder with clinically recognizable features - commonly include microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Can be lethal at early age.

Animal model present (mouse).
Created: 25 Sep 2024, 10:32 a.m. | Last Modified: 25 Sep 2024, 10:32 a.m.
Panel Version: 1.322

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

Phenotypes
Renpenning syndrome MIM#309500

Publications

Created: 25 Sep 2024, 10:32 a.m.
Last Modified: 25 Sep 2024, 10:32 a.m.
Panel version: 1.322

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Renpenning syndrome, 309500 (3)
OMIM
300463
Clinvar variants
Variants in PQBP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: pqbp1 has been classified as Green List (High Evidence).

27 Sep 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: PQBP1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Renpenning syndrome, 309500 (3) for gene: PQBP1

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PQBP1 was added gene: PQBP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PQBP1 were set to Renpenning syndrome, 309500 (3)