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Intellectual disability syndromic and non-syndromic

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Common features 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.
Created: 31 Mar 2020, 5:46 a.m. | Last Modified: 31 Mar 2020, 5:46 a.m.
Panel Version: 0.2495

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

Phenotypes
Renpenning syndrome, MIM#309500

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Renpenning syndrome, MIM#309500
OMIM
300463
Clinvar variants
Variants in PQBP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Mar 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PQBP1 were changed from to Renpenning syndrome, MIM#309500

31 Mar 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PQBP1 were set to

31 Mar 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PQBP1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PQBP1 was added gene: PQBP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PQBP1 was set to Unknown