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  2. Microcephaly
  3. PQBP1
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Microcephaly

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)

Well established gene-disease association. Microcephaly is a feature.
Created: 1 Apr 2021, 6:19 a.m. | Last Modified: 1 Apr 2021, 6:19 a.m.
Panel Version: 0.600

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

Phenotypes
Renpenning syndrome, MIM# 309500

Created: 1 Apr 2021, 6:19 a.m.
Last Modified: 1 Apr 2021, 6:19 a.m.
Panel version: 0.600

Details

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

History Filter Activity

1 Apr 2021, 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).

1 Apr 2021, 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

1 Apr 2021, 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

17 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 Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PQBP1 was set to Unknown