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  2. Clefting
  3. PQBP1
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Clefting

Gene: PQBP1

Red List (low evidence)
PQBP1 (polyglutamine binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000102103
EnsemblGeneIds (GRCh37): ENSG00000102103
OMIM: 300463, Gene2Phenotype
PQBP1 is in 8 panels

1 review

Louise Daugherty (Genomics England Curator)

Comment on publications: Clefting not a key feature only reported in one publication
Created: 31 May 2017, 2:44 p.m.

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

Phenotypes
Renpenning syndrome, 309500

Created: 31 May 2017, 2:24 p.m.

Panel version: 0.315

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
Phenotypes
  • Renpenning syndrome, 309500
OMIM
300463
Clinvar variants
Variants in PQBP1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

31 May 2017, Gel status: 0

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

31 May 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for PQBP1 were set to 7943045

31 May 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

PQBP1 was created by LouiseD

31 May 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

PQBP1 was added to Cleftingpanel. Sources: Expert list