PQBP1

polyglutamine binding protein 1
OMIM: 300463, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

No list PQBP1 in Kabuki syndrome

Level 3: Kabuki
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.2

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Literature
Phenotypes
  • intellectual disability
  • long triangular face
  • bulbous nose
  • hypoplastic malar region
  • micrognathia
  • partial agenesis of corpus callosum
  • spasticity
  • contractures

Green PQBP1 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.74

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Renpenning syndrome 309500

Green PQBP1 in Fetal anomalies


Version 0.346

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RENPENNING S(YNDROME 1

Green PQBP1 in DDG2P


Version 1.148

Component of the following Super Panels:

  • Paediatric disorders v4.397
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • RENPENNING S(YNDROME 1 309500

    Red PQBP1 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.59

    Component of the following Super Panels:

  • Paediatric disorders v4.397
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert list
    Phenotypes
    • Renpenning syndrome, 309500

    Green PQBP1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1098

    Component of the following Super Panels:

  • Paediatric disorders v4.397
  • White matter disorders - childhood onset v4.229
  • Hypotonic infant with a likely central cause v3.1049
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Renpenning syndrome, 309500
    • RENPENNING S(YNDROME 1 (RENS1)

    Amber PQBP1 in Structural eye disease


    Version 0.95

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Renpenning syndrome (can include microphthalmia/coloboma), 309500