Structural eye disease
Gene: PQBP1
PQBP1 variants are associated with Renpenning syndrome (OMIM:309500) and as definitive Gen2Phen gene for the same condition. To date, an ocular phenotype has only been reported in two unrelated cases (PMID: 17033686; 31718390).Created: 31 Oct 2023, 12:19 p.m. | Last Modified: 31 Oct 2023, 12:19 p.m.
Panel Version: 3.54
PMID: 31718390 reported microphthalmia and coloboma in two brothers, among other syndromic features. Previously reported hemizygous frameshift variant identified in both, and unaffected mother confirmed as a carrier (c.450_453del; p.(Asp150fs)Created: 18 Sep 2023, 2:48 p.m. | Last Modified: 18 Sep 2023, 2:48 p.m.
Panel Version: 3.4
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Renpenning syndrome
Publications
FC - PMID: 17033686 is the only report where the patients' phenotype included microphthalmia and choroid coloboma - pedigree with two affected male cousins, segregation and mosaicism in the maternal grandmother. Animal models (Drosophila and mouse) exhibit neurological phenotypes.Created: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Renpenning syndrome (can include microphthalmia/coloboma); 309500
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). FC - PMID: 17033686 is the only report where the patients' phenotype included microphthalmia and choroid coloboma - pedigree with two affected male cousins, segregation and mosaicism in the maternal grandmother. Animal models (Drosophila and mouse) exhibit neurological phenotypes.Created: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Renpenning syndrome (can include microphthalmia/coloboma); 309500
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: PQBP1 were changed from Renpenning syndrome (can include microphthalmia/coloboma), 309500 to Renpenning syndrome, OMIM:309500; Renpenning syndrome, MONDO:0010653
Publications for gene: PQBP1 were set to 17033686
gene: PQBP1 was added gene: PQBP1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PQBP1 were set to 17033686 Phenotypes for gene: PQBP1 were set to Renpenning syndrome (can include microphthalmia/coloboma), 309500