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| Structural eye disease v3.54 | PQBP1 | Sarah Leigh reviewed gene: PQBP1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.54 | PQBP1 | Sarah Leigh Phenotypes for gene: PQBP1 were changed from Renpenning syndrome (can include microphthalmia/coloboma), 309500 to Renpenning syndrome, OMIM:309500; Renpenning syndrome, MONDO:0010653 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.53 | PQBP1 | Sarah Leigh Publications for gene: PQBP1 were set to 17033686 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.4 | PQBP1 | Hannah Knight reviewed gene: PQBP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31718390; Phenotypes: Renpenning syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | PQBP1 | Nicola Ragge reviewed gene: PQBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 17033686; Phenotypes: Renpenning syndrome (can include microphthalmia/coloboma), 309500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | PQBP1 | Ivone Leong edited their review of gene: PQBP1: Changed phenotypes: Renpenning syndrome (can include microphthalmia/coloboma), 309500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | PQBP1 | Ivone Leong reviewed gene: PQBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 17033686; Phenotypes: Brittle cornea syndrome 2, 614170; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | PQBP1 |
Ivone Leong 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 |
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