| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Structural eye disease v1.115 | OCRL | Ivone Leong Tag Q2_21_rating was removed from gene: OCRL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.115 | OCRL | Ivone Leong commented on gene: OCRL: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.114 | OCRL |
Ivone Leong Source Expert Review Green was added to OCRL. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Structural eye disease v1.101 | OCRL | Nicola Ragge edited their review of gene: OCRL: Added comment: Yuksel et al 2009. Boy with Lowe syndrome, including microphthalmia and a missense in OCRL1, inheritance not reported. Ma et al. 2020 137 individuals with Lowe syndrome, 79 had molecular confirmation of OCRL1 variant (variants not listed), 41% had developmental glaucoma. Song et al. 2017 2 individuals with Lowe Syndrome and glaucoma with truncating variants inherited from carrier mother (X-linked). Many further reports; Changed rating: GREEN; Changed publications to: 19168822, 32340490, 28473699; Changed phenotypes to: Lowe syndrome 309000, 309000, Lowe syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.57 | OCRL | Ivone Leong commented on gene: OCRL: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. Glaucoma is present in ~50% of cases, GeneReviews. Therefore this gene should be promoted to Green status at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.57 | OCRL | Ivone Leong Tag Q2_21_rating tag was added to gene: OCRL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.57 | OCRL | Ivone Leong Phenotypes for gene: OCRL were changed from Lowe syndrome, 309000 to Lowe syndrome, OMIM:309000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | OCRL | Nicola Ragge reviewed gene: OCRL: Rating: AMBER; Mode of pathogenicity: ; Publications: 19168822; Phenotypes: Lowe syndrome, 309000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | OCRL | Ivone Leong edited their review of gene: OCRL: Changed phenotypes: Lowe syndrome, 309000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | OCRL | Ivone Leong reviewed gene: OCRL: Rating: AMBER; Mode of pathogenicity: ; Publications: 19168822; Phenotypes: MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION, 614292; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | OCRL |
Ivone Leong gene: OCRL was added gene: OCRL was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: OCRL were set to 19168822 Phenotypes for gene: OCRL were set to Lowe syndrome, 309000 |
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