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| Structural eye disease v0.76 | RP2 | Nicola Ragge reviewed gene: RP2: Rating: RED; Mode of pathogenicity: ; Publications: 21738648; Phenotypes: Retinitis pigmentosa 2, 312600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | LRP2 | Nicola Ragge reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17632512, 8266995, 18553518; Phenotypes: Donnai-Barrow syndrome, 222448; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.71 | LRP2 | Ivone Leong edited their review of gene: LRP2: Added comment: Promoted from amber to green as there is sufficient evidence.; Changed publications: 17632512, 8266995, 18553518 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.48 | RP2 | Ivone Leong edited their review of gene: RP2: Changed phenotypes: Retinitis pigmentosa 2, 312600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | RP2 | Ivone Leong reviewed gene: RP2: Rating: RED; Mode of pathogenicity: ; Publications: 21738648; Phenotypes: ?Retinitis pigmentosa 9, 180104; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | LRP2 | Ivone Leong reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17632512, 8266995, 18553518; Phenotypes: Donnai-Barrow syndrome, 222448; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | RP2 |
Ivone Leong Source NHS GMS was added to RP2. Mode of inheritance for gene RP2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Retinitis pigmentosa 2, 312600 for gene: RP2 Publications for gene RP2 were changed from to 21738648 |
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| Structural eye disease v0.15 | LRP2 |
Ivone Leong Source NHS GMS was added to LRP2. Source Expert Review Green was added to LRP2. Added phenotypes Donnai-Barrow syndrome, 222448 for gene: LRP2 Publications for gene LRP2 were changed from 17632512, 8266995 to 8266995; 18553518; 17632512 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Structural eye disease v0.2 | RP2 |
Ellen McDonagh gene: RP2 was added gene: RP2 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: RP2 was set to Phenotypes for gene: RP2 were set to Eye Disorders |
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| Structural eye disease v0.2 | LRP2 |
Ellen McDonagh gene: LRP2 was added gene: LRP2 was added to Structural eye disease. Sources: Expert Review Amber Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRP2 were set to 17632512, 8266995 Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome, 222448 |
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