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| Structural eye disease v1.101 | PACS1 | Nicola Ragge reviewed gene: PACS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34468556, 34068396, 34631081, 29550517, 26842493; Phenotypes: Schuurs-Hoeijmakers syndrome, 615009; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.96 | PACS1 |
Ivone Leong gene: PACS1 was added gene: PACS1 was added to Structural eye disease. Sources: Expert list Q1_22_NHS_review tags were added to gene: PACS1. Mode of inheritance for gene: PACS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PACS1 were set to 29550517; 26842493; 34631081; 34468556; 34068396 Phenotypes for gene: PACS1 were set to Schuurs-Hoeijmakers syndrome, OMIM:615009 Review for gene: PACS1 was set to AMBER Added comment: Sources: Expert list |
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| Structural eye disease v0.76 | MAK | Nicola Ragge reviewed gene: MAK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 62, 614181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.47 | MAK | Ivone Leong edited their review of gene: MAK: Changed phenotypes: Retinitis pigmentosa 62, 614181 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | MAK | Ivone Leong reviewed gene: MAK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 38, 613862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | MAK |
Ivone Leong Source NHS GMS was added to MAK. Mode of inheritance for gene MAK was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 62, 614181 for gene: MAK |
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| Structural eye disease v0.2 | MAK |
Ellen McDonagh gene: MAK was added gene: MAK was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: MAK was set to Phenotypes for gene: MAK were set to Eye Disorders |
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