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| Structural eye disease v0.76 | PITX2 | Nicola Ragge reviewed gene: PITX2: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 9685346, 9618168, 10051017, 8944018, 18723525, 11487566; Phenotypes: Anterior segment dysgenesis 4 137600, Axenfeld-Rieger syndrome, type 1 180500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | PITX2 | Ivone Leong reviewed gene: PITX2: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 9685346, 9618168, 10051017, 8944018, 18723525, 11487566; Phenotypes: Anterior segment dysgenesis 4 137600, Axenfeld-Rieger syndrome, type 1 180500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | PITX2 |
Ivone Leong Source NHS GMS was added to PITX2. Mode of pathogenicity for gene PITX2 was changed from to Other - please provide details in the comments Added phenotypes Axenfeld-Rieger syndrome, type 1 180500; Anterior segment dysgenesis 4 137600 for gene: PITX2 Publications for gene PITX2 were changed from 9685346; 9618168; 10051017; 8944018; 18723525; 11487566 to 9685346; 18723525; 11487566; 9618168; 10051017; 8944018 |
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| Structural eye disease v0.2 | PITX2 |
Ellen McDonagh gene: PITX2 was added gene: PITX2 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PITX2 were set to 9685346; 9618168; 10051017; 8944018; 18723525; 11487566 Phenotypes for gene: PITX2 were set to Anterior segment dysgenesis 4 137600; Axenfeld-Rieger syndrome, type 1 180500 |
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