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| Structural eye disease v0.76 | ACTG1 | Nicola Ragge reviewed gene: ACTG1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 22366783; Phenotypes: Baraitser-Winter syndrome 2, 614583; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | ACTG1 | Ivone Leong reviewed gene: ACTG1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 22366783; Phenotypes: Baraitser-Winter syndrome 2, 614583; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.17 | ACTG1 | Ivone Leong Phenotypes for gene: ACTG1 were changed from Baraitser-Winter syndrome 2, 614583; Baraitser-Winter syndrome 2, 614583 to Baraitser-Winter syndrome 2, 614583 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | ACTG1 |
Ivone Leong Source NHS GMS was added to ACTG1. Mode of pathogenicity for gene ACTG1 was changed from to Other - please provide details in the comments Added phenotypes Baraitser-Winter syndrome 2, 614583 for gene: ACTG1 |
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| Structural eye disease v0.2 | ACTG1 |
Ellen McDonagh gene: ACTG1 was added gene: ACTG1 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTG1 were set to 22366783 Phenotypes for gene: ACTG1 were set to Baraitser-Winter syndrome 2, 614583 |
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