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| Structural eye disease v0.76 | ACTB | Nicola Ragge reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 2505231; Phenotypes: Baraitser-Winter syndrome 1, 243310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | ACTB | Ivone Leong reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 2505231; Phenotypes: Baraitser-Winter syndrome 1, 243310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.16 | ACTB | Ivone Leong Phenotypes for gene: ACTB were changed from Baraitser-Winter syndrome 1, 243310; Baraitser-Winter syndrome 1, 243310 to Baraitser-Winter syndrome 1, 243310 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | ACTB |
Ivone Leong Source NHS GMS was added to ACTB. Mode of pathogenicity for gene ACTB was changed from to Other - please provide details in the comments Added phenotypes Baraitser-Winter syndrome 1, 243310 for gene: ACTB |
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| Structural eye disease v0.2 | ACTB |
Ellen McDonagh gene: ACTB was added gene: ACTB was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTB were set to 2505231 Phenotypes for gene: ACTB were set to Baraitser-Winter syndrome 1, 243310 |
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