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| Structural eye disease v0.76 | SMCHD1 | Nicola Ragge reviewed gene: SMCHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 28067909, 28067911; Phenotypes: ARHINIA, CHOANAL ATRESIA, AND MICROPHTHALMIA, 603457; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | SMCHD1 | Ivone Leong edited their review of gene: SMCHD1: Changed phenotypes: ARHINIA, CHOANAL ATRESIA, AND MICROPHTHALMIA, 603457 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | SMCHD1 | Ivone Leong reviewed gene: SMCHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28067909, 28067911; Phenotypes: Kahrizi Syndrome (mental retardation, cataract, coloboma, kyphosis), 612713; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | SMCHD1 |
Ivone Leong gene: SMCHD1 was added gene: SMCHD1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SMCHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMCHD1 were set to 28067911; 28067909 Phenotypes for gene: SMCHD1 were set to ARHINIA, CHOANAL ATRESIA, AND MICROPHTHALMIA, 603457 |
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