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| Structural eye disease v0.76 | SHH | Nicola Ragge reviewed gene: SHH: Rating: GREEN; Mode of pathogenicity: ; Publications: 12503095, 20425842; Phenotypes: Holoprosencephaly-3, 142945, Microphthalmia with coloboma 5, 611638, Single median maxillary central incisor, 147250, Schizencephaly, 269160; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | SHH | Ivone Leong reviewed gene: SHH: Rating: GREEN; Mode of pathogenicity: ; Publications: 12503095, 20425842; Phenotypes: Holoprosencephaly-3, 142945, Microphthalmia with coloboma 5, 611638, Single median maxillary central incisor, 147250, Schizencephaly, 269160; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | SHH |
Ivone Leong Source NHS GMS was added to SHH. Added phenotypes Holoprosencephaly-3, 142945; Schizencephaly, 269160; Single median maxillary central incisor, 147250; Microphthalmia with coloboma 5, 611638 for gene: SHH Publications for gene SHH were changed from to 20425842; 12503095 |
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| Structural eye disease v0.2 | SHH |
Ellen McDonagh gene: SHH was added gene: SHH was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SHH were set to Holoprosencephaly-3, 142945; Microphthalmia with coloboma 5, 611638; Single median maxillary central incisor, 147250; Schizencephaly, 269160 |
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