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| Structural eye disease v0.76 | PTCH1 | Nicola Ragge reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 16024850, 17001668; Phenotypes: Holoprosencephaly 7 (can include microphthalmia), 610828; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | PTCH1 | Ivone Leong edited their review of gene: PTCH1: Changed phenotypes: Holoprosencephaly 7 (can include microphthalmia), 610828 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.45 | PTCH1 | Ivone Leong Publications for gene: PTCH1 were set to 17001668; 16024850; 28496998 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.44 | PTCH1 | Ivone Leong Phenotypes for gene: PTCH1 were changed from Holoprosencephaly 7 (can include microphthalmia), 610828 to Holoprosencephaly 7 (can include microphthalmia), 610828; Corneal opacification and other ocular anomalies, 269400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.43 | PTCH1 | Ivone Leong Publications for gene: PTCH1 were set to 17001668; 16024850 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | PTCH1 | Ivone Leong reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16024850, 17001668; Phenotypes: Corneal opacification and other ocular anomalies, 269400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | PTCH1 |
Ivone Leong gene: PTCH1 was added gene: PTCH1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTCH1 were set to 17001668; 16024850 Phenotypes for gene: PTCH1 were set to Holoprosencephaly 7 (can include microphthalmia), 610828 |
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