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| Eye Anterior Segment Abnormalities v1.15 | KERA | Zornitza Stark Marked gene: KERA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Eye Anterior Segment Abnormalities v1.15 | KERA | Zornitza Stark Gene: kera has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Eye Anterior Segment Abnormalities v1.15 | KERA | Krithika Murali Classified gene: KERA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Eye Anterior Segment Abnormalities v1.15 | KERA | Krithika Murali Gene: kera has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Eye Anterior Segment Abnormalities v1.14 | KERA |
Krithika Murali gene: KERA was added gene: KERA was added to Eye Anterior Segment Abnormalities. Sources: Literature Mode of inheritance for gene: KERA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KERA were set to PMID: 32830442; 25967529; 31059048 Phenotypes for gene: KERA were set to Cornea plana 2, autosomal recessive, MIM# 217300 Review for gene: KERA was set to GREEN Added comment: Anterior segmental dysgenesis is associated with this condition. In addition to cornea plana, corneal opacity and microcornea also reported. Sources: Literature |
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| Eye Anterior Segment Abnormalities v0.8 | PAX6 | Zornitza Stark Phenotypes for gene: PAX6 were changed from to Aniridia MIM# 106210; Anterior segment dysgenesis 5, multiple subtypes MIM# 6042293; Cataract with late-onset corneal dystrophy MIM# 106210; Foveal hypoplasia 1 MIM# 136520; Keratitis MIM# 148190; Optic nerve hypoplasia MIM# 165550 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Eye Anterior Segment Abnormalities v0.5 | PAX6 | Teresa Zhao reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 27081561, 20132240, 26899008; Phenotypes: ?Coloboma of optic nerve MIM# 120430, ?Coloboma, ocular MIM# 120200, ?Morning glory disc anomaly MIM# 120430, Aniridia MIM# 106210, Anterior segment dysgenesis 5, multiple subtypes MIM# 6042293, Cataract with late-onset corneal dystrophy MIM# 106210, Foveal hypoplasia 1 MIM# 136520, Keratitis MIM# 148190, Optic nerve hypoplasia MIM# 165550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||