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| Eye Anterior Segment Abnormalities v1.13 | POMK | Zornitza Stark Marked gene: POMK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Eye Anterior Segment Abnormalities v1.13 | POMK | Zornitza Stark Gene: pomk has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Eye Anterior Segment Abnormalities v1.13 | POMK |
Zornitza Stark gene: POMK was added gene: POMK was added to Eye Anterior Segment Abnormalities. Sources: Literature Mode of inheritance for gene: POMK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POMK were set to 40011789 Phenotypes for gene: POMK were set to Anterior segment dysgenesis, MONDO:0019503, POMK-related Review for gene: POMK was set to RED Added comment: 3 individuals with anterior segment dysgenesis and mono allelic variants in POMK identified. However, note variants are inherited with insufficient segregation evidence and/or present in gnomAD. Although there is supportive animal model evidence, note that biallelic POMK disease does comprise eye phenotypes. Sources: Literature |
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