| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cataract v0.564 | GNAS | Zornitza Stark Marked gene: GNAS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.564 | GNAS | Zornitza Stark Gene: gnas has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.564 | GNAS | Zornitza Stark Classified gene: GNAS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.564 | GNAS | Zornitza Stark Gene: gnas has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.563 | GNAS |
Zornitza Stark gene: GNAS was added gene: GNAS was added to Cataract. Sources: Literature Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNAS were set to 29136292; 26387561 Phenotypes for gene: GNAS were set to Disorder of GNAS inactivation MONDO:0800466 Review for gene: GNAS was set to GREEN Added comment: PMID 29136292 reports 10 unrelated families with heterozygous loss‑of‑function GNAS variants and cataract in 56% of pseudohypoparathyroidism patients; PMID 26387561 reports 4 unrelated families with GNAS mutations, 2 of which have cataract. Combined, at least 14 unrelated families (20 patients) show cataract associated with pseudohypoparathyroidism. Sources: Literature |
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