| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Growth failure v0.241 | FAM111A | Zornitza Stark Marked gene: FAM111A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.241 | FAM111A | Zornitza Stark Gene: fam111a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.241 | FAM111A | Zornitza Stark Classified gene: FAM111A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.241 | FAM111A | Zornitza Stark Gene: fam111a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.240 | FAM111A |
Zornitza Stark gene: FAM111A was added gene: FAM111A was added to Growth failure in early childhood. Sources: Expert Review Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FAM111A were set to 32996714; 23684011 Phenotypes for gene: FAM111A were set to Kenny-Caffey syndrome, type 2, MIM@ 127000 Review for gene: FAM111A was set to GREEN Added comment: Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities including microphthalmia/nanophthalmos, and transient hypocalcemia. Note monoallelic variants in this gene are also associated with gracile bone dysplasia, but this is generally perinatal lethal. Sources: Expert Review |
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