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| Skeletal Dysplasia_Fetal v0.137 | TAB2 | Seb Lunke Marked gene: TAB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.137 | TAB2 | Seb Lunke Gene: tab2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.137 | TAB2 | Seb Lunke Classified gene: TAB2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.137 | TAB2 | Seb Lunke Gene: tab2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.136 | TAB2 |
Belinda Chong gene: TAB2 was added gene: TAB2 was added to Skeletal Dysplasia_Fetal. Sources: Literature Mode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TAB2 were set to 34456334; 36000780 Phenotypes for gene: TAB2 were set to Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like; Congenital heart defects, nonsyndromic, 2 (MIM#614980) Review for gene: TAB2 was set to GREEN gene: TAB2 was marked as current diagnostic Added comment: PMID 36000780 - 3-generation family with caudal appendage and other sacral anomalies, as well as skeletal abnormalities including hypoplasia of iliac wings and scapulae, fusion of the carpal bones, and stenosis of the spinal canal. Sources: Literature |
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