| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Severe hypertriglyceridaemia v1.13 | CREB3L3 | Arina Puzriakova Phenotypes for gene: CREB3L3 were changed from monogenic dominant hypertriglyceridemia associated with CREB3L3 to Hypertriglyceridemia 2, OMIM:619324 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe hypertriglyceridaemia v1.10 | CREB3L3 | Sarah Leigh Classified gene: CREB3L3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe hypertriglyceridaemia v1.10 | CREB3L3 | Sarah Leigh Gene: creb3l3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe hypertriglyceridaemia v1.9 | CREB3L3 |
Sarah Leigh gene: CREB3L3 was added gene: CREB3L3 was added to Severe hypertriglyceridaemia. Sources: Literature Mode of inheritance for gene: CREB3L3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CREB3L3 were set to 29954705; 21666694; 26427795; 22135386 Phenotypes for gene: CREB3L3 were set to monogenic dominant hypertriglyceridemia associated with CREB3L3 Review for gene: CREB3L3 was set to GREEN Added comment: Not associated with phenotype in OMIM (last updated in 02/06/2015) or in Gen2Phen. At least three terminating variants have been identified in unrelated cases, together with supportive functional studies Sources: Literature |
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