Activity
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5 actions
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| Mendeliome v0.6541 | DLK1 | Zornitza Stark Marked gene: DLK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6541 | DLK1 | Zornitza Stark Gene: dlk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6541 | DLK1 | Zornitza Stark Classified gene: DLK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6541 | DLK1 | Zornitza Stark Gene: dlk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6540 | DLK1 |
Zornitza Stark gene: DLK1 was added gene: DLK1 was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: DLK1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Publications for gene: DLK1 were set to 28324015; 30462238 Phenotypes for gene: DLK1 were set to central precocious puberty Review for gene: DLK1 was set to GREEN Added comment: PMID: 30462238 "three frameshift mutations of DLK1 (p.Gly199Alafs*11, p.Val271Cysfs*14, and p.Pro160Leufs*50) in five women from three families with CPP. Segregation analysis was consistent with the maternal imprinting of DLK1". PMID: 28324015 single large family, only affected females, central precocious puberty all carrying paternally inherited LOF variant (del/dup of 5'UTR and exon 1) absent DLK1 expression in all affected. Unclear if males affected as none reported to date. Sources: Expert Review |
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