Genomic imprinting
Gene: DLK1
PMID: 30462238: three frameshift variants in 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.Created: 5 Mar 2021, 6:42 a.m. | Last Modified: 5 Mar 2021, 6:42 a.m.
Panel Version: 0.94
Phenotypes
central precocious puberty
Publications
PiRNAs (Piwi-interacting RNAs) at 14q32 (DLK1-MEG3(GTL2)) are homologous with several human 14q(I) and 14(II) C/D RNA sequences (PMID 18271756)(http://igc.otago.ac.nz).Created: 22 Dec 2020, 6:10 p.m. | Last Modified: 22 Dec 2020, 6:10 p.m.
Panel Version: 0.26
Publications for gene: DLK1 were set to 30794780; 18271756; http://igc.otago.ac.nz/home.html
gene: DLK1 was added gene: DLK1 was added to Imprinted Genes. Sources: Literature 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 30794780; 18271756; http://igc.otago.ac.nz/home.html