Multi locus imprinting disorders
Gene: PLAGL1
Comment on list classification: This gene has been demoted to Amber as it is not appropriate for the NHS clinical indication R417 Multi locus imprinting disorders (https://www.england.nhs.uk/publication/national-genomic-test-directories).Created: 17 Feb 2022, 1:57 p.m. | Last Modified: 17 Feb 2022, 1:57 p.m.
Panel Version: 0.12
Not associated with a phenotype in OMIM, Gen2Phen or MONDO. The literature shows that PLAGL1 is a transcription factor which is subject to imprinting, resulting in the paternal allele being expressed. Transient neonatal diabetes mellitus is seen where there is an excess expression of the paternal allele, such when there is chromosome 6, paternal uniparental isodisomy of chromosome 6 and paternally inherited duplications of chromosome 6q (PMID: 7719335;8842729). These observations are supported by studie in mice (PMID: 16928428; 17084362).Created: 20 Jan 2022, 4:19 p.m. | Last Modified: 20 Jan 2022, 4:19 p.m.
Panel Version: 0.110
Circadian expression reported in CircaDB (http://circadb.hogeneschlab.org/human).Created: 22 Dec 2020, 6:10 p.m. | Last Modified: 22 Dec 2020, 6:10 p.m.
Panel Version: 0.26
Publications
Gene: plagl1 has been classified as Amber List (Moderate Evidence).
gene: PLAGL1 was added gene: PLAGL1 was added to Multi locus imprinting disorders. Sources: Expert Review Green,Literature Mode of inheritance for gene: PLAGL1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Publications for gene: PLAGL1 were set to 16928428; 7719335; 8842729; 11935319; 17084362; 10655556; 30794780; http://igc.otago.ac.nz/home.html Phenotypes for gene: PLAGL1 were set to {Diabetes mellitus, transient neonatal 1} , OMIM:601410