Genomic imprinting
Gene: L3MBTL1EnsemblGeneIds (GRCh38): ENSG00000185513
EnsemblGeneIds (GRCh37): ENSG00000185513
OMIM: 608802, Gene2Phenotype
L3MBTL1 is in 0 panels
1 review
Ellen McDonagh (Genomics England Curator)
http://omim.org/entry/608802?search=l3mbtl&highlight=l3mbtl. This is a (b) gene for which alteration of effective copy number is associated with disease (though mutations in the transcript are currently not identified)Created: 4 May 2017, 2:37 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes
Phenotype resulting from under expression: lymphoid malignancy; Affected tissue: myeloid lineages
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
- Sources
-
- Literature
- Expert Review Green
- Imprinting GeCIP Subdomain
- Phenotypes
-
- Phenotype resulting from under expression: lymphoid malignancy
- Affected tissue: myeloid lineages
- OMIM
- 608802
- Clinvar variants
- Variants in L3MBTL1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
History Filter Activity
Added New Source, Set publications
Sarah Leigh (Genomics England Curator)Source Literature was added to L3MBTL1. Publications for gene L3MBTL1 were updated from PMID: 15123827; 23543057 to 23543057; 30794780; PMID: 15123827; http://igc.otago.ac.nz/home.html
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Changed Gene Name
Ellen McDonagh (Genomics England Curator)L3MBTL* was changed to L3MBTL1
Created
Ellen McDonagh (Genomics England Curator)L3MBTL* was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)L3MBTL* was added to Imprinted Genespanel. Sources: Imprinting GeCIP Subdomain