This Panel is marked as Internal
Genomic imprinting
Gene: MKRN3
MKRN3 (makorin ring finger protein 3)
EnsemblGeneIds (GRCh38): ENSG00000179455
EnsemblGeneIds (GRCh37): ENSG00000179455
OMIM: 603856, Gene2Phenotype
MKRN3 is in 0 panels
EnsemblGeneIds (GRCh38): ENSG00000179455
EnsemblGeneIds (GRCh37): ENSG00000179455
OMIM: 603856, Gene2Phenotype
MKRN3 is in 0 panels
1 review
Ellen McDonagh (Genomics England Curator)
http://www.imprinting-disorders.eu/?page_id=3183. This is (a) gene in imprinted regions, in which point mutations / indels are associated with disease (e.g. CDKN1C)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: Precocious Puberty Syndrome; Affected tissue: HPA axis
Publications
- PMID: 23738509
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: Precocious Puberty Syndrome
- Affected tissue: HPA axis
- OMIM
- 603856
- Clinvar variants
- Variants in MKRN3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
History Filter Activity
22 Dec 2020, Gel status: 3
Added New Source, Set publications
Sarah Leigh (Genomics England Curator)Source Literature was added to MKRN3. Publications for gene MKRN3 were updated from PMID: 23738509 to 30794780; PMID: 23738509; http://igc.otago.ac.nz/home.html
4 May 2017, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
4 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)MKRN3 was created by ellenmcdonagh
4 May 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)MKRN3 was added to Imprinted Genespanel. Sources: Imprinting GeCIP Subdomain