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  3. MKRN3
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Imprinting disorders

Gene: MKRN3

Green List (high evidence)
MKRN3 (makorin ring finger protein 3)
EnsemblGeneIds (GRCh38): ENSG00000179455
EnsemblGeneIds (GRCh37): ENSG00000179455
OMIM: 603856, Gene2Phenotype
MKRN3 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 15 unrelated families reported, note deletions and promoter variants.
Created: 22 Sep 2021, 6:47 a.m. | Last Modified: 22 Sep 2021, 6:47 a.m.
Panel Version: 0.7
Created: 22 Sep 2021, 6:47 a.m.
Last Modified: 22 Sep 2021, 6:47 a.m.
Panel version: 0.7

Anna Le Fevre (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

Phenotypes
Central Precocious Puberty

Publications

Created: 7 Sep 2021, 12:19 p.m.
Last Modified: 7 Sep 2021, 12:19 p.m.
Panel version: 0.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Phenotype resulting from under expression: Precocious Puberty Syndrome
  • Affected tissue: HPA axis
Tags
SV/CNV 5'UTR
OMIM
603856
Clinvar variants
Variants in MKRN3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Sep 2021, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: MKRN3. Tag 5'UTR tag was added to gene: MKRN3.

22 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mkrn3 has been classified as Green List (High Evidence).

22 Sep 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MKRN3 were set to PMID: 23738509; http://igc.otago.ac.nz/home.html; 30794780

6 Aug 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MKRN3 was added gene: MKRN3 was added to Imprinting disorders. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: MKRN3 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Publications for gene: MKRN3 were set to PMID: 23738509; http://igc.otago.ac.nz/home.html; 30794780 Phenotypes for gene: MKRN3 were set to Phenotype resulting from under expression: Precocious Puberty Syndrome; Affected tissue: HPA axis