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Differences of Sex Development

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

1 review

Natasha Brown (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 23738509: four (3fs; 1missense) novel heterozygous mutations in MKRN3, in 5 of the 15 families; both sexes were affected; mouse model confirms low expression.
PMID: 31687022 4 novel missense, c.1138G > A (p.Glu380Lys), c.1420T > A (p.Leu474Met), c.673C > G (p.Leu225Val), and c.1071C > G (p.Ile357Met) in two sporadic cases and three familial cases. ACMG: (p.Glu380Lys and p.Ile357Met) = LP, but (p.Leu474Met) (p.Leu225Val) are VUS.
PMID: 31636607 3 novel promotor variants found in 6 unrelated females; significant reduction of MKRN3 promoter activity using luciferase assays.
PMID: 32480405 - 2 females with whole gene deletions of MKRN3
PMID: 31041429 systematic review/meta analysis: "Patients with MKRN3 mutations presented with signs and symptoms of early reactivation of the hypothalamic-pituitary-gonadal axis, represented by precocious development of sexual characteristics, BA advancement, and pubertal levels of basal or poststimulated LH"
Sources: Literature
Created: 4 Mar 2021, 3:26 a.m. | Last Modified: 4 Mar 2021, 3:29 a.m.
Panel Version: 0.197

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

Phenotypes
central precocious puberty

Publications

Created: 4 Mar 2021, 3:26 a.m.
Last Modified: 4 Mar 2021, 3:29 a.m.
Panel version: 0.197

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
Phenotypes
  • Precocious puberty, central, 2, MIM# 615346
Tags
SV/CNV 5'UTR
OMIM
603856
Clinvar variants
Variants in MKRN3
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

4 Mar 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.

4 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MKRN3 were changed from central precocious puberty to Precocious puberty, central, 2, MIM# 615346

4 Mar 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).

4 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Natasha Brown (Victorian Clinical Genetics Services)

Gene: mkrn3 has been classified as Red List (Low Evidence).

4 Mar 2021, Gel status: 1

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

Natasha Brown (Victorian Clinical Genetics Services)

gene: MKRN3 was added gene: MKRN3 was added to Differences of Sex Development. Sources: Literature 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: 31687022; 31041429; 31636607; 32480405 Phenotypes for gene: MKRN3 were set to central precocious puberty Penetrance for gene: MKRN3 were set to unknown Review for gene: MKRN3 was set to GREEN