| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Differences of Sex Development v0.202 | MKRN3 |
Zornitza Stark Tag SV/CNV tag was added to gene: MKRN3. Tag 5'UTR tag was added to gene: MKRN3. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.202 | MKRN3 | Zornitza Stark Phenotypes for gene: MKRN3 were changed from central precocious puberty to Precocious puberty, central, 2, MIM# 615346 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.201 | MKRN3 | Zornitza Stark Classified gene: MKRN3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.201 | MKRN3 | Zornitza Stark Gene: mkrn3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.197 | MKRN3 | Natasha Brown Marked gene: MKRN3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.197 | MKRN3 | Natasha Brown Gene: mkrn3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.197 | MKRN3 |
Natasha Brown changed review comment from: 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; to: 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.197 | MKRN3 |
Natasha Brown 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 Added comment: 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||