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Mendeliome

Gene: NANOS3

Amber List (moderate evidence)
NANOS3 (nanos C2HC-type zinc finger 3)
EnsemblGeneIds (GRCh38): ENSG00000187556
EnsemblGeneIds (GRCh37): ENSG00000187556
OMIM: 608229, Gene2Phenotype
NANOS3 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A homozygous missense (p.Glu120Lys) was identified in two Brazillian sisters with primary amenorrhea, and supporting in vitro functional assays. A heterozygous missense (p.Arg153Trp) was identified in a Chinese woman with POI, with supporting in vitro functional assays. Also, supporting null mouse model.
Sources: Literature
Created: 11 Dec 2020, 5:36 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Primary ovarian insufficiency

Publications

Created: 11 Dec 2020, 5:36 a.m.

Panel version: 0.5646

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Primary ovarian insufficiency
OMIM
608229
Clinvar variants
Variants in NANOS3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: nanos3 has been classified as Amber List (Moderate Evidence).

11 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: nanos3 has been classified as Amber List (Moderate Evidence).

11 Dec 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: NANOS3 was added gene: NANOS3 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: NANOS3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NANOS3 were set to 25054146; 24091668 Phenotypes for gene: NANOS3 were set to Primary ovarian insufficiency Review for gene: NANOS3 was set to AMBER