1. Panels
  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. NANOS3
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Primary Ovarian Insufficiency_Premature Ovarian Failure

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.
Created: 11 Dec 2020, 4:50 a.m. | Last Modified: 11 Dec 2020, 4:50 a.m.
Panel Version: 0.126

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Primary ovarian insufficiency

Publications

Created: 11 Dec 2020, 4:50 a.m.
Last Modified: 11 Dec 2020, 4:50 a.m.
Panel version: 0.126

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genetic Health QLD
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

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: NANOS3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

11 Dec 2020, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: NANOS3 were set to

11 Dec 2020, Gel status: 2

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: NANOS3 were changed from to Primary ovarian insufficiency

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

Bryony Thompson (Royal Melbourne Hospital)

gene: NANOS3 was added gene: NANOS3 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD Mode of inheritance for gene: NANOS3 was set to Unknown