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  3. NUP107
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Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: NUP107

Green List (high evidence)
NUP107 (nucleoporin 107)
EnsemblGeneIds (GRCh38): ENSG00000111581
EnsemblGeneIds (GRCh37): ENSG00000111581
OMIM: 607617, Gene2Phenotype
NUP107 is in 7 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

4 affected females from a large consanguineous Palestinian family with ovarian dysgenesis segregated a homozygous missense (D447N), and 2 sisters with primary amenorrhea and HH from a nonconsanguienous family with a homozygous missense (R335C). Also, supporting null mouse and drosophila models with ovarian dysfunction.
Created: 11 Dec 2020, 1:25 a.m. | Last Modified: 11 Dec 2020, 1:25 a.m.
Panel Version: 0.71

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ovarian dysgenesis 6 MIM#618078; primary amenorrhea; hypogonadotrophic hypogonadism

Publications

Created: 11 Dec 2020, 1:25 a.m.
Last Modified: 11 Dec 2020, 1:25 a.m.
Panel version: 0.71

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Autosomal recessive disorder characterised by developmental delay, microcephaly (-5 to -9 SD), and early-onset nephrotic syndrome. Approx 10 families reported. Recurrent variant p.Met101Ile identified in several families, likely represents a South Asian founder allele.
Created: 31 Aug 2020, 11:56 a.m. | Last Modified: 31 Aug 2020, 11:56 a.m.
Panel Version: 0.4042

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galloway-Mowat syndrome 7, MIM# 618348

Publications

Created: 31 Aug 2020, 11:56 a.m.
Last Modified: 31 Aug 2020, 11:56 a.m.
Panel version: Imported from Mendeliome panel version 0.4042

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health QLD
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Ovarian dysgenesis 6 MIM#618078
  • primary amenorrhea
  • hypogonadotrophic hypogonadism
OMIM
607617
Clinvar variants
Variants in NUP107
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: nup107 has been classified as Green List (High Evidence).

11 Dec 2020, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: NUP107 were changed from to Ovarian dysgenesis 6 MIM#618078; primary amenorrhea; hypogonadotrophic hypogonadism

11 Dec 2020, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: NUP107 were set to

11 Dec 2020, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: NUP107 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

11 Dec 2020, Gel status: 3

Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Source Genetic Health QLD was added to NUP107. Mode of inheritance for gene NUP107 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown

17 Jun 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

gene: NUP107 was added gene: NUP107 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: NUP107 was set to BIALLELIC, autosomal or pseudoautosomal