1. Panels
  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. CCDC141
STRs in panel
Prev Next
Regions in panel
Prev Next

Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: CCDC141

Amber List (moderate evidence)
CCDC141 (coiled-coil domain containing 141)
EnsemblGeneIds (GRCh38): ENSG00000163492
EnsemblGeneIds (GRCh37): ENSG00000163492
OMIM: 616031, Gene2Phenotype
CCDC141 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A consanguineous family had a homozygous nonsense variant, but also had a homozygous missense in FEZF1. 3 other families reported with heterozygous variants, but other variants in other genes present. In an olfactory mouse model, Ccdc141 is expressed in GnRH neurons and olfactory fibers and that knockdown of Ccdc141 reduces GnRH neuronal migration.
Sources: Literature
Created: 5 Oct 2020, 2:05 a.m.

Mode of inheritance
Unknown

Phenotypes
Anosmic hypogonadotropic hypogonadism

Publications

Created: 5 Oct 2020, 2:05 a.m.

Panel version: 0.45

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Anosmic hypogonadotropic hypogonadism
OMIM
616031
Clinvar variants
Variants in CCDC141
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ccdc141 has been classified as Amber List (Moderate Evidence).

5 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ccdc141 has been classified as Amber List (Moderate Evidence).

5 Oct 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CCDC141 was added gene: CCDC141 was added to Amenorrhoea. Sources: Literature Mode of inheritance for gene: CCDC141 was set to Unknown Publications for gene: CCDC141 were set to 27014940; 28324054; 25192046 Phenotypes for gene: CCDC141 were set to Anosmic hypogonadotropic hypogonadism Review for gene: CCDC141 was set to AMBER