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  3. C14orf39
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Primary ovarian insufficiency

Gene: C14orf39

Green List (high evidence)
C14orf39 (chromosome 14 open reading frame 39)
EnsemblGeneIds (GRCh38): ENSG00000179008
EnsemblGeneIds (GRCh37): ENSG00000179008
OMIM: 617307, Gene2Phenotype
C14orf39 is in 1 panel

3 reviews

Andrey Gagunashvili (UCL Great Ormond Street Institute of Child Health)

Another publication supporting the association of the C14orf39 with premature ovarian insufficiency
Created: 23 Nov 2021, 11:51 a.m. | Last Modified: 23 Nov 2021, 11:51 a.m.
Panel Version: 1.55

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Premature ovarian failure

Publications

Created: 23 Nov 2021, 11:51 a.m.
Last Modified: 23 Nov 2021, 11:51 a.m.
Panel version: 1.55

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from Amber to Green. There is now enough evidence to support a gene-disease association (2 cases + 1 animal model). This gene has been promoted to Green.
Created: 30 Nov 2021, 9:02 a.m. | Last Modified: 30 Nov 2021, 9:02 a.m.
Panel Version: 1.57
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.
Created: 13 May 2021, 2:16 p.m. | Last Modified: 13 May 2021, 2:16 p.m.
Panel Version: 1.25
Created: 13 May 2021, 2:16 p.m.
Last Modified: 13 May 2021, 2:16 p.m.
Panel version: 1.25

Zornitza Stark (Australian Genomics)

I don't know

PMID: 33508233
- 1 family with two males (azoospermia) and 1 female (premature ovarian insufficiency) with a homozygous PTC

PMID: 27796301
- Mouse K/O with ovarian failure
Sources: Literature
Created: 1 Feb 2021, 10:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Premature ovarian insufficiency

Publications

Created: 1 Feb 2021, 10:47 a.m.

Panel version: 1.19

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ?Premature ovarian failure 18, OMIM:619203
OMIM
617307
Clinvar variants
Variants in C14orf39
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: c14orf39 has been classified as Green List (High Evidence).

30 Nov 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: C14orf39 were set to 33508233; 27796301

13 May 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: c14orf39 has been classified as Amber List (Moderate Evidence).

13 May 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: C14orf39 were changed from Premature ovarian insufficiency to ?Premature ovarian failure 18, OMIM:619203

1 Feb 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: C14orf39 was added gene: C14orf39 was added to Primary ovarian insufficiency. Sources: Literature Mode of inheritance for gene: C14orf39 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C14orf39 were set to 33508233; 27796301 Phenotypes for gene: C14orf39 were set to Premature ovarian insufficiency Review for gene: C14orf39 was set to AMBER