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  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. C14orf39
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Primary Ovarian Insufficiency_Premature Ovarian Failure

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 2 panels

3 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Additional sporadic POF case reported with a homozygous truncating variant, and supporting in vitro functional assays. Now two cases reported with POF and a supporting knockout mouse model.
Created: 29 Nov 2021, 11:21 p.m. | Last Modified: 29 Nov 2021, 11:21 p.m.
Panel Version: 0.242

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Premature ovarian failure 18, MIM# 619203

Publications

Created: 29 Nov 2021, 11:21 p.m.
Last Modified: 29 Nov 2021, 11:21 p.m.
Panel version: 0.242

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Premature ovarian failure 18, MIM# 619203

Created: 26 Feb 2021, 1:09 a.m.
Last Modified: 26 Feb 2021, 1:09 a.m.
Panel version: 0.187

Elena Savva (Victorian Clinical Genetics Services)

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 had ovarian failure
Sources: Literature
Created: 1 Feb 2021, 5:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Premature ovarian insufficiency

Publications

Created: 1 Feb 2021, 5:16 a.m.

Panel version: 0.186

Details

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

History Filter Activity

29 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

26 Feb 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Feb 2021, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

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