Primary ovarian insufficiency
Gene: C14orf39Another publication supporting the association of the C14orf39 with premature ovarian insufficiencyCreated: 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
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
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: LiteratureCreated: 1 Feb 2021, 10:47 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Premature ovarian insufficiency
Publications
Gene: c14orf39 has been classified as Green List (High Evidence).
Publications for gene: C14orf39 were set to 33508233; 27796301
Gene: c14orf39 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: C14orf39 were changed from Premature ovarian insufficiency to ?Premature ovarian failure 18, OMIM:619203
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