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  3. YTHDC2
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Primary ovarian insufficiency

Gene: YTHDC2

Red List (low evidence)
YTHDC2 (YTH domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000047188
EnsemblGeneIds (GRCh37): ENSG00000047188
OMIM: 616530, Gene2Phenotype
YTHDC2 is in 1 panel

2 reviews

Ivone Leong (Genomics England Curator)

Comment on publications: Added new publication submitted by Andrey Gagunashvili. PMID:35138268
Created: 22 Feb 2022, 8:41 a.m. | Last Modified: 22 Feb 2022, 8:41 a.m.
Panel Version: 1.64
Comment on list classification: New gene added by Andrey Gagunashvili (UCL Great Ormond Street Institute of Child Health). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There currently does not appear to be any human cases associated with this gene therefore this gene has been given a Red rating.
Created: 28 Sep 2021, 10:55 a.m. | Last Modified: 28 Sep 2021, 10:55 a.m.
Panel Version: 1.48
Created: 28 Sep 2021, 10:55 a.m.
Last Modified: 28 Sep 2021, 10:55 a.m.
Panel version: 1.48

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

Red List (low evidence)

One more reference on association of YTHDC2 with primary ovarian insufficiency was added
Created: 15 Feb 2022, 4:26 p.m. | Last Modified: 15 Feb 2022, 4:26 p.m.
Panel Version: 1.63
Sources: Literature, Research
Created: 26 Sep 2021, 2:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Premature ovarian insufficiency; female infertility; absent puberty; primary amenorrhea

Publications

Created: 26 Sep 2021, 2:12 p.m.

Panel version: 1.63

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Premature ovarian insufficiency
  • female infertility
  • absent puberty
  • primary amenorrhea
OMIM
616530
Clinvar variants
Variants in YTHDC2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2022, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: YTHDC2 were set to 29033321; 29360036

28 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ythdc2 has been classified as Red List (Low Evidence).

26 Sep 2021, Gel status: 0

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

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

gene: YTHDC2 was added gene: YTHDC2 was added to Primary ovarian insufficiency. Sources: Literature,Research Mode of inheritance for gene: YTHDC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YTHDC2 were set to 29033321; 29360036 Phenotypes for gene: YTHDC2 were set to Premature ovarian insufficiency; female infertility; absent puberty; primary amenorrhea Penetrance for gene: YTHDC2 were set to Complete Review for gene: YTHDC2 was set to RED