Primary ovarian insufficiency
Gene: TP63EnsemblGeneIds (GRCh38): ENSG00000073282
EnsemblGeneIds (GRCh37): ENSG00000073282
OMIM: 603273, Gene2Phenotype
TP63 is in 15 panels
1 review
Aleš Maver (Clinical Institute of Medical Genetics)
This gene is a well-established monogenic cause of POI:
https://www.omim.org/entry/620311
Sources: LiteratureCreated: 23 Sep 2024, 1:51 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Premature ovarian insufficiency
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Phenotypes
-
- Premature ovarian insufficiency
- OMIM
- 603273
- Clinvar variants
- Variants in TP63
- Penetrance
- unknown
- Publications
- Panels with this gene
-
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Limb disorders
- DDG2P
- Primary ovarian insufficiency
- Intellectual disability
- Ectodermal dysplasia
- Clefting
- Epidermolysis bullosa and congenital skin fragility
- Amelogenesis imperfecta
- Ectodermal dysplasia without a known gene mutation
- Mosaic skin disorders - deep sequencing
- Peeling skin syndrome
- Fetal anomalies
- Skeletal dysplasia
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Aleš Maver (Clinical Institute of Medical Genetics)gene: TP63 was added gene: TP63 was added to Primary ovarian insufficiency. Sources: Literature Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TP63 were set to PMID: 36856110; 35801529; 30924587 Phenotypes for gene: TP63 were set to Premature ovarian insufficiency Penetrance for gene: TP63 were set to unknown Review for gene: TP63 was set to GREEN gene: TP63 was marked as current diagnostic