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  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. TP63
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Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: TP63

Green List (high evidence)
TP63 (tumor protein p63)
EnsemblGeneIds (GRCh38): ENSG00000073282
EnsemblGeneIds (GRCh37): ENSG00000073282
OMIM: 603273, Gene2Phenotype
TP63 is in 12 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Premature ovarian failure-21, MIM#620311

Created: 6 Apr 2023, 6:43 a.m.
Last Modified: 6 Apr 2023, 6:43 a.m.
Panel version: 0.309

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 6 cases with nonsyndromic or syndromic POI with CNVs or SNV/small indel truncating variants.
Sources: Literature
Created: 26 Nov 2021, 4:34 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Premature ovarian insufficiency; Limb-mammary syndrome MIM#603543; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 MIM#604292

Publications

Created: 26 Nov 2021, 4:34 a.m.

Panel version: 0.208

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Premature ovarian failure-21, MIM#620311
  • Limb-mammary syndrome MIM#603543
  • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 MIM#604292
Tags
SV/CNV
OMIM
603273
Clinvar variants
Variants in TP63
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Apr 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TP63 were changed from Premature ovarian insufficiency; Limb-mammary syndrome MIM#603543; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 MIM#604292 to Premature ovarian failure-21, MIM#620311; Limb-mammary syndrome MIM#603543; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 MIM#604292

26 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tp63 has been classified as Green List (High Evidence).

26 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tp63 has been classified as Green List (High Evidence).

26 Nov 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TP63 was added gene: TP63 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature SV/CNV tags were added to gene: TP63. Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TP63 were set to 34794894; 17609671; 30924587; 30689869; 32067224 Phenotypes for gene: TP63 were set to Premature ovarian insufficiency; Limb-mammary syndrome MIM#603543; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 MIM#604292 Review for gene: TP63 was set to GREEN