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  2. Amelogenesis imperfecta
  3. TP63
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Amelogenesis imperfecta

Gene: TP63

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

A wide range of dental anomalies are reported in TP63-related disorders but single reported of amelogenesis.
Created: 13 Aug 2021, 6:18 a.m. | Last Modified: 13 Aug 2021, 6:18 a.m.
Panel Version: 0.68

Phenotypes
Split-hand/foot malformation 4, MIM# 605289

Publications

Created: 13 Aug 2021, 6:18 a.m.
Last Modified: 13 Aug 2021, 6:18 a.m.
Panel version: 0.68

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Split-hand/foot malformation 4, MIM# 605289
OMIM
603273
Clinvar variants
Variants in TP63
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Aug 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tp63 has been classified as Red List (Low Evidence).

13 Aug 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TP63 were changed from Split hand-split foot-ectodermal dysplasia and amelogenesis imperfecta to Split-hand/foot malformation 4, MIM# 605289

13 Aug 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TP63 were set to

7 May 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TP63 was added gene: TP63 was added to Amelogenesis imperfecta. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TP63 were set to Split hand-split foot-ectodermal dysplasia and amelogenesis imperfecta