Severe Combined Immunodeficiency (absent T present B cells)
Gene: TP63EnsemblGeneIds (GRCh38): ENSG00000073282
EnsemblGeneIds (GRCh37): ENSG00000073282
OMIM: 603273, Gene2Phenotype
TP63 is in 12 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, MIM# 604292
Publications
Peter McNaughton (Queensland Children's Hospital)
Multiple patients presenting with T cell lymphopaenia, potentially identified on SCID new born screening. T cell lymphopaenia due to thymic defect rather than intrinsic T cell defect so treatment is with thymic transplant rather than HSCT. Should be included in SCID panel as identification of this gene defect in lymphopaenic patients identified on SCID NBS will change treatment pathway dramatically.
Sources: LiteratureCreated: 26 Sep 2024, 12:27 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
lymphopaenia
Publications
- doi: 10.3389/fimmu.2024.1438383
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, MIM# 604292
- lymphopaenia
- OMIM
- 603273
- Clinvar variants
- Variants in TP63
- Penetrance
- None
- Publications
-
- doi: 10.3389/fimmu.2024.1438383
- Panels with this gene
-
- Skeletal dysplasia
- Hair disorders
- Fetal anomalies
- Clefting disorders
- Severe Combined Immunodeficiency (absent T present B cells)
- Amelogenesis imperfecta
- Mendeliome
- Intellectual disability syndromic and non-syndromic
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Desmosomal disorders
- Hand and foot malformations
- Ectodermal Dysplasia
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tp63 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TP63 were changed from lymphopaenia to Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, MIM# 604292; lymphopaenia
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tp63 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Peter McNaughton (Queensland Children's Hospital)gene: TP63 was added gene: TP63 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Literature Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TP63 were set to doi: 10.3389/fimmu.2024.1438383 Phenotypes for gene: TP63 were set to lymphopaenia Review for gene: TP63 was set to GREEN