Limb disorders
Gene: TP63Comment on mode of inheritance: Changed to imprinted status unknown as reviewer had selected this.Created: 4 Dec 2018, 11:46 a.m.
Comment when marking as ready: Associated with phenotypes in G2P. Numerous variants reported in these phenotypes.Created: 12 Jul 2016, 2:17 p.m.
Tier 2Created: 17 Jun 2016, 8:09 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ULT syndrome 103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292 ; Hay-Wells syndrome 106260; Limb-mammary syndrome 603543; Orofacial cleft 8 129400; Rapp-Hodgkin syndrome 129400; Split-hand/foot malformation 4 605289
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: TP63 were changed from ADULT syndrome, OMIM:103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292; Limb-mammary syndrome, OMIM:603543 to ADULT syndrome, OMIM:103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292; Limb-mammary syndrome, OMIM:603543; Split-hand/foot malformation 4, OMIM:605289
Phenotypes for gene: TP63 were changed from ULT syndrome 103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292; Hay-Wells syndrome 106260; Limb-mammary syndrome 603543; Orofacial cleft 8 129400; Rapp-Hodgkin syndrome 129400; Split-hand/foot malformation 4 605289 to ADULT syndrome, OMIM:103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292; Limb-mammary syndrome, OMIM:603543
Ana Beleza: Tier 2
Mode of inheritance for gene: TP63 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Expert Review Green was added to TP63. Panel: Limb disorders UKGTN was added to TP63. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to TP63. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to TP63. Panel: Limb disorders Expert list was added to TP63. Panel: Limb disorders Emory Genetics Laboratory was added to TP63. Panel: Limb disorders Model of inheritance for gene TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
London South East RGC GSTT was added to TP63. Panel: Limb disorders
TP63 was added to Limb disorders panel. Sources: Viapath
TP63 was created by Ellen McDonagh