Activity

Filter

Cancel
Date Panel Item Activity
11 actions
Fetal anomalies v3.109 TP63 Arina Puzriakova Phenotypes for gene: TP63 were changed from ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE; ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3; SPLIT-HAND/FOOT MALFORMATION TYPE 4; ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE; LIMB-MAMMARY SYNDROME; NON-SYNDROMIC OROFACIAL CLEFT TYPE 8; ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME to ADULT syndrome, OMIM:103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292; Hay-Wells syndrome, OMIM:106260; Limb-mammary syndrome, OMIM:603543; Orofacial cleft 8, OMIM:618149; Rapp-Hodgkin syndrome, OMIM:129400; Split-hand/foot malformation 4, OMIM:605289
Fetal anomalies v0.161 TP63 Rebecca Foulger edited their review of gene: TP63: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.9 TP63 Rebecca Foulger commented on gene: TP63: DDG2P rating in original PAGE list: Confirmed for ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3, Confirmed for SPLIT-HAND/FOOT MALFORMATION TYPE 4, Confirmed for ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE, Confirmed for NON-SYNDROMIC OROFACIAL CLEFT TYPE 8, Confirmed for ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE, Confirmed for ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME and Confirmed for LIMB-MAMMARY SYNDROME.
Fetal anomalies v0.3 TP63 Rebecca Foulger reviewed gene: TP63: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 TP63 Rebecca Foulger Added phenotypes LIMB-MAMMARY SYNDROME for gene: TP63
Fetal anomalies v0.1 TP63 Rebecca Foulger Added phenotypes ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME for gene: TP63
Fetal anomalies v0.1 TP63 Rebecca Foulger Added phenotypes ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE for gene: TP63
Fetal anomalies v0.1 TP63 Rebecca Foulger Added phenotypes NON-SYNDROMIC OROFACIAL CLEFT TYPE 8 for gene: TP63
Fetal anomalies v0.1 TP63 Rebecca Foulger Added phenotypes ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE for gene: TP63
Fetal anomalies v0.1 TP63 Rebecca Foulger Added phenotypes SPLIT-HAND/FOOT MALFORMATION TYPE 4 for gene: TP63
Fetal anomalies v0.1 TP63 Rebecca Foulger gene: TP63 was added
gene: TP63 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TP63 were set to ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3