| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.4049 | TP63 | Zornitza Stark Phenotypes for gene: TP63 were changed from ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE; ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME; ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3; SPLIT-HAND/FOOT MALFORMATION TYPE 4; ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE; NON-SYNDROMIC OROFACIAL CLEFT TYPE 8; LIMB-MAMMARY 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 v0.4047 | TP63 | Zornitza Stark reviewed gene: TP63: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 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; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2730 | GK | Zornitza Stark Marked gene: GK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2730 | GK | Zornitza Stark Gene: gk has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2730 | GK | Zornitza Stark Phenotypes for gene: GK were changed from GLYCEROL KINASE DEFICIENCY to Glycerol kinase deficiency MIM#307030 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2712 | GK | Ain Roesley reviewed gene: GK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycerol kinase deficiency MIM#307030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2124 | Zornitza Stark removed gene:PGK1 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.64 | AGK | Zornitza Stark Marked gene: AGK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.64 | AGK | Zornitza Stark Gene: agk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.64 | AGK | Zornitza Stark Phenotypes for gene: AGK were changed from SENGERS SYNDROME to Sengers syndrome, MIM#212350 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.63 | AGK | Zornitza Stark edited their review of gene: AGK: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | PGK1 |
Zornitza Stark gene: PGK1 was added gene: PGK1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PGK1 were set to PHOSPHOGLYCERATE KINASE 1 DEFICIENCY |
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| Fetal anomalies v0.0 | GK |
Zornitza Stark gene: GK was added gene: GK was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: GK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: GK were set to 8651297 Phenotypes for gene: GK were set to GLYCEROL KINASE DEFICIENCY |
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| Fetal anomalies v0.0 | TP63 |
Zornitza Stark gene: TP63 was added gene: TP63 was added to Fetal anomalies. Sources: Expert Review Green,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 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE; ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME; ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3; SPLIT-HAND/FOOT MALFORMATION TYPE 4; ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE; NON-SYNDROMIC OROFACIAL CLEFT TYPE 8; LIMB-MAMMARY SYNDROME |
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| Fetal anomalies v0.0 | AGK |
Zornitza Stark gene: AGK was added gene: AGK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGK were set to SENGERS SYNDROME |
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