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| Fetal anomalies v0.3996 | WDR19 | Zornitza Stark Phenotypes for gene: WDR19 were changed from CRANIOECTODERMAL DYSPLASIA 4; ASPHYXIATING THORACIC DYSTROPHY 5 to Nephronophthisis 13, MIM# 614377; Senior-Loken syndrome 8, MIM# 616307; Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376; Cranioectodermal dysplasia 4, MIM# 614378 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3910 | GRK2 | Zornitza Stark Phenotypes for gene: GRK2 were changed from Jeune asphyxiating thoracic dystrophy (ATD) to Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3908 | PDIA6 |
Krithika Murali gene: PDIA6 was added gene: PDIA6 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDIA6 were set to 33495992 Phenotypes for gene: PDIA6 were set to Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes Review for gene: PDIA6 was set to AMBER Added comment: No new publications since last PanelApp review. Single case upgraded to Amber on the basis of functional data --- 1 case with asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes. Whole exome sequencing revealed a homozygous frameshift variant in the PDIA6 gene. RNA expression was reduced in a gene dosage‐dependent manner, supporting a loss‐of‐function effect of this variant. Phenotypic correlation with the previously reported mouse model recapitulated the growth defect and delay, early lethality, coagulation, diabetes, immunological, and polycystic kidney disease phenotypes. The phenotype of the current patient is consistent with phenotypes associated with the disruption of PDIA6 and the sensors of UPR in mice and humans. Sources: Literature |
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| Fetal anomalies v0.3908 | GRK2 |
Krithika Murali gene: GRK2 was added gene: GRK2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: GRK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRK2 were set to 33200460 Phenotypes for gene: GRK2 were set to Jeune asphyxiating thoracic dystrophy (ATD) Review for gene: GRK2 was set to AMBER Added comment: 2 unrelated families from a single study reported with supportive functional evidence. Sources: Literature |
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| Fetal anomalies v0.3000 | WDR34 | Seb Lunke Phenotypes for gene: WDR34 were changed from SHORT-RIB POLYDACTYLY SYNDROME TYPE III; SEVERE ASPHYXIATING THORACIC DYSPLASIA to Short-rib thoracic dysplasia 11 with or without polydactyly, MIM# 615633 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2703 | IFT80 | Zornitza Stark Phenotypes for gene: IFT80 were changed from ASPHYXIATING THORACIC DYSTROPHY 2 to Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263; MONDO:0012644 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2364 | TCTEX1D2 | Zornitza Stark Phenotypes for gene: TCTEX1D2 were changed from Jeune asphyxiating thoracic dystrophy; Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565; JATD; Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405 to Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565; JATD; Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1088 | DYNC2H1 | Zornitza Stark Phenotypes for gene: DYNC2H1 were changed from ASPHYXIATING THORACIC DYSTROPHY TYPE 3; SHORT RIB-POLYDACTYLY SYNDROME TYPE 3 to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; MONDO:0013127 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.965 | ASPH | Zornitza Stark Marked gene: ASPH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.965 | ASPH | Zornitza Stark Gene: asph has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.965 | ASPH | Zornitza Stark Publications for gene: ASPH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.964 | ASPH | Zornitza Stark reviewed gene: ASPH: Rating: AMBER; Mode of pathogenicity: None; Publications: 24768550, 30194805, 34018898; Phenotypes: Traboulsi syndrome , MIM#601552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.720 | CSPP1 | Zornitza Stark Phenotypes for gene: CSPP1 were changed from JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY to Joubert syndrome 21, MIM# 615636; MONDO:0014288 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | TCTEX1D2 |
Zornitza Stark gene: TCTEX1D2 was added gene: TCTEX1D2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TCTEX1D2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCTEX1D2 were set to 28475963; 26044572; 25830415 Phenotypes for gene: TCTEX1D2 were set to Jeune asphyxiating thoracic dystrophy; Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565; JATD; Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405 |
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| Fetal anomalies v0.0 | ASPH |
Zornitza Stark gene: ASPH was added gene: ASPH was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ASPH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASPH were set to Traboulsi syndrome, OMIM:601552 |
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| Fetal anomalies v0.0 | WDR34 |
Zornitza Stark gene: WDR34 was added gene: WDR34 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR34 were set to SHORT-RIB POLYDACTYLY SYNDROME TYPE III; SEVERE ASPHYXIATING THORACIC DYSPLASIA |
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| Fetal anomalies v0.0 | WDR19 |
Zornitza Stark gene: WDR19 was added gene: WDR19 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR19 were set to CRANIOECTODERMAL DYSPLASIA 4; ASPHYXIATING THORACIC DYSTROPHY 5 |
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| Fetal anomalies v0.0 | IFT80 |
Zornitza Stark gene: IFT80 was added gene: IFT80 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT80 were set to ASPHYXIATING THORACIC DYSTROPHY 2 |
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| Fetal anomalies v0.0 | DYNC2H1 |
Zornitza Stark gene: DYNC2H1 was added gene: DYNC2H1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DYNC2H1 were set to ASPHYXIATING THORACIC DYSTROPHY TYPE 3; SHORT RIB-POLYDACTYLY SYNDROME TYPE 3 |
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| Fetal anomalies v0.0 | CSPP1 |
Zornitza Stark gene: CSPP1 was added gene: CSPP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSPP1 were set to JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY |
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