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Severe Paediatric Disorders v1.52 IFT52 Arina Puzriakova Phenotypes for gene: IFT52 were changed from Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 to Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102; Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915
Severe Paediatric Disorders v1.44 TCTEX1D2 Arina Puzriakova Phenotypes for gene: TCTEX1D2 were changed from Short-rib thoracic dysplasia 17 with or without polydactyly, 617405 to Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405; Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565
Severe Paediatric Disorders v0.17 CIC Louise Daugherty Mode of inheritance for gene CIC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.12 CIC Louise Daugherty reviewed gene: CIC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 CIC Louise Daugherty Publications for gene CIC were updated from to 30847515
Severe Paediatric Disorders v0.10 WDR60 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 for gene: WDR60
Severe Paediatric Disorders v0.10 WDR35 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 7 with or without polydactyly, 614091; Cranioectodermal dysplasia 2, 613610 for gene: WDR35
Severe Paediatric Disorders v0.10 WDR34 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 for gene: WDR34
Severe Paediatric Disorders v0.10 WDR19 Louise Daugherty Added phenotypes Senior-Loken syndrome 8, 616307; ?Cranioectodermal dysplasia 4, 614378; Nephronophthisis 13, 614377; ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 for gene: WDR19
Severe Paediatric Disorders v0.10 TTC21B Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 4 with or without polydactyly, 613819; Nephronophthisis 12, 613820 for gene: TTC21B
Severe Paediatric Disorders v0.10 TCTEX1D2 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, 617405 for gene: TCTEX1D2
Severe Paediatric Disorders v0.10 NEK1 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 for gene: NEK1
Severe Paediatric Disorders v0.10 KIAA0586 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 14 with polydactyly, 616546; Joubert syndrome 23, 616490 for gene: KIAA0586
Severe Paediatric Disorders v0.10 INTU Louise Daugherty Added phenotypes ?Short-rib thoracic dysplasia 20 with polydactyly, 617925; ?Orofaciodigital syndrome XVII, 617926 for gene: INTU
Severe Paediatric Disorders v0.10 IFT81 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 19 with or without polydactyly, 617895 for gene: IFT81
Severe Paediatric Disorders v0.10 IFT80 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 for gene: IFT80
Severe Paediatric Disorders v0.10 IFT52 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 for gene: IFT52
Severe Paediatric Disorders v0.10 IFT43 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 18 with polydactyly, 617866; ?Cranioectodermal dysplasia 3, 614099; ?Retinitis pigmentosa 81, 617871 for gene: IFT43
Severe Paediatric Disorders v0.10 IFT172 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 10 with or without polydactyly, 615630; Retinitis pigmentosa 71, 616394 for gene: IFT172
Severe Paediatric Disorders v0.10 IFT140 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, 266920; Retinitis pigmentosa 80, 617781 for gene: IFT140
Severe Paediatric Disorders v0.10 DYNC2LI1 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 15 with polydactyly, 617088 for gene: DYNC2LI1
Severe Paediatric Disorders v0.10 DYNC2H1 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 for gene: DYNC2H1
Severe Paediatric Disorders v0.10 CIC Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 45, 617600 for gene: CIC
Severe Paediatric Disorders v0.10 CEP120 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 13 with or without polydactyly, 616300; Joubert syndrome 31, 617761 for gene: CEP120
Severe Paediatric Disorders v0.10 ACTA2 Louise Daugherty Added phenotypes Multisystemic smooth muscle dysfunction syndrome, 613834; Moyamoya disease 5, 614042; Aortic aneurysm, familial thoracic 6, 611788 for gene: ACTA2
Severe Paediatric Disorders v0.9 WDR60 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 for gene: WDR60
Severe Paediatric Disorders v0.9 WDR35 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 7 with or without polydactyly, 614091; Cranioectodermal dysplasia 2, 613610 for gene: WDR35
Severe Paediatric Disorders v0.9 WDR34 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 for gene: WDR34
Severe Paediatric Disorders v0.9 WDR19 Louise Daugherty Added phenotypes Senior-Loken syndrome 8, 616307; ?Cranioectodermal dysplasia 4, 614378; Nephronophthisis 13, 614377; ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 for gene: WDR19
Severe Paediatric Disorders v0.9 TTC21B Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 4 with or without polydactyly, 613819; Nephronophthisis 12, 613820 for gene: TTC21B
Severe Paediatric Disorders v0.9 TCTEX1D2 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, 617405 for gene: TCTEX1D2
Severe Paediatric Disorders v0.9 NEK1 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 for gene: NEK1
Severe Paediatric Disorders v0.9 KIAA0586 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 14 with polydactyly, 616546; Joubert syndrome 23, 616490 for gene: KIAA0586
Severe Paediatric Disorders v0.9 INTU Louise Daugherty Added phenotypes ?Short-rib thoracic dysplasia 20 with polydactyly, 617925; ?Orofaciodigital syndrome XVII, 617926 for gene: INTU
Severe Paediatric Disorders v0.9 IFT81 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 19 with or without polydactyly, 617895 for gene: IFT81
Severe Paediatric Disorders v0.9 IFT80 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 for gene: IFT80
Severe Paediatric Disorders v0.9 IFT52 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 for gene: IFT52
Severe Paediatric Disorders v0.9 IFT43 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 18 with polydactyly, 617866; ?Cranioectodermal dysplasia 3, 614099; ?Retinitis pigmentosa 81, 617871 for gene: IFT43
Severe Paediatric Disorders v0.9 IFT172 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 10 with or without polydactyly, 615630; Retinitis pigmentosa 71, 616394 for gene: IFT172
Severe Paediatric Disorders v0.9 IFT140 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, 266920; Retinitis pigmentosa 80, 617781 for gene: IFT140
Severe Paediatric Disorders v0.9 DYNC2LI1 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 15 with polydactyly, 617088 for gene: DYNC2LI1
Severe Paediatric Disorders v0.9 DYNC2H1 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 for gene: DYNC2H1
Severe Paediatric Disorders v0.9 CIC Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 45, 617600 for gene: CIC
Severe Paediatric Disorders v0.9 CEP120 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 13 with or without polydactyly, 616300; Joubert syndrome 31, 617761 for gene: CEP120
Severe Paediatric Disorders v0.9 ACTA2 Louise Daugherty Added phenotypes Multisystemic smooth muscle dysfunction syndrome, 613834; Moyamoya disease 5, 614042; Aortic aneurysm, familial thoracic 6, 611788 for gene: ACTA2
Severe Paediatric Disorders v0.9 WDR60 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 for gene: WDR60
Severe Paediatric Disorders v0.9 WDR35 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 7 with or without polydactyly, 614091; Cranioectodermal dysplasia 2, 613610 for gene: WDR35
Severe Paediatric Disorders v0.9 WDR34 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 for gene: WDR34
Severe Paediatric Disorders v0.9 WDR19 Louise Daugherty Added phenotypes Senior-Loken syndrome 8, 616307; ?Cranioectodermal dysplasia 4, 614378; Nephronophthisis 13, 614377; ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 for gene: WDR19
Severe Paediatric Disorders v0.9 TTC21B Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 4 with or without polydactyly, 613819; Nephronophthisis 12, 613820 for gene: TTC21B
Severe Paediatric Disorders v0.9 TCTEX1D2 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, 617405 for gene: TCTEX1D2
Severe Paediatric Disorders v0.9 NEK1 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 for gene: NEK1
Severe Paediatric Disorders v0.9 KIAA0586 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 14 with polydactyly, 616546; Joubert syndrome 23, 616490 for gene: KIAA0586
Severe Paediatric Disorders v0.9 INTU Louise Daugherty Added phenotypes ?Short-rib thoracic dysplasia 20 with polydactyly, 617925; ?Orofaciodigital syndrome XVII, 617926 for gene: INTU
Severe Paediatric Disorders v0.9 IFT81 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 19 with or without polydactyly, 617895 for gene: IFT81
Severe Paediatric Disorders v0.9 IFT80 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 for gene: IFT80
Severe Paediatric Disorders v0.9 IFT52 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 for gene: IFT52
Severe Paediatric Disorders v0.9 IFT43 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 18 with polydactyly, 617866; ?Cranioectodermal dysplasia 3, 614099; ?Retinitis pigmentosa 81, 617871 for gene: IFT43
Severe Paediatric Disorders v0.9 IFT172 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 10 with or without polydactyly, 615630; Retinitis pigmentosa 71, 616394 for gene: IFT172
Severe Paediatric Disorders v0.9 IFT140 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, 266920; Retinitis pigmentosa 80, 617781 for gene: IFT140
Severe Paediatric Disorders v0.9 DYNC2LI1 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 15 with polydactyly, 617088 for gene: DYNC2LI1
Severe Paediatric Disorders v0.9 DYNC2H1 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 for gene: DYNC2H1
Severe Paediatric Disorders v0.9 CIC Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 45, 617600 for gene: CIC
Severe Paediatric Disorders v0.9 CEP120 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 13 with or without polydactyly, 616300; Joubert syndrome 31, 617761 for gene: CEP120
Severe Paediatric Disorders v0.9 ACTA2 Louise Daugherty Added phenotypes Multisystemic smooth muscle dysfunction syndrome, 613834; Moyamoya disease 5, 614042; Aortic aneurysm, familial thoracic 6, 611788 for gene: ACTA2
Severe Paediatric Disorders v0.8 WDR60 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 for gene: WDR60
Severe Paediatric Disorders v0.8 WDR35 Louise Daugherty Added phenotypes Cranioectodermal dysplasia 2, 613610; Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 for gene: WDR35
Severe Paediatric Disorders v0.8 WDR34 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 for gene: WDR34
Severe Paediatric Disorders v0.8 WDR19 Louise Daugherty Added phenotypes ?Cranioectodermal dysplasia 4, 614378; ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376; Senior-Loken syndrome 8, 616307; Nephronophthisis 13, 614377 for gene: WDR19
Severe Paediatric Disorders v0.8 TTC21B Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 4 with or without polydactyly, 613819; Nephronophthisis 12, 613820 for gene: TTC21B
Severe Paediatric Disorders v0.8 TCTEX1D2 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, 617405 for gene: TCTEX1D2
Severe Paediatric Disorders v0.8 NEK1 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 for gene: NEK1
Severe Paediatric Disorders v0.8 KIAA0586 Louise Daugherty Added phenotypes Joubert syndrome 23, 616490; Short-rib thoracic dysplasia 14 with polydactyly, 616546 for gene: KIAA0586
Severe Paediatric Disorders v0.8 INTU Louise Daugherty Added phenotypes ?Short-rib thoracic dysplasia 20 with polydactyly, 617925; ?Orofaciodigital syndrome XVII, 617926 for gene: INTU
Severe Paediatric Disorders v0.8 IFT81 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 19 with or without polydactyly, 617895 for gene: IFT81
Severe Paediatric Disorders v0.8 IFT80 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 for gene: IFT80
Severe Paediatric Disorders v0.8 IFT52 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 for gene: IFT52
Severe Paediatric Disorders v0.8 IFT43 Louise Daugherty Added phenotypes ?Cranioectodermal dysplasia 3, 614099; ?Retinitis pigmentosa 81, 617871; Short-rib thoracic dysplasia 18 with polydactyly, 617866 for gene: IFT43
Severe Paediatric Disorders v0.8 IFT172 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 10 with or without polydactyly, 615630; Retinitis pigmentosa 71, 616394 for gene: IFT172
Severe Paediatric Disorders v0.8 IFT140 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, 266920; Retinitis pigmentosa 80, 617781 for gene: IFT140
Severe Paediatric Disorders v0.8 DYNC2LI1 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 15 with polydactyly, 617088 for gene: DYNC2LI1
Severe Paediatric Disorders v0.8 DYNC2H1 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 for gene: DYNC2H1
Severe Paediatric Disorders v0.8 CIC Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 45, 617600 for gene: CIC
Severe Paediatric Disorders v0.8 CEP120 Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 13 with or without polydactyly, 616300; Joubert syndrome 31, 617761 for gene: CEP120
Severe Paediatric Disorders v0.8 ACTA2 Louise Daugherty Added phenotypes Aortic aneurysm, familial thoracic 6, 611788; Moyamoya disease 5, 614042; Multisystemic smooth muscle dysfunction syndrome, 613834 for gene: ACTA2
Severe Paediatric Disorders v0.8 WDR60 Louise Daugherty Mode of inheritance for gene WDR60 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 for gene: WDR60
Severe Paediatric Disorders v0.8 WDR35 Louise Daugherty Mode of inheritance for gene WDR35 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Short-rib thoracic dysplasia 7 with or without polydactyly, 614091; Cranioectodermal dysplasia 2, 613610 for gene: WDR35
Severe Paediatric Disorders v0.8 WDR34 Louise Daugherty Mode of inheritance for gene WDR34 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 for gene: WDR34
Severe Paediatric Disorders v0.8 WDR19 Louise Daugherty Mode of inheritance for gene WDR19 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Senior-Loken syndrome 8, 616307; ?Cranioectodermal dysplasia 4, 614378; Nephronophthisis 13, 614377; ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 for gene: WDR19
Severe Paediatric Disorders v0.8 TTC21B Louise Daugherty Mode of inheritance for gene TTC21B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Short-rib thoracic dysplasia 4 with or without polydactyly, 613819; Nephronophthisis 12, 613820 for gene: TTC21B
Severe Paediatric Disorders v0.8 TCTEX1D2 Louise Daugherty Mode of inheritance for gene TCTEX1D2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, 617405 for gene: TCTEX1D2
Severe Paediatric Disorders v0.7 CIC Louise Daugherty Source Next Generation Children Project was added to CIC.
Severe Paediatric Disorders v0.5 CIC Louise Daugherty Source Expert Review Green was added to CIC.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 CIC Louise Daugherty gene: CIC was added
gene: CIC was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CIC was set to