Genomics England

IFT172

intraflagellar transport 172

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 6.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, SRTD10
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes JEUNE SYNDROME, MAINZER-SALDINO SYNDROME 266920
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MAINZER-SALDINO SYNDROME, JEUNE SYNDROME
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MAINZER-SALDINO SYNDROME
Green in Ophthalmological ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 4.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Retinitis pigmentosa 71, 616394, Short-rib thoracic dysplasia 10 with or without polydactyly, Saldino-Mainzer syndrome, Jeune syndrome, Short-rib thoracic dysplasia 10 with or without polydactyly, 615630
Green in Renal ciliopathies Component of the following Super Panels: - Cystic renal disease - Paediatric disorders - Rare multisystem ciliopathy Super panel - Unexplained young onset end-stage renal disease Signed-off version 3.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Short-rib thoracic dysplasia 10 with or without polydactyly, OMIM:615630
Green in Retinal disorders R-numbers: R32 Signed-off version 6.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Retinitis pigmentosa 71, OMIM:616394, MONDO:0014618
Green in Skeletal ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 5.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Retinitis pigmentosa 71, 616394, Short-rib thoracic dysplasia 10 with or without polydactyly, Saldino-Mainzer syndrome, Jeune syndrome, Short-rib thoracic dysplasia 10 with or without polydactyly, 615630
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 6.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Short-rib thoracic dysplasia 10 with or without polydactyly, 615630, SRTD10