Genomics England

KIAA0586

Panel	Mode of inheritance	Details
Filter panels10 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 14 WITH POLYDACTYLY, SRTD14
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes JOUBERT SYNDROME 614615
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes JOUBERT SYNDROME
Green in Hydrocephalus R-numbers: R86 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Short-rib thoracic dysplasia 14 with polydactyly, OMIM:616546
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 Joubert syndrome 23 616490
Green in Neurological ciliopathies Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 4.10	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 23, Joubert syndrome, Short-rib thoracic dysplasia 14 with polydactyly, Short-rib dysplasia 14 with polydactyly
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 Joubert syndrome 23, Joubert syndrome, Short-rib thoracic dysplasia 14 with polydactyly, Short-rib dysplasia 14 with polydactyly
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 Joubert syndrome 23, Joubert syndrome, Short-rib thoracic dysplasia 14 with polydactyly, Short-rib dysplasia 14 with polydactyly
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 Short-rib thoracic dysplasia 14 with polydactyly, OMIM:616546, short-rib thoracic dysplasia 14 with polydactyly, MONDO:0014688
Green in Structural eye disease R-numbers: R36 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 23, OMIM:616490, Short-rib thoracic dysplasia 14 with polydactyly, OMIM:616546