KIAA0586

KIAA0586
OMIM: 610178, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green KIAA0586 in Hydrocephalus Level 2: Neurology Version 5.12 Latest signed off version: v5.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Short-rib thoracic dysplasia 14 with polydactyly, OMIM:616546
Green KIAA0586 in Thoracic dystrophies Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.24	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, SRTD14 #616546
No list KIAA0586 in Limb disorders Level 2: Musculoskeletal Version 7.22 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Victorian Clinical Genetics Services Other Phenotypes Short-rib thoracic dysplasia 14 with polydactyly 616546 Polydactyly Joubert syndrome 23 616490 Tags curated_removed
No list KIAA0586 in Ductal plate malformation Version 1.31	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Radboud University Medical Center, Nijmegen Phenotypes Joubert syndrome 23 (616490) Tags curated_removed
Green KIAA0586 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.181 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes JOUBERT SYNDROME
Green KIAA0586 in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JOUBERT SYNDROME 614615
Green KIAA0586 in Clefting Level 2: Musculoskeletal Version 6.23 Latest signed off version: v6.5 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY SRTD14
Green KIAA0586 in Intellectual disability Level 2: Developmental disorders Version 9.343 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Joubert syndrome 23 616490
Green KIAA0586 in Structural eye disease Level 2: Ophthalmology Version 4.40 Latest signed off version: v4.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Joubert syndrome 23, OMIM:616490 Short-rib thoracic dysplasia 14 with polydactyly, OMIM:616546
Green KIAA0586 in Rare multisystem ciliopathy disorders Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 1.180	review	BIALLELIC, autosomal or pseudoautosomal	Sources Other Expert Review Green Expert list Phenotypes Joubert syndrome Short-rib dysplasia 14 with polydactyly Short-rib thoracic dysplasia 14 with polydactyly Joubert syndrome 23
Green KIAA0586 in Ophthalmological ciliopathies Level 2: Ophthalmology Version 5.15 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Rare multisystem ciliopathy Super panel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Other Phenotypes Joubert syndrome 23 Joubert syndrome Short-rib thoracic dysplasia 14 with polydactyly Short-rib dysplasia 14 with polydactyly
Green KIAA0586 in Neurological ciliopathies Level 2: Neurology Version 6.15 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset Paediatric disorders Rare multisystem ciliopathy Super panel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Joubert syndrome 23 Joubert syndrome Short-rib thoracic dysplasia 14 with polydactyly Short-rib dysplasia 14 with polydactyly
Green KIAA0586 in Renal ciliopathies Level 2: Renal Version 4.11 Latest signed off version: v4.0 (30 Apr 2025) Component of the following Super Panels: Cystic renal disease Paediatric disorders Rare multisystem ciliopathy Super panel Unexplained young onset end-stage renal disease	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Other Phenotypes Joubert syndrome 23 Joubert syndrome Short-rib thoracic dysplasia 14 with polydactyly Short-rib dysplasia 14 with polydactyly
Green KIAA0586 in Skeletal ciliopathies Level 2: Musculoskeletal Version 6.7 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Rare multisystem ciliopathy Super panel	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Short-rib thoracic dysplasia 14 with polydactyly, OMIM:616546 short-rib thoracic dysplasia 14 with polydactyly, MONDO:0014688
Red KIAA0586 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.18 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PanelApp Expert Review Red London North GLH Phenotypes Short-rib dysplasia 14 with polydactyly Short-rib thoracic dysplasia 14 with polydactyly Joubert syndrome 23 Joubert syndrome