KIAA0586

KIAA0586
OMIM: 610178, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green KIAA0586 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.230	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Other Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Phenotypes Joubert syndrome 23 MIM#616490 Short-rib thoracic dysplasia 14 with polydactyly MIM#616546
Green KIAA0586 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.62	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Joubert syndrome 23 616490 Short-rib thoracic dysplasia 14 with polydactyly 616546 Tags new gene name
Green KIAA0586 in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 0.127	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red KIAA0586 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.324	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes Hydrolethalus short rib polydactyly
Green KIAA0586 in Joubert syndrome and other neurological ciliopathies Level 2: Neurology and neurodevelopmental disorders Version 1.28	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 23 616490 Short-rib thoracic dysplasia 14 with polydactyly 616546 Tags new gene name
Green KIAA0586 in Mendeliome Version 1.2374	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Joubert syndrome 23, MIM# 616490 Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546
Green KIAA0586 in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.281 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green
Amber KIAA0586 in Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Level 2: Skeletal disorders Version 1.15	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546
Red KIAA0586 in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 1.26 Component of the following Super Panels: Kidneyome_SuperPanel Renal Cystic Disease_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546 Joubert syndrome 23, MIM# 616490
Green KIAA0586 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.540	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green KIAA0586 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Joubert syndrome 23 MIM#616490 Tags new gene name
Green KIAA0586 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.305	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 23 MIM#616490 Short-rib thoracic dysplasia 14 with polydactyly MIM#616546
Green KIAA0586 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3), Autosomal recessive
Green KIAA0586 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.260	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SRTD14 SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY
Green KIAA0586 in Fetal anomalies Version 1.314	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Other Victorian Clinical Genetics Services Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Phenotypes Joubert syndrome 23 616490 Short-rib thoracic dysplasia 14 with polydactyly 616546 Hydrolethalus
Green KIAA0586 in Prepair 1000+ Level 2: Screening Version 1.1586	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short-rib thoracic dysplasia 14 with polydactyly (MIM#616546) Joubert syndrome 23 (MIM#616490)