KIAA0556

KIAA0556
OMIM: 616650, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Red KIAA0556 in Structural eye disease Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Joubert syndrome 26, OMIM:616784 Joubert syndrome 26, MONDO:0014771
Red KIAA0556 in Rare multisystem ciliopathy disorders Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 1.171	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes ?Joubert syndrome 26 Tags new-gene-name
Red KIAA0556 in Ophthalmological ciliopathies Version 3.6 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders Rare multisystem ciliopathy Super panel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes ?Joubert syndrome 26 Tags new-gene-name
Red KIAA0556 in Neurological ciliopathies Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 3.19 Latest signed off version: v3.0 (22 Mar 2023) 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 Red Phenotypes ?Joubert syndrome 26 Tags new-gene-name
Red KIAA0556 in Renal ciliopathies Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 3.5 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Cystic renal disease Paediatric disorders Rare multisystem ciliopathy Super panel Renal superpanel - broad Renal superpanel - narrow	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes ?Joubert syndrome 26 Tags new-gene-name