KIAA0556

KIAA0556
OMIM: 616650, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Amber KIAA0556 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Joubert syndrome 26, OMIM:616784 Joubert syndrome 26, MONDO:0014771 Tags new-gene-name Q3_25_promote_green Q3_25_expert_review
Amber KIAA0556 in Intellectual disability Level 2: Developmental disorders Version 9.285 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 Amber Literature ClinGen Phenotypes Joubert syndrome 26, OMIM:616784 Joubert syndrome 26, MONDO:0014771 Tags Q3_25_promote_green new-gene-name
Red KIAA0556 in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Joubert syndrome 26, OMIM:616784 Joubert syndrome 26, MONDO:0014771 Tags new-gene-name
Red KIAA0556 in Rare multisystem ciliopathy disorders Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 1.180	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes Joubert syndrome 26, OMIM:616784 Joubert syndrome 26, MONDO:0014771 Tags new-gene-name
Amber KIAA0556 in Ophthalmological ciliopathies Level 2: Ophthalmology Version 5.11 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 Amber Other Phenotypes Joubert syndrome 26, OMIM:616784 Joubert syndrome 26, MONDO:0014771 Tags new-gene-name Q3_25_promote_green
Amber KIAA0556 in Neurological ciliopathies Level 2: Neurology Version 6.13 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 Amber Phenotypes Joubert syndrome 26, OMIM:616784 Joubert syndrome 26, MONDO:0014771 Tags new-gene-name Q3_25_promote_green
Red KIAA0556 in Renal ciliopathies Level 2: Renal Version 4.7 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 Red Other Phenotypes Joubert syndrome 26, OMIM:616784 Joubert syndrome 26, MONDO:0014771 Tags new-gene-name