IFT74

intraflagellar transport 74
OMIM: 608040, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Red IFT74 in Limb disorders Level 2: Musculoskeletal Version 7.20 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes ?Bardet-Biedl syndrome 20 617119
Green IFT74 in Bardet Biedl syndrome Level 2: Ophthalmology Version 2.9 Latest signed off version: v2.0 (30 Nov 2022)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes ?Bardet-Biedl syndrome 20, 617119
Red IFT74 in Respiratory ciliopathies including non-CF bronchiectasis Level 2: Respiratory Version 4.55 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Phenotypes primary ciliary dyskinesia, MONDO:0016575
Green IFT74 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 Green NHS GMS Phenotypes Bardet-Biedl syndrome 22, OMIM:617119 Joubert syndrome 40, OMIM:619582
Green IFT74 in DDG2P Version 6.424 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 IFT74-associated ciliopathy, OMIM:617119
Green IFT74 in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes ?Bardet-Biedl syndrome 20, OMIM:617119
Green IFT74 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 Green Other Phenotypes ?Bardet-Biedl syndrome 20, 617119
Green IFT74 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 Green Other Phenotypes ?Bardet-Biedl syndrome 20, 617119
Green IFT74 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 NHS GMS Expert Review Green Literature Phenotypes Joubert syndrome 40, OMIM:619582 Joubert syndrome 40, MONDO:0030462
Red IFT74 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 ?Bardet-Biedl syndrome 20, 617119
No list IFT74 in Skeletal ciliopathies Level 2: Musculoskeletal Version 6.5 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 Expert Review Removed Other Phenotypes ?Bardet-Biedl syndrome 20, 617119 Tags curated_removed