IFT74

intraflagellar transport 74
OMIM: 608040, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green IFT74 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.223	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Jeune syndrome (MONDO:0018770), IFT74-related
Green IFT74 in Bardet Biedl syndrome Level 2: Dysmorphic and congenital abnormality syndromes Version 1.10 Component of the following Super Panels: Retinal Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Bardet-Biedl syndrome 20, MIM# 617119
Green IFT74 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.418	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Jeune syndrome (MONDO:0018770), IFT74-related
Green IFT74 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.54	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Bardet-Biedl syndrome 20, MIM# 617119 Joubert syndrome 40, MIM# 619582
Green IFT74 in Joubert syndrome and other neurological ciliopathies Level 2: Neurology and neurodevelopmental disorders Version 1.27	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 40, MIM# 619582
Green IFT74 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Bardet-Biedl syndrome 20, MIM# 617119 Joubert syndrome 40, MIM# 619582 Spermatogenic failure 58, MIM# 619585
Green IFT74 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 Green Literature Phenotypes Jeune syndrome (MONDO:0018770), IFT74-related
Green IFT74 in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 1.22 Component of the following Super Panels: Kidneyome_SuperPanel Renal Cystic Disease_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature KidGen_CilioNephronop v38.1.0 Phenotypes Bardet-Biedl syndrome 20 617119
Green IFT74 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Bardet-Biedl syndrome 20, MIM# 617119 Joubert syndrome 40, MIM# 619582 Spermatogenic failure 58, MIM# 619585
Green IFT74 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Jeune syndrome (MONDO:0018770), IFT74-related
Green IFT74 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Bardet-Biedl syndrome 22 - MIM#617119 Joubert syndrome 40 - MIM#619582
Green IFT74 in Severe early-onset obesity Level 2: Endocrine disorders Version 1.10	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Bardet-Biedl syndrome 20, MIM# 617119