IFT56

intraflagellar transport 56
OMIM: 617453, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green IFT56 in Cholestasis Level 2: Gastroenterological disorders Version 2.0 Component of the following Super Panels: Liverome Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534 Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations
Green IFT56 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534 Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations
Green IFT56 in Mendeliome Version 2.50	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534 Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations
Green IFT56 in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 2.0 Component of the following Super Panels: Kidneyome_SuperPanel Renal Cystic Disease_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534 Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations
Red IFT56 in Pituitary hormone deficiency Level 3: Pituitary disorders Level 2: Endocrine disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Literature Phenotypes biliary, renal, neurologic, and skeletal syndrome, MONDO:0859191
Green IFT56 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534
Red IFT56 in Hypogonadotropic hypogonadism Level 3: Pituitary disorders Level 2: Endocrine disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes biliary, renal, neurologic, and skeletal syndrome, MONDO:0859191