IFT57

intraflagellar transport 57
OMIM: 606621, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Amber IFT57 in Bardet Biedl syndrome Level 2: Dysmorphic and congenital abnormality syndromes Version 1.14 Component of the following Super Panels: Retinal Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Bardet-Bield syndrome ciliopathy - MONDO:0005308
Amber IFT57 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.71	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Bardet-Bield syndrome ciliopathy - MONDO:0005308
Amber IFT57 in Mendeliome Version 1.2656	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Orofaciodigital syndrome XVIII, MIM# 617927 Bardet-Bield syndrome ciliopathy - MONDO:0005308
Amber IFT57 in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.284 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Bardet-Bield syndrome ciliopathy - MONDO:0005308
Red IFT57 in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 1.31 Component of the following Super Panels: Kidneyome_SuperPanel Renal Cystic Disease_SuperPanel	review	Unknown	Sources Expert Review Red KidGen_CilioNephronop v38.1.0 Phenotypes Orofaciodigital syndrome XVIII, MIM#617927
Amber IFT57 in Cone-rod Dystrophy Level 2: Ophthalmological disorders Version 0.56 Component of the following Super Panels: Retinal Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Bardet-Bield syndrome ciliopathy - MONDO:0005308
Red IFT57 in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 0.76 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes ?Orofaciodigital syndrome XVIII MIM#617927
Amber IFT57 in Fetal anomalies Version 1.370	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Bardet-Bield syndrome ciliopathy - MONDO:0005308, IFT57-related