CFAP418

cilia and flagella associated protein 418
OMIM: 614477, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Amber CFAP418 in Bardet Biedl syndrome Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Bardet-Biedl syndrome 21, MIM#617406
Green CFAP418 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Bardet-Biedl syndrome 21, MIM#617406 Retinitis pigmentosa 64, MIM#614500
Green CFAP418 in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 21, MIM#617406 Retinitis pigmentosa 64, MIM#614500
Amber CFAP418 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Bardet-Biedl syndrome 21, MIM#617406
Green CFAP418 in Retinitis pigmentosa Level 2: Ophthalmological disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Achromatopsia, Cone, and Cone-rod Dystrophy Retinitis pigmentosa 64, 614500
Green CFAP418 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cone-rod dystrophy 16, 614500 (3)
Green CFAP418 in Cone-rod Dystrophy Level 2: Ophthalmological disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Cone-rod dystrophy 16, 614500 Retinitis pigmentosa 64, 614500
Amber CFAP418 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Expert list Phenotypes Bardet-Biedl syndrome 21, MIM#617406
Amber CFAP418 in Severe early-onset obesity Level 2: Endocrine disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Bardet-Biedl syndrome 21, MIM#617406
Green CFAP418 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cone-rod dystrophy 16, Retinitis pigmentosa 64 MIM#614500