CFAP410

cilia and flagella associated protein 410
OMIM: 603191, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green CFAP410 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Phenotypes Spondylometaphyseal dysplasia, axial, MIM# 602271
Green CFAP410 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondylometaphyseal dysplasia, axial, MIM# 602271 Retinal dystrophy with macular staphyloma, MIM# 617547 Tags new gene name
Green CFAP410 in Mendeliome Version 2.10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondylometaphyseal dysplasia, axial, MIM# 602271 Retinal dystrophy with macular staphyloma, MIM# 617547 Tags new gene name
Green CFAP410 in Skeletal Ciliopathies Level 2: Skeletal disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondylometaphyseal dysplasia, axial, MIM# 602271 Tags new gene name
Green CFAP410 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Literature NHS GMS Victorian Clinical Genetics Services Phenotypes Axial Spondylometaphyseal Dysplasia 602271 Spondylometaphyseal dysplasia, axial 602271
Green CFAP410 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Retinal dystrophy with macular staphyloma, 617547 (3), Autosomal recessive Tags new gene name
Green CFAP410 in Cone-rod Dystrophy Level 2: Ophthalmological disorders Version 1.0 Component of the following Super Panels: Retinal Disorders Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinal dystrophy with macular staphyloma, 617547 Tags new gene name
Green CFAP410 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Phenotypes Spondylometaphyseal dysplasia, axial, MIM# 602271
Green CFAP410 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Retinal dystrophy with macular staphyloma MIM#617547 Spondylometaphyseal dysplasia, axial MIM#602271