C21orf2

chromosome 21 open reading frame 2
OMIM: 603191, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green C21orf2 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.223	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 C21orf2 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.54	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 C21orf2 in Mendeliome Version 1.1902	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 C21orf2 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 Victorian Clinical Genetics Services Phenotypes Spondylometaphyseal dysplasia, axial, MIM# 602271 Tags new gene name
Green C21orf2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	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 C21orf2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	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 C21orf2 in Cone-rod Dystrophy Level 2: Ophthalmological disorders Version 0.54 Component of the following Super Panels: Retinal Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinal dystrophy with macular staphyloma, 617547 Tags new gene name
Green C21orf2 in Fetal anomalies Version 1.255	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 C21orf2 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Retinal dystrophy with macular staphyloma, 617547 (3), Autosomal recessive