DYM

dymeclin
OMIM: 607461, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green DYM in Mendeliome Version 1.2374	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Smith-McCort dysplasia , MM#607326 Dyggve-Melchior-Clausen disease, MIM#223800
Green DYM in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Dyggve-Melchior-Clausen disease, MIM#223800
Green DYM in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.305	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Smith-McCort dysplasia 607326 Dyggve-Melchior-Clausen disease 223800
Green DYM 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 Dyggve-Melchior-Clausen disease, 223800 (3)
Green DYM in Fetal anomalies Version 1.314	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Smith-McCort dysplasia , MM#607326 Dyggve-Melchior-Clausen disease, MIM#223800
Green DYM in Prepair 1000+ Level 2: Screening Version 1.1586	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Dyggve-Melchior-Clausen disease MIM#223800 Smith-McCort dysplasia MIM#607326
Green DYM in Prepair 500+ Level 2: Screening Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Dyggve-Melchior-Clausen disease, 223800 (3)