ADAMTS17

ADAM metallopeptidase with thrombospondin type 1 motif 17
OMIM: 607511, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green ADAMTS17 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.86	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Weill-Marchesani 4 syndrome, recessive MIM#613195
Green ADAMTS17 in Cataract Level 2: Ophthalmological disorders Version 0.373	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Weill-Marchesani 4 syndrome, recessive, MIM# 613195
Green ADAMTS17 in Glaucoma congenital Level 2: Ophthalmological disorders Version 1.9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Weill-Marchesani 4 syndrome, recessive, MIM# 613195
Green ADAMTS17 in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Weill-Marchesani 4 syndrome, recessive, MIM# 613195
Green ADAMTS17 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Weill-Marchesani syndrome type 4
Green ADAMTS17 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	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Weill-Marchesani syndrome type 4
Green ADAMTS17 in Fetal anomalies Version 1.313	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Weill-Marchesani 4 syndrome, recessive, MIM# 613195