AMELX

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green AMELX in Mendeliome Version 1.1891	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Amelogenesis imperfecta, type 1E, MIM# 301200 Tags SV/CNV
Green AMELX in Additional findings_Paediatric Level 2: Screening Version 0.278	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Amelogenesis imperfecta
Green AMELX in Amelogenesis imperfecta Level 2: Skeletal disorders Version 1.10	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Phenotypes Amelogenesis imperfecta, type 1E, 301200 hypomaturation AI with variable hypoplastic foci smooth hypoplastic AI Tags SV/CNV
Red AMELX in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category A gene Phenotypes Amelogenesis imperfecta, type 1E, MIM# 301200

4 panels