EDA

ectodysplasin A
OMIM: 300451, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green EDA in Desmosomal disorders Level 2: Dermatological disorders Version 0.33	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100 Tooth agenesis, selective, X-linked 1 MIM#313500
Green EDA in Mendeliome Version 1.1902	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100 Tooth agenesis, selective, X-linked 1 MIM#313500
Green EDA in Oligodontia Level 2: Dysmorphic and congenital abnormality syndromes Version 0.29	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100 Tooth agenesis, selective, X-linked 1 MIM#313500
Green EDA in Ectodermal Dysplasia Level 2: Dermatological disorders Version 0.86	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Phenotypes Ectodermal dysplasia 1, hypohidrotic, X-linked, MIM# 305100 MONDO:0010585
Green EDA in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3)
Green EDA in Hair disorders Level 2: Dermatological disorders Version 0.71	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green Literature Phenotypes Ectodermal dysplasia, hypohidrotic, Tooth agenesis, selective
Green EDA 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 Ectodermal dysplasia, hypohidrotic
Green EDA in Prepair 1000+ Level 2: Screening Version 1.9	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3)
Red EDA in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category A gene Phenotypes Tooth agenesis, selective, X-linked 1 MIM#313500 Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100
Green EDA in Prepair 500+ Level 2: Screening Version 1.1	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3)