EDA

ectodysplasin A
OMIM: 300451, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Red EDA in Peeling skin syndrome Level 3: Skin fragility disorders Level 2: Dermatological disorders Version 1.4	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Other Phenotypes Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 Skin peeling/scaling (newborn)
Red EDA in Epidermolysis bullosa and congenital skin fragility Version 2.7 Latest signed off version: v2.2 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes Skin peeling/scaling (newborn) Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100
Green EDA in Ectodermal dysplasia Version 3.29 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Ectodermal dysplasia 1 hypohidrotic X-linked Tooth agenesis, selective, X-linked 1, 313500 Hypohidrotic Ectodermal Dysplasia Ectodermal Dysplasia 1, Hypohidrotic, X-Linked Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100
Green EDA in Ectodermal dysplasia without a known gene mutation Level 3: Ectodermal dysplasias Level 2: Dermatological disorders Version 1.28	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Eligibility statement prior genetic testing Phenotypes Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 Tooth agenesis, selective, X-linked 1, 313500 Ectodermal dysplasia 1 hypohidrotic X-linked Hypohidrotic Ectodermal Dysplasia Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Red EDA in Rare genetic inflammatory skin disorders Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red London North GLH NHS GMS Phenotypes ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED
Red EDA in Fetal anomalies Version 3.152 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS Expert Review Red PAGE DD-Gene2Phenotype Phenotypes Ectodermal dysplasia 1, hypohidrotic, X-linked, OMIM:305100
Green EDA in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TOOTH AGENESIS SELECTIVE X-LINKED TYPE 1 313500 ECTODERMAL DYSPLASIA TYPE 1 305100
Red EDA in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.523 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 Tooth agenesis, selective, X-linked 1, 313500
Green EDA in Severe Paediatric Disorders Version 1.184	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Tooth agenesis, selective, X-linked 1, 313500 Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100