CDH3

cadherin 3
OMIM: 114021, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Red CDH3 in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.47	review	Not set	Sources NHS GMS Emory Genetics Laboratory Phenotypes Eye Disorders
Red CDH3 in VACTERL-like phenotypes Level 3: Limb disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.35	review	Not set	Sources Emory Genetics Laboratory
Green CDH3 in Ectodermal dysplasia Level 2: Dermatology Version 4.23 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280
Green CDH3 in Ectodermal dysplasia without a known gene mutation Level 3: Ectodermal dysplasias Level 2: Dermatological disorders Version 1.30	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280
Green CDH3 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.34 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Expert list UKGTN Phenotypes Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280
Green CDH3 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes EEM SYNDROME HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY
Green CDH3 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EEM SYNDROME 225280 HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY 601553
Red CDH3 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280
Green CDH3 in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes i Hypotrichosis, congenital, with juvenile macular dystrophy, 601553Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 i Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 Macular Dystrophy/Degeneration/Stargardt Disease Eye Disorders
Red CDH3 in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 Eye Disorders