Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45
|
review
|
Not set
|
Sources
- NHS GMS
- Emory Genetics Laboratory
Phenotypes
|
Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.34
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
|
Version 3.29
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Hypotrichosis, congenital, with juvenile macular dystrophy, 601553
- Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280
|
Level 3: Ectodermal dysplasias
Level 2: Dermatological disorders
Version 1.28
|
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
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.65
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Ectodermal dysplasia, ectrodactyly, and macular dystrophy 225280
|
Version 3.169
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- EEM SYNDROME
- HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY
|
Version 3.90
Latest signed off version: v3.1
(22 Mar 2023)
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
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.553
Latest signed off version: v5.0
(22 Mar 2023)
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
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.90
Latest signed off version: v4.0
(22 Mar 2023)
|
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
|
Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
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
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280
- Hypotrichosis, congenital, with juvenile macular dystrophy, 601553
|