Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45
|
review
|
Not set
|
Sources
- NHS GMS
- Emory Genetics Laboratory
Phenotypes
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.20
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
|
Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.42
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
Phenotypes
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.57
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.89
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Leber congenital amaurosis 3
- Retinitis pigmentosa, juvenile, autosomal recessive
- Leber Congenital Amaurosis
- Leber congenital amaurosis 3, 604232
- Retinitis pigmentosa, juvenile, autosomal recessive
- Eye Disorders
- Leber congenital amaurosis 3, 604232Retinitis pigmentosa, juvenile, autosomal recessive, 604232
- Retinitis Pigmentosa, Recessive
- Retinitis pigmentosa
|
Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Red
Phenotypes
- Retinitis pigmentosa, juvenile, autosomal recessive, 604232
- Leber congenital amaurosis 3, 604232
- Eye Disorders
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.171
|
review
|
Not set
|
Sources
- Expert Review Red
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
Phenotypes
- Leber congenital amaurosis 3, 604232
- Retinitis pigmentosa, juvenile, autosomal recessive, 604232
- Ciliopathies
|
Version 3.6
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
Rare multisystem ciliopathy Super panel
|
review
|
Not set
|
Sources
- Expert Review Red
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
Phenotypes
- Leber congenital amaurosis 3, 604232
- Ciliopathies
- Retinitis pigmentosa, juvenile, autosomal recessive, 604232
|