Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 5.4
Latest signed off version: v5.0
(1 May 2024)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
- RetNet
Phenotypes
- Joubert syndrome 35, OMIM:61816
- cone-rod dystrophy, MONDO:0015993
- Retinitis pigmentosa 83, OMIM:618173
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
Rare multisystem ciliopathy Super panel
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Expert list
Phenotypes
- Joubert syndrome 35, OMIM:61816
- cone-rod dystrophy, MONDO:0015993
- Retinitis pigmentosa 83, OMIM:618173
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
Paediatric disorders
Rare multisystem ciliopathy Super panel
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Expert list
Phenotypes
- Joubert syndrome 35, OMIM:61816
Tags
|