Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.42
|
review
|
Not set
|
Sources
- NHS GMS
- Emory Genetics Laboratory
Phenotypes
|
Version 1.905
Latest signed off version: v1.92
(21 Aug 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
|
Version 2.78
Latest signed off version: v2.2
(13 Feb 2020)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B 257270
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1677
Latest signed off version: v3.2
(13 Feb 2020)
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Night blindness, congenital stationary (complete), 1B, autosomal
- recessive, 257270
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.285
Latest signed off version: v2.195
(5 Aug 2021)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Congenital Stationary Night Blindness
- Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270
|
Version 1.132
Latest signed off version: v1.3
(4 Mar 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Red
Phenotypes
- Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270
- Eye Disorders
|
Version 1.127
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270
|