Version 0.65
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- ClinGen
- Expert Review Green
- Other
Phenotypes
- Usher Syndrome, Type 2C
- Orphanet:231178
- OMIM:605472
|
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
|
Unknown
|
Sources
- Emory Genetics Laboratory
Phenotypes
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
|
Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.41
Latest signed off version: v4.39
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
Phenotypes
- hearing loss
- Febrile seizures, familial, 4, 604352
- Syndromic and Non Syndromic Hearing Loss
- Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472
- Usher syndrome, type 2C, 605472
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.10
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
Not set
|
Sources
- Wessex and West Midlands GLH
- NHS GMS
- NIHRBR-RD Consortium SPEED_v3.0_20170404
- Radboud University Medical Center, Nijmegen
- Expert Review Red
Phenotypes
- Febrile seizures, familial, 4, 604352
- Usher syndrome, type 2C, 605472
- Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Febrile seizures, familial, 4, 604352
- Usher syndrome, type
- 2C, 605472
- Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 5.4
Latest signed off version: v5.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Usher syndrome, type 2C, 605472
- Eye Disorders
- Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472
|
Version 3.79
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Red
Phenotypes
- Usher syndrome, type 2C, 605472
- Eye Disorders
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.172
|
review
|
Not set
|
Sources
- Expert Review Red
- Emory Genetics Laboratory
Phenotypes
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472
- Usher syndrome, type 2C, 605472
|