Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.30
|
review
|
Not set
|
Sources
- Expert Review Red
- Emory Genetics Laboratory
Phenotypes
|
Level 3: Structural lung disorders
Level 2: Respiratory disorders
Version 3.5
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Expert list
Phenotypes
|
Version 3.5
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- ?Cutis laxa, autosomal dominant 2, OMIM:614434
- Cutis laxa, autosomal recessive, type IA, OMIM:219100
|
Version 3.8
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
- South West GLH
- South West GLH
Phenotypes
- ?Cutis laxa, autosomal dominant 2, OMIM:614434
- Cutis laxa, autosomal recessive, type IA, OMIM:219100
|
Level 3: Connective tissue disorders and aortopathies
Level 2: Cardiovascular disorders
Version 1.127
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- South West GLH
- Expert list
Phenotypes
- ?Cutis laxa, autosomal dominant 2, OMIM:614434
- Cutis laxa, autosomal recessive, type IA, OMIM:219100
|
Level 3: Connective tissues disorders
Level 2: Rheumatological disorders
Version 3.11
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- ?Cutis laxa, autosomal dominant 2, OMIM:614434
- Cutis laxa, autosomal recessive, type IA, OMIM:219100
|
Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE Additional Gene List
- Expert Review Green
Phenotypes
- ?Cutis laxa, autosomal dominant 2, OMIM:614434
- Cutis laxa, autosomal recessive, type IA, OMIM:219100
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.476
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- London North GLH
- Expert Review Green
- Expert Review
Phenotypes
- Charcot-Marie-Tooth disease, demyelinating, type 1H, OMIM:619764
- Neuropathy, hereditary, with or without age-related macular degeneration, OMIM:608895
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
Not set
|
Sources
- Victorian Clinical Genetics Services
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.81
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Red
Phenotypes
- Macular degeneration, age-related, 3, OMIM:608895
- Neuropathy, hereditary, with or without age-related macular degeneration, OMIM:608895
|
Version 3.83
Latest signed off version: v3.24
(15 May 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Expert Review
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
Phenotypes
- Charcot-Marie-Tooth disease, demyelinating, type 1H, OMIM:619764
- Neuropathy, hereditary, with or without age-related macular degeneration, OMIM:608895
|
Version 1.182
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Macular degeneration, age-related, 3, 608895
- Cutis laxa, autosomal recessive, type IA, 219100
- Neuropathy, hereditary, with or without age-related macular degeneration, 608895
- ?Cutis laxa, autosomal dominant 2, 614434
|