Version 19.201
Latest signed off version: v19.1
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Lethal congenital contracture syndrome 4 614915
- Arthrogryposis, distal, type 1B 614335
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.22
Latest signed off version: v5.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert
- Expert list
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Arthrogryposis, distal, type 1B, 614335
- Lethal congenital contracture syndrome 4, 614915
- Distal Arthrogryposis
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.36
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
- London South GLH
- Expert
Phenotypes
- Arthrogryposis, distal, type 1B, OMIM:614335
- Lethal congenital contracture syndrome 4, OMIM:614915
- Myopathy, congenital, with tremor, OMIM:618524
|
Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- PAGE Additional Gene List
- Expert Review Green
Phenotypes
- Lethal congenital contracture syndrome 4 614915
- Arthrogryposis, distal, type 1B 614335
|
Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- LETHAL CONGENITAL CONTRACTURE SYNDROME 4, OMIM:614915
- MYBPC1-related arthrogryposis and myopathy
|
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
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Arthrogryposis, distal, type 1B 614335 AD
- Lethal congenital contracture syndrome 4 614915 AR
|
Version 1.182
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Arthrogryposis, distal, type 1B, 614335
- Lethal congenital contracture syndrome 4, 614915
- Myopathy, congenital, with tremor, 618524
|