Version 19.202
Latest signed off version: v19.1
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
Phenotypes
- Arthrogryposis, distal, type 2A 193700
- Arthrogryposis, distal, type 8 178110
- Arthrogryposis, distal, type 2B 601680
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.22
Latest signed off version: v5.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- UKGTN
- Expert
- Expert list
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Arthrogryposis, distal, type 2A, 193700
- Arthrogryposis, distal, type 2B, 601680
- Arthrogryposis Multiplex Congenita
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.37
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- NHS GMS
- London South GLH
- Expert Review Green
- Expert
- UKGTN
Phenotypes
- Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM:193700
- Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM:618436
- Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, OMIM:178110
- Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, OMIM:618469
Tags
- Q2_23_MOI
- Q2_23_NHS_review
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.56
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, OMIM:178110
- Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, OMIM:618469
- contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, MONDO:0008338
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Version 3.155
Latest signed off version: v3.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- DISTAL ARTHROGRYPOSIS TYPE 2B
- DISTAL ARTHROGRYPOSIS TYPE 2A
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Version 3.87
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700
- Recessive Spondylocarpotarsal Synostosis Syndrome
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Gene2Phenotype confirmed gene with ID HPO
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Version 1.184
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Contractures, pterygia, and variable skeletal fusions syndrome 1B, 618469
- Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436
- Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700
- Contractures, pterygia, and variable skeletal fusions syndrome 1A, 178110
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