Level 3: Sleep disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.7
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Red
- Expert Review
Phenotypes
- Monozygotic twins concordant for Kleine-Levin Syndrome
- recurrent hypersomnia
- behavioral disturbances
- compulsive eating and drinking (or decreased eating)
- sexual disinhibition
- irritability
- confusion
- feeling of unreality
- altered tactile, gustative, and olphatory perceptions
- apathi
- impaired speech
- impaired memory
- depression and anxiety
- transient symptoms at the end, amnesia, moderate elation and insomnia
- normality between episodes
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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
- Distal Congenital Nonprogressive Spinal Muscular Atrophy
- Brachyolmia type 3, 113500
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Version 4.21
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- Other
Phenotypes
- Digital arthropathy-brachydactyly, familial 606835
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Version 3.10
Latest signed off version: v3.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Red
- NHS GMS
- London North GLH
- Wessex and West Midlands GLH
Phenotypes
- Hereditary motor and sensory neuropathy, type IIc, 606071
- sexual disinhibition
- confusion
- apathi
- impaired memory
- impaired speech
- compulsive eating and drinking (or decreased eating)
- irritability
- recurrent hypersomnia
- behavioral disturbances
- transient symptoms at the end, amnesia, moderate elation and insomnia
- Monozygotic twins concordant for Kleine-Levin Syndrome
- altered tactile, gustative, and olphatory perceptions
- normality between episodes
- feeling of unreality
- depression and anxiety
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.31
Latest signed off version: v5.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Expert list
Phenotypes
- Spinal muscular atrophy, distal, congenital nonprogressive 600175
- Metatropic dysplasia 156530
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Brachyolmia type 3 113500
- Hereditary motor and sensory neuropathy, type IIc 606071
- Digital arthropathy-brachydactyly, familial 606835
- SED, Maroteaux type 184095
- Parastremmatic dwarfism 168400
- Metatropic dysplasia 156530
- Scapuloperoneal spinal muscular atrophy 181405
- Spinal muscular atrophy, distal, congenital nonprogressive 600175
- Spondylometaphyseal dysplasia, Kozlowski type 184252
|
Version 3.164
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- METATROPIC DYSPLASIA
- SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Removed
- Emory Genetics Laboratory
Phenotypes
- Disproportionate Short Stature
Tags
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Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 3.6
Latest signed off version: v3.3
(22 Mar 2023)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Distal Congenital Nonprogressive Spinal Muscular Atrophy
- Brachyolmia type 3, OMIM:113500
|
Version 3.88
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- METATROPIC DYSPLASIA 156530
- SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE 184252
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.477
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- South West GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Hereditary motor and sensory neuropathy, type IIc, 606071
|
Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.38
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
Not set
|
Sources
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Brachyolmia type 3, 113500
- Spondylometaphyseal dysplasia, Kozlowski type, 184252
- Metatropic dysplasia, 156530
- Hereditary motor and sensory neuropathy, type IIc, 606071
- Scapuloperoneal spinal
- muscular atrophy, 181405
- [Sodium serum level QTL 1], 613508
- Parastremmatic dwarfism, 168400
- SED, Maroteaux type, 184095
- Spinal muscular atrophy, distal, congenital nonprogressive, 600175
- Digital arthropathy-brachydactyly, familial, 606835
|
Version 3.94
Latest signed off version: v3.24
(15 May 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Radboud University Medical Center, Nijmegen
- South West GLH
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Expert list
- London North GLH
- Illumina TruGenome Clinical Sequencing Services
- NHS GMS
- South West GLH
- NHS GMS
- London North GLH
Phenotypes
- Hereditary motor and sensory neuropathy, type IIc, 606071
|
Version 1.184
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Digital arthropathy-brachydactyly, familial, 606835
- Metatropic dysplasia, 156530
- Spinal muscular atrophy, distal, congenital nonprogressive, 600175
- Brachyolmia type 3, 113500
- Hereditary motor and sensory neuropathy, type IIc, 606071
- Scapuloperoneal spinal muscular atrophy, 181405
- [Sodium serum level QTL 1], 613508
- Spondylometaphyseal dysplasia, Kozlowski type, 184252
- SED, Maroteaux type, 184095
- ?Avascular necrosis of femoral head, primary, 2, 617383
- Parastremmatic dwarfism, 168400
|