Level 2: Viral research
Version 1.142
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review
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Not set
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Sources
Tags
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
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review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Charcot-Marie-Tooth disease, recessive intermediate, B (Lysyl-tRNA synthetase mutations) (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Charcot-Marie-Tooth disease, recessive intermediate, B, 613641
- Deafness, autosomal recessive 89, 613916
Tags
|
Version 4.137
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Deafness, autosomal recessive 89, 613916
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Charcot-Marie-Tooth disease, recessive intermediate, B (Lysyl-tRNA synthetase mutations) (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Charcot-Marie-Tooth disease, recessive intermediate, B, 613641
Tags
|
Version 3.105
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Deafness, autosomal recessive 89 613916
- ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641
Tags
|
Version 3.164
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B
- DEAFNESS, AUTOSOMAL RECESSIVE 89
Tags
|
Version 3.88
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- DEAFNESS, AUTOSOMAL RECESSIVE 89, OMIM:613916
- KARS1-related leukoencephalopathy with or without deafness, OMIM:619147
Tags
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.477
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- South West GLH
- Expert Review Red
- UKGTN
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Charcot-Marie-Tooth, Intermediate (Dominant).
- Charcot-Marie-Tooth, Intermediate (Dominant)
- Deafness, autosomal recessive 89, 613916
- Deafness, autosomal recessive 89, 613916
- Charcot Marie Tooth disease, recessive intermediate, B, 613641
- Deafness, autosomal recessive 89, 613916
Tags
|
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Charcot-Marie-Tooth disease, recessive intermediate, B, 613641
- Deafness, autosomal recessive 89, 613916
Tags
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.196
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Green
- Expert Review
- Literature
Phenotypes
- Global developmental delay
- Intellectual disability
- Seizures
- Charcot-Marie-Tooth disease, recessive intermediate, B - 613641
- Deafness, autosomal recessive 89 - 613916
Tags
|
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Global developmental delay
- Intellectual disability
- Seizures
- ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641
- Deafness, autosomal recessive 89, 613916
Tags
|
Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 4.169
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
Phenotypes
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Charcot-Marie-Tooth disease, recessive intermediate, B, 613641
- Deafness, autosomal recessive 89, 613916
Tags
|
Version 3.94
Latest signed off version: v3.24
(15 May 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Radboud University Medical Center, Nijmegen
- South West GLH
- Expert Review Red
- UKGTN
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- NHS GMS
- NHS GMS
- South West GLH
Phenotypes
- Deafness, autosomal recessive 89, 613916
- Charcot-Marie-Tooth, Intermediate (Dominant)
- Charcot-Marie-Tooth, Intermediate (Dominant).
- Charcot Marie Tooth disease, recessive intermediate, B, 613641
|
Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
- Expert Review Red
- London North GLH
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641
- Deafness, autosomal recessive 89, 613916
Tags
|