Version 3.35
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Green
- NHS GMS
- Expert list
Phenotypes
- Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, OMIM:300232
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Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.39
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Combined oxidative phosphorylation deficiency 6 300816
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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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Green
- Literature
Phenotypes
- Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Disorders of mitochondrial apoptosis
- Combined oxidative phosphorylation deficiency 6, 300816
- Cowchock syndrome, 310490
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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
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Disorders of mitochondrial apoptosis
- Cowchock syndrome, 310490
- Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Combined oxidative phosphorylation deficiency 6, 300816
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Version 3.105
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Combined oxidative phosphorylation deficiency 6, 300816
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Version 3.164
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Amber
- PAGE DD-Gene2Phenotype
Phenotypes
- COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
- COWCHOCK SYNDROME
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Version 3.88
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 300816
- COWCHOCK SYNDROME 310490
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Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.477
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- South West GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Expert Review
Phenotypes
- Cowchock syndrome, OMIM:310490
- Combined oxidative phosphorylation deficiency 6, OMIM:300816
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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
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Deafness, X-linked 5, OMIM:300614
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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
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Cowchock syndrome, OMIM:310490
- Combined oxidative phosphorylation deficiency 6, OMIM:300816
- Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, OMIM:300232
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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
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
Phenotypes
- Disorders of mitochondrial apoptosis
- Combined oxidative phosphorylation deficiency 6, 300816
- Cowchock syndrome, 310490
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Version 3.18
Latest signed off version: v3.12
(31 Jul 2023)
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- NHS GMS
- South West GLH
- Expert Review Red
Phenotypes
- Combined oxidative phosphorylation deficiency 6 300816
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Version 3.94
Latest signed off version: v3.24
(15 May 2023)
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Expert Review
- Expert Review Green
- South West GLH
- London North GLH
- NHS GMS
- South West GLH
- NHS GMS
- London North GLH
Phenotypes
- Cowchock syndrome, OMIM:310490
- Combined oxidative phosphorylation deficiency 6, OMIM:300816
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Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- South West GLH
- Expert Review Red
- London North GLH
Phenotypes
- Combined oxidative phosphorylation deficiency 6 300816
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Version 1.184
|
review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Combined oxidative phosphorylation deficiency 6, 300816
- Cowchock syndrome, 310490
- Deafness, X-linked 5, 300614
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