Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.4
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review
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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Sources
- Expert Review Green
- Expert list
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Left Ventricular Noncompaction Cardiomyopathy
Tags
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Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.21
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review
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Not set
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Sources
- Emory Genetics Laboratory
Tags
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Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
Phenotypes
- Barth syndrome, MIM#302060
Tags
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Level 2: Viral research
Version 1.142
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- IUIS Classification February 2018
- London North GLH
- NHS GMS
- GRID V2.0
- Congenital neutropaenia v1.22
- Victorian Clinical Genetics Services
- North West GLH
- ESID Registry 20171117
- Expert Review Green
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- ESID Registry 20171117
- GRID V2.0
- Congenital neutropaenia v1.22
Phenotypes
- Barth syndrome
- 3-methylglutaconic aciduria, type II, 302060
- Congenital defects of phagocyte number or function
- Cardiomyopathy, myopathy, growth retardation, neutropenia
- Cardioskeletal myopathy with neutropenia and abnormal mitochondria
Tags
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Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.85
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- South West GLH
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
Phenotypes
- Dilated Cardiomyopathy, X-Linked
Tags
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Version 4.202
Latest signed off version: v4.0
(22 Mar 2023)
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- ESID Registry 20171117
- GRID V2.0
- Congenital neutropaenia v1.22
Phenotypes
- Barth syndrome
- Cardioskeletal myopathy with neutropenia and abnormal mitochondria
- 3-methylglutaconic aciduria, type II, 302060
- Cardiomyopathy, myopathy, growth retardation, neutropenia
- Congenital defects of phagocyte number or function
Tags
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Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118
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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
- UKGTN
Phenotypes
Tags
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Version 3.33
Latest signed off version: v3.0
(22 Mar 2023)
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- North West GLH
- Yorkshire and North East GLH
- London South GLH
- NHS GMS
- Expert Review Green
- Wessex and West Midlands GLH
Phenotypes
- Barth syndrome, 302060
- 302060 Barth syndrome
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
- Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias)
- Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Disorders of mitochondrial lipid metabolism
- Barth syndrome, 302060
Tags
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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 membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Barth syndrome, 302060
- Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias)
- Disorders of mitochondrial lipid metabolism
Tags
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Version 3.105
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- NHS GMS
- Expert Review Green
Phenotypes
Tags
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Version 3.164
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
Tags
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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
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
Tags
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Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.477
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review
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Not set
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Sources
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
Phenotypes
Tags
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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
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
Phenotypes
Tags
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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
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
Phenotypes
- Disorders of mitochondrial lipid metabolism
- Barth syndrome, 302060
Tags
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Version 3.47
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- NHS GMS
- South West GLH
- London South GLH
- MetBioNet
- Expert Review Green
- MetBioNet
- London South GLH
- South West GLH
- Expert Review Green
Phenotypes
- Disorders of mitochondrial lipid metabolism
- Dilated Cardiomyopathy, X-Linked
- Neutropenia, muscle weakness, growth retardation
- Non-compaction cardiomyopathy
- Barth syndrome, 302060
- Left Ventricular Noncompaction Cardiomyopathy
- HCM, mixed
- Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Barth syndrome
- Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias)
Tags
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Version 3.94
Latest signed off version: v3.24
(15 May 2023)
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review
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Not set
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Sources
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
- NHS GMS
- South West GLH
Phenotypes
Tags
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Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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Not set
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Sources
- Expert Review Red
- London North GLH
Tags
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Version 1.184
|
review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
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Version 1.2
Latest signed off version: v1.0
(14 Sep 2023)
|
review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Expert Review Green
- NHS GMS
Tags
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