Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 4.6
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Sudden unexplained death or survivors of a cardiac event
|
review
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Unknown
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Sources
- South West GLH
- Expert Review Red
- Expert list
Phenotypes
- Mitochondrial phosphate carrier deficiency, 610773
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.615
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism)
- Mitochondrial phosphate carrier deficiency 610773
|
Version 4.134
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
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Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Mitochondrial phosphate carrier deficiency, 610773
- Mitochondrial phosphate carrier deficiency 610773
- Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism)
|
Version 3.103
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Mitochondrial phosphate carrier deficiency, 610773
|
Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 4.167
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
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert
Phenotypes
- Mitochondrial phosphate carrier deficiency, 610773
|
Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
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Sources
- Expert Review Red
- London North GLH
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Version 1.182
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Mitochondrial phosphate carrier deficiency, 610773
|