Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.21
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
Phenotypes
- Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700
|
Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.26
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
Phenotypes
- Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700
|
Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.67
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Progressive external ophthalmoplegia, autosomal dominant 1 157640
- Progressive external ophthalmoplegia, autosomal recessive 1 258450
|
Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.23
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.48
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Literature
Phenotypes
- Progressive external ophthalmoplegia, autosomal dominant 1, OMIM:157640
- Progressive external ophthalmoplegia, autosomal recessive 1, OMIM:258450
|
Version 19.201
Latest signed off version: v19.1
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Mitochondrial DNA depletion syndrome 4A (Alpers type)
|
Version 3.31
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
- Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700
- Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662
|
Version 4.58
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
|
Version 3.4
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Mitochondrial DNA depletion syndrome 4A (Alpers type), OMIM:203700, MONDO:0008758
|
Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.9
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.332
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
Phenotypes
- Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
|
Version 1.12
Latest signed off version: v1.9
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700
- Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459
- Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662
- Progressive external ophthalmoplegia, autosomal dominant 1, 157640
- Progressive external ophthalmoplegia, autosomal recessive 1, 258450
|
Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.179
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- UKGTN
- Expert list
Phenotypes
- Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700
- Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662
- Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459
|
Version 3.6
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700
- Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459
- Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662
- Progressive external ophthalmoplegia, autosomal dominant 1, 157640
- Progressive external ophthalmoplegia, autosomal recessive 1, 258450
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.24
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- London North GLH
Phenotypes
- PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1, 157640
- PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1, 258450
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.22
Latest signed off version: v5.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Expert list
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.32
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- NHS GMS
- Yorkshire and North East GLH
- Expert Review
Phenotypes
- Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700
|
Version 4.46
Latest signed off version: v4.34
(31 Jul 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
Phenotypes
- Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.615
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Mitochondrial DNA depletion syndrome 4A (Alpers type)
- Progressive external ophthalmoplegia, autosomal recessive, 258450
- Progressive external ophthalmoplegia, autosomal dominant, 157640
- Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662
- Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700
- Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459
- Mitochondrial DNA Depletion Syndrome
- Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
|
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
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Progressive external ophthalmoplegia, autosomal dominant, 157640
- Progressive external ophthalmoplegia, autosomal recessive, 258450
- Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700
- Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
- Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662
- Mitochondrial DNA depletion syndrome 4A (Alpers type)
- Mitochondrial DNA Depletion Syndrome
- Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459
|
Version 3.103
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700
- Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459
- Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662
- Progressive external ophthalmoplegia, autosomal dominant 1, 157640
- Progressive external ophthalmoplegia, autosomal recessive 1, 258450
|
Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- PAGE DD-Gene2Phenotype
Phenotypes
- Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), OMIM:607459
- Mitochondrial DNA depletion syndrome 4A (Alpers type), OMIM:203700
- Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662
|
Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MITOCHONDRIAL DNA DEPLETION SYNDROME 4A 203700
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.476
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- London North GLH
- Expert Review Green
- Emory Genetics Laboratory
- Expert list
Phenotypes
- Cardiomyopathy
- sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO)
- Mitochondrial DNA depletion syndrome 4A (Alpers type)
- Mitochondrial DNA depletion syndrome 4B (MNGIE type)
- Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
- Progressive external ophthalmoplegia, autosomal dominant 1
- Progressive external ophthalmoplegia, autosomal recessive 1
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.183
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
- Victorian Clinical Genetics Services
- UKGTN
- Expert
- Expert Review Green
Phenotypes
- Mitochondrial DNA depletion syndrome 4A (Alpers type)
- Mitochondrial DNA depletion syndrome 4B (MNGIE type)
- Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
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
Phenotypes
- MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)
|
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
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Eligibility statement exclusion criteria
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert
Phenotypes
- Progressive external ophthalmoplegia, autosomal recessive, 258450
- Progressive external ophthalmoplegia, autosomal dominant, 157640
- Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662
- Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700
- Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459
- Mitochondrial DNA Depletion Syndrome
- Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
|
Version 4.30
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
Phenotypes
- Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
- Mitochondrial recessive ataxia syndrome, 607459
- autosomal recessive progressive external opthalmoplegia, 258450
- autosomal dominant progressive external ophthalmoplegia, 157640
- Mitochondrial DNA depletion types 4A, 203700 and 4B, 613662
|
Version 3.83
Latest signed off version: v3.24
(15 May 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Emory Genetics Laboratory
- Expert list
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
Phenotypes
- sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO)
- Mitochondrial DNA depletion syndrome 4A (Alpers type)
- Cardiomyopathy
- Progressive external ophthalmoplegia, autosomal recessive 1
- Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
- Progressive external ophthalmoplegia, autosomal dominant 1
- Mitochondrial DNA depletion syndrome 4B (MNGIE type)
|
Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.182
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459
- Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662
- Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700
- Progressive external ophthalmoplegia, autosomal recessive 1, 258450
- Progressive external ophthalmoplegia, autosomal dominant 1, 157640
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.18
Latest signed off version: v1.7
(31 May 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Progressive external ophthalmoplegia, autosomal recessive 1, OMIM:258450
- Progressive external ophthalmoplegia, autosomal dominant 1, OMIM:157640
|
Version 1.5
Latest signed off version: v1.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662
|
Version 1.1
Latest signed off version: v1.0
(14 Sep 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
|