Level 3: Ocular movement disorders
Level 2: Ophthalmological disorders
Version 1.10
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Mitochondrial DNA depletion syndrome 3
|
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 3 (hepatocerebral type), 251880
- Cholestasis
|
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Expert Review
- Expert list
Phenotypes
- Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), OMIM:251880
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, OMIM:617070
|
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
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- Mitochondrial Leukoencephalopathy
- Mitochondrial DNA depletion syndrome 3
|
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 3 (hepatocerebral type), 251880
|
Version 1.28
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
- Expert list
Phenotypes
- Portal hypertension, noncirrhotic (617068)
|
Version 1.31
Latest signed off version: v1.26
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- NHS GMS
Phenotypes
- Portal hypertension, noncirrhotic (617068)
|
Version 3.5
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Mitochondrial DNA depletion syndrome 3
|
Version 1.12
Latest signed off version: v1.9
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070
|
Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.179
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Mitochondrial Leukoencephalopathy
- Mitochondrial DNA depletion syndrome 3
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
|
Version 3.6
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.615
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Deoxyguanosine kinase deficiency (Disorders of purine metabolism)
- Disorders of mitochondrial DNA maintenance and integrity
- Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
- Mitochondrial DNA Depletion Syndrome
|
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Deoxyguanosine kinase deficiency (Disorders of purine metabolism)
- Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
- Mitochondrial DNA Depletion Syndrome
- Disorders of mitochondrial DNA maintenance and integrity
- Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
|
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 DNA depletion syndrome 3 (hepatocerebral type), 251880
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070
|
Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), OMIM:251880
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, OMIM:617070
- Portal hypertension, noncirrhotic, 1, OMIM:617068
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.476
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Portal hypertension, noncirrhotic, 617068
- Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
- Neonatal liver failure, myopathy, sensory-motor axonal neuropathy
|
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
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
Phenotypes
- Disorders of mitochondrial DNA maintenance and integrity
- Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
- Mitochondrial DNA Depletion Syndrome
|
Version 3.83
Latest signed off version: v3.24
(15 May 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
Phenotypes
- Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
- Portal hypertension, noncirrhotic, 617068
- Neonatal liver failure, myopathy, sensory-motor axonal neuropathy
|
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070
- Portal hypertension, noncirrhotic, 617068
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.18
Latest signed off version: v1.7
(31 May 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, OMIM:617070
|
Version 1.5
Latest signed off version: v1.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Expert list
Phenotypes
- Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), OMIM:251880
|