Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.8
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 614052
|
Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.12
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 614052
|
Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.58
Signed off v.2.2
on 19 Feb 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Expert list
Phenotypes
- Congenital cataract, neonatal lactic acidosis, cardiomyopathy, encephalomyopathy
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
|
Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 2.16
Signed off v.2.11
on 15 Oct 2020
Component of the following Super Panels:
Sudden cardiac death
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- South West GLH
- Expert list
Phenotypes
|
Version 1.3
Signed off v.1.2
on 17 Feb 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.440
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
- Isolated complex V deficiency
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
- Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type
- Mitochondrial Diseases
|
Version 2.50
Signed off v.2.3
on 17 Feb 2020
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Mitochondrial Diseases
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
- Isolated complex V deficiency
- Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
- Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type
|
Version 1.21
Signed off v.1.17
on 11 Nov 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
|
Version 1.162
Signed off v.1.92
on 21 Aug 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2
|
Version 2.18
Signed off v.2.2
on 13 Feb 2020
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 614052
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.257
Signed off v.2.2
on 13 Feb 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Wessex and West Midlands GLH
- NHS GMS
- Victorian Clinical Genetics Services
Phenotypes
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
- seizures
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.714
Signed off v.3.2
on 13 Feb 2020
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
Phenotypes
- MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2
|
Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 2.12
Signed off v.2.4
on 17 Feb 2020
Component of the following Super Panels:
White matter disorders - childhood onset
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
Phenotypes
- Isolated complex V deficiency
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
- Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type
- Mitochondrial Diseases
|
Version 1.18
Signed off v.1.4
on 19 Feb 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- MetBioNet
- Expert Review Green
- NHS GMS
- Expert Review Green
Phenotypes
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
|
Version 1.72
Signed off v.1.58
on 6 Oct 2020
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.42
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
|