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Mitochondrial disease v0.969 PTPMT1 Bryony Thompson Marked gene: PTPMT1 as ready
Mitochondrial disease v0.969 PTPMT1 Bryony Thompson Gene: ptpmt1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.969 PTPMT1 Bryony Thompson Classified gene: PTPMT1 as Green List (high evidence)
Mitochondrial disease v0.969 PTPMT1 Bryony Thompson Gene: ptpmt1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.968 PTPMT1 Bryony Thompson gene: PTPMT1 was added
gene: PTPMT1 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: PTPMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPMT1 were set to 39279645; 37672386
Phenotypes for gene: PTPMT1 were set to inborn mitochondrial metabolism disorder MONDO:0004069
Review for gene: PTPMT1 was set to GREEN
Added comment: 6 cases from 3 independent families with biallelic variants in PTPMT1 (a mitochondrial tyrosine phosphatase required for de novo cardiolipin biosynthesis). All cases presented with a complex, neonatal/infantile onset neurological and neurodevelopmental syndrome including developmental delay, microcephaly, facial dysmorphism, epilepsy, spasticity, cerebellar ataxia and nystagmus, sensorineural hearing loss, optic atrophy and bulbar dysfunction. Supporting knockout zebrafish and mouse models.
Sources: Literature
Mitochondrial disease v0.967 GUK1 Zornitza Stark Phenotypes for gene: GUK1 were changed from Mitochondrial DNA depletion syndrome MONDO:0018158, GUK1-related to Mitochondrial DNA depletion syndrome 21, MIM# 621071
Mitochondrial disease v0.966 GUK1 Zornitza Stark reviewed gene: GUK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 21, MIM# 621071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.966 DAP3 Zornitza Stark Classified gene: DAP3 as Green List (high evidence)
Mitochondrial disease v0.966 DAP3 Zornitza Stark Gene: dap3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.965 DAP3 Zornitza Stark Marked gene: DAP3 as ready
Mitochondrial disease v0.965 DAP3 Zornitza Stark Gene: dap3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.965 DAP3 Zornitza Stark Classified gene: DAP3 as Green List (high evidence)
Mitochondrial disease v0.965 DAP3 Zornitza Stark Gene: dap3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.964 DAP3 Zornitza Stark gene: DAP3 was added
gene: DAP3 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: DAP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAP3 were set to 39701103
Phenotypes for gene: DAP3 were set to Mitochondrial disease MONDO:0044970, DAP3-related
Review for gene: DAP3 was set to GREEN
Added comment: DAP3 encodes the mitoribosomal small subunit 29 (MRPS29).

Five unrelated individuals reported with bi-allelic variants in DAP3 and variable clinical presentations ranging from Perrault syndrome (sensorineural hearing loss and ovarian insufficiency) to an early childhood neurometabolic phenotype. Assessment of respiratory-chain function and proteomic profiling of fibroblasts from affected individuals demonstrated reduced MRPS29 protein amounts and, consequently, decreased levels of additional protein components of the mitoribosomal small subunit, as well as an associated combined deficiency of complexes I and IV. Lentiviral transduction of fibroblasts from affected individuals with wild-type DAP3 cDNA increased DAP3 mRNA expression and partially rescued protein levels of MRPS7, MRPS9, and complex I and IV subunits, demonstrating the pathogenicity of the DAP3 variants.
Sources: Literature
Mitochondrial disease v0.963 MT-TV Zornitza Stark edited their review of gene: MT-TV: Added comment: PMID 39468830: multiplex family with spastic paraplegia and homoplasmic variant, m.1661A > G; Changed publications: 39468830; Changed phenotypes: Ataxia, Seizures, Deafness, Spastic paraplegia
Mitochondrial disease v0.963 PDE12 Zornitza Stark Marked gene: PDE12 as ready
Mitochondrial disease v0.963 PDE12 Zornitza Stark Gene: pde12 has been classified as Green List (High Evidence).
Mitochondrial disease v0.963 PDE12 Zornitza Stark Phenotypes for gene: PDE12 were changed from Mitochondrial disease MONDO:0044970, PDE12-related to Mitochondrial disease MONDO:0044970, PDE12-related
Mitochondrial disease v0.962 PDE12 Zornitza Stark Phenotypes for gene: PDE12 were changed from Mitochondrial disease MONDO:0044970 to Mitochondrial disease MONDO:0044970, PDE12-related
Mitochondrial disease v0.961 PDE12 Zornitza Stark Classified gene: PDE12 as Green List (high evidence)
Mitochondrial disease v0.961 PDE12 Zornitza Stark Gene: pde12 has been classified as Green List (High Evidence).
Mitochondrial disease v0.959 PDE12 Chirag Patel gene: PDE12 was added
gene: PDE12 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: PDE12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE12 were set to PMID: 39567835
Phenotypes for gene: PDE12 were set to Mitochondrial disease MONDO:0044970
Review for gene: PDE12 was set to GREEN
Added comment: 3 families (2 consanguineous) with 5 affected individuals with early onset mitochondrial disease presentation (3 liveborn, 2 intrauterine death).
-Family 1: 1 x infant death @3mths (no clinical information), 1 x 7yr old with neonatal respiratory and lactic acidosis, developmental delay, and mitochondrial respiratory chain deficiencies, and marked cytochrome c oxidase (COX) deficiency in muscle.
-Family 2: 1 x neonatal death @2days with metabolic acidosis and lactic acidosis, respiratory failure, lissencephaly, dysgenesis of the corpus callosum and extensive periventricular and subcortical cysts. Normal pyruvate dehydrogenase complex and electron
transfer chain activities in fibroblasts.
-Family 3: 2 x fetuses (13wks and 22wks) with increase nuchal translucency and reduced fetal movements. One had intra-uterine growth retardation, hydrops and cystic hygroma. The other had permanent flexion contractures of four limbs). Western blotting in fetal skeletal muscle showed absent respiratory chain complexes (I, IV, and V).

WES in all 3 families identified 3 different homozygous missense variants in PDE12 gene (p.Tyr155Cys, p.Gly372Glu, and p.Arg41Pro). All variants segregated with disease, were rare in gnomAD, and in silico pathogenicity prediction tools pointed towards a high likelihood of pathogenicity.

PDE12 gene encodes the poly(A)-specific exoribonuclease, involved in the quality control of mitochondrial non-coding RNAs. Patient-derived primary fibroblasts demonstrate diminished steady-state levels of PDE12 protein, whilst mitochondrial poly(A)-tail RNA sequencing revealed an accumulation of spuriously polyadenylated mitochondrial RNA, consistent with perturbed function of PDE12 protein.
Sources: Literature
Mitochondrial disease v0.959 PDE12 Chirag Patel gene: PDE12 was added
gene: PDE12 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: PDE12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE12 were set to PMID: 39567835
Phenotypes for gene: PDE12 were set to Mitochondrial disease MONDO:0044970
Review for gene: PDE12 was set to GREEN
Added comment: 3 families (2 consanguineous) with 5 affected individuals with early onset mitochondrial disease presentation (3 liveborn, 2 intrauterine death).
-Family 1: 1 x infant death @3mths (no clinical information), 1 x 7yr old with neonatal respiratory and lactic acidosis, developmental delay, and mitochondrial respiratory chain deficiencies, and marked cytochrome c oxidase (COX) deficiency in muscle.
-Family 2: 1 x neonatal death @2days with metabolic acidosis and lactic acidosis, respiratory failure, lissencephaly, dysgenesis of the corpus callosum and extensive periventricular and subcortical cysts. Normal pyruvate dehydrogenase complex and electron
transfer chain activities in fibroblasts.
-Family 3: 2 x fetuses (13wks and 22wks) with increase nuchal translucency and reduced fetal movements. One had intra-uterine growth retardation, hydrops and cystic hygroma. The other had permanent flexion contractures of four limbs). Western blotting in fetal skeletal muscle showed absent respiratory chain complexes (I, IV, and V).

WES in all 3 families identified 3 different homozygous missense variants in PDE12 gene (p.Tyr155Cys, p.Gly372Glu, and p.Arg41Pro). All variants segregated with disease, were rare in gnomAD, and in silico pathogenicity prediction tools pointed towards a high likelihood of pathogenicity.

PDE12 gene encodes the poly(A)-specific exoribonuclease, involved in the quality control of mitochondrial non-coding RNAs. Patient-derived primary fibroblasts demonstrate diminished steady-state levels of PDE12 protein, whilst mitochondrial poly(A)-tail RNA sequencing revealed an accumulation of spuriously polyadenylated mitochondrial RNA, consistent with perturbed function of PDE12 protein.
Sources: Literature
Mitochondrial disease v0.958 CMPK2 Zornitza Stark Classified gene: CMPK2 as Amber List (moderate evidence)
Mitochondrial disease v0.958 CMPK2 Zornitza Stark Gene: cmpk2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.958 CMPK2 Zornitza Stark Marked gene: CMPK2 as ready
Mitochondrial disease v0.958 CMPK2 Zornitza Stark Gene: cmpk2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.958 CMPK2 Zornitza Stark Classified gene: CMPK2 as Amber List (moderate evidence)
Mitochondrial disease v0.958 CMPK2 Zornitza Stark Gene: cmpk2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.957 CMPK2 Zornitza Stark gene: CMPK2 was added
gene: CMPK2 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: CMPK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CMPK2 were set to 36443312
Phenotypes for gene: CMPK2 were set to bilateral striopallidodentate calcinosis, MONDO:0008947, CMPK2-related
Review for gene: CMPK2 was set to AMBER
Added comment: Three individuals from two unrelated families reported. One family (two sibs) with homozygous start loss variant, and the other family with compound het variants. Adult-onset neurodegenerative disorder. Extensive functional data including mouse model. Evidence of underlying mitochondrial dysfunction.
Sources: Literature
Mitochondrial disease v0.956 GUK1 Bryony Thompson Marked gene: GUK1 as ready
Mitochondrial disease v0.956 GUK1 Bryony Thompson Gene: guk1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.956 GUK1 Bryony Thompson Classified gene: GUK1 as Green List (high evidence)
Mitochondrial disease v0.956 GUK1 Bryony Thompson Gene: guk1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.956 GUK1 Bryony Thompson Classified gene: GUK1 as Green List (high evidence)
Mitochondrial disease v0.956 GUK1 Bryony Thompson Gene: guk1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.955 GUK1 Bryony Thompson gene: GUK1 was added
gene: GUK1 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: GUK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GUK1 were set to 39230499
Phenotypes for gene: GUK1 were set to Mitochondrial DNA depletion syndrome MONDO:0018158, GUK1-related
Review for gene: GUK1 was set to GREEN
Added comment: 4 adult cases from 3 unrelated families with biallelic variants leading to GUK1 deficiency. Cases presented with ptosis, ophthalmoparesis, myopathic proximal limb weakness, variable hepatopathy, and altered T-lymphocyte profiles. Initial manifestations in childhood or adolescence and developed ptosis and skeletal myopathy. mtDNA depletion/deletions are present in muscle biopsies of reduced activities of mitochondrial respiratory chain enzymes in all 4 cases.
Sources: Literature
Mitochondrial disease v0.954 GARS Zornitza Stark Phenotypes for gene: GARS were changed from Spinal muscular atrophy, infantile, James type, MIM# 619042; Charcot-Marie-Tooth disease, type 2D, MIM# 601472; Neuronopathy, distal hereditary motor, type VA, MIM# 600794; Multi-system mitochondrial disorder to Mitochondrial disease (MONDO:0044970), GARS1-related; Spinal muscular atrophy, infantile, James type, MIM# 619042; Charcot-Marie-Tooth disease, type 2D, MIM# 601472; Neuronopathy, distal hereditary motor, type VA, MIM# 600794; Multi-system mitochondrial disorder
Mitochondrial disease v0.953 GARS Chris Ciotta reviewed gene: GARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial disease (MONDO:0044970), GARS1-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.953 TYMP Zornitza Stark Marked gene: TYMP as ready
Mitochondrial disease v0.953 TYMP Zornitza Stark Gene: tymp has been classified as Green List (High Evidence).
Mitochondrial disease v0.953 TYMP Zornitza Stark Phenotypes for gene: TYMP were changed from Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041 to Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041
Mitochondrial disease v0.952 TYMP Zornitza Stark Phenotypes for gene: TYMP were changed from to Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041
Mitochondrial disease v0.951 TYMP Zornitza Stark Publications for gene: TYMP were set to
Mitochondrial disease v0.950 TYMP Zornitza Stark Mode of inheritance for gene: TYMP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.949 ME2 Bryony Thompson Marked gene: ME2 as ready
Mitochondrial disease v0.949 ME2 Bryony Thompson Gene: me2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.949 ME2 Bryony Thompson gene: ME2 was added
gene: ME2 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: ME2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ME2 were set to 39401966
Phenotypes for gene: ME2 were set to inborn disorder of energy metabolism MONDO:0019243
Review for gene: ME2 was set to RED
Added comment: A single individual with a homozygous frameshift variant from a consanguineous family. The phenotype included developmental delay, microcephaly, mild brain atrophy, peripheral hypotonia, subtle dysmorphic features, ectopic kidney, and mild lactate elevation. Deletion of yeast ortholog of the gene resulted in growth arrest (which could be rescued).
Sources: Literature
Mitochondrial disease v0.948 MRPL49 Zornitza Stark Marked gene: MRPL49 as ready
Mitochondrial disease v0.948 MRPL49 Zornitza Stark Gene: mrpl49 has been classified as Green List (High Evidence).
Mitochondrial disease v0.948 MRPL49 Zornitza Stark Classified gene: MRPL49 as Green List (high evidence)
Mitochondrial disease v0.948 MRPL49 Zornitza Stark Gene: mrpl49 has been classified as Green List (High Evidence).
Mitochondrial disease v0.947 MRPL49 Zornitza Stark gene: MRPL49 was added
gene: MRPL49 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: MRPL49 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPL49 were set to 39417135
Phenotypes for gene: MRPL49 were set to Mitochondrial disease, MONDO:0044970, MRPL49-related
Review for gene: MRPL49 was set to GREEN
Added comment: Five unrelated families with presentations ranging from Perrault syndrome (primary ovarian insufficiency and sensorineural hearing loss) to severe childhood onset of leukodystrophy, learning disability, microcephaly and retinal dystrophy and bi-allelic variants in this gene.
Sources: Literature
Mitochondrial disease v0.946 SLC25A12 Zornitza Stark Phenotypes for gene: SLC25A12 were changed from Developmental and epileptic encephalopathy 39, MIM# 612949 to Developmental and epileptic encephalopathy 39, MIM# 612949
Mitochondrial disease v0.945 SLC25A12 Zornitza Stark Marked gene: SLC25A12 as ready
Mitochondrial disease v0.945 SLC25A12 Zornitza Stark Gene: slc25a12 has been classified as Green List (High Evidence).
Mitochondrial disease v0.945 SLC25A12 Zornitza Stark Phenotypes for gene: SLC25A12 were changed from Developmental and epileptic encephalopathy 39, MIM# 612949 to Developmental and epileptic encephalopathy 39, MIM# 612949
Mitochondrial disease v0.944 SLC25A12 Zornitza Stark Phenotypes for gene: SLC25A12 were changed from to Developmental and epileptic encephalopathy 39, MIM# 612949
Mitochondrial disease v0.943 SLC25A12 Zornitza Stark Publications for gene: SLC25A12 were set to 19641205; 24515575; 35008954; 32700846; 31766059; 31514314
Mitochondrial disease v0.943 SLC25A12 Zornitza Stark Publications for gene: SLC25A12 were set to 19641205; 24515575; 35008954; 32700846; 31766059; 31514314
Mitochondrial disease v0.942 SLC25A12 Zornitza Stark Publications for gene: SLC25A12 were set to
Mitochondrial disease v0.941 SLC25A12 Zornitza Stark Mode of inheritance for gene: SLC25A12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.940 SLC25A12 Zornitza Stark changed review comment from: Developmental and epileptic encephalopathy-39 (DEE39) is an autosomal recessive neurologic syndrome characterized clinically by global developmental delay apparent in early infancy, early-onset seizures, hypotonia with poor motor function, and hypomyelination on brain imaging. Other features include absent speech and inability to walk; spasticity and hyperreflexia has also been reported. Although there is significant hypomyelination on brain imaging, the disorder is not classified as a primary leukodystrophy. The myelination defect most likely stems from primary neuronal dysfunction due to impaired mitochondrial transport activity, reviewed in PMID 35008954.

Multiple families and functional data, including mouse model.; to: Developmental and epileptic encephalopathy-39 (DEE39) is an autosomal recessive neurologic syndrome characterized clinically by global developmental delay apparent in early infancy, early-onset seizures, hypotonia with poor motor function, and hypomyelination on brain imaging. Other features include absent speech and inability to walk; spasticity and hyperreflexia has also been reported. Although there is significant hypomyelination on brain imaging, the disorder is not classified as a primary leukodystrophy. The myelination defect most likely stems from primary neuronal dysfunction due to impaired mitochondrial transport activity, reviewed in PMID 35008954.

Multiple families and functional data, including mouse model.

The SLC25A12 gene encodes aralar, a protein that functions in the transport of aspartate from mitochondria to cytosol in exchange for glutamate. Aralar also plays a role in the transfer of cytosolic reducing equivalents into mitochondria as a member of the malate-aspartate NADH shuttle.
Mitochondrial disease v0.940 PUS1 Zornitza Stark Phenotypes for gene: PUS1 were changed from Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462 to Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462
Mitochondrial disease v0.939 PUS1 Zornitza Stark Marked gene: PUS1 as ready
Mitochondrial disease v0.939 PUS1 Zornitza Stark Gene: pus1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.939 PUS1 Zornitza Stark Phenotypes for gene: PUS1 were changed from to Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462
Mitochondrial disease v0.938 PUS1 Zornitza Stark Publications for gene: PUS1 were set to
Mitochondrial disease v0.937 PUS1 Zornitza Stark Mode of inheritance for gene: PUS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.936 PUS1 Zornitza Stark edited their review of gene: PUS1: Changed phenotypes: Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462
Mitochondrial disease v0.936 CIAO1 Zornitza Stark Marked gene: CIAO1 as ready
Mitochondrial disease v0.936 CIAO1 Zornitza Stark Gene: ciao1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.936 CIAO1 Zornitza Stark Classified gene: CIAO1 as Green List (high evidence)
Mitochondrial disease v0.936 CIAO1 Zornitza Stark Gene: ciao1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.935 CIAO1 Zornitza Stark gene: CIAO1 was added
gene: CIAO1 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: CIAO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIAO1 were set to 38411040; 38196629
Phenotypes for gene: CIAO1 were set to Multiple mitochondrial dysfunctions syndrome 10, MIM#620960
Review for gene: CIAO1 was set to GREEN
Added comment: PMID:38196629 (note pre-print) describes 4 unrelated patients with core features of progressive muscle weakness, respiratory insufficiency, joint hyperlaxity, ankle tightness, calf pseudohypertrophy, elevated CK, and larning disabilities/difficulties. 2 patients presented with increased iron deposition in the brain. Age of recognition of myopathic symptoms varied from early childhood to adolescence. Muscle biopsy showed variation in fiber size and an increase in internalized nuclei, as well as scattered degenerating/regenerating fibers and a mild to minimal increase in endomysial fibrosis. Electron microscopy revealed morphologically abnormal mitochondria.

PMID: 38411040 reports 2 unrelated patients. Patient 1 was born with microcephaly and borderline hypertonia, and died at 18 months of respiratory failure from bronchiolitis. Patient 2 presented with failure to thrive, a hyperkinetic movement disorder, and autism before deteriorating in late teens with muscle weakness, recurrent pneuomonia with respiratory insufficiency, and eventually death due to multi-organ failure with carnificating pneumonia, septic cardiomyopathy, and intracranial hemorrhages. Immune deficiency was ruled out.

All variants reported were homozygous or compound heterozygous missense variants, with the exception of one large in-frame deletion of exon 7. Cell line studies showed the variants resulted in reduced protein stability and downstream cellular defects which could be rescued by wild-type CIAO1. Electron microscopy of skeletal muscle demonstrated abnormal assembly of mitochondrial respiratory chain complexes.
Sources: Literature
Mitochondrial disease v0.934 FBXL4 Bryony Thompson Marked gene: FBXL4 as ready
Mitochondrial disease v0.934 FBXL4 Bryony Thompson Gene: fbxl4 has been classified as Green List (High Evidence).
Mitochondrial disease v0.934 FBXL4 Bryony Thompson Publications for gene: FBXL4 were set to
Mitochondrial disease v0.933 FBXL4 Bryony Thompson Phenotypes for gene: FBXL4 were changed from to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471
Mitochondrial disease v0.932 FBXL4 Bryony Thompson Mode of inheritance for gene: FBXL4 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.931 FBXL4 Bryony Thompson Mode of inheritance for gene: FBXL4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.930 MRPL42 Bryony Thompson Marked gene: MRPL42 as ready
Mitochondrial disease v0.930 MRPL42 Bryony Thompson Gene: mrpl42 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.930 MRPL42 Bryony Thompson Classified gene: MRPL42 as Red List (low evidence)
Mitochondrial disease v0.930 MRPL42 Bryony Thompson Gene: mrpl42 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.929 MRPL42 Mark Cleghorn gene: MRPL42 was added
gene: MRPL42 was added to Mitochondrial disease. Sources: Other
Mode of inheritance for gene: MRPL42 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPL42 were set to complex neurodevelopmental disorder MONDO:0100038
Penetrance for gene: MRPL42 were set to unknown
Review for gene: MRPL42 was set to RED
Added comment: Bjorn Fischer-Zirnsak, Charite Berlin
ESHG presentation 4/6/24, unpublished

++ supportive functional data (on patient-derived cells) presented, but only 1 case

Biallelic MRPL42 LoF with lethal mitochondrial disease

Index case, born to consanguineous parents
Small
Hypotonia
Seizures
Conductive hearing impairment
CV: hypertrophic RV, small VSD
Hepatomegaly
Lactic acidosis

Homozygous MRPL42: c.219+6T>A (spliceAI 0.83 donor loss)
RNASeq and RT-PCR supportive of aberrant splicing resulting in out of frame exon 4 skipping
Sources: Other
Mitochondrial disease v0.929 PNPLA8 Zornitza Stark Phenotypes for gene: PNPLA8 were changed from Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related; Mitochondrial myopathy with lactic acidosis (MIM#251950), AR to Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related; Mitochondrial myopathy with lactic acidosis (MIM#251950), AR
Mitochondrial disease v0.928 PNPLA8 Zornitza Stark Phenotypes for gene: PNPLA8 were changed from Mitochondrial myopathy with lactic acidosis (MIM#251950), AR to Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related; Mitochondrial myopathy with lactic acidosis (MIM#251950), AR
Mitochondrial disease v0.927 SPATA5 Zornitza Stark Marked gene: SPATA5 as ready
Mitochondrial disease v0.927 SPATA5 Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is AFG2A
Mitochondrial disease v0.927 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.927 SPATA5 Zornitza Stark Tag new gene name tag was added to gene: SPATA5.
Mitochondrial disease v0.927 FDXR Zornitza Stark Marked gene: FDXR as ready
Mitochondrial disease v0.927 FDXR Zornitza Stark Gene: fdxr has been classified as Green List (High Evidence).
Mitochondrial disease v0.927 FDXR Zornitza Stark Phenotypes for gene: FDXR were changed from to Auditory neuropathy and optic atrophy, MIM#617717; Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887
Mitochondrial disease v0.926 FDXR Zornitza Stark Publications for gene: FDXR were set to
Mitochondrial disease v0.925 FDXR Zornitza Stark Mode of inheritance for gene: FDXR was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.924 FDXR Zornitza Stark Mode of inheritance for gene: FDXR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.923 FDXR Zornitza Stark edited their review of gene: FDXR: Added comment: Multiple reports of individuals with extra-ocular features, including ID and regression; microcephaly. Leigh-like presentation at the severe end of the spectrum.; Changed publications: 30250212, 28965846, 29040572, 33348459, 37046037, 37481223; Changed phenotypes: Auditory neuropathy and optic atrophy, MIM#617717, Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887
Mitochondrial disease v0.923 TMEM126A Bryony Thompson gene: TMEM126A was added
gene: TMEM126A was added to Mitochondrial disease. Sources: Expert Review Green
Mode of inheritance for gene: TMEM126A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM126A were set to 29884839; 33879611
Phenotypes for gene: TMEM126A were set to Disorders of complex I subunits and assembly factors; autosomal recessive optic atrophy, OPA7 type MONDO:0013069
Mitochondrial disease v0.923 VCP Bryony Thompson gene: VCP was added
gene: VCP was added to Mitochondrial disease. Sources: Expert Review Green
Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VCP were set to 29884839; 35273561; 37678339
Phenotypes for gene: VCP were set to inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0000507; Disorders of mitochondrial protein quality control
Mitochondrial disease v0.923 PRKN Bryony Thompson gene: PRKN was added
gene: PRKN was added to Mitochondrial disease. Sources: Expert Review Green
Mode of inheritance for gene: PRKN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKN were set to 29884839; 38069350
Phenotypes for gene: PRKN were set to Disorders of mitochondrial protein quality control; Parkinson disease MONDO:0005180
Mitochondrial disease v0.923 HSPA9 Bryony Thompson gene: HSPA9 was added
gene: HSPA9 was added to Mitochondrial disease. Sources: Expert Review Green
Mode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSPA9 were set to 29884839; 21123823; 26598328
Phenotypes for gene: HSPA9 were set to even-plus syndrome MONDO:0014801; Disorders of mitochondrial protein quality control
Mitochondrial disease v0.923 PAM16 Bryony Thompson gene: PAM16 was added
gene: PAM16 was added to Mitochondrial disease. Sources: Expert Review Green
Mode of inheritance for gene: PAM16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAM16 were set to 29884839; 24786642; 35385740; 36438081
Phenotypes for gene: PAM16 were set to autosomal recessive spondylometaphyseal dysplasia, Megarbane type MONDO:0013223; Disorders of mitochondrial protein import
Mitochondrial disease v0.923 PTRH2 Bryony Thompson gene: PTRH2 was added
gene: PTRH2 was added to Mitochondrial disease. Sources: Expert Review Green
Mode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTRH2 were set to 29884839; 37239392
Phenotypes for gene: PTRH2 were set to Miscellaneous disorders associated with mitochondrial dysfunction; neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:8000012
Mitochondrial disease v0.923 RMRP Bryony Thompson gene: RMRP was added
gene: RMRP was added to Mitochondrial disease. Sources: Expert Review Green
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RMRP were set to 29884839; 38337186
Phenotypes for gene: RMRP were set to Disorders of ribosomal biogenesis; cartilage-hair hypoplasia MONDO:0009595
Mitochondrial disease v0.923 SDHC Bryony Thompson gene: SDHC was added
gene: SDHC was added to Mitochondrial disease. Sources: Expert Review Red
Mode of inheritance for gene: SDHC was set to Unknown
Publications for gene: SDHC were set to 31469588; 29884839
Phenotypes for gene: SDHC were set to Mitochondrial disease MONDO:0044970
Mitochondrial disease v0.923 GPD1 Bryony Thompson gene: GPD1 was added
gene: GPD1 was added to Mitochondrial disease. Sources: Expert Review Green
Mode of inheritance for gene: GPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPD1 were set to 29884839; 35988808; 24549054
Phenotypes for gene: GPD1 were set to Disorders of mitochondrial shuttles and carriers; transient infantile hypertriglyceridemia and hepatosteatosis MONDO:0013771
Mitochondrial disease v0.923 L2HGDH Bryony Thompson gene: L2HGDH was added
gene: L2HGDH was added to Mitochondrial disease. Sources: Expert Review Green
Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: L2HGDH were set to 29884839; 37995940
Phenotypes for gene: L2HGDH were set to Disorders of mitochondrial metabolite repair; L-2-hydroxyglutaric aciduria MONDO:0009370
Mitochondrial disease v0.922 SPG7 Zornitza Stark Marked gene: SPG7 as ready
Mitochondrial disease v0.922 SPG7 Zornitza Stark Gene: spg7 has been classified as Green List (High Evidence).
Mitochondrial disease v0.922 SPG7 Zornitza Stark Phenotypes for gene: SPG7 were changed from to Spastic paraplegia 7, autosomal recessive, MIM# 607259; Autosomal dominant optic atrophy, MONDO:0020250
Mitochondrial disease v0.921 SPG7 Zornitza Stark Publications for gene: SPG7 were set to 9635427; 9635427; 16534102; 18799786; 22571692; 34500365; 33598982; 32548275; 24727571
Mitochondrial disease v0.920 SPG7 Zornitza Stark Publications for gene: SPG7 were set to
Mitochondrial disease v0.919 SPG7 Zornitza Stark Mode of inheritance for gene: SPG7 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.918 SPG7 Zornitza Stark edited their review of gene: SPG7: Added comment: Please note PEO can be a feature +/- multiple mito deletions in skeletal muscle. PMID 24727571; Changed publications: 9635427, 9635427, 16534102, 18799786, 22571692, 34500365, 33598982, 32548275, 24727571
Mitochondrial disease v0.918 ACO2 Zornitza Stark Publications for gene: ACO2 were set to 22405087; 25351951; 30689204; 32519519; 25351951
Mitochondrial disease v0.917 ACO2 Zornitza Stark Mode of inheritance for gene: ACO2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mitochondrial disease v0.916 ACO2 Rylee Peters reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34056600; Phenotypes: Optic atrophy 9, MIM# 616289; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mitochondrial disease v0.916 NDUFB9 Zornitza Stark Publications for gene: NDUFB9 were set to
Mitochondrial disease v0.915 NDUFB9 Chern Lim reviewed gene: NDUFB9: Rating: AMBER; Mode of pathogenicity: None; Publications: 38129218; Phenotypes: Mitochondrial complex I deficiency, nuclear type 24, MIM#618245; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disease v0.915 OPA3 Bryony Thompson Marked gene: OPA3 as ready
Mitochondrial disease v0.915 OPA3 Bryony Thompson Gene: opa3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.915 OPA3 Bryony Thompson Phenotypes for gene: OPA3 were changed from to 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR; Optic atrophy 3 with cataract (MIM#165300), AD
Mitochondrial disease v0.914 OPA3 Bryony Thompson Publications for gene: OPA3 were set to
Mitochondrial disease v0.913 OPA3 Bryony Thompson Mode of inheritance for gene: OPA3 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mitochondrial disease v0.912 COQ4 Zornitza Stark Phenotypes for gene: COQ4 were changed from Coenzyme Q10 deficiency, primary, 7, MIM# 616276 to Coenzyme Q10 deficiency, primary, 7, MIM# 616276; Spastic ataxia 10, autosomal recessive, MIM# 620666
Mitochondrial disease v0.911 COQ4 Zornitza Stark Publications for gene: COQ4 were set to 25658047; 26185144; 33704555
Mitochondrial disease v0.910 COQ4 Zornitza Stark edited their review of gene: COQ4: Added comment: PMIDs 36047608;38014483;38013626: more than 10 families reported with more limited spastic ataxia phenotype, onset from infancy to adulthood.; Changed publications: 25658047, 26185144, 33704555, 36047608, 38014483, 38013626; Changed phenotypes: Coenzyme Q10 deficiency, primary, 7, MIM# 616276, Spastic ataxia 10, autosomal recessive, MIM# 620666
Mitochondrial disease v0.910 AFG3L2 Zornitza Stark Marked gene: AFG3L2 as ready
Mitochondrial disease v0.910 AFG3L2 Zornitza Stark Gene: afg3l2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.910 AFG3L2 Zornitza Stark Phenotypes for gene: AFG3L2 were changed from Spastic ataxia 5, autosomal recessive (MIM#614487); Spinocerebellar ataxia 28 (MIM#610246); Optic atrophy 12, MIM# 618977 to Spastic ataxia 5, autosomal recessive (MIM#614487); Spinocerebellar ataxia 28 (MIM#610246); Optic atrophy 12, MIM# 618977
Mitochondrial disease v0.909 AFG3L2 Zornitza Stark Phenotypes for gene: AFG3L2 were changed from to Spastic ataxia 5, autosomal recessive (MIM#614487); Spinocerebellar ataxia 28 (MIM#610246); Optic atrophy 12, MIM# 618977
Mitochondrial disease v0.908 AFG3L2 Zornitza Stark Publications for gene: AFG3L2 were set to
Mitochondrial disease v0.907 AFG3L2 Zornitza Stark Mode of inheritance for gene: AFG3L2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.906 RRM1 Zornitza Stark Phenotypes for gene: RRM1 were changed from Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6, MIM# 620647 to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6, MIM# 620647
Mitochondrial disease v0.905 RRM1 Zornitza Stark Phenotypes for gene: RRM1 were changed from Multiple mitochondrial DNA deletion syndrome (MONDO:0016797) to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6, MIM# 620647
Mitochondrial disease v0.904 AMACR Zornitza Stark Marked gene: AMACR as ready
Mitochondrial disease v0.904 AMACR Zornitza Stark Gene: amacr has been classified as Green List (High Evidence).
Mitochondrial disease v0.904 AMACR Zornitza Stark Classified gene: AMACR as Green List (high evidence)
Mitochondrial disease v0.904 AMACR Zornitza Stark Gene: amacr has been classified as Green List (High Evidence).
Mitochondrial disease v0.903 AMACR Zornitza Stark Classified gene: AMACR as Green List (high evidence)
Mitochondrial disease v0.903 AMACR Zornitza Stark Gene: amacr has been classified as Green List (High Evidence).
Mitochondrial disease v0.902 AMACR Zornitza Stark gene: AMACR was added
gene: AMACR was added to Mitochondrial disease. Sources: Expert Review
Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMACR were set to 35641312; 35428665
Phenotypes for gene: AMACR were set to Bile acid synthesis defect, congenital, 4, MIM# 214950; Alpha-methylacyl-CoA racemase deficiency, MIM# 614307
Review for gene: AMACR was set to GREEN
Added comment: Mito disease mimic, repeatedly identified in cohorts of patients undergoing testing for suspected mitochondrial disease.
Sources: Expert Review
Mitochondrial disease v0.901 RANBP2 Zornitza Stark Marked gene: RANBP2 as ready
Mitochondrial disease v0.901 RANBP2 Zornitza Stark Gene: ranbp2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.901 RANBP2 Zornitza Stark Classified gene: RANBP2 as Green List (high evidence)
Mitochondrial disease v0.901 RANBP2 Zornitza Stark Gene: ranbp2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.900 RANBP2 Zornitza Stark gene: RANBP2 was added
gene: RANBP2 was added to Mitochondrial disease. Sources: Expert Review
Mode of inheritance for gene: RANBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RANBP2 were set to {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033
Review for gene: RANBP2 was set to GREEN
Added comment: Not a mitochondrial condition, but significant overlap in clinical presentation, described as Leigh-like previously.
Sources: Expert Review
Mitochondrial disease v0.899 RNF213 Seb Lunke Marked gene: RNF213 as ready
Mitochondrial disease v0.899 RNF213 Seb Lunke Gene: rnf213 has been classified as Green List (High Evidence).
Mitochondrial disease v0.899 RNF213 Seb Lunke Classified gene: RNF213 as Green List (high evidence)
Mitochondrial disease v0.899 RNF213 Seb Lunke Gene: rnf213 has been classified as Green List (High Evidence).
Mitochondrial disease v0.898 RNF213 Seb Lunke Classified gene: RNF213 as Green List (high evidence)
Mitochondrial disease v0.898 RNF213 Seb Lunke Gene: rnf213 has been classified as Green List (High Evidence).
Mitochondrial disease v0.897 RNF213 Seb Lunke gene: RNF213 was added
gene: RNF213 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: RNF213 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNF213 were set to 37924258
Phenotypes for gene: RNF213 were set to Moyamoya disease, MONDO:0016820; pediatric arterial ischemic stroke, MONDO:0018585
Review for gene: RNF213 was set to GREEN
Added comment: 14 individuals from 13 unrelated families with (de novo) missensevariants in RNF213 clustering within or around the RING domain. Individuals presented either with early-onset stroke (n=11) or with Leigh syndrome like symptoms (n=3). No genotype-phenotype correlation could be established. Common features included Global Developmental Delay and Seizures, increased serum lactate, ischemic stroke, and carotid/cerebral artery stenosis. Onset of symptoms generally in the first 6 months of life. Moyamoya phenomenon was present in 10/13 individuals.
Sources: Literature
Mitochondrial disease v0.896 MRPL39 Zornitza Stark Phenotypes for gene: MRPL39 were changed from Mitochondrial disease MONDO:0044970 to Combined oxidative phosphorylation deficiency-59 (COXPD59), MIM#620646
Mitochondrial disease v0.895 MRPL39 Zornitza Stark reviewed gene: MRPL39: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency-59 (COXPD59), MIM#620646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.895 TANGO2 Zornitza Stark Marked gene: TANGO2 as ready
Mitochondrial disease v0.895 TANGO2 Zornitza Stark Gene: tango2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.895 TANGO2 Zornitza Stark Classified gene: TANGO2 as Green List (high evidence)
Mitochondrial disease v0.895 TANGO2 Zornitza Stark Gene: tango2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.894 TANGO2 Zornitza Stark gene: TANGO2 was added
gene: TANGO2 was added to Mitochondrial disease. Sources: Expert Review
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878
Review for gene: TANGO2 was set to GREEN
Added comment: Large phenotypic overlap with mitochondrial disease.
Sources: Expert Review
Mitochondrial disease v0.893 MECR Zornitza Stark edited their review of gene: MECR: Changed phenotypes: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282, MONDO:0015003, Optic atrophy 16, MIM# 620629
Mitochondrial disease v0.893 TOMM7 Zornitza Stark Phenotypes for gene: TOMM7 were changed from Inborn mitochondrial disorder MONDO:0004069, TOMM7-related to Garg-Mishra progeroid syndrome, MIM# 620601
Mitochondrial disease v0.892 TOMM7 Zornitza Stark edited their review of gene: TOMM7: Changed phenotypes: Garg-Mishra progeroid syndrome, MIM# 620601
Mitochondrial disease v0.892 MIEF1 Seb Lunke Marked gene: MIEF1 as ready
Mitochondrial disease v0.892 MIEF1 Seb Lunke Gene: mief1 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.892 MIEF1 Seb Lunke Classified gene: MIEF1 as Red List (low evidence)
Mitochondrial disease v0.892 MIEF1 Seb Lunke Added comment: Comment on list classification: Two patients but both missense and one with a few too many hets. Functional data not quite strong enough.
Mitochondrial disease v0.892 MIEF1 Seb Lunke Gene: mief1 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.892 MIEF1 Seb Lunke Classified gene: MIEF1 as Red List (low evidence)
Mitochondrial disease v0.892 MIEF1 Seb Lunke Added comment: Comment on list classification: Two patients but both missense and one with a few too many hets. Functional data not quite strong enough.
Mitochondrial disease v0.892 MIEF1 Seb Lunke Gene: mief1 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.891 MIEF1 Lucy Spencer gene: MIEF1 was added
gene: MIEF1 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: MIEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MIEF1 were set to 33632269
Phenotypes for gene: MIEF1 were set to Optic atrophy 14 (MIM#620550)
Review for gene: MIEF1 was set to AMBER
Added comment: PMID: 33632269
Inherited optic neuropathies cohort from france with nothing found in OPA1, OPA3 and WFS1 or mtDNA. 2 individuals (55 and 47yo) found to have missense variants in MIEF1, p.Arg146Trp has 35 hets 0 homs in gnomad, p.Tyr240Asn is absent. Both have non-syndromic late onset inherited optic neuropathies characterized by initial loss of peripheral visual fields.

Functional studies in HeLa cells- both missense localised to the mitochondria and formed oligomers similar to WT. MIEF1 normally regulates mitochondrial fission dynamics and causes an increase in mitochondrial fusion events, however both missense variants caused a significantly decreased mitochondrial fusion events.
Sources: Literature
Mitochondrial disease v0.891 APOO Zornitza Stark Phenotypes for gene: APOO were changed from Developmental delay; Lactic acidosis; Muscle weakness; Hypotonia; Repetitive infections; Cognitive impairment; Autistic behaviour to Mitochondrial disease, MONDO:0044970, APOO-related; Developmental delay; Lactic acidosis; Muscle weakness; Hypotonia; Repetitive infections; Cognitive impairment; Autistic behaviour
Mitochondrial disease v0.890 APOO Zornitza Stark Publications for gene: APOO were set to 32439808
Mitochondrial disease v0.889 APOO Zornitza Stark edited their review of gene: APOO: Changed phenotypes: Mitochondrial disease, MONDO:0044970, APOO-related, Developmental delay, Lactic acidosis, Muscle weakness, Hypotonia, Repetitive infections, Cognitive impairment, Autistic behaviour
Mitochondrial disease v0.889 APOO Karina Sandoval reviewed gene: APOO: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 37649161; Phenotypes: agenesis of the corpus callosum, bilateral congenital cataract, hypothyroidism, severe immune deficiencies; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mitochondrial disease v0.889 PTCD3 Zornitza Stark Publications for gene: PTCD3 were set to 30607703; 19427859
Mitochondrial disease v0.888 PTCD3 Zornitza Stark Classified gene: PTCD3 as Green List (high evidence)
Mitochondrial disease v0.888 PTCD3 Zornitza Stark Gene: ptcd3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.887 PTCD3 Zornitza Stark edited their review of gene: PTCD3: Added comment: Three additional families reported.; Changed rating: GREEN; Changed publications: 36450274
Mitochondrial disease v0.887 MRM2 Zornitza Stark Phenotypes for gene: MRM2 were changed from MELAS-like to Mitochondrial DNA depletion syndrome 17, MIM# 618567
Mitochondrial disease v0.886 MRM2 Zornitza Stark Publications for gene: MRM2 were set to 28973171
Mitochondrial disease v0.885 MRM2 Zornitza Stark Classified gene: MRM2 as Green List (high evidence)
Mitochondrial disease v0.885 MRM2 Zornitza Stark Gene: mrm2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.884 MRM2 Zornitza Stark edited their review of gene: MRM2: Added comment: Two additional families reported.; Changed rating: GREEN; Changed publications: 28973171, 36002240
Mitochondrial disease v0.884 COX5A Zornitza Stark Publications for gene: COX5A were set to 28247525; 35246835
Mitochondrial disease v0.884 COX5A Zornitza Stark Publications for gene: COX5A were set to 28247525
Mitochondrial disease v0.883 COX5A Zornitza Stark Classified gene: COX5A as Amber List (moderate evidence)
Mitochondrial disease v0.883 COX5A Zornitza Stark Gene: cox5a has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.882 COX5A Zornitza Stark edited their review of gene: COX5A: Added comment: Second family reported, albeit hmz missense.; Changed rating: AMBER; Changed publications: 35246835
Mitochondrial disease v0.882 COX18 Elena Savva Classified gene: COX18 as Red List (low evidence)
Mitochondrial disease v0.882 COX18 Elena Savva Gene: cox18 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.882 COX18 Elena Savva Classified gene: COX18 as Red List (low evidence)
Mitochondrial disease v0.882 COX18 Elena Savva Gene: cox18 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.881 COX18 Elena Savva Classified gene: COX18 as Red List (low evidence)
Mitochondrial disease v0.881 COX18 Elena Savva Gene: cox18 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.881 COX18 Elena Savva Classified gene: COX18 as Red List (low evidence)
Mitochondrial disease v0.881 COX18 Elena Savva Gene: cox18 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.881 COX18 Elena Savva Classified gene: COX18 as Red List (low evidence)
Mitochondrial disease v0.881 COX18 Elena Savva Gene: cox18 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.880 COX18 Elena Savva Marked gene: COX18 as ready
Mitochondrial disease v0.880 COX18 Elena Savva Gene: cox18 has been removed from the panel.
Mitochondrial disease v0.880 COX18 Naomi Baker gene: COX18 was added
gene: COX18 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: COX18 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX18 were set to PMID:37468577
Phenotypes for gene: COX18 were set to Mitochondrial disease (MONDO:0044970), COX18-related
Review for gene: COX18 was set to RED
Added comment: Paper reports a single patient with a homozygous COX18 missense variant, with a neonatal form of mitochondrial hypertrophic cardiomyopathy, lactic acidosis, failure to thrive and neurological involvement associated with severe skeletal muscle COX deficiency. Functional studies demonstrated COX deficiency which could be partially rescued with over-expression of COX18.
Sources: Literature
Mitochondrial disease v0.880 PYROXD2 Zornitza Stark Classified gene: PYROXD2 as Red List (low evidence)
Mitochondrial disease v0.880 PYROXD2 Zornitza Stark Gene: pyroxd2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.879 PYROXD2 Zornitza Stark Tag disputed tag was added to gene: PYROXD2.
Mitochondrial disease v0.879 PYROXD2 Zornitza Stark edited their review of gene: PYROXD2: Added comment: Alternative diagnosis identified in proband, downgrade.; Changed rating: RED
Mitochondrial disease v0.879 TEFM Zornitza Stark Phenotypes for gene: TEFM were changed from Combined oxidative phosphorylation deficiency 58, MIM# 620451 to Combined oxidative phosphorylation deficiency 58, MIM# 620451
Mitochondrial disease v0.878 TEFM Zornitza Stark Phenotypes for gene: TEFM were changed from Combined oxidative phosphorylation deficiency 58, MIM# 620451 to Combined oxidative phosphorylation deficiency 58, MIM# 620451
Mitochondrial disease v0.878 TEFM Zornitza Stark Phenotypes for gene: TEFM were changed from Mitochondrial disease (MONDO#0044970), TEFM-related to Combined oxidative phosphorylation deficiency 58, MIM# 620451
Mitochondrial disease v0.877 GCSH Zornitza Stark Marked gene: GCSH as ready
Mitochondrial disease v0.877 GCSH Zornitza Stark Gene: gcsh has been classified as Green List (High Evidence).
Mitochondrial disease v0.877 GCSH Zornitza Stark Classified gene: GCSH as Green List (high evidence)
Mitochondrial disease v0.877 GCSH Zornitza Stark Gene: gcsh has been classified as Green List (High Evidence).
Mitochondrial disease v0.876 GCSH Zornitza Stark gene: GCSH was added
gene: GCSH was added to Mitochondrial disease. Sources: Expert Review
Mode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GCSH were set to 33890291; 36190515
Phenotypes for gene: GCSH were set to Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423
Review for gene: GCSH was set to GREEN
Added comment: 7 unrelated families reported. Phenotype ranges from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, behavioral problems, limited epilepsy and variable movement problems.
Sources: Expert Review
Mitochondrial disease v0.875 MRPL50 Zornitza Stark Marked gene: MRPL50 as ready
Mitochondrial disease v0.875 MRPL50 Zornitza Stark Gene: mrpl50 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.875 MRPL50 Zornitza Stark Classified gene: MRPL50 as Amber List (moderate evidence)
Mitochondrial disease v0.875 MRPL50 Zornitza Stark Gene: mrpl50 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.874 MRPL50 Anna Ritchie gene: MRPL50 was added
gene: MRPL50 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: MRPL50 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPL50 were set to PMID: 37148394
Phenotypes for gene: MRPL50 were set to Mitochondrial disease, MONDO: 004470, MRPL50-related
Review for gene: MRPL50 was set to AMBER
Added comment: A homozygous missense variant (c.335T>A; p.Val112Asp) shared by twin sisters presenting with premature ovarian insufficiency, bilateral high-frequency sensorineural hearing loss, kidney and heart dysfunction.
Quantitative proteomics data demonstrated a significant reduction in abundance of MRPL50 protein when compared with controls.
Patient fibroblasts have a mild but significant decrease in the abundance of mitochondrial complex I. This data supports a biochemical phenotype associated with MRPL50 variants.
Knockdown/knockout of mRpL50 in Drosophila, resulted abnormal ovarian development.
Sources: Literature
Mitochondrial disease v0.874 NDUFA13 Zornitza Stark Classified gene: NDUFA13 as Green List (high evidence)
Mitochondrial disease v0.874 NDUFA13 Zornitza Stark Gene: ndufa13 has been classified as Green List (High Evidence).
Mitochondrial disease v0.873 PINK1 Bryony Thompson Marked gene: PINK1 as ready
Mitochondrial disease v0.873 PINK1 Bryony Thompson Gene: pink1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.873 PINK1 Bryony Thompson Phenotypes for gene: PINK1 were changed from to Parkinson disease 6, early onset, MIM# 605909
Mitochondrial disease v0.872 PINK1 Bryony Thompson Publications for gene: PINK1 were set to
Mitochondrial disease v0.871 PINK1 Bryony Thompson Classified gene: PINK1 as Green List (high evidence)
Mitochondrial disease v0.871 PINK1 Bryony Thompson Added comment: Comment on list classification: ICIMD Nosology Group
Disorders of mitochondrial protein quality control
Mitochondrial disease v0.871 PINK1 Bryony Thompson Gene: pink1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.869 PINK1 Bryony Thompson gene: PINK1 was added
gene: PINK1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: PINK1 was set to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.868 NDUFA13 Lucy Spencer reviewed gene: NDUFA13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 28, MIM# 618249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.868 ATP5O Zornitza Stark Marked gene: ATP5O as ready
Mitochondrial disease v0.868 ATP5O Zornitza Stark Gene: atp5o has been classified as Green List (High Evidence).
Mitochondrial disease v0.868 ATP5O Zornitza Stark Classified gene: ATP5O as Green List (high evidence)
Mitochondrial disease v0.868 ATP5O Zornitza Stark Gene: atp5o has been classified as Green List (High Evidence).
Mitochondrial disease v0.867 ATP5O Zornitza Stark gene: ATP5O was added
gene: ATP5O was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: ATP5O was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP5O were set to 34954817; 35621276
Phenotypes for gene: ATP5O were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359
Review for gene: ATP5O was set to GREEN
Added comment: 4 individuals from three unrelated families reported. Onset in infancy. Features included intrauterine growth retardation, hypotonia, neonatal respiratory distress, and global developmental delay, seizures.
Sources: Literature
Mitochondrial disease v0.866 MRPL39 Zornitza Stark Phenotypes for gene: MRPL39 were changed from Mitochondrial disease MONDO:0044970 to Mitochondrial disease MONDO:0044970
Mitochondrial disease v0.866 MRPL39 Zornitza Stark Phenotypes for gene: MRPL39 were changed from Mitochondrial disease MONDO:0044970 to Mitochondrial disease MONDO:0044970
Mitochondrial disease v0.866 MRPL39 Zornitza Stark Marked gene: MRPL39 as ready
Mitochondrial disease v0.866 MRPL39 Zornitza Stark Gene: mrpl39 has been classified as Green List (High Evidence).
Mitochondrial disease v0.866 MRPL39 Zornitza Stark Phenotypes for gene: MRPL39 were changed from Leigh Syndrome MONDO:0009723 to Mitochondrial disease MONDO:0044970
Mitochondrial disease v0.865 MRPL39 Zornitza Stark Classified gene: MRPL39 as Green List (high evidence)
Mitochondrial disease v0.865 MRPL39 Zornitza Stark Gene: mrpl39 has been classified as Green List (High Evidence).
Mitochondrial disease v0.865 MRPL39 Zornitza Stark Classified gene: MRPL39 as Green List (high evidence)
Mitochondrial disease v0.865 MRPL39 Zornitza Stark Gene: mrpl39 has been classified as Green List (High Evidence).
Mitochondrial disease v0.865 MRPL39 Zornitza Stark Classified gene: MRPL39 as Green List (high evidence)
Mitochondrial disease v0.865 MRPL39 Zornitza Stark Gene: mrpl39 has been classified as Green List (High Evidence).
Mitochondrial disease v0.864 MRPL39 Lilian Downie edited their review of gene: MRPL39: Changed phenotypes: Mitochondrial disease MONDO:0044970
Mitochondrial disease v0.864 MRPL39 Lilian Downie gene: MRPL39 was added
gene: MRPL39 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: MRPL39 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPL39 were set to PMID: 37133451
Phenotypes for gene: MRPL39 were set to Leigh Syndrome MONDO:0009723
Review for gene: MRPL39 was set to GREEN
Added comment: 3 unrelated individuals, confirmed variants in trans
Functional studies on patient fibroblasts
Multisystem disease, variable onset
2x infants with a clinical diagnosis of Leigh syndrome (congestive cardiac
failure, increased lactates, seizures, apnea, poor feeding, and global developmental delay, leading
to early death (< 1 year of age))
Adult with hypertrophic cardiomyopathy, lactic acidosis, ADHD
Sources: Literature
Mitochondrial disease v0.864 SLC25A36 Bryony Thompson Marked gene: SLC25A36 as ready
Mitochondrial disease v0.864 SLC25A36 Bryony Thompson Gene: slc25a36 has been classified as Green List (High Evidence).
Mitochondrial disease v0.864 SLC25A36 Bryony Thompson Classified gene: SLC25A36 as Green List (high evidence)
Mitochondrial disease v0.864 SLC25A36 Bryony Thompson Gene: slc25a36 has been classified as Green List (High Evidence).
Mitochondrial disease v0.863 PPCS Bryony Thompson Publications for gene: PPCS were set to 29754768
Mitochondrial disease v0.863 PPCS Bryony Thompson Classified gene: PPCS as Green List (high evidence)
Mitochondrial disease v0.863 PPCS Bryony Thompson Gene: ppcs has been classified as Green List (High Evidence).
Mitochondrial disease v0.862 ATP5E Bryony Thompson Publications for gene: ATP5E were set to 20566710; 27626380; 20026007
Mitochondrial disease v0.861 ATP5E Bryony Thompson Classified gene: ATP5E as Green List (high evidence)
Mitochondrial disease v0.861 ATP5E Bryony Thompson Gene: atp5e has been classified as Green List (High Evidence).
Mitochondrial disease v0.859 ATP5B Zornitza Stark Marked gene: ATP5B as ready
Mitochondrial disease v0.859 ATP5B Zornitza Stark Gene: atp5b has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.859 ATP5B Zornitza Stark Classified gene: ATP5B as Amber List (moderate evidence)
Mitochondrial disease v0.859 ATP5B Zornitza Stark Gene: atp5b has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.858 ATP5B Zornitza Stark gene: ATP5B was added
gene: ATP5B was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: ATP5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP5B were set to 36860166; 36239646
Phenotypes for gene: ATP5B were set to Inherited dystonia, MONDO:0044807, ATP5B-related
Review for gene: ATP5B was set to AMBER
Added comment: PMID 36860166: Two families, clinical presentation with dystonia; incomplete penetrance observed. Some functional data.

ATP5F1B is a subunit of the mitochondrial ATP synthase or complex V of the mitochondrial respiratory chain.

Note also PMID 36239646 reporting de novo variant in identical twins with hypermetabolism.
Sources: Literature
Mitochondrial disease v0.857 TEFM Zornitza Stark Marked gene: TEFM as ready
Mitochondrial disease v0.857 TEFM Zornitza Stark Gene: tefm has been classified as Green List (High Evidence).
Mitochondrial disease v0.857 TEFM Zornitza Stark Classified gene: TEFM as Green List (high evidence)
Mitochondrial disease v0.857 TEFM Zornitza Stark Gene: tefm has been classified as Green List (High Evidence).
Mitochondrial disease v0.856 SLC25A36 Krithika Murali gene: SLC25A36 was added
gene: SLC25A36 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: SLC25A36 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A36 were set to 34971397; 34576089; 31036718
Phenotypes for gene: SLC25A36 were set to Hyperinsulinemic hypoglycemia, familial, 8 - MIM#620211
Review for gene: SLC25A36 was set to GREEN
Added comment: Solute carrier family 25 members 33 (SLC25A33) and 36 (SLC25A36) are the only known mitochondrial pyrimidine nucleotide carriers in humans

PMID: 34971397 Sharoor et al 2022 report 2 siblings with hyperinsulinism, hypoglycemia and hyperammonemia from early infancy with homozygous SLC25A36 c.284 + 3 A > T variant identified through WES. Functional studies support LoF.

PMID: 34576089 report a 12-year-old patient with hypothyroidism, hyperinsulinism, hyperammonemia, chronical obstipation, short stature, along with language and general developmental delay. WES identified SLC25A36 gene homozygous c.803dupT, p.Ser269llefs*35 variant. Functional analysis of mutant SLC25A36 protein in proteoliposomes showed a virtually abolished transport activity. Immunoblotting results suggest that the mutant SLC25A36 protein in the patient undergoes fast degradation. Supplementation with uridine lead to some improvement in clinical course.

PMID: 31036718 deficiencies in SLC25A36 in mouse embryonic stem cells have been associated with mtDNA depletion as well as mitochondrial dysfunction
Sources: Literature
Mitochondrial disease v0.856 TEFM Ee Ming Wong gene: TEFM was added
gene: TEFM was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: TEFM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TEFM were set to 36823193
Phenotypes for gene: TEFM were set to Mitochondrial disease (MONDO#0044970), TEFM-related
Review for gene: TEFM was set to GREEN
gene: TEFM was marked as current diagnostic
Added comment: - Seven TEFM variants (4 missense, 2 fs, 1 in-frame del) in seven individuals across five unrelated families
- Muscle and primary fibroblast from the affected individuals have reduced levels of promoter distal mitochondrial RNA transcripts
- TEFM knockdown in zebrafish embryos resulted in neuromuscular junction abnormalities and abnormal mitochondrial function
Sources: Literature
Mitochondrial disease v0.856 MRPS7 Zornitza Stark Publications for gene: MRPS7 were set to 25556185
Mitochondrial disease v0.855 MRPS7 Zornitza Stark Classified gene: MRPS7 as Amber List (moderate evidence)
Mitochondrial disease v0.855 MRPS7 Zornitza Stark Gene: mrps7 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.854 MRPS7 Elena Tucker reviewed gene: MRPS7: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 36421788, 25556185; Phenotypes: sensorineural deafness, renal failure, liver failure, primary ovarian insufficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.854 OGDH Zornitza Stark Classified gene: OGDH as Green List (high evidence)
Mitochondrial disease v0.854 OGDH Zornitza Stark Gene: ogdh has been classified as Green List (High Evidence).
Mitochondrial disease v0.853 OGDH Zornitza Stark Classified gene: OGDH as Green List (high evidence)
Mitochondrial disease v0.853 OGDH Zornitza Stark Gene: ogdh has been classified as Green List (High Evidence).
Mitochondrial disease v0.852 OGDH Sarah Pantaleo reviewed gene: OGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36520152; Phenotypes: Oxoglutarate dehydrogenase deficiency, MIM# 203740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.852 CRLS1 Zornitza Stark Phenotypes for gene: CRLS1 were changed from Mitochondrial disease MONDO:0044970 CRLS1-related to Combined oxidative phosphorylation deficiency 57, MIM# 620167
Mitochondrial disease v0.851 Zornitza Stark HPO terms changed from to Increased serum lactate, HP:0002151; Abnormality of mitochondrial metabolism, HP:0003287
List of related panels changed from to Increased serum lactate; HP:0002151; Abnormality of mitochondrial metabolism; HP:0003287
Mitochondrial disease v0.850 TIMMDC1 Zornitza Stark Classified gene: TIMMDC1 as Green List (high evidence)
Mitochondrial disease v0.850 TIMMDC1 Zornitza Stark Gene: timmdc1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.849 MPC2 Zornitza Stark Marked gene: MPC2 as ready
Mitochondrial disease v0.849 MPC2 Zornitza Stark Gene: mpc2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.849 MPC2 Zornitza Stark Classified gene: MPC2 as Amber List (moderate evidence)
Mitochondrial disease v0.849 MPC2 Zornitza Stark Gene: mpc2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.848 TIMMDC1 Paul De Fazio changed review comment from: PMID:36349561 report the same homozygous missense variant p.(Arg137His) was identified in 4 fetuses from 2 families terminated for corpus callosum defects. Autopsies showed global hypotrophy and similar facial dysmorphism with coarse face, microcephaly, and microlissencephaly or gyration delay. All 4 fetuses were diagnosed with complete agenesis of CC. Immunoblot analyses of muscle homogenates revealed a strong reduction in the abundance of the TIMMDC1 protein. There was decreased abundance of complex I subunits in muscle tissue.

PMID:33278652 reported two siblings from a Dutch family presenting in infancy with hypotonia and respiratory insufficiency and a rapidly progressive and fatal disease course. A muscle biopsy demonstrated complex I deficiency in brother 2. Each was compound het for the NMD-predicted variant p.(Arg129*) and the previously reported recurrent deep intronic variant c.596+2146A>G.

In total, 3 variants in 6 families with mitochondrial complex I deficiency have been reported.; to: PMID:36349561 report the same homozygous missense variant p.(Arg137His) was identified in 4 fetuses from 2 families terminated for corpus callosum defects. Autopsies showed global hypotrophy and similar facial dysmorphism with coarse face, microcephaly, and microlissencephaly or gyration delay. All 4 fetuses were diagnosed with complete agenesis of CC. Immunoblot analyses of muscle homogenates revealed a strong reduction in the abundance of the TIMMDC1 protein. There was decreased abundance of complex I subunits in muscle tissue.

PMID:33278652 reported two siblings from a Dutch family presenting in infancy with hypotonia and respiratory insufficiency and a rapidly progressive and fatal disease course. A muscle biopsy demonstrated complex I deficiency in brother 2. Each was compound het for the NMD-predicted variant p.(Arg129*) and the previously reported recurrent deep intronic variant c.596+2146A>G.

In total, 3 variants in 6 families with mitochondrial complex I deficiency have been reported. A deep intronic variant shown to affect splicing is recurrent.
Mitochondrial disease v0.848 TIMMDC1 Paul De Fazio reviewed gene: TIMMDC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36349561, 33278652; Phenotypes: Mitochondrial complex I deficiency, nuclear type 31 MIM#618251; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disease v0.848 MPC2 Naomi Baker gene: MPC2 was added
gene: MPC2 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: MPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPC2 were set to 36417180
Phenotypes for gene: MPC2 were set to mitochondrial pyruvate carrier deficiency, MONDO:0013877, MPC2-related
Review for gene: MPC2 was set to AMBER
Added comment: Four patients from two unrelated consanguineous families reported with homozygous variants (missense and stop-loss). Siblings from family 1 were diagnosed prenatally with diffuse subcutaneous oedema, cardiomegaly, corpus callosum agenesis, ventriculomegaly and hypoplasia of the cerebellum. Siblings from family 2 had slightly different presentations, which included anoxo-ischemic encephalopathy, isolated dyspnea, neonatal respiratory distress, neonatal jaundice, hypotonia, visual impairment, microcephaly; both siblings had severe delayed psychomotor development. Immunoblot analysis of protein expression in lysates from patient-derived fibroblasts demonstrated reduced MPC1 and MPC2 protein levels.
Sources: Literature
Mitochondrial disease v0.848 UQCRH Zornitza Stark Classified gene: UQCRH as Amber List (moderate evidence)
Mitochondrial disease v0.848 UQCRH Zornitza Stark Gene: uqcrh has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.847 UQCRH Zornitza Stark Marked gene: UQCRH as ready
Mitochondrial disease v0.847 UQCRH Zornitza Stark Gene: uqcrh has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.847 UQCRH Zornitza Stark Classified gene: UQCRH as Amber List (moderate evidence)
Mitochondrial disease v0.847 UQCRH Zornitza Stark Gene: uqcrh has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.846 UQCRH Chern Lim gene: UQCRH was added
gene: UQCRH was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: UQCRH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCRH were set to 34750991
Phenotypes for gene: UQCRH were set to Mitochondrial complex III deficiency, nuclear type 11, MIM#620137
Review for gene: UQCRH was set to AMBER
gene: UQCRH was marked as current diagnostic
Added comment: PMID: 34750991:
- Two affected cousins, presented with recurrent episodes of severe lactic acidosis, hyperammonaemia, hypoglycaemia and encephalopathy.
- Both have a 2.2 kb homozygous deletion of exons 2 and 3 of UQCRH, predicted to culminate in an in-frame deletion exons 2 and 3 of the four-exon UQCRH gene, resulting in a shortened product.
- Mouse model with the equivalent homozygous Uqcrh deletion (Uqcrh-/-) also presented with lactic acidosis and hyperammonaemia, but had a more severe, non-episodic phenotype, resulting in failure to thrive and early death.
- Patient fibroblasts and Uqcrh-/- mouse tissues showed a CIII defect.
- Expression of wild-type UQCRH in patient fibroblasts ameliorates the CIII defect.
Sources: Literature
Mitochondrial disease v0.846 TAMM41 Zornitza Stark Phenotypes for gene: TAMM41 were changed from Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139; hypotonia; developmental delay; myopathy; ptosis to Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139; hypotonia; developmental delay; myopathy; ptosis
Mitochondrial disease v0.845 TAMM41 Zornitza Stark Phenotypes for gene: TAMM41 were changed from inborn mitochondrial metabolism disorder MONDO:0004069; hypotonia; developmental delay; myopathy; ptosis to Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139; hypotonia; developmental delay; myopathy; ptosis
Mitochondrial disease v0.844 TAMM41 Zornitza Stark reviewed gene: TAMM41: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.844 NDUFB7 Zornitza Stark reviewed gene: NDUFB7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.844 ATP5F1 Zornitza Stark Marked gene: ATP5F1 as ready
Mitochondrial disease v0.844 ATP5F1 Zornitza Stark Gene: atp5f1 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.844 ATP5F1 Zornitza Stark gene: ATP5F1 was added
gene: ATP5F1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: ATP5F1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP5F1 were set to 36239646
Phenotypes for gene: ATP5F1 were set to Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation-2 (HUMOP2), MIM#620085
Review for gene: ATP5F1 was set to RED
Added comment: Identical twins reported with a de novo missense variant in this gene and hyper metabolism: normal thyroid function, hyperphagia, tachypnea, increased basal temperature, and increased sweating. Biochemical studies demonstrated increased mitochondrial oxygen consumption with inefficient production of ATP in the final steps of oxidative phosphorylation due to an uncoupling defect
Sources: Expert list
Mitochondrial disease v0.843 TOMM7 Bryony Thompson Publications for gene: TOMM7 were set to DOI:https://doi.org/10.1016/j.xhgg.2022.100148
Mitochondrial disease v0.842 TOMM7 Zornitza Stark changed review comment from: Second family reported in PMID 36282599: single affected individual with homozygous missense variant; clinical presentation with progeroid features but functional data supports underlying mitochondrial aetiology.; to: Second family reported in PMID 36282599: single affected individual with homozygous missense variant; clinical presentation with progeroid features but functional data supports underlying mitochondrial aetiology.

Maintain Amber rating as the two patients have quite disparate clinical presentations.
Mitochondrial disease v0.842 TOMM7 Zornitza Stark edited their review of gene: TOMM7: Changed rating: AMBER
Mitochondrial disease v0.842 TOMM7 Zornitza Stark edited their review of gene: TOMM7: Added comment: Second family reported in PMID 36282599: single affected individual with homozygous missense variant; clinical presentation with progeroid features but functional data supports underlying mitochondrial aetiology.; Changed rating: GREEN; Changed publications: 36299998, 36282599
Mitochondrial disease v0.842 LETM1 Zornitza Stark Phenotypes for gene: LETM1 were changed from Mitochondrial disease MONDO#0044970, LETM1-related to Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089
Mitochondrial disease v0.841 LETM1 Zornitza Stark reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.841 ETHE1 Zornitza Stark Tag treatable tag was added to gene: ETHE1.
Mitochondrial disease v0.841 TOMM7 Zornitza Stark Marked gene: TOMM7 as ready
Mitochondrial disease v0.841 TOMM7 Zornitza Stark Gene: tomm7 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.841 TOMM7 Zornitza Stark Classified gene: TOMM7 as Amber List (moderate evidence)
Mitochondrial disease v0.841 TOMM7 Zornitza Stark Gene: tomm7 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.840 TOMM7 Zornitza Stark gene: TOMM7 was added
gene: TOMM7 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: TOMM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOMM7 were set to DOI:https://doi.org/10.1016/j.xhgg.2022.100148
Phenotypes for gene: TOMM7 were set to Inborn mitochondrial disorder MONDO:0004069, TOMM7-related
Review for gene: TOMM7 was set to AMBER
Added comment: A single case identified with a homozygous variant in TOMM7 (c.73T>C, p.Trp25Arg) that presented with syndromic short stature, skeletal abnormalities, muscle hypotonia, microvesicular liver steatosis, and developmental delay. A mouse model of the missense variant demonstrated a bioenergetic defect and a phenotype of mitochondrial diseases. It also strongly suggested that the variant is hypomorphic because mice homozygous for this variant showed a milder phenotype than those with a homozygous Tomm7 deletion.
Sources: Literature
Mitochondrial disease v0.839 ACAD9 Zornitza Stark Tag treatable tag was added to gene: ACAD9.
Mitochondrial disease v0.839 LETM1 Zornitza Stark Marked gene: LETM1 as ready
Mitochondrial disease v0.839 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.839 LETM1 Zornitza Stark Classified gene: LETM1 as Green List (high evidence)
Mitochondrial disease v0.839 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.838 LETM1 Zornitza Stark Classified gene: LETM1 as Green List (high evidence)
Mitochondrial disease v0.838 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.837 LETM1 Zornitza Stark Classified gene: LETM1 as Green List (high evidence)
Mitochondrial disease v0.837 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.836 LETM1 Ee Ming Wong gene: LETM1 was added
gene: LETM1 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214
Phenotypes for gene: LETM1 were set to Mitochondrial disease MONDO#0044970, LETM1-related
Review for gene: LETM1 was set to GREEN
gene: LETM1 was marked as current diagnostic
Added comment: -18 affected individuals from 11 unrelated families harbouring ultra-rare bi-allelic missense and loss-of-function LETM1 variants
-Most of the affected individuals (14/18, 78%) had an infantile-onset disease manifestation,
and 4/18 (22%) presented first symptoms between the ages of 1.5 and 2 years
-Variant types included missense, frameshift, stop loss, in-frame deletion and splice defect
-From biochemical and morphological studies, bi-allelic LETM1 variants are associated with defective mitochondrial K efflux, swollen mitochondrial matrix structures, and loss of important mitochondrial oxidative phosphorylation protein components
Sources: Literature
Mitochondrial disease v0.836 COQ8A Zornitza Stark Tag treatable tag was added to gene: COQ8A.
Mitochondrial disease v0.836 COQ4 Zornitza Stark Tag treatable tag was added to gene: COQ4.
Mitochondrial disease v0.836 CA5A Zornitza Stark Tag treatable tag was added to gene: CA5A.
Mitochondrial disease v0.836 ACADVL Zornitza Stark Tag treatable tag was added to gene: ACADVL.
Mitochondrial disease v0.836 ETFB Zornitza Stark Tag treatable tag was added to gene: ETFB.
Mitochondrial disease v0.836 ETFA Zornitza Stark Tag treatable tag was added to gene: ETFA.
Mitochondrial disease v0.836 ETFDH Zornitza Stark Tag treatable tag was added to gene: ETFDH.
Mitochondrial disease v0.836 HADHB Zornitza Stark Tag treatable tag was added to gene: HADHB.
Mitochondrial disease v0.836 HADHA Zornitza Stark Tag treatable tag was added to gene: HADHA.
Mitochondrial disease v0.836 ACADM Zornitza Stark Tag acadm was removed from gene: ACADM.
Tag treatable tag was added to gene: ACADM.
Mitochondrial disease v0.836 ACADM Zornitza Stark Tag acadm tag was added to gene: ACADM.
Mitochondrial disease v0.836 HLCS Zornitza Stark Tag treatable tag was added to gene: HLCS.
Mitochondrial disease v0.836 SLC25A20 Zornitza Stark Tag treatable tag was added to gene: SLC25A20.
Mitochondrial disease v0.836 SLC22A5 Zornitza Stark Tag treatable tag was added to gene: SLC22A5.
Mitochondrial disease v0.836 CPT2 Zornitza Stark Tag treatable tag was added to gene: CPT2.
Mitochondrial disease v0.836 CPT1A Zornitza Stark Tag treatable tag was added to gene: CPT1A.
Mitochondrial disease v0.836 HMGCL Zornitza Stark Tag treatable tag was added to gene: HMGCL.
Mitochondrial disease v0.836 ACAT1 Zornitza Stark Tag treatable tag was added to gene: ACAT1.
Mitochondrial disease v0.836 COX11 Zornitza Stark Marked gene: COX11 as ready
Mitochondrial disease v0.836 COX11 Zornitza Stark Gene: cox11 has been classified as Green List (High Evidence).
Mitochondrial disease v0.836 COX11 Zornitza Stark Classified gene: COX11 as Green List (high evidence)
Mitochondrial disease v0.836 COX11 Zornitza Stark Gene: cox11 has been classified as Green List (High Evidence).
Mitochondrial disease v0.835 COX11 Zornitza Stark gene: COX11 was added
gene: COX11 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: COX11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX11 were set to 36030551
Phenotypes for gene: COX11 were set to Mitochondrial disease (MONDO:0044970), COX11-related
Review for gene: COX11 was set to GREEN
Added comment: PMID: 36030551
- Biallelic variants in COX11 associated with infantile-onset mitochondrial encephalopathies in two unrelated consanguineous families, one with homozygous missense variant, another with homozygous frameshift variant.
- Functional studies supported pathogenicity of the missense variant, and showed that mutant COX11 fibroblasts had decreased ATP levels which could be rescued by CoQ10.
- RNA studies suggested the mutant transcript with p.(Val12Glyfs*21) is not degraded by nonsense mediated decay.
Sources: Literature
Mitochondrial disease v0.834 ACADS Zornitza Stark Phenotypes for gene: ACADS were changed from Acyl-CoA dehydrogenase, short-chain, deficiency of MIM#201470 to Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470; MONDO:0008722
Mitochondrial disease v0.833 ACADS Zornitza Stark Classified gene: ACADS as Amber List (moderate evidence)
Mitochondrial disease v0.833 ACADS Zornitza Stark Gene: acads has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.832 ACADS Zornitza Stark reviewed gene: ACADS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470, MONDO:0008722; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.832 RMND1 Zornitza Stark Marked gene: RMND1 as ready
Mitochondrial disease v0.832 RMND1 Zornitza Stark Gene: rmnd1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.832 RMND1 Zornitza Stark Phenotypes for gene: RMND1 were changed from to Combined oxidative phosphorylation deficiency 11 MIM#614922
Mitochondrial disease v0.831 RMND1 Zornitza Stark Publications for gene: RMND1 were set to
Mitochondrial disease v0.830 RMND1 Zornitza Stark Mode of inheritance for gene: RMND1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.829 RMND1 Belinda Chong reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18835491, 23022099, 23022098, 25604853, 26395190; Phenotypes: Combined oxidative phosphorylation deficiency 11 MIM#614922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disease v0.829 RRM1 Seb Lunke Marked gene: RRM1 as ready
Mitochondrial disease v0.829 RRM1 Seb Lunke Gene: rrm1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.829 RRM1 Seb Lunke Classified gene: RRM1 as Amber List (moderate evidence)
Mitochondrial disease v0.829 RRM1 Seb Lunke Gene: rrm1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.828 RRM1 Seb Lunke Classified gene: RRM1 as Amber List (moderate evidence)
Mitochondrial disease v0.828 RRM1 Seb Lunke Gene: rrm1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.827 RRM1 Daniel Flanagan gene: RRM1 was added
gene: RRM1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: RRM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RRM1 were set to PMID: 35617047
Phenotypes for gene: RRM1 were set to Multiple mitochondrial DNA deletion syndrome (MONDO:0016797)
Review for gene: RRM1 was set to AMBER
Added comment: Homozygous missense were identified in 4 four probands (p.Arg381Cys or p.Arg381His) from three families, who presented with ptosis and ophthalmoplegia, plus other manifestations and multiple mtDNA deletions in muscle. Heterozygous carriers were unaffected. An additional proband was heterozygous for a different RRM1 missense (p.Asn427Lys), another variant not identified.
Sources: Expert list
Mitochondrial disease v0.827 GFM2 Zornitza Stark Marked gene: GFM2 as ready
Mitochondrial disease v0.827 GFM2 Zornitza Stark Gene: gfm2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.827 GFM2 Zornitza Stark Phenotypes for gene: GFM2 were changed from to Combined oxidative phosphorylation deficiency 39, OMIM #618397
Mitochondrial disease v0.826 GFM2 Zornitza Stark Publications for gene: GFM2 were set to 22700954; 26016410; 29075935
Mitochondrial disease v0.825 GFM2 Zornitza Stark Publications for gene: GFM2 were set to
Mitochondrial disease v0.824 GFM2 Zornitza Stark Mode of inheritance for gene: GFM2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.823 GFM2 Zornitza Stark Mode of inheritance for gene: GFM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.822 ATPAF2 Chirag Patel Classified gene: ATPAF2 as Red List (low evidence)
Mitochondrial disease v0.822 ATPAF2 Chirag Patel Gene: atpaf2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.823 ATPAF2 Chirag Patel Classified gene: ATPAF2 as Red List (low evidence)
Mitochondrial disease v0.823 ATPAF2 Chirag Patel Gene: atpaf2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.822 ATPAF2 Chirag Patel Classified gene: ATPAF2 as Red List (low evidence)
Mitochondrial disease v0.822 ATPAF2 Chirag Patel Gene: atpaf2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.822 ATPAF2 Chirag Patel Classified gene: ATPAF2 as Red List (low evidence)
Mitochondrial disease v0.822 ATPAF2 Chirag Patel Gene: atpaf2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.822 ATPAF2 Chirag Patel Classified gene: ATPAF2 as Red List (low evidence)
Mitochondrial disease v0.822 ATPAF2 Chirag Patel Gene: atpaf2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.822 ATPAF2 Chirag Patel Classified gene: ATPAF2 as Red List (low evidence)
Mitochondrial disease v0.822 ATPAF2 Chirag Patel Gene: atpaf2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.821 ATPAF2 Chirag Patel reviewed gene: ATPAF2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 14757859; Phenotypes: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, OMIM# 604273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.821 GFM2 Chirag Patel reviewed gene: GFM2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22700954, 26016410, 29075935; Phenotypes: Combined oxidative phosphorylation deficiency 39, OMIM #618397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.821 MPC1 Zornitza Stark Marked gene: MPC1 as ready
Mitochondrial disease v0.821 MPC1 Zornitza Stark Gene: mpc1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.821 MPC1 Zornitza Stark Phenotypes for gene: MPC1 were changed from Mitochondrial pyruvate carrier deficiency, MIM# 614741 to Mitochondrial pyruvate carrier deficiency, MIM# 614741
Mitochondrial disease v0.820 MPC1 Zornitza Stark Phenotypes for gene: MPC1 were changed from Mitochondrial pyruvate carrier deficiency, MIM# 614741 to Mitochondrial pyruvate carrier deficiency, MIM# 614741
Mitochondrial disease v0.819 MPC1 Zornitza Stark Phenotypes for gene: MPC1 were changed from to Mitochondrial pyruvate carrier deficiency, MIM# 614741
Mitochondrial disease v0.818 MPC1 Zornitza Stark Publications for gene: MPC1 were set to
Mitochondrial disease v0.817 MPC1 Zornitza Stark Mode of inheritance for gene: MPC1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.816 MPC1 Zornitza Stark Mode of inheritance for gene: MPC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.815 MPC1 Zornitza Stark reviewed gene: MPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22628558, 34873722; Phenotypes: Mitochondrial pyruvate carrier deficiency, MIM# 614741; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.815 MGME1 Zornitza Stark Marked gene: MGME1 as ready
Mitochondrial disease v0.815 MGME1 Zornitza Stark Gene: mgme1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.815 MGME1 Zornitza Stark Phenotypes for gene: MGME1 were changed from Mitochondrial DNA depletion syndrome 11, MIM# 615084 to Mitochondrial DNA depletion syndrome 11, MIM# 615084
Mitochondrial disease v0.814 MGME1 Zornitza Stark Phenotypes for gene: MGME1 were changed from Mitochondrial DNA depletion syndrome 11, MIM# 615084 to Mitochondrial DNA depletion syndrome 11, MIM# 615084
Mitochondrial disease v0.813 MGME1 Zornitza Stark Phenotypes for gene: MGME1 were changed from to Mitochondrial DNA depletion syndrome 11, MIM# 615084
Mitochondrial disease v0.812 MGME1 Zornitza Stark Publications for gene: MGME1 were set to 23313956; 29572490; 28711739
Mitochondrial disease v0.812 MGME1 Zornitza Stark Publications for gene: MGME1 were set to
Mitochondrial disease v0.811 MGME1 Zornitza Stark Mode of inheritance for gene: MGME1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.811 MGME1 Zornitza Stark Mode of inheritance for gene: MGME1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.810 MGME1 Zornitza Stark reviewed gene: MGME1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23313956, 29572490, 28711739; Phenotypes: Mitochondrial DNA depletion syndrome 11, MIM# 615084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.810 RNASEH1 Zornitza Stark Marked gene: RNASEH1 as ready
Mitochondrial disease v0.810 RNASEH1 Zornitza Stark Gene: rnaseh1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.810 RNASEH1 Zornitza Stark Phenotypes for gene: RNASEH1 were changed from to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MIM#616479
Mitochondrial disease v0.809 RNASEH1 Zornitza Stark Publications for gene: RNASEH1 were set to 26094573; 31258551
Mitochondrial disease v0.809 RNASEH1 Zornitza Stark Publications for gene: RNASEH1 were set to
Mitochondrial disease v0.808 RNASEH1 Zornitza Stark Mode of inheritance for gene: RNASEH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.807 MRPS2 Zornitza Stark Publications for gene: MRPS2 were set to 29576219
Mitochondrial disease v0.806 MRPS2 Zornitza Stark commented on gene: MRPS2: PMID 34991560: third family.
Mitochondrial disease v0.806 MRPS2 Zornitza Stark edited their review of gene: MRPS2: Changed publications: 29576219, 34991560
Mitochondrial disease v0.806 MTFMT Zornitza Stark Marked gene: MTFMT as ready
Mitochondrial disease v0.806 MTFMT Zornitza Stark Gene: mtfmt has been classified as Green List (High Evidence).
Mitochondrial disease v0.806 MTFMT Zornitza Stark Phenotypes for gene: MTFMT were changed from to Combined oxidative phosphorylation deficiency 15, MIM# 614947; Mitochondrial complex I deficiency, nuclear type 27, MIM# 618248
Mitochondrial disease v0.805 MTFMT Zornitza Stark Publications for gene: MTFMT were set to
Mitochondrial disease v0.804 MTFMT Zornitza Stark Mode of inheritance for gene: MTFMT was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.803 MTFMT Zornitza Stark Mode of inheritance for gene: MTFMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.802 MTFMT Zornitza Stark reviewed gene: MTFMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 21907147, 23499752, 24461907, 22499348; Phenotypes: Combined oxidative phosphorylation deficiency 15, MIM# 614947, Mitochondrial complex I deficiency, nuclear type 27, MIM# 618248; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.802 MTO1 Zornitza Stark Marked gene: MTO1 as ready
Mitochondrial disease v0.802 MTO1 Zornitza Stark Gene: mto1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.802 MTO1 Zornitza Stark Phenotypes for gene: MTO1 were changed from to Combined oxidative phosphorylation deficiency 10, OMIM #614702
Mitochondrial disease v0.801 MTO1 Zornitza Stark Publications for gene: MTO1 were set to
Mitochondrial disease v0.800 MTO1 Zornitza Stark Mode of inheritance for gene: MTO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.799 MTO1 Zornitza Stark reviewed gene: MTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26061759, 29331171, 23929671; Phenotypes: Combined oxidative phosphorylation deficiency 10, OMIM #614702; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.799 RNASEH1 Belinda Chong reviewed gene: RNASEH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26094573, 31258551; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MIM#616479; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.799 FDX2 Zornitza Stark Marked gene: FDX2 as ready
Mitochondrial disease v0.799 FDX2 Zornitza Stark Gene: fdx2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.799 FDX2 Zornitza Stark Phenotypes for gene: FDX2 were changed from to Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, MIM# 251900; inborn mitochondrial myopathy MONDO:0009637
Mitochondrial disease v0.798 FDX2 Zornitza Stark Publications for gene: FDX2 were set to
Mitochondrial disease v0.797 FDX2 Zornitza Stark Mode of inheritance for gene: FDX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.796 FDX2 Zornitza Stark commented on gene: FDX2: 6 apparently unrelated families with 3 different homozygous variants (c.1A>T; p.Pro144Leu; p.Met4Ile) with a rhabdomyolysis/mitochondrial myopathy phenotype. Molecular investigation of patient cells demonstrates mitochondrial dysfunction. Only 2 families with p.Pro144Leu have been reported with the additional features of optic atrophy and reversible leukoencephalopathy. The phenotype reported in OMIM is mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, but there is limited evidence that optic atrophy and leukoencephalopathy are prominent features of the phenotype.
Mitochondrial disease v0.796 FDX2 Zornitza Stark reviewed gene: FDX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24281368, 28803783, 30010796, 35079622, 34905296; Phenotypes: Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, MIM# 251900, inborn mitochondrial myopathy MONDO:0009637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.796 FASTKD2 Zornitza Stark Marked gene: FASTKD2 as ready
Mitochondrial disease v0.796 FASTKD2 Zornitza Stark Gene: fastkd2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.796 FASTKD2 Zornitza Stark Phenotypes for gene: FASTKD2 were changed from Combined oxidative phosphorylation deficiency 44, MIM# 618855; FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632 to Combined oxidative phosphorylation deficiency 44, MIM# 618855; FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632
Mitochondrial disease v0.795 FASTKD2 Zornitza Stark Phenotypes for gene: FASTKD2 were changed from to Combined oxidative phosphorylation deficiency 44, MIM# 618855; FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632
Mitochondrial disease v0.794 FASTKD2 Zornitza Stark Publications for gene: FASTKD2 were set to
Mitochondrial disease v0.793 FASTKD2 Zornitza Stark Mode of inheritance for gene: FASTKD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.792 FASTKD2 Zornitza Stark reviewed gene: FASTKD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18771761, 28499982, 31944455, 34234304; Phenotypes: Combined oxidative phosphorylation deficiency 44, MIM# 618855, FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.792 FARS2 Zornitza Stark Marked gene: FARS2 as ready
Mitochondrial disease v0.792 FARS2 Zornitza Stark Gene: fars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.792 FARS2 Zornitza Stark Phenotypes for gene: FARS2 were changed from to combined oxidative phosphorylation defect type 14 MONDO:0013986; hereditary spastic paraplegia 77 MONDO:0014882
Mitochondrial disease v0.791 FARS2 Zornitza Stark Publications for gene: FARS2 were set to
Mitochondrial disease v0.790 FARS2 Zornitza Stark Mode of inheritance for gene: FARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.789 FARS2 Zornitza Stark reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30250868, 30177229, 29126765, 28043061; Phenotypes: combined oxidative phosphorylation defect type 14 MONDO:0013986, hereditary spastic paraplegia 77 MONDO:0014882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.789 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813
Mitochondrial disease v0.788 CLPB Zornitza Stark edited their review of gene: CLPB: Changed phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271, 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835, Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813
Mitochondrial disease v0.788 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813
Mitochondrial disease v0.787 CLPB Zornitza Stark edited their review of gene: CLPB: Changed phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271, Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813
Mitochondrial disease v0.787 TRMT5 Zornitza Stark Marked gene: TRMT5 as ready
Mitochondrial disease v0.787 TRMT5 Zornitza Stark Gene: trmt5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.787 TRMT5 Zornitza Stark Phenotypes for gene: TRMT5 were changed from to Combined oxidative phosphorylation deficiency 26, MIM# 616539
Mitochondrial disease v0.786 TRMT5 Zornitza Stark Publications for gene: TRMT5 were set to
Mitochondrial disease v0.785 TRMT5 Zornitza Stark Mode of inheritance for gene: TRMT5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.784 TRMT5 Zornitza Stark Mode of inheritance for gene: TRMT5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.783 TRMT5 Zornitza Stark reviewed gene: TRMT5: Rating: GREEN; Mode of pathogenicity: None; Publications: 26189817, 35342985, 35109800, 29021354; Phenotypes: Combined oxidative phosphorylation deficiency 26, MIM# 616539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.783 TRMT10C Zornitza Stark Mode of inheritance for gene: TRMT10C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.782 TRMT10C Zornitza Stark reviewed gene: TRMT10C: Rating: GREEN; Mode of pathogenicity: None; Publications: 27132592, 33886802; Phenotypes: Combined oxidative phosphorylation deficiency 30, MIM# 616974; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.782 TMEM126B Zornitza Stark Marked gene: TMEM126B as ready
Mitochondrial disease v0.782 TMEM126B Zornitza Stark Gene: tmem126b has been classified as Green List (High Evidence).
Mitochondrial disease v0.782 TMEM126B Zornitza Stark Phenotypes for gene: TMEM126B were changed from to Mitochondrial complex I deficiency, nuclear type 29, MIM# 618250
Mitochondrial disease v0.781 TMEM126B Zornitza Stark Publications for gene: TMEM126B were set to
Mitochondrial disease v0.780 TMEM126B Zornitza Stark Mode of inheritance for gene: TMEM126B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.779 TMEM126B Zornitza Stark reviewed gene: TMEM126B: Rating: GREEN; Mode of pathogenicity: None; Publications: 27374774, 27374773; Phenotypes: Mitochondrial complex I deficiency, nuclear type 29, MIM# 618250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.779 LIG3 Zornitza Stark Phenotypes for gene: LIG3 were changed from gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy to Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780
Mitochondrial disease v0.778 LIG3 Zornitza Stark reviewed gene: LIG3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.778 SLC25A26 Zornitza Stark Marked gene: SLC25A26 as ready
Mitochondrial disease v0.778 SLC25A26 Zornitza Stark Gene: slc25a26 has been classified as Green List (High Evidence).
Mitochondrial disease v0.778 SLC25A26 Zornitza Stark Phenotypes for gene: SLC25A26 were changed from Combined oxidative phosphorylation deficiency 28, MIM# 616794 to Combined oxidative phosphorylation deficiency 28, MIM# 616794
Mitochondrial disease v0.777 SLC25A26 Zornitza Stark Phenotypes for gene: SLC25A26 were changed from to Combined oxidative phosphorylation deficiency 28, MIM# 616794
Mitochondrial disease v0.776 SLC25A26 Zornitza Stark Publications for gene: SLC25A26 were set to
Mitochondrial disease v0.775 SLC25A26 Zornitza Stark Mode of inheritance for gene: SLC25A26 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.774 SLC25A26 Zornitza Stark reviewed gene: SLC25A26: Rating: GREEN; Mode of pathogenicity: None; Publications: 26522469; Phenotypes: Combined oxidative phosphorylation deficiency 28, MIM# 616794; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.774 SLC25A3 Zornitza Stark Marked gene: SLC25A3 as ready
Mitochondrial disease v0.774 SLC25A3 Zornitza Stark Gene: slc25a3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.774 SLC25A3 Zornitza Stark Phenotypes for gene: SLC25A3 were changed from to Mitochondrial phosphate carrier deficiency, MIM# 610773
Mitochondrial disease v0.773 SLC25A3 Zornitza Stark Publications for gene: SLC25A3 were set to
Mitochondrial disease v0.772 SLC25A3 Zornitza Stark Mode of inheritance for gene: SLC25A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.772 SLC25A3 Zornitza Stark Mode of inheritance for gene: SLC25A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.771 SLC25A3 Zornitza Stark reviewed gene: SLC25A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273968, 21763135, 25681081; Phenotypes: Mitochondrial phosphate carrier deficiency, MIM# 610773; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.771 SLC25A4 Zornitza Stark Marked gene: SLC25A4 as ready
Mitochondrial disease v0.771 SLC25A4 Zornitza Stark Gene: slc25a4 has been classified as Green List (High Evidence).
Mitochondrial disease v0.771 SLC25A4 Zornitza Stark Phenotypes for gene: SLC25A4 were changed from to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283
Mitochondrial disease v0.770 SLC25A4 Zornitza Stark Publications for gene: SLC25A4 were set to 30046662; 30013777; 29654543; 28823815
Mitochondrial disease v0.769 SLC25A4 Zornitza Stark Publications for gene: SLC25A4 were set to
Mitochondrial disease v0.768 SLC25A4 Zornitza Stark Mode of inheritance for gene: SLC25A4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.767 SLC25A4 Zornitza Stark reviewed gene: SLC25A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 30046662, 30013777, 29654543, 28823815; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.767 SLC25A42 Zornitza Stark Marked gene: SLC25A42 as ready
Mitochondrial disease v0.767 SLC25A42 Zornitza Stark Gene: slc25a42 has been classified as Green List (High Evidence).
Mitochondrial disease v0.767 SLC25A42 Zornitza Stark Phenotypes for gene: SLC25A42 were changed from to Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression , MIM#618416
Mitochondrial disease v0.766 SLC25A42 Zornitza Stark Publications for gene: SLC25A42 were set to
Mitochondrial disease v0.765 SLC25A42 Zornitza Stark Mode of inheritance for gene: SLC25A42 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.764 SLC25A42 Zornitza Stark Mode of inheritance for gene: SLC25A42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.763 SLC25A42 Zornitza Stark Tag founder tag was added to gene: SLC25A42.
Mitochondrial disease v0.763 SLC25A42 Zornitza Stark reviewed gene: SLC25A42: Rating: GREEN; Mode of pathogenicity: None; Publications: 26541337, 29327420, 29923093, 34258143; Phenotypes: Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression , MIM#618416; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.763 TAMM41 Bryony Thompson Marked gene: TAMM41 as ready
Mitochondrial disease v0.763 TAMM41 Bryony Thompson Gene: tamm41 has been classified as Green List (High Evidence).
Mitochondrial disease v0.763 TAMM41 Bryony Thompson Classified gene: TAMM41 as Green List (high evidence)
Mitochondrial disease v0.763 TAMM41 Bryony Thompson Gene: tamm41 has been classified as Green List (High Evidence).
Mitochondrial disease v0.762 TAMM41 Bryony Thompson gene: TAMM41 was added
gene: TAMM41 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: TAMM41 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAMM41 were set to 35321494; 29253589
Phenotypes for gene: TAMM41 were set to inborn mitochondrial metabolism disorder MONDO:0004069; hypotonia; developmental delay; myopathy; ptosis
Review for gene: TAMM41 was set to GREEN
Added comment: Three unrelated individuals with mitochondrial disease that share clinical features, including lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis with biallelic variants. Tissue-specific observations on OXPHOS were identified, cardiolipin levels were unchanged in subject fibroblasts but significantly decreased in the skeletal muscle of affected individuals. The missense variants identified were defective in yeast models. In an in vitro cell model knockdown of TAMM41 resulted in decreased mitochondrial CDP diacylglycerol synthase activity, decreased cardiolipin levels and a decrease in oxygen consumption.
Sources: Literature
Mitochondrial disease v0.761 TK2 Zornitza Stark Marked gene: TK2 as ready
Mitochondrial disease v0.761 TK2 Zornitza Stark Gene: tk2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.761 TK2 Zornitza Stark Phenotypes for gene: TK2 were changed from to Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM# 609560; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, MIM# 617069
Mitochondrial disease v0.760 TK2 Zornitza Stark Publications for gene: TK2 were set to
Mitochondrial disease v0.759 TK2 Zornitza Stark Mode of inheritance for gene: TK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.758 TK2 Zornitza Stark reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11687801, 12391347, 12873860, 35286480, 35280287, 35094997; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM# 609560, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, MIM# 617069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.758 TIMM50 Zornitza Stark Marked gene: TIMM50 as ready
Mitochondrial disease v0.758 TIMM50 Zornitza Stark Gene: timm50 has been classified as Green List (High Evidence).
Mitochondrial disease v0.758 TIMM50 Zornitza Stark Phenotypes for gene: TIMM50 were changed from to 3-methylglutaconic aciduria, type IX, MIM# 617698
Mitochondrial disease v0.757 TIMM50 Zornitza Stark Publications for gene: TIMM50 were set to
Mitochondrial disease v0.756 TIMM50 Zornitza Stark Mode of inheritance for gene: TIMM50 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.755 TIMM50 Zornitza Stark reviewed gene: TIMM50: Rating: GREEN; Mode of pathogenicity: None; Publications: 27573165, 32369862, 30190335, 31058414; Phenotypes: 3-methylglutaconic aciduria, type IX, MIM# 617698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.755 NUBPL Zornitza Stark Marked gene: NUBPL as ready
Mitochondrial disease v0.755 NUBPL Zornitza Stark Gene: nubpl has been classified as Green List (High Evidence).
Mitochondrial disease v0.755 NUBPL Zornitza Stark Publications for gene: NUBPL were set to 20818383; 32518176; 23553477; 31917109; 32518176; 31787496; 30897263; 22826544
Mitochondrial disease v0.754 NUBPL Zornitza Stark Phenotypes for gene: NUBPL were changed from to Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242
Mitochondrial disease v0.753 NUBPL Zornitza Stark Publications for gene: NUBPL were set to
Mitochondrial disease v0.752 NUBPL Zornitza Stark Mode of inheritance for gene: NUBPL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.751 TUFM Zornitza Stark Marked gene: TUFM as ready
Mitochondrial disease v0.751 TUFM Zornitza Stark Gene: tufm has been classified as Green List (High Evidence).
Mitochondrial disease v0.751 TUFM Zornitza Stark Phenotypes for gene: TUFM were changed from to Combined oxidative phosphorylation deficiency 4, OMIM #610678; MONDO:0012534
Mitochondrial disease v0.750 TUFM Zornitza Stark Publications for gene: TUFM were set to
Mitochondrial disease v0.749 TUFM Zornitza Stark Mode of inheritance for gene: TUFM was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.748 TUFM Zornitza Stark Mode of inheritance for gene: TUFM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.747 TUFM Zornitza Stark reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132884, 26741492, 17160893, 30903008; Phenotypes: Combined oxidative phosphorylation deficiency 4, OMIM #610678, MONDO:0012534; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.747 NUBPL Krithika Murali reviewed gene: NUBPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 20818383, 32518176, 23553477, 31917109, 32518176, 31787496, 30897263, 22826544; Phenotypes: Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.747 NDUFV2 Zornitza Stark Publications for gene: NDUFV2 were set to 12754703; 19167255; 26008862
Mitochondrial disease v0.746 NDUFV2 Krithika Murali reviewed gene: NDUFV2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30770271, 33811136, 34405929; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.746 NDUFS6 Zornitza Stark Marked gene: NDUFS6 as ready
Mitochondrial disease v0.746 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.746 NDUFS6 Zornitza Stark Phenotypes for gene: NDUFS6 were changed from to Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232
Mitochondrial disease v0.745 NDUFS6 Zornitza Stark Publications for gene: NDUFS6 were set to
Mitochondrial disease v0.744 NDUFS6 Zornitza Stark Mode of inheritance for gene: NDUFS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.743 NDUFS3 Zornitza Stark Marked gene: NDUFS3 as ready
Mitochondrial disease v0.743 NDUFS3 Zornitza Stark Gene: ndufs3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.743 NDUFS3 Zornitza Stark Phenotypes for gene: NDUFS3 were changed from to Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230
Mitochondrial disease v0.742 NDUFS3 Zornitza Stark Publications for gene: NDUFS3 were set to
Mitochondrial disease v0.741 NDUFS3 Zornitza Stark Mode of inheritance for gene: NDUFS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.740 NDUFS6 Krithika Murali reviewed gene: NDUFS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15372108, 19259137, 30948790; Phenotypes: Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.740 NDUFS2 Zornitza Stark Marked gene: NDUFS2 as ready
Mitochondrial disease v0.740 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.740 NDUFS2 Zornitza Stark Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228
Mitochondrial disease v0.739 NDUFS2 Zornitza Stark Publications for gene: NDUFS2 were set to
Mitochondrial disease v0.738 NDUFS2 Zornitza Stark Mode of inheritance for gene: NDUFS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.737 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226 to Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226
Mitochondrial disease v0.736 NDUFS1 Zornitza Stark Marked gene: NDUFS1 as ready
Mitochondrial disease v0.736 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.736 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226 to Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226
Mitochondrial disease v0.736 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from to Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226
Mitochondrial disease v0.736 NDUFS1 Zornitza Stark Publications for gene: NDUFS1 were set to 33751534; 24952175; 20382551; 21203893; 20797884; 15824269; 25615419; 11349233; 22399432
Mitochondrial disease v0.735 NDUFS1 Zornitza Stark Publications for gene: NDUFS1 were set to
Mitochondrial disease v0.734 NDUFS1 Zornitza Stark Mode of inheritance for gene: NDUFS1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.734 NDUFS1 Zornitza Stark Mode of inheritance for gene: NDUFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.733 NDUFS3 Krithika Murali reviewed gene: NDUFS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22499348, 30140060, 14729820, 33097395; Phenotypes: Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.733 NDUFS2 Krithika Murali reviewed gene: NDUFS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28031252, 31411514, 22036843, 20819849, 11220739, 23266820, 31411514; Phenotypes: Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.733 NDUFS1 Krithika Murali reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33751534, 24952175, 20382551, 21203893, 20797884, 15824269, 25615419, 11349233, 22399432; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.733 NDUFB8 Zornitza Stark Marked gene: NDUFB8 as ready
Mitochondrial disease v0.733 NDUFB8 Zornitza Stark Gene: ndufb8 has been classified as Green List (High Evidence).
Mitochondrial disease v0.733 NDUFB8 Zornitza Stark Phenotypes for gene: NDUFB8 were changed from to Mitochondrial complex I deficiency, nuclear type 32 - MIM#618252
Mitochondrial disease v0.732 NDUFB8 Zornitza Stark Publications for gene: NDUFB8 were set to
Mitochondrial disease v0.731 NDUFB8 Zornitza Stark Mode of inheritance for gene: NDUFB8 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.731 NDUFB8 Zornitza Stark Mode of inheritance for gene: NDUFB8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.730 NDUFAF4 Zornitza Stark Marked gene: NDUFAF4 as ready
Mitochondrial disease v0.730 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Green List (High Evidence).
Mitochondrial disease v0.730 NDUFAF4 Zornitza Stark Phenotypes for gene: NDUFAF4 were changed from to Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237
Mitochondrial disease v0.729 NDUFAF4 Zornitza Stark Publications for gene: NDUFAF4 were set to
Mitochondrial disease v0.728 NDUFAF4 Zornitza Stark Mode of inheritance for gene: NDUFAF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.727 NDUFAF3 Zornitza Stark Marked gene: NDUFAF3 as ready
Mitochondrial disease v0.727 NDUFAF3 Zornitza Stark Gene: ndufaf3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.727 NDUFAF3 Zornitza Stark Phenotypes for gene: NDUFAF3 were changed from to Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240
Mitochondrial disease v0.726 NDUFAF3 Zornitza Stark Publications for gene: NDUFAF3 were set to
Mitochondrial disease v0.725 NDUFAF3 Zornitza Stark Mode of inheritance for gene: NDUFAF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.724 NDUFA2 Zornitza Stark Marked gene: NDUFA2 as ready
Mitochondrial disease v0.724 NDUFA2 Zornitza Stark Gene: ndufa2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.724 NDUFA2 Zornitza Stark Phenotypes for gene: NDUFA2 were changed from to Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235
Mitochondrial disease v0.723 NDUFA2 Zornitza Stark Publications for gene: NDUFA2 were set to
Mitochondrial disease v0.722 NDUFA2 Zornitza Stark Mode of inheritance for gene: NDUFA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.721 NDUFB8 Krithika Murali reviewed gene: NDUFB8: Rating: GREEN; Mode of pathogenicity: None; Publications: 29429571; Phenotypes: Mitochondrial complex I deficiency, nuclear type 32 - MIM#618252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.721 NDUFAF4 Krithika Murali changed review comment from: 2 unrelated families reported with patient-specific functional evidence provided for each.

PMID: 32949790 - report two siblings with facial dysmorphism and lactic acidosis diagnosed neonatally with subsequent fatal early encephalopathy with apneic episodes, irritability, central hypoventilation, liver involvement and hyperammonemia. Cerebral white matter anomalies reported in one patient and cardiomyopathy in the other. WES identified homozygous nonsense NDUFAF4 variants with absent NDUFAF4 expression in patient fibroblasts. OXPHOS assembly studies demonstrated almost undetectable levels of fully assembled complex I and complex I–containing supercomplexes and an abnormal accumulation of SCIII2IV1 supercomplexes. Morphologically, fibroblasts showed rounder mitochondria and a diminished degree of branching of the mitochondrial network.

PMID: 28853723 - report one patient born at 38 weeks after IOL for IUGR. Presented age 7 months with developmental regression, growth failure and central hypotonia. Brain MRI revealed diffuse bilateral signal alterations in the basal ganglia and thalami and an EEG showed generalized slowing with multifocal spikes consistent with an epileptogenic focus. Homozygous missense NDUFAF4 variants identified. Lentiviral complementation of patient fibroblasts with wild-type NDUFAF4 rescued complex I deficiency and assembly defect; to: 3 unrelated families reported with patient-specific functional evidence provided for each.

PMID: 32949790 - report two siblings with facial dysmorphism and lactic acidosis diagnosed neonatally with subsequent fatal early encephalopathy with apneic episodes, irritability, central hypoventilation, liver involvement and hyperammonemia. Cerebral white matter anomalies reported in one patient and cardiomyopathy in the other. WES identified homozygous nonsense NDUFAF4 variants with absent NDUFAF4 expression in patient fibroblasts. OXPHOS assembly studies demonstrated almost undetectable levels of fully assembled complex I and complex I–containing supercomplexes and an abnormal accumulation of SCIII2IV1 supercomplexes. Morphologically, fibroblasts showed rounder mitochondria and a diminished degree of branching of the mitochondrial network.

PMID: 28853723 - report one patient born at 38 weeks after IOL for IUGR. Presented age 7 months with developmental regression, growth failure and central hypotonia. Brain MRI revealed diffuse bilateral signal alterations in the basal ganglia and thalami and an EEG showed generalized slowing with multifocal spikes consistent with an epileptogenic focus. Homozygous missense NDUFAF4 variants identified. Lentiviral complementation of patient fibroblasts with wild-type NDUFAF4 rescued complex I deficiency and assembly defect.

PMID 18179882 - report multiple affected individuals from one family. Most presented soon after birth with severe metabolic acidosis and high plasma lactate levels. Patients who survived longer were repeatedly admitted because of exacerbation of the acidosis during intercurrent infections. One long-term survivor had profound ID. Seizures occurred in 2 individuals during decompensation episodes. Brain MRI of one patient at 16 months of age revealed severe atrophy of both gray and white matter, with demyelination, most prominent at the anterior aspects of the brain, leaving a cortical ribbon. At the occipito-parietal region there were subventricular cysts, emphasizing the ventricular walls. The cerebellum, basal ganglia, pons, and medulla were severely atrophic
Mitochondrial disease v0.721 NDUFAF4 Krithika Murali reviewed gene: NDUFAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 32949790, 28853723; Phenotypes: Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.721 NDUFAF3 Krithika Murali reviewed gene: NDUFAF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27986404, 29344937, 19463981; Phenotypes: Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.721 NDUFA2 Krithika Murali reviewed gene: NDUFA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28857146, 32154054, 18513682; Phenotypes: Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.721 NDUFAF2 Zornitza Stark Marked gene: NDUFAF2 as ready
Mitochondrial disease v0.721 NDUFAF2 Zornitza Stark Gene: ndufaf2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.721 NDUFAF2 Zornitza Stark Phenotypes for gene: NDUFAF2 were changed from to Mitochondrial complex I deficiency, nuclear type 10 - MIM#618233
Mitochondrial disease v0.720 NDUFAF2 Zornitza Stark Publications for gene: NDUFAF2 were set to
Mitochondrial disease v0.719 NDUFAF2 Zornitza Stark Mode of inheritance for gene: NDUFAF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.718 NDUFAF2 Zornitza Stark reviewed gene: NDUFAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33528536, 34364746, 16200211, 19384974, 20571988; Phenotypes: Mitochondrial complex I deficiency, nuclear type 10 - MIM#618233; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.718 NDUFAF1 Zornitza Stark Phenotypes for gene: NDUFAF1 were changed from Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234 to Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234
Mitochondrial disease v0.718 NDUFAF1 Zornitza Stark Marked gene: NDUFAF1 as ready
Mitochondrial disease v0.718 NDUFAF1 Zornitza Stark Gene: ndufaf1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.718 NDUFAF1 Zornitza Stark Phenotypes for gene: NDUFAF1 were changed from to Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234
Mitochondrial disease v0.717 NDUFAF1 Zornitza Stark Publications for gene: NDUFAF1 were set to
Mitochondrial disease v0.716 NDUFAF1 Zornitza Stark Mode of inheritance for gene: NDUFAF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.715 NDUFAF1 Zornitza Stark reviewed gene: NDUFAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17557076, 21931170, 16218961, 24963768, 34975718; Phenotypes: Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.715 NDUFAF2 Krithika Murali reviewed gene: NDUFAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.715 NDUFAF1 Krithika Murali reviewed gene: NDUFAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.715 NDUFA10 Zornitza Stark Marked gene: NDUFA10 as ready
Mitochondrial disease v0.715 NDUFA10 Zornitza Stark Gene: ndufa10 has been classified as Green List (High Evidence).
Mitochondrial disease v0.715 NDUFA10 Zornitza Stark Phenotypes for gene: NDUFA10 were changed from Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243 to Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243
Mitochondrial disease v0.714 NDUFA10 Zornitza Stark Phenotypes for gene: NDUFA10 were changed from to Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243
Mitochondrial disease v0.713 NDUFA10 Zornitza Stark Publications for gene: NDUFA10 were set to
Mitochondrial disease v0.712 NDUFA10 Zornitza Stark Mode of inheritance for gene: NDUFA10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.711 NDUFA10 Zornitza Stark reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 21150889, 26741492, 28247337; Phenotypes: Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.711 NDUFA10 Krithika Murali reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 26741492, 21150889; Phenotypes: Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.711 ECHS1 Bryony Thompson Marked gene: ECHS1 as ready
Mitochondrial disease v0.711 ECHS1 Bryony Thompson Gene: echs1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.711 ECHS1 Bryony Thompson Phenotypes for gene: ECHS1 were changed from to Leigh syndrome MONDO:0009723
Mitochondrial disease v0.710 ECHS1 Bryony Thompson Publications for gene: ECHS1 were set to
Mitochondrial disease v0.709 ECHS1 Bryony Thompson Mode of inheritance for gene: ECHS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.708 ECHS1 Bryony Thompson reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26000322, 25393721, 25125611, 28409271, 29575569, 28755360, 26099313; Phenotypes: Leigh syndrome MONDO:0009723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disease v0.708 NARS2 Zornitza Stark Marked gene: NARS2 as ready
Mitochondrial disease v0.708 NARS2 Zornitza Stark Gene: nars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.708 NARS2 Zornitza Stark Phenotypes for gene: NARS2 were changed from to Combined oxidative phosphorylation deficiency 24 - MIM#616239; Deafness, autosomal recessive 94 - MIM#618434
Mitochondrial disease v0.707 NARS2 Zornitza Stark Publications for gene: NARS2 were set to
Mitochondrial disease v0.706 NARS2 Zornitza Stark Mode of inheritance for gene: NARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.705 NARS2 Krithika Murali reviewed gene: NARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25385316, 25807530, 30327238, 28077841; Phenotypes: Combined oxidative phosphorylation deficiency 24 - MIM#616239, ?Deafness, autosomal recessive 94 - MIM#618434; Mode of inheritance: None
Mitochondrial disease v0.705 EARS2 Bryony Thompson Marked gene: EARS2 as ready
Mitochondrial disease v0.705 EARS2 Bryony Thompson Gene: ears2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.705 EARS2 Bryony Thompson Phenotypes for gene: EARS2 were changed from to Leigh syndrome MONDO:0009723; Combined oxidative phosphorylation deficiency 12 MIM#614924; leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971
Mitochondrial disease v0.704 EARS2 Bryony Thompson Publications for gene: EARS2 were set to
Mitochondrial disease v0.703 EARS2 Bryony Thompson Mode of inheritance for gene: EARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.702 EARS2 Bryony Thompson reviewed gene: EARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22492562, 23008233, 25854774, 26619324, 26893310, 27206875, 27571996, 27117034; Phenotypes: Leigh syndrome MONDO:0009723, Combined oxidative phosphorylation deficiency 12 MIM#614924, leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disease v0.702 CRLS1 Zornitza Stark Marked gene: CRLS1 as ready
Mitochondrial disease v0.702 CRLS1 Zornitza Stark Gene: crls1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.702 CRLS1 Zornitza Stark Classified gene: CRLS1 as Green List (high evidence)
Mitochondrial disease v0.702 CRLS1 Zornitza Stark Gene: crls1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.701 CRLS1 Michelle Torres gene: CRLS1 was added
gene: CRLS1 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: CRLS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRLS1 were set to 35147173
Phenotypes for gene: CRLS1 were set to Mitochondrial disease MONDO:0044970 CRLS1-related
Added comment: - Three families (4 individuals) with cardiolipin deficiency.
- Two families (one consanguineous with 2 affected siblings) with homozygous the p.(Ile109Asn) had infantile progressive encephalopathy, bull’s eye maculopathy, auditory neuropathy, diabetes insipidus, autonomic instability, cardiac defects and early death.
- The fourth individual cHet p.(Ala172Asp) and p.(Leu217Phe) presented with chronic encephalopathy with neurodevelopmental regression, congenital nystagmus with decreased vision, sensorineural hearing loss, failure to thrive and acquired microcephaly.
- Functional studies on patient cells showed increased levels of the substrate of CRLS1 and impaired mitochondrial morphology and biogenesis
Sources: Literature
Mitochondrial disease v0.701 TFAM Zornitza Stark Publications for gene: TFAM were set to 27448789; 29021295; 9500544; 32399598; 34647195; 34647195
Mitochondrial disease v0.700 TFAM Zornitza Stark Publications for gene: TFAM were set to 27448789; 29021295; 9500544
Mitochondrial disease v0.699 TFAM Zornitza Stark Classified gene: TFAM as Green List (high evidence)
Mitochondrial disease v0.699 TFAM Zornitza Stark Gene: tfam has been classified as Green List (High Evidence).
Mitochondrial disease v0.699 TFAM Zornitza Stark Classified gene: TFAM as Green List (high evidence)
Mitochondrial disease v0.699 TFAM Zornitza Stark Gene: tfam has been classified as Green List (High Evidence).
Mitochondrial disease v0.698 TFAM Zornitza Stark reviewed gene: TFAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 32399598, 34647195, 34647195; Phenotypes: Perrault syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.698 NDUFA11 Zornitza Stark Marked gene: NDUFA11 as ready
Mitochondrial disease v0.698 NDUFA11 Zornitza Stark Gene: ndufa11 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.698 NDUFA11 Zornitza Stark Phenotypes for gene: NDUFA11 were changed from to Mitochondrial complex I deficiency, nuclear type 14, MIM#618236
Mitochondrial disease v0.697 NDUFA11 Zornitza Stark Publications for gene: NDUFA11 were set to
Mitochondrial disease v0.696 NDUFA11 Zornitza Stark Mode of inheritance for gene: NDUFA11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.695 NDUFA11 Zornitza Stark Classified gene: NDUFA11 as Amber List (moderate evidence)
Mitochondrial disease v0.695 NDUFA11 Zornitza Stark Gene: ndufa11 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.694 NDUFA11 Zornitza Stark reviewed gene: NDUFA11: Rating: AMBER; Mode of pathogenicity: None; Publications: 18306244, 31074871; Phenotypes: Mitochondrial complex I deficiency, nuclear type 14, MIM#618236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.694 KIAA0391 Zornitza Stark Tag new gene name tag was added to gene: KIAA0391.
Mitochondrial disease v0.694 KIAA0391 Zornitza Stark Phenotypes for gene: KIAA0391 were changed from Hearing loss, intellectual disability; Mitochondrial disorder to Combined oxidative phosphorylation deficiency 54, MIM# 619737
Mitochondrial disease v0.693 KIAA0391 Zornitza Stark edited their review of gene: KIAA0391: Changed phenotypes: Combined oxidative phosphorylation deficiency 54, MIM# 619737
Mitochondrial disease v0.693 POLRMT Zornitza Stark Phenotypes for gene: POLRMT were changed from Mitochondrial disorder; intellectual disability; hypotonia to Combined oxidative phosphorylation deficiency 55, MIM# 619743; intellectual disability; hypotonia
Mitochondrial disease v0.692 POLRMT Zornitza Stark edited their review of gene: POLRMT: Changed phenotypes: Combined oxidative phosphorylation deficiency 55, MIM# 619743, intellectual disability, hypotonia
Mitochondrial disease v0.692 PYROXD2 Zornitza Stark Classified gene: PYROXD2 as Amber List (moderate evidence)
Mitochondrial disease v0.692 PYROXD2 Zornitza Stark Gene: pyroxd2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.691 PYROXD2 Zornitza Stark Classified gene: PYROXD2 as Amber List (moderate evidence)
Mitochondrial disease v0.691 PYROXD2 Zornitza Stark Gene: pyroxd2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.690 PYROXD2 Zornitza Stark Classified gene: PYROXD2 as Amber List (moderate evidence)
Mitochondrial disease v0.690 PYROXD2 Zornitza Stark Gene: pyroxd2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.689 PYROXD2 Zornitza Stark Marked gene: PYROXD2 as ready
Mitochondrial disease v0.689 PYROXD2 Zornitza Stark Gene: pyroxd2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.689 PYROXD2 Zornitza Stark gene: PYROXD2 was added
gene: PYROXD2 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: PYROXD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYROXD2 were set to 35055180
Phenotypes for gene: PYROXD2 were set to Mitochondrial disease, MONDO:0044970
Review for gene: PYROXD2 was set to AMBER
Added comment: Single individual reported, functional data.
Sources: Literature
Mitochondrial disease v0.688 ATP5E Ain Roesley reviewed gene: ATP5E: Rating: GREEN; Mode of pathogenicity: None; Publications: 34954817; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disease v0.688 UQCRC2 Zornitza Stark Publications for gene: UQCRC2 were set to 28275242; 23281071
Mitochondrial disease v0.687 UQCRC2 Zornitza Stark Mode of inheritance for gene: UQCRC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.686 UQCRC2 Zornitza Stark Classified gene: UQCRC2 as Green List (high evidence)
Mitochondrial disease v0.686 UQCRC2 Zornitza Stark Gene: uqcrc2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.685 UQCRC2 John Christodoulou reviewed gene: UQCRC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33865955; Phenotypes: motor delay, developmental delay, symmetric necrotic lesions in the brain stem suggesting Leigh-like syndrome, strabismus, cerebellar signs, lactic academia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.685 ATP5A1 Naomi Baker edited their review of gene: ATP5A1: Added comment: PMID: 34954817 reports three individuals with de novo monoallelic missense variants. One of these is the recurrent p.(Arg207His) variant while the other two variants are different substitutions. The three patients presented with a variable phenotypes: (1) a 14-year-old girl who presented during the first few months of life with developmental delay, failure-to-thrive, and lactic acidosis. She recovered and had no persistent neurologic phenotype; (2) a 17-year-old boy with psychomotor delay, intellectual disability, ataxia, spastic paraparesis, and dystonia; (3) a 12-year-old girl with psychomotor retardation, spastic tetraparesis, generalized dystonia, absent speech, swallowing problems, and increased blood lactate concentrations. Enzymatic investigations of muscle tissue from patient 1 showed a decrease in ATPase activity.; Changed publications: PMID: 34954817
Mitochondrial disease v0.685 OGDH Zornitza Stark Phenotypes for gene: OGDH were changed from Developmental delay; ataxia; seizure; raised lactate to Oxoglutarate dehydrogenase deficiency, MIM# 203740; Developmental delay; ataxia; seizure; raised lactate
Mitochondrial disease v0.684 OGDH Zornitza Stark edited their review of gene: OGDH: Changed phenotypes: Oxoglutarate dehydrogenase deficiency, MIM# 203740, Developmental delay, ataxia, seizure, raised lactate
Mitochondrial disease v0.684 FOXRED1 Zornitza Stark Marked gene: FOXRED1 as ready
Mitochondrial disease v0.684 FOXRED1 Zornitza Stark Gene: foxred1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.684 FOXRED1 Zornitza Stark Phenotypes for gene: FOXRED1 were changed from to Mitochondrial complex I deficiency, nuclear type 19 MIM#618241
Mitochondrial disease v0.683 FOXRED1 Zornitza Stark Publications for gene: FOXRED1 were set to
Mitochondrial disease v0.682 FOXRED1 Zornitza Stark Mode of inheritance for gene: FOXRED1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.681 FOXRED1 Zornitza Stark reviewed gene: FOXRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33613441; Phenotypes: Mitochondrial complex I deficiency, nuclear type 19 MIM#618241; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.681 COX15 Zornitza Stark Marked gene: COX15 as ready
Mitochondrial disease v0.681 COX15 Zornitza Stark Gene: cox15 has been classified as Green List (High Evidence).
Mitochondrial disease v0.681 COX15 Zornitza Stark Phenotypes for gene: COX15 were changed from to Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119
Mitochondrial disease v0.680 COX15 Zornitza Stark Publications for gene: COX15 were set to
Mitochondrial disease v0.679 COX15 Zornitza Stark Mode of inheritance for gene: COX15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.678 COX15 Zornitza Stark reviewed gene: COX15: Rating: GREEN; Mode of pathogenicity: None; Publications: 33746038, 32232962, 26959537, 21412973, 12474143, 15235026; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.678 ATP5A1 Zornitza Stark Phenotypes for gene: ATP5A1 were changed from Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228; Mitochondrial disorder, autosomal dominant to Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228; Mitochondrial disorder, autosomal dominant
Mitochondrial disease v0.677 ATP5A1 Zornitza Stark Phenotypes for gene: ATP5A1 were changed from Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228 to Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228; Mitochondrial disorder, autosomal dominant
Mitochondrial disease v0.676 ATP5A1 Zornitza Stark Publications for gene: ATP5A1 were set to 23599390
Mitochondrial disease v0.675 ATP5A1 Zornitza Stark Mode of inheritance for gene: ATP5A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.674 ATP5A1 Naomi Baker reviewed gene: ATP5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 34483339; Phenotypes: feeding intolerance, failure to thrive, hyperammonemia, lactic acidemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disease v0.674 SLIRP Zornitza Stark Marked gene: SLIRP as ready
Mitochondrial disease v0.674 SLIRP Zornitza Stark Gene: slirp has been classified as Red List (Low Evidence).
Mitochondrial disease v0.674 SLIRP Zornitza Stark Classified gene: SLIRP as Red List (low evidence)
Mitochondrial disease v0.674 SLIRP Zornitza Stark Gene: slirp has been classified as Red List (Low Evidence).
Mitochondrial disease v0.673 SLIRP Belinda Chong gene: SLIRP was added
gene: SLIRP was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: SLIRP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLIRP were set to 34426662
Phenotypes for gene: SLIRP were set to Mitochondrial encephalomyopathy with complex I and IV deficiency
Added comment: Single Dutch non-consanguineous patient having mitochondrial encephalomyopathy with complex I and complex IV deficiency, whole exome sequencing revealed two compound heterozygous variants (NM_031210.5:c.248_252del; NP_112487.1:p.(Ile83Argfs*10) and NC_000014.8:g.78177003 A > G; NM_031210.5:c.98-178 A > G) in SLIRP. Report SLIRP variants as a novel cause of mitochondrial encephalomyopathy with OXPHOS deficiency
Sources: Literature
Sources: Literature
Mitochondrial disease v0.673 OGDH Zornitza Stark Marked gene: OGDH as ready
Mitochondrial disease v0.673 OGDH Zornitza Stark Gene: ogdh has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.673 OGDH Zornitza Stark Classified gene: OGDH as Amber List (moderate evidence)
Mitochondrial disease v0.673 OGDH Zornitza Stark Gene: ogdh has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.672 OGDH Zornitza Stark gene: OGDH was added
gene: OGDH was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: OGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OGDH were set to 32383294
Phenotypes for gene: OGDH were set to Developmental delay; ataxia; seizure; raised lactate
Review for gene: OGDH was set to AMBER
Added comment: Two siblings reported with homozygous missense variant in this gene and global developmental delay, elevated lactate, ataxia and seizure. Fibroblast analysis and modeling of the mutation in Drosophila were used to evaluate pathogenicity of the variant. Note previous report of an individual with developmental delay, hypotonia, and movement disorders and metabolic decompensation and biochemical evidence of OGDH deficiency but genetic testing not done.
Sources: Literature
Mitochondrial disease v0.671 MTPAP Zornitza Stark Phenotypes for gene: MTPAP were changed from Spastic ataxia 4, autosomal recessive 613672 to Spastic ataxia 4, autosomal recessive 613672; Lethal encephalopathy
Mitochondrial disease v0.670 MTPAP Zornitza Stark Tag founder tag was added to gene: MTPAP.
Mitochondrial disease v0.670 MTPAP Zornitza Stark changed review comment from: At least two families reported, functional data.; to: Three families reported, functional data. However, note that the 6 individuals with spastic ataxia all had same founder variant and were traced as distantly related (Amish community). Two additional families reported with a much more severe phenotype of lethal encephalopathy.

These are likely to represent a continuum of severity associated with a mitochondrial disorder.
Mitochondrial disease v0.670 GTPBP3 Zornitza Stark Marked gene: GTPBP3 as ready
Mitochondrial disease v0.670 GTPBP3 Zornitza Stark Gene: gtpbp3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.670 GTPBP3 Zornitza Stark Phenotypes for gene: GTPBP3 were changed from to Combined oxidative phosphorylation deficiency 23, MIM#616198
Mitochondrial disease v0.669 GTPBP3 Zornitza Stark Publications for gene: GTPBP3 were set to
Mitochondrial disease v0.668 GTPBP3 Zornitza Stark Mode of inheritance for gene: GTPBP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.668 GTPBP3 Zornitza Stark Mode of inheritance for gene: GTPBP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.667 GTPBP3 Zornitza Stark reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34276756, 25434004; Phenotypes: Combined oxidative phosphorylation deficiency 23 MIM#616198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.667 ACO2 Zornitza Stark Marked gene: ACO2 as ready
Mitochondrial disease v0.667 ACO2 Zornitza Stark Gene: aco2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.667 ACO2 Zornitza Stark Phenotypes for gene: ACO2 were changed from to Infantile cerebellar-retinal degeneration, MIM#614559; Optic atrophy 9, MIM# 616289
Mitochondrial disease v0.666 ACO2 Zornitza Stark Publications for gene: ACO2 were set to
Mitochondrial disease v0.665 ACO2 Zornitza Stark Mode of inheritance for gene: ACO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.664 ACO2 Zornitza Stark reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22405087, 25351951, 30689204, 32519519, 25351951; Phenotypes: Infantile cerebellar-retinal degeneration, MIM#614559, Optic atrophy 9, MIM# 616289; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.664 ELAC2 Zornitza Stark Marked gene: ELAC2 as ready
Mitochondrial disease v0.664 ELAC2 Zornitza Stark Gene: elac2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.664 ELAC2 Zornitza Stark Phenotypes for gene: ELAC2 were changed from to Combined oxidative phosphorylation deficiency 17, MIM#615440
Mitochondrial disease v0.663 ELAC2 Zornitza Stark Publications for gene: ELAC2 were set to
Mitochondrial disease v0.662 ELAC2 Zornitza Stark Mode of inheritance for gene: ELAC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.661 ELAC2 Zornitza Stark reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23849775, 31045291; Phenotypes: Combined oxidative phosphorylation deficiency 17, MIM#615440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.661 COQ4 Zornitza Stark Marked gene: COQ4 as ready
Mitochondrial disease v0.661 COQ4 Zornitza Stark Gene: coq4 has been classified as Green List (High Evidence).
Mitochondrial disease v0.661 COQ4 Zornitza Stark Phenotypes for gene: COQ4 were changed from to Coenzyme Q10 deficiency, primary, 7, MIM# 616276
Mitochondrial disease v0.660 COQ4 Zornitza Stark Publications for gene: COQ4 were set to 25658047; 26185144; 33704555
Mitochondrial disease v0.659 COQ4 Zornitza Stark Publications for gene: COQ4 were set to
Mitochondrial disease v0.658 COQ4 Zornitza Stark Mode of inheritance for gene: COQ4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.657 COQ4 Zornitza Stark reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25658047, 26185144, 33704555; Phenotypes: Coenzyme Q10 deficiency, primary, 7, MIM# 616276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.657 KIAA0391 Zornitza Stark reviewed gene: KIAA0391: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.657 KIAA0391 Zornitza Stark Marked gene: KIAA0391 as ready
Mitochondrial disease v0.657 KIAA0391 Zornitza Stark Gene: kiaa0391 has been classified as Green List (High Evidence).
Mitochondrial disease v0.657 KIAA0391 Zornitza Stark Phenotypes for gene: KIAA0391 were changed from Hearing loss, intellectual disability to Hearing loss, intellectual disability; Mitochondrial disorder
Mitochondrial disease v0.656 KIAA0391 Zornitza Stark Classified gene: KIAA0391 as Green List (high evidence)
Mitochondrial disease v0.656 KIAA0391 Zornitza Stark Gene: kiaa0391 has been classified as Green List (High Evidence).
Mitochondrial disease v0.655 KIAA0391 Lucy Spencer reviewed gene: KIAA0391: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34715011; Phenotypes: Hearing loss, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.655 KIAA0391 Lucy Spencer gene: KIAA0391 was added
gene: KIAA0391 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: KIAA0391 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0391 were set to PMID: 34715011
Phenotypes for gene: KIAA0391 were set to Hearing loss, intellectual disability
Mitochondrial disease v0.655 P4HTM Zornitza Stark Marked gene: P4HTM as ready
Mitochondrial disease v0.655 P4HTM Zornitza Stark Gene: p4htm has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.655 P4HTM Zornitza Stark Classified gene: P4HTM as Amber List (moderate evidence)
Mitochondrial disease v0.655 P4HTM Zornitza Stark Gene: p4htm has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.654 P4HTM Zornitza Stark gene: P4HTM was added
gene: P4HTM was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: P4HTM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: P4HTM were set to 25078763; 30940925; 34285383
Phenotypes for gene: P4HTM were set to Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities; OMIM #618493
Review for gene: P4HTM was set to AMBER
Added comment: Mitochondrial dysfunction reported in at least 4 individuals who had muscle biopsies.

P4HTM encodes a transmembrane prolyl 4-hydroxylase with putative targets including hypoxia inducible factors, RNA polymerase II and activating transcription factor 4, which has been implicated in the integrated stress response observed in cell and animal models of mitochondrial disease. Authors postulate this may explain the mitochondrial dysfunction observed in HIDEA syndrome.
Sources: Literature
Mitochondrial disease v0.653 TARS2 Zornitza Stark Publications for gene: TARS2 were set to 24827421; 26811336; 33153448
Mitochondrial disease v0.652 TARS2 Zornitza Stark Classified gene: TARS2 as Green List (high evidence)
Mitochondrial disease v0.652 TARS2 Zornitza Stark Gene: tars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.651 TARS2 Krithika Murali reviewed gene: TARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33153448, 24827421, 34508595; Phenotypes: Combined oxidative phosphorylation deficiency 21 - 615918, Epilepsy, Developmental Delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.651 VARS2 Zornitza Stark Marked gene: VARS2 as ready
Mitochondrial disease v0.651 VARS2 Zornitza Stark Gene: vars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.651 VARS2 Zornitza Stark Phenotypes for gene: VARS2 were changed from to Combined oxidative phosphorylation deficiency 20; OMIM #615917
Mitochondrial disease v0.650 VARS2 Zornitza Stark Publications for gene: VARS2 were set to
Mitochondrial disease v0.649 VARS2 Zornitza Stark Mode of inheritance for gene: VARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.648 VARS2 Zornitza Stark reviewed gene: VARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24827421, 25058219, 29137650, 29314548, 31064326, 31623496; Phenotypes: Combined oxidative phosphorylation deficiency 20, OMIM #615917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.648 YARS2 Zornitza Stark Marked gene: YARS2 as ready
Mitochondrial disease v0.648 YARS2 Zornitza Stark Gene: yars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.648 YARS2 Zornitza Stark Phenotypes for gene: YARS2 were changed from to Myopathy, lactic acidosis, and sideroblastic anaemia 2 MIM# 613561; sideroblastic anaemia; muscle atrophy; myopathy; lactic acidosis; Hypertrophic cardiomyopathy; Hepatomegaly; Decreased cytochrome C oxidase activity
Mitochondrial disease v0.647 YARS2 Zornitza Stark Publications for gene: YARS2 were set to
Mitochondrial disease v0.646 YARS2 Zornitza Stark Mode of inheritance for gene: YARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.645 YARS2 Zornitza Stark reviewed gene: YARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24430573, 24344687; Phenotypes: Myopathy, lactic acidosis, and sideroblastic anaemia 2 MIM# 613561, sideroblastic anaemia, muscle atrophy, myopathy, lactic acidosis, Hypertrophic cardiomyopathy, Hepatomegaly, Decreased cytochrome C oxidase activity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.645 PRDX3 Zornitza Stark Marked gene: PRDX3 as ready
Mitochondrial disease v0.645 PRDX3 Zornitza Stark Gene: prdx3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.645 PRDX3 Zornitza Stark Classified gene: PRDX3 as Green List (high evidence)
Mitochondrial disease v0.645 PRDX3 Zornitza Stark Gene: prdx3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.644 PRDX3 Zornitza Stark gene: PRDX3 was added
gene: PRDX3 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: PRDX3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDX3 were set to 33889951
Phenotypes for gene: PRDX3 were set to Cerebellar ataxia (early onset, mild to moderate, progressive)
Review for gene: PRDX3 was set to GREEN
Added comment: Biallelic variants in 5 unrelated families with early onset (median 21 years , range 13-22 years) with ataxia with variable additional hyper- and hypokinetic movement disorders, and severe early-onset cerebellar atrophy (seen on MRI), and involvement of the brainstem, medullary olive and parietal cortex.

Evolution of the disease was gait ataxia leading to upper limb ataxia, then dysarthria and then dysphagia, all within a decade. For some of these patients, the phenotype included myoclonus, dystonia and / or tremor. Mild classical mitochondrial features were seen in one of the patients, namely ptosis and COX-negative fibres.

The variants were homozygous nonsense, homozygous frameshift, homozygous missense, and a compound heterozygote with a splice variant and missense, all leading to complete loss of the protein. Oxidative stress and mitochondrial dysfunction was indicated as the disease mechanism.

The families originated from Germany, France, India and two from eastern Turkey. The two families from Turkey were seemingly unrelated to each other but had the same homozygous missense.

Patient fibroblasts from each of the five probands showed lack of protein (via Western blot) and decreased glutathione peroxidase activity and decreased mitochondrial maximal respiratory capacity.

PRDX3 encodes peroxiredoxin 3, a mitochondrial antioxidant protein, that catalyses the reduction of hydrogen peroxide. It localises in the mitochondria, where most hydrogen peroxide is generated.

Functional studies: PRDX3 knockdown (induced by silencing RNA against PRDX3) in cerebellar medulloblastoma cells showed significantly decreased cell viability, increased hydrogen peroxide levels and increased susceptibility to apoptosis triggered by reactive oxygen species.

In addition, induced knockdown drosophila (in vivo animal model) had aberrant locomotor phenotypes and reduced lifespans, while immunolabelling of the brain showed increased cell death after exposure to oxidative stress.
Sources: Literature
Mitochondrial disease v0.643 POLG2 Zornitza Stark Marked gene: POLG2 as ready
Mitochondrial disease v0.643 POLG2 Zornitza Stark Gene: polg2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.643 POLG2 Zornitza Stark Phenotypes for gene: POLG2 were changed from to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131; Mitochondrial DNA depletion syndrome 16 , MIM# 618528
Mitochondrial disease v0.642 POLG2 Zornitza Stark Publications for gene: POLG2 were set to
Mitochondrial disease v0.641 POLG2 Zornitza Stark Mode of inheritance for gene: POLG2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.640 POLG2 Zornitza Stark reviewed gene: POLG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16685652, 21555342, 27592148, 31778857; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131, Mitochondrial DNA depletion syndrome 16 , MIM# 618528; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.640 C2orf69 Zornitza Stark Marked gene: C2orf69 as ready
Mitochondrial disease v0.640 C2orf69 Zornitza Stark Gene: c2orf69 has been classified as Green List (High Evidence).
Mitochondrial disease v0.640 C2orf69 Zornitza Stark edited their review of gene: C2orf69: Changed publications: 34038740, 33945503
Mitochondrial disease v0.640 C2orf69 Zornitza Stark Publications for gene: C2orf69 were set to 34038740
Mitochondrial disease v0.639 C2orf69 Zornitza Stark Classified gene: C2orf69 as Green List (high evidence)
Mitochondrial disease v0.639 C2orf69 Zornitza Stark Gene: c2orf69 has been classified as Green List (High Evidence).
Mitochondrial disease v0.638 C2orf69 Zornitza Stark gene: C2orf69 was added
gene: C2orf69 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C2orf69 were set to 34038740
Phenotypes for gene: C2orf69 were set to Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423
Review for gene: C2orf69 was set to GREEN
Added comment: PMID 34038740: 20 affected children from 8 unrelated families reported, presenting with fatal syndrome consisting of severe autoinflammation and progredient leukoencephalopathy with recurrent seizures; 12 of these subjects, whose DNA was available, segregated homozygous loss-of-function C2orf69 variants. Endogenous C2ORF69 was found to be (1) loosely bound to mitochondria, (2) affects mitochondrial membrane potential and oxidative respiration in cultured neurons, and (3) controls the levels of the glycogen branching enzyme 1 (GBE1) consistent with a glycogen-storage-associated mitochondriopathy. Zebrafish model.

PMID 33945503: 8 individuals from 5 families reported with muscle hypotonia, developmental delay, progressive microcephaly, and brain MRI abnormalities. Age at onset ranged from birth to 6 months of age. Six patients had vision impairment, liver abnormalities, inflammation/inflammatory arthritis, and 5 patients had seizures.
Sources: Literature
Mitochondrial disease v0.637 PITRM1 Zornitza Stark Phenotypes for gene: PITRM1 were changed from Cerebellar atrophy; mental retardation; spinocerebellar ataxia; cognitive decline; psychosis to Spinocerebellar ataxia-30 (SCAR30), MIM#619405; intellectual disability; cognitive decline; psychosis
Mitochondrial disease v0.636 PITRM1 Zornitza Stark reviewed gene: PITRM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia-30 (SCAR30), MIM#619405, intellectual disability, cognitive decline, psychosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.636 CLPB Zornitza Stark Marked gene: CLPB as ready
Mitochondrial disease v0.636 CLPB Zornitza Stark Gene: clpb has been classified as Green List (High Evidence).
Mitochondrial disease v0.636 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271
Mitochondrial disease v0.635 CLPB Zornitza Stark Publications for gene: CLPB were set to
Mitochondrial disease v0.634 CLPB Zornitza Stark Mode of inheritance for gene: CLPB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.633 CLPB Zornitza Stark reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 25597510, 34140661; Phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.633 NFS1 Zornitza Stark Publications for gene: NFS1 were set to 24498631
Mitochondrial disease v0.632 NFS1 Zornitza Stark Phenotypes for gene: NFS1 were changed from Complex II/III deficiency; multisystem organ failure to Combined oxidative phosphorylation deficiency 52, MIM#619386; Complex II/III deficiency; multisystem organ failure
Mitochondrial disease v0.631 NFS1 Zornitza Stark edited their review of gene: NFS1: Changed phenotypes: Combined oxidative phosphorylation deficiency 52, MIM#619386, Complex II/III deficiency, multisystem organ failure
Mitochondrial disease v0.631 DNAJC30 Zornitza Stark Phenotypes for gene: DNAJC30 were changed from Leber Hereditary Optic Neuropathy to Leber Hereditary Optic Neuropathy, MIM#619382
Mitochondrial disease v0.630 DNAJC30 Zornitza Stark reviewed gene: DNAJC30: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leber Hereditary Optic Neuropathy, MIM#619382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.630 COX16 Zornitza Stark Phenotypes for gene: COX16 were changed from Hypertrophic cardiomyopathy; encephalopathy; severe fatal lactic acidosis to Mitochondrial complex IV deficiency, nuclear type 22, MIM# 619355; Hypertrophic cardiomyopathy; encephalopathy; severe fatal lactic acidosis
Mitochondrial disease v0.629 COX16 Zornitza Stark reviewed gene: COX16: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 22, MIM# 619355; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.629 NFU1 Zornitza Stark Marked gene: NFU1 as ready
Mitochondrial disease v0.629 NFU1 Zornitza Stark Gene: nfu1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.629 NFU1 Zornitza Stark Phenotypes for gene: NFU1 were changed from to Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711
Mitochondrial disease v0.628 NFU1 Zornitza Stark Publications for gene: NFU1 were set to
Mitochondrial disease v0.627 NFU1 Zornitza Stark Mode of inheritance for gene: NFU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.626 NFU1 Zornitza Stark reviewed gene: NFU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21944046, 22077971, 32747156, 29441221; Phenotypes: Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.626 NDUFB3 Zornitza Stark Marked gene: NDUFB3 as ready
Mitochondrial disease v0.626 NDUFB3 Zornitza Stark Gene: ndufb3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.626 NDUFB3 Zornitza Stark Phenotypes for gene: NDUFB3 were changed from to Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246; MONDO:0032629
Mitochondrial disease v0.625 NDUFB3 Zornitza Stark Publications for gene: NDUFB3 were set to
Mitochondrial disease v0.624 NDUFB3 Zornitza Stark Mode of inheritance for gene: NDUFB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.623 NDUFB3 Zornitza Stark reviewed gene: NDUFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22499348, 27091925; Phenotypes: Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246, MONDO:0032629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.623 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505 to Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505; Pontocerebellar hypoplasia, type 1E, MIM# 619303
Mitochondrial disease v0.622 SLC25A46 Zornitza Stark changed review comment from: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus.

At least 10 unrelated families reported, supportive functional data.

Mitochondrial carrier protein.; to: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus. New PCH disease entity added by OMIM in 2021 to reflect the more severe end of the spectrum.

At least 10 unrelated families reported, supportive functional data.

Mitochondrial carrier protein.
Mitochondrial disease v0.622 SLC25A46 Zornitza Stark edited their review of gene: SLC25A46: Changed phenotypes: Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505, Pontocerebellar hypoplasia, type 1E, MIM# 619303
Mitochondrial disease v0.622 MT-RNR1 Zornitza Stark Publications for gene: MT-RNR1 were set to
Mitochondrial disease v0.621 MT-RNR1 Chern Lim reviewed gene: MT-RNR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301595; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL; Current diagnostic: yes
Mitochondrial disease v0.621 COX6A1 Zornitza Stark Marked gene: COX6A1 as ready
Mitochondrial disease v0.621 COX6A1 Zornitza Stark Gene: cox6a1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.621 COX6A1 Zornitza Stark Phenotypes for gene: COX6A1 were changed from to Charcot Marie Tooth disease, recessive intermediate D, MIM# 616039; MONDO:0014467
Mitochondrial disease v0.620 COX6A1 Zornitza Stark Publications for gene: COX6A1 were set to
Mitochondrial disease v0.619 COX6A1 Zornitza Stark Mode of inheritance for gene: COX6A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.618 COX6A1 Zornitza Stark reviewed gene: COX6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25152455, 26302975, 25152455; Phenotypes: Charcot Marie Tooth disease, recessive intermediate D, MIM# 616039, MONDO:0014467; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.618 COQ2 Zornitza Stark Marked gene: COQ2 as ready
Mitochondrial disease v0.618 COQ2 Zornitza Stark Gene: coq2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.618 COQ2 Zornitza Stark Phenotypes for gene: COQ2 were changed from to Coenzyme Q10 deficiency, primary, 1, MIM# 607426; MONDO:0011829
Mitochondrial disease v0.617 COQ2 Zornitza Stark Publications for gene: COQ2 were set to
Mitochondrial disease v0.616 COQ2 Zornitza Stark Mode of inheritance for gene: COQ2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.615 COQ2 Zornitza Stark reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16400613, 17332895, 17855635; Phenotypes: Coenzyme Q10 deficiency, primary, 1, MIM# 607426, MONDO:0011829; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.615 COA6 Zornitza Stark Marked gene: COA6 as ready
Mitochondrial disease v0.615 COA6 Zornitza Stark Gene: coa6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.615 COA6 Zornitza Stark Phenotypes for gene: COA6 were changed from to Mitochondrial complex IV deficiency, nuclear type 13, MIM# 616501; Cardioencephalomyopathy, fatal infantile, MONDO:0014668
Mitochondrial disease v0.614 COA6 Zornitza Stark Publications for gene: COA6 were set to
Mitochondrial disease v0.613 COA6 Zornitza Stark Mode of inheritance for gene: COA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.612 COA6 Zornitza Stark edited their review of gene: COA6: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 13, MIM# 616501, Cardioencephalomyopathy, fatal infantile, MONDO:0014668
Mitochondrial disease v0.612 COA6 Zornitza Stark reviewed gene: COA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 24549041, 25339201, 31851937, 26160915; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 13, MIM# 616501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.612 CARS2 Zornitza Stark Phenotypes for gene: CARS2 were changed from Combined oxidative phosphorylation deficiency 27, MIM# 616672 to Combined oxidative phosphorylation deficiency 27, MIM# 616672; MONDO:0014728
Mitochondrial disease v0.611 CARS2 Zornitza Stark Marked gene: CARS2 as ready
Mitochondrial disease v0.611 CARS2 Zornitza Stark Gene: cars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.611 CARS2 Zornitza Stark Phenotypes for gene: CARS2 were changed from to Combined oxidative phosphorylation deficiency 27, MIM# 616672
Mitochondrial disease v0.610 CARS2 Zornitza Stark Publications for gene: CARS2 were set to
Mitochondrial disease v0.609 CARS2 Zornitza Stark Mode of inheritance for gene: CARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.608 CARS2 Zornitza Stark reviewed gene: CARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25361775, 25787132, 30139652; Phenotypes: Combined oxidative phosphorylation deficiency 27, MIM# 616672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.608 ACAT1 Zornitza Stark Marked gene: ACAT1 as ready
Mitochondrial disease v0.608 ACAT1 Zornitza Stark Gene: acat1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.608 ACADSB Zornitza Stark Marked gene: ACADSB as ready
Mitochondrial disease v0.608 ACADSB Zornitza Stark Gene: acadsb has been classified as Green List (High Evidence).
Mitochondrial disease v0.608 MECR Zornitza Stark Marked gene: MECR as ready
Mitochondrial disease v0.608 MECR Zornitza Stark Gene: mecr has been classified as Green List (High Evidence).
Mitochondrial disease v0.608 MECR Zornitza Stark Phenotypes for gene: MECR were changed from to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282; MONDO:0015003
Mitochondrial disease v0.607 MECR Zornitza Stark Publications for gene: MECR were set to
Mitochondrial disease v0.606 MECR Zornitza Stark Mode of inheritance for gene: MECR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.605 MECR Zornitza Stark reviewed gene: MECR: Rating: GREEN; Mode of pathogenicity: None; Publications: 27817865, 33401012, 31137067, 31070877; Phenotypes: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282, MONDO:0015003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.605 MORC2 Zornitza Stark Marked gene: MORC2 as ready
Mitochondrial disease v0.605 MORC2 Zornitza Stark Added comment: Comment when marking as ready: Phenotypic overlap.
Mitochondrial disease v0.605 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.605 MORC2 Zornitza Stark Classified gene: MORC2 as Green List (high evidence)
Mitochondrial disease v0.605 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.604 MORC2 Naomi Baker gene: MORC2 was added
gene: MORC2 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MORC2 were set to PMID: 32693025
Phenotypes for gene: MORC2 were set to Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090; Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688.
Review for gene: MORC2 was set to GREEN
Added comment: Five of eighteen individuals for whom brain imaging was available had lesions reminiscent of those observed in Leigh syndrome.
Sources: Literature
Mitochondrial disease v0.604 LIG3 Zornitza Stark Marked gene: LIG3 as ready
Mitochondrial disease v0.604 LIG3 Zornitza Stark Gene: lig3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.604 LIG3 Zornitza Stark Classified gene: LIG3 as Green List (high evidence)
Mitochondrial disease v0.604 LIG3 Zornitza Stark Gene: lig3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.603 LIG3 John Christodoulou gene: LIG3 was added
gene: LIG3 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: LIG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIG3 were set to PMID: 33855352
Phenotypes for gene: LIG3 were set to gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy
Penetrance for gene: LIG3 were set to Complete
Review for gene: LIG3 was set to GREEN
Added comment: Three families, each with multiple affected individuals with different biallelic LoF variants.

Solid functional data presented - cell based and zebrafish model
Sources: Literature
Mitochondrial disease v0.603 NDUFB11 Zornitza Stark Phenotypes for gene: NDUFB11 were changed from Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952); Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021) to Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952); MONDO:0010494; Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021); MONDO:0026721
Mitochondrial disease v0.602 NDUFB11 Zornitza Stark Marked gene: NDUFB11 as ready
Mitochondrial disease v0.602 NDUFB11 Zornitza Stark Gene: ndufb11 has been classified as Green List (High Evidence).
Mitochondrial disease v0.602 NDUFB11 Zornitza Stark Phenotypes for gene: NDUFB11 were changed from to Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952); Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021)
Mitochondrial disease v0.601 NDUFB11 Zornitza Stark Publications for gene: NDUFB11 were set to
Mitochondrial disease v0.600 NDUFB11 Zornitza Stark Mode of inheritance for gene: NDUFB11 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mitochondrial disease v0.599 NDUFB11 Zornitza Stark reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 28050600, 27488349, 30423443, 27488349; Phenotypes: Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952), Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mitochondrial disease v0.599 NDUFA8 Zornitza Stark Phenotypes for gene: NDUFA8 were changed from NDUFA8-related mitochondrial disease; Developmental delay; microcehaly; seizures to Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272; Developmental delay; microcehaly; seizures
Mitochondrial disease v0.598 NDUFA8 Zornitza Stark Publications for gene: NDUFA8 were set to 32385911
Mitochondrial disease v0.597 NDUFA8 Zornitza Stark Classified gene: NDUFA8 as Amber List (moderate evidence)
Mitochondrial disease v0.597 NDUFA8 Zornitza Stark Gene: ndufa8 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.596 NDUFA8 Zornitza Stark edited their review of gene: NDUFA8: Added comment: Second family reported with pair of affected siblings and homozygous missense variant, some functional data.; Changed rating: AMBER; Changed publications: 32385911, 33153867; Changed phenotypes: Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272, Developmental delay, microcehaly, seizures, lactic acidosis
Mitochondrial disease v0.596 NDUFA12 Bryony Thompson Publications for gene: NDUFA12 were set to 21617257
Mitochondrial disease v0.595 NDUFA12 Bryony Thompson Classified gene: NDUFA12 as Green List (high evidence)
Mitochondrial disease v0.595 NDUFA12 Bryony Thompson Gene: ndufa12 has been classified as Green List (High Evidence).
Mitochondrial disease v0.594 NDUFA12 Bryony Thompson reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: None; Publications: 21617257, 33715266; Phenotypes: Mitochondrial complex I deficiency, nuclear type 23 MIM#618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.594 NDUFB7 Bryony Thompson Marked gene: NDUFB7 as ready
Mitochondrial disease v0.594 NDUFB7 Bryony Thompson Gene: ndufb7 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.594 NDUFB7 Bryony Thompson Classified gene: NDUFB7 as Amber List (moderate evidence)
Mitochondrial disease v0.594 NDUFB7 Bryony Thompson Gene: ndufb7 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.593 NDUFB7 Bryony Thompson gene: NDUFB7 was added
gene: NDUFB7 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: NDUFB7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB7 were set to 33502047; 27626371
Phenotypes for gene: NDUFB7 were set to Congenital lactic acidosis; hypertrophic cardiomyopathy
Review for gene: NDUFB7 was set to AMBER
Added comment: Single patient with a homozygous variant impacting RNA splicing (c.113-10C>G) with intrauterine growth restriction and anaemia, which displayed postpartum hypertrophic cardiomyopathy, lactic acidosis, encephalopathy, and a severe complex I defect with fatal outcome. Also, a supporting knockout cell line model demonstrating impaired complex I assembly.
Sources: Literature
Mitochondrial disease v0.592 ABCB7 Zornitza Stark Marked gene: ABCB7 as ready
Mitochondrial disease v0.592 ABCB7 Zornitza Stark Gene: abcb7 has been classified as Green List (High Evidence).
Mitochondrial disease v0.592 ABCB7 Zornitza Stark Phenotypes for gene: ABCB7 were changed from to Anaemia, sideroblastic, with ataxia, MIM# 301310
Mitochondrial disease v0.591 ABCB7 Zornitza Stark Publications for gene: ABCB7 were set to
Mitochondrial disease v0.590 ABCB7 Zornitza Stark Mode of inheritance for gene: ABCB7 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mitochondrial disease v0.589 ABCB7 Zornitza Stark reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: None; Publications: 10196363, 10196363, 33157103, 31772327, 31511561, 26242992; Phenotypes: Anaemia, sideroblastic, with ataxia, MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mitochondrial disease v0.589 TOP3A Zornitza Stark Marked gene: TOP3A as ready
Mitochondrial disease v0.589 TOP3A Zornitza Stark Gene: top3a has been classified as Green List (High Evidence).
Mitochondrial disease v0.589 TOP3A Zornitza Stark Phenotypes for gene: TOP3A were changed from to Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MIM#618098
Mitochondrial disease v0.588 TOP3A Zornitza Stark Publications for gene: TOP3A were set to
Mitochondrial disease v0.587 TOP3A Zornitza Stark Mode of inheritance for gene: TOP3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.586 TOP3A Zornitza Stark reviewed gene: TOP3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30057030, 33631320, 29290614; Phenotypes: Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MIM#618098; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.586 C12orf65 Zornitza Stark Marked gene: C12orf65 as ready
Mitochondrial disease v0.586 C12orf65 Zornitza Stark Gene: c12orf65 has been classified as Green List (High Evidence).
Mitochondrial disease v0.586 C12orf65 Zornitza Stark Tag new gene name tag was added to gene: C12orf65.
Mitochondrial disease v0.586 C12orf65 Zornitza Stark Phenotypes for gene: C12orf65 were changed from to Spastic paraplegia 55, autosomal recessive, MIM#615035; Combined oxidative phosphorylation deficiency 7, MIM# 613559
Mitochondrial disease v0.585 C12orf65 Zornitza Stark Publications for gene: C12orf65 were set to
Mitochondrial disease v0.584 C12orf65 Zornitza Stark Mode of inheritance for gene: C12orf65 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.583 C12orf65 Zornitza Stark reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: 23188110, 24080142, 24198383, 20598281, 32808965, 32478789, 28804760; Phenotypes: Spastic paraplegia 55, autosomal recessive, MIM#615035, Combined oxidative phosphorylation deficiency 7, MIM# 613559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.583 SDHB Zornitza Stark Phenotypes for gene: SDHB were changed from Complex II deficiency; mitochondrial leucoencephalopathy to Mitochondrial complex II deficiency, nuclear type 4, MIM# 619224; Complex II deficiency; mitochondrial leucoencephalopathy
Mitochondrial disease v0.582 SDHB Zornitza Stark edited their review of gene: SDHB: Changed phenotypes: Mitochondrial complex II deficiency, nuclear type 4, MIM# 619224, Complex II deficiency, mitochondrial leucoencephalopathy
Mitochondrial disease v0.582 SQOR Zornitza Stark Phenotypes for gene: SQOR were changed from Leigh-like disorder to Leigh-like disorder; Sulfide:quinone oxidoreductase deficiency (SQORD), MIM#619221
Mitochondrial disease v0.581 SQOR Zornitza Stark edited their review of gene: SQOR: Changed phenotypes: Leigh-like disorder, Sulfide:quinone oxidoreductase deficiency (SQORD), MIM#619221
Mitochondrial disease v0.581 POLRMT Zornitza Stark Marked gene: POLRMT as ready
Mitochondrial disease v0.581 POLRMT Zornitza Stark Gene: polrmt has been classified as Green List (High Evidence).
Mitochondrial disease v0.581 POLRMT Zornitza Stark Publications for gene: POLRMT were set to
Mitochondrial disease v0.580 POLRMT Zornitza Stark Classified gene: POLRMT as Green List (high evidence)
Mitochondrial disease v0.580 POLRMT Zornitza Stark Gene: polrmt has been classified as Green List (High Evidence).
Mitochondrial disease v0.579 POLRMT Zornitza Stark edited their review of gene: POLRMT: Changed publications: 33602924
Mitochondrial disease v0.579 POLRMT Zornitza Stark gene: POLRMT was added
gene: POLRMT was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: POLRMT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POLRMT were set to Mitochondrial disorder; intellectual disability; hypotonia
Review for gene: POLRMT was set to GREEN
Added comment: 8 individuals from 7 families reported. 5 families with bi-allelic variants and 2 with heterozygous variants. Affected individuals presented with global developmental delay, hypotonia, short stature, and speech/intellectual disability in childhood; one subject displayed an indolent progressive external ophthalmoplegia phenotype.
Sources: Literature
Mitochondrial disease v0.578 APOO Zornitza Stark Marked gene: APOO as ready
Mitochondrial disease v0.578 APOO Zornitza Stark Gene: apoo has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.578 APOO Zornitza Stark Classified gene: APOO as Amber List (moderate evidence)
Mitochondrial disease v0.578 APOO Zornitza Stark Gene: apoo has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.577 APOO Zornitza Stark gene: APOO was added
gene: APOO was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: APOO was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: APOO were set to 32439808
Phenotypes for gene: APOO were set to Developmental delay; Lactic acidosis; Muscle weakness; Hypotonia; Repetitive infections; Cognitive impairment; Autistic behaviour
Review for gene: APOO was set to AMBER
Added comment: - PMID: 32439808 (2021) - Three generation family with c.350T>C variant in APOO, encoding a component of the MICOS complex which plays a role in maintaining inner mitochondrial membrane architecture.
Phenotypes include fatigue and muscle weakness (6/8), learning difficulties and cognitive impairment (4/8), and increased blood lactate (2/8). Four individuals were asymptomatic carriers, including one male (authors indicate variability in female carriers was due to skewed X-inactivation, although skewing studies were inconclusive in some cases). Variability in clinical presentation suggests reduced penetrance or possible contribution of additional factors.
Functional studies showed altered MICOS assembly and abnormalities in mitochondria ultrastructure in patient-derived fibroblasts. Knockdown studies in Drosophila and yeast demonstrated mitochondrial structural and functional deficiencies.
Sources: Literature
Mitochondrial disease v0.576 DNAJC30 Zornitza Stark Marked gene: DNAJC30 as ready
Mitochondrial disease v0.576 DNAJC30 Zornitza Stark Gene: dnajc30 has been classified as Green List (High Evidence).
Mitochondrial disease v0.576 DNAJC30 Zornitza Stark Classified gene: DNAJC30 as Green List (high evidence)
Mitochondrial disease v0.576 DNAJC30 Zornitza Stark Gene: dnajc30 has been classified as Green List (High Evidence).
Mitochondrial disease v0.575 DNAJC30 John Christodoulou gene: DNAJC30 was added
gene: DNAJC30 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: DNAJC30 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC30 were set to PMID: 33465056
Phenotypes for gene: DNAJC30 were set to Leber Hereditary Optic Neuropathy
Penetrance for gene: DNAJC30 were set to Incomplete
Review for gene: DNAJC30 was set to GREEN
Added comment: 33 individuals from 29 families had homozygous DNAJC30 missense variants. Three different variants identified (one responsible for most cases0.
All three variants not seen in gnomAD.
Interestingly - incomplete penetrance and male predominance in affected individuals both typical of LHON due to mtDNA mutations!
All 3 variants in the J domain of the protein.
Good functional evidence also provided
This is the first nuclear encoded phenocopy of mtLHON.
Sources: Literature
Mitochondrial disease v0.575 NFS1 Zornitza Stark Classified gene: NFS1 as Green List (high evidence)
Mitochondrial disease v0.575 NFS1 Zornitza Stark Gene: nfs1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.574 NFS1 John Christodoulou changed review comment from: Second paper reporting another family (consanguineous) with three affected children and supportive functional data.
Homozygous for the same missense variant - this family of Christian Arab descent; the family in the previous report of Mennonite background.
Suggests this is a mutation hotspot.; to: Second paper reporting another family (consanguineous) with three affected children and supportive functional data.
Homozygous for the same missense variant as reported in the 2014 paper - this family of Christian Arab descent; the family in the previous report of Mennonite background.
Suggests this is a mutation hotspot.
Mitochondrial disease v0.574 NFS1 John Christodoulou reviewed gene: NFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33457206; Phenotypes: progressive hypotonia, lactic acidosis, acute metabolic crises, liver dysfunction, increased CPK; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.574 SQOR Zornitza Stark Marked gene: SQOR as ready
Mitochondrial disease v0.574 SQOR Zornitza Stark Gene: sqor has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.574 SQOR Zornitza Stark Classified gene: SQOR as Amber List (moderate evidence)
Mitochondrial disease v0.574 SQOR Zornitza Stark Gene: sqor has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.573 SQOR Zornitza Stark Classified gene: SQOR as Amber List (moderate evidence)
Mitochondrial disease v0.573 SQOR Zornitza Stark Gene: sqor has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.572 SQOR Zornitza Stark gene: SQOR was added
gene: SQOR was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: SQOR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SQOR were set to 32160317
Phenotypes for gene: SQOR were set to Leigh-like disorder
Review for gene: SQOR was set to AMBER
Added comment: Two unrelated families and some functional data.
Sources: Literature
Mitochondrial disease v0.571 SDHD Zornitza Stark Marked gene: SDHD as ready
Mitochondrial disease v0.571 SDHD Zornitza Stark Gene: sdhd has been classified as Green List (High Evidence).
Mitochondrial disease v0.571 SDHD Zornitza Stark Phenotypes for gene: SDHD were changed from to Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167
Mitochondrial disease v0.570 SDHD Zornitza Stark Publications for gene: SDHD were set to
Mitochondrial disease v0.569 SDHD Zornitza Stark Mode of inheritance for gene: SDHD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.568 SDHD Zornitza Stark reviewed gene: SDHD: Rating: GREEN; Mode of pathogenicity: None; Publications: 24367056, 26008905; Phenotypes: Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.568 SDHAF1 Zornitza Stark Marked gene: SDHAF1 as ready
Mitochondrial disease v0.568 SDHAF1 Zornitza Stark Gene: sdhaf1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.568 SDHAF1 Zornitza Stark Phenotypes for gene: SDHAF1 were changed from to Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166
Mitochondrial disease v0.567 SDHAF1 Zornitza Stark Publications for gene: SDHAF1 were set to
Mitochondrial disease v0.566 SDHAF1 Zornitza Stark Mode of inheritance for gene: SDHAF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.565 SDHAF1 Zornitza Stark reviewed gene: SDHAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19465911, 26749241, 22995659; Phenotypes: Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.565 NDUFC2 Zornitza Stark Marked gene: NDUFC2 as ready
Mitochondrial disease v0.565 NDUFC2 Zornitza Stark Gene: ndufc2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.565 NDUFC2 Zornitza Stark Classified gene: NDUFC2 as Amber List (moderate evidence)
Mitochondrial disease v0.565 NDUFC2 Zornitza Stark Gene: ndufc2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.564 NDUFC2 Zornitza Stark gene: NDUFC2 was added
gene: NDUFC2 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: NDUFC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFC2 were set to 32969598
Phenotypes for gene: NDUFC2 were set to Mitochondrial complex I deficiency, nuclear type 36, MIM# 619170
Review for gene: NDUFC2 was set to AMBER
Added comment: Mitochondrial complex I deficiency nuclear type 36 (MC1DN36) is an autosomal recessive metabolic disorder characterized by global developmental delay, hypotonia, and failure to thrive apparent from infancy or early childhood. Affected individuals usually do not acquire ambulation, show progressive spasticity, and have impaired intellectual development with absent speech. More variable features may include pale optic discs, poor eye contact, seizures, and congenital heart defects. Laboratory studies show increased serum lactate; metabolic acidosis may occur during stress or infection. Brain imaging shows T2-weighted abnormalities in the basal ganglia and brainstem, consistent with a clinical diagnosis of Leigh syndrome.

Two unrelated families reported, some functional data.
Sources: Expert list
Mitochondrial disease v0.563 PDSS1 Zornitza Stark Marked gene: PDSS1 as ready
Mitochondrial disease v0.563 PDSS1 Zornitza Stark Gene: pdss1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.563 PDSS1 Zornitza Stark Phenotypes for gene: PDSS1 were changed from to Coenzyme Q10 deficiency, primary, 2 MIM#614651
Mitochondrial disease v0.562 PDSS1 Zornitza Stark Publications for gene: PDSS1 were set to
Mitochondrial disease v0.561 PDSS1 Zornitza Stark Mode of inheritance for gene: PDSS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.560 PDSS1 Paul De Fazio reviewed gene: PDSS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17332895, 22494076, 33285023; Phenotypes: Coenzyme Q10 deficiency, primary, 2 MIM#614651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disease v0.560 SHMT2 Zornitza Stark Phenotypes for gene: SHMT2 were changed from Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121; Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly
Mitochondrial disease v0.559 SHMT2 Zornitza Stark edited their review of gene: SHMT2: Changed phenotypes: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121, Congenital microcephaly, Infantile axial hypotonia, Spastic paraparesis, Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Abnormal cortical gyration, Hypertrophic cardiomyopathy, Abnormality of the face, Proximal placement of thumb, 2-3 toe syndactyly
Mitochondrial disease v0.559 TARS2 Zornitza Stark Publications for gene: TARS2 were set to 24827421; 26811336
Mitochondrial disease v0.558 TARS2 Zornitza Stark edited their review of gene: TARS2: Added comment: Second family reported, single affected individual, compound het missense variants, computational data only in support of pathogenicity.; Changed publications: 24827421, 26811336, 33153448
Mitochondrial disease v0.558 COX16 Bryony Thompson Classified gene: COX16 as Amber List (moderate evidence)
Mitochondrial disease v0.558 COX16 Bryony Thompson Gene: cox16 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.557 COX16 Bryony Thompson Classified gene: COX16 as Amber List (moderate evidence)
Mitochondrial disease v0.557 COX16 Bryony Thompson Gene: cox16 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.556 COX16 Bryony Thompson Marked gene: COX16 as ready
Mitochondrial disease v0.556 COX16 Bryony Thompson Gene: cox16 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.556 COX16 Bryony Thompson gene: COX16 was added
gene: COX16 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: COX16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX16 were set to 33169484
Phenotypes for gene: COX16 were set to Hypertrophic cardiomyopathy; encephalopathy; severe fatal lactic acidosis
Review for gene: COX16 was set to AMBER
Added comment: 2 unrelated patients with the same homozygous (non-consanguineous) nonsense variant c.244C>T (p.Arg82*), and isolated complex IV deficiency present in both patient fibroblasts/skeletal muscle biopsy. COX16 is involved in the biogenesis of complex IV, the terminal complex of the mitochondrial respiratory chain.
Sources: Literature
Mitochondrial disease v0.555 NDUFB10 Zornitza Stark Publications for gene: NDUFB10 were set to 28040730; 32025618
Mitochondrial disease v0.554 NDUFB10 Zornitza Stark Classified gene: NDUFB10 as Green List (high evidence)
Mitochondrial disease v0.554 NDUFB10 Zornitza Stark Gene: ndufb10 has been classified as Green List (High Evidence).
Mitochondrial disease v0.553 NDUFB10 Zornitza Stark edited their review of gene: NDUFB10: Added comment: Second family reported, functional data, upgrade to Green.; Changed rating: GREEN; Changed publications: 33169436
Mitochondrial disease v0.553 ACAD9 Zornitza Stark Marked gene: ACAD9 as ready
Mitochondrial disease v0.553 ACAD9 Zornitza Stark Gene: acad9 has been classified as Green List (High Evidence).
Mitochondrial disease v0.553 ACAD9 Zornitza Stark Phenotypes for gene: ACAD9 were changed from to Mitochondrial complex I deficiency, nuclear type 20 MIM#611126
Mitochondrial disease v0.552 ACAD9 Zornitza Stark Publications for gene: ACAD9 were set to
Mitochondrial disease v0.551 ACAD9 Zornitza Stark Mode of inheritance for gene: ACAD9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.550 ACAD9 Zornitza Stark reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: 30025539; Phenotypes: Mitochondrial complex I deficiency, nuclear type 20 MIM#611126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.550 NDUFAF6 Zornitza Stark Marked gene: NDUFAF6 as ready
Mitochondrial disease v0.550 NDUFAF6 Zornitza Stark Gene: ndufaf6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.550 NDUFAF6 Zornitza Stark Phenotypes for gene: NDUFAF6 were changed from to Mitochondrial complex I deficiency, nuclear type 17 (MIM#618239)
Mitochondrial disease v0.549 NDUFAF6 Zornitza Stark Publications for gene: NDUFAF6 were set to
Mitochondrial disease v0.548 NDUFAF6 Zornitza Stark Mode of inheritance for gene: NDUFAF6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.547 NDUFAF6 Ain Roesley reviewed gene: NDUFAF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 30642748; Phenotypes: Mitochondrial complex I deficiency, nuclear type 17 (MIM#618239); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.547 NDUFA4 Zornitza Stark edited their review of gene: NDUFA4: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065, Leigh syndrome, Complex IV deficiency
Mitochondrial disease v0.547 COX5A Zornitza Stark Phenotypes for gene: COX5A were changed from pulmonary arterial hypertension; lactic acidemia; failure to thrive; isolated complex IV deficiency to Mitochondrial complex IV deficiency, nuclear type 20, MIM#619064; pulmonary arterial hypertension; lactic acidemia; failure to thrive; isolated complex IV deficiency
Mitochondrial disease v0.546 COX5A Zornitza Stark reviewed gene: COX5A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 20, MIM#619064; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.546 PET117 Zornitza Stark Phenotypes for gene: PET117 were changed from Developmental delay to Mitochondrial complex IV deficiency, nuclear type 19, MIM#619063; Developmental delay
Mitochondrial disease v0.545 PET117 Zornitza Stark reviewed gene: PET117: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 19, MIM#619063; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.545 COX6A2 Zornitza Stark Phenotypes for gene: COX6A2 were changed from Mitochondrial complex IV deficiency, MIM# 220110 to Mitochondrial complex IV deficiency, nuclear type 18, MIM#619062
Mitochondrial disease v0.544 COX6A2 Zornitza Stark edited their review of gene: COX6A2: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 18, MIM#619062
Mitochondrial disease v0.544 APOPT1 Zornitza Stark Marked gene: APOPT1 as ready
Mitochondrial disease v0.544 APOPT1 Zornitza Stark Gene: apopt1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.544 APOPT1 Zornitza Stark Phenotypes for gene: APOPT1 were changed from to Mitochondrial complex IV deficiency, nuclear type 17, MIM#619061
Mitochondrial disease v0.543 APOPT1 Zornitza Stark Publications for gene: APOPT1 were set to 25175347
Mitochondrial disease v0.542 APOPT1 Zornitza Stark Publications for gene: APOPT1 were set to 25175347]
Mitochondrial disease v0.542 APOPT1 Zornitza Stark Publications for gene: APOPT1 were set to 25175347]
Mitochondrial disease v0.541 APOPT1 Zornitza Stark Publications for gene: APOPT1 were set to
Mitochondrial disease v0.540 APOPT1 Zornitza Stark Mode of inheritance for gene: APOPT1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.540 APOPT1 Zornitza Stark Mode of inheritance for gene: APOPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.539 APOPT1 Zornitza Stark reviewed gene: APOPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25175347]; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 17, MIM#619061; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.539 COX4I1 Zornitza Stark Phenotypes for gene: COX4I1 were changed from short stature; mild dysmorphic features; Fanconi anemia to Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060; regression; seizures; short stature; mild dysmorphic features; Fanconi anemia
Mitochondrial disease v0.538 COX4I1 Zornitza Stark Publications for gene: COX4I1 were set to 28766551; 22592081
Mitochondrial disease v0.537 COX4I1 Zornitza Stark Classified gene: COX4I1 as Amber List (moderate evidence)
Mitochondrial disease v0.537 COX4I1 Zornitza Stark Gene: cox4i1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.536 COX4I1 Zornitza Stark edited their review of gene: COX4I1: Added comment: Further family with two affected sibs reported in PMID 31290619, upgrade to Amber.; Changed rating: AMBER; Changed publications: 28766551, 22592081, 31290619; Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060
Mitochondrial disease v0.536 COX8A Zornitza Stark Phenotypes for gene: COX8A were changed from Mitochondrial complex IV deficiency, MIM# 220110 to Mitochondrial complex IV deficiency, nuclear type 15, MIM#619059
Mitochondrial disease v0.535 COX8A Zornitza Stark edited their review of gene: COX8A: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 15, MIM#619059
Mitochondrial disease v0.535 COA3 Zornitza Stark Phenotypes for gene: COA3 were changed from Mitochondrial complex IV deficiency to Mitochondrial complex IV deficiency, nuclear type 14, MIM#619058
Mitochondrial disease v0.534 COA3 Zornitza Stark edited their review of gene: COA3: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 14, MIM# 619058
Mitochondrial disease v0.534 PET100 Zornitza Stark Marked gene: PET100 as ready
Mitochondrial disease v0.534 PET100 Zornitza Stark Gene: pet100 has been classified as Green List (High Evidence).
Mitochondrial disease v0.534 PET100 Zornitza Stark Phenotypes for gene: PET100 were changed from to Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055
Mitochondrial disease v0.533 PET100 Zornitza Stark Publications for gene: PET100 were set to
Mitochondrial disease v0.532 PET100 Zornitza Stark Mode of inheritance for gene: PET100 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.531 PET100 Zornitza Stark Tag founder tag was added to gene: PET100.
Mitochondrial disease v0.531 PET100 Zornitza Stark reviewed gene: PET100: Rating: GREEN; Mode of pathogenicity: None; Publications: 24462369, 25293719, 31406627; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.531 COX20 Zornitza Stark Marked gene: COX20 as ready
Mitochondrial disease v0.531 COX20 Zornitza Stark Gene: cox20 has been classified as Green List (High Evidence).
Mitochondrial disease v0.531 COX20 Zornitza Stark Phenotypes for gene: COX20 were changed from to Mitochondrial complex IV deficiency, nuclear type 11, MIM#619054
Mitochondrial disease v0.530 COX20 Zornitza Stark Publications for gene: COX20 were set to
Mitochondrial disease v0.529 COX20 Zornitza Stark Mode of inheritance for gene: COX20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.528 COX20 Zornitza Stark reviewed gene: COX20: Rating: GREEN; Mode of pathogenicity: None; Publications: 24202787, 31079202, 30656193, 23125284, 32606554; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 11, MIM#619054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.528 COX14 Zornitza Stark Phenotypes for gene: COX14 were changed from Mitochondrial complex IV deficiency, MIM#220110 to Mitochondrial complex IV deficiency, nuclear type 10, MIM# 619053
Mitochondrial disease v0.527 COX14 Zornitza Stark edited their review of gene: COX14: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 10, MIM# 619053
Mitochondrial disease v0.527 TACO1 Zornitza Stark Phenotypes for gene: TACO1 were changed from Mitochondrial complex IV deficiency; OMIM #220110 to Mitochondrial complex IV deficiency, nuclear type 8, MIM# 619052
Mitochondrial disease v0.526 TACO1 Zornitza Stark edited their review of gene: TACO1: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 8, MIM# 619052
Mitochondrial disease v0.526 COX6B1 Zornitza Stark Marked gene: COX6B1 as ready
Mitochondrial disease v0.526 COX6B1 Zornitza Stark Gene: cox6b1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.526 COX6B1 Zornitza Stark Phenotypes for gene: COX6B1 were changed from to Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051
Mitochondrial disease v0.525 COX6B1 Zornitza Stark Publications for gene: COX6B1 were set to
Mitochondrial disease v0.524 COX6B1 Zornitza Stark Mode of inheritance for gene: COX6B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.523 COX6B1 Zornitza Stark reviewed gene: COX6B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18499082, 24781756; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.523 SCO1 Zornitza Stark Marked gene: SCO1 as ready
Mitochondrial disease v0.523 SCO1 Zornitza Stark Gene: sco1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.523 SCO1 Zornitza Stark Phenotypes for gene: SCO1 were changed from to Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048
Mitochondrial disease v0.522 SCO1 Zornitza Stark Publications for gene: SCO1 were set to
Mitochondrial disease v0.521 SCO1 Zornitza Stark Mode of inheritance for gene: SCO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.520 SCO1 Zornitza Stark reviewed gene: SCO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11013136, 19295170, 31352446, 23878101; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.520 COX10 Zornitza Stark Marked gene: COX10 as ready
Mitochondrial disease v0.520 COX10 Zornitza Stark Gene: cox10 has been classified as Green List (High Evidence).
Mitochondrial disease v0.520 COX10 Zornitza Stark Phenotypes for gene: COX10 were changed from to Mitochondrial complex IV deficiency, nuclear type 3, MIM# 619046
Mitochondrial disease v0.519 COX10 Zornitza Stark Publications for gene: COX10 were set to
Mitochondrial disease v0.518 COX10 Zornitza Stark Mode of inheritance for gene: COX10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.517 COX10 Zornitza Stark reviewed gene: COX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 10767350, 12928484, 15455402, 27290639; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 3, MIM# 619046; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.517 PTCD3 Zornitza Stark Phenotypes for gene: PTCD3 were changed from Mental retardation; optic atrophy; Leigh-like syndrome to Combined oxidative phosphorylation deficiency-51, MIM#619057; Mental retardation; optic atrophy; Leigh-like syndrome
Mitochondrial disease v0.516 PTCD3 Zornitza Stark reviewed gene: PTCD3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency-51, MIM#619057; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.516 AARS2 Zornitza Stark Marked gene: AARS2 as ready
Mitochondrial disease v0.516 AARS2 Zornitza Stark Gene: aars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.516 GARS Zornitza Stark Marked gene: GARS as ready
Mitochondrial disease v0.516 GARS Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is GARS1.
Mitochondrial disease v0.516 GARS Zornitza Stark Gene: gars has been classified as Green List (High Evidence).
Mitochondrial disease v0.516 GARS Zornitza Stark Tag new gene name tag was added to gene: GARS.
Mitochondrial disease v0.516 GARS Zornitza Stark Phenotypes for gene: GARS were changed from to Spinal muscular atrophy, infantile, James type, MIM# 619042; Charcot-Marie-Tooth disease, type 2D, MIM# 601472; Neuronopathy, distal hereditary motor, type VA, MIM# 600794; Multi-system mitochondrial disorder
Mitochondrial disease v0.515 GARS Zornitza Stark Publications for gene: GARS were set to
Mitochondrial disease v0.514 GARS Zornitza Stark Mode of inheritance for gene: GARS was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.513 GARS Zornitza Stark reviewed gene: GARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 17101916, 22462675, 31985473, 32181591, 12690580, 25168514, 26503042, 29648643, 16982418, 24669931, 28594869; Phenotypes: Spinal muscular atrophy, infantile, James type, MIM# 619042, Charcot-Marie-Tooth disease, type 2D, MIM# 601472, Neuronopathy, distal hereditary motor, type VA, MIM# 600794, Multi-system mitochondrial disorder; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.513 MICU1 Zornitza Stark Tag founder tag was added to gene: MICU1.
Mitochondrial disease v0.513 MICU1 Zornitza Stark Marked gene: MICU1 as ready
Mitochondrial disease v0.513 MICU1 Zornitza Stark Gene: micu1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.513 MICU1 Zornitza Stark Phenotypes for gene: MICU1 were changed from to Myopathy with extrapyramidal signs, MIM# 615673
Mitochondrial disease v0.512 MICU1 Zornitza Stark Publications for gene: MICU1 were set to
Mitochondrial disease v0.511 MICU1 Zornitza Stark Mode of inheritance for gene: MICU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.510 MICU1 Zornitza Stark reviewed gene: MICU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24336167, 29721912, 32395406; Phenotypes: Myopathy with extrapyramidal signs, MIM# 615673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.510 SHMT2 Zornitza Stark Marked gene: SHMT2 as ready
Mitochondrial disease v0.510 SHMT2 Zornitza Stark Gene: shmt2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.510 SHMT2 Zornitza Stark Classified gene: SHMT2 as Green List (high evidence)
Mitochondrial disease v0.510 SHMT2 Zornitza Stark Gene: shmt2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.509 SHMT2 Zornitza Stark gene: SHMT2 was added
gene: SHMT2 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: SHMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SHMT2 were set to 33015733
Phenotypes for gene: SHMT2 were set to Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly
Review for gene: SHMT2 was set to GREEN
Added comment: García‑Cazorla et al. (2020 - PMID: 33015733) report 5 individuals (from 4 families) with a novel brain and heart developmental syndrome caused by biallelic SHMT2 pathogenic variants.

All affected subjects presented similar phenotype incl. microcephaly at birth (5/5 with OFC < -2 SD though in 2/5 cases N OFC was observed later), DD and ID (1/5 mild-moderate, 1/5 moderate, 3/5 severe), motor dysfunction in the form of spastic (5/5) paraparesis, ataxia/dysmetria (3/4), intention tremor (in 3/?) and/or peripheral neuropathy (2 sibs). They exhibited corpus callosum hypoplasia (5/5) and perisylvian microgyria-like pattern (4/5). Cardiac problems were reported in all, with hypertrophic cardiomyopathy in 4/5 (from 3 families) and atrial-SD in the 5th individual (1/5). Common dysmorphic features incl. long palpebral/fissures, eversion of lateral third of lower eylids, arched eyebrows, long eyelashes, thin upper lip, short Vth finger, fetal pads, mild 2-3 toe syndactyly, proximally placed thumbs.

Biallelic variants were identified following exome sequencing in all (other investigations not mentioned). Identified variants were in all cases missense SNVs or in-frame del, which together with evidence from population databases and mouse model might suggest a hypomorphic effect of variants and intolerance/embryonic lethality for homozygous LoF ones.

SHMT2 encodes the mitohondrial form of serine hydroxymethyltransferase. The enzyme transfers one-carbon units from serine to tetrahydrofolate (THF) and generates glycine and 5,10,methylene-THF.

Mitochondrial defect was suggested by presence of ragged red fibers in myocardial biopsy of one patient. Quadriceps and myocardial biopsies of the same individual were overall suggestive of myopathic changes.

While plasma metabolites were within N range and SHMT2 protein levels not significantly altered in patient fibroblasts, the authors provide evidence for impaired enzymatic function eg. presence of the SHMT2 substrate (THF) in patient but not control (mitochondria-enriched) fibroblasts , decrease in glycine/serine ratios, impared folate metabolism. Patient fibroblasts displayed impaired oxidative capacity (reduced ATP levels in a medium without glucose, diminished oxygen consumption rates). Mitochondrial membrane potential and ROS levels were also suggestive of redox malfunction.

Shmt2 ko in mice was previously shown to be embryonically lethal attributed to severe mitochondrial respiration defects, although there was no observed brain metabolic defect.

The authors performed Shmt2 knockdown in motoneurons in Drosophila, demonstrating neuromuscular junction (# of satellite boutons) and motility defects (climbing distance/velocity).
Sources: Literature
Mitochondrial disease v0.508 HPDL Zornitza Stark edited their review of gene: HPDL: Added comment: 17 individuals from 13 families, with a spectrum of neurologic impairment ranging from a severe congenital form without any neurological development (n = 2/17, 12%) to infantile-onset presentations (n = 10/17, 59%) with moderate to severe neurodevelopmental issues, partly with a pathology reminiscent of mitochondrial disease (Leigh-like syndrome), to juvenile-onset spastic paraplegia (n = 5/17, 29%).

Frequently observed clinical findings included chronic progression of neurological signs (n = 16/17, 94%), motor developmental delay (n = 12/17, 71%), intellectual impairment (n = 11/17, 65%), microcephaly (n = 9/16, 56%), and seizures/epilepsy (n = 9/17, 53%). Other relevant clinical findings were visual disturbances/strabismus (n = 9/17, 53%) and loss of developmental milestones (n = 6/17, 35%).

Acute central respiratory failure leading to life-threatening events requiring partly mechanically assisted ventilation occurred in half of individuals with infantile presentation (n = 5/10, 50%), respectively one third of all individuals (n = 5/17, 29%).

Demyelinating neuropathy was present in three individuals (n = 3/11, 27%), with reduced sensory nerve conduction velocity (NCV) in all and severely reduced motor NCV in one.; Changed publications: 32707086; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.508 HPDL Zornitza Stark Phenotypes for gene: HPDL were changed from Progressive neurological disorder; Leigh-like syndrome to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026; Progressive neurological disorder; Leigh-like syndrome
Mitochondrial disease v0.507 HPDL Zornitza Stark edited their review of gene: HPDL: Changed rating: GREEN; Changed phenotypes: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026
Mitochondrial disease v0.507 COQ5 Zornitza Stark Phenotypes for gene: COQ5 were changed from Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability to Coenzyme Q10 deficiency, primary 9, MIM#619028; Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability
Mitochondrial disease v0.506 COQ5 Zornitza Stark edited their review of gene: COQ5: Changed phenotypes: Coenzyme Q10 deficiency, primary 9, MIM#619028, Cerebellar ataxia, encephalopathy, generalized tonic-clonic seizures, intellectual disability
Mitochondrial disease v0.506 MIEF2 Zornitza Stark Phenotypes for gene: MIEF2 were changed from Progressive muscle weakness; Exercise intolerance; Ragged red and COX negative fibres; Complex I and IV deficiency to Combined oxidative phosphorylation deficiency 49, MIM# 619024; Progressive muscle weakness; Exercise intolerance; Ragged red and COX negative fibres; Complex I and IV deficiency
Mitochondrial disease v0.505 MRPS25 Zornitza Stark Phenotypes for gene: MRPS25 were changed from Dyskinetic cerebral palsy; Mitochondrial myopathy; Partial agenesis of the corpus callosum to Combined oxidative phosphorylation deficiency 50, MIM# 619025; Dyskinetic cerebral palsy; Mitochondrial myopathy; Partial agenesis of the corpus callosum
Mitochondrial disease v0.504 MRPS25 Zornitza Stark edited their review of gene: MRPS25: Changed phenotypes: Combined oxidative phosphorylation deficiency 50, MIM# 619025, Dyskinetic cerebral palsy, Mitochondrial myopathy, Partial agenesis of the corpus callosum
Mitochondrial disease v0.504 MIEF2 Zornitza Stark edited their review of gene: MIEF2: Changed phenotypes: Combined oxidative phosphorylation deficiency 49, MIM# 619024, Progressive muscle weakness, Exercise intolerance, Ragged red and COX negative fibres, Complex I and IV deficiency
Mitochondrial disease v0.504 NDUFV2 Zornitza Stark Marked gene: NDUFV2 as ready
Mitochondrial disease v0.504 NDUFV2 Zornitza Stark Gene: ndufv2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.504 NDUFV2 Zornitza Stark Tag deep intronic tag was added to gene: NDUFV2.
Tag founder tag was added to gene: NDUFV2.
Mitochondrial disease v0.504 NDUFV2 Zornitza Stark Mode of inheritance for gene: NDUFV2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.503 NDUFV2 Zornitza Stark Phenotypes for gene: NDUFV2 were changed from to Mitochondrial complex I deficiency, nuclear type 7 (MIM#618229)
Mitochondrial disease v0.502 NDUFV2 Zornitza Stark Publications for gene: NDUFV2 were set to
Mitochondrial disease v0.502 NDUFV2 Zornitza Stark Mode of inheritance for gene: NDUFV2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.501 NDUFV2 Zornitza Stark reviewed gene: NDUFV2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7 (MIM#618229); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.501 IBA57 Zornitza Stark Marked gene: IBA57 as ready
Mitochondrial disease v0.501 IBA57 Zornitza Stark Gene: iba57 has been classified as Green List (High Evidence).
Mitochondrial disease v0.501 IBA57 Zornitza Stark Phenotypes for gene: IBA57 were changed from to Multiple mitochondrial dysfunctions syndrome 3, MIM# 615330
Mitochondrial disease v0.500 IBA57 Zornitza Stark Publications for gene: IBA57 were set to
Mitochondrial disease v0.499 IBA57 Zornitza Stark Mode of inheritance for gene: IBA57 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.498 IBA57 Zornitza Stark reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: None; Publications: 23462291, 25971455, 27785568, 28671726, 28913435; Phenotypes: Multiple mitochondrial dysfunctions syndrome 3, MIM# 615330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.498 NDUFV2 Ain Roesley reviewed gene: NDUFV2: Rating: AMBER; Mode of pathogenicity: None; Publications: 12754703, 19167255, 26008862; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7 (MIM#618229); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.498 NSUN3 Zornitza Stark Phenotypes for gene: NSUN3 were changed from combined mitochondrial respiratory chain complex deficiency to Combined oxidative phosphorylation deficiency 48, MIM# 619012
Mitochondrial disease v0.497 NSUN3 Zornitza Stark Publications for gene: NSUN3 were set to 27356879
Mitochondrial disease v0.496 NSUN3 Zornitza Stark reviewed gene: NSUN3: Rating: AMBER; Mode of pathogenicity: None; Publications: 27356879, 32488845; Phenotypes: Combined oxidative phosphorylation deficiency 48, MIM# 619012; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.496 NAXE Zornitza Stark Marked gene: NAXE as ready
Mitochondrial disease v0.496 NAXE Zornitza Stark Gene: naxe has been classified as Green List (High Evidence).
Mitochondrial disease v0.496 NAXE Zornitza Stark Phenotypes for gene: NAXE were changed from to Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186
Mitochondrial disease v0.495 NAXE Zornitza Stark Publications for gene: NAXE were set to
Mitochondrial disease v0.494 NAXE Zornitza Stark Mode of inheritance for gene: NAXE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.493 NAXE Zornitza Stark commented on gene: NAXE: Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions. More than 5 unrelated families reported.
Mitochondrial disease v0.493 NAXE Zornitza Stark reviewed gene: NAXE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27122014, 27616477, 31758406; Phenotypes: Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.493 ISCA2 Zornitza Stark Marked gene: ISCA2 as ready
Mitochondrial disease v0.493 ISCA2 Zornitza Stark Gene: isca2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.493 ISCA2 Zornitza Stark Phenotypes for gene: ISCA2 were changed from to Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370
Mitochondrial disease v0.492 ISCA2 Zornitza Stark Publications for gene: ISCA2 were set to
Mitochondrial disease v0.491 ISCA2 Zornitza Stark Mode of inheritance for gene: ISCA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.490 ISCA2 Zornitza Stark reviewed gene: ISCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25539947, 29297947, 29122497, 29359243; Phenotypes: Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.490 SLC25A46 Zornitza Stark Marked gene: SLC25A46 as ready
Mitochondrial disease v0.490 SLC25A46 Zornitza Stark Gene: slc25a46 has been classified as Green List (High Evidence).
Mitochondrial disease v0.490 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from to Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505
Mitochondrial disease v0.489 SLC25A46 Zornitza Stark Publications for gene: SLC25A46 were set to
Mitochondrial disease v0.488 SLC25A46 Zornitza Stark Mode of inheritance for gene: SLC25A46 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.487 SLC25A46 Zornitza Stark reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: None; Publications: 30178502, 26168012, 27543974, 27430653, 27390132, 28934388, 28558379; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.487 HARS2 Zornitza Stark Marked gene: HARS2 as ready
Mitochondrial disease v0.487 HARS2 Zornitza Stark Gene: hars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.487 HARS2 Zornitza Stark Phenotypes for gene: HARS2 were changed from to Perrault syndrome 2, MIM# 614926
Mitochondrial disease v0.486 HARS2 Zornitza Stark Publications for gene: HARS2 were set to
Mitochondrial disease v0.485 HARS2 Zornitza Stark Mode of inheritance for gene: HARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.484 HARS2 Zornitza Stark reviewed gene: HARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31827252; Phenotypes: Perrault syndrome 2, MIM# 614926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.484 PNPLA8 Zornitza Stark Marked gene: PNPLA8 as ready
Mitochondrial disease v0.484 PNPLA8 Zornitza Stark Gene: pnpla8 has been classified as Green List (High Evidence).
Mitochondrial disease v0.484 PNPLA8 Zornitza Stark Phenotypes for gene: PNPLA8 were changed from to Mitochondrial myopathy with lactic acidosis (MIM#251950), AR
Mitochondrial disease v0.483 PNPLA8 Zornitza Stark Publications for gene: PNPLA8 were set to
Mitochondrial disease v0.482 PNPLA8 Zornitza Stark Mode of inheritance for gene: PNPLA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.481 PNPLA8 Zornitza Stark reviewed gene: PNPLA8: Rating: GREEN; Mode of pathogenicity: None; Publications: 29681094, 25512002; Phenotypes: Mitochondrial myopathy with lactic acidosis (MIM#251950), AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.481 NDUFB10 Zornitza Stark Phenotypes for gene: NDUFB10 were changed from fatal infantile lactic acidosis; cardiomyopathy to fatal infantile lactic acidosis; cardiomyopathy; Mitochondrial complex I deficiency nuclear type 35 (MC1DN35), MIM#619003
Mitochondrial disease v0.480 NDUFB10 Zornitza Stark reviewed gene: NDUFB10: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency nuclear type 35 (MC1DN35), MIM#619003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.480 SSBP1 Zornitza Stark Phenotypes for gene: SSBP1 were changed from Optic atrophy with or without extraocular phenotypes to Optic atrophy with or without extraocular phenotypes; Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510
Mitochondrial disease v0.479 SSBP1 Zornitza Stark reviewed gene: SSBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510; Mode of inheritance: None
Mitochondrial disease v0.479 IDH3A Zornitza Stark Phenotypes for gene: IDH3A were changed from Retinitis pigmentosa to Retinitis pigmentosa 90, MIM#619007
Mitochondrial disease v0.478 IDH3A Zornitza Stark edited their review of gene: IDH3A: Changed phenotypes: Retinitis pigmentosa 90, MIM#619007
Mitochondrial disease v0.478 TRIT1 Zornitza Stark Phenotypes for gene: TRIT1 were changed from to Combined oxidative phosphorylation deficiency 35, MIM#617873
Mitochondrial disease v0.477 TRIT1 Zornitza Stark Publications for gene: TRIT1 were set to
Mitochondrial disease v0.476 TRIT1 Zornitza Stark Mode of inheritance for gene: TRIT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.475 TRIT1 Zornitza Stark reviewed gene: TRIT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32088416, 24901367, 28185376, 30977854; Phenotypes: Combined oxidative phosphorylation deficiency 35, MIM#617873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.475 CHCHD10 Zornitza Stark Marked gene: CHCHD10 as ready
Mitochondrial disease v0.475 CHCHD10 Zornitza Stark Gene: chchd10 has been classified as Green List (High Evidence).
Mitochondrial disease v0.475 CHCHD10 Zornitza Stark Phenotypes for gene: CHCHD10 were changed from to Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911; Spinal muscular atrophy, Jokela type 615048; Myopathy, isolated mitochondrial, autosomal dominant 616209
Mitochondrial disease v0.474 CHCHD10 Zornitza Stark Publications for gene: CHCHD10 were set to
Mitochondrial disease v0.473 CHCHD10 Zornitza Stark Mode of pathogenicity for gene: CHCHD10 was changed from to Other
Mitochondrial disease v0.472 CHCHD10 Zornitza Stark Mode of inheritance for gene: CHCHD10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disease v0.471 CHCHD10 Zornitza Stark Tag founder tag was added to gene: CHCHD10.
Mitochondrial disease v0.471 CHCHD10 Zornitza Stark reviewed gene: CHCHD10: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24934289, 25428574, 25193783, 32042922, 31690696, 30877432, 30874923, 31261376; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911, Spinal muscular atrophy, Jokela type 615048, Myopathy, isolated mitochondrial, autosomal dominant 616209; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disease v0.471 CA5A Zornitza Stark Tag SV/CNV tag was added to gene: CA5A.
Mitochondrial disease v0.471 AARS2 Zornitza Stark Phenotypes for gene: AARS2 were changed from to Combined oxidative phosphorylation deficiency 8 MIM#614096; Leukoencephalopathy, progressive, with ovarian failure MIM#615889; MONDO:0013570
Mitochondrial disease v0.470 AARS2 Zornitza Stark Publications for gene: AARS2 were set to
Mitochondrial disease v0.469 AARS2 Zornitza Stark Mode of inheritance for gene: AARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.468 AARS2 Zornitza Stark reviewed gene: AARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30706699, 27839525, 21549344, 25058219, 24808023; Phenotypes: Combined oxidative phosphorylation deficiency 8 MIM#614096, Leukoencephalopathy, progressive, with ovarian failure MIM#615889, MONDO:0013570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.468 MRPL44 Zornitza Stark Marked gene: MRPL44 as ready
Mitochondrial disease v0.468 MRPL44 Zornitza Stark Gene: mrpl44 has been classified as Green List (High Evidence).
Mitochondrial disease v0.468 MRPL44 Zornitza Stark Phenotypes for gene: MRPL44 were changed from to Combined oxidative phosphorylation deficiency 16, MIM# 615395
Mitochondrial disease v0.467 MRPL44 Zornitza Stark Publications for gene: MRPL44 were set to
Mitochondrial disease v0.466 MRPL44 Zornitza Stark Mode of inheritance for gene: MRPL44 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.465 MRPL44 Zornitza Stark edited their review of gene: MRPL44: Changed rating: GREEN
Mitochondrial disease v0.465 MRPL44 Zornitza Stark reviewed gene: MRPL44: Rating: ; Mode of pathogenicity: None; Publications: 23315540, 25797485; Phenotypes: Combined oxidative phosphorylation deficiency 16, MIM# 615395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.465 NDUFA13 Zornitza Stark Publications for gene: NDUFA13 were set to 25901006
Mitochondrial disease v0.464 NDUFA13 Zornitza Stark Classified gene: NDUFA13 as Amber List (moderate evidence)
Mitochondrial disease v0.464 NDUFA13 Zornitza Stark Gene: ndufa13 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.463 NDUFA13 Zornitza Stark edited their review of gene: NDUFA13: Added comment: Second family reported with some supportive functional data.; Changed rating: AMBER; Changed publications: 25901006, 32722639
Mitochondrial disease v0.463 ABAT Zornitza Stark Marked gene: ABAT as ready
Mitochondrial disease v0.463 ABAT Zornitza Stark Gene: abat has been classified as Green List (High Evidence).
Mitochondrial disease v0.463 ABAT Zornitza Stark Phenotypes for gene: ABAT were changed from to mtDNA depletion syndrome (MDS)
Mitochondrial disease v0.462 ABAT Zornitza Stark Publications for gene: ABAT were set to
Mitochondrial disease v0.461 ABAT Zornitza Stark Mode of inheritance for gene: ABAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.460 ABAT Zornitza Stark reviewed gene: ABAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 25738457, 27903293; Phenotypes: mtDNA depletion syndrome (MDS); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.460 MT-RNR2 Zornitza Stark Marked gene: MT-RNR2 as ready
Mitochondrial disease v0.460 MT-RNR2 Zornitza Stark Gene: mt-rnr2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.460 MT-RNR2 Zornitza Stark Classified gene: MT-RNR2 as Red List (low evidence)
Mitochondrial disease v0.460 MT-RNR2 Zornitza Stark Gene: mt-rnr2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.459 MT-RNR2 Chern Lim gene: MT-RNR2 was added
gene: MT-RNR2 was added to Mitochondrial disease. Sources: Expert Review,Literature
Mode of inheritance for gene gene: MT-RNR2 was set to MITOCHONDRIAL
Publications for gene: MT-RNR2 were set to 29233888
Review for gene: MT-RNR2 was set to RED
Added comment: Disease association not established (PMID:29233888 and in-house expert review).
Sources: Expert Review, Literature
Mitochondrial disease v0.459 SLC25A10 Zornitza Stark Phenotypes for gene: SLC25A10 were changed from Intractable epileptic encephalopathy to Intractable epileptic encephalopathy; Mitochondrial DNA depletion syndrome 19, MIM# 618972
Mitochondrial disease v0.458 SLC25A10 Zornitza Stark reviewed gene: SLC25A10: Rating: AMBER; Mode of pathogenicity: None; Publications: 29211846; Phenotypes: Mitochondrial DNA depletion syndrome 19, MIM# 618972; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.458 NDUFA8 Zornitza Stark Marked gene: NDUFA8 as ready
Mitochondrial disease v0.458 NDUFA8 Zornitza Stark Gene: ndufa8 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.458 NDUFA8 Zornitza Stark gene: NDUFA8 was added
gene: NDUFA8 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: NDUFA8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA8 were set to 32385911
Phenotypes for gene: NDUFA8 were set to NDUFA8-related mitochondrial disease; Developmental delay; microcehaly; seizures
Review for gene: NDUFA8 was set to RED
Added comment: Single individual reported with homozygous variant, fibroblasts showed apparent biochemical defects in mitochondrial complex I.
Sources: Literature
Mitochondrial disease v0.457 HPDL Zornitza Stark Phenotypes for gene: HPDL were changed from Progressive neurological disorder to Progressive neurological disorder; Leigh-like syndrome
Mitochondrial disease v0.456 HPDL Zornitza Stark Marked gene: HPDL as ready
Mitochondrial disease v0.456 HPDL Zornitza Stark Added comment: Comment when marking as ready: Leigh-like phenotype, HPDL has a mitochondrial localization signal and consequently localizes to mitochondria suggesting a putative role in mitochondrial metabolism.
Mitochondrial disease v0.456 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Mitochondrial disease v0.456 HPDL Zornitza Stark Classified gene: HPDL as Green List (high evidence)
Mitochondrial disease v0.456 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Mitochondrial disease v0.455 HPDL Crystle Lee gene: HPDL was added
gene: HPDL was added to Mitochondrial disease. Sources: Expert Review
Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPDL were set to 32707086
Phenotypes for gene: HPDL were set to Progressive neurological disorder
Review for gene: HPDL was set to GREEN
Added comment: Biallelic variants reported in 13 families with a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia
Sources: Expert Review
Mitochondrial disease v0.455 MRPS28 Zornitza Stark Phenotypes for gene: MRPS28 were changed from Intrauterine growth retardation; developmental delay; dysmorphism to Intrauterine growth retardation; developmental delay; dysmorphism; Combined oxidative phosphorylation deficiency 47, MIM618958
Mitochondrial disease v0.454 MRPS28 Zornitza Stark edited their review of gene: MRPS28: Changed phenotypes: Intrauterine growth retardation, developmental delay, dysmorphism, Combined oxidative phosphorylation deficiency 47, MIM618958
Mitochondrial disease v0.454 MRPS23 Zornitza Stark Phenotypes for gene: MRPS23 were changed from Hepatic disease; Combined respiratory chain complex deficiencies; Cardiomyopathy; Tubulopathy; Lactic acidosis; Structural brain abnormalities to Hepatic disease; Combined respiratory chain complex deficiencies; Cardiomyopathy; Tubulopathy; Lactic acidosis; Structural brain abnormalities; Combined oxidative phosphorylation deficiency 46, MIM618952
Mitochondrial disease v0.453 MRPS23 Zornitza Stark edited their review of gene: MRPS23: Changed phenotypes: Hepatic disease, Combined respiratory chain complex deficiencies, Cardiomyopathy, Tubulopathy, Lactic acidosis, Structural brain abnormalities, Combined oxidative phosphorylation deficiency 46, MIM618952
Mitochondrial disease v0.453 MRPL12 Zornitza Stark Phenotypes for gene: MRPL12 were changed from Growth retardation; neurological deterioration; mitochondrial translation deficiency to Growth retardation; neurological deterioration; mitochondrial translation deficiency; Combined oxidative phosphorylation deficiency 45, MIM#618951
Mitochondrial disease v0.452 MRPL12 Zornitza Stark edited their review of gene: MRPL12: Changed phenotypes: Growth retardation, neurological deterioration, mitochondrial translation deficiency, Combined oxidative phosphorylation deficiency 45, MIM#618951
Mitochondrial disease v0.452 TWNK Zornitza Stark Marked gene: TWNK as ready
Mitochondrial disease v0.452 TWNK Zornitza Stark Gene: twnk has been classified as Green List (High Evidence).
Mitochondrial disease v0.452 TWNK Zornitza Stark Phenotypes for gene: TWNK were changed from to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245; Perrault syndrome 5 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286
Mitochondrial disease v0.451 TWNK Zornitza Stark Publications for gene: TWNK were set to
Mitochondrial disease v0.450 TWNK Zornitza Stark Mode of inheritance for gene: TWNK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.449 TWNK Zornitza Stark reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: None; Publications: 32234020, 18593709; Phenotypes: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245, Perrault syndrome 5 616138, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.449 MT-CO3 Zornitza Stark Marked gene: MT-CO3 as ready
Mitochondrial disease v0.449 MT-CO3 Zornitza Stark Gene: mt-co3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.449 MT-CO3 Zornitza Stark Classified gene: MT-CO3 as Green List (high evidence)
Mitochondrial disease v0.449 MT-CO3 Zornitza Stark Gene: mt-co3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.448 MT-CO3 Chern Lim gene: MT-CO3 was added
gene: MT-CO3 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene gene: MT-CO3 was set to MITOCHONDRIAL
Publications for gene: MT-CO3 were set to 20525945; 9634511; 11063732; 12414820
Phenotypes for gene: MT-CO3 were set to Leigh syndrome; Leigh-like syndrome; Myopathy; Encephalopathy and myopathy
Review for gene: MT-CO3 was set to GREEN
gene: MT-CO3 was marked as current diagnostic
Added comment: Reported in at least 3 unrelated families (PMIDs: 20525945, 9634511, 11063732, 12414820).
Sources: Literature
Mitochondrial disease v0.448 TOMM70 Zornitza Stark Publications for gene: TOMM70 were set to
Mitochondrial disease v0.447 TOMM70 Zornitza Stark edited their review of gene: TOMM70: Changed publications: 31907385
Mitochondrial disease v0.447 TOMM70 Zornitza Stark Marked gene: TOMM70 as ready
Mitochondrial disease v0.447 TOMM70 Zornitza Stark Gene: tomm70 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.447 TOMM70 Zornitza Stark Classified gene: TOMM70 as Amber List (moderate evidence)
Mitochondrial disease v0.447 TOMM70 Zornitza Stark Gene: tomm70 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.446 TOMM70 Zornitza Stark gene: TOMM70 was added
gene: TOMM70 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: TOMM70 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TOMM70 were set to Severe anaemia; Lactic acidosis; Developmental delay
Review for gene: TOMM70 was set to AMBER
Added comment: TOM70 is a member of the TOM complex that transports cytosolic proteins into mitochondria. One individual reported with compound heterozygous variants in TOMM70 [c.794C>T (p.T265M) and c.1745C>T (p.A582V)]. Clinical features included severe anaemia, lactic acidosis, and developmental delay. Some functional data: in vitro cell model compensatory experiments.
Sources: Literature
Mitochondrial disease v0.445 NDUFS7 Ain Roesley reviewed gene: NDUFS7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22644603; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3 (MIM# 618224); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.445 ATP5E Zornitza Stark Marked gene: ATP5E as ready
Mitochondrial disease v0.445 ATP5E Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name ATP5F1E.
Mitochondrial disease v0.445 ATP5E Zornitza Stark Gene: atp5e has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.445 ATP5E Zornitza Stark Tag new gene name tag was added to gene: ATP5E.
Mitochondrial disease v0.445 ATP5D Zornitza Stark Marked gene: ATP5D as ready
Mitochondrial disease v0.445 ATP5D Zornitza Stark Gene: atp5d has been classified as Green List (High Evidence).
Mitochondrial disease v0.445 ATP5D Zornitza Stark Phenotypes for gene: ATP5D were changed from to Mitochondrial complex V (ATP synthase) deficiency, MIM# 618120
Mitochondrial disease v0.444 ATP5D Zornitza Stark Publications for gene: ATP5D were set to
Mitochondrial disease v0.443 ATP5D Zornitza Stark Mode of inheritance for gene: ATP5D was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.443 ATP5D Zornitza Stark Mode of inheritance for gene: ATP5D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.442 ATP5D Zornitza Stark Tag new gene name tag was added to gene: ATP5D.
Mitochondrial disease v0.442 ATP5D Zornitza Stark reviewed gene: ATP5D: Rating: GREEN; Mode of pathogenicity: None; Publications: 29478781; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, MIM# 618120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.442 ATP5A1 Zornitza Stark Marked gene: ATP5A1 as ready
Mitochondrial disease v0.442 ATP5A1 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name: ATP5F1A
Mitochondrial disease v0.442 ATP5A1 Zornitza Stark Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.442 ATP5A1 Zornitza Stark Tag new gene name tag was added to gene: ATP5A1.
Mitochondrial disease v0.442 DNM2 Kristin Rigbye commented on gene: DNM2
Mitochondrial disease v0.442 ATAD3A Zornitza Stark Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome, MIM# 617183 to Harel-Yoon syndrome, MIM# 617183; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME), MIM# 618810
Mitochondrial disease v0.441 ATAD3A Zornitza Stark Publications for gene: ATAD3A were set to 27640307; 32004445
Mitochondrial disease v0.440 ATAD3A Zornitza Stark Mode of pathogenicity for gene: ATAD3A was changed from to Other
Mitochondrial disease v0.439 GDAP1 Kristin Rigbye reviewed gene: GDAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disease v0.439 ATAD3A David Thorburn reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28549128; Phenotypes: Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME) 618810; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.438 GMPR Zornitza Stark Marked gene: GMPR as ready
Mitochondrial disease v0.438 GMPR Zornitza Stark Gene: gmpr has been classified as Red List (Low Evidence).
Mitochondrial disease v0.438 CRAT Zornitza Stark Marked gene: CRAT as ready
Mitochondrial disease v0.438 CRAT Zornitza Stark Gene: crat has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.438 CRAT Zornitza Stark Classified gene: CRAT as Amber List (moderate evidence)
Mitochondrial disease v0.438 CRAT Zornitza Stark Gene: crat has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.437 CRAT Zornitza Stark gene: CRAT was added
gene: CRAT was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: CRAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRAT were set to 29395073; 31448845
Phenotypes for gene: CRAT were set to Neurodegeneration with brain iron accumulation 8, MIM# 617917; Leigh syndrome
Review for gene: CRAT was set to AMBER
Added comment: Two unrelated families reported with bi-allelic variants, one with NBIA and one with Leigh syndrome phenotype.
Sources: Literature
Mitochondrial disease v0.436 GMPR Bryony Thompson Classified gene: GMPR as Red List (low evidence)
Mitochondrial disease v0.436 GMPR Bryony Thompson Added comment: Comment on list classification: Insufficient evidence currently.
Mitochondrial disease v0.436 GMPR Bryony Thompson Gene: gmpr has been classified as Red List (Low Evidence).
Mitochondrial disease v0.435 GMPR Bryony Thompson gene: GMPR was added
gene: GMPR was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: GMPR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GMPR were set to 31600844
Phenotypes for gene: GMPR were set to progressive external ophthalmoplegia
Review for gene: GMPR was set to AMBER
Added comment: A heterozygous missense was identified in a case with late-onset adPEO and multiple mtDNA deletions in the cases skeletal muscle. GMPR deficiency was confirmed, but marked defects of mtDNA replication or nucleotide homeostasis was not demonstrated in patient cells. No other functional assays conducted.
Sources: Literature
Mitochondrial disease v0.434 CHCHD2 Zornitza Stark Marked gene: CHCHD2 as ready
Mitochondrial disease v0.434 CHCHD2 Zornitza Stark Gene: chchd2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.434 IDH3A Zornitza Stark Marked gene: IDH3A as ready
Mitochondrial disease v0.434 IDH3A Zornitza Stark Gene: idh3a has been classified as Green List (High Evidence).
Mitochondrial disease v0.434 PITRM1 Zornitza Stark Marked gene: PITRM1 as ready
Mitochondrial disease v0.434 PITRM1 Zornitza Stark Gene: pitrm1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.434 SLC22A5 Zornitza Stark Marked gene: SLC22A5 as ready
Mitochondrial disease v0.434 SLC22A5 Zornitza Stark Gene: slc22a5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.434 NSUN3 Zornitza Stark Marked gene: NSUN3 as ready
Mitochondrial disease v0.434 NSUN3 Zornitza Stark Gene: nsun3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.434 OXA1L Zornitza Stark Marked gene: OXA1L as ready
Mitochondrial disease v0.434 OXA1L Zornitza Stark Gene: oxa1l has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.434 PTCD3 Zornitza Stark Marked gene: PTCD3 as ready
Mitochondrial disease v0.434 PTCD3 Zornitza Stark Gene: ptcd3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.434 SLC25A10 Zornitza Stark Marked gene: SLC25A10 as ready
Mitochondrial disease v0.434 SLC25A10 Zornitza Stark Gene: slc25a10 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.434 TIMMDC1 Zornitza Stark Marked gene: TIMMDC1 as ready
Mitochondrial disease v0.434 TIMMDC1 Zornitza Stark Gene: timmdc1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.434 TIMM22 Zornitza Stark Marked gene: TIMM22 as ready
Mitochondrial disease v0.434 TIMM22 Zornitza Stark Gene: timm22 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.434 TMEM65 Zornitza Stark Marked gene: TMEM65 as ready
Mitochondrial disease v0.434 TMEM65 Zornitza Stark Gene: tmem65 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.434 USMG5 Zornitza Stark Marked gene: USMG5 as ready
Mitochondrial disease v0.434 USMG5 Zornitza Stark Gene: usmg5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.434 CISD2 Zornitza Stark Marked gene: CISD2 as ready
Mitochondrial disease v0.434 CISD2 Zornitza Stark Gene: cisd2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.434 CISD2 Zornitza Stark Classified gene: CISD2 as Green List (high evidence)
Mitochondrial disease v0.434 CISD2 Zornitza Stark Gene: cisd2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.433 COX5A Zornitza Stark Marked gene: COX5A as ready
Mitochondrial disease v0.433 COX5A Zornitza Stark Gene: cox5a has been classified as Red List (Low Evidence).
Mitochondrial disease v0.433 KIF5A Zornitza Stark Marked gene: KIF5A as ready
Mitochondrial disease v0.433 KIF5A Zornitza Stark Gene: kif5a has been classified as Red List (Low Evidence).
Mitochondrial disease v0.433 KIF5A Zornitza Stark Classified gene: KIF5A as Red List (low evidence)
Mitochondrial disease v0.433 KIF5A Zornitza Stark Gene: kif5a has been classified as Red List (Low Evidence).
Mitochondrial disease v0.432 KIF5A Zornitza Stark Classified gene: KIF5A as Amber List (moderate evidence)
Mitochondrial disease v0.432 KIF5A Zornitza Stark Gene: kif5a has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.431 PET117 Zornitza Stark Marked gene: PET117 as ready
Mitochondrial disease v0.431 PET117 Zornitza Stark Gene: pet117 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.431 PTCD1 Zornitza Stark Marked gene: PTCD1 as ready
Mitochondrial disease v0.431 PTCD1 Zornitza Stark Gene: ptcd1 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.431 COX4I1 Zornitza Stark Marked gene: COX4I1 as ready
Mitochondrial disease v0.431 COX4I1 Zornitza Stark Gene: cox4i1 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.431 COX4I1 Zornitza Stark Publications for gene: COX4I1 were set to 28766551
Mitochondrial disease v0.430 COX4I1 Zornitza Stark changed review comment from: Two more variants reported in PMID: 22592081: one is non-coding and the other rare missense, appear to have been identified in separate individuals.; to: Two more variants reported in PMID: 22592081: one is non-coding and the other rare missense, appear to have been identified in separate individuals, i.e. heterozygous in each individual.
Mitochondrial disease v0.430 MT-TS2 Zornitza Stark Tag mtDNA tag was added to gene: MT-TS2.
Mitochondrial disease v0.430 MT-TK Zornitza Stark Tag mtDNA tag was added to gene: MT-TK.
Mitochondrial disease v0.430 MT-TE Zornitza Stark Tag mtDNA tag was added to gene: MT-TE.
Mitochondrial disease v0.430 MT-TC Zornitza Stark Tag mtDNA tag was added to gene: MT-TC.
Mitochondrial disease v0.430 MT-RNR1 Zornitza Stark Tag mtDNA tag was added to gene: MT-RNR1.
Mitochondrial disease v0.430 MT-ND6 Zornitza Stark Tag mtDNA tag was added to gene: MT-ND6.
Mitochondrial disease v0.430 MT-ND4L Zornitza Stark Tag mtDNA tag was added to gene: MT-ND4L.
Mitochondrial disease v0.430 MT-ND2 Zornitza Stark Tag mtDNA tag was added to gene: MT-ND2.
Mitochondrial disease v0.430 MT-ATP8 Zornitza Stark Tag mtDNA tag was added to gene: MT-ATP8.
Mitochondrial disease v0.430 MT-TY Zornitza Stark Marked gene: MT-TY as ready
Mitochondrial disease v0.430 MT-TY Zornitza Stark Gene: mt-ty has been classified as Green List (High Evidence).
Mitochondrial disease v0.430 MT-TY Zornitza Stark Tag somatic tag was added to gene: MT-TY.
Tag mtDNA tag was added to gene: MT-TY.
Mitochondrial disease v0.430 MT-TY Zornitza Stark Classified gene: MT-TY as Green List (high evidence)
Mitochondrial disease v0.430 MT-TY Zornitza Stark Gene: mt-ty has been classified as Green List (High Evidence).
Mitochondrial disease v0.429 MT-TY Zornitza Stark gene: MT-TY was added
gene: MT-TY was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TY was set to MITOCHONDRIAL
Phenotypes for gene: MT-TY were set to Progressive external ophthalmoplegia; Cardiomyopathy; Myopathy
Review for gene: MT-TY was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.428 MT-TW Zornitza Stark Marked gene: MT-TW as ready
Mitochondrial disease v0.428 MT-TW Zornitza Stark Gene: mt-tw has been classified as Green List (High Evidence).
Mitochondrial disease v0.428 MT-TW Zornitza Stark Tag mtDNA tag was added to gene: MT-TW.
Mitochondrial disease v0.428 MT-TW Zornitza Stark Classified gene: MT-TW as Green List (high evidence)
Mitochondrial disease v0.428 MT-TW Zornitza Stark Gene: mt-tw has been classified as Green List (High Evidence).
Mitochondrial disease v0.427 MT-TW Zornitza Stark gene: MT-TW was added
gene: MT-TW was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TW was set to MITOCHONDRIAL
Phenotypes for gene: MT-TW were set to Encephalomyopathy
Review for gene: MT-TW was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.426 MT-TV Zornitza Stark Tag mtDNA tag was added to gene: MT-TV.
Mitochondrial disease v0.426 MT-TV Zornitza Stark Marked gene: MT-TV as ready
Mitochondrial disease v0.426 MT-TV Zornitza Stark Gene: mt-tv has been classified as Green List (High Evidence).
Mitochondrial disease v0.426 MT-TV Zornitza Stark Classified gene: MT-TV as Green List (high evidence)
Mitochondrial disease v0.426 MT-TV Zornitza Stark Gene: mt-tv has been classified as Green List (High Evidence).
Mitochondrial disease v0.425 MT-TV Zornitza Stark gene: MT-TV was added
gene: MT-TV was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TV was set to MITOCHONDRIAL
Phenotypes for gene: MT-TV were set to Ataxia; Seizures; Deafness
Review for gene: MT-TV was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.424 MT-TT Zornitza Stark Marked gene: MT-TT as ready
Mitochondrial disease v0.424 MT-TT Zornitza Stark Gene: mt-tt has been classified as Red List (Low Evidence).
Mitochondrial disease v0.424 MT-TT Zornitza Stark Tag mtDNA tag was added to gene: MT-TT.
Mitochondrial disease v0.424 MT-TT Zornitza Stark gene: MT-TT was added
gene: MT-TT was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TT was set to MITOCHONDRIAL
Review for gene: MT-TT was set to RED
Added comment: Sources: Expert list
Mitochondrial disease v0.423 MT-TS2 Zornitza Stark Marked gene: MT-TS2 as ready
Mitochondrial disease v0.423 MT-TS2 Zornitza Stark Gene: mt-ts2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.423 MT-TS2 Zornitza Stark Classified gene: MT-TS2 as Green List (high evidence)
Mitochondrial disease v0.423 MT-TS2 Zornitza Stark Gene: mt-ts2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.422 MT-TS2 Zornitza Stark gene: MT-TS2 was added
gene: MT-TS2 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TS2 was set to MITOCHONDRIAL
Phenotypes for gene: MT-TS2 were set to MERRF; MELAS; Cerebellar ataxia
Review for gene: MT-TS2 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.421 MT-TS1 Zornitza Stark Marked gene: MT-TS1 as ready
Mitochondrial disease v0.421 MT-TS1 Zornitza Stark Gene: mt-ts1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.421 MT-TS1 Zornitza Stark Tag mtDNA tag was added to gene: MT-TS1.
Mitochondrial disease v0.421 MT-TS1 Zornitza Stark Classified gene: MT-TS1 as Green List (high evidence)
Mitochondrial disease v0.421 MT-TS1 Zornitza Stark Gene: mt-ts1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.420 MT-TS1 Zornitza Stark gene: MT-TS1 was added
gene: MT-TS1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TS1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-TS1 were set to MERRF; MELAS; Deafness
Review for gene: MT-TS1 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.419 MT-TR Zornitza Stark Marked gene: MT-TR as ready
Mitochondrial disease v0.419 MT-TR Zornitza Stark Gene: mt-tr has been classified as Green List (High Evidence).
Mitochondrial disease v0.419 MT-TR Zornitza Stark Tag mtDNA tag was added to gene: MT-TR.
Mitochondrial disease v0.419 MT-TR Zornitza Stark Classified gene: MT-TR as Green List (high evidence)
Mitochondrial disease v0.419 MT-TR Zornitza Stark Gene: mt-tr has been classified as Green List (High Evidence).
Mitochondrial disease v0.418 MT-TR Zornitza Stark gene: MT-TR was added
gene: MT-TR was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TR was set to MITOCHONDRIAL
Phenotypes for gene: MT-TR were set to Encephalomyopathy
Review for gene: MT-TR was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.417 MT-TQ Zornitza Stark Marked gene: MT-TQ as ready
Mitochondrial disease v0.417 MT-TQ Zornitza Stark Gene: mt-tq has been classified as Green List (High Evidence).
Mitochondrial disease v0.417 MT-TQ Zornitza Stark Tag mtDNA tag was added to gene: MT-TQ.
Mitochondrial disease v0.417 MT-TQ Zornitza Stark Classified gene: MT-TQ as Green List (high evidence)
Mitochondrial disease v0.417 MT-TQ Zornitza Stark Gene: mt-tq has been classified as Green List (High Evidence).
Mitochondrial disease v0.416 MT-TQ Zornitza Stark gene: MT-TQ was added
gene: MT-TQ was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TQ was set to MITOCHONDRIAL
Phenotypes for gene: MT-TQ were set to MELAS; deafness; mitochondrial myopathy
Review for gene: MT-TQ was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.415 MT-TP Zornitza Stark Marked gene: MT-TP as ready
Mitochondrial disease v0.415 MT-TP Zornitza Stark Gene: mt-tp has been classified as Green List (High Evidence).
Mitochondrial disease v0.415 MT-TP Zornitza Stark Tag mtDNA tag was added to gene: MT-TP.
Mitochondrial disease v0.415 MT-TP Zornitza Stark Classified gene: MT-TP as Green List (high evidence)
Mitochondrial disease v0.415 MT-TP Zornitza Stark Gene: mt-tp has been classified as Green List (High Evidence).
Mitochondrial disease v0.414 MT-TP Zornitza Stark gene: MT-TP was added
gene: MT-TP was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TP was set to MITOCHONDRIAL
Phenotypes for gene: MT-TP were set to MERRF; myopathy
Review for gene: MT-TP was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.413 MT-TN Zornitza Stark Marked gene: MT-TN as ready
Mitochondrial disease v0.413 MT-TN Zornitza Stark Gene: mt-tn has been classified as Green List (High Evidence).
Mitochondrial disease v0.413 MT-TN Zornitza Stark Classified gene: MT-TN as Green List (high evidence)
Mitochondrial disease v0.413 MT-TN Zornitza Stark Gene: mt-tn has been classified as Green List (High Evidence).
Mitochondrial disease v0.412 MT-TN Zornitza Stark gene: MT-TN was added
gene: MT-TN was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TN was set to MITOCHONDRIAL
Phenotypes for gene: MT-TN were set to Mitochondrial myopathy
Review for gene: MT-TN was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.411 MT-TM Zornitza Stark Marked gene: MT-TM as ready
Mitochondrial disease v0.411 MT-TM Zornitza Stark Gene: mt-tm has been classified as Green List (High Evidence).
Mitochondrial disease v0.411 MT-TM Zornitza Stark Tag mtDNA tag was added to gene: MT-TM.
Mitochondrial disease v0.411 MT-TM Zornitza Stark Classified gene: MT-TM as Green List (high evidence)
Mitochondrial disease v0.411 MT-TM Zornitza Stark Gene: mt-tm has been classified as Green List (High Evidence).
Mitochondrial disease v0.410 MT-TM Zornitza Stark gene: MT-TM was added
gene: MT-TM was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TM was set to MITOCHONDRIAL
Phenotypes for gene: MT-TM were set to Mitochondrial myopathy
Review for gene: MT-TM was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.409 MT-TL2 Zornitza Stark Marked gene: MT-TL2 as ready
Mitochondrial disease v0.409 MT-TL2 Zornitza Stark Gene: mt-tl2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.409 MT-TL2 Zornitza Stark Tag mtDNA tag was added to gene: MT-TL2.
Mitochondrial disease v0.409 MT-TL2 Zornitza Stark Classified gene: MT-TL2 as Green List (high evidence)
Mitochondrial disease v0.409 MT-TL2 Zornitza Stark Gene: mt-tl2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.408 MT-TL2 Zornitza Stark gene: MT-TL2 was added
gene: MT-TL2 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TL2 was set to MITOCHONDRIAL
Phenotypes for gene: MT-TL2 were set to Myopathy; Cardiomyopathy; Encephalomyopathy
Review for gene: MT-TL2 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.407 MT-TL1 Zornitza Stark Marked gene: MT-TL1 as ready
Mitochondrial disease v0.407 MT-TL1 Zornitza Stark Gene: mt-tl1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.407 MT-TL1 Zornitza Stark Tag mtDNA tag was added to gene: MT-TL1.
Mitochondrial disease v0.407 MT-TL1 Zornitza Stark Classified gene: MT-TL1 as Green List (high evidence)
Mitochondrial disease v0.407 MT-TL1 Zornitza Stark Gene: mt-tl1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.406 MT-TL1 Zornitza Stark gene: MT-TL1 was added
gene: MT-TL1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-TL1 were set to MELAS
Review for gene: MT-TL1 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.405 MT-TK Zornitza Stark Marked gene: MT-TK as ready
Mitochondrial disease v0.405 MT-TK Zornitza Stark Gene: mt-tk has been classified as Green List (High Evidence).
Mitochondrial disease v0.405 MT-TK Zornitza Stark Classified gene: MT-TK as Green List (high evidence)
Mitochondrial disease v0.405 MT-TK Zornitza Stark Gene: mt-tk has been classified as Green List (High Evidence).
Mitochondrial disease v0.404 MT-TK Zornitza Stark gene: MT-TK was added
gene: MT-TK was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TK was set to MITOCHONDRIAL
Phenotypes for gene: MT-TK were set to MERRF; Encephalopathy; Deafness; Cardiomyopathy
Review for gene: MT-TK was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.403 MT-TI Zornitza Stark Marked gene: MT-TI as ready
Mitochondrial disease v0.403 MT-TI Zornitza Stark Gene: mt-ti has been classified as Green List (High Evidence).
Mitochondrial disease v0.403 MT-TI Zornitza Stark Tag mtDNA tag was added to gene: MT-TI.
Mitochondrial disease v0.403 MT-TI Zornitza Stark Classified gene: MT-TI as Green List (high evidence)
Mitochondrial disease v0.403 MT-TI Zornitza Stark Gene: mt-ti has been classified as Green List (High Evidence).
Mitochondrial disease v0.402 MT-TI Zornitza Stark gene: MT-TI was added
gene: MT-TI was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TI was set to MITOCHONDRIAL
Phenotypes for gene: MT-TI were set to Mitochondrial myopathy; Encephalopathy
Review for gene: MT-TI was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.401 MT-TH Zornitza Stark Tag mtDNA tag was added to gene: MT-TH.
Mitochondrial disease v0.401 MT-TH Zornitza Stark Marked gene: MT-TH as ready
Mitochondrial disease v0.401 MT-TH Zornitza Stark Gene: mt-th has been classified as Green List (High Evidence).
Mitochondrial disease v0.401 MT-TH Zornitza Stark Classified gene: MT-TH as Green List (high evidence)
Mitochondrial disease v0.401 MT-TH Zornitza Stark Gene: mt-th has been classified as Green List (High Evidence).
Mitochondrial disease v0.400 MT-TH Zornitza Stark gene: MT-TH was added
gene: MT-TH was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TH was set to MITOCHONDRIAL
Phenotypes for gene: MT-TH were set to Dilated cardiomyopathy; Retinopathy; Deafness; MELAS; MERFF
Review for gene: MT-TH was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.399 MT-TG Zornitza Stark Marked gene: MT-TG as ready
Mitochondrial disease v0.399 MT-TG Zornitza Stark Gene: mt-tg has been classified as Green List (High Evidence).
Mitochondrial disease v0.399 MT-TG Zornitza Stark Tag mtDNA tag was added to gene: MT-TG.
Mitochondrial disease v0.399 MT-TG Zornitza Stark Classified gene: MT-TG as Green List (high evidence)
Mitochondrial disease v0.399 MT-TG Zornitza Stark Gene: mt-tg has been classified as Green List (High Evidence).
Mitochondrial disease v0.398 MT-TG Zornitza Stark gene: MT-TG was added
gene: MT-TG was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TG was set to MITOCHONDRIAL
Phenotypes for gene: MT-TG were set to Cardiomyopathy
Review for gene: MT-TG was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.397 MT-TF Zornitza Stark Marked gene: MT-TF as ready
Mitochondrial disease v0.397 MT-TF Zornitza Stark Gene: mt-tf has been classified as Green List (High Evidence).
Mitochondrial disease v0.397 MT-TF Zornitza Stark Tag mtDNA tag was added to gene: MT-TF.
Mitochondrial disease v0.397 MT-TF Zornitza Stark Classified gene: MT-TF as Green List (high evidence)
Mitochondrial disease v0.397 MT-TF Zornitza Stark Gene: mt-tf has been classified as Green List (High Evidence).
Mitochondrial disease v0.396 MT-TF Zornitza Stark gene: MT-TF was added
gene: MT-TF was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TF was set to MITOCHONDRIAL
Phenotypes for gene: MT-TF were set to MELAS; MERFF; Encephalopathy; Myopathy
Review for gene: MT-TF was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.395 MT-TE Zornitza Stark Marked gene: MT-TE as ready
Mitochondrial disease v0.395 MT-TE Zornitza Stark Gene: mt-te has been classified as Green List (High Evidence).
Mitochondrial disease v0.395 MT-TE Zornitza Stark Classified gene: MT-TE as Green List (high evidence)
Mitochondrial disease v0.395 MT-TE Zornitza Stark Gene: mt-te has been classified as Green List (High Evidence).
Mitochondrial disease v0.394 MT-TE Zornitza Stark gene: MT-TE was added
gene: MT-TE was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TE was set to MITOCHONDRIAL
Phenotypes for gene: MT-TE were set to Mitochondrial myopathy; Deafness; Diabetes
Review for gene: MT-TE was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.393 MT-TD Zornitza Stark Marked gene: MT-TD as ready
Mitochondrial disease v0.393 MT-TD Zornitza Stark Gene: mt-td has been classified as Green List (High Evidence).
Mitochondrial disease v0.393 MT-TD Zornitza Stark Tag mtDNA tag was added to gene: MT-TD.
Mitochondrial disease v0.393 MT-TD Zornitza Stark Classified gene: MT-TD as Green List (high evidence)
Mitochondrial disease v0.393 MT-TD Zornitza Stark Gene: mt-td has been classified as Green List (High Evidence).
Mitochondrial disease v0.392 MT-TD Zornitza Stark gene: MT-TD was added
gene: MT-TD was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TD was set to MITOCHONDRIAL
Phenotypes for gene: MT-TD were set to Mitochondrial myopathy
Review for gene: MT-TD was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.391 MT-TC Zornitza Stark Marked gene: MT-TC as ready
Mitochondrial disease v0.391 MT-TC Zornitza Stark Gene: mt-tc has been classified as Green List (High Evidence).
Mitochondrial disease v0.391 MT-TC Zornitza Stark Classified gene: MT-TC as Green List (high evidence)
Mitochondrial disease v0.391 MT-TC Zornitza Stark Gene: mt-tc has been classified as Green List (High Evidence).
Mitochondrial disease v0.390 MT-TC Zornitza Stark gene: MT-TC was added
gene: MT-TC was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TC was set to MITOCHONDRIAL
Phenotypes for gene: MT-TC were set to MELAS; Dystonia
Review for gene: MT-TC was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.389 MT-TA Zornitza Stark Marked gene: MT-TA as ready
Mitochondrial disease v0.389 MT-TA Zornitza Stark Gene: mt-ta has been classified as Green List (High Evidence).
Mitochondrial disease v0.389 MT-TA Zornitza Stark Tag mtDNA tag was added to gene: MT-TA.
Mitochondrial disease v0.389 MT-TA Zornitza Stark Classified gene: MT-TA as Green List (high evidence)
Mitochondrial disease v0.389 MT-TA Zornitza Stark Gene: mt-ta has been classified as Green List (High Evidence).
Mitochondrial disease v0.388 MT-TA Zornitza Stark gene: MT-TA was added
gene: MT-TA was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TA was set to MITOCHONDRIAL
Phenotypes for gene: MT-TA were set to Mitochondrial myopathy
Review for gene: MT-TA was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.387 MT-RNR1 Zornitza Stark Marked gene: MT-RNR1 as ready
Mitochondrial disease v0.387 MT-RNR1 Zornitza Stark Gene: mt-rnr1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.387 MT-RNR1 Zornitza Stark Classified gene: MT-RNR1 as Green List (high evidence)
Mitochondrial disease v0.387 MT-RNR1 Zornitza Stark Gene: mt-rnr1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.386 MT-RNR1 Zornitza Stark gene: MT-RNR1 was added
gene: MT-RNR1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-RNR1 were set to Deafness; Cardiomyopathy
Review for gene: MT-RNR1 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.385 MT-ND6 Zornitza Stark Marked gene: MT-ND6 as ready
Mitochondrial disease v0.385 MT-ND6 Zornitza Stark Gene: mt-nd6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.385 MT-ND6 Zornitza Stark Classified gene: MT-ND6 as Green List (high evidence)
Mitochondrial disease v0.385 MT-ND6 Zornitza Stark Gene: mt-nd6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.384 MT-ND6 Zornitza Stark gene: MT-ND6 was added
gene: MT-ND6 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND6 were set to Mitochondrial cardiomyopathy complex I deficiency; Leber's optic neuropathy; MELAS; Dystonia; Striatal necrosis, bilateral
Review for gene: MT-ND6 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.383 MT-ND5 Zornitza Stark Tag mtDNA tag was added to gene: MT-ND5.
Mitochondrial disease v0.383 MT-ND5 Zornitza Stark Marked gene: MT-ND5 as ready
Mitochondrial disease v0.383 MT-ND5 Zornitza Stark Gene: mt-nd5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.383 MT-ND5 Zornitza Stark Classified gene: MT-ND5 as Green List (high evidence)
Mitochondrial disease v0.383 MT-ND5 Zornitza Stark Gene: mt-nd5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.382 MT-ND5 Zornitza Stark gene: MT-ND5 was added
gene: MT-ND5 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ND5 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND5 were set to Mitochondrial complex I deficiency; Leber's optic neuropathy; MERFF
Review for gene: MT-ND5 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.381 MT-ND4L Zornitza Stark Marked gene: MT-ND4L as ready
Mitochondrial disease v0.381 MT-ND4L Zornitza Stark Gene: mt-nd4l has been classified as Green List (High Evidence).
Mitochondrial disease v0.381 MT-ND4L Zornitza Stark Classified gene: MT-ND4L as Green List (high evidence)
Mitochondrial disease v0.381 MT-ND4L Zornitza Stark Gene: mt-nd4l has been classified as Green List (High Evidence).
Mitochondrial disease v0.380 MT-ND4L Zornitza Stark gene: MT-ND4L was added
gene: MT-ND4L was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ND4L was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND4L were set to Leber's optic atrophy
Review for gene: MT-ND4L was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.379 MT-ND4 Zornitza Stark Tag mtDNA tag was added to gene: MT-ND4.
Mitochondrial disease v0.379 MT-ND4 Zornitza Stark Marked gene: MT-ND4 as ready
Mitochondrial disease v0.379 MT-ND4 Zornitza Stark Gene: mt-nd4 has been classified as Green List (High Evidence).
Mitochondrial disease v0.379 MT-ND4 Zornitza Stark Classified gene: MT-ND4 as Green List (high evidence)
Mitochondrial disease v0.379 MT-ND4 Zornitza Stark Gene: mt-nd4 has been classified as Green List (High Evidence).
Mitochondrial disease v0.378 MT-ND4 Zornitza Stark gene: MT-ND4 was added
gene: MT-ND4 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND4 were set to Mitochondrial complex I deficiency; Leber's optic neuropathy; Dystonia
Review for gene: MT-ND4 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.377 MT-ND3 Zornitza Stark Tag mtDNA tag was added to gene: MT-ND3.
Mitochondrial disease v0.377 MT-ND3 Zornitza Stark Marked gene: MT-ND3 as ready
Mitochondrial disease v0.377 MT-ND3 Zornitza Stark Gene: mt-nd3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.377 MT-ND3 Zornitza Stark Classified gene: MT-ND3 as Green List (high evidence)
Mitochondrial disease v0.377 MT-ND3 Zornitza Stark Gene: mt-nd3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.376 MT-ND3 Zornitza Stark gene: MT-ND3 was added
gene: MT-ND3 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ND3 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND3 were set to Complex I deficiency
Review for gene: MT-ND3 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.375 MT-ND2 Zornitza Stark Marked gene: MT-ND2 as ready
Mitochondrial disease v0.375 MT-ND2 Zornitza Stark Gene: mt-nd2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.375 MT-ND2 Zornitza Stark Classified gene: MT-ND2 as Green List (high evidence)
Mitochondrial disease v0.375 MT-ND2 Zornitza Stark Gene: mt-nd2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.374 MT-ND2 Zornitza Stark gene: MT-ND2 was added
gene: MT-ND2 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ND2 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND2 were set to Mitochondrial complex I deficiency; Leber's optic neuropathy
Review for gene: MT-ND2 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.373 MT-ND1 Zornitza Stark Marked gene: MT-ND1 as ready
Mitochondrial disease v0.373 MT-ND1 Zornitza Stark Gene: mt-nd1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.373 MT-ND1 Zornitza Stark Tag mtDNA tag was added to gene: MT-ND1.
Mitochondrial disease v0.373 MT-ND1 Zornitza Stark Classified gene: MT-ND1 as Green List (high evidence)
Mitochondrial disease v0.373 MT-ND1 Zornitza Stark Gene: mt-nd1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.372 MT-ND1 Zornitza Stark gene: MT-ND1 was added
gene: MT-ND1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND1 were set to Mitochondrial complex I deficiency; Leber's optic neuropathy; Deafness; Dystonia
Review for gene: MT-ND1 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.371 MT-CYB Zornitza Stark Tag mtDNA tag was added to gene: MT-CYB.
Mitochondrial disease v0.371 MT-CYB Zornitza Stark Marked gene: MT-CYB as ready
Mitochondrial disease v0.371 MT-CYB Zornitza Stark Gene: mt-cyb has been classified as Green List (High Evidence).
Mitochondrial disease v0.371 MT-CYB Zornitza Stark Classified gene: MT-CYB as Green List (high evidence)
Mitochondrial disease v0.371 MT-CYB Zornitza Stark Gene: mt-cyb has been classified as Green List (High Evidence).
Mitochondrial disease v0.370 MT-CYB Zornitza Stark gene: MT-CYB was added
gene: MT-CYB was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-CYB was set to MITOCHONDRIAL
Phenotypes for gene: MT-CYB were set to Leber's optic atrophy; Encephalomyopathy; Cardiomyopathy
Review for gene: MT-CYB was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.369 MT-CO2 Zornitza Stark Tag mtDNA tag was added to gene: MT-CO2.
Mitochondrial disease v0.369 MT-CO2 Zornitza Stark Marked gene: MT-CO2 as ready
Mitochondrial disease v0.369 MT-CO2 Zornitza Stark Gene: mt-co2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.369 MT-CO2 Zornitza Stark Classified gene: MT-CO2 as Green List (high evidence)
Mitochondrial disease v0.369 MT-CO2 Zornitza Stark Gene: mt-co2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.368 MT-CO2 Zornitza Stark gene: MT-CO2 was added
gene: MT-CO2 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-CO2 was set to MITOCHONDRIAL
Phenotypes for gene: MT-CO2 were set to Cytochrome c oxidase deficiency
Review for gene: MT-CO2 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.367 MT-CO1 Zornitza Stark Marked gene: MT-CO1 as ready
Mitochondrial disease v0.367 MT-CO1 Zornitza Stark Gene: mt-co1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.367 MT-CO1 Zornitza Stark Tag mtDNA tag was added to gene: MT-CO1.
Mitochondrial disease v0.367 MT-CO1 Zornitza Stark Classified gene: MT-CO1 as Green List (high evidence)
Mitochondrial disease v0.367 MT-CO1 Zornitza Stark Gene: mt-co1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.366 MT-CO1 Zornitza Stark gene: MT-CO1 was added
gene: MT-CO1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-CO1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-CO1 were set to Leber's optic atrophy; Sideroblastic anaemia; Cytochrome c oxidase deficiency; Myoglobinuria
Review for gene: MT-CO1 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.365 MT-ATP8 Zornitza Stark Marked gene: MT-ATP8 as ready
Mitochondrial disease v0.365 MT-ATP8 Zornitza Stark Gene: mt-atp8 has been classified as Green List (High Evidence).
Mitochondrial disease v0.365 MT-ATP8 Zornitza Stark Classified gene: MT-ATP8 as Green List (high evidence)
Mitochondrial disease v0.365 MT-ATP8 Zornitza Stark Gene: mt-atp8 has been classified as Green List (High Evidence).
Mitochondrial disease v0.364 MT-ATP8 Zornitza Stark gene: MT-ATP8 was added
gene: MT-ATP8 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ATP8 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ATP8 were set to Mitochondrial cardiomyopathy complex V (ATP synthase) deficiency
Review for gene: MT-ATP8 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.363 MT-ATP6 Zornitza Stark Marked gene: MT-ATP6 as ready
Mitochondrial disease v0.363 MT-ATP6 Zornitza Stark Gene: mt-atp6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.363 MT-ATP6 Zornitza Stark Tag mtDNA tag was added to gene: MT-ATP6.
Mitochondrial disease v0.363 MT-ATP6 Zornitza Stark Classified gene: MT-ATP6 as Green List (high evidence)
Mitochondrial disease v0.363 MT-ATP6 Zornitza Stark Gene: mt-atp6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.362 MT-ATP6 Zornitza Stark gene: MT-ATP6 was added
gene: MT-ATP6 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ATP6 were set to Mitochondrial complex V (ATP synthase) deficiency
Review for gene: MT-ATP6 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.360 UQCRB Zornitza Stark Marked gene: UQCRB as ready
Mitochondrial disease v0.360 UQCRB Zornitza Stark Gene: uqcrb has been classified as Green List (High Evidence).
Mitochondrial disease v0.360 UQCRB Zornitza Stark Phenotypes for gene: UQCRB were changed from to Mitochondrial complex III deficiency, nuclear type 3, MIM# 615158
Mitochondrial disease v0.359 UQCRB Zornitza Stark Publications for gene: UQCRB were set to
Mitochondrial disease v0.358 UQCRB Zornitza Stark Mode of inheritance for gene: UQCRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.357 UQCRB Zornitza Stark edited their review of gene: UQCRB: Added comment: Three families, two had the same variant. Functional data.; Changed publications: 23281071, 28275242, 12709789, 25446085, 23454382
Mitochondrial disease v0.357 UQCRB Zornitza Stark reviewed gene: UQCRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23281071, 28275242, 12709789; Phenotypes: Mitochondrial complex III deficiency, nuclear type 3, MIM# 615158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.357 TRAK1 Zornitza Stark Marked gene: TRAK1 as ready
Mitochondrial disease v0.357 TRAK1 Zornitza Stark Gene: trak1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.357 TRAK1 Zornitza Stark Classified gene: TRAK1 as Green List (high evidence)
Mitochondrial disease v0.357 TRAK1 Zornitza Stark Gene: trak1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.356 TRAK1 Zornitza Stark gene: TRAK1 was added
gene: TRAK1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: TRAK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAK1 were set to 28940097; 28364549; 29846532; 28924745
Phenotypes for gene: TRAK1 were set to Epileptic encephalopathy, early infantile, 68, MIM# 618201
Review for gene: TRAK1 was set to GREEN
Added comment: Six unrelated families reported with EE/ID phenotype. PMID 28924745 provides evidence that TRAK1 is a regulator of mitochondrial fusion.
Sources: Expert list
Mitochondrial disease v0.355 SDHB Zornitza Stark changed review comment from: Four unrelated families reported. Note in one family, one sibling was asymptomatic and most of her investigations were normal (borderline abnormality of thalami on MRI brain). Although the variant was postulated to be hypomorphic, this does raise the question of whether it truly segregated with disease.; to: Four unrelated families reported. Note in one family (PMID: 26925370), one sibling was asymptomatic and most of her investigations were normal (borderline abnormality of thalami on MRI brain). Although the variant was postulated to be hypomorphic, this does raise the question of whether it truly segregated with disease.
Mitochondrial disease v0.355 SDHB Zornitza Stark Publications for gene: SDHB were set to 22972948; 26925370
Mitochondrial disease v0.354 SDHB Zornitza Stark Classified gene: SDHB as Green List (high evidence)
Mitochondrial disease v0.354 SDHB Zornitza Stark Gene: sdhb has been classified as Green List (High Evidence).
Mitochondrial disease v0.353 SDHB Zornitza Stark edited their review of gene: SDHB: Changed rating: GREEN
Mitochondrial disease v0.353 SDHB Zornitza Stark changed review comment from: Two unrelated families reported. Note in second family, one sibling was asymptomatic and most of her investigations were normal (borderline abnormality of thalami on MRI brain). Although the variant was postulated to be hypomorphic, this does raise the question of whether it truly segregated with disease.; to: Four unrelated families reported. Note in one family, one sibling was asymptomatic and most of her investigations were normal (borderline abnormality of thalami on MRI brain). Although the variant was postulated to be hypomorphic, this does raise the question of whether it truly segregated with disease.
Mitochondrial disease v0.353 SDHB Zornitza Stark edited their review of gene: SDHB: Changed publications: 22972948, 26925370, 27604842
Mitochondrial disease v0.353 QRSL1 Zornitza Stark Marked gene: QRSL1 as ready
Mitochondrial disease v0.353 QRSL1 Zornitza Stark Gene: qrsl1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.353 QRSL1 Zornitza Stark Phenotypes for gene: QRSL1 were changed from to Combined oxidative phosphorylation deficiency 40
Mitochondrial disease v0.352 QRSL1 Zornitza Stark Publications for gene: QRSL1 were set to
Mitochondrial disease v0.351 QRSL1 Zornitza Stark Mode of inheritance for gene: QRSL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.350 QRSL1 Zornitza Stark reviewed gene: QRSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26741492, 29440775, 30283131, 30642647; Phenotypes: Combined oxidative phosphorylation deficiency 40; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.350 PPCS Zornitza Stark Marked gene: PPCS as ready
Mitochondrial disease v0.350 PPCS Zornitza Stark Gene: ppcs has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.350 PPCS Zornitza Stark Classified gene: PPCS as Amber List (moderate evidence)
Mitochondrial disease v0.350 PPCS Zornitza Stark Gene: ppcs has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.349 PPCS Zornitza Stark gene: PPCS was added
gene: PPCS was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: PPCS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPCS were set to 29754768
Phenotypes for gene: PPCS were set to Cardiomyopathy, dilated, 2C, MIM# 618189
Review for gene: PPCS was set to AMBER
Added comment: Five individuals from two unrelated families reported with missense variants. Functional studies in yeast to demonstrate impact of the variants on protein and cardiac dysfunction observed in Drosophila model.
Sources: Expert list
Mitochondrial disease v0.348 NME3 Zornitza Stark Marked gene: NME3 as ready
Mitochondrial disease v0.348 NME3 Zornitza Stark Gene: nme3 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.348 NME3 Zornitza Stark gene: NME3 was added
gene: NME3 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: NME3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NME3 were set to 30587587
Phenotypes for gene: NME3 were set to Hypotonia; Neurodegeneration; Abnormal mitochondrial dynamics
Review for gene: NME3 was set to RED
Added comment: Single individual reported. NME3 is a mitochondrial outer-membrane protein capable of interacting with MFN1/2, and its depletion causes dysfunction in mitochondrial dynamics.
Sources: Expert list
Mitochondrial disease v0.347 MRPS28 Zornitza Stark Marked gene: MRPS28 as ready
Mitochondrial disease v0.347 MRPS28 Zornitza Stark Gene: mrps28 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.347 MRPS28 Zornitza Stark gene: MRPS28 was added
gene: MRPS28 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: MRPS28 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS28 were set to 30566640
Phenotypes for gene: MRPS28 were set to Intrauterine growth retardation; developmental delay; dysmorphism
Review for gene: MRPS28 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Mitochondrial disease v0.346 MRPS25 Zornitza Stark Marked gene: MRPS25 as ready
Mitochondrial disease v0.346 MRPS25 Zornitza Stark Gene: mrps25 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.346 MRPS25 Zornitza Stark gene: MRPS25 was added
gene: MRPS25 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: MRPS25 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS25 were set to 31039582
Phenotypes for gene: MRPS25 were set to Dyskinetic cerebral palsy; Mitochondrial myopathy; Partial agenesis of the corpus callosum
Review for gene: MRPS25 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Mitochondrial disease v0.345 MRPS23 Zornitza Stark Phenotypes for gene: MRPS23 were changed from Hepatic disease; Combined respiratory chain complex deficiencies to Hepatic disease; Combined respiratory chain complex deficiencies; Cardiomyopathy; Tubulopathy; Lactic acidosis; Structural brain abnormalities
Mitochondrial disease v0.344 MRPS23 Zornitza Stark Publications for gene: MRPS23 were set to 26741492
Mitochondrial disease v0.343 MRPS23 Zornitza Stark Classified gene: MRPS23 as Green List (high evidence)
Mitochondrial disease v0.343 MRPS23 Zornitza Stark Gene: mrps23 has been classified as Green List (High Evidence).
Mitochondrial disease v0.342 MRPS23 Zornitza Stark edited their review of gene: MRPS23: Changed rating: GREEN
Mitochondrial disease v0.342 MRPS23 Zornitza Stark changed review comment from: Single family reported.; to: Four families reported.
Mitochondrial disease v0.342 MRPS23 Zornitza Stark edited their review of gene: MRPS23: Changed publications: 26741492, 17873122, 25663021, 28752220; Changed phenotypes: Hepatic disease, Combined respiratory chain complex deficiencies, Cardiomyopathy, Tubulopathy, Lactic acidosis, Structural brain abnormalities
Mitochondrial disease v0.342 MRPS22 Zornitza Stark Marked gene: MRPS22 as ready
Mitochondrial disease v0.342 MRPS22 Zornitza Stark Gene: mrps22 has been classified as Green List (High Evidence).
Mitochondrial disease v0.342 MRPS22 Zornitza Stark Phenotypes for gene: MRPS22 were changed from to Combined oxidative phosphorylation deficiency 5, MIM# 611719
Mitochondrial disease v0.341 MRPS22 Zornitza Stark Publications for gene: MRPS22 were set to
Mitochondrial disease v0.340 MRPS22 Zornitza Stark Mode of inheritance for gene: MRPS22 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.339 MRPS22 Zornitza Stark reviewed gene: MRPS22: Rating: GREEN; Mode of pathogenicity: None; Publications: 17873122, 25663021, 28752220; Phenotypes: Combined oxidative phosphorylation deficiency 5, MIM# 611719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.339 MRPS2 Zornitza Stark Marked gene: MRPS2 as ready
Mitochondrial disease v0.339 MRPS2 Zornitza Stark Gene: mrps2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.339 MRPS2 Zornitza Stark Phenotypes for gene: MRPS2 were changed from to Combined oxidative phosphorylation deficiency 36, MIM# 617950
Mitochondrial disease v0.338 MRPS2 Zornitza Stark Publications for gene: MRPS2 were set to
Mitochondrial disease v0.337 MRPS2 Zornitza Stark Mode of inheritance for gene: MRPS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.336 MRPS2 Zornitza Stark reviewed gene: MRPS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29576219; Phenotypes: Combined oxidative phosphorylation deficiency 36, MIM# 617950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.336 MIEF2 Zornitza Stark Marked gene: MIEF2 as ready
Mitochondrial disease v0.336 MIEF2 Zornitza Stark Gene: mief2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.336 MIEF2 Zornitza Stark gene: MIEF2 was added
gene: MIEF2 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: MIEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MIEF2 were set to 29361167
Phenotypes for gene: MIEF2 were set to Progressive muscle weakness; Exercise intolerance; Ragged red and COX negative fibres; Complex I and IV deficiency
Review for gene: MIEF2 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Mitochondrial disease v0.335 EXOSC3 Zornitza Stark Marked gene: EXOSC3 as ready
Mitochondrial disease v0.335 EXOSC3 Zornitza Stark Gene: exosc3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.335 EXOSC3 Zornitza Stark Classified gene: EXOSC3 as Amber List (moderate evidence)
Mitochondrial disease v0.335 EXOSC3 Zornitza Stark Gene: exosc3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.334 EXOSC3 Zornitza Stark gene: EXOSC3 was added
gene: EXOSC3 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC3 were set to 28687512
Phenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1B 614678; Intellectual disability; Microcephaly; Hypotonia; Mitochondrial dysfunction
Review for gene: EXOSC3 was set to AMBER
Added comment: Gene-disease association with PCH is well established; one individual reported with mitochondrial dysfunction, postulated to be due to reduced degradation by a dysfunctional exosome complex.
Sources: Expert list
Mitochondrial disease v0.333 ERAL1 Zornitza Stark Marked gene: ERAL1 as ready
Mitochondrial disease v0.333 ERAL1 Zornitza Stark Gene: eral1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.333 ERAL1 Zornitza Stark Classified gene: ERAL1 as Amber List (moderate evidence)
Mitochondrial disease v0.333 ERAL1 Zornitza Stark Gene: eral1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.332 ERAL1 Zornitza Stark gene: ERAL1 was added
gene: ERAL1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: ERAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERAL1 were set to 28449065
Phenotypes for gene: ERAL1 were set to Perrault syndrome 6, MIM# 617565
Review for gene: ERAL1 was set to AMBER
Added comment: Three individuals from same small geographical location with homozygous missense variant in this gene, functional data.
Sources: Expert list
Mitochondrial disease v0.331 COX4I1 Zornitza Stark reviewed gene: COX4I1: Rating: RED; Mode of pathogenicity: None; Publications: 28766551, 22592081; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.331 CHKB Zornitza Stark Marked gene: CHKB as ready
Mitochondrial disease v0.331 CHKB Zornitza Stark Gene: chkb has been classified as Green List (High Evidence).
Mitochondrial disease v0.331 CHKB Zornitza Stark Classified gene: CHKB as Green List (high evidence)
Mitochondrial disease v0.331 CHKB Zornitza Stark Gene: chkb has been classified as Green List (High Evidence).
Mitochondrial disease v0.330 CHKB Zornitza Stark gene: CHKB was added
gene: CHKB was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHKB were set to 21665002; 23692895; 24997086
Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type, MIM# 602541; Intellectual disability; Abnormal mitochondria
Review for gene: CHKB was set to GREEN
Added comment: Congenital muscular dystrophy characterized by early-onset muscle wasting, intellectual disability, and enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center on muscle biopsy.
Sources: Expert list
Mitochondrial disease v0.329 C1QBP Zornitza Stark Marked gene: C1QBP as ready
Mitochondrial disease v0.329 C1QBP Zornitza Stark Gene: c1qbp has been classified as Green List (High Evidence).
Mitochondrial disease v0.329 C1QBP Zornitza Stark Phenotypes for gene: C1QBP were changed from to Combined oxidative phosphorylation deficiency 33, MIM# 617713
Mitochondrial disease v0.328 C1QBP Zornitza Stark Publications for gene: C1QBP were set to
Mitochondrial disease v0.327 C1QBP Zornitza Stark Mode of inheritance for gene: C1QBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.326 C1QBP Zornitza Stark reviewed gene: C1QBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 28942965; Phenotypes: Combined oxidative phosphorylation deficiency 33, MIM# 617713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.326 NDUFS4 Zornitza Stark Marked gene: NDUFS4 as ready
Mitochondrial disease v0.326 NDUFS4 Zornitza Stark Gene: ndufs4 has been classified as Green List (High Evidence).
Mitochondrial disease v0.326 NDUFS4 Zornitza Stark Phenotypes for gene: NDUFS4 were changed from Mitochondrial complex I deficiency, nuclear type 1, 252010; Leigh syndrome to Mitochondrial complex I deficiency, nuclear type 1, 252010; Leigh syndrome, MIM#252010
Mitochondrial disease v0.325 NDUFS4 Zornitza Stark Phenotypes for gene: NDUFS4 were changed from to Mitochondrial complex I deficiency, nuclear type 1, 252010; Leigh syndrome
Mitochondrial disease v0.324 NDUFS4 Zornitza Stark Publications for gene: NDUFS4 were set to
Mitochondrial disease v0.323 NDUFS4 Zornitza Stark Mode of inheritance for gene: NDUFS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.322 NDUFS4 Kristin Rigbye reviewed gene: NDUFS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10944442, 27079373, 19107570, 12616398; Phenotypes: Mitochondrial complex I deficiency, nuclear type 1, 252010, Leigh syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.322 CHCHD2 Bryony Thompson Classified gene: CHCHD2 as Green List (high evidence)
Mitochondrial disease v0.322 CHCHD2 Bryony Thompson Gene: chchd2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.321 CHCHD2 Bryony Thompson gene: CHCHD2 was added
gene: CHCHD2 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: CHCHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHCHD2 were set to 32068847; 25662902; 31600778
Phenotypes for gene: CHCHD2 were set to Parkinson disease 22, autosomal dominant MIM#616710
Review for gene: CHCHD2 was set to GREEN
Added comment: Five families with heterozygous variants, segregation evidence for T61I in multiple families. Supporting functional evidence suggesting mitochondrial dysfunction through the genes role in mitochondrial respiratory function.
Sources: Literature
Mitochondrial disease v0.319 XPNPEP3 Zornitza Stark Classified gene: XPNPEP3 as Red List (low evidence)
Mitochondrial disease v0.319 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.318 XPNPEP3 Zornitza Stark reviewed gene: XPNPEP3: Rating: RED; Mode of pathogenicity: None; Publications: 20179356; Phenotypes: Nephronophthisis-like nephropathy 1, MIM#613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.318 QARS Zornitza Stark Marked gene: QARS as ready
Mitochondrial disease v0.318 QARS Zornitza Stark Gene: qars has been classified as Green List (High Evidence).
Mitochondrial disease v0.318 QARS Zornitza Stark Classified gene: QARS as Green List (high evidence)
Mitochondrial disease v0.318 QARS Zornitza Stark Gene: qars has been classified as Green List (High Evidence).
Mitochondrial disease v0.317 QARS Zornitza Stark gene: QARS was added
gene: QARS was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: QARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: QARS were set to 28620870; 25471517; 25432320; 25041233; 24656866; 32042906
Phenotypes for gene: QARS were set to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760
Review for gene: QARS was set to GREEN
Added comment: Encodes t-RNA synthetase, over 20 individuals reported, include in mito panel in line with other t-RNA synthetases.
Sources: NHS GMS
Mitochondrial disease v0.316 PNPLA4 Zornitza Stark Publications for gene: PNPLA4 were set to
Mitochondrial disease v0.315 PNPLA4 Zornitza Stark Mode of inheritance for gene: PNPLA4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mitochondrial disease v0.314 PNPLA4 Zornitza Stark Classified gene: PNPLA4 as Red List (low evidence)
Mitochondrial disease v0.314 PNPLA4 Zornitza Stark Gene: pnpla4 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.313 PNPLA4 Zornitza Stark edited their review of gene: PNPLA4: Changed rating: RED
Mitochondrial disease v0.313 CISD2 Bryony Thompson gene: CISD2 was added
gene: CISD2 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CISD2 were set to 29237418; 28335035; 27459537; 26230298; 17846994
Phenotypes for gene: CISD2 were set to Wolfram syndrome 2 MIM#604928
Review for gene: CISD2 was set to GREEN
Added comment: At least 3 families and a mouse model. Culture of patient-derived fibroblasts in glucose-free galactose medium revealed a respiratory chain defect in complexes I and II, and a trend towards decreased ATP levels.
Sources: NHS GMS
Mitochondrial disease v0.312 COX4I1 Bryony Thompson gene: COX4I1 was added
gene: COX4I1 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: COX4I1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX4I1 were set to 28766551
Phenotypes for gene: COX4I1 were set to short stature; mild dysmorphic features; Fanconi anemia
Review for gene: COX4I1 was set to RED
Added comment: Single family with a homozygous variant, with assays in patient fibroblasts only.
Sources: NHS GMS
Mitochondrial disease v0.311 NNT Zornitza Stark Marked gene: NNT as ready
Mitochondrial disease v0.311 NNT Zornitza Stark Gene: nnt has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.311 NNT Zornitza Stark Classified gene: NNT as Amber List (moderate evidence)
Mitochondrial disease v0.311 NNT Zornitza Stark Gene: nnt has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.310 NNT Zornitza Stark reviewed gene: NNT: Rating: AMBER; Mode of pathogenicity: None; Publications: 25778941; Phenotypes: Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency MIM#614736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.310 COX5A Bryony Thompson gene: COX5A was added
gene: COX5A was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: COX5A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX5A were set to 28247525
Phenotypes for gene: COX5A were set to pulmonary arterial hypertension; lactic acidemia; failure to thrive; isolated complex IV deficiency
Review for gene: COX5A was set to RED
Added comment: Single family with a homozygous variant, with assays conducted in patient fibroblasts only.
Sources: NHS GMS
Mitochondrial disease v0.309 KIF5A Bryony Thompson gene: KIF5A was added
gene: KIF5A was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF5A were set to 27463701; 27414745
Phenotypes for gene: KIF5A were set to Myoclonus, intractable, neonatal MIM#617235
Mode of pathogenicity for gene: KIF5A was set to Other
Review for gene: KIF5A was set to AMBER
Added comment: Three unrelated cases with de novo heterozygous predicted stop-loss variants with read-through of the normal termination codon to create an elongated protein and predicted to be dominant-negative. One of the cases was diagnosed with complex IV deficiency based on a high suspicion of mitochondrial disease given the clinical presentation and borderline findings on electron transport chain studies. There is no evidence that heterozygous variants associated with spastic paraplegia are linked to mitochondrial dysfunction.
Sources: NHS GMS
Mitochondrial disease v0.308 MICU2 Bryony Thompson Marked gene: MICU2 as ready
Mitochondrial disease v0.308 MICU2 Bryony Thompson Gene: micu2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.308 MICU2 Bryony Thompson gene: MICU2 was added
gene: MICU2 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: MICU2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MICU2 were set to 29053821
Phenotypes for gene: MICU2 were set to cognitive impairment; spasticity; white matter involvement
Review for gene: MICU2 was set to RED
Added comment: Single multiplex consanguineous family segregating a homozygous truncating variant. Abnormal mitochondrial calcium homeostasis in patient cells.
Sources: NHS GMS
Mitochondrial disease v0.307 NAXD Bryony Thompson Marked gene: NAXD as ready
Mitochondrial disease v0.307 NAXD Bryony Thompson Gene: naxd has been classified as Green List (High Evidence).
Mitochondrial disease v0.307 NAXD Bryony Thompson Classified gene: NAXD as Green List (high evidence)
Mitochondrial disease v0.307 NAXD Bryony Thompson Gene: naxd has been classified as Green List (High Evidence).
Mitochondrial disease v0.306 NAXD Bryony Thompson gene: NAXD was added
gene: NAXD was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: NAXD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAXD were set to 30576410
Phenotypes for gene: NAXD were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321
Review for gene: NAXD was set to GREEN
Added comment: Six unrelated cases. Patient cells and muscle biopsies also showed impaired mitochondrial function, higher sensitivity to metabolic stress, and decreased mitochondrial reactive oxygen species production. In vitro functional assays also conducted.
Sources: NHS GMS
Mitochondrial disease v0.305 NDUFAF7 Bryony Thompson Marked gene: NDUFAF7 as ready
Mitochondrial disease v0.305 NDUFAF7 Bryony Thompson Gene: ndufaf7 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.305 NDUFAF7 Bryony Thompson gene: NDUFAF7 was added
gene: NDUFAF7 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: NDUFAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NDUFAF7 were set to 28837730
Phenotypes for gene: NDUFAF7 were set to Pathologic myopia
Review for gene: NDUFAF7 was set to RED
Added comment: Single family with heterozygous variant. In vitro functional assays conducted are not compelling evidence.
Sources: NHS GMS
Mitochondrial disease v0.304 NDUFB10 Bryony Thompson Marked gene: NDUFB10 as ready
Mitochondrial disease v0.304 NDUFB10 Bryony Thompson Gene: ndufb10 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.304 NDUFB10 Bryony Thompson Classified gene: NDUFB10 as Amber List (moderate evidence)
Mitochondrial disease v0.304 NDUFB10 Bryony Thompson Gene: ndufb10 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.303 NDUFB10 Bryony Thompson gene: NDUFB10 was added
gene: NDUFB10 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: NDUFB10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB10 were set to 28040730; 32025618
Phenotypes for gene: NDUFB10 were set to fatal infantile lactic acidosis; cardiomyopathy
Review for gene: NDUFB10 was set to AMBER
Added comment: Single compound heterozygote case and assays of respiratory chain enzyme activities and functions in patient tissues/fibroblasts and in vitro functional assays. Plant model system supporting mitochondrial complex I dysfunction. No omim phenotype.
Sources: NHS GMS
Mitochondrial disease v0.302 NNT Bryony Thompson Classified gene: NNT as Green List (high evidence)
Mitochondrial disease v0.302 NNT Bryony Thompson Gene: nnt has been classified as Green List (High Evidence).
Mitochondrial disease v0.301 NNT Bryony Thompson gene: NNT was added
gene: NNT was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NNT were set to 26309815; 22634753
Phenotypes for gene: NNT were set to Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency MIM#614736
Review for gene: NNT was set to GREEN
Added comment: >3 cases reported and a mouse model. A protein of the inner mitochondrial membrane with a key role in mitochondrial redox balance.
Sources: NHS GMS
Mitochondrial disease v0.300 NSUN3 Bryony Thompson Classified gene: NSUN3 as Amber List (moderate evidence)
Mitochondrial disease v0.300 NSUN3 Bryony Thompson Gene: nsun3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.299 NSUN3 Bryony Thompson gene: NSUN3 was added
gene: NSUN3 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: NSUN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSUN3 were set to 27356879
Phenotypes for gene: NSUN3 were set to combined mitochondrial respiratory chain complex deficiency
Review for gene: NSUN3 was set to AMBER
Added comment: A single compound heterozygous case. Patient-derived fibroblasts exhibited severe defects in mitochondrial translation that can be rescued by exogenous expression of NSun3. In vitro functional assays also conducted.
Sources: NHS GMS
Mitochondrial disease v0.298 OXA1L Bryony Thompson Classified gene: OXA1L as Amber List (moderate evidence)
Mitochondrial disease v0.298 OXA1L Bryony Thompson Gene: oxa1l has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.297 OXA1L Bryony Thompson changed review comment from: Single family reported with biochemical and molecular analyses of patient skeletal muscle and fibroblasts. In vitro functional assays in human cell lines and a Drosophila model. Loss of function affects oxidative phosphorylation complexes IV and V.
Sources: NHS GMS; to: Single family reported with biochemical and molecular analyses of patient skeletal muscle and fibroblasts. In vitro functional assays in human cell lines, Drosophila model, and yeast-based assays. Loss of function affects oxidative phosphorylation complexes IV and V.
Sources: NHS GMS
Mitochondrial disease v0.297 OXA1L Bryony Thompson edited their review of gene: OXA1L: Changed publications: 30201738, 16435202
Mitochondrial disease v0.297 OXA1L Bryony Thompson gene: OXA1L was added
gene: OXA1L was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: OXA1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXA1L were set to 30201738
Phenotypes for gene: OXA1L were set to encephalopathy; hypotonia; developmental delay
Review for gene: OXA1L was set to AMBER
Added comment: Single family reported with biochemical and molecular analyses of patient skeletal muscle and fibroblasts. In vitro functional assays in human cell lines and a Drosophila model. Loss of function affects oxidative phosphorylation complexes IV and V.
Sources: NHS GMS
Mitochondrial disease v0.296 PET117 Bryony Thompson gene: PET117 was added
gene: PET117 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: PET117 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PET117 were set to 28386624
Phenotypes for gene: PET117 were set to Developmental delay
Review for gene: PET117 was set to RED
Added comment: Two siblings with deficiency of complex IV of the respiratory chain and a homozygous variant. Only functional assays conducted were complementation assays in patient fibroblasts.
Sources: NHS GMS
Mitochondrial disease v0.295 PITRM1 Bryony Thompson Classified gene: PITRM1 as Green List (high evidence)
Mitochondrial disease v0.295 PITRM1 Bryony Thompson Gene: pitrm1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.294 PITRM1 Bryony Thompson edited their review of gene: PITRM1: Changed rating: GREEN
Mitochondrial disease v0.294 PITRM1 Bryony Thompson gene: PITRM1 was added
gene: PITRM1 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: PITRM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PITRM1 were set to 26697887; 29764912
Phenotypes for gene: PITRM1 were set to Cerebellar atrophy; mental retardation; spinocerebellar ataxia; cognitive decline; psychosis
Added comment: Three families with two unique variants. Mitochondrial dysfunction identified in in vitro functional assays and mouse model. No OMIM phenotype.
Sources: NHS GMS
Mitochondrial disease v0.293 PLA2G6 Bryony Thompson Marked gene: PLA2G6 as ready
Mitochondrial disease v0.293 PLA2G6 Bryony Thompson Gene: pla2g6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.293 PLA2G6 Bryony Thompson Classified gene: PLA2G6 as Green List (high evidence)
Mitochondrial disease v0.293 PLA2G6 Bryony Thompson Gene: pla2g6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.292 PLA2G6 Bryony Thompson gene: PLA2G6 was added
gene: PLA2G6 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLA2G6 were set to 25348461; 26001724; 26506412; 30528460; 16783378
Phenotypes for gene: PLA2G6 were set to Infantile neuroaxonal dystrophy 1 MIM#256600; Neurodegeneration with brain iron accumulation 2B MIM#610217; Parkinson disease 14, autosomal recessive MIM#612953
Review for gene: PLA2G6 was set to GREEN
Added comment: Findings in a Drosophila/mouse models and patient fibroblasts demonstrated that loss of normal PLA2G6 gene activity leads to lipid peroxidation, mitochondrial dysfunction and subsequent mitochondrial membrane abnormalities. >3 cases reported.
Sources: NHS GMS
Mitochondrial disease v0.291 PTCD1 Bryony Thompson changed review comment from: Single case reported with no functional characterisation. Biochemical analyses of heart tissue identified global COX defect.
Sources: NHS GMS; to: Single case reported with no functional characterisation. Biochemical analyses of heart tissue identified global COX defect. No OMIM phenotype.
Sources: NHS GMS
Mitochondrial disease v0.291 PTCD1 Bryony Thompson gene: PTCD1 was added
gene: PTCD1 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: PTCD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTCD1 were set to 25058219
Phenotypes for gene: PTCD1 were set to Cardiomyopathy
Review for gene: PTCD1 was set to RED
Added comment: Single case reported with no functional characterisation. Biochemical analyses of heart tissue identified global COX defect.
Sources: NHS GMS
Mitochondrial disease v0.290 PTCD3 Bryony Thompson Classified gene: PTCD3 as Amber List (moderate evidence)
Mitochondrial disease v0.290 PTCD3 Bryony Thompson Gene: ptcd3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.289 PTCD3 Bryony Thompson gene: PTCD3 was added
gene: PTCD3 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: PTCD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTCD3 were set to 30607703; 19427859
Phenotypes for gene: PTCD3 were set to Mental retardation; optic atrophy; Leigh-like syndrome
Review for gene: PTCD3 was set to AMBER
Added comment: One compound heterozygote case and functional assays. Essential subunit of oxidative phosphorylation (OXPHOS) complexes.
Sources: NHS GMS
Mitochondrial disease v0.288 D2HGDH Bryony Thompson Marked gene: D2HGDH as ready
Mitochondrial disease v0.288 D2HGDH Bryony Thompson Gene: d2hgdh has been classified as Green List (High Evidence).
Mitochondrial disease v0.288 D2HGDH Bryony Thompson Classified gene: D2HGDH as Green List (high evidence)
Mitochondrial disease v0.288 D2HGDH Bryony Thompson Gene: d2hgdh has been classified as Green List (High Evidence).
Mitochondrial disease v0.287 D2HGDH Bryony Thompson gene: D2HGDH was added
gene: D2HGDH was added to Mitochondrial disease. Sources: Literature,NHS GMS
Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: D2HGDH were set to 25778941; 31349060; 15609246; 20020533
Phenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria MIM#600721
Review for gene: D2HGDH was set to GREEN
Added comment: Enzyme catalyses oxidation of D-2HG, which is coupled to the mitochondrial electron transport chain. >3 cases reported.
Sources: Literature, NHS GMS
Mitochondrial disease v0.286 IDH2 Bryony Thompson Marked gene: IDH2 as ready
Mitochondrial disease v0.286 IDH2 Bryony Thompson Gene: idh2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.286 IDH2 Bryony Thompson Classified gene: IDH2 as Green List (high evidence)
Mitochondrial disease v0.286 IDH2 Bryony Thompson Gene: idh2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.285 IDH2 Bryony Thompson gene: IDH2 was added
gene: IDH2 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: IDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IDH2 were set to 25778941; 27142242; 20847235; 24049096
Phenotypes for gene: IDH2 were set to D-2-hydroxyglutaric aciduria 2 MIM#613657
Review for gene: IDH2 was set to GREEN
Added comment: Loss of IDH2 induces mitochondrial dysfunction in a mouse model. 17 cases with a de novo or inherited from a mosaic carrier (R140G, R140Q) have been reported.
Sources: Literature
Mitochondrial disease v0.284 PANK2 Bryony Thompson Marked gene: PANK2 as ready
Mitochondrial disease v0.284 PANK2 Bryony Thompson Gene: pank2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.284 PANK2 Bryony Thompson Classified gene: PANK2 as Green List (high evidence)
Mitochondrial disease v0.284 PANK2 Bryony Thompson Gene: pank2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.283 PANK2 Bryony Thompson gene: PANK2 was added
gene: PANK2 was added to Mitochondrial disease. Sources: Literature,NHS GMS
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PANK2 were set to 25778941; 11479594; 12510040; 28863176
Phenotypes for gene: PANK2 were set to HARP syndrome MIM#607236; Neurodegeneration with brain iron accumulation 1 MIM#234200
Review for gene: PANK2 was set to GREEN
Added comment: A mitochondrial enzyme, which phosphorylates vitamin B5 in the first reaction of the CoA biosynthetic pathway (a relevant mitochondrial cofactor). >3 cases reported.
Sources: Literature, NHS GMS
Mitochondrial disease v0.282 COASY Bryony Thompson Marked gene: COASY as ready
Mitochondrial disease v0.282 COASY Bryony Thompson Gene: coasy has been classified as Green List (High Evidence).
Mitochondrial disease v0.282 COASY Bryony Thompson Classified gene: COASY as Green List (high evidence)
Mitochondrial disease v0.282 COASY Bryony Thompson Gene: coasy has been classified as Green List (High Evidence).
Mitochondrial disease v0.281 COASY Bryony Thompson gene: COASY was added
gene: COASY was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COASY were set to 25778941; 24360804; 30089828; 28489334
Phenotypes for gene: COASY were set to Neurodegeneration with brain iron accumulation 6 MIM#615643; Pontocerebellar hypoplasia, type 12 MIM#618266
Review for gene: COASY was set to GREEN
Added comment: A bi-functional mitochondrial enzyme, which catalyzes the final steps of CoA biosynthesis, a relevant mitochondrial cofactor. >3 cases reported.
Sources: NHS GMS, Literature
Mitochondrial disease v0.280 PPOX Bryony Thompson Marked gene: PPOX as ready
Mitochondrial disease v0.280 PPOX Bryony Thompson Gene: ppox has been classified as Green List (High Evidence).
Mitochondrial disease v0.280 PPOX Bryony Thompson Classified gene: PPOX as Green List (high evidence)
Mitochondrial disease v0.280 PPOX Bryony Thompson Gene: ppox has been classified as Green List (High Evidence).
Mitochondrial disease v0.279 PPOX Bryony Thompson gene: PPOX was added
gene: PPOX was added to Mitochondrial disease. Sources: Literature,NHS GMS
Mode of inheritance for gene: PPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PPOX were set to 25778941; 9811936; 12859407; 30476629
Phenotypes for gene: PPOX were set to Porphyria variegata MIM#176200
Review for gene: PPOX was set to GREEN
Added comment: Variegate porphyria is a disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane. A defect in a relevant mitochondrial cofactor. >3 cases reported.
Sources: Literature, NHS GMS
Mitochondrial disease v0.278 HADHB Bryony Thompson Marked gene: HADHB as ready
Mitochondrial disease v0.278 HADHB Bryony Thompson Gene: hadhb has been classified as Green List (High Evidence).
Mitochondrial disease v0.278 HADHB Bryony Thompson Classified gene: HADHB as Green List (high evidence)
Mitochondrial disease v0.278 HADHB Bryony Thompson Gene: hadhb has been classified as Green List (High Evidence).
Mitochondrial disease v0.277 HADHB Bryony Thompson gene: HADHB was added
gene: HADHB was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADHB were set to 25778941; 30682426; 9259266; 29956646
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency MIM#609015
Review for gene: HADHB was set to GREEN
Added comment: The heterooctameric mitochondrial trifunctional protein (MTP), composed of four α- and β-subunits harbours three enzymes that each perform a different function in mitochondrial fatty acid β-oxidation. MTP deficiency is a defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: NHS GMS, Literature
Mitochondrial disease v0.276 HADHA Bryony Thompson Marked gene: HADHA as ready
Mitochondrial disease v0.276 HADHA Bryony Thompson Gene: hadha has been classified as Green List (High Evidence).
Mitochondrial disease v0.276 HADHA Bryony Thompson Classified gene: HADHA as Green List (high evidence)
Mitochondrial disease v0.276 HADHA Bryony Thompson Gene: hadha has been classified as Green List (High Evidence).
Mitochondrial disease v0.275 HADHA Bryony Thompson gene: HADHA was added
gene: HADHA was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADHA were set to 25778941; 7811722; 29459657
Phenotypes for gene: HADHA were set to LCHAD deficiency MIM#609016; Trifunctional protein deficiency MIM#609015
Review for gene: HADHA was set to GREEN
Added comment: Long-Chain-3-Hydroxy-Acyl-CoA-Dehydrogenase-Deficiency (LCHADD) is an inherited disorder affecting mitochondrial fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported. Also affects mitochondrial morphology.
Sources: NHS GMS, Literature
Mitochondrial disease v0.274 NDUFA4 Zornitza Stark Classified gene: NDUFA4 as Green List (high evidence)
Mitochondrial disease v0.274 NDUFA4 Zornitza Stark Gene: ndufa4 has been classified as Green List (High Evidence).
Mitochondrial disease v0.273 NDUFA4 Zornitza Stark changed review comment from: Single family and a lot of functional data. Encodes a complex IV subunit.; to: Single family and a lot of functional data. Unpublished data on another family. Encodes a complex IV subunit.
Mitochondrial disease v0.273 NDUFA4 Zornitza Stark edited their review of gene: NDUFA4: Changed rating: GREEN
Mitochondrial disease v0.273 MRPS14 Zornitza Stark Classified gene: MRPS14 as Amber List (moderate evidence)
Mitochondrial disease v0.273 MRPS14 Zornitza Stark Gene: mrps14 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.272 MRPS14 Zornitza Stark edited their review of gene: MRPS14: Changed rating: AMBER; Changed phenotypes: Combined oxidative phosphorylation deficiency 38, MIM# 618378
Mitochondrial disease v0.272 HADH Bryony Thompson Marked gene: HADH as ready
Mitochondrial disease v0.272 HADH Bryony Thompson Gene: hadh has been classified as Green List (High Evidence).
Mitochondrial disease v0.272 HADH Bryony Thompson Classified gene: HADH as Green List (high evidence)
Mitochondrial disease v0.272 HADH Bryony Thompson Gene: hadh has been classified as Green List (High Evidence).
Mitochondrial disease v0.271 HADH Bryony Thompson Classified gene: HADH as Amber List (moderate evidence)
Mitochondrial disease v0.271 HADH Bryony Thompson Gene: hadh has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.270 HADH Bryony Thompson gene: HADH was added
gene: HADH was added to Mitochondrial disease. Sources: Literature,NHS GMS
Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADH were set to 25778941; 23430856; 27771675; 11489939
Phenotypes for gene: HADH were set to 3-hydroxyacyl-CoA dehydrogenase deficiency MIM#231530
Review for gene: HADH was set to GREEN
Added comment: Short-chain-L-3-hydroxyacyl-CoA dehydrogenase deficiency is an inherited disorder affecting mitochondrial fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: Literature, NHS GMS
Mitochondrial disease v0.269 CPT2 Bryony Thompson Mode of inheritance for gene: CPT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.268 CPT2 Bryony Thompson edited their review of gene: CPT2: Changed phenotypes: CPT II deficiency, infantile MIM#600649, CPT II deficiency, lethal neonatal MIM#608836, CPT II deficiency, myopathic, stress-induced MIM#255110; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.268 CPT2 Bryony Thompson Marked gene: CPT2 as ready
Mitochondrial disease v0.268 CPT2 Bryony Thompson Gene: cpt2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.268 CPT2 Bryony Thompson Classified gene: CPT2 as Green List (high evidence)
Mitochondrial disease v0.268 CPT2 Bryony Thompson Gene: cpt2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.267 CPT2 Bryony Thompson gene: CPT2 was added
gene: CPT2 was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPT2 were set to 25778941; 12673791; 30957255
Phenotypes for gene: CPT2 were set to CPT II deficiency, infantile MIM#600649; CPT II deficiency, lethal neonatal MIM#608836; CPT II deficiency, myopathic, stress-induced MIM#255110
Review for gene: CPT2 was set to GREEN
Added comment: Carnitine palmitoyltransferase II (CPT2) is a rare autosomal recessive inherited disorder affecting mitochondrial fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: NHS GMS, Literature
Mitochondrial disease v0.266 CPT1A Bryony Thompson Marked gene: CPT1A as ready
Mitochondrial disease v0.266 CPT1A Bryony Thompson Gene: cpt1a has been classified as Green List (High Evidence).
Mitochondrial disease v0.266 CPT1A Bryony Thompson Classified gene: CPT1A as Green List (high evidence)
Mitochondrial disease v0.266 CPT1A Bryony Thompson Gene: cpt1a has been classified as Green List (High Evidence).
Mitochondrial disease v0.265 CPT1A Bryony Thompson gene: CPT1A was added
gene: CPT1A was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPT1A were set to 25778941; 12189492; 23430932
Phenotypes for gene: CPT1A were set to CPT deficiency, hepatic, type IA MIM#255120
Review for gene: CPT1A was set to GREEN
Added comment: Hepatic carnitine palmitoyltransferase (CPT) deficiency type 1A is a disorder of mitochondrial fatty acid oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: NHS GMS, Literature
Mitochondrial disease v0.264 ACADVL Bryony Thompson Marked gene: ACADVL as ready
Mitochondrial disease v0.264 ACADVL Bryony Thompson Gene: acadvl has been classified as Green List (High Evidence).
Mitochondrial disease v0.264 ACADVL Bryony Thompson Classified gene: ACADVL as Green List (high evidence)
Mitochondrial disease v0.264 ACADVL Bryony Thompson Gene: acadvl has been classified as Green List (High Evidence).
Mitochondrial disease v0.263 ACADVL Bryony Thompson gene: ACADVL was added
gene: ACADVL was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADVL were set to 25778941; 8845838; 29459657
Phenotypes for gene: ACADVL were set to VLCAD deficiency MIM#201475
Review for gene: ACADVL was set to GREEN
Added comment: Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a mitochondrial fatty acid oxidation disorder. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: NHS GMS, Literature
Mitochondrial disease v0.262 MRPL3 Zornitza Stark Classified gene: MRPL3 as Green List (high evidence)
Mitochondrial disease v0.262 MRPL3 Zornitza Stark Gene: mrpl3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.261 MRPL3 Zornitza Stark edited their review of gene: MRPL3: Changed rating: GREEN
Mitochondrial disease v0.261 MRPL3 Zornitza Stark changed review comment from: 1 French family with 4 sibs with severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, no functional studies. 1 male infant with a severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, no functional studies.; to: 1 French family with 4 sibs with severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, some functional studies. 1 male infant with a severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, no functional studies.
Mitochondrial disease v0.261 MRM2 Zornitza Stark Marked gene: MRM2 as ready
Mitochondrial disease v0.261 MRM2 Zornitza Stark Gene: mrm2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.261 MRM2 Zornitza Stark Classified gene: MRM2 as Amber List (moderate evidence)
Mitochondrial disease v0.261 MRM2 Zornitza Stark Gene: mrm2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.260 MRM2 Zornitza Stark gene: MRM2 was added
gene: MRM2 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: MRM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRM2 were set to 28973171
Phenotypes for gene: MRM2 were set to MELAS-like
Review for gene: MRM2 was set to AMBER
Added comment: Single individual reported plus functional data. MRM2 encodes an enzyme responsible for 2'-O-methyl modification at position U1369 in the human mitochondrial 16S rRNA.
Sources: NHS GMS
Mitochondrial disease v0.259 ACADSB Bryony Thompson Classified gene: ACADSB as Green List (high evidence)
Mitochondrial disease v0.259 ACADSB Bryony Thompson Gene: acadsb has been classified as Green List (High Evidence).
Mitochondrial disease v0.258 ACADSB Bryony Thompson gene: ACADSB was added
gene: ACADSB was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADSB were set to 25778941; 17945527
Phenotypes for gene: ACADSB were set to 2-methylbutyrylglycinuria MIM#610006
Review for gene: ACADSB was set to GREEN
Added comment: 2-Methylbutyryl-CoA dehydrogenase (MBD) deficiency is an autosomal recessive metabolic disorder of impaired isoleucine degradation, a mitochondrial disorder of fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported. Cases are usually asymptomatic, but can have neurological symptoms.
Sources: NHS GMS, Literature
Mitochondrial disease v0.257 ACADS Bryony Thompson Marked gene: ACADS as ready
Mitochondrial disease v0.257 ACADS Bryony Thompson Gene: acads has been classified as Green List (High Evidence).
Mitochondrial disease v0.257 ACADS Bryony Thompson Classified gene: ACADS as Green List (high evidence)
Mitochondrial disease v0.257 ACADS Bryony Thompson Gene: acads has been classified as Green List (High Evidence).
Mitochondrial disease v0.256 ACADS Bryony Thompson gene: ACADS was added
gene: ACADS was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADS were set to 25778941; 2808706; 29678161
Phenotypes for gene: ACADS were set to Acyl-CoA dehydrogenase, short-chain, deficiency of MIM#201470
Review for gene: ACADS was set to GREEN
Added comment: Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive mitochondrial disorder of fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >10 cases reported.
Sources: NHS GMS, Literature
Mitochondrial disease v0.255 ACADM Bryony Thompson Marked gene: ACADM as ready
Mitochondrial disease v0.255 ACADM Bryony Thompson Gene: acadm has been classified as Green List (High Evidence).
Mitochondrial disease v0.255 ACADM Bryony Thompson Classified gene: ACADM as Green List (high evidence)
Mitochondrial disease v0.255 ACADM Bryony Thompson Gene: acadm has been classified as Green List (High Evidence).
Mitochondrial disease v0.254 ACADM Bryony Thompson gene: ACADM was added
gene: ACADM was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADM were set to 25778941; 1972503; 26223887
Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of MIM#201450
Review for gene: ACADM was set to GREEN
Added comment: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a disorder of mitochondrial fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: NHS GMS, Literature
Mitochondrial disease v0.253 OXCT1 Bryony Thompson Marked gene: OXCT1 as ready
Mitochondrial disease v0.253 OXCT1 Bryony Thompson Gene: oxct1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.253 OXCT1 Bryony Thompson Classified gene: OXCT1 as Green List (high evidence)
Mitochondrial disease v0.253 OXCT1 Bryony Thompson Gene: oxct1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.252 OXCT1 Bryony Thompson gene: OXCT1 was added
gene: OXCT1 was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXCT1 were set to 25778941; 10964512; 8751852; 23420214
Phenotypes for gene: OXCT1 were set to Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050
Review for gene: OXCT1 was set to GREEN
Added comment: A mitochondrial matrix enzyme. Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare inherited metabolic disorder of ketone metabolism. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: NHS GMS, Literature
Mitochondrial disease v0.251 HMGCS2 Bryony Thompson Marked gene: HMGCS2 as ready
Mitochondrial disease v0.251 HMGCS2 Bryony Thompson Gene: hmgcs2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.251 HMGCS2 Bryony Thompson Classified gene: HMGCS2 as Green List (high evidence)
Mitochondrial disease v0.251 HMGCS2 Bryony Thompson Gene: hmgcs2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.250 HMGCS2 Bryony Thompson gene: HMGCS2 was added
gene: HMGCS2 was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMGCS2 were set to 25778941; 9337379; 23751782
Phenotypes for gene: HMGCS2 were set to HMG-CoA synthase-2 deficiency MIM#605911
Review for gene: HMGCS2 was set to GREEN
Added comment: Mitochondrial HMG-CoA synthase deficiency is a rare inherited metabolic disorder that affects ketone-body synthesis. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: NHS GMS, Literature
Mitochondrial disease v0.249 HMGCL Bryony Thompson Marked gene: HMGCL as ready
Mitochondrial disease v0.249 HMGCL Bryony Thompson Gene: hmgcl has been classified as Green List (High Evidence).
Mitochondrial disease v0.249 HMGCL Bryony Thompson Classified gene: HMGCL as Green List (high evidence)
Mitochondrial disease v0.249 HMGCL Bryony Thompson Gene: hmgcl has been classified as Green List (High Evidence).
Mitochondrial disease v0.248 HMGCL Bryony Thompson gene: HMGCL was added
gene: HMGCL was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMGCL were set to 25778941; 11129331; 19036343
Phenotypes for gene: HMGCL were set to HMG-CoA lyase deficiency MIM#246450
Review for gene: HMGCL was set to GREEN
Added comment: 3-Hydroxy-3-methylglutaric aciduria is a rare autosomal recessive genetic disorder due to a deficiency of the 3-hydroxy-3-methylglutarylCoA lyase (HMG-CoA lyase), a mitochondrial enzyme involved in ketogenesis and in the final step of l-leucine catabolism. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: NHS GMS, Literature
Mitochondrial disease v0.247 ACAT1 Bryony Thompson Classified gene: ACAT1 as Green List (high evidence)
Mitochondrial disease v0.247 ACAT1 Bryony Thompson Gene: acat1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.246 ACAT1 Bryony Thompson gene: ACAT1 was added
gene: ACAT1 was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACAT1 were set to 31268215; 25778941; 1715688
Phenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria MIM#203750
Review for gene: ACAT1 was set to GREEN
Added comment: Mitochondrial acetoacetyl-CoA thiolase deficiency is an inherited disorder of ketone body and isoleucine metabolism. A defect in the substrate-generating upstream reactions of OXPHOS. Over 100 cases reported.
Sources: NHS GMS, Literature
Mitochondrial disease v0.245 XPNPEP3 Bryony Thompson Marked gene: XPNPEP3 as ready
Mitochondrial disease v0.245 XPNPEP3 Bryony Thompson Gene: xpnpep3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.245 XPNPEP3 Bryony Thompson Classified gene: XPNPEP3 as Amber List (moderate evidence)
Mitochondrial disease v0.245 XPNPEP3 Bryony Thompson Added comment: Comment on list classification: No other families reported since the two reported in 2010, and the animal model is a zebrafish rather than mouse, thus set to amber.
Mitochondrial disease v0.245 XPNPEP3 Bryony Thompson Gene: xpnpep3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.244 XPNPEP3 Bryony Thompson gene: XPNPEP3 was added
gene: XPNPEP3 was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XPNPEP3 were set to 20179356; 25778941
Phenotypes for gene: XPNPEP3 were set to Nephronophthisis-like nephropathy 1 MIM#613159
Review for gene: XPNPEP3 was set to AMBER
Added comment: Two families with two different homozygous variants, and a zebrafish model. The protein localises to the mitochondria of renal cells and is involved in mitochondrial homeostasis. It belongs to a family of X-pro-aminopeptidases, and has a role in ciliary function.
Sources: NHS GMS, Literature
Mitochondrial disease v0.243 SLC25A20 Bryony Thompson Marked gene: SLC25A20 as ready
Mitochondrial disease v0.243 SLC25A20 Bryony Thompson Gene: slc25a20 has been classified as Green List (High Evidence).
Mitochondrial disease v0.243 SLC25A20 Bryony Thompson Classified gene: SLC25A20 as Green List (high evidence)
Mitochondrial disease v0.243 SLC25A20 Bryony Thompson Gene: slc25a20 has been classified as Green List (High Evidence).
Mitochondrial disease v0.242 SLC25A20 Bryony Thompson gene: SLC25A20 was added
gene: SLC25A20 was added to Mitochondrial disease. Sources: Literature,NHS GMS
Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A20 were set to 9399886; 31108048; 25778941
Phenotypes for gene: SLC25A20 were set to Carnitine-acylcarnitine translocase deficiency MIM#212138
Review for gene: SLC25A20 was set to GREEN
Added comment: >3 cases. Condition is a recessive disorder of mitochondrial fatty acid oxidation.
Sources: Literature, NHS GMS
Mitochondrial disease v0.241 SLC22A5 Bryony Thompson Classified gene: SLC22A5 as Green List (high evidence)
Mitochondrial disease v0.241 SLC22A5 Bryony Thompson Gene: slc22a5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.240 SLC22A5 Bryony Thompson gene: SLC22A5 was added
gene: SLC22A5 was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC22A5 were set to 9916797; 25778941; 17884651
Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary MIM#212140
Review for gene: SLC22A5 was set to GREEN
Added comment: >3 cases and a mouse model. Protein has a function in carnitine-dependent oxidation of long-chain fatty acids in mitochondria and is essential for normal gut function.
Sources: NHS GMS, Literature
Mitochondrial disease v0.239 IDH3A Zornitza Stark Classified gene: IDH3A as Green List (high evidence)
Mitochondrial disease v0.239 IDH3A Zornitza Stark Gene: idh3a has been classified as Green List (High Evidence).
Mitochondrial disease v0.238 IDH3A Zornitza Stark gene: IDH3A was added
gene: IDH3A was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: IDH3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IDH3A were set to 31012789; 30478029; 30058936; 28412069
Phenotypes for gene: IDH3A were set to Retinitis pigmentosa
Review for gene: IDH3A was set to GREEN
Added comment: Six unrelated families reported with retinitis pigmentosa. Mouse model.
Sources: NHS GMS
Mitochondrial disease v0.237 HLCS Zornitza Stark Classified gene: HLCS as Green List (high evidence)
Mitochondrial disease v0.237 HLCS Zornitza Stark Gene: hlcs has been classified as Green List (High Evidence).
Mitochondrial disease v0.236 HLCS Zornitza Stark edited their review of gene: HLCS: Changed rating: GREEN
Mitochondrial disease v0.236 GATC Zornitza Stark Marked gene: GATC as ready
Mitochondrial disease v0.236 GATC Zornitza Stark Gene: gatc has been classified as Red List (Low Evidence).
Mitochondrial disease v0.236 GATC Zornitza Stark gene: GATC was added
gene: GATC was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: GATC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GATC were set to 30283131
Phenotypes for gene: GATC were set to Mitochondrial cardiomyopathy
Review for gene: GATC was set to RED
Added comment: Two families with 6 affected individuals reported; same homozygous variant.
Sources: NHS GMS
Mitochondrial disease v0.235 GATB Zornitza Stark Marked gene: GATB as ready
Mitochondrial disease v0.235 GATB Zornitza Stark Gene: gatb has been classified as Red List (Low Evidence).
Mitochondrial disease v0.235 GATB Zornitza Stark gene: GATB was added
gene: GATB was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: GATB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GATB were set to 30283131
Phenotypes for gene: GATB were set to Mitochondrial cardiomyopathy
Review for gene: GATB was set to RED
Added comment: Single family reported with two affected siblings.
Sources: NHS GMS
Mitochondrial disease v0.234 SLC25A10 Bryony Thompson Classified gene: SLC25A10 as Amber List (moderate evidence)
Mitochondrial disease v0.234 SLC25A10 Bryony Thompson Gene: slc25a10 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.233 SLC25A10 Bryony Thompson gene: SLC25A10 was added
gene: SLC25A10 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: SLC25A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A10 were set to 29211846
Phenotypes for gene: SLC25A10 were set to Intractable epileptic encephalopathy
Review for gene: SLC25A10 was set to AMBER
Added comment: One case with intractable epileptic encephalopathy with complex I deficiency, with biallelic variants. Yeast SLC25A10 ortholog lack-of-function causes impairment in mitochondrial respiration, reduced mtDNA copy number and oxidative stress vulnerability
Sources: NHS GMS
Mitochondrial disease v0.232 SLC25A21 Bryony Thompson Marked gene: SLC25A21 as ready
Mitochondrial disease v0.232 SLC25A21 Bryony Thompson Gene: slc25a21 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.232 SLC25A21 Bryony Thompson Classified gene: SLC25A21 as Amber List (moderate evidence)
Mitochondrial disease v0.232 SLC25A21 Bryony Thompson Gene: slc25a21 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.231 SLC25A21 Bryony Thompson gene: SLC25A21 was added
gene: SLC25A21 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: SLC25A21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A21 were set to 29517768
Phenotypes for gene: SLC25A21 were set to Mitochondrial DNA depletion syndrome-18 MIM#618811
Review for gene: SLC25A21 was set to AMBER
Added comment: One case with a homozygous variant and functional assays showing mitochondrial dysfunction.
Sources: NHS GMS
Mitochondrial disease v0.230 SLC25A24 Bryony Thompson Marked gene: SLC25A24 as ready
Mitochondrial disease v0.230 SLC25A24 Bryony Thompson Gene: slc25a24 has been classified as Green List (High Evidence).
Mitochondrial disease v0.230 SLC25A24 Bryony Thompson Classified gene: SLC25A24 as Green List (high evidence)
Mitochondrial disease v0.230 SLC25A24 Bryony Thompson Gene: slc25a24 has been classified as Green List (High Evidence).
Mitochondrial disease v0.229 SLC25A24 Bryony Thompson gene: SLC25A24 was added
gene: SLC25A24 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: SLC25A24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC25A24 were set to 29100094; 29100093
Phenotypes for gene: SLC25A24 were set to Fontaine progeroid syndrome MIM#612289
Review for gene: SLC25A24 was set to GREEN
Added comment: De novo heterozygous variants (R217H, R217C) were identified in 9 unrelated cases. Functional analysis demonstrated that the variants affect mitochondrial morphology, and also suggested an impact on oxidative phosphorylation via decreased ATP synthesis and an increase in the mitochondrial membrane potential, thus creating conditions that are inhospitable to cell proliferation.
Sources: NHS GMS
Mitochondrial disease v0.228 SLC39A8 Bryony Thompson Classified gene: SLC39A8 as Amber List (moderate evidence)
Mitochondrial disease v0.228 SLC39A8 Bryony Thompson Added comment: Comment on list classification: There's currently one family with a Leigh-like mitochondrial phenotype and in vitro functional assay data.
Mitochondrial disease v0.228 SLC39A8 Bryony Thompson Gene: slc39a8 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.227 SLC39A8 Zornitza Stark Marked gene: SLC39A8 as ready
Mitochondrial disease v0.227 SLC39A8 Zornitza Stark Gene: slc39a8 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.227 SLC39A8 Zornitza Stark Classified gene: SLC39A8 as Amber List (moderate evidence)
Mitochondrial disease v0.227 SLC39A8 Zornitza Stark Gene: slc39a8 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.226 SLC39A8 Bryony Thompson gene: SLC39A8 was added
gene: SLC39A8 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A8 were set to 29453449; 27995398
Phenotypes for gene: SLC39A8 were set to Congenital disorder of glycosylation, type IIn MIM#616721
Review for gene: SLC39A8 was set to AMBER
Added comment: Functional analyses of loss of function variants that have been identified in 3 CDG type II-associated cases and a Leigh-like syndrome mitochondrial disorder case resulted in mitochondrial dysfunction and oxidative stress.
Sources: NHS GMS
Mitochondrial disease v0.225 TIMMDC1 Zornitza Stark Tag deep intronic tag was added to gene: TIMMDC1.
Mitochondrial disease v0.225 SLC52A2 Bryony Thompson Marked gene: SLC52A2 as ready
Mitochondrial disease v0.225 SLC52A2 Bryony Thompson Gene: slc52a2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.225 SLC52A2 Bryony Thompson Classified gene: SLC52A2 as Green List (high evidence)
Mitochondrial disease v0.225 SLC52A2 Bryony Thompson Gene: slc52a2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.224 SLC52A2 Bryony Thompson gene: SLC52A2 was added
gene: SLC52A2 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC52A2 were set to 29053833; 29193829
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2 MIM#614707
Review for gene: SLC52A2 was set to GREEN
Added comment: The phenotype of at least 7 cases resembles a phenotype similar to mitochondrial disorders, electron transport chain complex I and complex II activity were decreased in SLC52A2 patient fibroblasts, and Drosophila model implicates mitochondrial dysfunction as a downstream consequence of riboflavin transporter gene defects.
Sources: NHS GMS
Mitochondrial disease v0.223 SLC52A3 Bryony Thompson Marked gene: SLC52A3 as ready
Mitochondrial disease v0.223 SLC52A3 Bryony Thompson Gene: slc52a3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.223 SLC52A3 Bryony Thompson Classified gene: SLC52A3 as Green List (high evidence)
Mitochondrial disease v0.223 SLC52A3 Bryony Thompson Gene: slc52a3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.222 SLC52A3 Bryony Thompson gene: SLC52A3 was added
gene: SLC52A3 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC52A3 were set to 29053833; 29193829
Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1 MIM#211530
Review for gene: SLC52A3 was set to GREEN
Added comment: The phenotype of >10 cases resembles a phenotype similar to mitochondrial disorders and Drosophila model implicates mitochondrial dysfunction as a downstream consequence of riboflavin transporter gene defects.
Sources: NHS GMS
Mitochondrial disease v0.221 SPATA5 Bryony Thompson Marked gene: SPATA5 as ready
Mitochondrial disease v0.221 SPATA5 Bryony Thompson Gene: spata5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.221 SPATA5 Bryony Thompson Classified gene: SPATA5 as Green List (high evidence)
Mitochondrial disease v0.221 SPATA5 Bryony Thompson Gene: spata5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.220 SPATA5 Bryony Thompson gene: SPATA5 was added
gene: SPATA5 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5 were set to 30009132; 29343804
Phenotypes for gene: SPATA5 were set to Epilepsy, hearing loss, and mental retardation syndrome MIM#616577
Review for gene: SPATA5 was set to GREEN
Added comment: At least five cases with biallelic variants had a clinical presentation resembling a mitochondrial disorder. Functional assays showed SPATA5-deficient neurons had a significant imbalance in the mitochondrial fusion-fission rate, impaired energy production and short axons.
Sources: NHS GMS
Mitochondrial disease v0.219 SSBP1 Bryony Thompson Marked gene: SSBP1 as ready
Mitochondrial disease v0.219 SSBP1 Bryony Thompson Gene: ssbp1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.219 SSBP1 Bryony Thompson Classified gene: SSBP1 as Green List (high evidence)
Mitochondrial disease v0.219 SSBP1 Bryony Thompson Added comment: Comment on list classification: Cases associated with mtDNA depletion without accumulation of multiple deletions
Mitochondrial disease v0.219 SSBP1 Bryony Thompson Gene: ssbp1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.218 SSBP1 Bryony Thompson gene: SSBP1 was added
gene: SSBP1 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: SSBP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SSBP1 were set to 31298765; 31479473; 31550237; 31550240
Phenotypes for gene: SSBP1 were set to Optic atrophy with or without extraocular phenotypes
Review for gene: SSBP1 was set to GREEN
Added comment: At least 9 dominant families/cases and 1 recessive with optic atrophy with/without additional clinical features, including retinal macular dystrophy, sensorineural deafness, mitochondrial myopathy, and kidney failure. Supporting evidence in functional assays and zebrafish model.
Sources: NHS GMS
Mitochondrial disease v0.217 TFAM Bryony Thompson Marked gene: TFAM as ready
Mitochondrial disease v0.217 TFAM Bryony Thompson Gene: tfam has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.217 TFAM Bryony Thompson Classified gene: TFAM as Amber List (moderate evidence)
Mitochondrial disease v0.217 TFAM Bryony Thompson Gene: tfam has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.216 TFAM Bryony Thompson gene: TFAM was added
gene: TFAM was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: TFAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TFAM were set to 27448789; 29021295; 9500544
Phenotypes for gene: TFAM were set to Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MIM#617156
Review for gene: TFAM was set to AMBER
Added comment: One consanguineous family segregates a homozygous variant. Tfam knockout mouse has a mitochondrial cardiomyopathy phenotype and severe mtDNA depletion with abolished oxidative phosphorylation.
Sources: NHS GMS
Mitochondrial disease v0.215 TIMM22 Bryony Thompson Classified gene: TIMM22 as Amber List (moderate evidence)
Mitochondrial disease v0.215 TIMM22 Bryony Thompson Gene: timm22 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.214 TIMM22 Bryony Thompson changed review comment from: One compound heterozygote case identified with supporting in vitro and patient cell functional assays.
Sources: NHS GMS; to: One compound heterozygote case identified with supporting in vitro and patient cell functional assays. No OMIM phenotype recorded.
Sources: NHS GMS
Mitochondrial disease v0.214 TIMM22 Bryony Thompson gene: TIMM22 was added
gene: TIMM22 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: TIMM22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TIMM22 were set to 30452684
Phenotypes for gene: TIMM22 were set to hypotonia; gastroesophageal reflux disease
Review for gene: TIMM22 was set to AMBER
Added comment: One compound heterozygote case identified with supporting in vitro and patient cell functional assays.
Sources: NHS GMS
Mitochondrial disease v0.213 TIMMDC1 Bryony Thompson Classified gene: TIMMDC1 as Amber List (moderate evidence)
Mitochondrial disease v0.213 TIMMDC1 Bryony Thompson Gene: timmdc1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.212 TIMMDC1 Bryony Thompson gene: TIMMDC1 was added
gene: TIMMDC1 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: TIMMDC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TIMMDC1 were set to 28604674; 30981218
Phenotypes for gene: TIMMDC1 were set to Mitochondrial complex I deficiency, nuclear type 31 MIM#618251
Review for gene: TIMMDC1 was set to AMBER
Added comment: A deep intronic variant (c.597-1340A>G, only detectable by WGS) that causes a splicing aberration was identified in a homozygous state in 3 unrelated cases from different ethnic backgrounds. A patient with Leigh-like syndrome had a homozygous stopgain variant in PDHX and a homozygous stopgain variant in TIMMDC1 (p.Arg225*). The TIMMDC1 mutant protein could still rescue complex I assembly in TIMMDC1 knockout cells and the patient’s clinical phenotype was not clearly distinct from that of other patients with the same PDHX defect.
Sources: NHS GMS
Mitochondrial disease v0.211 TMEM65 Bryony Thompson Classified gene: TMEM65 as Amber List (moderate evidence)
Mitochondrial disease v0.211 TMEM65 Bryony Thompson Gene: tmem65 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.210 TMEM65 Bryony Thompson edited their review of gene: TMEM65: Changed rating: AMBER
Mitochondrial disease v0.210 TMEM65 Bryony Thompson changed review comment from: One homozygous case with a mitochondrial encephalomyopathy and functional assays showing the protein is important for mitochondrial respiration and mtDNA copy number maintenance. Currently no OMIM or Gene2Phenotype phenotype entries.
Sources: NHS GMS; to: One homozygous case with a mitochondrial encephalomyopathy and functional assays showing the protein is important for mitochondrial respiration and mtDNA copy number maintenance. Currently no OMIM or Gene2Phenotype phenotype entries.
Sources: NHS GMS
Mitochondrial disease v0.210 TMEM65 Bryony Thompson gene: TMEM65 was added
gene: TMEM65 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: TMEM65 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM65 were set to 28295037
Phenotypes for gene: TMEM65 were set to Mitochondrial encephalomyopathy
Added comment: One homozygous case with a mitochondrial encephalomyopathy and functional assays showing the protein is important for mitochondrial respiration and mtDNA copy number maintenance. Currently no OMIM or Gene2Phenotype phenotype entries.
Sources: NHS GMS
Mitochondrial disease v0.209 COX6A2 Zornitza Stark Classified gene: COX6A2 as Green List (high evidence)
Mitochondrial disease v0.209 COX6A2 Zornitza Stark Gene: cox6a2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.209 COX6A2 Zornitza Stark Marked gene: COX6A2 as ready
Mitochondrial disease v0.209 COX6A2 Zornitza Stark Gene: cox6a2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.209 COX6A2 Zornitza Stark Classified gene: COX6A2 as Green List (high evidence)
Mitochondrial disease v0.209 COX6A2 Zornitza Stark Gene: cox6a2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.208 COX6A2 Zornitza Stark gene: COX6A2 was added
gene: COX6A2 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: COX6A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX6A2 were set to 31155743; 23460811
Phenotypes for gene: COX6A2 were set to Mitochondrial complex IV deficiency, MIM# 220110
Review for gene: COX6A2 was set to GREEN
Added comment: Two unrelated families and two mouse models.
Sources: Expert list
Mitochondrial disease v0.207 USMG5 Bryony Thompson Classified gene: USMG5 as Amber List (moderate evidence)
Mitochondrial disease v0.207 USMG5 Bryony Thompson Added comment: Comment on list classification: Currently only one potential Ashkenazi Jewish founder reported so far.
Mitochondrial disease v0.207 USMG5 Bryony Thompson Gene: usmg5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.207 USMG5 Bryony Thompson Classified gene: USMG5 as Amber List (moderate evidence)
Mitochondrial disease v0.207 USMG5 Bryony Thompson Added comment: Comment on list classification: Currently only one potential Ashkenazi Jewish founder reported so far.
Mitochondrial disease v0.207 USMG5 Bryony Thompson Gene: usmg5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.206 USMG5 Bryony Thompson gene: USMG5 was added
gene: USMG5 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: USMG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USMG5 were set to 29917077; 30240627
Phenotypes for gene: USMG5 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683
Review for gene: USMG5 was set to AMBER
Added comment: A homozygous splice site mutation in 4 patients from 3 unrelated families of Ashkenazi Jewish descent. Experimental analyses demonstrated that the splice variant leads to loss of protein expression and haplotype analysis suggested a founder effect. In situ cryo-ET analysis of the mitochondria of a homozygous affected case showed profound disturbances of mitochondrial crista ultrastructure.
Sources: NHS GMS
Mitochondrial disease v0.205 APTX Zornitza Stark Marked gene: APTX as ready
Mitochondrial disease v0.205 APTX Zornitza Stark Gene: aptx has been classified as Green List (High Evidence).
Mitochondrial disease v0.205 COA7 Zornitza Stark Marked gene: COA7 as ready
Mitochondrial disease v0.205 COA7 Zornitza Stark Gene: coa7 has been classified as Green List (High Evidence).
Mitochondrial disease v0.205 COQ7 Zornitza Stark Marked gene: COQ7 as ready
Mitochondrial disease v0.205 COQ7 Zornitza Stark Gene: coq7 has been classified as Green List (High Evidence).
Mitochondrial disease v0.205 ETFDH Zornitza Stark Marked gene: ETFDH as ready
Mitochondrial disease v0.205 ETFDH Zornitza Stark Gene: etfdh has been classified as Green List (High Evidence).
Mitochondrial disease v0.205 MRPS34 Zornitza Stark Marked gene: MRPS34 as ready
Mitochondrial disease v0.205 MRPS34 Zornitza Stark Gene: mrps34 has been classified as Green List (High Evidence).
Mitochondrial disease v0.205 ATP5A1 Zornitza Stark Marked gene: ATP5A1 as ready
Mitochondrial disease v0.205 ATP5A1 Zornitza Stark Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.205 ATP5A1 Zornitza Stark Phenotypes for gene: ATP5A1 were changed from to Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228
Mitochondrial disease v0.204 ATP5A1 Zornitza Stark Publications for gene: ATP5A1 were set to
Mitochondrial disease v0.203 TARS2 Zornitza Stark Marked gene: TARS2 as ready
Mitochondrial disease v0.203 TARS2 Zornitza Stark Gene: tars2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.203 ATP5E Zornitza Stark Marked gene: ATP5E as ready
Mitochondrial disease v0.203 ATP5E Zornitza Stark Gene: atp5e has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.203 ATP5E Zornitza Stark Phenotypes for gene: ATP5E were changed from to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053
Mitochondrial disease v0.202 ATP5E Zornitza Stark Publications for gene: ATP5E were set to
Mitochondrial disease v0.201 ATP5E Zornitza Stark Mode of inheritance for gene: ATP5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.200 Zornitza Stark Panel types changed to Australian Genomics; Victorian Clinical Genetics Services; Royal Melbourne Hospital
Mitochondrial disease v0.199 COQ5 Zornitza Stark Marked gene: COQ5 as ready
Mitochondrial disease v0.199 COQ5 Zornitza Stark Gene: coq5 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.199 COQ5 Zornitza Stark gene: COQ5 was added
gene: COQ5 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: COQ5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ5 were set to 29044765
Phenotypes for gene: COQ5 were set to Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability
Review for gene: COQ5 was set to RED
Added comment: Three siblings reported, bi-allelic duplications in gene, said to lead to reduced CoQ10.
Sources: Expert list
Mitochondrial disease v0.198 CEP89 Zornitza Stark edited their review of gene: CEP89: Changed rating: RED
Mitochondrial disease v0.198 YME1L1 Bryony Thompson Classified gene: YME1L1 as Amber List (moderate evidence)
Mitochondrial disease v0.198 YME1L1 Bryony Thompson Gene: yme1l1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.198 YME1L1 Bryony Thompson Classified gene: YME1L1 as Amber List (moderate evidence)
Mitochondrial disease v0.198 YME1L1 Bryony Thompson Gene: yme1l1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.197 YME1L1 Bryony Thompson Marked gene: YME1L1 as ready
Mitochondrial disease v0.197 YME1L1 Bryony Thompson Gene: yme1l1 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.197 YME1L1 Bryony Thompson gene: YME1L1 was added
gene: YME1L1 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: YME1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YME1L1 were set to 30544562; 27495975
Phenotypes for gene: YME1L1 were set to Optic atrophy 11 MIM#617302
Review for gene: YME1L1 was set to AMBER
Added comment: One consanguineous family with a homozygous variant and functional assays. YME1L leads to mitochondrial fragmentation and severely disorganized and attenuated cristae architecture in in vitro functional assays.
Sources: NHS GMS
Mitochondrial disease v0.196 VPS13C Zornitza Stark Marked gene: VPS13C as ready
Mitochondrial disease v0.196 VPS13C Zornitza Stark Gene: vps13c has been classified as Green List (High Evidence).
Mitochondrial disease v0.196 VPS13C Zornitza Stark Phenotypes for gene: VPS13C were changed from to Early-onset Parkinson disease-23, MIM# 616840
Mitochondrial disease v0.195 VPS13C Zornitza Stark Publications for gene: VPS13C were set to
Mitochondrial disease v0.194 VPS13C Zornitza Stark Mode of inheritance for gene: VPS13C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.193 VPS13C Zornitza Stark reviewed gene: VPS13C: Rating: GREEN; Mode of pathogenicity: None; Publications: 26942284; Phenotypes: Early-onset Parkinson disease-23, MIM# 616840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.193 UQCRQ Zornitza Stark Marked gene: UQCRQ as ready
Mitochondrial disease v0.193 UQCRQ Zornitza Stark Gene: uqcrq has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.193 UQCRQ Zornitza Stark Phenotypes for gene: UQCRQ were changed from to Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159
Mitochondrial disease v0.192 UQCRQ Zornitza Stark Publications for gene: UQCRQ were set to
Mitochondrial disease v0.191 UQCRQ Zornitza Stark Mode of inheritance for gene: UQCRQ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.190 UQCRQ Zornitza Stark Classified gene: UQCRQ as Amber List (moderate evidence)
Mitochondrial disease v0.190 UQCRQ Zornitza Stark Gene: uqcrq has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.189 UQCRQ Zornitza Stark reviewed gene: UQCRQ: Rating: AMBER; Mode of pathogenicity: None; Publications: 18439546; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.189 UQCRC2 Zornitza Stark Marked gene: UQCRC2 as ready
Mitochondrial disease v0.189 UQCRC2 Zornitza Stark Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.189 UQCRC2 Zornitza Stark Phenotypes for gene: UQCRC2 were changed from to Mitochondrial complex III deficiency, nuclear type 5, MIM# 615160
Mitochondrial disease v0.188 UQCRC2 Zornitza Stark Publications for gene: UQCRC2 were set to
Mitochondrial disease v0.187 UQCRC2 Zornitza Stark Classified gene: UQCRC2 as Amber List (moderate evidence)
Mitochondrial disease v0.187 UQCRC2 Zornitza Stark Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.186 UQCRC2 Zornitza Stark reviewed gene: UQCRC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28275242, 23281071; Phenotypes: Mitochondrial complex III deficiency, nuclear type 5, MIM# 615160; Mode of inheritance: None
Mitochondrial disease v0.186 UQCC3 Zornitza Stark Marked gene: UQCC3 as ready
Mitochondrial disease v0.186 UQCC3 Zornitza Stark Gene: uqcc3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.186 UQCC3 Zornitza Stark Phenotypes for gene: UQCC3 were changed from to Mitochondrial complex III deficiency, nuclear type 9, MIM# 616111
Mitochondrial disease v0.185 UQCC3 Zornitza Stark Publications for gene: UQCC3 were set to
Mitochondrial disease v0.184 UQCC3 Zornitza Stark Mode of inheritance for gene: UQCC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.183 UQCC3 Zornitza Stark Classified gene: UQCC3 as Amber List (moderate evidence)
Mitochondrial disease v0.183 UQCC3 Zornitza Stark Gene: uqcc3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.182 UQCC3 Zornitza Stark reviewed gene: UQCC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25008109, 28804536; Phenotypes: Mitochondrial complex III deficiency, nuclear type 9, MIM# 616111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.182 TXN2 Zornitza Stark Marked gene: TXN2 as ready
Mitochondrial disease v0.182 TXN2 Zornitza Stark Gene: txn2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.182 TXN2 Zornitza Stark Phenotypes for gene: TXN2 were changed from to Combined oxidative phosphorylation deficiency 29, MIM# 616811
Mitochondrial disease v0.181 TXN2 Zornitza Stark Publications for gene: TXN2 were set to
Mitochondrial disease v0.180 TXN2 Zornitza Stark Mode of inheritance for gene: TXN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.179 TXN2 Zornitza Stark Classified gene: TXN2 as Amber List (moderate evidence)
Mitochondrial disease v0.179 TXN2 Zornitza Stark Gene: txn2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.178 TXN2 Zornitza Stark reviewed gene: TXN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26626369, 12529397; Phenotypes: Combined oxidative phosphorylation deficiency 29, MIM# 616811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.178 TARS2 Zornitza Stark Phenotypes for gene: TARS2 were changed from to Combined oxidative phosphorylation deficiency 21, MIM# 615918
Mitochondrial disease v0.177 TARS2 Zornitza Stark Publications for gene: TARS2 were set to
Mitochondrial disease v0.176 TARS2 Zornitza Stark Mode of inheritance for gene: TARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.175 TARS2 Zornitza Stark Classified gene: TARS2 as Amber List (moderate evidence)
Mitochondrial disease v0.175 TARS2 Zornitza Stark Gene: tars2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.174 TARS2 Zornitza Stark reviewed gene: TARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24827421, 26811336; Phenotypes: Combined oxidative phosphorylation deficiency 21, MIM# 615918; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.174 STAT2 Zornitza Stark Marked gene: STAT2 as ready
Mitochondrial disease v0.174 STAT2 Zornitza Stark Gene: stat2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.174 STAT2 Zornitza Stark Phenotypes for gene: STAT2 were changed from to Immunodeficiency 44, MIM# 616636
Mitochondrial disease v0.173 STAT2 Zornitza Stark Publications for gene: STAT2 were set to
Mitochondrial disease v0.172 STAT2 Zornitza Stark Mode of inheritance for gene: STAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.171 STAT2 Zornitza Stark reviewed gene: STAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23391734, 26122121; Phenotypes: Immunodeficiency 44, MIM# 616636; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.171 SLC25A38 Zornitza Stark Marked gene: SLC25A38 as ready
Mitochondrial disease v0.171 SLC25A38 Zornitza Stark Gene: slc25a38 has been classified as Green List (High Evidence).
Mitochondrial disease v0.171 SLC25A38 Zornitza Stark Classified gene: SLC25A38 as Green List (high evidence)
Mitochondrial disease v0.171 SLC25A38 Zornitza Stark Gene: slc25a38 has been classified as Green List (High Evidence).
Mitochondrial disease v0.170 SLC25A38 Zornitza Stark gene: SLC25A38 was added
gene: SLC25A38 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A38 were set to 19412178
Phenotypes for gene: SLC25A38 were set to Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950
Review for gene: SLC25A38 was set to GREEN
Added comment: SLC25A38 belongs to the SLC25 family of mitochondrial carrier proteins. Multiple affected families reported together with an animal model.
Sources: Expert list
Mitochondrial disease v0.169 SLC25A32 Zornitza Stark Marked gene: SLC25A32 as ready
Mitochondrial disease v0.169 SLC25A32 Zornitza Stark Gene: slc25a32 has been classified as Green List (High Evidence).
Mitochondrial disease v0.169 SLC25A32 Zornitza Stark Classified gene: SLC25A32 as Green List (high evidence)
Mitochondrial disease v0.169 SLC25A32 Zornitza Stark Gene: slc25a32 has been classified as Green List (High Evidence).
Mitochondrial disease v0.168 SLC25A32 Zornitza Stark gene: SLC25A32 was added
gene: SLC25A32 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: SLC25A32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A32 were set to 26933868; 28443623
Phenotypes for gene: SLC25A32 were set to Exercise intolerance, riboflavin-responsive, MIM# 616839
Review for gene: SLC25A32 was set to GREEN
Added comment: Two unrelated families reported with functional data. Muscle biopsy showed ragged-red fibers and lipid storage mainly in type I oxidative fibers, small type II fibers, and poor immunostaining for succinate dehydrogenase (FAD-dependent mitochondrial respiratory chain complex II). Oral supplementation with riboflavin led to dramatic improvement in the clinical and biologic abnormalities.
Sources: Expert list
Mitochondrial disease v0.167 SDHB Zornitza Stark Marked gene: SDHB as ready
Mitochondrial disease v0.167 SDHB Zornitza Stark Gene: sdhb has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.167 SDHB Zornitza Stark Phenotypes for gene: SDHB were changed from to Complex II deficiency; mitochondrial leucoencephalopathy
Mitochondrial disease v0.166 SDHB Zornitza Stark Publications for gene: SDHB were set to
Mitochondrial disease v0.165 SDHB Zornitza Stark Mode of inheritance for gene: SDHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.164 SDHB Zornitza Stark Classified gene: SDHB as Amber List (moderate evidence)
Mitochondrial disease v0.164 SDHB Zornitza Stark Gene: sdhb has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.163 SDHB Zornitza Stark reviewed gene: SDHB: Rating: AMBER; Mode of pathogenicity: None; Publications: 22972948, 26925370; Phenotypes: Complex II deficiency, mitochondrial leucoencephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.163 SDHAF2 Zornitza Stark Marked gene: SDHAF2 as ready
Mitochondrial disease v0.163 SDHAF2 Zornitza Stark Gene: sdhaf2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.163 SDHAF2 Zornitza Stark Phenotypes for gene: SDHAF2 were changed from to Paragangliomas 2, MIM# 601650
Mitochondrial disease v0.162 SDHAF2 Zornitza Stark Classified gene: SDHAF2 as Red List (low evidence)
Mitochondrial disease v0.162 SDHAF2 Zornitza Stark Gene: sdhaf2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.161 SDHAF2 Zornitza Stark reviewed gene: SDHAF2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 2, MIM# 601650; Mode of inheritance: None
Mitochondrial disease v0.161 SACS Zornitza Stark Marked gene: SACS as ready
Mitochondrial disease v0.161 SACS Zornitza Stark Gene: sacs has been classified as Green List (High Evidence).
Mitochondrial disease v0.161 SACS Zornitza Stark Classified gene: SACS as Green List (high evidence)
Mitochondrial disease v0.161 SACS Zornitza Stark Gene: sacs has been classified as Green List (High Evidence).
Mitochondrial disease v0.160 SACS Zornitza Stark gene: SACS was added
gene: SACS was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SACS were set to 22307627; 20876471
Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550
Review for gene: SACS was set to GREEN
Added comment: Progressive neurological disorder, multiple families reported, mitochondrial dysfunction.
Sources: Expert list
Mitochondrial disease v0.159 PDK3 Zornitza Stark Marked gene: PDK3 as ready
Mitochondrial disease v0.159 PDK3 Zornitza Stark Gene: pdk3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.159 PDK3 Zornitza Stark Phenotypes for gene: PDK3 were changed from to Charcot-Marie-Tooth disease, X-linked dominant, 6, MIM# 300905
Mitochondrial disease v0.158 PDK3 Zornitza Stark Publications for gene: PDK3 were set to
Mitochondrial disease v0.157 PDK3 Zornitza Stark Mode of inheritance for gene: PDK3 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mitochondrial disease v0.156 PDK3 Zornitza Stark reviewed gene: PDK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23297365, 28902413, 26801680; Phenotypes: Charcot-Marie-Tooth disease, X-linked dominant, 6, MIM# 300905; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mitochondrial disease v0.156 PC Zornitza Stark Marked gene: PC as ready
Mitochondrial disease v0.156 PC Zornitza Stark Gene: pc has been classified as Green List (High Evidence).
Mitochondrial disease v0.156 PC Zornitza Stark Classified gene: PC as Green List (high evidence)
Mitochondrial disease v0.156 PC Zornitza Stark Gene: pc has been classified as Green List (High Evidence).
Mitochondrial disease v0.155 PC Zornitza Stark gene: PC was added
gene: PC was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency, MIM# 266150
Review for gene: PC was set to GREEN
Added comment: Multiple families reported. Spectrum of severity ranging from death in infancy to a relatively benign condition. Correlates with variant impact with more severely affected individuals having at least one truncating variant.
Sources: Expert list
Mitochondrial disease v0.154 NFS1 Zornitza Stark Marked gene: NFS1 as ready
Mitochondrial disease v0.154 NFS1 Zornitza Stark Gene: nfs1 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.154 NFS1 Zornitza Stark Phenotypes for gene: NFS1 were changed from to Complex II/III deficiency; multisystem organ failure
Mitochondrial disease v0.153 NFS1 Zornitza Stark Publications for gene: NFS1 were set to
Mitochondrial disease v0.152 NFS1 Zornitza Stark Mode of inheritance for gene: NFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.151 NFS1 Zornitza Stark Classified gene: NFS1 as Red List (low evidence)
Mitochondrial disease v0.151 NFS1 Zornitza Stark Gene: nfs1 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.150 NFS1 Zornitza Stark reviewed gene: NFS1: Rating: RED; Mode of pathogenicity: None; Publications: 24498631; Phenotypes: Complex II/III deficiency, multisystem organ failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.150 NDUFA6 Zornitza Stark Marked gene: NDUFA6 as ready
Mitochondrial disease v0.150 NDUFA6 Zornitza Stark Gene: ndufa6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.150 NDUFA6 Zornitza Stark Classified gene: NDUFA6 as Green List (high evidence)
Mitochondrial disease v0.150 NDUFA6 Zornitza Stark Gene: ndufa6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.149 NDUFA6 Zornitza Stark gene: NDUFA6 was added
gene: NDUFA6 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: NDUFA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA6 were set to 30245030
Phenotypes for gene: NDUFA6 were set to Mitochondrial complex I deficiency, nuclear type 33, MIM# 618253
Review for gene: NDUFA6 was set to GREEN
gene: NDUFA6 was marked as current diagnostic
Added comment: Four unrelated children reported with bi-allelic variants in this gene and delayed development and/or neurologic deterioration in the first weeks or years of life. Two individuals died in infancy; the other 2 were unable to stand, walk, or speak, and had optic atrophy.
Sources: Expert list
Mitochondrial disease v0.148 NDUFA4 Zornitza Stark Marked gene: NDUFA4 as ready
Mitochondrial disease v0.148 NDUFA4 Zornitza Stark Gene: ndufa4 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.148 NDUFA4 Zornitza Stark Phenotypes for gene: NDUFA4 were changed from to Leigh syndrome; Complex IV deficiency
Mitochondrial disease v0.147 NDUFA4 Zornitza Stark Publications for gene: NDUFA4 were set to
Mitochondrial disease v0.146 NDUFA4 Zornitza Stark Mode of inheritance for gene: NDUFA4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.145 NDUFA4 Zornitza Stark Classified gene: NDUFA4 as Amber List (moderate evidence)
Mitochondrial disease v0.145 NDUFA4 Zornitza Stark Gene: ndufa4 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.144 NDUFA4 Zornitza Stark reviewed gene: NDUFA4: Rating: AMBER; Mode of pathogenicity: None; Publications: 30361421, 28988874, 23746447; Phenotypes: Leigh syndrome, Complex IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.144 NDUFA13 Zornitza Stark Marked gene: NDUFA13 as ready
Mitochondrial disease v0.144 NDUFA13 Zornitza Stark Gene: ndufa13 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.144 NDUFA13 Zornitza Stark Phenotypes for gene: NDUFA13 were changed from to Mitochondrial complex I deficiency, nuclear type 28, MIM# 618249
Mitochondrial disease v0.143 NDUFA13 Zornitza Stark Publications for gene: NDUFA13 were set to
Mitochondrial disease v0.142 NDUFA13 Zornitza Stark Mode of inheritance for gene: NDUFA13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.141 NDUFA13 Zornitza Stark Classified gene: NDUFA13 as Red List (low evidence)
Mitochondrial disease v0.141 NDUFA13 Zornitza Stark Gene: ndufa13 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.140 NDUFA13 Zornitza Stark reviewed gene: NDUFA13: Rating: RED; Mode of pathogenicity: None; Publications: 25901006; Phenotypes: Mitochondrial complex I deficiency, nuclear type 28, MIM# 618249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.140 NADK2 Zornitza Stark Marked gene: NADK2 as ready
Mitochondrial disease v0.140 NADK2 Zornitza Stark Gene: nadk2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.140 NADK2 Zornitza Stark Classified gene: NADK2 as Green List (high evidence)
Mitochondrial disease v0.140 NADK2 Zornitza Stark Gene: nadk2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.139 NADK2 Zornitza Stark gene: NADK2 was added
gene: NADK2 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: NADK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NADK2 were set to 24847004; 29388319; 27940755
Phenotypes for gene: NADK2 were set to 2,4-dienoyl-CoA reductase deficiency, MIM# 616034
Review for gene: NADK2 was set to GREEN
Added comment: Mitochondrial dysfunction resulting in severe neurologic and metabolic dysfunction beginning in early infancy reported in two individuals with confirmed variants in this gene. Another individual with homozygous hypomorphic start loss variant g.36241900 A>G p. Met1Val and milder phenotype reported (PMID:29388319).
Sources: Expert list
Mitochondrial disease v0.138 MSTO1 Zornitza Stark Marked gene: MSTO1 as ready
Mitochondrial disease v0.138 MSTO1 Zornitza Stark Gene: msto1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.138 MSTO1 Zornitza Stark Classified gene: MSTO1 as Green List (high evidence)
Mitochondrial disease v0.138 MSTO1 Zornitza Stark Gene: msto1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.137 MSTO1 Zornitza Stark gene: MSTO1 was added
gene: MSTO1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: MSTO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MSTO1 were set to 28554942; 28544275; 31604776; 31463572; 31130378; 30684668; 29339779
Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia, MIM# 617675
Review for gene: MSTO1 was set to GREEN
gene: MSTO1 was marked as current diagnostic
Added comment: Impaired mitochondrial fusion disorder. Multiple families reported with bi-allelic variants and childhood-onset muscular dystrophy, corticospinal tract dysfunction and early-onset non-progressive cerebellar atrophy. One family reported with heterozygous variant in this gene, gene-disease association for mono allelic variants not well established.
Sources: Expert list
Mitochondrial disease v0.136 ISCA1 Zornitza Stark Marked gene: ISCA1 as ready
Mitochondrial disease v0.136 ISCA1 Zornitza Stark Gene: isca1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.136 ISCA1 Zornitza Stark Classified gene: ISCA1 as Green List (high evidence)
Mitochondrial disease v0.136 ISCA1 Zornitza Stark Gene: isca1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.135 ISCA1 Zornitza Stark gene: ISCA1 was added
gene: ISCA1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCA1 were set to 28356563; 32092383; 31016283; 30113620; 30105122
Phenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613
Review for gene: ISCA1 was set to GREEN
gene: ISCA1 was marked as current diagnostic
Added comment: Multiple unrelated families reported. Severe disorder characterised by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Rat model results in early lethality. Founder variant c.259G > A, p.(Glu87Lys) reported in Indian families.
Sources: Expert list
Mitochondrial disease v0.134 IDH3B Zornitza Stark Marked gene: IDH3B as ready
Mitochondrial disease v0.134 IDH3B Zornitza Stark Gene: idh3b has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.134 IDH3B Zornitza Stark Phenotypes for gene: IDH3B were changed from to Retinitis pigmentosa 46, MIM# 612572
Mitochondrial disease v0.133 IDH3B Zornitza Stark Publications for gene: IDH3B were set to
Mitochondrial disease v0.132 IDH3B Zornitza Stark Mode of inheritance for gene: IDH3B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.131 IDH3B Zornitza Stark Classified gene: IDH3B as Amber List (moderate evidence)
Mitochondrial disease v0.131 IDH3B Zornitza Stark Gene: idh3b has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.130 IDH3B Zornitza Stark reviewed gene: IDH3B: Rating: AMBER; Mode of pathogenicity: None; Publications: 18806796, 31736247; Phenotypes: Retinitis pigmentosa 46, MIM# 612572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.130 HTRA2 Zornitza Stark Marked gene: HTRA2 as ready
Mitochondrial disease v0.130 HTRA2 Zornitza Stark Gene: htra2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.130 HTRA2 Zornitza Stark Classified gene: HTRA2 as Green List (high evidence)
Mitochondrial disease v0.130 HTRA2 Zornitza Stark Gene: htra2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.129 HTRA2 Zornitza Stark gene: HTRA2 was added
gene: HTRA2 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HTRA2 were set to 27208207; 27696117
Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria, type VIII, MIM# 617248
Review for gene: HTRA2 was set to GREEN
gene: HTRA2 was marked as current diagnostic
Added comment: Severe disorder typically presenting with hypotonia, abnormal movements, respiratory insufficiency with apnoea, and lack of developmental progress, often with seizures. Brain imaging is variable, but may show progressive cerebral atrophy. Increased serum lactate and 3-methylglutaconic aciduria. At least four unrelated families reported.
Sources: Expert list
Mitochondrial disease v0.128 HLCS Zornitza Stark Marked gene: HLCS as ready
Mitochondrial disease v0.128 HLCS Zornitza Stark Gene: hlcs has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.128 HLCS Zornitza Stark Classified gene: HLCS as Amber List (moderate evidence)
Mitochondrial disease v0.128 HLCS Zornitza Stark Gene: hlcs has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.127 HLCS Zornitza Stark gene: HLCS was added
gene: HLCS was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HLCS were set to Holocarboxylase synthetase deficiency, MIM# 253270
Review for gene: HLCS was set to AMBER
Added comment: HCS localises to nucleus. Clinical presentation is with metabolic acidosis, which could potentially mimic a mitochondrial disorder.
Sources: Expert list
Mitochondrial disease v0.126 GDAP1 Zornitza Stark Marked gene: GDAP1 as ready
Mitochondrial disease v0.126 GDAP1 Zornitza Stark Gene: gdap1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.126 GDAP1 Zornitza Stark Classified gene: GDAP1 as Green List (high evidence)
Mitochondrial disease v0.126 GDAP1 Zornitza Stark Gene: gdap1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.125 GDAP1 Zornitza Stark gene: GDAP1 was added
gene: GDAP1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: GDAP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GDAP1 were set to 16172208; 21753178; 21365284; 20232219; 11743580
Phenotypes for gene: GDAP1 were set to Charcot-Marie-Tooth disease, axonal, type 2K 607831, MIM# Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM# 607706; Charcot-Marie-Tooth disease, recessive intermediate, A, MIM# 608340; Charcot-Marie-Tooth disease, type 4A, MIM# 214400
Review for gene: GDAP1 was set to GREEN
Added comment: GDAP1 is an integral membrane protein of the outer mitochondrial membrane. Overexpression of Gdap1 induces fragmentation of mitochondria without inducing apoptosis, affecting overall mitochondrial activity, or interfering with mitochondrial fusion. Gdap1-specific knockdown by RNA interference resulted in a tubular mitochondrial morphology.
Sources: Expert list
Mitochondrial disease v0.124 FXN Zornitza Stark Marked gene: FXN as ready
Mitochondrial disease v0.124 FXN Zornitza Stark Gene: fxn has been classified as Green List (High Evidence).
Mitochondrial disease v0.124 FXN Zornitza Stark Phenotypes for gene: FXN were changed from to Friedreich ataxia, MIM# 229300
Mitochondrial disease v0.123 FXN Zornitza Stark Publications for gene: FXN were set to
Mitochondrial disease v0.122 FXN Zornitza Stark Mode of inheritance for gene: FXN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.121 FXN Zornitza Stark reviewed gene: FXN: Rating: GREEN; Mode of pathogenicity: None; Publications: 10500103, 11351132; Phenotypes: Friedreich ataxia, MIM# 229300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.121 ETFB Zornitza Stark Marked gene: ETFB as ready
Mitochondrial disease v0.121 ETFB Zornitza Stark Gene: etfb has been classified as Green List (High Evidence).
Mitochondrial disease v0.121 ETFA Zornitza Stark Marked gene: ETFA as ready
Mitochondrial disease v0.121 ETFA Zornitza Stark Gene: etfa has been classified as Green List (High Evidence).
Mitochondrial disease v0.121 ERCC6L2 Zornitza Stark Marked gene: ERCC6L2 as ready
Mitochondrial disease v0.121 ERCC6L2 Zornitza Stark Added comment: Comment when marking as ready: Agree, not in the scope of this panel.
Mitochondrial disease v0.121 ERCC6L2 Zornitza Stark Gene: ercc6l2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.121 ERCC6L2 Zornitza Stark Phenotypes for gene: ERCC6L2 were changed from to Bone marrow failure syndrome 2, MIM#615715
Mitochondrial disease v0.120 ERCC6L2 Zornitza Stark Publications for gene: ERCC6L2 were set to
Mitochondrial disease v0.120 ERCC6L2 Zornitza Stark Mode of inheritance for gene: ERCC6L2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.119 ERCC6L2 Zornitza Stark Classified gene: ERCC6L2 as Red List (low evidence)
Mitochondrial disease v0.119 ERCC6L2 Zornitza Stark Gene: ercc6l2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.118 DNM2 Zornitza Stark Marked gene: DNM2 as ready
Mitochondrial disease v0.118 DNM2 Zornitza Stark Gene: dnm2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.118 DNM2 Zornitza Stark Classified gene: DNM2 as Green List (high evidence)
Mitochondrial disease v0.118 DNM2 Zornitza Stark Gene: dnm2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.117 DNM2 Zornitza Stark gene: DNM2 was added
gene: DNM2 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: DNM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: DNM2 were set to Centronuclear myopathy 1 160150 AD 3 Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482; Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482; Lethal congenital contracture syndrome 5, MIM# 615368
Review for gene: DNM2 was set to GREEN
gene: DNM2 was marked as current diagnostic
Added comment: Involved in mitochondrial division, histopathological abnormalities affecting mitochondria reported. Neuromuscular presentation, AR variants are thought to be hypomorphic.
Sources: Expert list
Mitochondrial disease v0.116 CYCS Zornitza Stark Marked gene: CYCS as ready
Mitochondrial disease v0.116 CYCS Zornitza Stark Gene: cycs has been classified as Green List (High Evidence).
Mitochondrial disease v0.116 CYCS Zornitza Stark Phenotypes for gene: CYCS were changed from to Thrombocytopenia 4, MIM#612004
Mitochondrial disease v0.115 CYCS Zornitza Stark Publications for gene: CYCS were set to
Mitochondrial disease v0.114 CYCS Zornitza Stark Mode of inheritance for gene: CYCS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disease v0.113 CA5A Zornitza Stark Marked gene: CA5A as ready
Mitochondrial disease v0.113 CA5A Zornitza Stark Gene: ca5a has been classified as Green List (High Evidence).
Mitochondrial disease v0.113 CA5A Zornitza Stark Classified gene: CA5A as Green List (high evidence)
Mitochondrial disease v0.113 CA5A Zornitza Stark Gene: ca5a has been classified as Green List (High Evidence).
Mitochondrial disease v0.112 CA5A Zornitza Stark gene: CA5A was added
gene: CA5A was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA5A were set to Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751
Review for gene: CA5A was set to GREEN
Added comment: Acute onset of encephalopathy in infancy or early childhood with metabolic acidosis and respiratory alkalosis, hypoglycemia, increased serum lactate and alanine, and evidence of impaired provision of bicarbonate to essential mitochondrial enzymes. Episodic acute events in early childhood with intercurrent illness but relatively limited neurological sequelae.
Sources: Expert list
Mitochondrial disease v0.111 MRPS34 Zornitza Stark Phenotypes for gene: MRPS34 were changed from to Combined oxidative phosphorylation deficiency 32, MIM# 617664
Mitochondrial disease v0.110 MRPS34 Zornitza Stark Publications for gene: MRPS34 were set to
Mitochondrial disease v0.109 MRPS34 Zornitza Stark Mode of inheritance for gene: MRPS34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.108 MRPS34 Zornitza Stark reviewed gene: MRPS34: Rating: GREEN; Mode of pathogenicity: None; Publications: 28777931; Phenotypes: Combined oxidative phosphorylation deficiency 32, MIM# 617664; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.108 TACO1 Zornitza Stark Marked gene: TACO1 as ready
Mitochondrial disease v0.108 TACO1 Zornitza Stark Gene: taco1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.108 TACO1 Zornitza Stark Phenotypes for gene: TACO1 were changed from to Mitochondrial complex IV deficiency; OMIM #220110
Mitochondrial disease v0.107 TACO1 Zornitza Stark Publications for gene: TACO1 were set to
Mitochondrial disease v0.106 TACO1 Zornitza Stark Mode of inheritance for gene: TACO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.105 TACO1 Zornitza Stark reviewed gene: TACO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19503089, 20727754, 25044680, 27319982; Phenotypes: Mitochondrial complex IV deficiency, OMIM #220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.105 COX4I2 Zornitza Stark Marked gene: COX4I2 as ready
Mitochondrial disease v0.105 COX4I2 Zornitza Stark Gene: cox4i2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.105 COX4I2 Zornitza Stark Phenotypes for gene: COX4I2 were changed from to Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714
Mitochondrial disease v0.104 COX4I2 Zornitza Stark Publications for gene: COX4I2 were set to
Mitochondrial disease v0.103 COX4I2 Zornitza Stark Mode of inheritance for gene: COX4I2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.102 COX4I2 Zornitza Stark Classified gene: COX4I2 as Red List (low evidence)
Mitochondrial disease v0.102 COX4I2 Zornitza Stark Gene: cox4i2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.101 COX4I2 Zornitza Stark edited their review of gene: COX4I2: Added comment: Glu138Lys present in 3 homozygotes in gnomad, wich is out of keeping for this rare metabolic disorder. Note no other variants reported in this gene since original report in 2009. All variants submitted to ClinVar are VOUS/LB/B.; Changed rating: RED
Mitochondrial disease v0.101 COX4I2 Crystle Lee reviewed gene: COX4I2: Rating: RED; Mode of pathogenicity: Other; Publications: PMID: 19268275; Phenotypes: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis (MIM#612714); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.101 ETFA Bryony Thompson Classified gene: ETFA as Green List (high evidence)
Mitochondrial disease v0.101 ETFA Bryony Thompson Gene: etfa has been classified as Green List (High Evidence).
Mitochondrial disease v0.100 ETFA Bryony Thompson Classified gene: ETFA as Green List (high evidence)
Mitochondrial disease v0.100 ETFA Bryony Thompson Gene: etfa has been classified as Green List (High Evidence).
Mitochondrial disease v0.100 ETFB Bryony Thompson Classified gene: ETFB as Green List (high evidence)
Mitochondrial disease v0.100 ETFB Bryony Thompson Gene: etfb has been classified as Green List (High Evidence).
Mitochondrial disease v0.99 ETFB Bryony Thompson gene: ETFB was added
gene: ETFB was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFB were set to 12815589; 7912128
Phenotypes for gene: ETFB were set to Glutaric acidemia IIB MIM#231680; Multiple acyl-CoA dehydrogenase deficiency (MADD)
Review for gene: ETFB was set to GREEN
Added comment: The enzyme encoded by this gene is required for electron transfer to the main respiratory chain in the mitochondria. >3 cases reported. Very similar phenotypes to ETFA and ETFDH.
Sources: Literature
Mitochondrial disease v0.98 ETFA Bryony Thompson gene: ETFA was added
gene: ETFA was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFA were set to 1882842; 12815589
Phenotypes for gene: ETFA were set to Glutaric acidemia IIA MIM#231680; Multiple acyl-CoA dehydrogenase deficiency (MADD)
Review for gene: ETFA was set to GREEN
Added comment: The enzyme encoded by this gene is required for electron transfer to the main respiratory chain. >3 cases reported. Very similar phenotypes to ETFB and ETFDH.
Sources: Literature
Mitochondrial disease v0.97 ETFDH Bryony Thompson Classified gene: ETFDH as Green List (high evidence)
Mitochondrial disease v0.97 ETFDH Bryony Thompson Gene: etfdh has been classified as Green List (High Evidence).
Mitochondrial disease v0.96 ETFDH Bryony Thompson gene: ETFDH was added
gene: ETFDH was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFDH were set to 19249206; 17412732
Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC MIM#231680; Multiple acyl-CoA dehydrogenase deficiency (MADD)
Review for gene: ETFDH was set to GREEN
Added comment: This gene is required for electron transfer from mitochondrial flavin-containing dehydrogenases to the main respiratory chain. >3 cases reported.
Sources: Expert list
Mitochondrial disease v0.95 ERCC6L2 Bryony Thompson reviewed gene: ERCC6L2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29987015, 24507776; Phenotypes: Bone marrow failure syndrome 2 MIM#615715; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.95 CYCS Bryony Thompson reviewed gene: CYCS: Rating: GREEN; Mode of pathogenicity: None; Publications: 18345000, 24326104, 30051457; Phenotypes: Thrombocytopenia 4 MIM#612004; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disease v0.95 COQ7 Bryony Thompson Classified gene: COQ7 as Green List (high evidence)
Mitochondrial disease v0.95 COQ7 Bryony Thompson Gene: coq7 has been classified as Green List (High Evidence).
Mitochondrial disease v0.94 COQ7 Bryony Thompson gene: COQ7 was added
gene: COQ7 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ7 were set to 31240163
Phenotypes for gene: COQ7 were set to Coenzyme Q10 deficiency, primary, 8 MIM#616733
Review for gene: COQ7 was set to GREEN
Added comment: COQ7 encodes an enzyme that catalyses a critical step in CoQ10 biosynthesis. Three unrelated cases have been reported with this condition.
Sources: Expert list
Mitochondrial disease v0.93 COA7 Bryony Thompson Classified gene: COA7 as Green List (high evidence)
Mitochondrial disease v0.93 COA7 Bryony Thompson Gene: coa7 has been classified as Green List (High Evidence).
Mitochondrial disease v0.92 COA7 Bryony Thompson gene: COA7 was added
gene: COA7 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA7 were set to 30885959; 29718187
Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387
Review for gene: COA7 was set to GREEN
Added comment: COA7 is involved in the assembly of mitochondrial complex IV, which is the terminal component of the mitochondrial respiratory chain. >3 unrelated cases have been reported with the neurological condition.
Sources: Expert list
Mitochondrial disease v0.91 ATP5E Bryony Thompson Classified gene: ATP5E as Amber List (moderate evidence)
Mitochondrial disease v0.91 ATP5E Bryony Thompson Gene: atp5e has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.90 ATP5E Bryony Thompson reviewed gene: ATP5E: Rating: AMBER; Mode of pathogenicity: None; Publications: 20566710, 27626380, 20026007; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.90 APTX Bryony Thompson Classified gene: APTX as Green List (high evidence)
Mitochondrial disease v0.90 APTX Bryony Thompson Gene: aptx has been classified as Green List (High Evidence).
Mitochondrial disease v0.89 APTX Bryony Thompson gene: APTX was added
gene: APTX was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APTX were set to 30986824; 26256098
Phenotypes for gene: APTX were set to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia MIM#208920
Review for gene: APTX was set to GREEN
Added comment: APTX deficiency impairs mitochondrial function, demonstrated in multiple publications and experiments. This is a well-established ataxia gene.
Sources: Expert list
Mitochondrial disease v0.88 PNPT1 Zornitza Stark Marked gene: PNPT1 as ready
Mitochondrial disease v0.88 PNPT1 Zornitza Stark Gene: pnpt1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.88 PNPT1 Zornitza Stark Phenotypes for gene: PNPT1 were changed from to Combined oxidative phosphorylation deficiency 13 (MIM#614932); Deafness, autosomal recessive 70 (MIM#614934)
Mitochondrial disease v0.87 PNPT1 Zornitza Stark Publications for gene: PNPT1 were set to
Mitochondrial disease v0.86 PNPT1 Zornitza Stark Mode of inheritance for gene: PNPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.85 PNPT1 Crystle Lee reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:31752325, PMID: 28645153; Phenotypes: Combined oxidative phosphorylation deficiency 13 (MIM#614932), Deafness, autosomal recessive 70 (MIM#614934); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.85 GFER Zornitza Stark Marked gene: GFER as ready
Mitochondrial disease v0.85 GFER Zornitza Stark Gene: gfer has been classified as Green List (High Evidence).
Mitochondrial disease v0.85 GFER Zornitza Stark Phenotypes for gene: GFER were changed from to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076)
Mitochondrial disease v0.84 GFER Zornitza Stark Publications for gene: GFER were set to
Mitochondrial disease v0.83 GFER Zornitza Stark Mode of inheritance for gene: GFER was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.82 GFER Zornitza Stark reviewed gene: GFER: Rating: GREEN; Mode of pathogenicity: None; Publications: 28155230; Phenotypes: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.82 NDUFA9 Zornitza Stark Marked gene: NDUFA9 as ready
Mitochondrial disease v0.82 NDUFA9 Zornitza Stark Gene: ndufa9 has been classified as Green List (High Evidence).
Mitochondrial disease v0.82 NDUFA9 Zornitza Stark Phenotypes for gene: NDUFA9 were changed from to Mitochondrial complex I deficiency, nuclear type 26
Mitochondrial disease v0.81 NDUFA9 Zornitza Stark Publications for gene: NDUFA9 were set to
Mitochondrial disease v0.80 NDUFA9 Zornitza Stark Mode of inheritance for gene: NDUFA9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.79 NDUFA9 Teresa Zhao reviewed gene: NDUFA9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28671271; Phenotypes: Mitochondrial complex I deficiency, nuclear type 26; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disease v0.79 NDUFA12 Zornitza Stark Marked gene: NDUFA12 as ready
Mitochondrial disease v0.79 NDUFA12 Zornitza Stark Gene: ndufa12 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.79 NDUFA12 Zornitza Stark Phenotypes for gene: NDUFA12 were changed from to Mitochondrial complex I deficiency, nuclear type 23 618244
Mitochondrial disease v0.78 NDUFA12 Zornitza Stark Publications for gene: NDUFA12 were set to
Mitochondrial disease v0.77 NDUFA12 Zornitza Stark Mode of inheritance for gene: NDUFA12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.76 NDUFA12 Zornitza Stark Classified gene: NDUFA12 as Red List (low evidence)
Mitochondrial disease v0.76 NDUFA12 Zornitza Stark Gene: ndufa12 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.75 NDUFA12 Zornitza Stark reviewed gene: NDUFA12: Rating: RED; Mode of pathogenicity: None; Publications: 21617257; Phenotypes: Mitochondrial complex I deficiency, nuclear type 23 618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.75 MTPAP Zornitza Stark Marked gene: MTPAP as ready
Mitochondrial disease v0.75 MTPAP Zornitza Stark Gene: mtpap has been classified as Green List (High Evidence).
Mitochondrial disease v0.75 MTPAP Zornitza Stark Phenotypes for gene: MTPAP were changed from to Spastic ataxia 4, autosomal recessive 613672
Mitochondrial disease v0.74 MTPAP Zornitza Stark Publications for gene: MTPAP were set to
Mitochondrial disease v0.73 MTPAP Zornitza Stark Mode of inheritance for gene: MTPAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.72 MTPAP Zornitza Stark reviewed gene: MTPAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20970105, 25008111, 26319014, 31779033; Phenotypes: Spastic ataxia 4, autosomal recessive 613672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.72 MRPS7 Zornitza Stark Marked gene: MRPS7 as ready
Mitochondrial disease v0.72 MRPS7 Zornitza Stark Gene: mrps7 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.72 MRPS7 Zornitza Stark Mode of inheritance for gene: MRPS7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.71 MRPS7 Zornitza Stark Phenotypes for gene: MRPS7 were changed from to Combined oxidative phosphorylation deficiency 34, MIM# 617872
Mitochondrial disease v0.70 MRPS7 Zornitza Stark Publications for gene: MRPS7 were set to
Mitochondrial disease v0.69 MRPS7 Zornitza Stark Classified gene: MRPS7 as Red List (low evidence)
Mitochondrial disease v0.69 MRPS7 Zornitza Stark Gene: mrps7 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.68 MRPS7 Zornitza Stark reviewed gene: MRPS7: Rating: RED; Mode of pathogenicity: None; Publications: 25556185; Phenotypes: Combined oxidative phosphorylation deficiency 34, MIM# 617872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.68 MRPS23 Zornitza Stark Marked gene: MRPS23 as ready
Mitochondrial disease v0.68 MRPS23 Zornitza Stark Gene: mrps23 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.68 MRPS23 Zornitza Stark Phenotypes for gene: MRPS23 were changed from to Hepatic disease; Combined respiratory chain complex deficiencies
Mitochondrial disease v0.67 MRPS23 Zornitza Stark Publications for gene: MRPS23 were set to
Mitochondrial disease v0.66 MRPS23 Zornitza Stark Mode of inheritance for gene: MRPS23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.65 MRPS23 Zornitza Stark Classified gene: MRPS23 as Red List (low evidence)
Mitochondrial disease v0.65 MRPS23 Zornitza Stark Gene: mrps23 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.64 MRPS23 Zornitza Stark reviewed gene: MRPS23: Rating: RED; Mode of pathogenicity: None; Publications: 26741492; Phenotypes: Hepatic disease, Combined respiratory chain complex deficiencies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.64 MRPL12 Zornitza Stark Marked gene: MRPL12 as ready
Mitochondrial disease v0.64 MRPL12 Zornitza Stark Gene: mrpl12 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.64 MRPL12 Zornitza Stark Phenotypes for gene: MRPL12 were changed from to Growth retardation; neurological deterioration; mitochondrial translation deficiency
Mitochondrial disease v0.63 MRPL12 Zornitza Stark Publications for gene: MRPL12 were set to
Mitochondrial disease v0.62 MRPL12 Zornitza Stark Mode of inheritance for gene: MRPL12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.61 MRPL12 Zornitza Stark Classified gene: MRPL12 as Red List (low evidence)
Mitochondrial disease v0.61 MRPL12 Zornitza Stark Gene: mrpl12 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.60 MRPL12 Zornitza Stark reviewed gene: MRPL12: Rating: RED; Mode of pathogenicity: None; Publications: 23603806; Phenotypes: Growth retardation, neurological deterioration, mitochondrial translation deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.60 LYRM4 Zornitza Stark Marked gene: LYRM4 as ready
Mitochondrial disease v0.60 LYRM4 Zornitza Stark Gene: lyrm4 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.60 LYRM4 Zornitza Stark Phenotypes for gene: LYRM4 were changed from to Combined oxidative phosphorylation deficiency 19, MIM# 615595
Mitochondrial disease v0.59 LYRM4 Zornitza Stark Publications for gene: LYRM4 were set to
Mitochondrial disease v0.59 LYRM4 Zornitza Stark Mode of inheritance for gene: LYRM4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.58 LYRM4 Zornitza Stark Classified gene: LYRM4 as Amber List (moderate evidence)
Mitochondrial disease v0.58 LYRM4 Zornitza Stark Gene: lyrm4 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.57 LYRM4 Zornitza Stark reviewed gene: LYRM4: Rating: AMBER; Mode of pathogenicity: None; Publications: 23814038, 31497476; Phenotypes: Combined oxidative phosphorylation deficiency 19, MIM# 615595; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.57 COX8A Zornitza Stark Marked gene: COX8A as ready
Mitochondrial disease v0.57 COX8A Zornitza Stark Gene: cox8a has been classified as Red List (Low Evidence).
Mitochondrial disease v0.57 COX8A Zornitza Stark Phenotypes for gene: COX8A were changed from to Mitochondrial complex IV deficiency, MIM# 220110
Mitochondrial disease v0.56 COX8A Zornitza Stark Mode of inheritance for gene: COX8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.56 COX8A Zornitza Stark Publications for gene: COX8A were set to
Mitochondrial disease v0.55 COX8A Zornitza Stark Classified gene: COX8A as Red List (low evidence)
Mitochondrial disease v0.55 COX8A Zornitza Stark Gene: cox8a has been classified as Red List (Low Evidence).
Mitochondrial disease v0.54 COX8A Zornitza Stark reviewed gene: COX8A: Rating: RED; Mode of pathogenicity: None; Publications: 26685157; Phenotypes: Mitochondrial complex IV deficiency, MIM# 220110; Mode of inheritance: None
Mitochondrial disease v0.54 COA5 Zornitza Stark Marked gene: COA5 as ready
Mitochondrial disease v0.54 COA5 Zornitza Stark Gene: coa5 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.54 COA5 Zornitza Stark Phenotypes for gene: COA5 were changed from to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500
Mitochondrial disease v0.53 COA5 Zornitza Stark Publications for gene: COA5 were set to
Mitochondrial disease v0.52 COA5 Zornitza Stark Mode of inheritance for gene: COA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.51 COA5 Zornitza Stark Classified gene: COA5 as Red List (low evidence)
Mitochondrial disease v0.51 COA5 Zornitza Stark Gene: coa5 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.50 COA5 Zornitza Stark reviewed gene: COA5: Rating: RED; Mode of pathogenicity: None; Publications: 21457908; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.50 ATAD3A Zornitza Stark Marked gene: ATAD3A as ready
Mitochondrial disease v0.50 ATAD3A Zornitza Stark Gene: atad3a has been classified as Green List (High Evidence).
Mitochondrial disease v0.50 ATAD3A Zornitza Stark Phenotypes for gene: ATAD3A were changed from to Harel-Yoon syndrome, MIM# 617183
Mitochondrial disease v0.49 ATAD3A Zornitza Stark Publications for gene: ATAD3A were set to
Mitochondrial disease v0.48 ATAD3A Zornitza Stark Mode of inheritance for gene: ATAD3A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.47 ATAD3A Zornitza Stark Tag SV/CNV tag was added to gene: ATAD3A.
Mitochondrial disease v0.47 ATAD3A Zornitza Stark reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27640307, 32004445; Phenotypes: Harel-Yoon syndrome 617183; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.47 COA3 Zornitza Stark Marked gene: COA3 as ready
Mitochondrial disease v0.47 COA3 Zornitza Stark Gene: coa3 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.47 COA3 Zornitza Stark Phenotypes for gene: COA3 were changed from to Mitochondrial complex IV deficiency
Mitochondrial disease v0.46 COA3 Zornitza Stark Publications for gene: COA3 were set to
Mitochondrial disease v0.45 COA3 Zornitza Stark Mode of inheritance for gene: COA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.44 COA3 Zornitza Stark Classified gene: COA3 as Red List (low evidence)
Mitochondrial disease v0.44 COA3 Zornitza Stark Gene: coa3 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.43 COA3 Zornitza Stark reviewed gene: COA3: Rating: RED; Mode of pathogenicity: None; Publications: 25604084; Phenotypes: Mitochondrial complex IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.43 LIPT1 Zornitza Stark Marked gene: LIPT1 as ready
Mitochondrial disease v0.43 LIPT1 Zornitza Stark Gene: lipt1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.43 LIPT1 Zornitza Stark Phenotypes for gene: LIPT1 were changed from to Lipoyltransferase 1 deficiency, MIM#616299; Leigh-like presentation
Mitochondrial disease v0.42 LIPT1 Zornitza Stark Mode of inheritance for gene: LIPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.41 LIPT1 Zornitza Stark reviewed gene: LIPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipoyltransferase 1 deficiency, MIM#616299, Leigh-like presentation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.41 LONP1 Zornitza Stark Marked gene: LONP1 as ready
Mitochondrial disease v0.41 LONP1 Zornitza Stark Gene: lonp1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.41 LONP1 Zornitza Stark Phenotypes for gene: LONP1 were changed from to CODAS syndrome, MIM#600373; Mitochondrial cytopathy
Mitochondrial disease v0.40 LONP1 Zornitza Stark Publications for gene: LONP1 were set to
Mitochondrial disease v0.40 LONP1 Zornitza Stark Mode of inheritance for gene: LONP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.39 LONP1 Zornitza Stark reviewed gene: LONP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31636596; Phenotypes: CODAS syndrome, MIM#600373, Mitochondrial cytopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.39 Zornitza Stark Panel name changed from Mitochondrial_AustralianGenomics_VCGS to Mitochondrial disease
Panel types changed to Victorian Clinical Genetics Services; Australian Genomics
Mitochondrial disease v0.38 ATP5A1 Zornitza Stark Mode of inheritance for gene: ATP5A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.37 ATP5A1 Zornitza Stark Classified gene: ATP5A1 as Amber List (moderate evidence)
Mitochondrial disease v0.37 ATP5A1 Zornitza Stark Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.36 ATP5A1 Zornitza Stark reviewed gene: ATP5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23599390; Phenotypes: Combined oxidative phosphorylation deficiency 22 616045, Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.36 C19orf70 Zornitza Stark Marked gene: C19orf70 as ready
Mitochondrial disease v0.36 C19orf70 Zornitza Stark Gene: c19orf70 has been classified as Green List (High Evidence).
Mitochondrial disease v0.36 C19orf70 Zornitza Stark Classified gene: C19orf70 as Green List (high evidence)
Mitochondrial disease v0.36 C19orf70 Zornitza Stark Gene: c19orf70 has been classified as Green List (High Evidence).
Mitochondrial disease v0.35 C19orf70 Zornitza Stark gene: C19orf70 was added
gene: C19orf70 was added to Mitochondrial_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: C19orf70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C19orf70 were set to 29618761; 27623147; 27485409
Phenotypes for gene: C19orf70 were set to Combined oxidative phosphorylation deficiency 37, MIM# 618329
Review for gene: C19orf70 was set to GREEN
Added comment: Three unrelated families reported. HGNC approved name MICOS13.
Sources: Expert list
Mitochondrial disease v0.34 MIPEP Zornitza Stark Marked gene: MIPEP as ready
Mitochondrial disease v0.34 MIPEP Zornitza Stark Gene: mipep has been classified as Green List (High Evidence).
Mitochondrial disease v0.34 MIPEP Zornitza Stark Classified gene: MIPEP as Green List (high evidence)
Mitochondrial disease v0.34 MIPEP Zornitza Stark Gene: mipep has been classified as Green List (High Evidence).
Mitochondrial disease v0.33 MIPEP Zornitza Stark gene: MIPEP was added
gene: MIPEP was added to Mitochondrial_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: MIPEP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MIPEP were set to 27799064
Phenotypes for gene: MIPEP were set to Combined oxidative phosphorylation deficiency 31, MIM# 617228
Review for gene: MIPEP was set to GREEN
Added comment: Four unrelated children reported.
Sources: Expert list
Mitochondrial disease v0.32 MRPS14 Zornitza Stark Marked gene: MRPS14 as ready
Mitochondrial disease v0.32 MRPS14 Zornitza Stark Gene: mrps14 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.32 MRPS14 Zornitza Stark gene: MRPS14 was added
gene: MRPS14 was added to Mitochondrial_AustralianGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: MRPS14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS14 were set to 30358850
Phenotypes for gene: MRPS14 were set to Combined oxidative phosphorylation deficiency 38, MIM# 618378
Review for gene: MRPS14 was set to RED
Added comment: Single individual reported, functional data.
Sources: Expert list
Mitochondrial disease v0.31 PARS2 Zornitza Stark Marked gene: PARS2 as ready
Mitochondrial disease v0.31 PARS2 Zornitza Stark Gene: pars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.31 PARS2 Zornitza Stark Phenotypes for gene: PARS2 were changed from to Epileptic encephalopathy, early infantile, 75, MIM# 618437
Mitochondrial disease v0.30 PARS2 Zornitza Stark Publications for gene: PARS2 were set to
Mitochondrial disease v0.29 PARS2 Zornitza Stark Mode of inheritance for gene: PARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.28 PARS2 Zornitza Stark reviewed gene: PARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29410512, 28077841, 25629079, 29915213; Phenotypes: Epileptic encephalopathy, early infantile, 75, MIM# 618437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.28 UQCRFS1 Zornitza Stark Marked gene: UQCRFS1 as ready
Mitochondrial disease v0.28 UQCRFS1 Zornitza Stark Gene: uqcrfs1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.28 UQCRFS1 Zornitza Stark Classified gene: UQCRFS1 as Green List (high evidence)
Mitochondrial disease v0.28 UQCRFS1 Zornitza Stark Gene: uqcrfs1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.27 UQCRFS1 Zornitza Stark gene: UQCRFS1 was added
gene: UQCRFS1 was added to Mitochondrial_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: UQCRFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCRFS1 were set to 31883641
Phenotypes for gene: UQCRFS1 were set to Mitochondrial Complex III deficiency; lactic acidosis; fetal bradycardia; hypertrophic cardiomyopathy; alopecia totalis
Review for gene: UQCRFS1 was set to GREEN
Added comment: Two unrelated families reported plus functional evidence.
Sources: Literature
Mitochondrial disease v0.26 NDUFAF8 Zornitza Stark Marked gene: NDUFAF8 as ready
Mitochondrial disease v0.26 NDUFAF8 Zornitza Stark Gene: ndufaf8 has been classified as Green List (High Evidence).
Mitochondrial disease v0.26 NDUFAF8 Zornitza Stark Classified gene: NDUFAF8 as Green List (high evidence)
Mitochondrial disease v0.26 NDUFAF8 Zornitza Stark Gene: ndufaf8 has been classified as Green List (High Evidence).
Mitochondrial disease v0.25 NDUFAF8 Zornitza Stark gene: NDUFAF8 was added
gene: NDUFAF8 was added to Mitochondrial_AustralianGenomics_VCGS. Sources: Literature
Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF8 were set to 31866046
Phenotypes for gene: NDUFAF8 were set to Leigh syndrome
Review for gene: NDUFAF8 was set to GREEN
Added comment: Three unrelated individuals with bi-allelic variants in this gene; functional data. Beware recurrent deep intronic splicing variant.
Sources: Literature
Mitochondrial disease v0.24 NDUFB9 Zornitza Stark Phenotypes for gene: NDUFB9 were changed from to Mitochondrial complex I deficiency, nuclear type 24, MIM#618245
Mitochondrial disease v0.24 NDUFB9 Zornitza Stark Marked gene: NDUFB9 as ready
Mitochondrial disease v0.24 NDUFB9 Zornitza Stark Gene: ndufb9 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.24 NDUFB9 Zornitza Stark Mode of inheritance for gene: NDUFB9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.24 NDUFB9 Zornitza Stark Classified gene: NDUFB9 as Amber List (moderate evidence)
Mitochondrial disease v0.24 NDUFB9 Zornitza Stark Gene: ndufb9 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.23 NDUFB9 Zornitza Stark reviewed gene: NDUFB9: Rating: AMBER; Mode of pathogenicity: None; Publications: 22200994; Phenotypes: Mitochondrial complex I deficiency, nuclear type 24, MIM#618245; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.23 MRPS16 Zornitza Stark Marked gene: MRPS16 as ready
Mitochondrial disease v0.23 MRPS16 Zornitza Stark Gene: mrps16 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.23 MRPS16 Zornitza Stark Classified gene: MRPS16 as Amber List (moderate evidence)
Mitochondrial disease v0.23 MRPS16 Zornitza Stark Added comment: Comment on list classification: Amber for mitochondrial.
Mitochondrial disease v0.23 MRPS16 Zornitza Stark Gene: mrps16 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.23 MRPS16 Zornitza Stark Phenotypes for gene: MRPS16 were changed from to Combined oxidative phosphorylation deficiency 2; OMIM #610498
Mitochondrial disease v0.22 MRPS16 Zornitza Stark Publications for gene: MRPS16 were set to
Mitochondrial disease v0.22 MRPS16 Zornitza Stark Mode of inheritance for gene: MRPS16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.22 MRPS16 Zornitza Stark Classified gene: MRPS16 as Amber List (moderate evidence)
Mitochondrial disease v0.22 MRPS16 Zornitza Stark Added comment: Comment on list classification: Amber for mitochondrial.
Mitochondrial disease v0.22 MRPS16 Zornitza Stark Gene: mrps16 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.19 MRPL3 Zornitza Stark Marked gene: MRPL3 as ready
Mitochondrial disease v0.19 MRPL3 Zornitza Stark Gene: mrpl3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.19 MRPL3 Zornitza Stark Phenotypes for gene: MRPL3 were changed from to Combined oxidative phosphorylation deficiency 9; OMIM #614582
Mitochondrial disease v0.18 MRPL3 Zornitza Stark Publications for gene: MRPL3 were set to
Mitochondrial disease v0.17 MRPL3 Zornitza Stark Mode of inheritance for gene: MRPL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.16 MRPL3 Zornitza Stark Classified gene: MRPL3 as Amber List (moderate evidence)
Mitochondrial disease v0.16 MRPL3 Zornitza Stark Gene: mrpl3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.15 MRPL3 Zornitza Stark reviewed gene: MRPL3: Rating: AMBER; Mode of pathogenicity: None; Publications: 27815843, 21786366; Phenotypes: Combined oxidative phosphorylation deficiency 9, OMIM #614582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.15 MARS2 Zornitza Stark Marked gene: MARS2 as ready
Mitochondrial disease v0.15 MARS2 Zornitza Stark Gene: mars2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.15 MARS2 Zornitza Stark Phenotypes for gene: MARS2 were changed from Combined oxidative phosphorylation deficiency 25, OMIM #616430; Spastic ataxia 3, autosomal recessive, OMIM #611390 to Combined oxidative phosphorylation deficiency 25, OMIM #616430; Spastic ataxia 3, autosomal recessive, OMIM #611390
Mitochondrial disease v0.14 MARS2 Zornitza Stark Classified gene: MARS2 as Amber List (moderate evidence)
Mitochondrial disease v0.14 MARS2 Zornitza Stark Gene: mars2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.13 MARS2 Zornitza Stark Publications for gene: MARS2 were set to
Mitochondrial disease v0.13 MARS2 Zornitza Stark Phenotypes for gene: MARS2 were changed from to Combined oxidative phosphorylation deficiency 25, OMIM #616430; Spastic ataxia 3, autosomal recessive, OMIM #611390
Mitochondrial disease v0.12 MARS2 Zornitza Stark Mode of inheritance for gene: MARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.12 MARS2 Zornitza Stark Classified gene: MARS2 as Amber List (moderate evidence)
Mitochondrial disease v0.12 MARS2 Zornitza Stark Gene: mars2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.11 MARS2 Zornitza Stark reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25754315; Phenotypes: Combined oxidative phosphorylation deficiency 25, OMIM #616430, Spastic ataxia 3, autosomal recessive, OMIM #611390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.11 COX4I2 Zornitza Stark reviewed gene: COX4I2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19268275, 22730437; Phenotypes: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.11 COX14 Zornitza Stark Marked gene: COX14 as ready
Mitochondrial disease v0.11 COX14 Zornitza Stark Gene: cox14 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.11 COX14 Zornitza Stark Phenotypes for gene: COX14 were changed from to Mitochondrial complex IV deficiency, MIM#220110
Mitochondrial disease v0.10 COX14 Zornitza Stark Publications for gene: COX14 were set to
Mitochondrial disease v0.9 COX14 Zornitza Stark Mode of inheritance for gene: COX14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.8 COX14 Zornitza Stark Classified gene: COX14 as Amber List (moderate evidence)
Mitochondrial disease v0.8 COX14 Zornitza Stark Gene: cox14 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.7 COX14 Zornitza Stark reviewed gene: COX14: Rating: AMBER; Mode of pathogenicity: None; Publications: 22243966; Phenotypes: Mitochondrial complex IV deficiency, MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.7 CEP89 Zornitza Stark Marked gene: CEP89 as ready
Mitochondrial disease v0.7 CEP89 Zornitza Stark Gene: cep89 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.7 CEP89 Zornitza Stark Phenotypes for gene: CEP89 were changed from to Mitochondrial complex IV deficiency
Mitochondrial disease v0.6 CEP89 Zornitza Stark Publications for gene: CEP89 were set to
Mitochondrial disease v0.5 CEP89 Zornitza Stark Mode of inheritance for gene: CEP89 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.4 CEP89 Zornitza Stark Classified gene: CEP89 as Amber List (moderate evidence)
Mitochondrial disease v0.4 CEP89 Zornitza Stark Gene: cep89 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.3 CEP89 Zornitza Stark reviewed gene: CEP89: Rating: AMBER; Mode of pathogenicity: None; Publications: 23575228; Phenotypes: Mitochondrial complex IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.3 PNPLA4 Zornitza Stark Classified gene: PNPLA4 as Amber List (moderate evidence)
Mitochondrial disease v0.3 PNPLA4 Zornitza Stark Gene: pnpla4 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.3 PNPLA4 Zornitza Stark Marked gene: PNPLA4 as ready
Mitochondrial disease v0.3 PNPLA4 Zornitza Stark Gene: pnpla4 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.3 PNPLA4 Zornitza Stark Classified gene: PNPLA4 as Amber List (moderate evidence)
Mitochondrial disease v0.3 PNPLA4 Zornitza Stark Gene: pnpla4 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.2 PNPLA4 Zornitza Stark Classified gene: PNPLA4 as Amber List (moderate evidence)
Mitochondrial disease v0.2 PNPLA4 Zornitza Stark Gene: pnpla4 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.2 PNPLA4 Zornitza Stark Classified gene: PNPLA4 as Amber List (moderate evidence)
Mitochondrial disease v0.2 PNPLA4 Zornitza Stark Gene: pnpla4 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.1 PNPLA4 Zornitza Stark reviewed gene: PNPLA4: Rating: AMBER; Mode of pathogenicity: None; Publications: 26741492; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mitochondrial disease v0.1 Zornitza Stark Panel name changed from Mitochondrial_AGHA_VCGS to Mitochondrial_AustralianGenomics_VCGS
Mitochondrial disease v0.0 YARS2 Zornitza Stark gene: YARS2 was added
gene: YARS2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: YARS2 was set to Unknown
Mitochondrial disease v0.0 WARS2 Zornitza Stark gene: WARS2 was added
gene: WARS2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: WARS2 was set to Unknown
Mitochondrial disease v0.0 VPS13C Zornitza Stark gene: VPS13C was added
gene: VPS13C was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: VPS13C was set to Unknown
Mitochondrial disease v0.0 VARS2 Zornitza Stark gene: VARS2 was added
gene: VARS2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: VARS2 was set to Unknown
Mitochondrial disease v0.0 UQCRQ Zornitza Stark gene: UQCRQ was added
gene: UQCRQ was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: UQCRQ was set to Unknown
Mitochondrial disease v0.0 UQCRC2 Zornitza Stark gene: UQCRC2 was added
gene: UQCRC2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: UQCRC2 was set to Unknown
Mitochondrial disease v0.0 UQCRB Zornitza Stark gene: UQCRB was added
gene: UQCRB was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: UQCRB was set to Unknown
Mitochondrial disease v0.0 UQCC3 Zornitza Stark gene: UQCC3 was added
gene: UQCC3 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: UQCC3 was set to Unknown
Mitochondrial disease v0.0 UQCC2 Zornitza Stark gene: UQCC2 was added
gene: UQCC2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: UQCC2 was set to Unknown
Mitochondrial disease v0.0 TYMP Zornitza Stark gene: TYMP was added
gene: TYMP was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: TYMP was set to Unknown
Mitochondrial disease v0.0 TXN2 Zornitza Stark gene: TXN2 was added
gene: TXN2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: TXN2 was set to Unknown
Mitochondrial disease v0.0 TWNK Zornitza Stark gene: TWNK was added
gene: TWNK was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: TWNK was set to Unknown
Mitochondrial disease v0.0 TUFM Zornitza Stark gene: TUFM was added
gene: TUFM was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUFM was set to Unknown
Mitochondrial disease v0.0 TTC19 Zornitza Stark gene: TTC19 was added
gene: TTC19 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTC19 was set to Unknown
Mitochondrial disease v0.0 TSFM Zornitza Stark gene: TSFM was added
gene: TSFM was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSFM was set to Unknown
Mitochondrial disease v0.0 TRNT1 Zornitza Stark gene: TRNT1 was added
gene: TRNT1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRNT1 was set to Unknown
Mitochondrial disease v0.0 TRMU Zornitza Stark gene: TRMU was added
gene: TRMU was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRMU was set to Unknown
Mitochondrial disease v0.0 TRMT5 Zornitza Stark gene: TRMT5 was added
gene: TRMT5 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRMT5 was set to Unknown
Mitochondrial disease v0.0 TRMT10C Zornitza Stark gene: TRMT10C was added
gene: TRMT10C was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRMT10C was set to Unknown
Mitochondrial disease v0.0 TRIT1 Zornitza Stark gene: TRIT1 was added
gene: TRIT1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRIT1 was set to Unknown
Mitochondrial disease v0.0 TPK1 Zornitza Stark gene: TPK1 was added
gene: TPK1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: TPK1 was set to Unknown
Mitochondrial disease v0.0 TOP3A Zornitza Stark gene: TOP3A was added
gene: TOP3A was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: TOP3A was set to Unknown
Mitochondrial disease v0.0 TMEM70 Zornitza Stark gene: TMEM70 was added
gene: TMEM70 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM70 was set to Unknown
Mitochondrial disease v0.0 TMEM126B Zornitza Stark gene: TMEM126B was added
gene: TMEM126B was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM126B was set to Unknown
Mitochondrial disease v0.0 TK2 Zornitza Stark gene: TK2 was added
gene: TK2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: TK2 was set to Unknown
Mitochondrial disease v0.0 TIMM8A Zornitza Stark gene: TIMM8A was added
gene: TIMM8A was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: TIMM8A was set to Unknown
Mitochondrial disease v0.0 TIMM50 Zornitza Stark gene: TIMM50 was added
gene: TIMM50 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: TIMM50 was set to Unknown
Mitochondrial disease v0.0 TAZ Zornitza Stark gene: TAZ was added
gene: TAZ was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: TAZ was set to Unknown
Mitochondrial disease v0.0 TARS2 Zornitza Stark gene: TARS2 was added
gene: TARS2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: TARS2 was set to Unknown
Mitochondrial disease v0.0 TACO1 Zornitza Stark gene: TACO1 was added
gene: TACO1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: TACO1 was set to Unknown
Mitochondrial disease v0.0 SURF1 Zornitza Stark gene: SURF1 was added
gene: SURF1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: SURF1 was set to Unknown
Mitochondrial disease v0.0 SUCLG1 Zornitza Stark gene: SUCLG1 was added
gene: SUCLG1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: SUCLG1 was set to Unknown
Mitochondrial disease v0.0 SUCLA2 Zornitza Stark gene: SUCLA2 was added
gene: SUCLA2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: SUCLA2 was set to Unknown
Mitochondrial disease v0.0 STAT2 Zornitza Stark gene: STAT2 was added
gene: STAT2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: STAT2 was set to Unknown
Mitochondrial disease v0.0 SPG7 Zornitza Stark gene: SPG7 was added
gene: SPG7 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: SPG7 was set to Unknown
Mitochondrial disease v0.0 SLC25A46 Zornitza Stark gene: SLC25A46 was added
gene: SLC25A46 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A46 was set to Unknown
Mitochondrial disease v0.0 SLC25A42 Zornitza Stark gene: SLC25A42 was added
gene: SLC25A42 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A42 was set to Unknown
Mitochondrial disease v0.0 SLC25A4 Zornitza Stark gene: SLC25A4 was added
gene: SLC25A4 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A4 was set to Unknown
Mitochondrial disease v0.0 SLC25A3 Zornitza Stark gene: SLC25A3 was added
gene: SLC25A3 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A3 was set to Unknown
Mitochondrial disease v0.0 SLC25A26 Zornitza Stark gene: SLC25A26 was added
gene: SLC25A26 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A26 was set to Unknown
Mitochondrial disease v0.0 SLC25A19 Zornitza Stark gene: SLC25A19 was added
gene: SLC25A19 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A19 was set to Unknown
Mitochondrial disease v0.0 SLC25A12 Zornitza Stark gene: SLC25A12 was added
gene: SLC25A12 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A12 was set to Unknown
Mitochondrial disease v0.0 SLC25A1 Zornitza Stark gene: SLC25A1 was added
gene: SLC25A1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A1 was set to Unknown
Mitochondrial disease v0.0 SLC19A3 Zornitza Stark gene: SLC19A3 was added
gene: SLC19A3 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC19A3 was set to Unknown
Mitochondrial disease v0.0 SLC19A2 Zornitza Stark gene: SLC19A2 was added
gene: SLC19A2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC19A2 was set to Unknown
Mitochondrial disease v0.0 SFXN4 Zornitza Stark gene: SFXN4 was added
gene: SFXN4 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: SFXN4 was set to Unknown
Mitochondrial disease v0.0 SERAC1 Zornitza Stark gene: SERAC1 was added
gene: SERAC1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: SERAC1 was set to Unknown
Mitochondrial disease v0.0 SDHD Zornitza Stark gene: SDHD was added
gene: SDHD was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: SDHD was set to Unknown
Mitochondrial disease v0.0 SDHB Zornitza Stark gene: SDHB was added
gene: SDHB was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: SDHB was set to Unknown
Mitochondrial disease v0.0 SDHAF2 Zornitza Stark gene: SDHAF2 was added
gene: SDHAF2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: SDHAF2 was set to Unknown
Mitochondrial disease v0.0 SDHAF1 Zornitza Stark gene: SDHAF1 was added
gene: SDHAF1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: SDHAF1 was set to Unknown
Mitochondrial disease v0.0 SDHA Zornitza Stark gene: SDHA was added
gene: SDHA was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: SDHA was set to Unknown
Mitochondrial disease v0.0 SCO2 Zornitza Stark gene: SCO2 was added
gene: SCO2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: SCO2 was set to Unknown
Mitochondrial disease v0.0 SCO1 Zornitza Stark gene: SCO1 was added
gene: SCO1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: SCO1 was set to Unknown
Mitochondrial disease v0.0 SARS2 Zornitza Stark gene: SARS2 was added
gene: SARS2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: SARS2 was set to Unknown
Mitochondrial disease v0.0 RTN4IP1 Zornitza Stark gene: RTN4IP1 was added
gene: RTN4IP1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: RTN4IP1 was set to Unknown
Mitochondrial disease v0.0 RRM2B Zornitza Stark gene: RRM2B was added
gene: RRM2B was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: RRM2B was set to Unknown
Mitochondrial disease v0.0 RNASEH1 Zornitza Stark gene: RNASEH1 was added
gene: RNASEH1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: RNASEH1 was set to Unknown
Mitochondrial disease v0.0 RMND1 Zornitza Stark gene: RMND1 was added
gene: RMND1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: RMND1 was set to Unknown
Mitochondrial disease v0.0 RARS2 Zornitza Stark gene: RARS2 was added
gene: RARS2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: RARS2 was set to Unknown
Mitochondrial disease v0.0 QRSL1 Zornitza Stark gene: QRSL1 was added
gene: QRSL1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: QRSL1 was set to Unknown
Mitochondrial disease v0.0 PUS1 Zornitza Stark gene: PUS1 was added
gene: PUS1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: PUS1 was set to Unknown
Mitochondrial disease v0.0 PPA2 Zornitza Stark gene: PPA2 was added
gene: PPA2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: PPA2 was set to Unknown
Mitochondrial disease v0.0 POLG2 Zornitza Stark gene: POLG2 was added
gene: POLG2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: POLG2 was set to Unknown
Mitochondrial disease v0.0 POLG Zornitza Stark gene: POLG was added
gene: POLG was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: POLG was set to Unknown
Mitochondrial disease v0.0 PNPT1 Zornitza Stark gene: PNPT1 was added
gene: PNPT1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: PNPT1 was set to Unknown
Mitochondrial disease v0.0 PNPLA8 Zornitza Stark gene: PNPLA8 was added
gene: PNPLA8 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: PNPLA8 was set to Unknown
Mitochondrial disease v0.0 PNPLA4 Zornitza Stark gene: PNPLA4 was added
gene: PNPLA4 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: PNPLA4 was set to Unknown
Mitochondrial disease v0.0 PMPCB Zornitza Stark gene: PMPCB was added
gene: PMPCB was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: PMPCB was set to Unknown
Mitochondrial disease v0.0 PMPCA Zornitza Stark gene: PMPCA was added
gene: PMPCA was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: PMPCA was set to Unknown
Mitochondrial disease v0.0 PET100 Zornitza Stark gene: PET100 was added
gene: PET100 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: PET100 was set to Unknown
Mitochondrial disease v0.0 PDSS2 Zornitza Stark gene: PDSS2 was added
gene: PDSS2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: PDSS2 was set to Unknown
Mitochondrial disease v0.0 PDSS1 Zornitza Stark gene: PDSS1 was added
gene: PDSS1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: PDSS1 was set to Unknown
Mitochondrial disease v0.0 PDP1 Zornitza Stark gene: PDP1 was added
gene: PDP1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: PDP1 was set to Unknown
Mitochondrial disease v0.0 PDK3 Zornitza Stark gene: PDK3 was added
gene: PDK3 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: PDK3 was set to Unknown
Mitochondrial disease v0.0 PDHX Zornitza Stark gene: PDHX was added
gene: PDHX was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: PDHX was set to Unknown
Mitochondrial disease v0.0 PDHB Zornitza Stark gene: PDHB was added
gene: PDHB was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: PDHB was set to Unknown
Mitochondrial disease v0.0 PDHA1 Zornitza Stark gene: PDHA1 was added
gene: PDHA1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: PDHA1 was set to Unknown
Mitochondrial disease v0.0 PARS2 Zornitza Stark gene: PARS2 was added
gene: PARS2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: PARS2 was set to Unknown
Mitochondrial disease v0.0 OPA3 Zornitza Stark gene: OPA3 was added
gene: OPA3 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: OPA3 was set to Unknown
Mitochondrial disease v0.0 OPA1 Zornitza Stark gene: OPA1 was added
gene: OPA1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: OPA1 was set to Unknown
Mitochondrial disease v0.0 NUBPL Zornitza Stark gene: NUBPL was added
gene: NUBPL was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: NUBPL was set to Unknown
Mitochondrial disease v0.0 NFU1 Zornitza Stark gene: NFU1 was added
gene: NFU1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: NFU1 was set to Unknown
Mitochondrial disease v0.0 NFS1 Zornitza Stark gene: NFS1 was added
gene: NFS1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: NFS1 was set to Unknown
Mitochondrial disease v0.0 NDUFV2 Zornitza Stark gene: NDUFV2 was added
gene: NDUFV2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFV2 was set to Unknown
Mitochondrial disease v0.0 NDUFV1 Zornitza Stark gene: NDUFV1 was added
gene: NDUFV1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFV1 was set to Unknown
Mitochondrial disease v0.0 NDUFS8 Zornitza Stark gene: NDUFS8 was added
gene: NDUFS8 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFS8 was set to Unknown
Mitochondrial disease v0.0 NDUFS7 Zornitza Stark gene: NDUFS7 was added
gene: NDUFS7 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFS7 was set to Unknown
Mitochondrial disease v0.0 NDUFS6 Zornitza Stark gene: NDUFS6 was added
gene: NDUFS6 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFS6 was set to Unknown
Mitochondrial disease v0.0 NDUFS4 Zornitza Stark gene: NDUFS4 was added
gene: NDUFS4 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFS4 was set to Unknown
Mitochondrial disease v0.0 NDUFS3 Zornitza Stark gene: NDUFS3 was added
gene: NDUFS3 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFS3 was set to Unknown
Mitochondrial disease v0.0 NDUFS2 Zornitza Stark gene: NDUFS2 was added
gene: NDUFS2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFS2 was set to Unknown
Mitochondrial disease v0.0 NDUFS1 Zornitza Stark gene: NDUFS1 was added
gene: NDUFS1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFS1 was set to Unknown
Mitochondrial disease v0.0 NDUFB9 Zornitza Stark gene: NDUFB9 was added
gene: NDUFB9 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFB9 was set to Unknown
Mitochondrial disease v0.0 NDUFB8 Zornitza Stark gene: NDUFB8 was added
gene: NDUFB8 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFB8 was set to Unknown
Mitochondrial disease v0.0 NDUFB3 Zornitza Stark gene: NDUFB3 was added
gene: NDUFB3 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFB3 was set to Unknown
Mitochondrial disease v0.0 NDUFB11 Zornitza Stark gene: NDUFB11 was added
gene: NDUFB11 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFB11 was set to Unknown
Mitochondrial disease v0.0 NDUFAF6 Zornitza Stark gene: NDUFAF6 was added
gene: NDUFAF6 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFAF6 was set to Unknown
Mitochondrial disease v0.0 NDUFAF5 Zornitza Stark gene: NDUFAF5 was added
gene: NDUFAF5 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFAF5 was set to Unknown
Mitochondrial disease v0.0 NDUFAF4 Zornitza Stark gene: NDUFAF4 was added
gene: NDUFAF4 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFAF4 was set to Unknown
Mitochondrial disease v0.0 NDUFAF3 Zornitza Stark gene: NDUFAF3 was added
gene: NDUFAF3 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFAF3 was set to Unknown
Mitochondrial disease v0.0 NDUFAF2 Zornitza Stark gene: NDUFAF2 was added
gene: NDUFAF2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFAF2 was set to Unknown
Mitochondrial disease v0.0 NDUFAF1 Zornitza Stark gene: NDUFAF1 was added
gene: NDUFAF1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFAF1 was set to Unknown
Mitochondrial disease v0.0 NDUFA9 Zornitza Stark gene: NDUFA9 was added
gene: NDUFA9 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFA9 was set to Unknown
Mitochondrial disease v0.0 NDUFA4 Zornitza Stark gene: NDUFA4 was added
gene: NDUFA4 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFA4 was set to Unknown
Mitochondrial disease v0.0 NDUFA2 Zornitza Stark gene: NDUFA2 was added
gene: NDUFA2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFA2 was set to Unknown
Mitochondrial disease v0.0 NDUFA13 Zornitza Stark gene: NDUFA13 was added
gene: NDUFA13 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFA13 was set to Unknown
Mitochondrial disease v0.0 NDUFA12 Zornitza Stark gene: NDUFA12 was added
gene: NDUFA12 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFA12 was set to Unknown
Mitochondrial disease v0.0 NDUFA11 Zornitza Stark gene: NDUFA11 was added
gene: NDUFA11 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFA11 was set to Unknown
Mitochondrial disease v0.0 NDUFA10 Zornitza Stark gene: NDUFA10 was added
gene: NDUFA10 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFA10 was set to Unknown
Mitochondrial disease v0.0 NDUFA1 Zornitza Stark gene: NDUFA1 was added
gene: NDUFA1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFA1 was set to Unknown
Mitochondrial disease v0.0 NAXE Zornitza Stark gene: NAXE was added
gene: NAXE was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: NAXE was set to Unknown
Mitochondrial disease v0.0 NARS2 Zornitza Stark gene: NARS2 was added
gene: NARS2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: NARS2 was set to Unknown
Mitochondrial disease v0.0 MTPAP Zornitza Stark gene: MTPAP was added
gene: MTPAP was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: MTPAP was set to Unknown
Mitochondrial disease v0.0 MTO1 Zornitza Stark gene: MTO1 was added
gene: MTO1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: MTO1 was set to Unknown
Mitochondrial disease v0.0 MTFMT Zornitza Stark gene: MTFMT was added
gene: MTFMT was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: MTFMT was set to Unknown
Mitochondrial disease v0.0 MRPS7 Zornitza Stark gene: MRPS7 was added
gene: MRPS7 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: MRPS7 was set to Unknown
Mitochondrial disease v0.0 MRPS34 Zornitza Stark gene: MRPS34 was added
gene: MRPS34 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: MRPS34 was set to Unknown
Mitochondrial disease v0.0 MRPS23 Zornitza Stark gene: MRPS23 was added
gene: MRPS23 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: MRPS23 was set to Unknown
Mitochondrial disease v0.0 MRPS22 Zornitza Stark gene: MRPS22 was added
gene: MRPS22 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: MRPS22 was set to Unknown
Mitochondrial disease v0.0 MRPS2 Zornitza Stark gene: MRPS2 was added
gene: MRPS2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: MRPS2 was set to Unknown
Mitochondrial disease v0.0 MRPS16 Zornitza Stark gene: MRPS16 was added
gene: MRPS16 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: MRPS16 was set to Unknown
Mitochondrial disease v0.0 MRPL44 Zornitza Stark gene: MRPL44 was added
gene: MRPL44 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: MRPL44 was set to Unknown
Mitochondrial disease v0.0 MRPL3 Zornitza Stark gene: MRPL3 was added
gene: MRPL3 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: MRPL3 was set to Unknown
Mitochondrial disease v0.0 MRPL12 Zornitza Stark gene: MRPL12 was added
gene: MRPL12 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: MRPL12 was set to Unknown
Mitochondrial disease v0.0 MPV17 Zornitza Stark gene: MPV17 was added
gene: MPV17 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: MPV17 was set to Unknown
Mitochondrial disease v0.0 MPC1 Zornitza Stark gene: MPC1 was added
gene: MPC1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: MPC1 was set to Unknown
Mitochondrial disease v0.0 MICU1 Zornitza Stark gene: MICU1 was added
gene: MICU1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: MICU1 was set to Unknown
Mitochondrial disease v0.0 MGME1 Zornitza Stark gene: MGME1 was added
gene: MGME1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: MGME1 was set to Unknown
Mitochondrial disease v0.0 MFN2 Zornitza Stark gene: MFN2 was added
gene: MFN2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: MFN2 was set to Unknown
Mitochondrial disease v0.0 MFF Zornitza Stark gene: MFF was added
gene: MFF was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: MFF was set to Unknown
Mitochondrial disease v0.0 MECR Zornitza Stark gene: MECR was added
gene: MECR was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: MECR was set to Unknown
Mitochondrial disease v0.0 MDH2 Zornitza Stark gene: MDH2 was added
gene: MDH2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: MDH2 was set to Unknown
Mitochondrial disease v0.0 MARS2 Zornitza Stark gene: MARS2 was added
gene: MARS2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: MARS2 was set to Unknown
Mitochondrial disease v0.0 LYRM7 Zornitza Stark gene: LYRM7 was added
gene: LYRM7 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: LYRM7 was set to Unknown
Mitochondrial disease v0.0 LYRM4 Zornitza Stark gene: LYRM4 was added
gene: LYRM4 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: LYRM4 was set to Unknown
Mitochondrial disease v0.0 LRPPRC Zornitza Stark gene: LRPPRC was added
gene: LRPPRC was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: LRPPRC was set to Unknown
Mitochondrial disease v0.0 LONP1 Zornitza Stark gene: LONP1 was added
gene: LONP1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: LONP1 was set to Unknown
Mitochondrial disease v0.0 LIPT2 Zornitza Stark gene: LIPT2 was added
gene: LIPT2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: LIPT2 was set to Unknown
Mitochondrial disease v0.0 LIPT1 Zornitza Stark gene: LIPT1 was added
gene: LIPT1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: LIPT1 was set to Unknown
Mitochondrial disease v0.0 LIAS Zornitza Stark gene: LIAS was added
gene: LIAS was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: LIAS was set to Unknown
Mitochondrial disease v0.0 LARS2 Zornitza Stark gene: LARS2 was added
gene: LARS2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: LARS2 was set to Unknown
Mitochondrial disease v0.0 KARS Zornitza Stark gene: KARS was added
gene: KARS was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: KARS was set to Unknown
Mitochondrial disease v0.0 ISCU Zornitza Stark gene: ISCU was added
gene: ISCU was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: ISCU was set to Unknown
Mitochondrial disease v0.0 ISCA2 Zornitza Stark gene: ISCA2 was added
gene: ISCA2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: ISCA2 was set to Unknown
Mitochondrial disease v0.0 IDH3B Zornitza Stark gene: IDH3B was added
gene: IDH3B was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: IDH3B was set to Unknown
Mitochondrial disease v0.0 IBA57 Zornitza Stark gene: IBA57 was added
gene: IBA57 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: IBA57 was set to Unknown
Mitochondrial disease v0.0 IARS2 Zornitza Stark gene: IARS2 was added
gene: IARS2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: IARS2 was set to Unknown
Mitochondrial disease v0.0 HSPD1 Zornitza Stark gene: HSPD1 was added
gene: HSPD1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: HSPD1 was set to Unknown
Mitochondrial disease v0.0 HSD17B10 Zornitza Stark gene: HSD17B10 was added
gene: HSD17B10 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: HSD17B10 was set to Unknown
Mitochondrial disease v0.0 HIBCH Zornitza Stark gene: HIBCH was added
gene: HIBCH was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: HIBCH was set to Unknown
Mitochondrial disease v0.0 HCCS Zornitza Stark gene: HCCS was added
gene: HCCS was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: HCCS was set to Unknown
Mitochondrial disease v0.0 HARS2 Zornitza Stark gene: HARS2 was added
gene: HARS2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: HARS2 was set to Unknown
Mitochondrial disease v0.0 GTPBP3 Zornitza Stark gene: GTPBP3 was added
gene: GTPBP3 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: GTPBP3 was set to Unknown
Mitochondrial disease v0.0 GLRX5 Zornitza Stark gene: GLRX5 was added
gene: GLRX5 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLRX5 was set to Unknown
Mitochondrial disease v0.0 GFM2 Zornitza Stark gene: GFM2 was added
gene: GFM2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: GFM2 was set to Unknown
Mitochondrial disease v0.0 GFM1 Zornitza Stark gene: GFM1 was added
gene: GFM1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: GFM1 was set to Unknown
Mitochondrial disease v0.0 GFER Zornitza Stark gene: GFER was added
gene: GFER was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: GFER was set to Unknown
Mitochondrial disease v0.0 GARS Zornitza Stark gene: GARS was added
gene: GARS was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: GARS was set to Unknown
Mitochondrial disease v0.0 FXN Zornitza Stark gene: FXN was added
gene: FXN was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: FXN was set to Unknown
Mitochondrial disease v0.0 FOXRED1 Zornitza Stark gene: FOXRED1 was added
gene: FOXRED1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXRED1 was set to Unknown
Mitochondrial disease v0.0 FLAD1 Zornitza Stark gene: FLAD1 was added
gene: FLAD1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: FLAD1 was set to Unknown
Mitochondrial disease v0.0 FH Zornitza Stark gene: FH was added
gene: FH was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: FH was set to Unknown
Mitochondrial disease v0.0 FDXR Zornitza Stark gene: FDXR was added
gene: FDXR was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: FDXR was set to Unknown
Mitochondrial disease v0.0 FDX2 Zornitza Stark gene: FDX2 was added
gene: FDX2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: FDX2 was set to Unknown
Mitochondrial disease v0.0 FBXL4 Zornitza Stark gene: FBXL4 was added
gene: FBXL4 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: FBXL4 was set to Unknown
Mitochondrial disease v0.0 FASTKD2 Zornitza Stark gene: FASTKD2 was added
gene: FASTKD2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: FASTKD2 was set to Unknown
Mitochondrial disease v0.0 FARS2 Zornitza Stark gene: FARS2 was added
gene: FARS2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: FARS2 was set to Unknown
Mitochondrial disease v0.0 ETHE1 Zornitza Stark gene: ETHE1 was added
gene: ETHE1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: ETHE1 was set to Unknown
Mitochondrial disease v0.0 ERCC6L2 Zornitza Stark gene: ERCC6L2 was added
gene: ERCC6L2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC6L2 was set to Unknown
Mitochondrial disease v0.0 ELAC2 Zornitza Stark gene: ELAC2 was added
gene: ELAC2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: ELAC2 was set to Unknown
Mitochondrial disease v0.0 ECHS1 Zornitza Stark gene: ECHS1 was added
gene: ECHS1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: ECHS1 was set to Unknown
Mitochondrial disease v0.0 EARS2 Zornitza Stark gene: EARS2 was added
gene: EARS2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: EARS2 was set to Unknown
Mitochondrial disease v0.0 DNM1L Zornitza Stark gene: DNM1L was added
gene: DNM1L was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNM1L was set to Unknown
Mitochondrial disease v0.0 DNAJC19 Zornitza Stark gene: DNAJC19 was added
gene: DNAJC19 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAJC19 was set to Unknown
Mitochondrial disease v0.0 DNA2 Zornitza Stark gene: DNA2 was added
gene: DNA2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNA2 was set to Unknown
Mitochondrial disease v0.0 DLD Zornitza Stark gene: DLD was added
gene: DLD was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: DLD was set to Unknown
Mitochondrial disease v0.0 DLAT Zornitza Stark gene: DLAT was added
gene: DLAT was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: DLAT was set to Unknown
Mitochondrial disease v0.0 DGUOK Zornitza Stark gene: DGUOK was added
gene: DGUOK was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: DGUOK was set to Unknown
Mitochondrial disease v0.0 DARS2 Zornitza Stark gene: DARS2 was added
gene: DARS2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: DARS2 was set to Unknown
Mitochondrial disease v0.0 CYCS Zornitza Stark gene: CYCS was added
gene: CYCS was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: CYCS was set to Unknown
Mitochondrial disease v0.0 CYC1 Zornitza Stark gene: CYC1 was added
gene: CYC1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: CYC1 was set to Unknown
Mitochondrial disease v0.0 COX8A Zornitza Stark gene: COX8A was added
gene: COX8A was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: COX8A was set to Unknown
Mitochondrial disease v0.0 COX7B Zornitza Stark gene: COX7B was added
gene: COX7B was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: COX7B was set to Unknown
Mitochondrial disease v0.0 COX6B1 Zornitza Stark gene: COX6B1 was added
gene: COX6B1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: COX6B1 was set to Unknown
Mitochondrial disease v0.0 COX6A1 Zornitza Stark gene: COX6A1 was added
gene: COX6A1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: COX6A1 was set to Unknown
Mitochondrial disease v0.0 COX4I2 Zornitza Stark gene: COX4I2 was added
gene: COX4I2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: COX4I2 was set to Unknown
Mitochondrial disease v0.0 COX20 Zornitza Stark gene: COX20 was added
gene: COX20 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: COX20 was set to Unknown
Mitochondrial disease v0.0 COX15 Zornitza Stark gene: COX15 was added
gene: COX15 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: COX15 was set to Unknown
Mitochondrial disease v0.0 COX14 Zornitza Stark gene: COX14 was added
gene: COX14 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: COX14 was set to Unknown
Mitochondrial disease v0.0 COX10 Zornitza Stark gene: COX10 was added
gene: COX10 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: COX10 was set to Unknown
Mitochondrial disease v0.0 COQ9 Zornitza Stark gene: COQ9 was added
gene: COQ9 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: COQ9 was set to Unknown
Mitochondrial disease v0.0 COQ8B Zornitza Stark gene: COQ8B was added
gene: COQ8B was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: COQ8B was set to Unknown
Mitochondrial disease v0.0 COQ8A Zornitza Stark gene: COQ8A was added
gene: COQ8A was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: COQ8A was set to Unknown
Mitochondrial disease v0.0 COQ6 Zornitza Stark gene: COQ6 was added
gene: COQ6 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: COQ6 was set to Unknown
Mitochondrial disease v0.0 COQ4 Zornitza Stark gene: COQ4 was added
gene: COQ4 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: COQ4 was set to Unknown
Mitochondrial disease v0.0 COQ2 Zornitza Stark gene: COQ2 was added
gene: COQ2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: COQ2 was set to Unknown
Mitochondrial disease v0.0 COA6 Zornitza Stark gene: COA6 was added
gene: COA6 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: COA6 was set to Unknown
Mitochondrial disease v0.0 COA5 Zornitza Stark gene: COA5 was added
gene: COA5 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: COA5 was set to Unknown
Mitochondrial disease v0.0 COA3 Zornitza Stark gene: COA3 was added
gene: COA3 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: COA3 was set to Unknown
Mitochondrial disease v0.0 CLPP Zornitza Stark gene: CLPP was added
gene: CLPP was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: CLPP was set to Unknown
Mitochondrial disease v0.0 CLPB Zornitza Stark gene: CLPB was added
gene: CLPB was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: CLPB was set to Unknown
Mitochondrial disease v0.0 CHCHD10 Zornitza Stark gene: CHCHD10 was added
gene: CHCHD10 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHCHD10 was set to Unknown
Mitochondrial disease v0.0 CEP89 Zornitza Stark gene: CEP89 was added
gene: CEP89 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: CEP89 was set to Unknown
Mitochondrial disease v0.0 CARS2 Zornitza Stark gene: CARS2 was added
gene: CARS2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: CARS2 was set to Unknown
Mitochondrial disease v0.0 C1QBP Zornitza Stark gene: C1QBP was added
gene: C1QBP was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: C1QBP was set to Unknown
Mitochondrial disease v0.0 C12orf65 Zornitza Stark gene: C12orf65 was added
gene: C12orf65 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: C12orf65 was set to Unknown
Mitochondrial disease v0.0 BOLA3 Zornitza Stark gene: BOLA3 was added
gene: BOLA3 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: BOLA3 was set to Unknown
Mitochondrial disease v0.0 BCS1L Zornitza Stark gene: BCS1L was added
gene: BCS1L was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: BCS1L was set to Unknown
Mitochondrial disease v0.0 ATPAF2 Zornitza Stark gene: ATPAF2 was added
gene: ATPAF2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATPAF2 was set to Unknown
Mitochondrial disease v0.0 ATP5E Zornitza Stark gene: ATP5E was added
gene: ATP5E was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATP5E was set to Unknown
Mitochondrial disease v0.0 ATP5D Zornitza Stark gene: ATP5D was added
gene: ATP5D was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATP5D was set to Unknown
Mitochondrial disease v0.0 ATP5A1 Zornitza Stark gene: ATP5A1 was added
gene: ATP5A1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATP5A1 was set to Unknown
Mitochondrial disease v0.0 ATAD3A Zornitza Stark gene: ATAD3A was added
gene: ATAD3A was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATAD3A was set to Unknown
Mitochondrial disease v0.0 APOPT1 Zornitza Stark gene: APOPT1 was added
gene: APOPT1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: APOPT1 was set to Unknown
Mitochondrial disease v0.0 AIFM1 Zornitza Stark gene: AIFM1 was added
gene: AIFM1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: AIFM1 was set to Unknown
Mitochondrial disease v0.0 AGK Zornitza Stark gene: AGK was added
gene: AGK was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: AGK was set to Unknown
Mitochondrial disease v0.0 AFG3L2 Zornitza Stark gene: AFG3L2 was added
gene: AFG3L2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: AFG3L2 was set to Unknown
Mitochondrial disease v0.0 ACO2 Zornitza Stark gene: ACO2 was added
gene: ACO2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: ACO2 was set to Unknown
Mitochondrial disease v0.0 ACAD9 Zornitza Stark gene: ACAD9 was added
gene: ACAD9 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: ACAD9 was set to Unknown
Mitochondrial disease v0.0 ABCB7 Zornitza Stark gene: ABCB7 was added
gene: ABCB7 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: ABCB7 was set to Unknown
Mitochondrial disease v0.0 ABAT Zornitza Stark gene: ABAT was added
gene: ABAT was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: ABAT was set to Unknown
Mitochondrial disease v0.0 AARS2 Zornitza Stark gene: AARS2 was added
gene: AARS2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services
Mode of inheritance for gene: AARS2 was set to Unknown
Mitochondrial disease v0.0 Zornitza Stark Added panel Mitochondrial_AGHA_VCGS