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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