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Possible mitochondrial disorder - nuclear genes v3.105 SLIRP Achchuthan Shanmugasundram Classified gene: SLIRP as Red List (low evidence)
Possible mitochondrial disorder - nuclear genes v3.105 SLIRP Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is one case with compound heterozygous SLIRP variants and the gene should be rated red.
Possible mitochondrial disorder - nuclear genes v3.105 SLIRP Achchuthan Shanmugasundram Gene: slirp has been classified as Red List (Low Evidence).
Possible mitochondrial disorder - nuclear genes v3.104 SLIRP Achchuthan Shanmugasundram reviewed gene: SLIRP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v3.103 ATP5E Sarah Leigh Tag new-gene-name was removed from gene: ATP5E.
Tag Q4_23_promote_green was removed from gene: ATP5E.
Tag Q4_23_NHS_review was removed from gene: ATP5E.
Tag watchlist tag was added to gene: ATP5E.
Tag Q1_24_promote_green tag was added to gene: ATP5E.
Tag Q1_24_NHS_review tag was added to gene: ATP5E.
Possible mitochondrial disorder - nuclear genes v3.103 ATP5E Sarah Leigh changed review comment from: PMID: 34954817 reports two further cases of OMIM: 614053 who are both homozygous for ATP5E (new gene name: ATP5F1E) variant c.35A>G, p.Tyr12Cys (rs387906929), previously reported in PubMed: 20566710. Personal communication with the lead author of PMID: 34954817, confirmed that none of these cases were related to one another and so represent independent occurrences of this variant.; to: PMID: 34954817 reports two further cases of OMIM: 614053 who are both homozygous for ATP5E (new gene name: ATP5F1E) variant c.35A>G, p.Tyr12Cys (rs387906929), previously reported in PubMed: 20566710. Personal communication with the lead author of PMID: 34954817, confirmed that none of these cases were related to one another and so represent independent occurrences of this variant. In addition, PMID: 34954817 reports significantly reduced ATPase amounts associated with the ATP5F1E variants.
Possible mitochondrial disorder - nuclear genes v3.103 G6PC Arina Puzriakova Phenotypes for gene: G6PC were changed from Glycogen storage disease Ia, 232200 to Glycogen storage disease Ia, OMIM:232200
Possible mitochondrial disorder - nuclear genes v3.102 ATPAF1 Arina Puzriakova Classified gene: ATPAF1 as Red List (low evidence)
Possible mitochondrial disorder - nuclear genes v3.102 ATPAF1 Arina Puzriakova Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.
Possible mitochondrial disorder - nuclear genes v3.102 ATPAF1 Arina Puzriakova Gene: atpaf1 has been classified as Red List (Low Evidence).
Possible mitochondrial disorder - nuclear genes v3.101 COA4 Arina Puzriakova Classified gene: COA4 as Red List (low evidence)
Possible mitochondrial disorder - nuclear genes v3.101 COA4 Arina Puzriakova Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.
Possible mitochondrial disorder - nuclear genes v3.101 COA4 Arina Puzriakova Gene: coa4 has been classified as Red List (Low Evidence).
Possible mitochondrial disorder - nuclear genes v3.100 COX17 Arina Puzriakova Classified gene: COX17 as Red List (low evidence)
Possible mitochondrial disorder - nuclear genes v3.100 COX17 Arina Puzriakova Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.
Possible mitochondrial disorder - nuclear genes v3.100 COX17 Arina Puzriakova Gene: cox17 has been classified as Red List (Low Evidence).
Possible mitochondrial disorder - nuclear genes v3.99 COX18 Arina Puzriakova Classified gene: COX18 as Red List (low evidence)
Possible mitochondrial disorder - nuclear genes v3.99 COX18 Arina Puzriakova Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.
Possible mitochondrial disorder - nuclear genes v3.99 COX18 Arina Puzriakova Gene: cox18 has been classified as Red List (Low Evidence).
Possible mitochondrial disorder - nuclear genes v3.98 COX19 Arina Puzriakova Classified gene: COX19 as Red List (low evidence)
Possible mitochondrial disorder - nuclear genes v3.98 COX19 Arina Puzriakova Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.
Possible mitochondrial disorder - nuclear genes v3.98 COX19 Arina Puzriakova Gene: cox19 has been classified as Red List (Low Evidence).
Possible mitochondrial disorder - nuclear genes v3.97 COX6B2 Arina Puzriakova Classified gene: COX6B2 as Red List (low evidence)
Possible mitochondrial disorder - nuclear genes v3.97 COX6B2 Arina Puzriakova Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.
Possible mitochondrial disorder - nuclear genes v3.97 COX6B2 Arina Puzriakova Gene: cox6b2 has been classified as Red List (Low Evidence).
Possible mitochondrial disorder - nuclear genes v3.96 NDUFAF7 Arina Puzriakova Classified gene: NDUFAF7 as Red List (low evidence)
Possible mitochondrial disorder - nuclear genes v3.96 NDUFAF7 Arina Puzriakova Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.
Possible mitochondrial disorder - nuclear genes v3.96 NDUFAF7 Arina Puzriakova Gene: ndufaf7 has been classified as Red List (Low Evidence).
Possible mitochondrial disorder - nuclear genes v3.95 SDHAF3 Arina Puzriakova Classified gene: SDHAF3 as Red List (low evidence)
Possible mitochondrial disorder - nuclear genes v3.95 SDHAF3 Arina Puzriakova Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.
Possible mitochondrial disorder - nuclear genes v3.95 SDHAF3 Arina Puzriakova Gene: sdhaf3 has been classified as Red List (Low Evidence).
Possible mitochondrial disorder - nuclear genes v3.94 SDHAF4 Arina Puzriakova Classified gene: SDHAF4 as Red List (low evidence)
Possible mitochondrial disorder - nuclear genes v3.94 SDHAF4 Arina Puzriakova Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.
Possible mitochondrial disorder - nuclear genes v3.94 SDHAF4 Arina Puzriakova Gene: sdhaf4 has been classified as Red List (Low Evidence).
Possible mitochondrial disorder - nuclear genes v3.93 ATP5J2 Arina Puzriakova Classified gene: ATP5J2 as Red List (low evidence)
Possible mitochondrial disorder - nuclear genes v3.93 ATP5J2 Arina Puzriakova Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with a human disease.
Possible mitochondrial disorder - nuclear genes v3.93 ATP5J2 Arina Puzriakova Gene: atp5j2 has been classified as Red List (Low Evidence).
Possible mitochondrial disorder - nuclear genes v3.92 CYCS Arina Puzriakova Phenotypes for gene: CYCS were changed from Thrombocytopenia 4, 612004 to Thrombocytopenia 4, OMIM:612004
Possible mitochondrial disorder - nuclear genes v3.91 CYCS Arina Puzriakova Publications for gene: CYCS were set to
Possible mitochondrial disorder - nuclear genes v3.90 CYCS Arina Puzriakova Classified gene: CYCS as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v3.90 CYCS Arina Puzriakova Added comment: Comment on list classification: There are sufficient unrelated cases to support a gene-disease association and given that in vitro studies of patient variants have shown functional defects in the mitochondrial respiratory chain, this gene can be promoted to Green status at the next GMS panel update.
Possible mitochondrial disorder - nuclear genes v3.90 CYCS Arina Puzriakova Gene: cycs has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v3.89 CYCS Arina Puzriakova Tag Q1_24_promote_green tag was added to gene: CYCS.
Possible mitochondrial disorder - nuclear genes v3.89 CYCS Arina Puzriakova commented on gene: CYCS
Possible mitochondrial disorder - nuclear genes v3.89 MSTO1 Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance should be changed to BIALLELIC, autosomal or pseudoautosomal.
Possible mitochondrial disorder - nuclear genes v3.89 MSTO1 Sarah Leigh Mode of inheritance for gene: MSTO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v3.88 MSTO1 Sarah Leigh Tag Q1_24_MOI tag was added to gene: MSTO1.
Possible mitochondrial disorder - nuclear genes v3.88 MSTO1 Sarah Leigh Publications for gene: MSTO1 were set to 28554942; 28544275; 29339779
Possible mitochondrial disorder - nuclear genes v3.87 MSTO1 Sarah Leigh reviewed gene: MSTO1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v3.87 BTD Mohamed Nassr commented on gene: BTD
Possible mitochondrial disorder - nuclear genes v3.87 HSD17B10 Arina Puzriakova Publications for gene: HSD17B10 were set to
Possible mitochondrial disorder - nuclear genes v3.86 HSD17B10 Arina Puzriakova Phenotypes for gene: HSD17B10 were changed from HSD10 mitochondrial disease, 300438 to HSD10 mitochondrial disease, OMIM:300438
Possible mitochondrial disorder - nuclear genes v3.85 COX5A Sarah Leigh edited their review of gene: COX5A: Added comment: To date, two COX5A variants have been associated with Mitochondrial complex IV deficiency, nuclear type 20 (OMIM:619064) in two unrelated cases (PMID: 28247525;35246835). Analysis of patient fibroblasts has revealed a reduced enzymatic activity and protein levels of complex IV and several of its subunits, plus, lentiviral complementation rescues the complex IV deficiency (PMID: 28247525;35246835).; Changed rating: GREEN
Possible mitochondrial disorder - nuclear genes v3.85 COX5A Sarah Leigh Classified gene: COX5A as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v3.85 COX5A Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Possible mitochondrial disorder - nuclear genes v3.85 COX5A Sarah Leigh Gene: cox5a has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v3.84 COX5A Sarah Leigh Tag Q4_23_promote_green tag was added to gene: COX5A.
Tag Q4_23_NHS_review tag was added to gene: COX5A.
Possible mitochondrial disorder - nuclear genes v3.84 COX5A Sarah Leigh Publications for gene: COX5A were set to 28247525; 35246835
Possible mitochondrial disorder - nuclear genes v3.83 COX5A Sarah Leigh Phenotypes for gene: COX5A were changed from Pulmonary arterial hypertension, lactic acidemia, and failure to thrive to ?Mitochondrial complex IV deficiency, nuclear type 20, OMIM:619064; Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
Possible mitochondrial disorder - nuclear genes v3.82 COX5A Sarah Leigh Publications for gene: COX5A were set to 28247525
Possible mitochondrial disorder - nuclear genes v3.81 COX11 Sarah Leigh Classified gene: COX11 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v3.81 COX11 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Possible mitochondrial disorder - nuclear genes v3.81 COX11 Sarah Leigh Gene: cox11 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v3.80 COX11 Sarah Leigh Tag Q4_23_promote_green tag was added to gene: COX11.
Tag Q4_23_NHS_review tag was added to gene: COX11.
Possible mitochondrial disorder - nuclear genes v3.80 COX11 Sarah Leigh reviewed gene: COX11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Possible mitochondrial disorder - nuclear genes v3.80 COX11 Sarah Leigh Mode of inheritance for gene: COX11 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v3.79 COX11 Sarah Leigh Phenotypes for gene: COX11 were changed from Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275; Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520 to Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275; Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
Possible mitochondrial disorder - nuclear genes v3.78 COX11 Sarah Leigh Publications for gene: COX11 were set to 36030551; 38068960
Possible mitochondrial disorder - nuclear genes v3.77 COX11 Sarah Leigh Publications for gene: COX11 were set to 36030551
Possible mitochondrial disorder - nuclear genes v3.76 COX11 Sarah Leigh Publications for gene: COX11 were set to
Possible mitochondrial disorder - nuclear genes v3.75 COX11 Sarah Leigh Mode of inheritance for gene: COX11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v3.74 COX11 Sarah Leigh Phenotypes for gene: COX11 were changed from No OMIM phenotype to Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275; Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
Possible mitochondrial disorder - nuclear genes v3.73 HADHB Achchuthan Shanmugasundram Classified gene: HADHB as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v3.73 HADHB Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
Possible mitochondrial disorder - nuclear genes v3.73 HADHB Achchuthan Shanmugasundram Gene: hadhb has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v3.72 HADHB Achchuthan Shanmugasundram Phenotypes for gene: HADHB were changed from Trifunctional protein deficiency, 609015 to Mitochondrial trifunctional protein deficiency 2, OMIM:620300
Possible mitochondrial disorder - nuclear genes v3.71 HADHB Achchuthan Shanmugasundram Publications for gene: HADHB were set to
Possible mitochondrial disorder - nuclear genes v3.70 HADHB Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: HADHB.
Possible mitochondrial disorder - nuclear genes v3.70 HADHB Achchuthan Shanmugasundram reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 35403730; Phenotypes: Mitochondrial trifunctional protein deficiency 2, OMIM:620300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v3.70 TRIT1 Eleanor Williams Phenotypes for gene: TRIT1 were changed from Combined oxidative phosphorylation deficiency 35, OMIM:617873 to Combined oxidative phosphorylation deficiency 35, OMIM:617873; combined oxidative phosphorylation deficiency 35, MONDO:0054742
Possible mitochondrial disorder - nuclear genes v3.69 ATP5E Sarah Leigh Phenotypes for gene: ATP5E were changed from ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053 to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, OMIM:614053; mitochondrial complex V (ATP synthase) deficiency nuclear type 3, MONDO:0013547
Possible mitochondrial disorder - nuclear genes v3.68 ATP5E Sarah Leigh changed review comment from: PMID: 34954817 reports two further cases of OMIM: 614053 who are both homozygous for ATP5E (new gene name:ATP5F1E) variant c.35A>G, p.Tyr12Cys (rs387906929), previously reported in PubMed: 20566710. Personal communication with the lead author of PMID: 34954817, confirmed that none of these cases were related to one another and so represent independent occurrences of this variant.; to: PMID: 34954817 reports two further cases of OMIM: 614053 who are both homozygous for ATP5E (new gene name: ATP5F1E) variant c.35A>G, p.Tyr12Cys (rs387906929), previously reported in PubMed: 20566710. Personal communication with the lead author of PMID: 34954817, confirmed that none of these cases were related to one another and so represent independent occurrences of this variant.
Possible mitochondrial disorder - nuclear genes v3.68 ATP5E Sarah Leigh Tag Q4_23_expert_review was removed from gene: ATP5E.
Tag Q4_23_NHS_review tag was added to gene: ATP5E.
Possible mitochondrial disorder - nuclear genes v3.68 ATP5E Sarah Leigh reviewed gene: ATP5E: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Possible mitochondrial disorder - nuclear genes v3.68 ATP5E Eleanor Williams Tag Q4_23_promote_green tag was added to gene: ATP5E.
Tag Q4_23_expert_review tag was added to gene: ATP5E.
Possible mitochondrial disorder - nuclear genes v3.68 ATP5B Sarah Leigh commented on gene: ATP5B: In the opinion of Helen Brittain (Clinical Fellow, Genomics England) is "There is a lack of clarity over the penetrance, plus also the phenotypes are somewhat disparate (the twins had DD with episodic hyperthermia, whereas the other cases presented with dystonia). A gene:disease association cannot be made at this time".
Possible mitochondrial disorder - nuclear genes v3.68 HSPA9 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: HSPA9.
Tag Q4_23_NHS_review tag was added to gene: HSPA9.
Possible mitochondrial disorder - nuclear genes v3.68 HSPA9 Achchuthan Shanmugasundram Classified gene: HSPA9 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v3.68 HSPA9 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of biallelic variants in HSPA9 gene to Even-plus syndrome. Hence, this gene should be promoted to green rating in the next GMS review.
Possible mitochondrial disorder - nuclear genes v3.68 HSPA9 Achchuthan Shanmugasundram Gene: hspa9 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v3.67 HSPA9 Achchuthan Shanmugasundram Mode of inheritance for gene: HSPA9 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v3.66 HSPA9 Achchuthan Shanmugasundram Publications for gene: HSPA9 were set to 26598328; 32869452; 35779070; 36052765
Possible mitochondrial disorder - nuclear genes v3.65 HSPA9 Achchuthan Shanmugasundram changed review comment from: As reviewed by Hannah Knight, there are more than three unrelated cases identified with biallelic HSPA9 variants and reported with Even-plus syndrome (MIM #616854).

However, there are only two unrelated families identified with monoallelic HSPA9 variants and reported with sideroblastic anemia-4 (PMID:26491070).; to: As reviewed by Hannah Knight, there are more than three unrelated cases identified with biallelic HSPA9 variants and reported with Even-plus syndrome (MIM #616854).

However, there are only two unrelated families identified with monoallelic HSPA9 variants and reported with sideroblastic anemia-4 (MIM #182170) (PMID:26491070).
Possible mitochondrial disorder - nuclear genes v3.65 HSPA9 Achchuthan Shanmugasundram reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: None; Publications: 26491070, 26598328, 32869452, 35779070, 36052765; Phenotypes: Even-plus syndrome, OMIM:616854, Anemia, sideroblastic, 4, OMIM:182170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v3.65 HSPA9 Achchuthan Shanmugasundram Deleted their review
Possible mitochondrial disorder - nuclear genes v3.65 HSPA9 Achchuthan Shanmugasundram Publications for gene: HSPA9 were set to
Possible mitochondrial disorder - nuclear genes v3.64 HSPA9 Achchuthan Shanmugasundram Phenotypes for gene: HSPA9 were changed from Even-plus syndrome, 616854; Anemia, sideroblastic, 4, 182170; Also Parkinson disease association? to Even-plus syndrome, OMIM:616854; Anemia, sideroblastic, 4, OMIM:182170
Possible mitochondrial disorder - nuclear genes v3.63 HSPA9 Achchuthan Shanmugasundram reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Even-plus syndrome, OMIM:616854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v3.63 ATP5B Sarah Leigh reviewed gene: ATP5B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Possible mitochondrial disorder - nuclear genes v3.63 ATP5B Sarah Leigh Penetrance for gene ATP5B was set from to None
Possible mitochondrial disorder - nuclear genes v3.62 ATP5B Sarah Leigh Mode of inheritance for gene: ATP5B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Possible mitochondrial disorder - nuclear genes v3.61 ATP5B Sarah Leigh Phenotypes for gene: ATP5B were changed from No OMIM phenotype to ?Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, OMIM: 620085
Possible mitochondrial disorder - nuclear genes v3.60 ATP5B Sarah Leigh Publications for gene: ATP5B were set to
Possible mitochondrial disorder - nuclear genes v3.59 PTCD3 Sarah Leigh Phenotypes for gene: PTCD3 were changed from ?Combined oxidative phosphorylation deficiency 51, OMIM:619057 to ?Combined oxidative phosphorylation deficiency 51, OMIM:619057; combined oxidative phosphorylation deficiency 51, MONDO:0033631
Possible mitochondrial disorder - nuclear genes v3.58 PTCD3 Sarah Leigh Tag Q4_23_promote_green tag was added to gene: PTCD3.
Tag Q4_23_NHS_review tag was added to gene: PTCD3.
Possible mitochondrial disorder - nuclear genes v3.58 PTCD3 Sarah Leigh edited their review of gene: PTCD3: Added comment: PTCD3 variants are associated with ?Combined oxidative phosphorylation deficiency 51 (OMIM:619057), but not associated with phenotype in Gen2Phen. At least six variants have been reported in three unrelated cases, with OMIM:619057 (PMID: 30607703; 36450274). Functional studies also support the involvement of PTCD3 variants in this condition (PMID: 30607703; 36450274).; Changed rating: GREEN
Possible mitochondrial disorder - nuclear genes v3.58 PTCD3 Sarah Leigh Classified gene: PTCD3 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v3.58 PTCD3 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Possible mitochondrial disorder - nuclear genes v3.58 PTCD3 Sarah Leigh Gene: ptcd3 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v3.57 PTCD3 Sarah Leigh Phenotypes for gene: PTCD3 were changed from No OMIM phenotype to ?Combined oxidative phosphorylation deficiency 51, OMIM:619057
Possible mitochondrial disorder - nuclear genes v3.56 PTCD3 Sarah Leigh Publications for gene: PTCD3 were set to 30607703; 36450274
Possible mitochondrial disorder - nuclear genes v3.55 PTCD3 Sarah Leigh Publications for gene: PTCD3 were set to 30607703
Possible mitochondrial disorder - nuclear genes v3.54 MRM2 Sarah Leigh Tag Q4_23_promote_green tag was added to gene: MRM2.
Tag Q4_23_NHS_review tag was added to gene: MRM2.
Possible mitochondrial disorder - nuclear genes v3.54 MRM2 Sarah Leigh edited their review of gene: MRM2: Added comment: MRM2 variants have been associated with ?Mitochondrial DNA depletion syndrome 17 (OMIM:618567), but not associated with phenotype in Gen2Phen. To date three biallelic MRM2 variants have been reported three unrelated cases (PMID: 28973171;36002240), supportive yeast functional studies have also been presented (PMID: 36002240).; Changed rating: GREEN
Possible mitochondrial disorder - nuclear genes v3.54 MRM2 Sarah Leigh Classified gene: MRM2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v3.54 MRM2 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Possible mitochondrial disorder - nuclear genes v3.54 MRM2 Sarah Leigh Gene: mrm2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v3.53 MRM2 Sarah Leigh Publications for gene: MRM2 were set to 28973171
Possible mitochondrial disorder - nuclear genes v3.52 ATP5E Sarah Leigh Publications for gene: ATP5E were set to 20566710; 25954304
Possible mitochondrial disorder - nuclear genes v3.51 HSPA9 Hannah Knight reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: None; Publications: 26598328, 32869452, 35779070, 36052765; Phenotypes: Even-plus syndrome 616854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v3.49 COX16 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: COX16.
Possible mitochondrial disorder - nuclear genes v3.49 COX16 Achchuthan Shanmugasundram commented on gene: COX16
Possible mitochondrial disorder - nuclear genes v3.49 C2orf69 Achchuthan Shanmugasundram changed review comment from: The OMIM entry for this gene is OMIM:619219, which has been crossed checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.; to: The OMIM entry for this gene is OMIM:619219, which has been cross-checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.
Possible mitochondrial disorder - nuclear genes v3.49 C2orf69 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: C2orf69.
Possible mitochondrial disorder - nuclear genes v3.49 C2orf69 Achchuthan Shanmugasundram commented on gene: C2orf69
Possible mitochondrial disorder - nuclear genes v3.49 UQCRB Arina Puzriakova Phenotypes for gene: UQCRB were changed from Mitochondrial complex III deficiency, nuclear type 3, 615158 to Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158
Possible mitochondrial disorder - nuclear genes v3.48 COX11 Hannah Knight reviewed gene: COX11: Rating: AMBER; Mode of pathogenicity: None; Publications: 36030551; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 23; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v3.48 COX5A Hannah Knight reviewed gene: COX5A: Rating: AMBER; Mode of pathogenicity: None; Publications: 35246835; Phenotypes: ?Mitochondrial complex IV deficiency, nuclear type 20; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v3.48 MRM2 Hannah Knight reviewed gene: MRM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36002240; Phenotypes: ?Mitochondrial DNA depletion syndrome 17; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v3.48 PTCD3 Hannah Knight reviewed gene: PTCD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 36450274; Phenotypes: Combined oxidative phosphorylation deficiency 51; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v3.48 ATP5E Hannah Knight reviewed gene: ATP5E: Rating: GREEN; Mode of pathogenicity: None; Publications: 34954817; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v3.48 ATP5B Hannah Knight reviewed gene: ATP5B: Rating: AMBER; Mode of pathogenicity: None; Publications: 36239646, 36860166; Phenotypes: Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Possible mitochondrial disorder - nuclear genes v3.48 QARS Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: QARS.
Possible mitochondrial disorder - nuclear genes v3.48 QARS Achchuthan Shanmugasundram Classified gene: QARS as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v3.48 QARS Achchuthan Shanmugasundram Added comment: Comment on list classification: QARS encodes t-RNA synthetase and it should be included in this panel with green rating in line with other t-RNA synthetases.
Possible mitochondrial disorder - nuclear genes v3.48 QARS Achchuthan Shanmugasundram Gene: qars has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v3.47 QARS Achchuthan Shanmugasundram Publications for gene: QARS were set to
Possible mitochondrial disorder - nuclear genes v3.46 QARS Achchuthan Shanmugasundram reviewed gene: QARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, OMIM:615760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v3.46 PANK2 Achchuthan Shanmugasundram Publications for gene: PANK2 were set to
Possible mitochondrial disorder - nuclear genes v3.45 PANK2 Achchuthan Shanmugasundram edited their review of gene: PANK2: Changed publications to: 11479594, 12510040, 25778941, 28863176
Possible mitochondrial disorder - nuclear genes v3.45 PANK2 Achchuthan Shanmugasundram Classified gene: PANK2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v3.45 PANK2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for this gene to be promoted to green rating in the next major update.
Possible mitochondrial disorder - nuclear genes v3.45 PANK2 Achchuthan Shanmugasundram Gene: pank2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v3.44 PANK2 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: PANK2.
Possible mitochondrial disorder - nuclear genes v3.44 PANK2 Achchuthan Shanmugasundram reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25778941, 11479594, 12510040, 28863176, 25778941; Phenotypes: HARP syndrome, OMIM:607236, Neurodegeneration with brain iron accumulation 1, OMIM:234200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v3.44 OXCT1 Achchuthan Shanmugasundram Classified gene: OXCT1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v3.44 OXCT1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As there is sufficient evidence available, this gene can be promoted to green rating in this panel in the next major update.
Possible mitochondrial disorder - nuclear genes v3.44 OXCT1 Achchuthan Shanmugasundram Gene: oxct1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v3.43 OXCT1 Achchuthan Shanmugasundram Publications for gene: OXCT1 were set to
Possible mitochondrial disorder - nuclear genes v3.42 OXCT1 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: OXCT1.
Possible mitochondrial disorder - nuclear genes v3.42 OXCT1 Achchuthan Shanmugasundram reviewed gene: OXCT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8751852, 10964512, 11757586, 23420214, 25778941; Phenotypes: Succinyl CoA:3-oxoacid CoA transferase deficiency, OMIM:24505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v3.42 LETM1 Sarah Leigh changed review comment from: LETM1 variants has been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder.
PMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%) (PMID: 36055214, figure 1c).; to: LETM1 variants have been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder.
PMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%) (PMID: 36055214, figure 1c).
Possible mitochondrial disorder - nuclear genes v3.42 SLC22A5 Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v3.41 SLC22A5 Sarah Leigh edited their review of gene: SLC22A5: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v3.41 SLC22A5 Sarah Leigh changed review comment from: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; to: The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427).
Possible mitochondrial disorder - nuclear genes v3.41 LETM1 Sarah Leigh Tag Q3_23_NHS_review tag was added to gene: LETM1.
Possible mitochondrial disorder - nuclear genes v3.41 LETM1 Sarah Leigh edited their review of gene: LETM1: Added comment: LETM1 variants has been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder.
PMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%) (PMID: 36055214, figure 1c).; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v3.41 LETM1 Sarah Leigh Tag Q3_23_promote_green tag was added to gene: LETM1.
Tag Q3_23_MOI tag was added to gene: LETM1.
Possible mitochondrial disorder - nuclear genes v3.41 LETM1 Sarah Leigh Classified gene: LETM1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v3.41 LETM1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Possible mitochondrial disorder - nuclear genes v3.41 LETM1 Sarah Leigh Gene: letm1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v3.40 LETM1 Sarah Leigh Publications for gene: LETM1 were set to
Possible mitochondrial disorder - nuclear genes v3.39 LETM1 Sarah Leigh Phenotypes for gene: LETM1 were changed from 620089 Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction to Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089
Possible mitochondrial disorder - nuclear genes v3.38 IDH3A Sarah Leigh Tag Q3_23_NHS_review tag was added to gene: IDH3A.
Possible mitochondrial disorder - nuclear genes v3.38 CRLS1 Sarah Leigh Tag Q3_23_NHS_review tag was added to gene: CRLS1.
Possible mitochondrial disorder - nuclear genes v3.38 C2orf69 Sarah Leigh Phenotypes for gene: C2orf69 were changed from Combined oxidative phosphorylation deficiency 53, OMIM:619423 to Combined oxidative phosphorylation deficiency 53, OMIM:619423; combined oxidative phosphorylation deficiency 53, MONDO:0030378
Possible mitochondrial disorder - nuclear genes v3.37 C2orf69 Sarah Leigh Tag Q3_23_NHS_review tag was added to gene: C2orf69.
Possible mitochondrial disorder - nuclear genes v3.37 ATP5O Sarah Leigh Phenotypes for gene: ATP5O were changed from Mitochondrial complex V (ATP synthase) deficiency to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359
Possible mitochondrial disorder - nuclear genes v3.36 ATP5O Sarah Leigh Tag Q3_23_NHS_review tag was added to gene: ATP5O.
Possible mitochondrial disorder - nuclear genes v3.36 SLC22A5 Sarah Leigh Publications for gene: SLC22A5 were set to
Possible mitochondrial disorder - nuclear genes v3.35 SLC22A5 Sarah Leigh reviewed gene: SLC22A5: Rating: ; Mode of pathogenicity: None; Publications: 10545605, 11261427; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v3.35 SLC22A5 Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v3.34 SLC22A5 Sarah Leigh Phenotypes for gene: SLC22A5 were changed from Carnitine deficiency, systemic primary, 212140 to Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919
Possible mitochondrial disorder - nuclear genes v3.33 LETM1 Carl Fratter gene: LETM1 was added
gene: LETM1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LETM1 were set to 620089 Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction
Review for gene: LETM1 was set to GREEN
Added comment: Consensus opinion from the 3 NHSE GMS specialist mitochondrial providers.
Sources: Expert Review
Possible mitochondrial disorder - nuclear genes v3.33 IDH3A Carl Fratter edited their review of gene: IDH3A: Added comment: Consensus opinion from the 3 specialist mitochondrial providers.; Changed publications to: 28412069, 28058510, 30478029; Changed phenotypes to: Infantile encephalopathy, 619007 Retinitis pigmentosa 90
Possible mitochondrial disorder - nuclear genes v3.33 CRLS1 Carl Fratter reviewed gene: CRLS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 620167 Combined oxidative phosphorylation deficiency 57; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v3.33 C2orf69 Carl Fratter reviewed gene: C2orf69: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 619423 Combined oxidative phosphorylation deficiency 53; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v3.33 ATP5O Carl Fratter edited their review of gene: ATP5O: Added comment: Consensus opinion from the 3 specialist mitochondrial providers.; Changed rating: GREEN; Changed phenotypes to: 620359 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v3.33 PPOX Achchuthan Shanmugasundram changed review comment from: As reviewed by Zornitza Stark and suggested in PMID:25778941, Variegate porphyria (VP) should be included in this panel.

Autosomal dominat variegate porphyria (VP):

VP is usually caused by autosomal dominant variants in PPOX gene in the majority of the cases.

PMID:30476629 - Eight unrelated individuals with seven different variants in heterozygous state were reported with VP.

Autosomal dominant variants in this gene have also been associated with VP in OMIM (MIM #176200).

Autosomal recessive variegate porphyria (VP):

PMID:9540991 - A severely affected female proband with recessive VP was identified with two missense compound heterozygous variants in PPOX gene (p.Gly169Glu & p.Gly358Arg), as detected by heteroduplex analysis, automated sequencing, and allele specific oligonucleotide hybridization.

PMID:10870850 - Two unrelated South African cases with variegate porphyria were reported with onset of the disease usually in infancy and with severe skin manifestations. The variant detection included combined SSCP-heteroduplex analysis followed by direct sequencing and both had the common p.Arg59Trp variant, while the other variant was p.Tyr348Cys in one and p.Arg138Pro in the other.

PMID:32247286 - A case of VP was reported from a family with only cutaneous manifestations and was identified with two heterozygous missense variants in PPOX gene (p.Gly41Cys and p.Trp42Arg). The same variants were identified in patient's mother who had skin lesions, whereas father had no clinical involvement and did not have any of these variants. The familly study showed that the two variants occur in cis on the same allele.

PMID:33159949 - A novel homozygous variant in PPOX gene (c.808G>T) was identified in a patient with autosomal recessive form of VP.

Overall, the autosomal recessive form of VP usually occurs early in in fancy and have markedly reduced levels of protoporphyrinogen oxidase than autosomal dominant form. Autosomal recessive VP has not yet been reported in OMIM.; to: As reviewed by Zornitza Stark in 'Mitochondrial disorders' panel and suggested in PMID:25778941, Variegate porphyria (VP) should be included in this panel.

Autosomal dominat variegate porphyria (VP):

VP is usually caused by autosomal dominant variants in PPOX gene in the majority of the cases.

PMID:30476629 - Eight unrelated individuals with seven different variants in heterozygous state were reported with VP.

Autosomal dominant variants in this gene have also been associated with VP in OMIM (MIM #176200).

Autosomal recessive variegate porphyria (VP):

PMID:9540991 - A severely affected female proband with recessive VP was identified with two missense compound heterozygous variants in PPOX gene (p.Gly169Glu & p.Gly358Arg), as detected by heteroduplex analysis, automated sequencing, and allele specific oligonucleotide hybridization.

PMID:10870850 - Two unrelated South African cases with variegate porphyria were reported with onset of the disease usually in infancy and with severe skin manifestations. The variant detection included combined SSCP-heteroduplex analysis followed by direct sequencing and both had the common p.Arg59Trp variant, while the other variant was p.Tyr348Cys in one and p.Arg138Pro in the other.

PMID:32247286 - A case of VP was reported from a family with only cutaneous manifestations and was identified with two heterozygous missense variants in PPOX gene (p.Gly41Cys and p.Trp42Arg). The same variants were identified in patient's mother who had skin lesions, whereas father had no clinical involvement and did not have any of these variants. The familly study showed that the two variants occur in cis on the same allele.

PMID:33159949 - A novel homozygous variant in PPOX gene (c.808G>T) was identified in a patient with autosomal recessive form of VP.

Overall, the autosomal recessive form of VP usually occurs early in in fancy and have markedly reduced levels of protoporphyrinogen oxidase than autosomal dominant form. Autosomal recessive VP has not yet been reported in OMIM.
Possible mitochondrial disorder - nuclear genes v3.33 PPOX Achchuthan Shanmugasundram Classified gene: PPOX as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v3.33 PPOX Achchuthan Shanmugasundram Added comment: Comment on list classification: There are more than three unrelated cases each with both monoallelic and biallelic variants in PPOX gene. Hence, this gene should be promoted to Green at the next GMS update and the MOI should be updated from 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'.
Possible mitochondrial disorder - nuclear genes v3.33 PPOX Achchuthan Shanmugasundram Gene: ppox has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v3.32 PPOX Achchuthan Shanmugasundram Publications for gene: PPOX were set to
Possible mitochondrial disorder - nuclear genes v3.31 PPOX Achchuthan Shanmugasundram Mode of inheritance for gene: PPOX was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v3.30 PPOX Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: PPOX.
Possible mitochondrial disorder - nuclear genes v3.30 PPOX Achchuthan Shanmugasundram reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 9540991, 10870850, 25778941, 30476629, 32247286, 33159949; Phenotypes: Porphyria variegata, OMIM:176200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v3.30 IDH3A Sarah Leigh Tag Q2_23_promote_green tag was added to gene: IDH3A.
Possible mitochondrial disorder - nuclear genes v3.30 IDH3A Sarah Leigh Tag Q2_23_promote_green was removed from gene: IDH3A.
Possible mitochondrial disorder - nuclear genes v3.30 IDH3A Sarah Leigh Deleted their comment
Possible mitochondrial disorder - nuclear genes v3.30 IDH3A Sarah Leigh Classified gene: IDH3A as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v3.30 IDH3A Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Possible mitochondrial disorder - nuclear genes v3.30 IDH3A Sarah Leigh Gene: idh3a has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v3.29 IDH3A Sarah Leigh Tag Q2_23_promote_green tag was added to gene: IDH3A.
Possible mitochondrial disorder - nuclear genes v3.29 IDH3A Sarah Leigh reviewed gene: IDH3A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Possible mitochondrial disorder - nuclear genes v3.29 IDH3A Sarah Leigh Publications for gene: IDH3A were set to 28412069; 28058510
Possible mitochondrial disorder - nuclear genes v3.28 IDH3A Sarah Leigh Phenotypes for gene: IDH3A were changed from Infantile encephalopathy; Retinitis pigmentosa with macular pseudocoloboma to Retinitis pigmentosa 90, OMIM:619007; retinitis pigmentosa 90, MONDO:0033563
Possible mitochondrial disorder - nuclear genes v3.27 C2orf69 Arina Puzriakova Entity copied from Mitochondrial disorders v4.27
Possible mitochondrial disorder - nuclear genes v3.27 C2orf69 Arina Puzriakova gene: C2orf69 was added
gene: C2orf69 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Amber,Literature
Q2_23_promote_green tags were added to gene: C2orf69.
Mode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C2orf69 were set to 34038740; 33945503
Phenotypes for gene: C2orf69 were set to Combined oxidative phosphorylation deficiency 53, OMIM:619423
Possible mitochondrial disorder - nuclear genes v3.26 PDHX Arina Puzriakova Phenotypes for gene: PDHX were changed from PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY, 245349 to Lacticacidemia due to PDX1 deficiency, OMIM:245349
Possible mitochondrial disorder - nuclear genes v3.25 PDHB Arina Puzriakova Phenotypes for gene: PDHB were changed from PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY, 614111 to Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111
Possible mitochondrial disorder - nuclear genes v3.24 PC Arina Puzriakova Phenotypes for gene: PC were changed from Pyruvate carboxylase deficiency, 266150 to Pyruvate carboxylase deficiency, OMIM:266150
Possible mitochondrial disorder - nuclear genes v3.23 NDUFS1 Arina Puzriakova Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, nuclear type 5, 618226 to Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226
Possible mitochondrial disorder - nuclear genes v3.22 UQCC2 Arina Puzriakova Phenotypes for gene: UQCC2 were changed from Mitochondrial complex III deficiency, nuclear type 7, 615824 to Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824
Possible mitochondrial disorder - nuclear genes v3.21 SUCLA2 Arina Puzriakova Phenotypes for gene: SUCLA2 were changed from Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073
Possible mitochondrial disorder - nuclear genes v3.20 NDUFB7 Arina Puzriakova Mode of inheritance for gene: NDUFB7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v3.19 NDUFB7 Arina Puzriakova Phenotypes for gene: NDUFB7 were changed from No OMIM phenotype to ?Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135
Possible mitochondrial disorder - nuclear genes v3.18 NDUFB3 Arina Puzriakova Phenotypes for gene: NDUFB3 were changed from Mitochondrial complex I deficiency, nuclear type 25, 618246 to Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246
Possible mitochondrial disorder - nuclear genes v3.17 NDUFA6 Arina Puzriakova Phenotypes for gene: NDUFA6 were changed from Mitochondrial complex I deficiency, nuclear type 33, 618253 to Mitochondrial complex I deficiency, nuclear type 33, OMIM:618253
Possible mitochondrial disorder - nuclear genes v3.16 NADK2 Arina Puzriakova Phenotypes for gene: NADK2 were changed from ?2,4-dienoyl-CoA reductase deficiency, 616034 to 2,4-dienoyl-CoA reductase deficiency, OMIM:616034
Possible mitochondrial disorder - nuclear genes v3.15 MRPS14 Arina Puzriakova Phenotypes for gene: MRPS14 were changed from No OMIM phenotype to ?Combined oxidative phosphorylation deficiency 38, OMIM:618378
Possible mitochondrial disorder - nuclear genes v3.14 MPC1 Arina Puzriakova Phenotypes for gene: MPC1 were changed from Lactic acidosis and hyperpyruvatemia to Mitochondrial pyruvate carrier deficiency, OMIM:614741
Possible mitochondrial disorder - nuclear genes v3.13 GFM2 Arina Puzriakova Publications for gene: GFM2 were set to 29075935
Possible mitochondrial disorder - nuclear genes v3.12 GFM2 Arina Puzriakova Phenotypes for gene: GFM2 were changed from Early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits to Combined oxidative phosphorylation deficiency 39, OMIM:618397; Early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits
Possible mitochondrial disorder - nuclear genes v3.11 GATB Arina Puzriakova Phenotypes for gene: GATB were changed from Mitochondrial cardiomyopathy disorder to ?Combined oxidative phosphorylation deficiency 41, OMIM:618838
Possible mitochondrial disorder - nuclear genes v3.10 ECHS1 Arina Puzriakova Phenotypes for gene: ECHS1 were changed from MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY, 616277 to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277
Possible mitochondrial disorder - nuclear genes v3.9 COA6 Arina Puzriakova Phenotypes for gene: COA6 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 616501 to Mitochondrial complex IV deficiency, nuclear type 13, OMIM:616501
Possible mitochondrial disorder - nuclear genes v3.8 C19orf70 Arina Puzriakova Phenotypes for gene: C19orf70 were changed from No OMIM phenotype to Combined oxidative phosphorylation deficiency 37, OMIM:618329
Possible mitochondrial disorder - nuclear genes v3.7 ATP5O Arina Puzriakova Phenotypes for gene: ATP5O were changed from No OMIM phenotype to Mitochondrial complex V (ATP synthase) deficiency
Possible mitochondrial disorder - nuclear genes v3.6 ATP5O Arina Puzriakova Mode of inheritance for gene: ATP5O was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v3.5 ATP5O Arina Puzriakova Publications for gene: ATP5O were set to
Possible mitochondrial disorder - nuclear genes v3.4 ATP5O Arina Puzriakova Classified gene: ATP5O as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v3.4 ATP5O Arina Puzriakova Added comment: Comment on list classification: There are now sufficient unrelated cases reported (3) to promote this gene to Green at the next GMS panel update.
Possible mitochondrial disorder - nuclear genes v3.4 ATP5O Arina Puzriakova Gene: atp5o has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v3.3 ATP5O Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: ATP5O.
Possible mitochondrial disorder - nuclear genes v3.3 ATP5O Arina Puzriakova reviewed gene: ATP5O: Rating: GREEN; Mode of pathogenicity: None; Publications: 34954817, 35621276; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v3.3 SPG7 Sarah Leigh commented on gene: SPG7
Possible mitochondrial disorder - nuclear genes v3.3 SPG7 Sarah Leigh Publications for gene: SPG7 were set to 24727571
Possible mitochondrial disorder - nuclear genes v3.2 SPG7 Sarah Leigh Phenotypes for gene: SPG7 were changed from Progressive external ophthalmoplegia with mitochondrial DNA deletions to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803
Possible mitochondrial disorder - nuclear genes v3.1 Achchuthan Shanmugasundram Panel version 3.0 has been signed off on 2023-03-22
Possible mitochondrial disorder - nuclear genes v3.0 Achchuthan Shanmugasundram promoted panel to version 3.0
Possible mitochondrial disorder - nuclear genes v2.7 CRLS1 Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: CRLS1.
Possible mitochondrial disorder - nuclear genes v2.7 CRLS1 Achchuthan Shanmugasundram Classified gene: CRLS1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v2.7 CRLS1 Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated GREEN as it has been associated with mitochondrial disorders, as identified from three unrelated cases, and supported by functional evidence.
Possible mitochondrial disorder - nuclear genes v2.7 CRLS1 Achchuthan Shanmugasundram Gene: crls1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v2.6 CRLS1 Achchuthan Shanmugasundram edited their review of gene: CRLS1: Changed rating: GREEN
Possible mitochondrial disorder - nuclear genes v2.6 CRLS1 Achchuthan Shanmugasundram gene: CRLS1 was added
gene: CRLS1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Literature
Mode of inheritance for gene: CRLS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRLS1 were set to 35147173
Phenotypes for gene: CRLS1 were set to Combined oxidative phosphorylation deficiency 57, OMIM:620167
Review for gene: CRLS1 was set to AMBER
Added comment: Three individuals from two unrelated families were identified with the same homozygous variant in CRLS1 (p.Ile109Asn). They presented with a mitochondrial disorder characterized by an evolving pattern of cardiomyopathy, encephalopathy, bilateral auditory neuropathy spectrum disorder, bull’s eye maculopathy, diabetes insipidus, autonomic instability and low complex IV activity in skeletal muscle.

A fourth individual was identified with a compound heterozygous CRLS1 variant (p.Ala172Asp/ p.Leu217Phe) that presented with developmental regression beginning in late infancy, with acquired microcephaly, sensorineural hearing loss and impaired vision.

Functional studies using patient-derived fibroblasts provide evidence that CRLS1 variants cause mitochondrial disease.
Sources: Literature
Possible mitochondrial disorder - nuclear genes v2.5 PDK3 Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Red.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Red. GMS reviewers believe that there is currently insufficient evidence that variants in this gene lead to primary mitochondrial disease (disease mechanism unclear; phenotype CMT; phenotype not consistent with known PDH deficiency disorders).
Possible mitochondrial disorder - nuclear genes v2.5 PDK3 Achchuthan Shanmugasundram Tag Q1_22_rating was removed from gene: PDK3.
Tag Q1_22_phenotype was removed from gene: PDK3.
Tag Q1_22_expert_review was removed from gene: PDK3.
Possible mitochondrial disorder - nuclear genes v2.5 UQCRFS1 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: UQCRFS1.
Tag Q3_22_NHS_review was removed from gene: UQCRFS1.
Possible mitochondrial disorder - nuclear genes v2.5 UQCRC2 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: UQCRC2.
Tag Q3_22_NHS_review was removed from gene: UQCRC2.
Possible mitochondrial disorder - nuclear genes v2.5 TIMMDC1 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: TIMMDC1.
Tag Q3_22_NHS_review was removed from gene: TIMMDC1.
Possible mitochondrial disorder - nuclear genes v2.5 TFAM Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: TFAM.
Tag Q3_22_NHS_review was removed from gene: TFAM.
Possible mitochondrial disorder - nuclear genes v2.5 TARS2 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: TARS2.
Tag Q3_22_NHS_review was removed from gene: TARS2.
Possible mitochondrial disorder - nuclear genes v2.5 SSBP1 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: SSBP1.
Tag Q3_22_NHS_review was removed from gene: SSBP1.
Possible mitochondrial disorder - nuclear genes v2.5 SDHB Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: SDHB.
Tag Q3_22_NHS_review was removed from gene: SDHB.
Possible mitochondrial disorder - nuclear genes v2.5 SDHA Achchuthan Shanmugasundram Tag Q3_22_MOI was removed from gene: SDHA.
Tag Q3_22_NHS_review was removed from gene: SDHA.
Possible mitochondrial disorder - nuclear genes v2.5 POLRMT Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: POLRMT.
Tag Q3_22_NHS_review was removed from gene: POLRMT.
Possible mitochondrial disorder - nuclear genes v2.5 NSUN3 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NSUN3.
Tag Q3_22_NHS_review was removed from gene: NSUN3.
Possible mitochondrial disorder - nuclear genes v2.5 NFS1 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NFS1.
Possible mitochondrial disorder - nuclear genes v2.5 NDUFB10 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFB10.
Tag Q3_22_NHS_review was removed from gene: NDUFB10.
Possible mitochondrial disorder - nuclear genes v2.5 NDUFA8 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFA8.
Tag Q3_22_NHS_review was removed from gene: NDUFA8.
Possible mitochondrial disorder - nuclear genes v2.5 NDUFA13 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFA13.
Tag Q3_22_NHS_review was removed from gene: NDUFA13.
Possible mitochondrial disorder - nuclear genes v2.5 NDUFA12 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFA12.
Tag Q3_22_NHS_review was removed from gene: NDUFA12.
Possible mitochondrial disorder - nuclear genes v2.5 LYRM4 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: LYRM4.
Tag Q3_22_NHS_review was removed from gene: LYRM4.
Possible mitochondrial disorder - nuclear genes v2.5 LIG3 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: LIG3.
Possible mitochondrial disorder - nuclear genes v2.5 COX6A2 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: COX6A2.
Tag Q3_22_NHS_review was removed from gene: COX6A2.
Possible mitochondrial disorder - nuclear genes v2.5 CLPB Achchuthan Shanmugasundram Tag Q4_21_MOI was removed from gene: CLPB.
Tag Q3_22_NHS_review was removed from gene: CLPB.
Possible mitochondrial disorder - nuclear genes v2.5 ATP5G3 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: ATP5G3.
Tag Q3_22_NHS_review was removed from gene: ATP5G3.
Possible mitochondrial disorder - nuclear genes v2.5 ATP5A1 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: ATP5A1.
Tag Q3_22_NHS_review was removed from gene: ATP5A1.
Possible mitochondrial disorder - nuclear genes v2.5 ACO2 Achchuthan Shanmugasundram Tag Q2_22_MOI was removed from gene: ACO2.
Possible mitochondrial disorder - nuclear genes v2.5 PDK3 Achchuthan Shanmugasundram reviewed gene: PDK3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder - nuclear genes v2.5 UQCRFS1 Achchuthan Shanmugasundram reviewed gene: UQCRFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder - nuclear genes v2.5 UQCRC2 Achchuthan Shanmugasundram reviewed gene: UQCRC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder - nuclear genes v2.5 TIMMDC1 Achchuthan Shanmugasundram reviewed gene: TIMMDC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder - nuclear genes v2.5 TFAM Achchuthan Shanmugasundram reviewed gene: TFAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder - nuclear genes v2.5 TARS2 Achchuthan Shanmugasundram reviewed gene: TARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder - nuclear genes v2.5 SSBP1 Achchuthan Shanmugasundram reviewed gene: SSBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder - nuclear genes v2.5 SDHB Achchuthan Shanmugasundram reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder - nuclear genes v2.5 SDHA Achchuthan Shanmugasundram commented on gene: SDHA
Possible mitochondrial disorder - nuclear genes v2.5 POLRMT Achchuthan Shanmugasundram reviewed gene: POLRMT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder - nuclear genes v2.5 NSUN3 Achchuthan Shanmugasundram reviewed gene: NSUN3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder - nuclear genes v2.5 NFS1 Achchuthan Shanmugasundram reviewed gene: NFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder - nuclear genes v2.5 NDUFB10 Achchuthan Shanmugasundram reviewed gene: NDUFB10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder - nuclear genes v2.5 NDUFA8 Achchuthan Shanmugasundram reviewed gene: NDUFA8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder - nuclear genes v2.5 NDUFA13 Achchuthan Shanmugasundram reviewed gene: NDUFA13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder - nuclear genes v2.5 NDUFA12 Achchuthan Shanmugasundram reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder - nuclear genes v2.5 LYRM4 Achchuthan Shanmugasundram reviewed gene: LYRM4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder - nuclear genes v2.5 LIG3 Achchuthan Shanmugasundram reviewed gene: LIG3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder - nuclear genes v2.5 COX6A2 Achchuthan Shanmugasundram reviewed gene: COX6A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder - nuclear genes v2.5 CLPB Achchuthan Shanmugasundram commented on gene: CLPB
Possible mitochondrial disorder - nuclear genes v2.5 ATP5G3 Achchuthan Shanmugasundram reviewed gene: ATP5G3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder - nuclear genes v2.5 ATP5A1 Achchuthan Shanmugasundram reviewed gene: ATP5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder - nuclear genes v2.5 ACO2 Achchuthan Shanmugasundram commented on gene: ACO2
Possible mitochondrial disorder - nuclear genes v2.4 UQCRFS1 Achchuthan Shanmugasundram Source Expert Review Green was added to UQCRFS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v2.4 UQCRC2 Achchuthan Shanmugasundram Source Expert Review Green was added to UQCRC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v2.4 TIMMDC1 Achchuthan Shanmugasundram Source Expert Review Green was added to TIMMDC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v2.4 TFAM Achchuthan Shanmugasundram Source Expert Review Green was added to TFAM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v2.4 TARS2 Achchuthan Shanmugasundram Source Expert Review Green was added to TARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v2.4 SSBP1 Achchuthan Shanmugasundram Source Expert Review Green was added to SSBP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v2.4 SDHB Achchuthan Shanmugasundram Source Expert Review Green was added to SDHB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v2.4 SDHA Achchuthan Shanmugasundram Mode of inheritance for gene SDHA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v2.4 POLRMT Achchuthan Shanmugasundram Source Expert Review Green was added to POLRMT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v2.4 NSUN3 Achchuthan Shanmugasundram Source Expert Review Green was added to NSUN3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v2.4 NFS1 Achchuthan Shanmugasundram Source Expert Review Green was added to NFS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v2.4 NDUFB10 Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFB10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v2.4 NDUFA8 Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFA8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v2.4 NDUFA13 Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFA13.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v2.4 NDUFA12 Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFA12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v2.4 LYRM4 Achchuthan Shanmugasundram Source Expert Review Green was added to LYRM4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v2.4 LIG3 Achchuthan Shanmugasundram Source NHS GMS was added to LIG3.
Source Expert Review Green was added to LIG3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v2.4 COX6A2 Achchuthan Shanmugasundram Source Expert Review Green was added to COX6A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v2.4 CLPB Achchuthan Shanmugasundram Mode of inheritance for gene CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v2.4 ATP5G3 Achchuthan Shanmugasundram Source Expert Review Green was added to ATP5G3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v2.4 ATP5A1 Achchuthan Shanmugasundram Source Expert Review Green was added to ATP5A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v2.4 ACO2 Achchuthan Shanmugasundram Mode of inheritance for gene ACO2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v2.3 COX15 Arina Puzriakova Phenotypes for gene: COX15 were changed from Leigh syndrome due to cytochrome c oxidase deficiency, 256000; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 to Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119
Possible mitochondrial disorder - nuclear genes v2.2 COX10 Arina Puzriakova Phenotypes for gene: COX10 were changed from Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046
Possible mitochondrial disorder - nuclear genes v2.1 Achchuthan Shanmugasundram Panel version 2.0 has been signed off on 2022-11-30
Possible mitochondrial disorder - nuclear genes v2.0 Achchuthan Shanmugasundram promoted panel to version 2.0
Possible mitochondrial disorder - nuclear genes v1.161 GATM Arina Puzriakova Phenotypes for gene: GATM were changed from Cerebral creatine deficiency syndrome 3, 612718 to Cerebral creatine deficiency syndrome 3, OMIM:612718
Possible mitochondrial disorder - nuclear genes v1.160 PDK3 Eleanor Williams Tag Q1_22_expert_review tag was added to gene: PDK3.
Possible mitochondrial disorder - nuclear genes v1.160 PDK3 Eleanor Williams Tag Q1_22_rating tag was added to gene: PDK3.
Possible mitochondrial disorder - nuclear genes v1.160 FASTKD2 Arina Puzriakova Phenotypes for gene: FASTKD2 were changed from ?Mitochondrial complex IV deficiency, 220110 to Combined oxidative phosphorylation deficiency 44, OMIM:618855
Possible mitochondrial disorder - nuclear genes v1.159 UQCRC2 Arina Puzriakova Publications for gene: UQCRC2 were set to 28275242; 23281071
Possible mitochondrial disorder - nuclear genes v1.158 UQCRC2 Arina Puzriakova Phenotypes for gene: UQCRC2 were changed from Mitochondrial complex III deficiency, nuclear type 5, 615160 to Mitochondrial complex III deficiency, nuclear type 5, OMIM:615160
Possible mitochondrial disorder - nuclear genes v1.157 UQCRC1 Arina Puzriakova Publications for gene: UQCRC1 were set to
Possible mitochondrial disorder - nuclear genes v1.156 UQCRC1 Arina Puzriakova Mode of inheritance for gene: UQCRC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Possible mitochondrial disorder - nuclear genes v1.155 UQCRC1 Arina Puzriakova Phenotypes for gene: UQCRC1 were changed from No OMIM phenotype to Parkinsonism with polyneuropathy, OMIM:619279
Possible mitochondrial disorder - nuclear genes v1.154 PET117 Arina Puzriakova Phenotypes for gene: PET117 were changed from No OMIM phenotype to Mitochondrial complex IV deficiency, nuclear type 19, OMIM:619063
Possible mitochondrial disorder - nuclear genes v1.153 NFS1 Arina Puzriakova Classified gene: NFS1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v1.153 NFS1 Arina Puzriakova Added comment: Comment on list classification: There is now sufficient evidence to promote this gene to Green at the next GMS review - associated with relevant phenotype in OMIM (MIM#619386) but not yet in G2P. At least one variant reported in six cases from two unrelated families, together with supportive functional studies.
Possible mitochondrial disorder - nuclear genes v1.153 NFS1 Arina Puzriakova Gene: nfs1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v1.152 NFS1 Arina Puzriakova Publications for gene: NFS1 were set to 24498631
Possible mitochondrial disorder - nuclear genes v1.151 NFS1 Arina Puzriakova Tag Q3_22_rating tag was added to gene: NFS1.
Possible mitochondrial disorder - nuclear genes v1.151 NFS1 Arina Puzriakova edited their review of gene: NFS1: Added comment: Also now additional paper - PMID 33457206: reporting a second family (consanguineous) with three affected children and supportive functional data. Homozygous for the same missense variant as reported in the 2014 paper - this family of Christian Arab descent; the family in the previous report of Mennonite background. Suggests this is a mutation hotspot.; Changed rating: GREEN; Changed publications to: 24498631, 33457206
Possible mitochondrial disorder - nuclear genes v1.151 NFS1 Arina Puzriakova changed review comment from: Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, supporting the Amber rating of this gene on this panel based on current evidence.; to: Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, supporting the Amber rating of this gene on this panel based on evidence provided in PMID:24498631
Possible mitochondrial disorder - nuclear genes v1.151 NFS1 Arina Puzriakova Phenotypes for gene: NFS1 were changed from Infantile mitochondrial complex II/III deficiency to Combined oxidative phosphorylation deficiency 52, OMIM:619386
Possible mitochondrial disorder - nuclear genes v1.150 TWNK Arina Puzriakova Phenotypes for gene: TWNK were changed from Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286 to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286; Perrault syndrome 5, OMIM:616138
Possible mitochondrial disorder - nuclear genes v1.149 SDHA Arina Puzriakova Publications for gene: SDHA were set to
Possible mitochondrial disorder - nuclear genes v1.148 SDHA Arina Puzriakova Phenotypes for gene: SDHA were changed from Mitochondrial respiratory chain complex II deficiency, 252011; Leigh syndrome, 256000 to Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011; Neurodegeneration with ataxia and late-onset optic atrophy, OMIM:619259; Cardiomyopathy, dilated, 1GG, OMIM:613642
Possible mitochondrial disorder - nuclear genes v1.147 QRSL1 Arina Puzriakova Phenotypes for gene: QRSL1 were changed from Mitochondrial cardiomyopathy; Combined oxidative phosphorylation deficiency 40, 618835 to Combined oxidative phosphorylation deficiency 40, OMIM:618835
Possible mitochondrial disorder - nuclear genes v1.146 QRSL1 Arina Puzriakova Publications for gene: QRSL1 were set to 30283131; 26741492
Possible mitochondrial disorder - nuclear genes v1.145 POLG2 Arina Puzriakova Publications for gene: POLG2 were set to 30157269
Possible mitochondrial disorder - nuclear genes v1.144 POLG2 Arina Puzriakova Phenotypes for gene: POLG2 were changed from Mitochondrial DNA depletion syndrome, NA; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 to Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528; Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131
Possible mitochondrial disorder - nuclear genes v1.143 CLPB Arina Puzriakova Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271 to 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271; 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM: 619835; Neutropenia, severe congenital, 9, autosomal dominant, OMIM: 619813
Possible mitochondrial disorder - nuclear genes v1.142 CLPB Arina Puzriakova Publications for gene: CLPB were set to 25597510; 25597511; 25650066; 26916670; 28687938; 34140661
Possible mitochondrial disorder - nuclear genes v1.141 UQCRFS1 Arina Puzriakova Phenotypes for gene: UQCRFS1 were changed from No OMIM phenotype to Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775
Possible mitochondrial disorder - nuclear genes v1.140 UQCRFS1 Arina Puzriakova Publications for gene: UQCRFS1 were set to
Possible mitochondrial disorder - nuclear genes v1.139 UQCRFS1 Arina Puzriakova Mode of inheritance for gene: UQCRFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v1.138 TIMMDC1 Arina Puzriakova Publications for gene: TIMMDC1 were set to
Possible mitochondrial disorder - nuclear genes v1.137 TIMMDC1 Arina Puzriakova Phenotypes for gene: TIMMDC1 were changed from Mitochondrial complex I deficiency, nuclear type 31, 618251 to Mitochondrial complex I deficiency, nuclear type 31, OMIM:618251
Possible mitochondrial disorder - nuclear genes v1.136 TFAM Arina Puzriakova Publications for gene: TFAM were set to 27448789
Possible mitochondrial disorder - nuclear genes v1.135 TFAM Arina Puzriakova Phenotypes for gene: TFAM were changed from ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156 to Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), OMIM:617156
Possible mitochondrial disorder - nuclear genes v1.134 TARS2 Arina Puzriakova Phenotypes for gene: TARS2 were changed from Combined oxidative phosphorylation deficiency 21 OMIM:615918; combined oxidative phosphorylation defect type 21 MONDO:0014398 to Combined oxidative phosphorylation deficiency 21, OMIM:615918
Possible mitochondrial disorder - nuclear genes v1.133 TARS2 Arina Puzriakova Tag Q3_22_NHS_review tag was added to gene: TARS2.
Possible mitochondrial disorder - nuclear genes v1.133 SDHB Arina Puzriakova Phenotypes for gene: SDHB were changed from No OMIM phenotype to Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224
Possible mitochondrial disorder - nuclear genes v1.132 SDHB Arina Puzriakova Publications for gene: SDHB were set to 22972948
Possible mitochondrial disorder - nuclear genes v1.131 NSUN3 Arina Puzriakova Phenotypes for gene: NSUN3 were changed from No OMIM phenotype to Combined oxidative phosphorylation deficiency 48, OMIM:619012
Possible mitochondrial disorder - nuclear genes v1.130 NSUN3 Arina Puzriakova Publications for gene: NSUN3 were set to 27356879
Possible mitochondrial disorder - nuclear genes v1.129 SSBP1 Arina Puzriakova Classified gene: SSBP1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v1.129 SSBP1 Arina Puzriakova Gene: ssbp1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v1.128 SSBP1 Arina Puzriakova Mode of pathogenicity for gene: SSBP1 was changed from Other to Other
Possible mitochondrial disorder - nuclear genes v1.127 SSBP1 Arina Puzriakova Publications for gene: SSBP1 were set to 29182774
Possible mitochondrial disorder - nuclear genes v1.126 SSBP1 Arina Puzriakova Phenotypes for gene: SSBP1 were changed from No OMIM phenotype to Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510
Possible mitochondrial disorder - nuclear genes v1.125 NDUFB10 Arina Puzriakova Publications for gene: NDUFB10 were set to 28040730
Possible mitochondrial disorder - nuclear genes v1.124 NDUFB10 Arina Puzriakova Phenotypes for gene: NDUFB10 were changed from No OMIM phenotype to Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003
Possible mitochondrial disorder - nuclear genes v1.123 NDUFB10 Arina Puzriakova changed review comment from: Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that this gene requires a rating upgrade from Amber to Green.; to: Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that this gene requires a rating upgrade from Amber to Green. Three individuals from two unrelated families now reported with convincing functional studies that support mitochondrial disease (PMID: 28040730; 33169436)
Possible mitochondrial disorder - nuclear genes v1.123 NDUFA8 Arina Puzriakova Phenotypes for gene: NDUFA8 were changed from Mitochondrial complex I deficiency, nuclear type 37, OMIM: 619272 to Mitochondrial complex I deficiency, nuclear type 37, OMIM:619272
Possible mitochondrial disorder - nuclear genes v1.122 NDUFA8 Arina Puzriakova Phenotypes for gene: NDUFA8 were changed from No OMIM phenotype to Mitochondrial complex I deficiency, nuclear type 37, OMIM: 619272
Possible mitochondrial disorder - nuclear genes v1.121 NDUFA8 Arina Puzriakova Publications for gene: NDUFA8 were set to
Possible mitochondrial disorder - nuclear genes v1.120 NDUFA8 Arina Puzriakova Mode of inheritance for gene: NDUFA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v1.119 NDUFA13 Arina Puzriakova Phenotypes for gene: NDUFA13 were changed from ?Mitochondrial complex I deficiency, nuclear type 28, 618249 to Mitochondrial complex I deficiency, nuclear type 28, OMIM:618249
Possible mitochondrial disorder - nuclear genes v1.118 NDUFA13 Arina Puzriakova Publications for gene: NDUFA13 were set to
Possible mitochondrial disorder - nuclear genes v1.117 NDUFA12 Arina Puzriakova Phenotypes for gene: NDUFA12 were changed from ?Mitochondrial complex I deficiency, nuclear type 23, 618244 to Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244
Possible mitochondrial disorder - nuclear genes v1.116 NDUFA12 Arina Puzriakova Publications for gene: NDUFA12 were set to
Possible mitochondrial disorder - nuclear genes v1.115 LYRM4 Arina Puzriakova Phenotypes for gene: LYRM4 were changed from ?Combined oxidative phosphorylation deficiency 19, 615595 to Combined oxidative phosphorylation deficiency 19, OMIM:615595
Possible mitochondrial disorder - nuclear genes v1.114 LYRM4 Arina Puzriakova Publications for gene: LYRM4 were set to 23814038
Possible mitochondrial disorder - nuclear genes v1.113 COX6A2 Arina Puzriakova Publications for gene: COX6A2 were set to
Possible mitochondrial disorder - nuclear genes v1.112 COX6A2 Arina Puzriakova Mode of inheritance for gene: COX6A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v1.111 COX6A2 Arina Puzriakova Phenotypes for gene: COX6A2 were changed from No OMIM phenotype to Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062
Possible mitochondrial disorder - nuclear genes v1.110 ATP5G3 Arina Puzriakova Mode of inheritance for gene: ATP5G3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Possible mitochondrial disorder - nuclear genes v1.109 ATP5G3 Arina Puzriakova Publications for gene: ATP5G3 were set to
Possible mitochondrial disorder - nuclear genes v1.108 ATP5G3 Arina Puzriakova Phenotypes for gene: ATP5G3 were changed from No OMIM phenotype to Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681
Possible mitochondrial disorder - nuclear genes v1.107 ATP5A1 Arina Puzriakova Phenotypes for gene: ATP5A1 were changed from ?Combined oxidative phosphorylation deficiency 22, 616045; ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, 615228 to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228; Combined oxidative phosphorylation deficiency 22, OMIM: 616045
Possible mitochondrial disorder - nuclear genes v1.106 ATP5A1 Arina Puzriakova Publications for gene: ATP5A1 were set to 23596069; 23599390
Possible mitochondrial disorder - nuclear genes v1.105 CLPB Arina Puzriakova edited their review of gene: CLPB: Added comment: Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, supporting the MOI update on this panel from biallelic to both based on current evidence.; Changed rating: GREEN; Changed publications to: 34140661, 34115842; Changed phenotypes to: 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271, 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM: 619835, Neutropenia, severe congenital, 9, autosomal dominant, OMIM: 619813; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v1.105 UQCRC2 Arina Puzriakova reviewed gene: UQCRC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23281071, 33865955, 28275242; Phenotypes: Mitochondrial complex III deficiency, nuclear type 5, OMIM: 615160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Possible mitochondrial disorder - nuclear genes v1.105 UQCRC1 Arina Puzriakova reviewed gene: UQCRC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 30788857, 33141179; Phenotypes: Parkinsonism with polyneuropathy, OMIM: 619279; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Possible mitochondrial disorder - nuclear genes v1.105 PET117 Arina Puzriakova reviewed gene: PET117: Rating: AMBER; Mode of pathogenicity: ; Publications: 28386624; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 19, OMIM: 619063; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Possible mitochondrial disorder - nuclear genes v1.105 NFS1 Arina Puzriakova reviewed gene: NFS1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24498631; Phenotypes: Combined oxidative phosphorylation deficiency 52, OMIM: 619386; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Possible mitochondrial disorder - nuclear genes v1.105 TWNK Arina Puzriakova reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM: 609286, Perrault syndrome 5, OMIM: 616138, Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM 271245; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Possible mitochondrial disorder - nuclear genes v1.105 SDHA Arina Puzriakova reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: ; Publications: 33471299, 10976639, 27683074; Phenotypes: Mitochondrial complex II deficiency, nuclear type 1, OMIM: 252011, Neurodegeneration with ataxia and late-onset optic atrophy, OMIM: 619259, Cardiomyopathy, dilated, 1GG, OMIM: 613642; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Possible mitochondrial disorder - nuclear genes v1.105 QRSL1 Arina Puzriakova reviewed gene: QRSL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29440775, 30283131, 26741492; Phenotypes: Combined oxidative phosphorylation deficiency 40, OMIM: 618835; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Possible mitochondrial disorder - nuclear genes v1.105 POLG2 Arina Puzriakova reviewed gene: POLG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31778857, 21555342, 27592148, 16685652; Phenotypes: ?Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM: 618528, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM: 610131, ?Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM: 619425; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Possible mitochondrial disorder - nuclear genes v1.104 COX16 Arina Puzriakova edited their review of gene: COX16: Added comment: Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, supporting the Amber rating of this gene on this panel based on current evidence.; Changed rating: AMBER; Set current diagnostic: yes
Possible mitochondrial disorder - nuclear genes v1.103 UQCRFS1 Arina Puzriakova reviewed gene: UQCRFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31883641; Phenotypes: Mitochondrial complex III deficiency, nuclear type 10, OMIM: 618775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Possible mitochondrial disorder - nuclear genes v1.103 TIMMDC1 Arina Puzriakova edited their review of gene: TIMMDC1: Added comment: Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that this gene requires a rating upgrade from Amber to Green.; Changed publications to: 33278652, 28604674
Possible mitochondrial disorder - nuclear genes v1.103 TFAM Arina Puzriakova reviewed gene: TFAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 31785789, 32399598, 27448789, 34647195; Phenotypes: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), OMIM: 617156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Possible mitochondrial disorder - nuclear genes v1.102 POLRMT Arina Puzriakova edited their review of gene: POLRMT: Added comment: Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, supporting the rating upgrade from Amber to Green on this panel.; Changed rating: GREEN; Changed publications to: 33602924; Changed phenotypes to: Combined oxidative phosphorylation deficiency 55, OMIM: 619743; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v1.102 TARS2 Arina Puzriakova reviewed gene: TARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33153448, 24827421, 34508595; Phenotypes: Combined oxidative phosphorylation deficiency 21, OMIM: 615918; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Possible mitochondrial disorder - nuclear genes v1.102 SDHB Arina Puzriakova reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: 22972948, 32124427, 26925370, 27604842; Phenotypes: Mitochondrial complex II deficiency, nuclear type 4, OMIM: 619224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Possible mitochondrial disorder - nuclear genes v1.101 NSUN3 Arina Puzriakova reviewed gene: NSUN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 32488845, 27356879; Phenotypes: Combined oxidative phosphorylation deficiency 48, OMIM: 619012; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Possible mitochondrial disorder - nuclear genes v1.100 NDUFC2 Arina Puzriakova reviewed gene: NDUFC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32969598; Phenotypes: Mitochondrial complex I deficiency, nuclear type 36, OMIM: 619170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Possible mitochondrial disorder - nuclear genes v1.99 SSBP1 Arina Puzriakova commented on gene: SSBP1: Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that this gene requires a rating upgrade from Amber to Green. MOI has also been updated from unknown to both mono- and biallelic inline with this review. Carl Fratter mentions additional cases have been seen within NHS GMS (not published).
Possible mitochondrial disorder - nuclear genes v1.99 NDUFB10 Arina Puzriakova reviewed gene: NDUFB10: Rating: GREEN; Mode of pathogenicity: ; Publications: 28040730, 32025618, 33169436; Phenotypes: Mitochondrial complex I deficiency, nuclear type 35, OMIM: 619003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Possible mitochondrial disorder - nuclear genes v1.99 NDUFA8 Arina Puzriakova commented on gene: NDUFA8: Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that this gene requires a rating upgrade from Amber to Green.
Possible mitochondrial disorder - nuclear genes v1.99 NDUFA13 Arina Puzriakova commented on gene: NDUFA13: Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that this gene requires a rating upgrade from Amber to Green.
Possible mitochondrial disorder - nuclear genes v1.99 NDUFA12 Arina Puzriakova commented on gene: NDUFA12: Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that this gene requires a rating upgrade from Amber to Green.
Possible mitochondrial disorder - nuclear genes v1.99 LYRM4 Arina Puzriakova commented on gene: LYRM4: Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that this gene requires a rating upgrade from Amber to Green.
Possible mitochondrial disorder - nuclear genes v1.99 COX6A2 Arina Puzriakova edited their review of gene: COX6A2: Added comment: Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that this gene requires a rating upgrade from Amber to Green.; Changed rating: GREEN; Changed publications to: 31155743, 23460811, 32744742; Changed phenotypes to: Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Set current diagnostic: yes
Possible mitochondrial disorder - nuclear genes v1.99 ATP5G3 Arina Puzriakova edited their review of gene: ATP5G3: Added comment: Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that this gene requires a rating upgrade from Amber to Green.; Changed rating: GREEN; Changed publications to: 34636445, 34954817; Changed phenotypes to: Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Set current diagnostic: yes
Possible mitochondrial disorder - nuclear genes v1.99 ATP5A1 Arina Puzriakova commented on gene: ATP5A1: Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that this gene requires a rating upgrade from Amber to Green. MOI has also been updated from biallelic to both mono- and biallelic inline with this review.
Possible mitochondrial disorder - nuclear genes v1.98 TIMMDC1 Arina Puzriakova reviewed gene: TIMMDC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28604674, 33278652; Phenotypes: Mitochondrial complex I deficiency, nuclear type 31, OMIM:618251; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Possible mitochondrial disorder - nuclear genes v1.98 SSBP1 Arina Puzriakova reviewed gene: SSBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34905022, 31550240, 31550237, 31298765, 31479473; Phenotypes: Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v1.98 NDUFA8 Arina Puzriakova reviewed gene: NDUFA8: Rating: GREEN; Mode of pathogenicity: ; Publications: 33153867, 32385911; Phenotypes: Mitochondrial complex I deficiency, nuclear type 37, OMIM: 619272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Possible mitochondrial disorder - nuclear genes v1.98 NDUFA13 Arina Puzriakova reviewed gene: NDUFA13: Rating: GREEN; Mode of pathogenicity: ; Publications: 25901006, 32722639; Phenotypes: Mitochondrial complex I deficiency, nuclear type 28, OMIM: 618249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Possible mitochondrial disorder - nuclear genes v1.98 NDUFA12 Arina Puzriakova reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: ; Publications: 33715266, 21617257, 35141356; Phenotypes: Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Possible mitochondrial disorder - nuclear genes v1.98 LYRM4 Arina Puzriakova reviewed gene: LYRM4: Rating: GREEN; Mode of pathogenicity: ; Publications: 31497476, 23814038; Phenotypes: Combined oxidative phosphorylation deficiency 19, OMIM: 615595; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Possible mitochondrial disorder - nuclear genes v1.98 ATP5A1 Arina Puzriakova reviewed gene: ATP5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34483339, 23596069, 23599390, 34954817; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228, Combined oxidative phosphorylation deficiency 22, OMIM: 616045; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Possible mitochondrial disorder - nuclear genes v1.97 UQCRC2 Arina Puzriakova Tag Q3_22_rating tag was added to gene: UQCRC2.
Tag Q3_22_NHS_review tag was added to gene: UQCRC2.
Possible mitochondrial disorder - nuclear genes v1.97 SDHA Arina Puzriakova Tag Q3_22_MOI tag was added to gene: SDHA.
Tag Q3_22_NHS_review tag was added to gene: SDHA.
Possible mitochondrial disorder - nuclear genes v1.97 CLPB Arina Puzriakova Tag Q3_22_NHS_review tag was added to gene: CLPB.
Possible mitochondrial disorder - nuclear genes v1.97 UQCRFS1 Arina Puzriakova Tag Q3_22_rating tag was added to gene: UQCRFS1.
Tag Q3_22_NHS_review tag was added to gene: UQCRFS1.
Possible mitochondrial disorder - nuclear genes v1.97 TIMMDC1 Arina Puzriakova Tag Q3_22_rating tag was added to gene: TIMMDC1.
Tag Q3_22_NHS_review tag was added to gene: TIMMDC1.
Possible mitochondrial disorder - nuclear genes v1.97 TFAM Arina Puzriakova Tag Q3_22_rating tag was added to gene: TFAM.
Tag Q3_22_NHS_review tag was added to gene: TFAM.
Possible mitochondrial disorder - nuclear genes v1.97 TARS2 Arina Puzriakova Tag Q3_22_rating tag was added to gene: TARS2.
Possible mitochondrial disorder - nuclear genes v1.97 SDHB Arina Puzriakova Tag Q3_22_rating tag was added to gene: SDHB.
Tag Q3_22_NHS_review tag was added to gene: SDHB.
Possible mitochondrial disorder - nuclear genes v1.97 POLRMT Arina Puzriakova Tag Q3_22_NHS_review tag was added to gene: POLRMT.
Possible mitochondrial disorder - nuclear genes v1.97 NSUN3 Arina Puzriakova Tag Q3_22_rating tag was added to gene: NSUN3.
Tag Q3_22_NHS_review tag was added to gene: NSUN3.
Possible mitochondrial disorder - nuclear genes v1.97 SSBP1 Arina Puzriakova Mode of pathogenicity for gene: SSBP1 was changed from to Other
Possible mitochondrial disorder - nuclear genes v1.96 SSBP1 Arina Puzriakova Mode of inheritance for gene: SSBP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v1.95 SSBP1 Arina Puzriakova Tag Q3_22_rating tag was added to gene: SSBP1.
Tag Q3_22_NHS_review tag was added to gene: SSBP1.
Possible mitochondrial disorder - nuclear genes v1.95 NDUFB10 Arina Puzriakova Tag Q3_22_rating tag was added to gene: NDUFB10.
Tag Q3_22_NHS_review tag was added to gene: NDUFB10.
Possible mitochondrial disorder - nuclear genes v1.95 NDUFA8 Arina Puzriakova Tag Q3_22_rating tag was added to gene: NDUFA8.
Tag Q3_22_NHS_review tag was added to gene: NDUFA8.
Possible mitochondrial disorder - nuclear genes v1.95 NDUFA13 Arina Puzriakova Tag Q3_22_rating tag was added to gene: NDUFA13.
Tag Q3_22_NHS_review tag was added to gene: NDUFA13.
Possible mitochondrial disorder - nuclear genes v1.95 NDUFA12 Arina Puzriakova Tag Q3_22_rating tag was added to gene: NDUFA12.
Tag Q3_22_NHS_review tag was added to gene: NDUFA12.
Possible mitochondrial disorder - nuclear genes v1.95 LYRM4 Arina Puzriakova Tag Q3_22_rating tag was added to gene: LYRM4.
Tag Q3_22_NHS_review tag was added to gene: LYRM4.
Possible mitochondrial disorder - nuclear genes v1.95 COX6A2 Arina Puzriakova commented on gene: COX6A2
Possible mitochondrial disorder - nuclear genes v1.95 COX6A2 Arina Puzriakova Tag Q3_22_rating tag was added to gene: COX6A2.
Tag Q3_22_NHS_review tag was added to gene: COX6A2.
Possible mitochondrial disorder - nuclear genes v1.95 ATP5G3 Arina Puzriakova Tag Q3_22_rating tag was added to gene: ATP5G3.
Tag Q3_22_NHS_review tag was added to gene: ATP5G3.
Possible mitochondrial disorder - nuclear genes v1.95 ATP5G3 Arina Puzriakova commented on gene: ATP5G3
Possible mitochondrial disorder - nuclear genes v1.95 ATP5A1 Arina Puzriakova Mode of inheritance for gene: ATP5A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v1.94 ATP5A1 Arina Puzriakova Tag Q3_22_rating tag was added to gene: ATP5A1.
Tag Q3_22_NHS_review tag was added to gene: ATP5A1.
Possible mitochondrial disorder - nuclear genes v1.94 DNM2 Arina Puzriakova commented on gene: DNM2: The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.
Possible mitochondrial disorder - nuclear genes v1.93 COX16 Arina Puzriakova reviewed gene: COX16: Rating: ; Mode of pathogenicity: None; Publications: 33169484; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 22, OMIM:619355; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v1.93 COX16 Arina Puzriakova Mode of inheritance for gene: COX16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v1.92 COX16 Arina Puzriakova Publications for gene: COX16 were set to
Possible mitochondrial disorder - nuclear genes v1.91 COX16 Arina Puzriakova Phenotypes for gene: COX16 were changed from No OMIM phenotype to Mitochondrial complex IV deficiency, nuclear type 22, OMIM:619355; Hypertrophic cardiomyopathy; Encephalopathy; Severe fatal lactic acidosis
Possible mitochondrial disorder - nuclear genes v1.90 POLRMT Arina Puzriakova Tag Q3_22_rating tag was added to gene: POLRMT.
Possible mitochondrial disorder - nuclear genes v1.90 POLRMT Arina Puzriakova Classified gene: POLRMT as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v1.90 POLRMT Arina Puzriakova Added comment: Comment on list classification: There is now sufficient evidence to promote this gene to Green at the next GMS panel update.

POLRMT is associated with a relevant phenotype in OMIM (MIM# 619743). At least 8 individuals from 7 unrelated families reported in literature (PMID: 33602924) with distinct variant in this gene (5 biallelic, 2 monoallelic) associated with mitochondrial dysfunction and a broad spectrum of neurological presentations. Affected individuals presented with global developmental delay, hypotonia, short stature, and speech/intellectual disability in childhood; one subject displayed an indolent progressive external ophthalmoplegia phenotype.
Possible mitochondrial disorder - nuclear genes v1.90 POLRMT Arina Puzriakova Gene: polrmt has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v1.89 POLRMT Arina Puzriakova Phenotypes for gene: POLRMT were changed from No OMIM phenotype to Combined oxidative phosphorylation deficiency 55, OMIM:619743
Possible mitochondrial disorder - nuclear genes v1.88 POLRMT Arina Puzriakova Publications for gene: POLRMT were set to
Possible mitochondrial disorder - nuclear genes v1.87 ATP5F1 Arina Puzriakova Classified gene: ATP5F1 as Red List (low evidence)
Possible mitochondrial disorder - nuclear genes v1.87 ATP5F1 Arina Puzriakova Added comment: Comment on list classification: Demoting to Red as there is no evidence for Mendelian gene-disease association at this time
Possible mitochondrial disorder - nuclear genes v1.87 ATP5F1 Arina Puzriakova Gene: atp5f1 has been classified as Red List (Low Evidence).
Possible mitochondrial disorder - nuclear genes v1.86 ATP5H Arina Puzriakova Classified gene: ATP5H as Red List (low evidence)
Possible mitochondrial disorder - nuclear genes v1.86 ATP5H Arina Puzriakova Added comment: Comment on list classification: Demoting to Red as there is no evidence for Mendelian gene-disease association at this time
Possible mitochondrial disorder - nuclear genes v1.86 ATP5H Arina Puzriakova Gene: atp5h has been classified as Red List (Low Evidence).
Possible mitochondrial disorder - nuclear genes v1.85 ATP5L Arina Puzriakova Classified gene: ATP5L as Red List (low evidence)
Possible mitochondrial disorder - nuclear genes v1.85 ATP5L Arina Puzriakova Added comment: Comment on list classification: Demoting to Red as there is no evidence for Mendelian gene-disease association at this time
Possible mitochondrial disorder - nuclear genes v1.85 ATP5L Arina Puzriakova Gene: atp5l has been classified as Red List (Low Evidence).
Possible mitochondrial disorder - nuclear genes v1.84 ATP5L2 Arina Puzriakova Classified gene: ATP5L2 as Red List (low evidence)
Possible mitochondrial disorder - nuclear genes v1.84 ATP5L2 Arina Puzriakova Added comment: Comment on list classification: Demoting to Red as there is no evidence for Mendelian gene-disease association at this time
Possible mitochondrial disorder - nuclear genes v1.84 ATP5L2 Arina Puzriakova Gene: atp5l2 has been classified as Red List (Low Evidence).
Possible mitochondrial disorder - nuclear genes v1.83 UQCR10 Arina Puzriakova Classified gene: UQCR10 as Red List (low evidence)
Possible mitochondrial disorder - nuclear genes v1.83 UQCR10 Arina Puzriakova Added comment: Comment on list classification: Demoting to Red as there is no evidence for Mendelian gene-disease association at this time
Possible mitochondrial disorder - nuclear genes v1.83 UQCR10 Arina Puzriakova Gene: uqcr10 has been classified as Red List (Low Evidence).
Possible mitochondrial disorder - nuclear genes v1.82 UQCC1 Arina Puzriakova Classified gene: UQCC1 as Red List (low evidence)
Possible mitochondrial disorder - nuclear genes v1.82 UQCC1 Arina Puzriakova Added comment: Comment on list classification: Demoting to Red as there is no evidence for Mendelian gene-disease association at this time
Possible mitochondrial disorder - nuclear genes v1.82 UQCC1 Arina Puzriakova Gene: uqcc1 has been classified as Red List (Low Evidence).
Possible mitochondrial disorder - nuclear genes v1.81 UQCR11 Arina Puzriakova Classified gene: UQCR11 as Red List (low evidence)
Possible mitochondrial disorder - nuclear genes v1.81 UQCR11 Arina Puzriakova Added comment: Comment on list classification: Demoting to Red as there is no evidence for Mendelian gene-disease association at this time
Possible mitochondrial disorder - nuclear genes v1.81 UQCR11 Arina Puzriakova Gene: uqcr11 has been classified as Red List (Low Evidence).
Possible mitochondrial disorder - nuclear genes v1.80 ACO2 Sarah Leigh Tag Q2_22_MOI tag was added to gene: ACO2.
Possible mitochondrial disorder - nuclear genes v1.80 ACO2 Sarah Leigh commented on gene: ACO2: New paper (34056600) describing ACO2 as a cause of autosomal dominant optic atrophy - update of inheritance needed.
Tom Cullup (Great Ormond Street Hospital), 17 Feb 2022
Possible mitochondrial disorder - nuclear genes v1.80 ACO2 Sarah Leigh reviewed gene: ACO2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v1.80 ACO2 Sarah Leigh Publications for gene: ACO2 were set to
Possible mitochondrial disorder - nuclear genes v1.79 TAZ Arina Puzriakova commented on gene: TAZ
Possible mitochondrial disorder - nuclear genes v1.79 TAZ Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
Possible mitochondrial disorder - nuclear genes v1.79 SLC25A32 Eleanor Williams Tag gene-checked tag was added to gene: SLC25A32.
Possible mitochondrial disorder - nuclear genes v1.79 TRIT1 Eleanor Williams Phenotypes for gene: TRIT1 were changed from Combined oxidative phosphorylation deficiency 35, 617873 to Combined oxidative phosphorylation deficiency 35, OMIM:617873
Possible mitochondrial disorder - nuclear genes v1.78 TRIT1 Eleanor Williams Publications for gene: TRIT1 were set to
Possible mitochondrial disorder - nuclear genes v1.77 TRIT1 Eleanor Williams Tag gene-checked tag was added to gene: TRIT1.
Possible mitochondrial disorder - nuclear genes v1.77 NDUFAF8 Eleanor Williams Tag gene-checked tag was added to gene: NDUFAF8.
Possible mitochondrial disorder - nuclear genes v1.77 HPDL Eleanor Williams Tag gene-checked tag was added to gene: HPDL.
Possible mitochondrial disorder - nuclear genes v1.77 FH Arina Puzriakova Phenotypes for gene: FH were changed from Fumarase deficiency 606812 to Fumarase deficiency, OMIM:606812
Possible mitochondrial disorder - nuclear genes v1.76 AFG3L2 Arina Puzriakova Phenotypes for gene: AFG3L2 were changed from Progressive external ophthalmoplegia with mitochondrial DNA deletions to Optic atrophy 12, OMIM:618977; Spinocerebellar ataxia 28, OMIM:610246; Spastic ataxia 5, autosomal recessive, OMIM:614487
Possible mitochondrial disorder - nuclear genes v1.75 HSPD1 Arina Puzriakova Phenotypes for gene: HSPD1 were changed from Spastic paraplegia 13, autosomal dominant 605280; Leukodystrophy, hypomyelinating, 4, 612233 to Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR); Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD)
Possible mitochondrial disorder - nuclear genes v1.74 OPA1 Arina Puzriakova Phenotypes for gene: OPA1 were changed from Optic atrophy 1, 165500; Optic atrophy plus syndrome, 125250 to Optic atrophy 1, OMIM:165500; Optic atrophy plus syndrome, OMIM:125250; Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896; Behr syndrome, OMIM:210000
Possible mitochondrial disorder - nuclear genes v1.73 MFN2 Arina Puzriakova Phenotypes for gene: MFN2 were changed from Mitochondrial DNA depletion syndrome; Optic atrophy plus to Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM:617087; Hereditary motor and sensory neuropathy VIA, OMIM:601152
Possible mitochondrial disorder - nuclear genes v1.72 GDAP1 Arina Puzriakova Mode of inheritance for gene: GDAP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v1.71 GDAP1 Arina Puzriakova Phenotypes for gene: GDAP1 were changed from Charcot-Marie-Tooth disease, axonal, type 2K, 607831; Charcot-Marie-Tooth disease, recessive intermediate, A, 608340; Charcot-Marie-Tooth disease, type 4A, 214400; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706 to Charcot-Marie-Tooth disease, axonal, type 2K, OMIM:607831; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706; Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340; Charcot-Marie-Tooth disease, type 4A, OMIM:214400
Possible mitochondrial disorder - nuclear genes v1.70 PNPT1 Arina Puzriakova Phenotypes for gene: PNPT1 were changed from Deafness, autosomal recessive 70, 614934; Combined oxidative phosphorylation deficiency 13, 614932 to Combined oxidative phosphorylation deficiency 13, OMIM:614932; Deafness, autosomal recessive 70, OMIM:614934; Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Possible mitochondrial disorder - nuclear genes v1.69 HPDL Sarah Leigh commented on gene: HPDL: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required.
Possible mitochondrial disorder - nuclear genes v1.69 DNM2 Arina Puzriakova commented on gene: DNM2
Possible mitochondrial disorder - nuclear genes v1.68 DNM2 Arina Puzriakova Mode of inheritance for gene DNM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v1.67 NDUFC2 Sarah Leigh Tag for-review was removed from gene: NDUFC2.
Possible mitochondrial disorder - nuclear genes v1.67 COX4I1 Sarah Leigh Tag for-review was removed from gene: COX4I1.
Possible mitochondrial disorder - nuclear genes v1.67 SQOR Sarah Leigh Tag for-review was removed from gene: SQOR.
Possible mitochondrial disorder - nuclear genes v1.67 SQOR Sarah Leigh commented on gene: SQOR: Comment from NHS Genomic Medicine Service patients have Leigh syndrome like brain lesions and encephalopathy as well as lactic acidosisand decreased mitochondrial respiratory chain complex IV in tissue.
Possible mitochondrial disorder - nuclear genes v1.67 COX4I1 Sarah Leigh commented on gene: COX4I1
Possible mitochondrial disorder - nuclear genes v1.67 NDUFC2 Sarah Leigh commented on gene: NDUFC2: The rating of this gene has been updated following NHS Genomic Medicine Service approval
Possible mitochondrial disorder - nuclear genes v1.67 SQOR Sarah Leigh commented on gene: SQOR: The rating of this gene has been updated following NHS Genomic Medicine Service approval
Possible mitochondrial disorder - nuclear genes v1.66 COX4I1 Sarah Leigh Source Expert Review Green was added to COX4I1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v1.66 NDUFC2 Sarah Leigh Source Expert Review Green was added to NDUFC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v1.66 SQOR Sarah Leigh Source Expert Review Green was added to SQOR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v1.65 DHTKD1 Arina Puzriakova Mode of inheritance for gene: DHTKD1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v1.64 HPDL Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: HPDL.
Possible mitochondrial disorder - nuclear genes v1.64 CPT2 Arina Puzriakova Phenotypes for gene: CPT2 were changed from CPT II deficiency, myopathic, stress-induced, 255110 to CPT II deficiency, infantile, OMIM:600649; CPT II deficiency, lethal neonatal, OMIM:608836; CPT II deficiency, myopathic, stress-induced, OMIM:255110
Possible mitochondrial disorder - nuclear genes v1.63 PDK3 Arina Puzriakova Publications for gene: PDK3 were set to
Possible mitochondrial disorder - nuclear genes v1.62 PDK3 Arina Puzriakova reviewed gene: PDK3: Rating: ; Mode of pathogenicity: None; Publications: 23297365, 26801680, 27388934, 28902413, 32504000, 34387338; Phenotypes: Charcot-Marie-Tooth disease, X-linked dominant, 6, OMIM: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)
Possible mitochondrial disorder - nuclear genes v1.62 PDK3 Arina Puzriakova Tag Q1_22_phenotype tag was added to gene: PDK3.
Possible mitochondrial disorder - nuclear genes v1.62 TARS2 Sarah Leigh Phenotypes for gene: TARS2 were changed from ?Combined oxidative phosphorylation deficiency 21, 615918 to Combined oxidative phosphorylation deficiency 21 OMIM:615918; combined oxidative phosphorylation defect type 21 MONDO:0014398
Possible mitochondrial disorder - nuclear genes v1.61 TARS2 Sarah Leigh Publications for gene: TARS2 were set to
Possible mitochondrial disorder - nuclear genes v1.60 TARS2 Sarah Leigh reviewed gene: TARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 33153448, 24827421, 34508595; Phenotypes: Combined oxidative phosphorylation deficiency 21 OMIM:615918, combined oxidative phosphorylation defect type 21 MONDO:0014398; Mode of inheritance: None
Possible mitochondrial disorder - nuclear genes v1.60 SLIRP Zornitza Stark gene: SLIRP was added
gene: SLIRP was added to Possible mitochondrial disorder - nuclear genes. Sources: Literature
Mode of inheritance for gene: SLIRP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLIRP were set to 34426662
Phenotypes for gene: SLIRP were set to Mitochondrial encephalomyopathy with complex I and IV deficiency
Review for gene: SLIRP was set to RED
Added comment: Single Dutch non-consanguineous patient having mitochondrial encephalomyopathy with complex I and complex IV deficiency, whole exome sequencing revealed two compound heterozygous variants (NM_031210.5:c.248_252del; NP_112487.1:p.(Ile83Argfs*10) and NC_000014.8:g.78177003 A > G; NM_031210.5:c.98-178 A > G) in SLIRP. Report SLIRP variants as a novel cause of mitochondrial encephalomyopathy with OXPHOS deficiency
Sources: Literature
Possible mitochondrial disorder - nuclear genes v1.60 ATP5A1 Zornitza Stark reviewed gene: ATP5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 34483339; Phenotypes: feeding intolerance, failure to thrive, hyperammonaemia, lactic acidaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Possible mitochondrial disorder - nuclear genes v1.60 IBA57 Arina Puzriakova Phenotypes for gene: IBA57 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, 615330 to Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330; ?Spastic paraplegia 74, autosomal recessive, OMIM:616451
Possible mitochondrial disorder - nuclear genes v1.59 CLPB Arina Puzriakova Tag Q4_21_MOI tag was added to gene: CLPB.
Possible mitochondrial disorder - nuclear genes v1.59 CLPB Arina Puzriakova Publications for gene: CLPB were set to
Possible mitochondrial disorder - nuclear genes v1.58 CLPB Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'Biallelic' to 'Both mono- and biallelic' at the next GMS update.

Association between biallelic variants and disease is well established, with more than 35 affected individuals reported. Recently, Wortmann et al. 2021 (PMID: 34140661) published six unrelated individuals with one of four different de novo monoallelic missense variants in CLPB. The phenotype strongly overlapped with that observed in the recessive disease including 3-MGA-uria in all cases. Some functional studies were performed which demonstrated changes in the mitochondrial proteome in patient fibroblasts.
Possible mitochondrial disorder - nuclear genes v1.58 CLPB Arina Puzriakova Mode of inheritance for gene: CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v1.57 CLPB Arina Puzriakova Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271
Possible mitochondrial disorder - nuclear genes v1.56 FXN Arina Puzriakova Phenotypes for gene: FXN were changed from Friedreich ataxia, 229300 to Friedreich ataxia, OMIM:229300; Friedreich ataxia with retained reflexes, OMIM:229300
Possible mitochondrial disorder - nuclear genes v1.55 FXN Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: FXN.
Possible mitochondrial disorder - nuclear genes v1.55 HTT Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Possible mitochondrial disorder - nuclear genes v1.55 HTT Arina Puzriakova Mode of inheritance for gene: HTT was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Possible mitochondrial disorder - nuclear genes v1.54 HTT Arina Puzriakova Phenotypes for gene: HTT were changed from Huntington disease, 143100 to Huntington disease, OMIM:143100
Possible mitochondrial disorder - nuclear genes v1.53 HTT Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: HTT.
Tag currently-ngs-unreportable tag was added to gene: HTT.
Possible mitochondrial disorder - nuclear genes v1.53 C12orf65 Arina Puzriakova Phenotypes for gene: C12orf65 were changed from Combined oxidative phosphorylation deficiency 7, 613559; Spastic paraplegia 55, autosomal recessive, 615035 to Combined oxidative phosphorylation deficiency 7, OMIM:613559; Spastic paraplegia 55, autosomal recessive, OMIM:615035
Possible mitochondrial disorder - nuclear genes v1.52 SERAC1 Arina Puzriakova Phenotypes for gene: SERAC1 were changed from 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739
Possible mitochondrial disorder - nuclear genes v1.51 FDX2 Sarah Leigh Phenotypes for gene: FDX2 were changed from Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900 to Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900; mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714
Possible mitochondrial disorder - nuclear genes v1.50 COQ2 Ivone Leong Phenotypes for gene: COQ2 were changed from Coenzyme Q10 deficiency, primary, 1, 607426 to Coenzyme Q10 deficiency, primary, 1, OMIM:607426
Possible mitochondrial disorder - nuclear genes v1.49 NDUFAF8 Ivone Leong Phenotypes for gene: NDUFAF8 were changed from No OMIM phenotype to Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776
Possible mitochondrial disorder - nuclear genes v1.48 ATAD3A Arina Puzriakova Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome, 617183 to Harel-Yoon syndrome, OMIM:617183; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810
Possible mitochondrial disorder - nuclear genes v1.47 MRM2 Arina Puzriakova Phenotypes for gene: MRM2 were changed from No OMIM phenotype to ?Mitochondrial DNA depletion syndrome 17, OMIM:618567
Possible mitochondrial disorder - nuclear genes v1.46 APOPT1 Arina Puzriakova Phenotypes for gene: APOPT1 were changed from Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061
Possible mitochondrial disorder - nuclear genes v1.45 NFU1 Arina Puzriakova Phenotypes for gene: NFU1 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, 605711 to Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711
Possible mitochondrial disorder - nuclear genes v1.44 NAXE Arina Puzriakova Phenotypes for gene: NAXE were changed from Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186 to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, OMIM:617186
Possible mitochondrial disorder - nuclear genes v1.43 LIG3 Ivone Leong Entity copied from White matter disorders and cerebral calcification - narrow panel v1.100
Possible mitochondrial disorder - nuclear genes v1.43 LIG3 Ivone Leong gene: LIG3 was added
gene: LIG3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Amber,Literature
Q2_21_rating tags were added to gene: LIG3.
Mode of inheritance for gene: LIG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIG3 were set to 33855352
Phenotypes for gene: LIG3 were set to gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy; mitochondrial DNA depletion
Possible mitochondrial disorder - nuclear genes v1.42 PMPCB Sarah Leigh Phenotypes for gene: PMPCB were changed from Multiple mitochondrial dysfunctions syndrome 6, 617954 to Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954; multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785
Possible mitochondrial disorder - nuclear genes v1.41 MTFMT Sarah Leigh Phenotypes for gene: MTFMT were changed from Combined oxidative phosphorylation deficiency 15, 614947; Mitochondrial complex I deficiency, nuclear type 27, 618248 to Combined oxidative phosphorylation deficiency 15 OMIM:614947; combined oxidative phosphorylation defect type 15 MONDO:0013987; Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248; mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631
Possible mitochondrial disorder - nuclear genes v1.40 MSTO1 Sarah Leigh Phenotypes for gene: MSTO1 were changed from Myopathy, mitochondrial, and ataxia, 617675 to Myopathy, mitochondrial, and ataxia OMIM:617675; mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714
Possible mitochondrial disorder - nuclear genes v1.39 COA7 Sarah Leigh Phenotypes for gene: COA7 were changed from Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387 to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387; spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
Possible mitochondrial disorder - nuclear genes v1.38 LARS2 Arina Puzriakova Phenotypes for gene: LARS2 were changed from ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021; Perrault syndrome 4, 615300 to Perrault syndrome 4, OMIM:615300; Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only); Multiple respiratory chain complex deficiencies (disorders of protein synthesis
Possible mitochondrial disorder - nuclear genes v1.37 C12orf65 Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
Possible mitochondrial disorder - nuclear genes v1.37 C12orf65 Catherine Snow commented on gene: C12orf65
Possible mitochondrial disorder - nuclear genes v1.37 G6PC Catherine Snow Tag new-gene-name tag was added to gene: G6PC.
Possible mitochondrial disorder - nuclear genes v1.37 G6PC Catherine Snow commented on gene: G6PC
Possible mitochondrial disorder - nuclear genes v1.37 TIMM50 Arina Puzriakova Source: Expert Review Amber was removed from gene: TIMM50
Possible mitochondrial disorder - nuclear genes v1.36 IER3IP1 Arina Puzriakova Source: Expert Review Green was removed from gene: IER3IP1
Possible mitochondrial disorder - nuclear genes v1.35 HMGCL Arina Puzriakova Source: Expert Review Green was removed from gene: HMGCL
Possible mitochondrial disorder - nuclear genes v1.34 NDUFC2 Sarah Leigh changed review comment from: Not associated with relevant phenotype in OMIM or in Gen2Phen. At least 2 variants have been reported in two unrelated cases, together with supportive functional evidence (PMID 32969598). There are also 2 families with complex I deficiency with reported by Carl Fratter (review below 10 May 2019).; to: Associated with relevant phenotype in OMIM, but not Gen2Phen. At least 2 variants have been reported in two unrelated cases, together with supportive functional evidence (PMID 32969598). There are also 2 families with complex I deficiency with reported by Carl Fratter (review below 10 May 2019).
Possible mitochondrial disorder - nuclear genes v1.34 NDUFC2 Sarah Leigh changed review comment from: Comment on phenotypes: Assigned a OMIM phenotype 02/02/2021; to: Comment on phenotypes: Assigned a phenotype by OMIM 02/02/2021
Possible mitochondrial disorder - nuclear genes v1.34 NDUFC2 Sarah Leigh Added comment: Comment on phenotypes: Assigned a OMIM phenotype 02/02/2021
Possible mitochondrial disorder - nuclear genes v1.34 NDUFC2 Sarah Leigh Phenotypes for gene: NDUFC2 were changed from No OMIM phenotype; early-onset Leigh syndrome and stalled biogenesis of complex I to Mitochondrial complex I deficiency, nuclear type 36 OMIM:619170
Possible mitochondrial disorder - nuclear genes v1.33 HPDL Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 16 variants reported in 17 cases from 13 unrelated families, supportive functional studies were reported, including localization of HPDL protein to the mitochrondria and muscle fibre abnormalies in some cases tested (PMID 32707086).; to: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 16 variants reported in 17 cases from 11 unrelated families, supportive functional studies were reported, including localization of HPDL protein to the mitochrondria and muscle fibre abnormalies in some cases tested (PMID 32707086).
Possible mitochondrial disorder - nuclear genes v1.33 COX4I1 Ivone Leong commented on gene: COX4I1: This gene is associated with a relevant phenotype in OMIM and not Gene2Phenotype. Based on the fact that there are now 2 unrelated cases and functional studies there is enough evidence for this gene to be Green.
Possible mitochondrial disorder - nuclear genes v1.33 COX4I1 Ivone Leong Tag for-review tag was added to gene: COX4I1.
Possible mitochondrial disorder - nuclear genes v1.33 COX4I1 Ivone Leong Phenotypes for gene: COX4I1 were changed from No OMIM phenotype to Mitochondrial complex IV deficiency, nuclear type 16, OMIM:619060
Possible mitochondrial disorder - nuclear genes v1.32 COX4I1 Ivone Leong Publications for gene: COX4I1 were set to 28766551
Possible mitochondrial disorder - nuclear genes v1.31 COX4I1 Carl Fratter edited their review of gene: COX4I1: Added comment: GMS to consider whether there is now sufficient evidence for this gene to be green; Changed publications: 28766551, 31290619; Changed phenotypes: OMIM #619060
Possible mitochondrial disorder - nuclear genes v1.31 SQOR Sarah Leigh changed review comment from: Not associated with relevant phenotype in OMIM or in Gen2Phen. At least 2 variants reported in unrelated cases, together with supportive functional studies. The authors of PMID 32160317 hypothesise that in their patients, the low residual SQOR activity was likely sufficient to support H2S clearance during stable episodes but was insufficient during acute illness with catabolism resulting in H2S accumulation and toxicity.; to: Not associated with relevant phenotype in OMIM or in Gen2Phen. At least 2 variants reported in unrelated cases, together with supportive functional studies. The authors of PMID 32160317 hypothesise that in their patients, the low residual SQOR activity was likely sufficient to support H2S clearance during stable episodes but was insufficient during acute illness with catabolism resulting in H2S accumulation and toxicity. They conclude that "SQOR deficiency represents a new, potentially treatable, cause of Leigh disease".
Possible mitochondrial disorder - nuclear genes v1.31 SQOR Sarah Leigh Classified gene: SQOR as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v1.31 SQOR Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Possible mitochondrial disorder - nuclear genes v1.31 SQOR Sarah Leigh Gene: sqor has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v1.30 SQOR Sarah Leigh Tag for-review tag was added to gene: SQOR.
Possible mitochondrial disorder - nuclear genes v1.30 SQOR Sarah Leigh reviewed gene: SQOR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Possible mitochondrial disorder - nuclear genes v1.30 SQOR Sarah Leigh Publications for gene: SQOR were set to PMID: 32160317
Possible mitochondrial disorder - nuclear genes v1.29 SQOR Sarah Leigh Classified gene: SQOR as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v1.29 SQOR Sarah Leigh Gene: sqor has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v1.28 NDUFC2 Sarah Leigh changed review comment from: Not associated with relevant phenotype in OMIM or in Gen2Phen. At least 2 variants have been reported in two unrelated cases (PMID 32969598), these are in addition to the 2 familes with complex I deficiency reported by Carl Fratter (review below 10 May 2019).; to: Not associated with relevant phenotype in OMIM or in Gen2Phen. At least 2 variants have been reported in two unrelated cases, together with supportive functional evidence (PMID 32969598). There are also 2 families with complex I deficiency with reported by Carl Fratter (review below 10 May 2019).
Possible mitochondrial disorder - nuclear genes v1.28 NDUFC2 Sarah Leigh edited their review of gene: NDUFC2: Added comment: Not associated with relevant phenotype in OMIM or in Gen2Phen. At least 2 variants have been reported in two unrelated cases (PMID 32969598), these are in addition to the 2 familes with complex I deficiency reported by Carl Fratter (review below 10 May 2019).; Changed rating: GREEN
Possible mitochondrial disorder - nuclear genes v1.28 NDUFC2 Sarah Leigh Classified gene: NDUFC2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v1.28 NDUFC2 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Possible mitochondrial disorder - nuclear genes v1.28 NDUFC2 Sarah Leigh Gene: ndufc2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v1.27 NDUFC2 Sarah Leigh Tag for-review tag was added to gene: NDUFC2.
Possible mitochondrial disorder - nuclear genes v1.27 NDUFC2 Sarah Leigh Phenotypes for gene: NDUFC2 were changed from No OMIM phenotype to No OMIM phenotype; early-onset Leigh syndrome and stalled biogenesis of complex I
Possible mitochondrial disorder - nuclear genes v1.26 NDUFC2 Sarah Leigh Mode of inheritance for gene: NDUFC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v1.25 NDUFC2 Sarah Leigh Publications for gene: NDUFC2 were set to
Possible mitochondrial disorder - nuclear genes v1.24 HPDL Sarah Leigh edited their review of gene: HPDL: Added comment: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 16 variants reported in 17 cases from 13 unrelated families, supportive functional studies were reported, including localization of HPDL protein to the mitochrondria and muscle fibre abnormalies in some cases tested (PMID 32707086).; Changed rating: GREEN
Possible mitochondrial disorder - nuclear genes v1.24 HPDL Sarah Leigh Classified gene: HPDL as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v1.24 HPDL Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Possible mitochondrial disorder - nuclear genes v1.24 HPDL Sarah Leigh Gene: hpdl has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v1.23 HPDL Sarah Leigh Phenotypes for gene: HPDL were changed from OMIM #619026; OMIM #619027 to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities OMIM:619026; Spastic paraplegia 83, autosomal recessive OMIM:619027
Possible mitochondrial disorder - nuclear genes v1.22 HPDL Sarah Leigh Publications for gene: HPDL were set to PMID: 32707086
Possible mitochondrial disorder - nuclear genes v1.21 HPDL Sarah Leigh Tag for-review tag was added to gene: HPDL.
Possible mitochondrial disorder - nuclear genes v1.21 HPDL Carl Fratter gene: HPDL was added
gene: HPDL was added to Possible mitochondrial disorder - nuclear genes. Sources: Literature
Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPDL were set to PMID: 32707086
Phenotypes for gene: HPDL were set to OMIM #619026; OMIM #619027
Review for gene: HPDL was set to AMBER
Added comment: Requires review by GMS - should this be considered primary mitochondrial disease?
Sources: Literature
Possible mitochondrial disorder - nuclear genes v1.21 SQOR Carl Fratter gene: SQOR was added
gene: SQOR was added to Possible mitochondrial disorder - nuclear genes. Sources: Literature
Mode of inheritance for gene: SQOR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SQOR were set to PMID: 32160317
Phenotypes for gene: SQOR were set to Leigh syndrome
Review for gene: SQOR was set to AMBER
Added comment: Requires review for GMS - should this be considered a primary mitochondrial disorder?
Sources: Literature
Possible mitochondrial disorder - nuclear genes v1.21 NDUFC2 Carl Fratter edited their review of gene: NDUFC2: Added comment: Suggest update to green in view of recent publication; Changed rating: GREEN; Changed publications: PMID: 32969598; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v1.21 COX6B1 Arina Puzriakova Publications for gene: COX6B1 were set to
Possible mitochondrial disorder - nuclear genes v1.20 COX6B1 Arina Puzriakova Phenotypes for gene: COX6B1 were changed from Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051
Possible mitochondrial disorder - nuclear genes v1.19 SCO1 Arina Puzriakova Phenotypes for gene: SCO1 were changed from Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048
Possible mitochondrial disorder - nuclear genes v1.18 Catherine Snow Panel types changed to GMS Rare Disease; GMS signed-off
Panel version has been signed off
Possible mitochondrial disorder - nuclear genes v1.17 Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Panel version has been signed off
Possible mitochondrial disorder - nuclear genes v1.16 TIMM8A Arina Puzriakova reviewed gene: TIMM8A: Rating: ; Mode of pathogenicity: None; Publications: 32820032; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Possible mitochondrial disorder - nuclear genes v1.16 CHCHD10 Eleanor Williams Publications for gene: CHCHD10 were set to
Possible mitochondrial disorder - nuclear genes v1.15 CHCHD10 Eleanor Williams reviewed gene: CHCHD10: Rating: ; Mode of pathogenicity: None; Publications: 31261376; Phenotypes: ; Mode of inheritance: None
Possible mitochondrial disorder - nuclear genes v1.15 QRSL1 Eleanor Williams Phenotypes for gene: QRSL1 were changed from Mitochondrial cardiomyopathy to Mitochondrial cardiomyopathy; Combined oxidative phosphorylation deficiency 40, 618835
Possible mitochondrial disorder - nuclear genes v1.14 Sarah Leigh Panel version has been signed off
Possible mitochondrial disorder - nuclear genes v1.12 SSBP1 Carl Fratter changed review comment from: The publications above indicate that pathogenic variants cause disease via a dominant negative effect.
7 different variants have been reported in 9 unrelated families/individuals.
Only one variant has been reported in association with biallelic (autosomal recessive) inheritance to date; i.e. the majority of reported cases are of monoallelic (autosomal dominant) inheritance.; to: The publications above indicate that pathogenic variants cause disease via a dominant negative effect.
7 different variants have been reported in 9 unrelated families/individuals.
Only one variant has been reported in association with biallelic (autosomal recessive) inheritance to date; i.e. the majority of reported cases are of monoallelic (autosomal dominant) inheritance.
Green rating has been proposed by the GMS Mitochondrial specialist test group on the basis of the evidence summarised here.
Possible mitochondrial disorder - nuclear genes v1.12 SSBP1 Carl Fratter reviewed gene: SSBP1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 31298765, 31550240; Phenotypes: optic atrophy, optic atrophy with additional features (including retinal degeneration); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v1.12 COQ7 Sarah Leigh reviewed gene: COQ7: Rating: ; Mode of pathogenicity: None; Publications: 26084283, 28409910; Phenotypes: ; Mode of inheritance: None
Possible mitochondrial disorder - nuclear genes v1.9 ISCU Sarah Leigh Classified gene: ISCU as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v1.9 ISCU Sarah Leigh Added comment: Comment on list classification: Sufficient published reported biallelic cases, with supportive functional studies. The most frequent reported variant c.343+382G>C g.108567650G>C is deep in intron five of the gene and strengthens a weak splicing acceptor site, with consequent retention of a 100-bp intronic sequence upstream of the known terminal exon, introduction of a stop codon and decreased levels of ISCU mRNA and protein (PMID 18304497). This may be missed by standard sequencing.
Possible mitochondrial disorder - nuclear genes v1.9 ISCU Sarah Leigh Gene: iscu has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v1.8 ISCU Sarah Leigh Publications for gene: ISCU were set to 18296749; 29079705; 19567699; 20206689
Possible mitochondrial disorder - nuclear genes v1.7 ISCU Sarah Leigh Mode of inheritance for gene: ISCU was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v1.6 ISCU Sarah Leigh Tag non-coding-known-pathogenic tag was added to gene: ISCU.
Possible mitochondrial disorder - nuclear genes v1.6 ISCU Sarah Leigh Publications for gene: ISCU were set to
Possible mitochondrial disorder - nuclear genes v1.5 ISCU Sarah Leigh Added comment: Comment on mode of inheritance: A recently reported de novo dominant variant in ISCU associated with mitochondrial myopathy (PMID 29079705), justifies the mode of inheritance listed here (in consultation with the GMS Mitochondrial specialist test group).
Possible mitochondrial disorder - nuclear genes v1.5 ISCU Sarah Leigh Mode of inheritance for gene: ISCU was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v1.4 FH Sarah Leigh Added comment: Comment on phenotypes: Monoallelic variants are associated with Leiomyomatosis and renal cell cancer 150800, however, this phenotype is not appropriate for this panel (in consultation with the GMS Mitochondrial specialist test group).
Possible mitochondrial disorder - nuclear genes v1.4 FH Sarah Leigh Phenotypes for gene: FH were changed from Leiomyomatosis and renal cell cancer, 150800; Fumarase deficiency, 606812 to Fumarase deficiency 606812
Possible mitochondrial disorder - nuclear genes v1.3 FH Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance for this gene is listed as bialleic, for Fumarase deficiency 606812. Monoallelic variants are associated with Leiomyomatosis and renal cell cancer 150800, which is not appropriate for this panel (in consultation with the GMS Mitochondrial specialist test group).
Possible mitochondrial disorder - nuclear genes v1.3 FH Sarah Leigh Mode of inheritance for gene: FH was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v1.2 QARS Louise Daugherty Tag new-gene-name tag was added to gene: QARS.
Possible mitochondrial disorder - nuclear genes v1.2 QARS Louise Daugherty commented on gene: QARS
Possible mitochondrial disorder - nuclear genes v1.2 GARS Louise Daugherty Tag new-gene-name tag was added to gene: GARS.
Possible mitochondrial disorder - nuclear genes v1.2 GARS Louise Daugherty commented on gene: GARS
Possible mitochondrial disorder - nuclear genes v1.2 KARS Louise Daugherty Tag new-gene-name tag was added to gene: KARS.
Possible mitochondrial disorder - nuclear genes v1.2 KARS Louise Daugherty commented on gene: KARS
Possible mitochondrial disorder - nuclear genes v1.2 DARS Louise Daugherty Tag new-gene-name tag was added to gene: DARS.
Possible mitochondrial disorder - nuclear genes v1.2 DARS Louise Daugherty commented on gene: DARS
Possible mitochondrial disorder - nuclear genes v1.2 ATP5A1 Sarah Leigh reviewed gene: ATP5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Possible mitochondrial disorder - nuclear genes v1.2 PITRM1 Sarah Leigh commented on gene: PITRM1: Based on publications pmids 29764912; 26697887; 29383861
Possible mitochondrial disorder - nuclear genes v1.2 SACS Louise Daugherty Added comment: Comment on mode of inheritance: changed BiALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal - pipeline is case sensitive
Possible mitochondrial disorder - nuclear genes v1.2 SACS Louise Daugherty Mode of inheritance for gene: SACS was changed from BiALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v1.1 PITRM1 Sarah Leigh edited their review of gene: PITRM1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v1.1 PITRM1 Sarah Leigh reviewed gene: PITRM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Possible mitochondrial disorder - nuclear genes v1.1 PITRM1 Sarah Leigh Publications for gene: PITRM1 were set to
Possible mitochondrial disorder - nuclear genes v1.0 Ellen McDonagh promoted panel to version 1.0
Possible mitochondrial disorder - nuclear genes v0.207 Ellen McDonagh List of related panels changed from to R63
Panel types changed to GMS Rare Disease; GMS signed-off
Possible mitochondrial disorder - nuclear genes v0.206 ATP5A1 Ellen McDonagh Deleted their comment
Possible mitochondrial disorder - nuclear genes v0.206 ATP5A1 Ellen McDonagh Deleted their comment
Possible mitochondrial disorder - nuclear genes v0.206 ATP5A1 Ellen McDonagh commented on gene: ATP5A1: Due to unknown mechanism of inheritance from the mother in two of the reported cases in PMID: 23599390, it was confirmed with the Mitochondrial disease specialist group to keep this gene as Amber for now until more evidence arises.
Possible mitochondrial disorder - nuclear genes v0.206 ATP5A1 Ellen McDonagh commented on gene: ATP5A1: Due to unknown mechanism of inheritance from the mother in two of the reported cases in PMID: 23599390, it was confirmed with the Mitochondrial disease specialist group to keep this gene as Amber for now until more evidence arises.
Possible mitochondrial disorder - nuclear genes v0.206 SSBP1 Sarah Leigh Publications for gene: SSBP1 were set to
Possible mitochondrial disorder - nuclear genes v0.205 NDUFAF7 Sarah Leigh Publications for gene: NDUFAF7 were set to
Possible mitochondrial disorder - nuclear genes v0.204 SLC25A42 Eleanor Williams Added comment: Comment on phenotypes: Updated as phenotype added to OMIM in May 2019.
Possible mitochondrial disorder - nuclear genes v0.204 SLC25A42 Eleanor Williams Phenotypes for gene: SLC25A42 were changed from No OMIM phenotype to Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, 618416
Possible mitochondrial disorder - nuclear genes v0.203 PARS2 Eleanor Williams Added comment: Comment on phenotypes: Phenotype added to OMIM in May 2019
Possible mitochondrial disorder - nuclear genes v0.203 PARS2 Eleanor Williams Phenotypes for gene: PARS2 were changed from Infantile-onset encephalopathy; Alpers syndrome; Infantile-onset neurodegenerative disorder to Infantile-onset encephalopathy; Alpers syndrome; Infantile-onset neurodegenerative disorder; Epileptic encephalopathy, early infantile, 75, 61843
Possible mitochondrial disorder - nuclear genes v0.202 IARS2 Sarah Leigh Publications for gene: IARS2 were set to
Possible mitochondrial disorder - nuclear genes v0.200 POLRMT Ellen McDonagh Classified gene: POLRMT as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.200 POLRMT Ellen McDonagh Added comment: Comment on list classification: After feedback from the Genomics England Clinical Team, this gene should be kept Amber as there is currently no published cases.
Possible mitochondrial disorder - nuclear genes v0.200 POLRMT Ellen McDonagh Gene: polrmt has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.199 IDH3B Ellen McDonagh Classified gene: IDH3B as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.199 IDH3B Ellen McDonagh Added comment: Comment on list classification: It was agreed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019, that due to the organ-specific phenotype this gene should be Amber.
Possible mitochondrial disorder - nuclear genes v0.199 IDH3B Ellen McDonagh Gene: idh3b has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.198 IDH3A Ellen McDonagh Classified gene: IDH3A as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.198 IDH3A Ellen McDonagh Added comment: Comment on list classification: This gene is not associated with a disease in OMIM. One of the publications for the association given is PMID: 28412069, reporting patients with retinitis pigments accompanied by Pseudocoloboma therefore unsure if appropriate for the mitochondrial disorders panel but after feedback from the Genomics England Clinical Team should be considered for the retinal dystrophy panel. Feedback from the Genomics England clinical team was to make this Amber on the mitochondrial panels due to all but one case (reported in PMID: 28058510) are organ-specific.
Possible mitochondrial disorder - nuclear genes v0.198 IDH3A Ellen McDonagh Gene: idh3a has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.197 ATP5A1 Ellen McDonagh Added comment: Comment on publications: PMID: 23599390 - the boys were reported to have inherited a heterozygous variant from their father and don’t seem to express the maternal allele, which they conclude must be due to an unknown variant affecting expression.
Possible mitochondrial disorder - nuclear genes v0.197 ATP5A1 Ellen McDonagh Publications for gene: ATP5A1 were set to 23596069; 23599390
Possible mitochondrial disorder - nuclear genes v0.196 ATP5A1 Ellen McDonagh Added comment: Comment on publications: PMID: 23599390 - the boys were reported to have inherited a heterozygous variant from their father and don’t seem to express the maternal allele, which they conclude must be due to an unknown variant affecting expression.
Possible mitochondrial disorder - nuclear genes v0.196 ATP5A1 Ellen McDonagh Publications for gene: ATP5A1 were set to 23596069; 23599390
Possible mitochondrial disorder - nuclear genes v0.195 GATB Ellen McDonagh Classified gene: GATB as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.195 GATB Ellen McDonagh Added comment: Comment on list classification: This gene should remain Amber, as there is not enough evidence for the specific gene, as agreed for rules on gene family members.
Possible mitochondrial disorder - nuclear genes v0.195 GATB Ellen McDonagh Gene: gatb has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.194 GATC Ellen McDonagh Classified gene: GATC as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.194 GATC Ellen McDonagh Added comment: Comment on list classification: This gene should remain Amber, as there is not enough evidence for the specific gene, as agreed for rules on gene family members.
Possible mitochondrial disorder - nuclear genes v0.194 GATC Ellen McDonagh Gene: gatc has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.193 GATC Sarah Leigh Classified gene: GATC as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.193 GATC Sarah Leigh Added comment: Comment on list classification: This rating is based on the evidence that GATB, GATC & QRSL1 are functioning together in the development of this condition.
Possible mitochondrial disorder - nuclear genes v0.193 GATC Sarah Leigh Gene: gatc has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.192 GATB Sarah Leigh Classified gene: GATB as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.192 GATB Sarah Leigh Added comment: Comment on list classification: This rating is based on the evidence that GATB, GATC & QRSL1 are functioning together in the development of this condition.
Possible mitochondrial disorder - nuclear genes v0.192 GATB Sarah Leigh Gene: gatb has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.191 ATP5A1 Sarah Leigh Publications for gene: ATP5A1 were set to
Possible mitochondrial disorder - nuclear genes v0.190 NDUFA4 Sarah Leigh Phenotypes for gene: NDUFA4 were changed from No OMIM phenotype to No OMIM phenotype; Mitochondrial complex IV deficiency
Possible mitochondrial disorder - nuclear genes v0.189 FDX2 Sarah Leigh Added comment: Comment on phenotypes: New phenotype added to OMIM on 25th March 2019.
Possible mitochondrial disorder - nuclear genes v0.189 FDX2 Sarah Leigh Phenotypes for gene: FDX2 were changed from No OMIM phenotype to Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900
Possible mitochondrial disorder - nuclear genes v0.188 COA7 Sarah Leigh Added comment: Comment on phenotypes: ?Mitochondrial complex IV deficiency, 220110 has been removed from this gene as COA7 is not associated with this phenotype.
Possible mitochondrial disorder - nuclear genes v0.188 COA7 Sarah Leigh Phenotypes for gene: COA7 were changed from ?Mitochondrial complex IV deficiency, 220110; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387 to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387
Possible mitochondrial disorder - nuclear genes v0.187 C19orf70 Sarah Leigh Deleted their review
Possible mitochondrial disorder - nuclear genes v0.187 C19orf70 Sarah Leigh Deleted their comment
Possible mitochondrial disorder - nuclear genes v0.187 C19orf70 Sarah Leigh commented on gene: C19orf70
Possible mitochondrial disorder - nuclear genes v0.187 UQCRQ Ellen McDonagh Classified gene: UQCRQ as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.187 UQCRQ Ellen McDonagh Added comment: Comment on list classification: Demoted from Green to Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.187 UQCRQ Ellen McDonagh Gene: uqcrq has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.186 SDHB Ellen McDonagh Classified gene: SDHB as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.186 SDHB Ellen McDonagh Added comment: Comment on list classification: Demoted from Green to Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.186 SDHB Ellen McDonagh Gene: sdhb has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.185 SDHD Ellen McDonagh Marked gene: SDHD as ready
Possible mitochondrial disorder - nuclear genes v0.185 SDHD Ellen McDonagh Gene: sdhd has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.185 SDHAF1 Ellen McDonagh Marked gene: SDHAF1 as ready
Possible mitochondrial disorder - nuclear genes v0.185 SDHAF1 Ellen McDonagh Gene: sdhaf1 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.185 SLC25A22 Ellen McDonagh Marked gene: SLC25A22 as ready
Possible mitochondrial disorder - nuclear genes v0.185 SLC25A22 Ellen McDonagh Gene: slc25a22 has been classified as Red List (Low Evidence).
Possible mitochondrial disorder - nuclear genes v0.185 SLC25A22 Ellen McDonagh Classified gene: SLC25A22 as Red List (low evidence)
Possible mitochondrial disorder - nuclear genes v0.185 SLC25A22 Ellen McDonagh Added comment: Comment on list classification: Demoted from Green to Red due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.185 SLC25A22 Ellen McDonagh Gene: slc25a22 has been classified as Red List (Low Evidence).
Possible mitochondrial disorder - nuclear genes v0.184 POLRMT Ellen McDonagh Classified gene: POLRMT as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.184 POLRMT Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber.
Possible mitochondrial disorder - nuclear genes v0.184 POLRMT Ellen McDonagh Gene: polrmt has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.183 POLRMT Ellen McDonagh Mode of inheritance for gene: POLRMT was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.182 UQCRB Ellen McDonagh Marked gene: UQCRB as ready
Possible mitochondrial disorder - nuclear genes v0.182 UQCRB Ellen McDonagh Gene: uqcrb has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.182 UQCRB Ellen McDonagh Publications for gene: UQCRB were set to
Possible mitochondrial disorder - nuclear genes v0.181 UQCRB Ellen McDonagh Classified gene: UQCRB as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.181 UQCRB Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. Two unrelated cases reported (both with deletions) and supporting functional evidence.
Possible mitochondrial disorder - nuclear genes v0.181 UQCRB Ellen McDonagh Gene: uqcrb has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.180 UQCC2 Ellen McDonagh Marked gene: UQCC2 as ready
Possible mitochondrial disorder - nuclear genes v0.180 UQCC2 Ellen McDonagh Gene: uqcc2 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.180 UQCC2 Ellen McDonagh Publications for gene: UQCC2 were set to
Possible mitochondrial disorder - nuclear genes v0.179 UQCC2 Ellen McDonagh Classified gene: UQCC2 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.179 UQCC2 Ellen McDonagh Added comment: Comment on list classification: his gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. Two unrelated cases reported, with functional supporting evidence.
Possible mitochondrial disorder - nuclear genes v0.179 UQCC2 Ellen McDonagh Gene: uqcc2 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.178 TRMT10C Ellen McDonagh Marked gene: TRMT10C as ready
Possible mitochondrial disorder - nuclear genes v0.178 TRMT10C Ellen McDonagh Gene: trmt10c has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.178 TRMT10C Ellen McDonagh Classified gene: TRMT10C as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.178 TRMT10C Ellen McDonagh Gene: trmt10c has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.177 TRMT10C Ellen McDonagh Classified gene: TRMT10C as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.177 TRMT10C Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.177 TRMT10C Ellen McDonagh Gene: trmt10c has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.176 TRMT10C Ellen McDonagh Publications for gene: TRMT10C were set to
Possible mitochondrial disorder - nuclear genes v0.175 TOP3A Ellen McDonagh Marked gene: TOP3A as ready
Possible mitochondrial disorder - nuclear genes v0.175 TOP3A Ellen McDonagh Gene: top3a has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.175 TOP3A Ellen McDonagh Classified gene: TOP3A as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.175 TOP3A Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.175 TOP3A Ellen McDonagh Gene: top3a has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.174 TIMM44 Ellen McDonagh Marked gene: TIMM44 as ready
Possible mitochondrial disorder - nuclear genes v0.174 TIMM44 Ellen McDonagh Gene: timm44 has been classified as Red List (Low Evidence).
Possible mitochondrial disorder - nuclear genes v0.174 TIMM44 Ellen McDonagh Classified gene: TIMM44 as Red List (low evidence)
Possible mitochondrial disorder - nuclear genes v0.174 TIMM44 Ellen McDonagh Gene: timm44 has been classified as Red List (Low Evidence).
Possible mitochondrial disorder - nuclear genes v0.173 TIMM44 Ellen McDonagh Classified gene: TIMM44 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.173 TIMM44 Ellen McDonagh Added comment: Comment on list classification: This gene was demoted from Amber to Red due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.173 TIMM44 Ellen McDonagh Gene: timm44 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.172 SLC25A32 Ellen McDonagh Classified gene: SLC25A32 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.172 SLC25A32 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.172 SLC25A32 Ellen McDonagh Gene: slc25a32 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.171 SLC25A32 Ellen McDonagh commented on gene: SLC25A32
Possible mitochondrial disorder - nuclear genes v0.171 SLC25A32 Ellen McDonagh Tag treatable tag was added to gene: SLC25A32.
Possible mitochondrial disorder - nuclear genes v0.171 SLC25A32 Ellen McDonagh Publications for gene: SLC25A32 were set to
Possible mitochondrial disorder - nuclear genes v0.170 SFXN4 Ellen McDonagh Marked gene: SFXN4 as ready
Possible mitochondrial disorder - nuclear genes v0.170 SFXN4 Ellen McDonagh Gene: sfxn4 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.170 SFXN4 Ellen McDonagh Classified gene: SFXN4 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.170 SFXN4 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. PMID: 24119684 describes 2 unrelated patients with different variants in this gene, and a knockdown zebrafish model with global mitochondrial and respiratory chain defects.
Possible mitochondrial disorder - nuclear genes v0.170 SFXN4 Ellen McDonagh Gene: sfxn4 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.169 PNPLA8 Ellen McDonagh Marked gene: PNPLA8 as ready
Possible mitochondrial disorder - nuclear genes v0.169 PNPLA8 Ellen McDonagh Gene: pnpla8 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.169 PNPLA8 Ellen McDonagh Classified gene: PNPLA8 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.169 PNPLA8 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.169 PNPLA8 Ellen McDonagh Gene: pnpla8 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.168 PMPCB Ellen McDonagh Classified gene: PMPCB as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.168 PMPCB Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.168 PMPCB Ellen McDonagh Gene: pmpcb has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.167 PMPCB Ellen McDonagh Phenotypes for gene: PMPCB were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6, 617954 to Multiple mitochondrial dysfunctions syndrome 6, 617954
Possible mitochondrial disorder - nuclear genes v0.166 PMPCB Ellen McDonagh Publications for gene: PMPCB were set to
Possible mitochondrial disorder - nuclear genes v0.165 NNT Ellen McDonagh Marked gene: NNT as ready
Possible mitochondrial disorder - nuclear genes v0.165 NNT Ellen McDonagh Gene: nnt has been classified as Red List (Low Evidence).
Possible mitochondrial disorder - nuclear genes v0.165 NNT Ellen McDonagh Publications for gene: NNT were set to
Possible mitochondrial disorder - nuclear genes v0.164 NNT Ellen McDonagh Classified gene: NNT as Red List (low evidence)
Possible mitochondrial disorder - nuclear genes v0.164 NNT Ellen McDonagh Added comment: Comment on list classification: This gene was demoted from Amber to Red, due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.164 NNT Ellen McDonagh Gene: nnt has been classified as Red List (Low Evidence).
Possible mitochondrial disorder - nuclear genes v0.163 NDUFB8 Ellen McDonagh Marked gene: NDUFB8 as ready
Possible mitochondrial disorder - nuclear genes v0.163 NDUFB8 Ellen McDonagh Gene: ndufb8 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.163 NDUFB8 Ellen McDonagh Publications for gene: NDUFB8 were set to
Possible mitochondrial disorder - nuclear genes v0.162 NDUFB8 Ellen McDonagh Classified gene: NDUFB8 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.162 NDUFB8 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.162 NDUFB8 Ellen McDonagh Gene: ndufb8 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.161 NDUFAF8 Ellen McDonagh Marked gene: NDUFAF8 as ready
Possible mitochondrial disorder - nuclear genes v0.161 NDUFAF8 Ellen McDonagh Gene: ndufaf8 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.161 NDUFAF8 Ellen McDonagh Classified gene: NDUFAF8 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.161 NDUFAF8 Ellen McDonagh Added comment: Comment on list classification: Promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.161 NDUFAF8 Ellen McDonagh Gene: ndufaf8 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.160 NDUFA9 Ellen McDonagh Marked gene: NDUFA9 as ready
Possible mitochondrial disorder - nuclear genes v0.160 NDUFA9 Ellen McDonagh Gene: ndufa9 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.160 NDUFA9 Ellen McDonagh Publications for gene: NDUFA9 were set to
Possible mitochondrial disorder - nuclear genes v0.159 NDUFA9 Ellen McDonagh Classified gene: NDUFA9 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.159 NDUFA9 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. Two unrelated families, with functional evidence.
Possible mitochondrial disorder - nuclear genes v0.159 NDUFA9 Ellen McDonagh Gene: ndufa9 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.158 NDUFA6 Ellen McDonagh Marked gene: NDUFA6 as ready
Possible mitochondrial disorder - nuclear genes v0.158 NDUFA6 Ellen McDonagh Gene: ndufa6 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.158 NDUFA6 Ellen McDonagh Publications for gene: NDUFA6 were set to
Possible mitochondrial disorder - nuclear genes v0.157 NDUFA6 Ellen McDonagh Classified gene: NDUFA6 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.157 NDUFA6 Ellen McDonagh Added comment: Comment on list classification: This gene has been promoted to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. PMID: 30245030 reports four unrelated children who presented with neuroradiological findings and/or elevated lactate levels, with biallelic variants in this gene, plus functional studies.
Possible mitochondrial disorder - nuclear genes v0.157 NDUFA6 Ellen McDonagh Gene: ndufa6 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.156 NDUFA4 Ellen McDonagh Classified gene: NDUFA4 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.156 NDUFA4 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.156 NDUFA4 Ellen McDonagh Gene: ndufa4 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.155 MSTO1 Ellen McDonagh Marked gene: MSTO1 as ready
Possible mitochondrial disorder - nuclear genes v0.155 MSTO1 Ellen McDonagh Gene: msto1 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.155 MSTO1 Ellen McDonagh Classified gene: MSTO1 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.155 MSTO1 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.155 MSTO1 Ellen McDonagh Gene: msto1 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.154 MSTO1 Ellen McDonagh Publications for gene: MSTO1 were set to
Possible mitochondrial disorder - nuclear genes v0.153 MRPS2 Ellen McDonagh Marked gene: MRPS2 as ready
Possible mitochondrial disorder - nuclear genes v0.153 MRPS2 Ellen McDonagh Gene: mrps2 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.153 MRPS2 Ellen McDonagh Classified gene: MRPS2 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.153 MRPS2 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.153 MRPS2 Ellen McDonagh Gene: mrps2 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.152 MRPL3 Ellen McDonagh Marked gene: MRPL3 as ready
Possible mitochondrial disorder - nuclear genes v0.152 MRPL3 Ellen McDonagh Gene: mrpl3 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.152 MRPL3 Ellen McDonagh Classified gene: MRPL3 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.152 MRPL3 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.152 MRPL3 Ellen McDonagh Gene: mrpl3 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.151 FDX2 Ellen McDonagh Marked gene: FDX2 as ready
Possible mitochondrial disorder - nuclear genes v0.151 FDX2 Ellen McDonagh Gene: fdx2 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.151 FDX2 Ellen McDonagh Classified gene: FDX2 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.151 FDX2 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.151 FDX2 Ellen McDonagh Gene: fdx2 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.150 DNM2 Ellen McDonagh Marked gene: DNM2 as ready
Possible mitochondrial disorder - nuclear genes v0.150 DNM2 Ellen McDonagh Gene: dnm2 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.150 DNM2 Ellen McDonagh Publications for gene: DNM2 were set to 25492887, 25492887 (abstract)
Possible mitochondrial disorder - nuclear genes v0.149 DNM2 Ellen McDonagh Classified gene: DNM2 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.149 DNM2 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.149 DNM2 Ellen McDonagh Gene: dnm2 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.148 COX5B Ellen McDonagh Marked gene: COX5B as ready
Possible mitochondrial disorder - nuclear genes v0.148 COX5B Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.148 COX5B Ellen McDonagh Gene: cox5b has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.148 COX5A Ellen McDonagh Marked gene: COX5A as ready
Possible mitochondrial disorder - nuclear genes v0.148 COX5A Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.148 COX5A Ellen McDonagh Gene: cox5a has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.148 COX4I2 Ellen McDonagh Marked gene: COX4I2 as ready
Possible mitochondrial disorder - nuclear genes v0.148 COX4I2 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.148 COX4I2 Ellen McDonagh Gene: cox4i2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.148 COX4I1 Ellen McDonagh Marked gene: COX4I1 as ready
Possible mitochondrial disorder - nuclear genes v0.148 COX4I1 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.148 COX4I1 Ellen McDonagh Gene: cox4i1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.148 COX19 Ellen McDonagh Marked gene: COX19 as ready
Possible mitochondrial disorder - nuclear genes v0.148 COX19 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.148 COX19 Ellen McDonagh Gene: cox19 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.148 COX18 Ellen McDonagh Marked gene: COX18 as ready
Possible mitochondrial disorder - nuclear genes v0.148 COX18 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.148 COX18 Ellen McDonagh Gene: cox18 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.148 COX17 Ellen McDonagh Marked gene: COX17 as ready
Possible mitochondrial disorder - nuclear genes v0.148 COX17 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.148 COX17 Ellen McDonagh Gene: cox17 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.148 COX16 Ellen McDonagh Marked gene: COX16 as ready
Possible mitochondrial disorder - nuclear genes v0.148 COX16 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.148 COX16 Ellen McDonagh Gene: cox16 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.148 COX11 Ellen McDonagh Marked gene: COX11 as ready
Possible mitochondrial disorder - nuclear genes v0.148 COX11 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.148 COX11 Ellen McDonagh Gene: cox11 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.148 COQ7 Ellen McDonagh Marked gene: COQ7 as ready
Possible mitochondrial disorder - nuclear genes v0.148 COQ7 Ellen McDonagh Gene: coq7 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.148 COQ7 Ellen McDonagh Classified gene: COQ7 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.148 COQ7 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. Three unrelated patients reported, with different variants causing amino acid changes.
Possible mitochondrial disorder - nuclear genes v0.148 COQ7 Ellen McDonagh Gene: coq7 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.147 COQ7 Ellen McDonagh Publications for gene: COQ7 were set to 28409910
Possible mitochondrial disorder - nuclear genes v0.146 COQ5 Ellen McDonagh Marked gene: COQ5 as ready
Possible mitochondrial disorder - nuclear genes v0.146 COQ5 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.146 COQ5 Ellen McDonagh Gene: coq5 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.146 COA7 Ellen McDonagh Marked gene: COA7 as ready
Possible mitochondrial disorder - nuclear genes v0.146 COA7 Ellen McDonagh Gene: coa7 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.146 COA7 Ellen McDonagh Phenotypes for gene: COA7 were changed from ?Mitochondrial complex IV deficiency, 220110 to ?Mitochondrial complex IV deficiency, 220110; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387
Possible mitochondrial disorder - nuclear genes v0.145 COA7 Ellen McDonagh Publications for gene: COA7 were set to
Possible mitochondrial disorder - nuclear genes v0.144 COA7 Ellen McDonagh Classified gene: COA7 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.144 COA7 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.144 COA7 Ellen McDonagh Gene: coa7 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.143 COA6 Ellen McDonagh Marked gene: COA6 as ready
Possible mitochondrial disorder - nuclear genes v0.143 COA6 Ellen McDonagh Gene: coa6 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.143 COA6 Ellen McDonagh Publications for gene: COA6 were set to
Possible mitochondrial disorder - nuclear genes v0.142 COA6 Ellen McDonagh Classified gene: COA6 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.142 COA6 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. Two unrelated cases (with different variants) reported, with supporting functional evidence including a knockout zebrafish model.
Possible mitochondrial disorder - nuclear genes v0.142 COA6 Ellen McDonagh Gene: coa6 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.141 COA5 Ellen McDonagh Marked gene: COA5 as ready
Possible mitochondrial disorder - nuclear genes v0.141 COA5 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.141 COA5 Ellen McDonagh Gene: coa5 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.141 COA5 Ellen McDonagh Publications for gene: COA5 were set to
Possible mitochondrial disorder - nuclear genes v0.140 COA4 Ellen McDonagh Marked gene: COA4 as ready
Possible mitochondrial disorder - nuclear genes v0.140 COA4 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.140 COA4 Ellen McDonagh Gene: coa4 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.140 COA3 Ellen McDonagh Marked gene: COA3 as ready
Possible mitochondrial disorder - nuclear genes v0.140 COA3 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.140 COA3 Ellen McDonagh Gene: coa3 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.140 COA1 Ellen McDonagh Marked gene: COA1 as ready
Possible mitochondrial disorder - nuclear genes v0.140 COA1 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.140 COA1 Ellen McDonagh Gene: coa1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.140 CEP89 Ellen McDonagh Marked gene: CEP89 as ready
Possible mitochondrial disorder - nuclear genes v0.140 CEP89 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.140 CEP89 Ellen McDonagh Gene: cep89 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.140 CA5A Ellen McDonagh Marked gene: CA5A as ready
Possible mitochondrial disorder - nuclear genes v0.140 CA5A Ellen McDonagh Gene: ca5a has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.140 CA5A Ellen McDonagh Classified gene: CA5A as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.140 CA5A Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.140 CA5A Ellen McDonagh Gene: ca5a has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.139 CA5A Ellen McDonagh Publications for gene: CA5A were set to
Possible mitochondrial disorder - nuclear genes v0.138 C19orf70 Ellen McDonagh Marked gene: C19orf70 as ready
Possible mitochondrial disorder - nuclear genes v0.138 C19orf70 Ellen McDonagh Gene: c19orf70 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.138 C19orf70 Ellen McDonagh Classified gene: C19orf70 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.138 C19orf70 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.138 C19orf70 Ellen McDonagh Gene: c19orf70 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.137 ATPAF1 Ellen McDonagh Marked gene: ATPAF1 as ready
Possible mitochondrial disorder - nuclear genes v0.137 ATPAF1 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.137 ATPAF1 Ellen McDonagh Gene: atpaf1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.137 ATP5O Ellen McDonagh Marked gene: ATP5O as ready
Possible mitochondrial disorder - nuclear genes v0.137 ATP5O Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.137 ATP5O Ellen McDonagh Gene: atp5o has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.137 ATP5L2 Ellen McDonagh Marked gene: ATP5L2 as ready
Possible mitochondrial disorder - nuclear genes v0.137 ATP5L2 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.137 ATP5L2 Ellen McDonagh Gene: atp5l2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.137 ATP5L Ellen McDonagh Marked gene: ATP5L as ready
Possible mitochondrial disorder - nuclear genes v0.137 ATP5L Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.137 ATP5L Ellen McDonagh Gene: atp5l has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.137 ATP5J2 Ellen McDonagh Marked gene: ATP5J2 as ready
Possible mitochondrial disorder - nuclear genes v0.137 ATP5J2 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.137 ATP5J2 Ellen McDonagh Gene: atp5j2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.137 ATP5J Ellen McDonagh Marked gene: ATP5J as ready
Possible mitochondrial disorder - nuclear genes v0.137 ATP5J Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.137 ATP5J Ellen McDonagh Gene: atp5j has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.137 ATP5I Ellen McDonagh Marked gene: ATP5I as ready
Possible mitochondrial disorder - nuclear genes v0.137 ATP5I Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.137 ATP5I Ellen McDonagh Gene: atp5i has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.137 ATP5H Ellen McDonagh Marked gene: ATP5H as ready
Possible mitochondrial disorder - nuclear genes v0.137 ATP5H Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.137 ATP5H Ellen McDonagh Gene: atp5h has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.137 ATP5G3 Ellen McDonagh Marked gene: ATP5G3 as ready
Possible mitochondrial disorder - nuclear genes v0.137 ATP5G3 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.137 ATP5G3 Ellen McDonagh Gene: atp5g3 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.137 ATP5G2 Ellen McDonagh Marked gene: ATP5G2 as ready
Possible mitochondrial disorder - nuclear genes v0.137 ATP5G2 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.137 ATP5G2 Ellen McDonagh Gene: atp5g2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.137 ATP5G1 Ellen McDonagh Marked gene: ATP5G1 as ready
Possible mitochondrial disorder - nuclear genes v0.137 ATP5G1 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.137 ATP5G1 Ellen McDonagh Gene: atp5g1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.137 ATP5F1 Ellen McDonagh Marked gene: ATP5F1 as ready
Possible mitochondrial disorder - nuclear genes v0.137 ATP5F1 Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.137 ATP5F1 Ellen McDonagh Gene: atp5f1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.137 ATP5E Ellen McDonagh Marked gene: ATP5E as ready
Possible mitochondrial disorder - nuclear genes v0.137 ATP5E Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.137 ATP5E Ellen McDonagh Gene: atp5e has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.137 ATP5E Ellen McDonagh Publications for gene: ATP5E were set to
Possible mitochondrial disorder - nuclear genes v0.136 ATP5D Ellen McDonagh Marked gene: ATP5D as ready
Possible mitochondrial disorder - nuclear genes v0.136 ATP5D Ellen McDonagh Gene: atp5d has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.136 ATP5D Ellen McDonagh Classified gene: ATP5D as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.136 ATP5D Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.136 ATP5D Ellen McDonagh Gene: atp5d has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.135 ATP5D Ellen McDonagh Publications for gene: ATP5D were set to
Possible mitochondrial disorder - nuclear genes v0.134 ATP5C1 Ellen McDonagh Marked gene: ATP5C1 as ready
Possible mitochondrial disorder - nuclear genes v0.134 ATP5C1 Ellen McDonagh Added comment: Comment when marking as ready: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.134 ATP5C1 Ellen McDonagh Gene: atp5c1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.134 ATP5B Ellen McDonagh Marked gene: ATP5B as ready
Possible mitochondrial disorder - nuclear genes v0.134 ATP5B Ellen McDonagh Added comment: Comment when marking as ready: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder - nuclear genes v0.134 ATP5B Ellen McDonagh Gene: atp5b has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.134 SDHD Carl Fratter reviewed gene: SDHD: Rating: GREEN; Mode of pathogenicity: ; Publications: 24367056, 26008905; Phenotypes: Mitochondrial respiratory chain complex II deficiency, 252011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 SDHB Carl Fratter reviewed gene: SDHB: Rating: AMBER; Mode of pathogenicity: ; Publications: 22972948; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 SDHAF1 Carl Fratter reviewed gene: SDHAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19465911, 22995659, 26642834; Phenotypes: Mitochondrial respiratory chain complex II deficiency, 252011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 UQCRQ Carl Fratter reviewed gene: UQCRQ: Rating: AMBER; Mode of pathogenicity: ; Publications: 18439546; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4, 615159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 SLC25A22 Carl Fratter reviewed gene: SLC25A22: Rating: RED; Mode of pathogenicity: ; Publications: 19780765, 15592994, 24596948; Phenotypes: Epileptic encephalopathy, early infantile, 3, 609304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 POLRMT Carl Fratter reviewed gene: POLRMT: Rating: GREEN; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 YME1L1 Carl Fratter reviewed gene: YME1L1: Rating: AMBER; Mode of pathogenicity: ; Publications: 27495975; Phenotypes: ?Optic atrophy 11, 617302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 UQCRH Carl Fratter reviewed gene: UQCRH: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 UQCRFS1 Carl Fratter reviewed gene: UQCRFS1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 UQCRC2 Carl Fratter reviewed gene: UQCRC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 28275242, 23281071; Phenotypes: Mitochondrial complex III deficiency, nuclear type 5, 615160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 UQCRC1 Carl Fratter reviewed gene: UQCRC1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 UQCRB Carl Fratter reviewed gene: UQCRB: Rating: GREEN; Mode of pathogenicity: ; Publications: 12709789, 25446085, 28604960; Phenotypes: Mitochondrial complex III deficiency, nuclear type 3, 615158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 UQCR11 Carl Fratter reviewed gene: UQCR11: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 UQCR10 Carl Fratter reviewed gene: UQCR10: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 UQCC3 Carl Fratter reviewed gene: UQCC3: Rating: AMBER; Mode of pathogenicity: ; Publications: 25008109; Phenotypes: ?Mitochondrial complex III deficiency, nuclear type 9, 616111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 UQCC2 Carl Fratter reviewed gene: UQCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28804536, 24385928; Phenotypes: Mitochondrial complex III deficiency, nuclear type 7, 615824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 UQCC1 Carl Fratter reviewed gene: UQCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 TXN2 Carl Fratter reviewed gene: TXN2: Rating: AMBER; Mode of pathogenicity: ; Publications: 26626369; Phenotypes: ?Combined oxidative phosphorylation deficiency 29, 616811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 TRMT10C Carl Fratter reviewed gene: TRMT10C: Rating: GREEN; Mode of pathogenicity: ; Publications: 27132592; Phenotypes: Combined oxidative phosphorylation deficiency 30, 616974; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 TOP3A Carl Fratter reviewed gene: TOP3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 29290614; Phenotypes: ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 TMEM65 Carl Fratter reviewed gene: TMEM65: Rating: AMBER; Mode of pathogenicity: ; Publications: 28295037; Phenotypes: TMEM65 related mitochondrial encephalopmyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 TIMMDC1 Carl Fratter reviewed gene: TIMMDC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28604674; Phenotypes: Mitochondrial complex I deficiency, nuclear type 31, 618251; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 TIMM44 Carl Fratter reviewed gene: TIMM44: Rating: RED; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 TIMM22 Carl Fratter reviewed gene: TIMM22: Rating: AMBER; Mode of pathogenicity: ; Publications: 30452684; Phenotypes: Mitochondrial carrier translocase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 TFAM Carl Fratter reviewed gene: TFAM: Rating: AMBER; Mode of pathogenicity: ; Publications: 27448789; Phenotypes: ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 TARS2 Carl Fratter reviewed gene: TARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: 24827421, 26811336; Phenotypes: ?Combined oxidative phosphorylation deficiency 21, 615918; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 SLC25A32 Carl Fratter reviewed gene: SLC25A32: Rating: GREEN; Mode of pathogenicity: ; Publications: 26933868, 28443623; Phenotypes: ?Exercise intolerance, riboflavin-responsive, 616839; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 SLC25A21 Carl Fratter reviewed gene: SLC25A21: Rating: AMBER; Mode of pathogenicity: ; Publications: 29517768; Phenotypes: Mitochondrial oxodicarboxylate carrier deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 SFXN4 Carl Fratter reviewed gene: SFXN4: Rating: GREEN; Mode of pathogenicity: ; Publications: 24119684; Phenotypes: Combined oxidative phosphorylation deficiency 18, 615578; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 SDHC Carl Fratter reviewed gene: SDHC: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 SDHAF4 Carl Fratter reviewed gene: SDHAF4: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 SDHAF3 Carl Fratter reviewed gene: SDHAF3: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 SDHAF2 Carl Fratter reviewed gene: SDHAF2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 PTCD3 Carl Fratter reviewed gene: PTCD3: Rating: AMBER; Mode of pathogenicity: ; Publications: 30607703; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 PNPLA8 Carl Fratter reviewed gene: PNPLA8: Rating: GREEN; Mode of pathogenicity: ; Publications: 29681094, 25512002, 25473036; Phenotypes: ?Mitochondrial myopathy with lactic acidosis, 251950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 PMPCB Carl Fratter reviewed gene: PMPCB: Rating: GREEN; Mode of pathogenicity: ; Publications: 29576218; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6, 617954; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 PET117 Carl Fratter reviewed gene: PET117: Rating: AMBER; Mode of pathogenicity: ; Publications: 28386624; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 OXA1L Carl Fratter reviewed gene: OXA1L: Rating: AMBER; Mode of pathogenicity: ; Publications: 30201738; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 NSUN3 Carl Fratter reviewed gene: NSUN3: Rating: AMBER; Mode of pathogenicity: ; Publications: 27356879; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 NNT Carl Fratter reviewed gene: NNT: Rating: RED; Mode of pathogenicity: ; Publications: 27129361; Phenotypes: Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 NFS1 Carl Fratter reviewed gene: NFS1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24498631; Phenotypes: Infantile mitochondrial complex II/III deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 NDUFV3 Carl Fratter reviewed gene: NDUFV3: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 NDUFS5 Carl Fratter reviewed gene: NDUFS5: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 NDUFC2 Carl Fratter reviewed gene: NDUFC2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 NDUFC1 Carl Fratter reviewed gene: NDUFC1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 NDUFB9 Carl Fratter reviewed gene: NDUFB9: Rating: AMBER; Mode of pathogenicity: ; Publications: 22200994; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 24, 618245; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 NDUFB8 Carl Fratter reviewed gene: NDUFB8: Rating: GREEN; Mode of pathogenicity: ; Publications: 27290639, 29429571; Phenotypes: Mitochondrial complex I deficiency, nuclear type 32, 618252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 NDUFB7 Carl Fratter reviewed gene: NDUFB7: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 NDUFB6 Carl Fratter reviewed gene: NDUFB6: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 NDUFB5 Carl Fratter reviewed gene: NDUFB5: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 NDUFB4 Carl Fratter reviewed gene: NDUFB4: Rating: AMBER; Mode of pathogenicity: ; Publications: 28454995; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 NDUFB2 Carl Fratter reviewed gene: NDUFB2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 NDUFB10 Carl Fratter reviewed gene: NDUFB10: Rating: AMBER; Mode of pathogenicity: ; Publications: 28040730; Phenotypes: Mitochondrial complex I deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 NDUFB1 Carl Fratter reviewed gene: NDUFB1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 NDUFAF8 Carl Fratter reviewed gene: NDUFAF8: Rating: GREEN; Mode of pathogenicity: ; Publications: 27499296; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 NDUFAF7 Carl Fratter reviewed gene: NDUFAF7: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 NDUFAB1 Carl Fratter reviewed gene: NDUFAB1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 NDUFA9 Carl Fratter reviewed gene: NDUFA9: Rating: GREEN; Mode of pathogenicity: ; Publications: 22114105, 28671271; Phenotypes: Mitochondrial complex I deficiency, nuclear type 26, 618247; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 NDUFA8 Carl Fratter reviewed gene: NDUFA8: Rating: AMBER; Mode of pathogenicity: ; Publications: 15576045; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 NDUFA7 Carl Fratter reviewed gene: NDUFA7: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 NDUFA6 Carl Fratter reviewed gene: NDUFA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 30245030; Phenotypes: Mitochondrial complex I deficiency, nuclear type 33, 618253; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 NDUFA5 Carl Fratter reviewed gene: NDUFA5: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 NDUFA4 Carl Fratter reviewed gene: NDUFA4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23746447, 29636225; Phenotypes: Mitochondrial complex IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 NDUFA3 Carl Fratter reviewed gene: NDUFA3: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 NDUFA13 Carl Fratter reviewed gene: NDUFA13: Rating: AMBER; Mode of pathogenicity: ; Publications: 25901006; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 28, 618249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 NDUFA12 Carl Fratter reviewed gene: NDUFA12: Rating: AMBER; Mode of pathogenicity: ; Publications: 21617257; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 23, 618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 MSTO1 Carl Fratter reviewed gene: MSTO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28554942, 28544275, 29339779; Phenotypes: Myopathy, mitochondrial, and ataxia, 617675; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 MRPS7 Carl Fratter reviewed gene: MRPS7: Rating: AMBER; Mode of pathogenicity: ; Publications: 25556185; Phenotypes: ?Combined oxidative phosphorylation deficiency 34, 617872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 MRPS23 Carl Fratter reviewed gene: MRPS23: Rating: AMBER; Mode of pathogenicity: ; Publications: 26741492; Phenotypes: Combined oxidative phosphorylation deficiency, Hepatic disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 MRPS2 Carl Fratter reviewed gene: MRPS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29576219; Phenotypes: Combined oxidative phosphorylation deficiency 36, 617950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 MRPS16 Carl Fratter reviewed gene: MRPS16: Rating: AMBER; Mode of pathogenicity: ; Publications: 28749478, 15505824; Phenotypes: Combined oxidative phosphorylation deficiency 2, 610498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 MRPS14 Carl Fratter reviewed gene: MRPS14: Rating: AMBER; Mode of pathogenicity: ; Publications: 30358850; Phenotypes: ?Combined oxidative phosphorylation deficiency 38, 618378; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 MRPL3 Carl Fratter reviewed gene: MRPL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 21786366, 27815843; Phenotypes: Combined oxidative phosphorylation deficiency 9, 614582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 MRPL12 Carl Fratter reviewed gene: MRPL12: Rating: AMBER; Mode of pathogenicity: ; Publications: 23603806; Phenotypes: Growth retardation and neurological deterioration; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 MRM2 Carl Fratter reviewed gene: MRM2: Rating: AMBER; Mode of pathogenicity: ; Publications: 28973171; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 LYRM4 Carl Fratter reviewed gene: LYRM4: Rating: AMBER; Mode of pathogenicity: ; Publications: 23814038; Phenotypes: ?Combined oxidative phosphorylation deficiency 19, 615595; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 IDH3B Carl Fratter reviewed gene: IDH3B: Rating: GREEN; Mode of pathogenicity: ; Publications: 18806796; Phenotypes: Retinitis pigmentosa 46, 612572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 IDH3A Carl Fratter reviewed gene: IDH3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 28412069, 28058510; Phenotypes: Infantile encephalopathy, Retinitis pigmentosa with macular pseudocoloboma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 GATC Carl Fratter reviewed gene: GATC: Rating: GREEN; Mode of pathogenicity: ; Publications: 30283131; Phenotypes: Mitochondrial cardiomyopathy disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 GATB Carl Fratter reviewed gene: GATB: Rating: GREEN; Mode of pathogenicity: ; Publications: 30283131; Phenotypes: Mitochondrial cardiomyopathy disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 FDX2 Carl Fratter reviewed gene: FDX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30010796, 28803783, 24281368; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 ERAL1 Carl Fratter reviewed gene: ERAL1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28449065; Phenotypes: Perrault syndrome 6, 617565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 DNM2 Carl Fratter reviewed gene: DNM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25492887, 25492887 (abstract); Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate B, 606482, Charcot-Marie-Tooth disease, axonal type 2M, 606482, Centronuclear myopathy 1, 160150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Possible mitochondrial disorder - nuclear genes v0.134 COX8A Carl Fratter reviewed gene: COX8A: Rating: AMBER; Mode of pathogenicity: ; Publications: 26685157; Phenotypes: ?Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 COX7C Carl Fratter reviewed gene: COX7C: Rating: AMBER; Mode of pathogenicity: ; Publications: 30634555; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 COX7A1 Carl Fratter reviewed gene: COX7A1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 COX6C Carl Fratter reviewed gene: COX6C: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 COX6B2 Carl Fratter reviewed gene: COX6B2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 COX6A2 Carl Fratter reviewed gene: COX6A2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 COX5B Carl Fratter reviewed gene: COX5B: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 COX5A Carl Fratter reviewed gene: COX5A: Rating: AMBER; Mode of pathogenicity: ; Publications: 28247525; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 COX4I2 Carl Fratter reviewed gene: COX4I2: Rating: AMBER; Mode of pathogenicity: ; Publications: 19268275; Phenotypes: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 COX4I1 Carl Fratter reviewed gene: COX4I1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28766551; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 COX19 Carl Fratter reviewed gene: COX19: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 COX18 Carl Fratter reviewed gene: COX18: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 COX17 Carl Fratter reviewed gene: COX17: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 COX16 Carl Fratter reviewed gene: COX16: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 COX11 Carl Fratter reviewed gene: COX11: Rating: AMBER; Mode of pathogenicity: ; Publications: no mito reports found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 COQ7 Carl Fratter reviewed gene: COQ7: Rating: GREEN; Mode of pathogenicity: ; Publications: 28409910, 26084283, 30369941; Phenotypes: ?Coenzyme Q10 deficiency, primary, 8, 616733; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 COQ5 Carl Fratter reviewed gene: COQ5: Rating: AMBER; Mode of pathogenicity: ; Publications: 29044765; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 COA7 Carl Fratter reviewed gene: COA7: Rating: GREEN; Mode of pathogenicity: ; Publications: 29718187, 27683825; Phenotypes: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 COA6 Carl Fratter reviewed gene: COA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 22277967, 24549041, 25959673, 25339201; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 COA5 Carl Fratter edited their review of gene: COA5: Added comment: Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 1 reported family (2 sibs) with functional studies; Changed publications: 21457908; Changed phenotypes: ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500
Possible mitochondrial disorder - nuclear genes v0.134 COA4 Carl Fratter reviewed gene: COA4: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 COA3 Carl Fratter edited their review of gene: COA3: Added comment: Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 1 reported case with functional studies; Changed publications: 25604084; Changed phenotypes: No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.134 COA1 Carl Fratter reviewed gene: COA1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 CEP89 Carl Fratter reviewed gene: CEP89: Rating: AMBER; Mode of pathogenicity: ; Publications: 23575228; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 CA5A Carl Fratter reviewed gene: CA5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 26913920, 24530203; Phenotypes: Hyperammonemia due to carbonic anhydrase VA deficiency, 615751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 C19orf70 Carl Fratter reviewed gene: C19orf70: Rating: GREEN; Mode of pathogenicity: ; Publications: 29618761, 27485409, 27623147; Phenotypes: Combined oxidative phosphorylation deficiency 37, 618329; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 ATPAF1 Carl Fratter reviewed gene: ATPAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 ATP5O Carl Fratter reviewed gene: ATP5O: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 ATP5L2 Carl Fratter reviewed gene: ATP5L2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 ATP5L Carl Fratter reviewed gene: ATP5L: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 ATP5J2 Carl Fratter reviewed gene: ATP5J2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 ATP5J Carl Fratter reviewed gene: ATP5J: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 ATP5I Carl Fratter reviewed gene: ATP5I: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 ATP5H Carl Fratter reviewed gene: ATP5H: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 ATP5G3 Carl Fratter reviewed gene: ATP5G3: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 ATP5G2 Carl Fratter reviewed gene: ATP5G2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 ATP5G1 Carl Fratter reviewed gene: ATP5G1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 ATP5F1 Carl Fratter reviewed gene: ATP5F1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 ATP5E Carl Fratter reviewed gene: ATP5E: Rating: AMBER; Mode of pathogenicity: ; Publications: 20566710, 25954304; Phenotypes: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 ATP5D Carl Fratter reviewed gene: ATP5D: Rating: GREEN; Mode of pathogenicity: ; Publications: 29478781; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, 618120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.134 ATP5C1 Carl Fratter reviewed gene: ATP5C1: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 ATP5B Carl Fratter reviewed gene: ATP5B: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.134 ATP5A1 Carl Fratter reviewed gene: ATP5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23596069, 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
Possible mitochondrial disorder - nuclear genes v0.133 SDHD Ellen McDonagh Added phenotypes Mitochondrial respiratory chain complex II deficiency, 252011 for gene: SDHD
Publications for gene SDHD were changed from to 26008905; 24367056
Possible mitochondrial disorder - nuclear genes v0.133 SDHB Ellen McDonagh Added phenotypes No OMIM phenotype for gene: SDHB
Possible mitochondrial disorder - nuclear genes v0.133 SDHAF1 Ellen McDonagh Added phenotypes Mitochondrial respiratory chain complex II deficiency, 252011 for gene: SDHAF1
Publications for gene SDHAF1 were changed from to 22995659; 26642834; 19465911
Possible mitochondrial disorder - nuclear genes v0.133 UQCRQ Ellen McDonagh Added phenotypes Mitochondrial complex III deficiency, nuclear type 4, 615159 for gene: UQCRQ
Publications for gene UQCRQ were changed from to 18439546
Possible mitochondrial disorder - nuclear genes v0.133 SLC25A22 Ellen McDonagh Added phenotypes Epileptic encephalopathy, early infantile, 3, 609304 for gene: SLC25A22
Publications for gene SLC25A22 were changed from to 19780765; 15592994; 24596948
Rating Changed from Green List (high evidence) to Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.133 POLRMT Ellen McDonagh gene: POLRMT was added
gene: POLRMT was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS
Mode of inheritance for gene: POLRMT was set to
Phenotypes for gene: POLRMT were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.132 APOPT1 Louise Daugherty Tag new-gene-name tag was added to gene: APOPT1.
Possible mitochondrial disorder - nuclear genes v0.132 APOPT1 Louise Daugherty commented on gene: APOPT1
Possible mitochondrial disorder - nuclear genes v0.132 YME1L1 Ellen McDonagh Classified gene: YME1L1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.132 YME1L1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.132 YME1L1 Ellen McDonagh Gene: yme1l1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.131 TXN2 Ellen McDonagh Classified gene: TXN2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.131 TXN2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.131 TXN2 Ellen McDonagh Gene: txn2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.130 TRMT10C Ellen McDonagh Classified gene: TRMT10C as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.130 TRMT10C Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.130 TRMT10C Ellen McDonagh Gene: trmt10c has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.129 TOP3A Ellen McDonagh Classified gene: TOP3A as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.129 TOP3A Ellen McDonagh Added comment: Comment on list classification: The evidence underlying this gene and mitochondrial DNA maintenance disorders was discussed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019. It was agreed that this gene should be demoted from Green to Amber on this panel due to only a single case (compound heterozygous for variants in this gene) being reported Progressive external ophthalmoplegia with mitochondrial DNA deletions.
Possible mitochondrial disorder - nuclear genes v0.129 TOP3A Ellen McDonagh Gene: top3a has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.128 TMEM65 Ellen McDonagh Classified gene: TMEM65 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.128 TMEM65 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. PMID: 28295037 reports one case and functional evidence. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.128 TMEM65 Ellen McDonagh Gene: tmem65 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.127 TIMMDC1 Ellen McDonagh Classified gene: TIMMDC1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.127 TIMMDC1 Ellen McDonagh Added comment: Comment on list classification: Single report of 3 unrelated cases with SAME INTRONIC VARIANT and expression data but no other functional work. Demoted from Green to Amber after discussion on the on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019.
Possible mitochondrial disorder - nuclear genes v0.127 TIMMDC1 Ellen McDonagh Gene: timmdc1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.126 TIMM22 Ellen McDonagh Classified gene: TIMM22 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.126 TIMM22 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. PMID: 30452684 - one case reported. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.126 TIMM22 Ellen McDonagh Gene: timm22 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.125 TFAM Ellen McDonagh Classified gene: TFAM as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.125 TFAM Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. PMID: 27448789 reports on one kindred. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.125 TFAM Ellen McDonagh Gene: tfam has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.124 TARS2 Ellen McDonagh Classified gene: TARS2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.124 TARS2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Amber on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.124 TARS2 Ellen McDonagh Gene: tars2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.123 SFXN4 Ellen McDonagh Classified gene: SFXN4 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.123 SFXN4 Ellen McDonagh Added comment: Comment on list classification: Two cases reported in PMID: 24119684. This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.123 SFXN4 Ellen McDonagh Gene: sfxn4 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.122 SDHC Ellen McDonagh Classified gene: SDHC as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.122 SDHC Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.122 SDHC Ellen McDonagh Gene: sdhc has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.121 SDHAF4 Ellen McDonagh Classified gene: SDHAF4 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.121 SDHAF4 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.121 SDHAF4 Ellen McDonagh Gene: sdhaf4 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.120 SDHAF3 Ellen McDonagh Classified gene: SDHAF3 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.120 SDHAF3 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.120 SDHAF3 Ellen McDonagh Gene: sdhaf3 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.119 SDHAF2 Ellen McDonagh Classified gene: SDHAF2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.119 SDHAF2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.119 SDHAF2 Ellen McDonagh Gene: sdhaf2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.118 PTCD3 Ellen McDonagh Classified gene: PTCD3 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.118 PTCD3 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151). PMID: 30607703 describes one case - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.118 PTCD3 Ellen McDonagh Gene: ptcd3 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.117 PMPCB Ellen McDonagh Classified gene: PMPCB as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.117 PMPCB Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.117 PMPCB Ellen McDonagh Gene: pmpcb has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.116 PET117 Ellen McDonagh Classified gene: PET117 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.116 PET117 Ellen McDonagh Added comment: Comment on list classification: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Amber on this panel due to the evidence level; only a single family has been published.
Possible mitochondrial disorder - nuclear genes v0.116 PET117 Ellen McDonagh Gene: pet117 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.115 MSTO1 Ellen McDonagh Classified gene: MSTO1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.115 MSTO1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.115 MSTO1 Ellen McDonagh Gene: msto1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.114 MRM2 Ellen McDonagh Classified gene: MRM2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.114 MRM2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151). PMID:28973171 describes one patient and functional evidence - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.114 MRM2 Ellen McDonagh Gene: mrm2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.113 LYRM4 Ellen McDonagh Classified gene: LYRM4 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.113 LYRM4 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.113 LYRM4 Ellen McDonagh Gene: lyrm4 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.112 ISCU Ellen McDonagh Tag founder-effect tag was added to gene: ISCU.
Possible mitochondrial disorder - nuclear genes v0.112 IDH3A Ellen McDonagh Classified gene: IDH3A as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.112 IDH3A Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.112 IDH3A Ellen McDonagh Gene: idh3a has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.111 FDX2 Ellen McDonagh Classified gene: FDX2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.111 FDX2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.111 FDX2 Ellen McDonagh Gene: fdx2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.110 ERAL1 Ellen McDonagh Classified gene: ERAL1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.110 ERAL1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.110 ERAL1 Ellen McDonagh Gene: eral1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.109 ECSIT Ellen McDonagh Classified gene: ECSIT as Red List (low evidence)
Possible mitochondrial disorder - nuclear genes v0.109 ECSIT Ellen McDonagh Gene: ecsit has been classified as Red List (Low Evidence).
Possible mitochondrial disorder - nuclear genes v0.108 ECSIT Ellen McDonagh Classified gene: ECSIT as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.108 ECSIT Ellen McDonagh Added comment: Comment on list classification: The evidence underlying this gene-disease was discussed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019. It was confirmed that this gene should be Red due to insufficient evidence; no cases have yet been reported in the literature and its role is not yet completely understood.
Possible mitochondrial disorder - nuclear genes v0.108 ECSIT Ellen McDonagh Gene: ecsit has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.107 DNM2 Ellen McDonagh Classified gene: DNM2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.107 DNM2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.107 DNM2 Ellen McDonagh Gene: dnm2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.106 CEP89 Ellen McDonagh Classified gene: CEP89 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.106 CEP89 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.106 CEP89 Ellen McDonagh Gene: cep89 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.105 CA5A Ellen McDonagh Classified gene: CA5A as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.105 CA5A Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.105 CA5A Ellen McDonagh Gene: ca5a has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.104 C19orf70 Ellen McDonagh Classified gene: C19orf70 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.104 C19orf70 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.104 C19orf70 Ellen McDonagh Gene: c19orf70 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.103 COX8A Ellen McDonagh Classified gene: COX8A as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.103 COX8A Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.103 COX8A Ellen McDonagh Gene: cox8a has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.102 COX7C Ellen McDonagh Classified gene: COX7C as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.102 COX7C Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.102 COX7C Ellen McDonagh Gene: cox7c has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.101 COX7A1 Ellen McDonagh Classified gene: COX7A1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.101 COX7A1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.101 COX7A1 Ellen McDonagh Gene: cox7a1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.100 COX6C Ellen McDonagh Classified gene: COX6C as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.100 COX6C Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.100 COX6C Ellen McDonagh Gene: cox6c has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.99 COX6B2 Ellen McDonagh Classified gene: COX6B2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.99 COX6B2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.99 COX6B2 Ellen McDonagh Gene: cox6b2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.98 COX6A2 Ellen McDonagh Classified gene: COX6A2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.98 COX6A2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.98 COX6A2 Ellen McDonagh Gene: cox6a2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.97 COX5B Ellen McDonagh Classified gene: COX5B as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.97 COX5B Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.97 COX5B Ellen McDonagh Gene: cox5b has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.96 COX5A Ellen McDonagh Classified gene: COX5A as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.96 COX5A Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.96 COX5A Ellen McDonagh Gene: cox5a has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.95 COX4I2 Ellen McDonagh Classified gene: COX4I2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.95 COX4I2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.95 COX4I2 Ellen McDonagh Gene: cox4i2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.94 COX4I1 Ellen McDonagh Classified gene: COX4I1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.94 COX4I1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.94 COX4I1 Ellen McDonagh Gene: cox4i1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.93 COX19 Ellen McDonagh Classified gene: COX19 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.93 COX19 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.93 COX19 Ellen McDonagh Gene: cox19 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.92 COX18 Ellen McDonagh Classified gene: COX18 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.92 COX18 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.92 COX18 Ellen McDonagh Gene: cox18 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.91 COX17 Ellen McDonagh Classified gene: COX17 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.91 COX17 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.91 COX17 Ellen McDonagh Gene: cox17 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.90 COX16 Ellen McDonagh Classified gene: COX16 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.90 COX16 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.90 COX16 Ellen McDonagh Gene: cox16 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.89 COX11 Ellen McDonagh Classified gene: COX11 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.89 COX11 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.89 COX11 Ellen McDonagh Gene: cox11 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.88 COA7 Ellen McDonagh Classified gene: COA7 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.88 COA7 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.88 COA7 Ellen McDonagh Gene: coa7 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.87 COA6 Ellen McDonagh Classified gene: COA6 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.87 COA6 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Amber on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.87 COA6 Ellen McDonagh Gene: coa6 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.86 COA5 Ellen McDonagh Classified gene: COA5 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.86 COA5 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.86 COA5 Ellen McDonagh Gene: coa5 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.85 COA4 Ellen McDonagh Classified gene: COA4 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.85 COA4 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.85 COA4 Ellen McDonagh Gene: coa4 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.84 COA3 Ellen McDonagh Classified gene: COA3 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.84 COA3 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Amber on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.84 COA3 Ellen McDonagh Gene: coa3 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.83 COA1 Ellen McDonagh Classified gene: COA1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.83 COA1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.83 COA1 Ellen McDonagh Gene: coa1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.82 UQCRH Ellen McDonagh Classified gene: UQCRH as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.82 UQCRH Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.82 UQCRH Ellen McDonagh Gene: uqcrh has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.81 UQCRFS1 Ellen McDonagh Classified gene: UQCRFS1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.81 UQCRFS1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.81 UQCRFS1 Ellen McDonagh Gene: uqcrfs1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.80 UQCC1 Ellen McDonagh Classified gene: UQCC1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.80 UQCC1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.80 UQCC1 Ellen McDonagh Gene: uqcc1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.79 UQCRC2 Ellen McDonagh Classified gene: UQCRC2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.79 UQCRC2 Ellen McDonagh Added comment: Comment on list classification: Two unrelated cases/families have been reported, though for the same missense variant.
Possible mitochondrial disorder - nuclear genes v0.79 UQCRC2 Ellen McDonagh Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.78 UQCRC2 Ellen McDonagh Publications for gene: UQCRC2 were set to
Possible mitochondrial disorder - nuclear genes v0.77 UQCRC2 Ellen McDonagh Classified gene: UQCRC2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.77 UQCRC2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Amber on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.77 UQCRC2 Ellen McDonagh Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.76 UQCRC1 Ellen McDonagh Classified gene: UQCRC1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.76 UQCRC1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.76 UQCRC1 Ellen McDonagh Gene: uqcrc1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.75 UQCRB Ellen McDonagh Classified gene: UQCRB as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.75 UQCRB Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.75 UQCRB Ellen McDonagh Gene: uqcrb has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.74 UQCC3 Ellen McDonagh Classified gene: UQCC3 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.74 UQCC3 Ellen McDonagh Gene: uqcc3 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.73 UQCR11 Ellen McDonagh Classified gene: UQCR11 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.73 UQCR11 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.73 UQCR11 Ellen McDonagh Gene: uqcr11 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.72 UQCR10 Ellen McDonagh Classified gene: UQCR10 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.72 UQCR10 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.72 UQCR10 Ellen McDonagh Gene: uqcr10 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.71 UQCC3 Ellen McDonagh Classified gene: UQCC3 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.71 UQCC3 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.147) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.71 UQCC3 Ellen McDonagh Gene: uqcc3 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.70 UQCC2 Ellen McDonagh Classified gene: UQCC2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.70 UQCC2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.143) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.70 UQCC2 Ellen McDonagh Gene: uqcc2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.69 PARS2 Ellen McDonagh Classified gene: PARS2 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.69 PARS2 Ellen McDonagh Added comment: Comment on list classification: More than 3 unrelated families reported.
Possible mitochondrial disorder - nuclear genes v0.69 PARS2 Ellen McDonagh Gene: pars2 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.68 NSUN3 Ellen McDonagh Classified gene: NSUN3 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.68 NSUN3 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.68 NSUN3 Ellen McDonagh Gene: nsun3 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.67 NFS1 Ellen McDonagh Classified gene: NFS1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.67 NFS1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.67 NFS1 Ellen McDonagh Gene: nfs1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.66 NDUFV3 Ellen McDonagh Classified gene: NDUFV3 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.66 NDUFV3 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.66 NDUFV3 Ellen McDonagh Gene: ndufv3 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.65 NDUFS5 Ellen McDonagh Classified gene: NDUFS5 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.65 NDUFS5 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.65 NDUFS5 Ellen McDonagh Gene: ndufs5 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.64 NDUFC2 Ellen McDonagh Classified gene: NDUFC2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.64 NDUFC2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.64 NDUFC2 Ellen McDonagh Gene: ndufc2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.63 NDUFC1 Ellen McDonagh Classified gene: NDUFC1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.63 NDUFC1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.63 NDUFC1 Ellen McDonagh Gene: ndufc1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.62 NDUFB9 Ellen McDonagh Classified gene: NDUFB9 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.62 NDUFB9 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently RAmber on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.62 NDUFB9 Ellen McDonagh Gene: ndufb9 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.61 NDUFB8 Ellen McDonagh Classified gene: NDUFB8 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.61 NDUFB8 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.61 NDUFB8 Ellen McDonagh Gene: ndufb8 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.61 NDUFB8 Ellen McDonagh Classified gene: NDUFB8 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.61 NDUFB8 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.61 NDUFB8 Ellen McDonagh Gene: ndufb8 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.60 NDUFB7 Ellen McDonagh Classified gene: NDUFB7 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.60 NDUFB7 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.60 NDUFB7 Ellen McDonagh Gene: ndufb7 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.59 NDUFB6 Ellen McDonagh Classified gene: NDUFB6 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.59 NDUFB6 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.59 NDUFB6 Ellen McDonagh Gene: ndufb6 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.58 NDUFB5 Ellen McDonagh Classified gene: NDUFB5 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.58 NDUFB5 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.58 NDUFB5 Ellen McDonagh Gene: ndufb5 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.57 NDUFB4 Ellen McDonagh Classified gene: NDUFB4 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.57 NDUFB4 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.57 NDUFB4 Ellen McDonagh Gene: ndufb4 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.56 NDUFB2 Ellen McDonagh Classified gene: NDUFB2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.56 NDUFB2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.56 NDUFB2 Ellen McDonagh Gene: ndufb2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.55 NDUFB10 Ellen McDonagh Classified gene: NDUFB10 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.55 NDUFB10 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.55 NDUFB10 Ellen McDonagh Gene: ndufb10 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.54 NDUFB1 Ellen McDonagh Classified gene: NDUFB1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.54 NDUFB1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.54 NDUFB1 Ellen McDonagh Gene: ndufb1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.53 NDUFAF8 Ellen McDonagh Classified gene: NDUFAF8 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.53 NDUFAF8 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.53 NDUFAF8 Ellen McDonagh Gene: ndufaf8 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.52 NDUFAF7 Ellen McDonagh Classified gene: NDUFAF7 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.52 NDUFAF7 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.52 NDUFAF7 Ellen McDonagh Gene: ndufaf7 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.51 NDUFAB1 Ellen McDonagh Classified gene: NDUFAB1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.51 NDUFAB1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.51 NDUFAB1 Ellen McDonagh Gene: ndufab1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.50 NDUFA9 Ellen McDonagh Classified gene: NDUFA9 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.50 NDUFA9 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Amber on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.50 NDUFA9 Ellen McDonagh Gene: ndufa9 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.49 NDUFA8 Ellen McDonagh Classified gene: NDUFA8 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.49 NDUFA8 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.49 NDUFA8 Ellen McDonagh Gene: ndufa8 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.48 NDUFA7 Ellen McDonagh Classified gene: NDUFA7 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.48 NDUFA7 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.48 NDUFA7 Ellen McDonagh Gene: ndufa7 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.47 NDUFA6 Ellen McDonagh Classified gene: NDUFA6 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.47 NDUFA6 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.47 NDUFA6 Ellen McDonagh Gene: ndufa6 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.46 NDUFA5 Ellen McDonagh Classified gene: NDUFA5 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.46 NDUFA5 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.46 NDUFA5 Ellen McDonagh Gene: ndufa5 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.45 NDUFA4 Ellen McDonagh Classified gene: NDUFA4 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.45 NDUFA4 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.45 NDUFA4 Ellen McDonagh Gene: ndufa4 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.44 NDUFA3 Ellen McDonagh Classified gene: NDUFA3 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.44 NDUFA3 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.44 NDUFA3 Ellen McDonagh Gene: ndufa3 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.43 NDUFA13 Ellen McDonagh Classified gene: NDUFA13 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.43 NDUFA13 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.43 NDUFA13 Ellen McDonagh Gene: ndufa13 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.42 NDUFA12 Ellen McDonagh Classified gene: NDUFA12 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.42 NDUFA12 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.42 NDUFA12 Ellen McDonagh Gene: ndufa12 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.41 MRPS7 Ellen McDonagh Classified gene: MRPS7 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.41 MRPS7 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.41 MRPS7 Ellen McDonagh Gene: mrps7 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.40 MRPS23 Ellen McDonagh Classified gene: MRPS23 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.40 MRPS23 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.40 MRPS23 Ellen McDonagh Gene: mrps23 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.39 MRPS2 Ellen McDonagh Classified gene: MRPS2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.39 MRPS2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.39 MRPS2 Ellen McDonagh Gene: mrps2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.38 MRPS16 Ellen McDonagh Classified gene: MRPS16 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.38 MRPS16 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.38 MRPS16 Ellen McDonagh Gene: mrps16 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.37 MRPS14 Ellen McDonagh Classified gene: MRPS14 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.37 MRPS14 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.37 MRPS14 Ellen McDonagh Gene: mrps14 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.36 MRPL3 Ellen McDonagh Classified gene: MRPL3 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.36 MRPL3 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Amber on the Mitochondrial disorders panel (code 112, Version 1.135) due to two family reports - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.36 MRPL3 Ellen McDonagh Gene: mrpl3 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.35 MRPL12 Ellen McDonagh Classified gene: MRPL12 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.35 MRPL12 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.35 MRPL12 Ellen McDonagh Gene: mrpl12 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.34 ATPAF1 Ellen McDonagh Classified gene: ATPAF1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.34 ATPAF1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.34 ATPAF1 Ellen McDonagh Gene: atpaf1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.33 ATP5L2 Ellen McDonagh Classified gene: ATP5L2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.33 ATP5L2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.33 ATP5L2 Ellen McDonagh Gene: atp5l2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.32 ATP5L Ellen McDonagh Classified gene: ATP5L as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.32 ATP5L Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.32 ATP5L Ellen McDonagh Gene: atp5l has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.31 ATP5J2 Ellen McDonagh Classified gene: ATP5J2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.31 ATP5J2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.31 ATP5J2 Ellen McDonagh Gene: atp5j2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.30 ATP5J Ellen McDonagh Classified gene: ATP5J as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.30 ATP5J Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.30 ATP5J Ellen McDonagh Gene: atp5j has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.29 ATP5I Ellen McDonagh Classified gene: ATP5I as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.29 ATP5I Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.29 ATP5I Ellen McDonagh Gene: atp5i has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.28 ATP5O Ellen McDonagh Classified gene: ATP5O as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.28 ATP5O Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.28 ATP5O Ellen McDonagh Gene: atp5o has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.27 ATP5G3 Ellen McDonagh Classified gene: ATP5G3 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.27 ATP5G3 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.27 ATP5G3 Ellen McDonagh Gene: atp5g3 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.26 ATP5G2 Ellen McDonagh Classified gene: ATP5G2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.26 ATP5G2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.26 ATP5G2 Ellen McDonagh Gene: atp5g2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.25 ATP5G1 Ellen McDonagh Classified gene: ATP5G1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.25 ATP5G1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.25 ATP5G1 Ellen McDonagh Gene: atp5g1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.24 ATP5E Ellen McDonagh Classified gene: ATP5E as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.24 ATP5E Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.24 ATP5E Ellen McDonagh Gene: atp5e has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.23 ATP5H Ellen McDonagh Classified gene: ATP5H as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.23 ATP5H Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.23 ATP5H Ellen McDonagh Gene: atp5h has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.22 ATP5F1 Ellen McDonagh Classified gene: ATP5F1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.22 ATP5F1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.22 ATP5F1 Ellen McDonagh Gene: atp5f1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.21 ATP5D Ellen McDonagh Classified gene: ATP5D as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.21 ATP5D Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.21 ATP5D Ellen McDonagh Gene: atp5d has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.20 ATP5C1 Ellen McDonagh Classified gene: ATP5C1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.20 ATP5C1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.20 ATP5C1 Ellen McDonagh Gene: atp5c1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.19 ATP5B Ellen McDonagh Classified gene: ATP5B as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.19 ATP5B Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.19 ATP5B Ellen McDonagh Gene: atp5b has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.18 ATP5A1 Ellen McDonagh Classified gene: ATP5A1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.18 ATP5A1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.18 ATP5A1 Ellen McDonagh Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.17 SLC25A22 Ellen McDonagh Classified gene: SLC25A22 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.17 SLC25A22 Ellen McDonagh Added comment: Comment on list classification: This gene-disease was discussed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019, and it was decided to promote this gene from Amber to Green.
Possible mitochondrial disorder - nuclear genes v0.17 SLC25A22 Ellen McDonagh Gene: slc25a22 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.16 WARS2 Ellen McDonagh Marked gene: WARS2 as ready
Possible mitochondrial disorder - nuclear genes v0.16 WARS2 Ellen McDonagh Gene: wars2 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.16 WARS2 Ellen McDonagh Publications for gene: WARS2 were set to
Possible mitochondrial disorder - nuclear genes v0.15 WARS2 Ellen McDonagh Classified gene: WARS2 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.15 WARS2 Ellen McDonagh Added comment: Comment on list classification: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Green.
Possible mitochondrial disorder - nuclear genes v0.15 WARS2 Ellen McDonagh Gene: wars2 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.14 OXA1L Ellen McDonagh Classified gene: OXA1L as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.14 OXA1L Ellen McDonagh Added comment: Comment on list classification: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Amber on this panel due to the evidence level; only a single report has been published.
Possible mitochondrial disorder - nuclear genes v0.14 OXA1L Ellen McDonagh Gene: oxa1l has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.13 GATB Ellen McDonagh Classified gene: GATB as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.13 GATB Ellen McDonagh Added comment: Comment on list classification: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Amber.
Possible mitochondrial disorder - nuclear genes v0.13 GATB Ellen McDonagh Gene: gatb has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.12 GATC Ellen McDonagh Classified gene: GATC as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.12 GATC Ellen McDonagh Added comment: Comment on list classification: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Amber.
Possible mitochondrial disorder - nuclear genes v0.12 GATC Ellen McDonagh Gene: gatc has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.11 IDH3B Ellen McDonagh Marked gene: IDH3B as ready
Possible mitochondrial disorder - nuclear genes v0.11 IDH3B Ellen McDonagh Gene: idh3b has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.11 IDH3B Ellen McDonagh Publications for gene: IDH3B were set to
Possible mitochondrial disorder - nuclear genes v0.10 IDH3B Ellen McDonagh Classified gene: IDH3B as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.10 IDH3B Ellen McDonagh Added comment: Comment on list classification: This gene-disease was discussed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019, and the decision was made to make this gene Amber.
Possible mitochondrial disorder - nuclear genes v0.10 IDH3B Ellen McDonagh Gene: idh3b has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.9 HARS2 Ellen McDonagh Classified gene: HARS2 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.9 HARS2 Ellen McDonagh Added comment: Comment on list classification: This gene was discussed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019. It was confirmed that Perrault syndrome was relevant for this panel, and that there was enough evidence for the gene to be Green.
Possible mitochondrial disorder - nuclear genes v0.9 HARS2 Ellen McDonagh Gene: hars2 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.8 PDPR Ellen McDonagh commented on gene: PDPR: Confirmed in the NHSE GMS Mitochondrial Specialist Group Meeting on 25th February 2019 that this should be Red, as no further published evidence has come out.
Possible mitochondrial disorder - nuclear genes v0.8 HARS2 Ellen McDonagh Added comment: Comment on publications: PMID: 21464306: one family reported, compound het. Five affected siblings. Variants L200V and V368L. Functional evidence in c.elegans. PMID: 27650058 homozygous c.1010A>G (p.Tyr337Cys) patinets IV-1 and VI-I, not related but originated from the same region in Morocco and mutation characterised by the same haplotype, suggesting a founder effect. Sporadic. 1/121332 in Exac.
Possible mitochondrial disorder - nuclear genes v0.8 HARS2 Ellen McDonagh Publications for gene: HARS2 were set to 21464306; 27650058
Possible mitochondrial disorder - nuclear genes v0.7 HARS2 Ellen McDonagh Publications for gene: HARS2 were set to
Possible mitochondrial disorder - nuclear genes v0.5 XPNPEP3 Ivone Leong reviewed gene: XPNPEP3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephronophthisis-like nephropathy 1, 613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 WFS1 Ivone Leong reviewed gene: WFS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Wolfram syndrome 1, 222300, Wolfram-like syndrome, autosomal dominant, 614296, Deafness, autosomal dominant 6/14/38, 600965; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 VPS13C Ivone Leong reviewed gene: VPS13C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 23, autosomal recessive, early onset, 616840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TRAP1 Ivone Leong reviewed gene: TRAP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 TMEM126A Ivone Leong reviewed gene: TMEM126A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Optic atrophy 7, 612989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TANGO2 Ivone Leong reviewed gene: TANGO2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SUCLG2 Ivone Leong reviewed gene: SUCLG2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: None; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 STAT2 Ivone Leong reviewed gene: STAT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Immunodeficiency 44, 616636; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SSBP1 Ivone Leong reviewed gene: SSBP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 SRRT Ivone Leong reviewed gene: SRRT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 SLC52A3 Ivone Leong reviewed gene: SLC52A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Brown-Vialetto-Van Laere syndrome 1, 211530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SLC52A2 Ivone Leong reviewed gene: SLC52A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Brown-Vialetto-Van Laere syndrome 2, 614707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SLC25A40 Ivone Leong reviewed gene: SLC25A40: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 SLC25A20 Ivone Leong reviewed gene: SLC25A20: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Carnitine-acylcarnitine translocase deficiency, 212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SLC25A13 Ivone Leong reviewed gene: SLC25A13: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Citrullinemia, adult-onset type II, 603471, Citrullinemia, type II, neonatal-onset 605814; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SLC22A5 Ivone Leong reviewed gene: SLC22A5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Carnitine deficiency, systemic primary, 212140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SAMHD1 Ivone Leong reviewed gene: SAMHD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 5, 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ROBO3 Ivone Leong reviewed gene: ROBO3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 QARS Ivone Leong reviewed gene: QARS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PYCR1 Ivone Leong reviewed gene: PYCR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IIB, 612940, Cutis laxa, autosomal recessive, type IIIB, 614438; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PPOX Ivone Leong reviewed gene: PPOX: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Porphyria variegata, 176200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Possible mitochondrial disorder - nuclear genes v0.5 PNPLA4 Ivone Leong reviewed gene: PNPLA4: Rating: RED; Mode of pathogenicity: ; Publications: 26741492; Phenotypes: No OMIM phenotype; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Possible mitochondrial disorder - nuclear genes v0.5 PITRM1 Ivone Leong reviewed gene: PITRM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 PDPR Ivone Leong reviewed gene: PDPR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: None; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 PDP2 Ivone Leong reviewed gene: PDP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: None; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 PDK3 Ivone Leong reviewed gene: PDK3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Charcot-Marie-Tooth disease, X-linked dominant, 6, 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)
Possible mitochondrial disorder - nuclear genes v0.5 PANK2 Ivone Leong reviewed gene: PANK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 1, 234200, HARP syndrome, 607236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 OXCT1 Ivone Leong reviewed gene: OXCT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 L2HGDH Ivone Leong reviewed gene: L2HGDH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: L-2-hydroxyglutaric aciduria, 236792; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 IER3IP1 Ivone Leong reviewed gene: IER3IP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Microcephaly, epilepsy, and diabetes syndrome, 614231; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 HTT Ivone Leong reviewed gene: HTT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Huntington disease, 143100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Possible mitochondrial disorder - nuclear genes v0.5 HSPA9 Ivone Leong reviewed gene: HSPA9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Anemia, sideroblastic, 4, 182170, Even-plus syndrome, 616854, Also Parkinson disease association?; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 HMGCS2 Ivone Leong reviewed gene: HMGCS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: HMG-CoA synthase-2 deficiency, 605911; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 HMGCL Ivone Leong reviewed gene: HMGCL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: HMG-CoA lyase deficiency, 246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 HADHB Ivone Leong reviewed gene: HADHB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Trifunctional protein deficiency, 609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 HADHA Ivone Leong reviewed gene: HADHA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: LCHAD deficiency, 609016, Trifunctional protein deficiency, 609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 HADH Ivone Leong reviewed gene: HADH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530, Hyperinsulinemic hypoglycemia, familial, 4, 609975; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 GLUD1 Ivone Leong reviewed gene: GLUD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperinsulinism-hyperammonemia syndrome, 606762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Possible mitochondrial disorder - nuclear genes v0.5 GATM Ivone Leong reviewed gene: GATM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebral creatine deficiency syndrome 3, 612718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 G6PC Ivone Leong reviewed gene: G6PC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycogen storage disease Ia, 232200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 FXN Ivone Leong reviewed gene: FXN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Friedreich ataxia, 229300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ETFB Ivone Leong reviewed gene: ETFB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Glutaric acidemia IIB ,231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ETFA Ivone Leong reviewed gene: ETFA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Glutaric acidemia IIA ,231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 DHTKD1 Ivone Leong reviewed gene: DHTKD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: 2-aminoadipic 2-oxoadipic aciduria, 204750, ?Charcot-Marie-Tooth disease, axonal, type 2Q 615025; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 DCC Ivone Leong reviewed gene: DCC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542, Mirror movements 1 and/or agenesis of the corpus callosum, 157600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 DARS Ivone Leong reviewed gene: DARS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 D2HGDH Ivone Leong reviewed gene: D2HGDH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: D-2-hydroxyglutaric aciduria, 600721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 CYCS Ivone Leong reviewed gene: CYCS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Thrombocytopenia 4, 612004; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Possible mitochondrial disorder - nuclear genes v0.5 CPT2 Ivone Leong reviewed gene: CPT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CPT II deficiency, myopathic, stress-induced, 255110; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 CPT1A Ivone Leong reviewed gene: CPT1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CPT deficiency, hepatic, type IA, 255120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COASY Ivone Leong reviewed gene: COASY: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 6, 615643, Pontocerebellar hypoplasia, type 12, 618266; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 CISD2 Ivone Leong reviewed gene: CISD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Wolfram syndrome 2, 604928; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 CHKB Ivone Leong reviewed gene: CHKB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular dystrophy, congenital, megaconial type, 602541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 C19orf12 Ivone Leong reviewed gene: C19orf12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 4, 614298, ?Spastic paraplegia 43, autosomal recessive, 615043; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ACAT1 Ivone Leong reviewed gene: ACAT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Alpha-methylacetoacetic aciduria, 203750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ACADVL Ivone Leong reviewed gene: ACADVL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: VLCAD deficiency, 201475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ACADSB Ivone Leong reviewed gene: ACADSB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: 2-methylbutyrylglycinuria, 610006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ACADS Ivone Leong reviewed gene: ACADS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ACADM Ivone Leong reviewed gene: ACADM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TIMM44 Ivone Leong reviewed gene: TIMM44: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 SLC25A32 Ivone Leong reviewed gene: SLC25A32: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Exercise intolerance, riboflavin-responsive, 616839; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SLC25A22 Ivone Leong reviewed gene: SLC25A22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 3, 609304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SLC25A21 Ivone Leong reviewed gene: SLC25A21: Rating: AMBER; Mode of pathogenicity: ; Publications: 29517768; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PNPLA8 Ivone Leong reviewed gene: PNPLA8: Rating: AMBER; Mode of pathogenicity: ; Publications: 29681094, 25473036, 25512002; Phenotypes: ?Mitochondrial myopathy with lactic acidosis, 251950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NNT Ivone Leong reviewed gene: NNT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COQ7 Ivone Leong reviewed gene: COQ7: Rating: AMBER; Mode of pathogenicity: ; Publications: 28409910; Phenotypes: ?Coenzyme Q10 deficiency, primary, 8 616733; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COQ5 Ivone Leong reviewed gene: COQ5: Rating: AMBER; Mode of pathogenicity: ; Publications: 29044765; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 YME1L1 Ivone Leong reviewed gene: YME1L1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Optic atrophy 11, 617302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 YARS2 Ivone Leong reviewed gene: YARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 WARS2 Ivone Leong reviewed gene: WARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 VARS2 Ivone Leong reviewed gene: VARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 20, 615917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 UQCRQ Ivone Leong reviewed gene: UQCRQ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4, 615159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 UQCRH Ivone Leong reviewed gene: UQCRH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 UQCRFS1 Ivone Leong reviewed gene: UQCRFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 UQCRC2 Ivone Leong reviewed gene: UQCRC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 5, 615160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 UQCRC1 Ivone Leong reviewed gene: UQCRC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 UQCRB Ivone Leong reviewed gene: UQCRB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 3, 615158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 UQCR11 Ivone Leong reviewed gene: UQCR11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 UQCR10 Ivone Leong reviewed gene: UQCR10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 UQCC3 Ivone Leong reviewed gene: UQCC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex III deficiency, nuclear type 9, 616111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 UQCC2 Ivone Leong reviewed gene: UQCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 7, 615824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 UQCC1 Ivone Leong reviewed gene: UQCC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 TYMP Ivone Leong reviewed gene: TYMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TXN2 Ivone Leong reviewed gene: TXN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Combined oxidative phosphorylation deficiency 29, 616811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TWNK Ivone Leong reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TUFM Ivone Leong reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 4, 610678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TTC19 Ivone Leong reviewed gene: TTC19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 2, 615157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TSFM Ivone Leong reviewed gene: TSFM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 3, 610505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TRNT1 Ivone Leong reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa and erythrocytic microcytosis, 616959, Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TRMU Ivone Leong reviewed gene: TRMU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LIVER FAILURE, INFANTILE, TRANSIENT, 613070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TRMT5 Ivone Leong reviewed gene: TRMT5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 26, 616539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TRMT10C Ivone Leong reviewed gene: TRMT10C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 30, 616974; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TRIT1 Ivone Leong reviewed gene: TRIT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 35, 617873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TPK1 Ivone Leong reviewed gene: TPK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), 614458; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TOP3A Ivone Leong reviewed gene: TOP3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 29290614; Phenotypes: ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TMEM70 Ivone Leong reviewed gene: TMEM70: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TMEM65 Ivone Leong reviewed gene: TMEM65: Rating: GREEN; Mode of pathogenicity: ; Publications: 28295037; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TMEM126B Ivone Leong reviewed gene: TMEM126B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 29, 618250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TK2 Ivone Leong reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937588; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TIMMDC1 Ivone Leong reviewed gene: TIMMDC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 31, 618251; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TIMM8A Ivone Leong reviewed gene: TIMM8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mohr-Tranebjaerg syndrome, 304700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Possible mitochondrial disorder - nuclear genes v0.5 TIMM50 Ivone Leong reviewed gene: TIMM50: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type IX, 617698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TIMM22 Ivone Leong reviewed gene: TIMM22: Rating: GREEN; Mode of pathogenicity: ; Publications: 30452684; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TFAM Ivone Leong reviewed gene: TFAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 27448789; Phenotypes: ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TAZ Ivone Leong reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Barth syndrome, 302060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Possible mitochondrial disorder - nuclear genes v0.5 TARS2 Ivone Leong reviewed gene: TARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Combined oxidative phosphorylation deficiency 21, 615918; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 TACO1 Ivone Leong reviewed gene: TACO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SURF1 Ivone Leong reviewed gene: SURF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leigh syndrome, due to COX IV deficiency, 256000, Charcot-Marie-Tooth disease, type 4K, 616684; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SUCLG1 Ivone Leong reviewed gene: SUCLG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SUCLA2 Ivone Leong reviewed gene: SUCLA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SPG7 Ivone Leong reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: ; Publications: 24727571; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SLC25A46 Ivone Leong reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB, 616505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SLC25A42 Ivone Leong reviewed gene: SLC25A42: Rating: GREEN; Mode of pathogenicity: ; Publications: 26541337, 29327420, 29923093; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SLC25A4 Ivone Leong reviewed gene: SLC25A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 27693233; Phenotypes: Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283, Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SLC25A38 Ivone Leong reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Anemia, sideroblastic, 2, pyridoxine-refractory, 205950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SLC25A3 Ivone Leong reviewed gene: SLC25A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial phosphate carrier deficiency, 610773; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SLC25A26 Ivone Leong reviewed gene: SLC25A26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, 616794; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SLC25A19 Ivone Leong reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE), 613710, MICROCEPHALY, AMISH TYPE, 607196; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SLC25A12 Ivone Leong reviewed gene: SLC25A12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 39, 612949; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SLC25A1 Ivone Leong reviewed gene: SLC25A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined D-2- and L-2-hydroxyglutaric aciduria, 615182, ?Myasthenic syndrome, congenital, 23, presynaptic, 618197; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SLC19A3 Ivone Leong reviewed gene: SLC19A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE), 607483; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SLC19A2 Ivone Leong reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, 249270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SFXN4 Ivone Leong reviewed gene: SFXN4: Rating: GREEN; Mode of pathogenicity: ; Publications: 24119684; Phenotypes: Combined oxidative phosphorylation deficiency 18, 615578; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SERAC1 Ivone Leong reviewed gene: SERAC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SDHD Ivone Leong reviewed gene: SDHD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial respiratory chain complex II deficiency, 252011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SDHC Ivone Leong reviewed gene: SDHC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 SDHB Ivone Leong reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: 22972948; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SDHAF4 Ivone Leong reviewed gene: SDHAF4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 SDHAF3 Ivone Leong reviewed gene: SDHAF3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 SDHAF2 Ivone Leong reviewed gene: SDHAF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 SDHAF1 Ivone Leong reviewed gene: SDHAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial respiratory chain complex II deficiency, 252011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SDHA Ivone Leong reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial respiratory chain complex II deficiency, 252011, Leigh syndrome, 256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SCO2 Ivone Leong reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SCO1 Ivone Leong reviewed gene: SCO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SARS2 Ivone Leong reviewed gene: SARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 SACS Ivone Leong reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type, 270550; Mode of inheritance: BiALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 RTN4IP1 Ivone Leong reviewed gene: RTN4IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 RRM2B Ivone Leong reviewed gene: RRM2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075, Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 RNASEH1 Ivone Leong reviewed gene: RNASEH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 RMND1 Ivone Leong reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 11, 614922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 RARS2 Ivone Leong reviewed gene: RARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 6, 611523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 QRSL1 Ivone Leong reviewed gene: QRSL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26741492, 30283131; Phenotypes: Mitochondrial cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PUS1 Ivone Leong reviewed gene: PUS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PTCD3 Ivone Leong reviewed gene: PTCD3: Rating: GREEN; Mode of pathogenicity: ; Publications: 30607703; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PPA2 Ivone Leong reviewed gene: PPA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27523597; Phenotypes: Sudden cardiac failure, infantile, 617222, ?Sudden cardiac failure, alcohol-induced, 617223; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 POLG2 Ivone Leong reviewed gene: POLG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30157269; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131, Mitochondrial DNA depletion syndrome, NA; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 POLG Ivone Leong reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700, Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662, Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459, Progressive external ophthalmoplegia, autosomal dominant 1, 157640, Progressive external ophthalmoplegia, autosomal recessive 1, 258450; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PNPT1 Ivone Leong reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 13, 614932, Deafness, autosomal recessive 70, 614934; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PMPCB Ivone Leong reviewed gene: PMPCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6, 617954; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PMPCA Ivone Leong reviewed gene: PMPCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, 213200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PET117 Ivone Leong reviewed gene: PET117: Rating: GREEN; Mode of pathogenicity: ; Publications: 28386624; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PET100 Ivone Leong reviewed gene: PET100: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PDSS2 Ivone Leong reviewed gene: PDSS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 3, 614652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PDSS1 Ivone Leong reviewed gene: PDSS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22494076; Phenotypes: Coenzyme Q10 deficiency, primary, 2, 614651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PDP1 Ivone Leong reviewed gene: PDP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, 608782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PDHX Ivone Leong reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY, 245349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PDHB Ivone Leong reviewed gene: PDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: 15138885, 18164639, 19924563; Phenotypes: PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY, 614111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PDHA1 Ivone Leong reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, 312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Possible mitochondrial disorder - nuclear genes v0.5 PC Ivone Leong reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pyruvate carboxylase deficiency, 266150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 PARS2 Ivone Leong reviewed gene: PARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27290639, 28077841, 29915213, 25629079; Phenotypes: Infantile-onset neurodegenerative disorder, Infantile-onset encephalopathy, Alpers syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 OXA1L Ivone Leong reviewed gene: OXA1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 30201738; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 OPA3 Ivone Leong reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type III, 258501, Optic atrophy 3 with cataract, 165300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 OPA1 Ivone Leong reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Optic atrophy 1, 165500, Optic atrophy plus syndrome, 125250 ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NUBPL Ivone Leong reviewed gene: NUBPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 21, 618242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NSUN3 Ivone Leong reviewed gene: NSUN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27356879; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NFU1 Ivone Leong reviewed gene: NFU1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, 605711; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NFS1 Ivone Leong reviewed gene: NFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24498631; Phenotypes: Infantile mitochondrial complex II/III deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFV3 Ivone Leong reviewed gene: NDUFV3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 NDUFV2 Ivone Leong reviewed gene: NDUFV2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7, 618229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFV1 Ivone Leong reviewed gene: NDUFV1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 4, 618225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFS8 Ivone Leong reviewed gene: NDUFS8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 2, 618222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFS7 Ivone Leong reviewed gene: NDUFS7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3, 618224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFS6 Ivone Leong reviewed gene: NDUFS6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 9, 618232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFS5 Ivone Leong reviewed gene: NDUFS5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 NDUFS4 Ivone Leong reviewed gene: NDUFS4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 1, 252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFS3 Ivone Leong reviewed gene: NDUFS3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 8, 618230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFS2 Ivone Leong reviewed gene: NDUFS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 6, 618228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFS1 Ivone Leong reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5, 618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFC2 Ivone Leong reviewed gene: NDUFC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 NDUFC1 Ivone Leong reviewed gene: NDUFC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 NDUFB9 Ivone Leong reviewed gene: NDUFB9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 24, 618245; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFB8 Ivone Leong reviewed gene: NDUFB8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 32, 618252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFB7 Ivone Leong reviewed gene: NDUFB7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 NDUFB6 Ivone Leong reviewed gene: NDUFB6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 NDUFB5 Ivone Leong reviewed gene: NDUFB5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 NDUFB4 Ivone Leong reviewed gene: NDUFB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 NDUFB3 Ivone Leong reviewed gene: NDUFB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 25, 618246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFB2 Ivone Leong reviewed gene: NDUFB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 NDUFB11 Ivone Leong reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 30, 301021, Linear skin defects with multiple congenital anomalies 3, 300952; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Possible mitochondrial disorder - nuclear genes v0.5 NDUFB10 Ivone Leong reviewed gene: NDUFB10: Rating: GREEN; Mode of pathogenicity: ; Publications: 28040730; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFB1 Ivone Leong reviewed gene: NDUFB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 NDUFAF8 Ivone Leong reviewed gene: NDUFAF8: Rating: GREEN; Mode of pathogenicity: ; Publications: 27499296; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFAF7 Ivone Leong reviewed gene: NDUFAF7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 NDUFAF6 Ivone Leong reviewed gene: NDUFAF6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 17, 612392; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFAF5 Ivone Leong reviewed gene: NDUFAF5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 16, 616238; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFAF4 Ivone Leong reviewed gene: NDUFAF4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 15, 618237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFAF3 Ivone Leong reviewed gene: NDUFAF3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 18, 618240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFAF2 Ivone Leong reviewed gene: NDUFAF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 10, 618233; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFAF1 Ivone Leong reviewed gene: NDUFAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 11, 618234; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFAB1 Ivone Leong reviewed gene: NDUFAB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 NDUFA9 Ivone Leong reviewed gene: NDUFA9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 26, 618247; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFA8 Ivone Leong reviewed gene: NDUFA8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 NDUFA7 Ivone Leong reviewed gene: NDUFA7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 NDUFA6 Ivone Leong reviewed gene: NDUFA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 33, 618253; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFA5 Ivone Leong reviewed gene: NDUFA5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 NDUFA4 Ivone Leong reviewed gene: NDUFA4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23746447, 29636225; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFA3 Ivone Leong reviewed gene: NDUFA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 NDUFA2 Ivone Leong reviewed gene: NDUFA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 13, 618235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFA13 Ivone Leong reviewed gene: NDUFA13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 28, 618249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFA12 Ivone Leong reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 23, 618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFA11 Ivone Leong reviewed gene: NDUFA11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 14, 618236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFA10 Ivone Leong reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 22, 618243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NDUFA1 Ivone Leong reviewed gene: NDUFA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 12, 301020; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Possible mitochondrial disorder - nuclear genes v0.5 NAXE Ivone Leong reviewed gene: NAXE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NARS2 Ivone Leong reviewed gene: NARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 24, 616239; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 NADK2 Ivone Leong reviewed gene: NADK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29388319; Phenotypes: ?2,4-dienoyl-CoA reductase deficiency, 616034; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MTPAP Ivone Leong reviewed gene: MTPAP: Rating: GREEN; Mode of pathogenicity: ; Publications: 27391121, 27959697; Phenotypes: ?Spastic ataxia 4, autosomal recessive, 613672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MTO1 Ivone Leong reviewed gene: MTO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 10, 614702; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MTFMT Ivone Leong reviewed gene: MTFMT: Rating: GREEN; Mode of pathogenicity: ; Publications: 22499348; Phenotypes: Combined oxidative phosphorylation deficiency 15, 614947, Mitochondrial complex I deficiency, nuclear type 27, 618248; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MSTO1 Ivone Leong reviewed gene: MSTO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myopathy, mitochondrial, and ataxia, 617675; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MRPS7 Ivone Leong reviewed gene: MRPS7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Combined oxidative phosphorylation deficiency 34, 617872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MRPS34 Ivone Leong reviewed gene: MRPS34: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 32, 617664; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MRPS23 Ivone Leong reviewed gene: MRPS23: Rating: GREEN; Mode of pathogenicity: ; Publications: 26741492; Phenotypes: Hepatic disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MRPS22 Ivone Leong reviewed gene: MRPS22: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 5, 611719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MRPS2 Ivone Leong reviewed gene: MRPS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29576219; Phenotypes: Combined oxidative phosphorylation deficiency 36, 617950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MRPS16 Ivone Leong reviewed gene: MRPS16: Rating: GREEN; Mode of pathogenicity: ; Publications: 28749478, 15505824 ; Phenotypes: Combined oxidative phosphorylation deficiency 2, 610498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MRPS14 Ivone Leong reviewed gene: MRPS14: Rating: GREEN; Mode of pathogenicity: ; Publications: 30358850; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MRPL44 Ivone Leong reviewed gene: MRPL44: Rating: GREEN; Mode of pathogenicity: ; Publications: 25797485, 23315540; Phenotypes: ?Combined oxidative phosphorylation deficiency 16, 615395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MRPL3 Ivone Leong reviewed gene: MRPL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27815843, 21786366 ; Phenotypes: Combined oxidative phosphorylation deficiency 9, 614582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MRPL12 Ivone Leong reviewed gene: MRPL12: Rating: GREEN; Mode of pathogenicity: ; Publications: 23603806; Phenotypes: Growth retardation and neurological deterioration; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MRM2 Ivone Leong reviewed gene: MRM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28973171; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MPV17 Ivone Leong reviewed gene: MPV17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MPC1 Ivone Leong reviewed gene: MPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22628558; Phenotypes: Lactic acidosis and hyperpyruvatemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MIPEP Ivone Leong reviewed gene: MIPEP: Rating: GREEN; Mode of pathogenicity: ; Publications: 27799064; Phenotypes: Combined oxidative phosphorylation deficiency 31, 617228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MICU1 Ivone Leong reviewed gene: MICU1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myopathy with extrapyramidal signs, 615673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 C19orf70 Ivone Leong edited their review of gene: C19orf70: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed publications: 29618761, 27623147, 27485409; Changed phenotypes: No OMIM phenotype; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MGME1 Ivone Leong reviewed gene: MGME1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23313956; Phenotypes: Mitochondrial DNA depletion syndrome 11, 615084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MFN2 Ivone Leong reviewed gene: MFN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22189565, 22556188; Phenotypes: Optic atrophy plus, Mitochondrial DNA depletion syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MFF Ivone Leong reviewed gene: MFF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MECR Ivone Leong reviewed gene: MECR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MDH2 Ivone Leong reviewed gene: MDH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 51, 617339; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 MARS2 Ivone Leong reviewed gene: MARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Combined oxidative phosphorylation deficiency 25, 616430, Spastic ataxia 3, autosomal recessive, 611390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 LYRM7 Ivone Leong reviewed gene: LYRM7: Rating: GREEN; Mode of pathogenicity: ; Publications: 29353736; Phenotypes: Mitochondrial complex III deficiency, nuclear type 8, 615838; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 LYRM4 Ivone Leong reviewed gene: LYRM4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23814038; Phenotypes: ?Combined oxidative phosphorylation deficiency 19, 615595; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 LRPPRC Ivone Leong reviewed gene: LRPPRC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leigh syndrome, French-Canadian type, 220111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 LONP1 Ivone Leong reviewed gene: LONP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CODAS syndrome, 600373; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 LIPT2 Ivone Leong reviewed gene: LIPT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28757203, 28803783; Phenotypes: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES, 617668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 LIPT1 Ivone Leong reviewed gene: LIPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LIPOYLTRANSFERASE 1 DEFICIENCY, 616299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 LIAS Ivone Leong reviewed gene: LIAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, 614462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 LARS2 Ivone Leong reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021, Perrault syndrome 4, 615300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 KARS Ivone Leong reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641, Deafness, autosomal recessive 89 613916; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ISCU Ivone Leong reviewed gene: ISCU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myopathy with lactic acidosis, hereditary, 255125; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ISCA2 Ivone Leong reviewed gene: ISCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, 616370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ISCA1 Ivone Leong reviewed gene: ISCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28356563, 29767723; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 IDH3B Ivone Leong reviewed gene: IDH3B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 46, 612572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 IDH3A Ivone Leong reviewed gene: IDH3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 28412069, 28058510; Phenotypes: Retinitis pigmentosa with macular pseudocoloboma, Infantile encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 IBA57 Ivone Leong reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, 615330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 IARS2 Ivone Leong reviewed gene: IARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 HTRA2 Ivone Leong reviewed gene: HTRA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type VIII, 617248; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 HSPD1 Ivone Leong reviewed gene: HSPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 4, 612233, Spastic paraplegia 13, autosomal dominant 605280; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 HSD17B10 Ivone Leong reviewed gene: HSD17B10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HSD10 mitochondrial disease, 300438; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Possible mitochondrial disorder - nuclear genes v0.5 HLCS Ivone Leong reviewed gene: HLCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Holocarboxylase synthetase deficiency, 253270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 HIBCH Ivone Leong reviewed gene: HIBCH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY, 250620; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 HCCS Ivone Leong reviewed gene: HCCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Linear skin defects with multiple congenital anomalies 1, 309801; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Possible mitochondrial disorder - nuclear genes v0.5 HARS2 Ivone Leong reviewed gene: HARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Perrault syndrome 2, 614926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 GTPBP3 Ivone Leong reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 23, 61698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 GLRX5 Ivone Leong reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, 616859, ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, 616860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 GFM2 Ivone Leong reviewed gene: GFM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29075935; Phenotypes: Early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 GFM1 Ivone Leong reviewed gene: GFM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 1, 609060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 GFER Ivone Leong reviewed gene: GFER: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 GDAP1 Ivone Leong reviewed gene: GDAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2K, 607831, Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706, Charcot-Marie-Tooth disease, recessive intermediate, A, 608340, Charcot-Marie-Tooth disease, type 4A, 214400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 GATC Ivone Leong reviewed gene: GATC: Rating: GREEN; Mode of pathogenicity: ; Publications: 30283131; Phenotypes: Mitochondrial cardiomyopathy disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 GATB Ivone Leong reviewed gene: GATB: Rating: GREEN; Mode of pathogenicity: ; Publications: 30283131; Phenotypes: Mitochondrial cardiomyopathy disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 GARS Ivone Leong reviewed gene: GARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 2D, 601472, Neuropathy, distal hereditary motor, type VA, 600794; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Possible mitochondrial disorder - nuclear genes v0.5 FOXRED1 Ivone Leong reviewed gene: FOXRED1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 19, 618241; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 FLAD1 Ivone Leong reviewed gene: FLAD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 FH Ivone Leong reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fumarase deficiency, 606812, Leiomyomatosis and renal cell cancer, 150800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 FDXR Ivone Leong reviewed gene: FDXR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Auditory neuropathy and optic atrophy, 617717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 FDX2 Ivone Leong reviewed gene: FDX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24281368, 28803783, 30010796; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 FBXL4 Ivone Leong reviewed gene: FBXL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25868664; Phenotypes: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 FASTKD2 Ivone Leong reviewed gene: FASTKD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28499982; Phenotypes: ?Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 FARS2 Ivone Leong reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 14, 614946, Spastic paraplegia 77, autosomal recessive, 617046; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ETHE1 Ivone Leong reviewed gene: ETHE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ethylmalonic encephalopathy, 602473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ETFDH Ivone Leong reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Glutaric acidemia IIC, 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ERAL1 Ivone Leong reviewed gene: ERAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Perrault syndrome 6, 617565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ELAC2 Ivone Leong reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 17, 615440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ECSIT Ivone Leong reviewed gene: ECSIT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 ECHS1 Ivone Leong reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY, 616277; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 EARS2 Ivone Leong reviewed gene: EARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 12, 614924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 DNM2 Ivone Leong reviewed gene: DNM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25492887, 25492887 (abstract); Phenotypes: Centronuclear myopathy 1, 160150, Charcot-Marie-Tooth disease, axonal type 2M, 606482, Charcot-Marie-Tooth disease, dominant intermediate B, 606482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Possible mitochondrial disorder - nuclear genes v0.5 DNM1L Ivone Leong reviewed gene: DNM1L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388, Optic atrophy 5, 610708; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 DNAJC19 Ivone Leong reviewed gene: DNAJC19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type V, 610198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 DNA2 Ivone Leong reviewed gene: DNA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23352259; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Possible mitochondrial disorder - nuclear genes v0.5 DLD Ivone Leong reviewed gene: DLD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, 246900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 DLAT Ivone Leong reviewed gene: DLAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PYRUVATE DEHYDROGENASE E2 DEFICIENCY, 245348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 DGUOK Ivone Leong reviewed gene: DGUOK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 DARS2 Ivone Leong reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 CYC1 Ivone Leong reviewed gene: CYC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 6, 615453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COX8A Ivone Leong reviewed gene: COX8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COX7C Ivone Leong reviewed gene: COX7C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 COX7B Ivone Leong reviewed gene: COX7B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Linear skin defects with multiple congenital anomalies 2, 300887; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Possible mitochondrial disorder - nuclear genes v0.5 COX7A1 Ivone Leong reviewed gene: COX7A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 COX6C Ivone Leong reviewed gene: COX6C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 COX6B2 Ivone Leong reviewed gene: COX6B2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 COX6B1 Ivone Leong reviewed gene: COX6B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COX6A2 Ivone Leong reviewed gene: COX6A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 COX6A1 Ivone Leong reviewed gene: COX6A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, recessive intermediate D, 616039; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COX5B Ivone Leong reviewed gene: COX5B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 COX5A Ivone Leong reviewed gene: COX5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 28247525; Phenotypes: Pulmonary arterial hypertension, lactic acidemia, and failure to thrive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COX4I2 Ivone Leong reviewed gene: COX4I2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19268275; Phenotypes: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COX4I1 Ivone Leong reviewed gene: COX4I1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28766551; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COX20 Ivone Leong reviewed gene: COX20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COX19 Ivone Leong reviewed gene: COX19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 COX18 Ivone Leong reviewed gene: COX18: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 COX17 Ivone Leong reviewed gene: COX17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 COX16 Ivone Leong reviewed gene: COX16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 COX15 Ivone Leong reviewed gene: COX15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119, Leigh syndrome due to cytochrome c oxidase deficiency, 256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COX14 Ivone Leong reviewed gene: COX14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COX11 Ivone Leong reviewed gene: COX11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 COX10 Ivone Leong reviewed gene: COX10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COQ9 Ivone Leong reviewed gene: COQ9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 5, 614654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COQ8B Ivone Leong reviewed gene: COQ8B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephrotic syndrome, type 9, 615573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COQ8A Ivone Leong reviewed gene: COQ8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 4, 612016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COQ6 Ivone Leong reviewed gene: COQ6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 6, 614650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COQ4 Ivone Leong reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 7, 616276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COQ2 Ivone Leong reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 1, 607426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COA7 Ivone Leong reviewed gene: COA7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COA6 Ivone Leong reviewed gene: COA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 616501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COA5 Ivone Leong reviewed gene: COA5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COA4 Ivone Leong reviewed gene: COA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 COA3 Ivone Leong reviewed gene: COA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 25604084; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 COA1 Ivone Leong reviewed gene: COA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 CLPP Ivone Leong reviewed gene: CLPP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Perrault syndrome 3, 614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 CLPB Ivone Leong reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 CHCHD10 Ivone Leong reviewed gene: CHCHD10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Myopathy, isolated mitochondrial, autosomal dominant, 616209, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911, Spinal muscular atrophy, Jokela type 615048; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Possible mitochondrial disorder - nuclear genes v0.5 CEP89 Ivone Leong reviewed gene: CEP89: Rating: GREEN; Mode of pathogenicity: ; Publications: 23575228; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 CARS2 Ivone Leong reviewed gene: CARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 27, 616672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 CA5A Ivone Leong reviewed gene: CA5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperammonemia due to carbonic anhydrase VA deficiency, 615751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 C1QBP Ivone Leong reviewed gene: C1QBP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 33, 617713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 C12orf65 Ivone Leong reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 7, 613559, Spastic paraplegia 55, autosomal recessive, 615035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 BTD Ivone Leong reviewed gene: BTD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Biotinidase deficiency, 253260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 BOLA3 Ivone Leong reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, 614299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 BCS1L Ivone Leong reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 1, 124000, Leigh syndrome, 256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ATPAF2 Ivone Leong reviewed gene: ATPAF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ATPAF1 Ivone Leong reviewed gene: ATPAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 ATP5O Ivone Leong edited their review of gene: ATP5O: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed phenotypes: No OMIM phenotype; Changed mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 ATP5J Ivone Leong edited their review of gene: ATP5J: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed phenotypes: No OMIM phenotype; Changed mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 ATP5H Ivone Leong edited their review of gene: ATP5H: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed phenotypes: No OMIM phenotype; Changed mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 ATP5F1 Ivone Leong edited their review of gene: ATP5F1: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed phenotypes: No OMIM phenotype; Changed mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 ATP5L2 Ivone Leong edited their review of gene: ATP5L2: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed phenotypes: No OMIM phenotype; Changed mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 ATP5L Ivone Leong edited their review of gene: ATP5L: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed phenotypes: No OMIM phenotype; Changed mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 ATP5J2 Ivone Leong edited their review of gene: ATP5J2: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed phenotypes: No OMIM phenotype; Changed mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 ATP5I Ivone Leong edited their review of gene: ATP5I: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed phenotypes: No OMIM phenotype; Changed mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 ATP5G3 Ivone Leong edited their review of gene: ATP5G3: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed phenotypes: No OMIM phenotype; Changed mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 ATP5G2 Ivone Leong edited their review of gene: ATP5G2: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed phenotypes: No OMIM phenotype; Changed mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 ATP5G1 Ivone Leong edited their review of gene: ATP5G1: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed phenotypes: No OMIM phenotype; Changed mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 ATP5E Ivone Leong edited their review of gene: ATP5E: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed phenotypes: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ATP5D Ivone Leong edited their review of gene: ATP5D: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed phenotypes: Mitochondrial complex V (ATP synthase) deficiency, 618120; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ATP5C1 Ivone Leong edited their review of gene: ATP5C1: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed phenotypes: No OMIM phenotype; Changed mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 ATP5B Ivone Leong edited their review of gene: ATP5B: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed phenotypes: No OMIM phenotype; Changed mode of inheritance: Unknown
Possible mitochondrial disorder - nuclear genes v0.5 ATP5A1 Ivone Leong edited their review of gene: ATP5A1: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed phenotypes: ?Combined oxidative phosphorylation deficiency 22, 616045, ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, 615228; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ATAD3A Ivone Leong reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Harel-Yoon syndrome, 617183; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 APTX Ivone Leong reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 APOPT1 Ivone Leong reviewed gene: APOPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ANO10 Ivone Leong reviewed gene: ANO10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 10, 613728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 AIFM1 Ivone Leong reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 6, 300816; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Possible mitochondrial disorder - nuclear genes v0.5 AGK Ivone Leong reviewed gene: AGK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL DNA DEPLETION SYNDROME 10 (CARDIOMYOPATHIC TYPE), 212350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 AFG3L2 Ivone Leong reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25420100; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ACO2 Ivone Leong reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Infantile cerebellar-retinal degeneration, 614559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ACAD9 Ivone Leong reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 20, 611126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 ABCB7 Ivone Leong reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Anemia, sideroblastic, with ataxia, 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Possible mitochondrial disorder - nuclear genes v0.5 ABAT Ivone Leong reviewed gene: ABAT: Rating: GREEN; Mode of pathogenicity: ; Publications: 25738457; Phenotypes: Mitochondrial DNA depletion syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.5 AARS2 Ivone Leong reviewed gene: AARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 8, 614096, Leukoencephalopathy, progressive, with ovarian failure, 615889; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.4 XPNPEP3 Ivone Leong gene: XPNPEP3 was added
gene: XPNPEP3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XPNPEP3 were set to Nephronophthisis-like nephropathy 1, 613159
Possible mitochondrial disorder - nuclear genes v0.4 WFS1 Ivone Leong gene: WFS1 was added
gene: WFS1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: WFS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: WFS1 were set to Deafness, autosomal dominant 6/14/38, 600965; Wolfram-like syndrome, autosomal dominant, 614296; Wolfram syndrome 1, 222300
Possible mitochondrial disorder - nuclear genes v0.4 VPS13C Ivone Leong gene: VPS13C was added
gene: VPS13C was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: VPS13C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13C were set to Parkinson disease 23, autosomal recessive, early onset, 616840
Possible mitochondrial disorder - nuclear genes v0.4 TRAP1 Ivone Leong gene: TRAP1 was added
gene: TRAP1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: TRAP1 was set to Unknown
Phenotypes for gene: TRAP1 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.4 TMEM126A Ivone Leong gene: TMEM126A was added
gene: TMEM126A was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: TMEM126A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM126A were set to Optic atrophy 7, 612989
Possible mitochondrial disorder - nuclear genes v0.4 TANGO2 Ivone Leong gene: TANGO2 was added
gene: TANGO2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878
Possible mitochondrial disorder - nuclear genes v0.4 SUCLG2 Ivone Leong gene: SUCLG2 was added
gene: SUCLG2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: SUCLG2 was set to Unknown
Phenotypes for gene: SUCLG2 were set to None
Possible mitochondrial disorder - nuclear genes v0.4 STAT2 Ivone Leong gene: STAT2 was added
gene: STAT2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: STAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAT2 were set to Immunodeficiency 44, 616636
Possible mitochondrial disorder - nuclear genes v0.4 SSBP1 Ivone Leong gene: SSBP1 was added
gene: SSBP1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: SSBP1 was set to Unknown
Phenotypes for gene: SSBP1 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.4 SRRT Ivone Leong gene: SRRT was added
gene: SRRT was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: SRRT was set to Unknown
Phenotypes for gene: SRRT were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.4 SLC52A3 Ivone Leong gene: SLC52A3 was added
gene: SLC52A3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1, 211530
Possible mitochondrial disorder - nuclear genes v0.4 SLC52A2 Ivone Leong gene: SLC52A2 was added
gene: SLC52A2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, 614707
Possible mitochondrial disorder - nuclear genes v0.4 SLC25A40 Ivone Leong gene: SLC25A40 was added
gene: SLC25A40 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: SLC25A40 was set to Unknown
Phenotypes for gene: SLC25A40 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.4 SLC25A20 Ivone Leong gene: SLC25A20 was added
gene: SLC25A20 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A20 were set to Carnitine-acylcarnitine translocase deficiency, 212138
Possible mitochondrial disorder - nuclear genes v0.4 SLC25A13 Ivone Leong gene: SLC25A13 was added
gene: SLC25A13 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A13 were set to Citrullinemia, adult-onset type II, 603471; Citrullinemia, type II, neonatal-onset 605814
Possible mitochondrial disorder - nuclear genes v0.4 SLC22A5 Ivone Leong gene: SLC22A5 was added
gene: SLC22A5 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary, 212140
Possible mitochondrial disorder - nuclear genes v0.4 SAMHD1 Ivone Leong gene: SAMHD1 was added
gene: SAMHD1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome 5, 612952
Possible mitochondrial disorder - nuclear genes v0.4 ROBO3 Ivone Leong gene: ROBO3 was added
gene: ROBO3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: ROBO3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ROBO3 were set to Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313
Possible mitochondrial disorder - nuclear genes v0.4 QARS Ivone Leong gene: QARS was added
gene: QARS was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: QARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: QARS were set to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760
Possible mitochondrial disorder - nuclear genes v0.4 PYCR1 Ivone Leong gene: PYCR1 was added
gene: PYCR1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYCR1 were set to Cutis laxa, autosomal recessive, type IIIB, 614438; Cutis laxa, autosomal recessive, type IIB, 612940
Possible mitochondrial disorder - nuclear genes v0.4 PPOX Ivone Leong gene: PPOX was added
gene: PPOX was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPOX were set to Porphyria variegata, 176200
Possible mitochondrial disorder - nuclear genes v0.4 PNPLA4 Ivone Leong gene: PNPLA4 was added
gene: PNPLA4 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: PNPLA4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PNPLA4 were set to 26741492
Phenotypes for gene: PNPLA4 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.4 PITRM1 Ivone Leong gene: PITRM1 was added
gene: PITRM1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: PITRM1 was set to Unknown
Phenotypes for gene: PITRM1 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.4 PDPR Ivone Leong gene: PDPR was added
gene: PDPR was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: PDPR was set to Unknown
Phenotypes for gene: PDPR were set to None
Possible mitochondrial disorder - nuclear genes v0.4 PDP2 Ivone Leong gene: PDP2 was added
gene: PDP2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: PDP2 was set to Unknown
Phenotypes for gene: PDP2 were set to None
Possible mitochondrial disorder - nuclear genes v0.4 PDK3 Ivone Leong gene: PDK3 was added
gene: PDK3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: PDK3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PDK3 were set to ?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905
Possible mitochondrial disorder - nuclear genes v0.4 PANK2 Ivone Leong gene: PANK2 was added
gene: PANK2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PANK2 were set to HARP syndrome, 607236; Neurodegeneration with brain iron accumulation 1, 234200
Possible mitochondrial disorder - nuclear genes v0.4 OXCT1 Ivone Leong gene: OXCT1 was added
gene: OXCT1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OXCT1 were set to Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050
Possible mitochondrial disorder - nuclear genes v0.4 L2HGDH Ivone Leong gene: L2HGDH was added
gene: L2HGDH was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: L2HGDH were set to L-2-hydroxyglutaric aciduria, 236792
Possible mitochondrial disorder - nuclear genes v0.4 IER3IP1 Ivone Leong gene: IER3IP1 was added
gene: IER3IP1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome, 614231
Possible mitochondrial disorder - nuclear genes v0.4 HTT Ivone Leong gene: HTT was added
gene: HTT was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: HTT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HTT were set to Huntington disease, 143100
Possible mitochondrial disorder - nuclear genes v0.4 HSPA9 Ivone Leong gene: HSPA9 was added
gene: HSPA9 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: HSPA9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HSPA9 were set to Even-plus syndrome, 616854; Anemia, sideroblastic, 4, 182170; Also Parkinson disease association?
Possible mitochondrial disorder - nuclear genes v0.4 HMGCS2 Ivone Leong gene: HMGCS2 was added
gene: HMGCS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HMGCS2 were set to HMG-CoA synthase-2 deficiency, 605911
Possible mitochondrial disorder - nuclear genes v0.4 HMGCL Ivone Leong gene: HMGCL was added
gene: HMGCL was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HMGCL were set to HMG-CoA lyase deficiency, 246450
Possible mitochondrial disorder - nuclear genes v0.4 HADHB Ivone Leong gene: HADHB was added
gene: HADHB was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, 609015
Possible mitochondrial disorder - nuclear genes v0.4 HADHA Ivone Leong gene: HADHA was added
gene: HADHA was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHA were set to Trifunctional protein deficiency, 609015; LCHAD deficiency, 609016
Possible mitochondrial disorder - nuclear genes v0.4 HADH Ivone Leong gene: HADH was added
gene: HADH was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADH were set to Hyperinsulinemic hypoglycemia, familial, 4, 609975; 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530
Possible mitochondrial disorder - nuclear genes v0.4 GLUD1 Ivone Leong gene: GLUD1 was added
gene: GLUD1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GLUD1 were set to Hyperinsulinism-hyperammonemia syndrome, 606762
Possible mitochondrial disorder - nuclear genes v0.4 GATM Ivone Leong gene: GATM was added
gene: GATM was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GATM were set to Cerebral creatine deficiency syndrome 3, 612718
Possible mitochondrial disorder - nuclear genes v0.4 G6PC Ivone Leong gene: G6PC was added
gene: G6PC was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: G6PC were set to Glycogen storage disease Ia, 232200
Possible mitochondrial disorder - nuclear genes v0.4 FXN Ivone Leong gene: FXN was added
gene: FXN was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FXN were set to Friedreich ataxia, 229300
Possible mitochondrial disorder - nuclear genes v0.4 ETFB Ivone Leong gene: ETFB was added
gene: ETFB was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFB were set to Glutaric acidemia IIB ,231680
Possible mitochondrial disorder - nuclear genes v0.4 ETFA Ivone Leong gene: ETFA was added
gene: ETFA was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFA were set to Glutaric acidemia IIA ,231680
Possible mitochondrial disorder - nuclear genes v0.4 DHTKD1 Ivone Leong gene: DHTKD1 was added
gene: DHTKD1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: DHTKD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DHTKD1 were set to ?Charcot-Marie-Tooth disease, axonal, type 2Q 615025; 2-aminoadipic 2-oxoadipic aciduria, 204750
Possible mitochondrial disorder - nuclear genes v0.4 DCC Ivone Leong gene: DCC was added
gene: DCC was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: DCC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DCC were set to Mirror movements 1 and/or agenesis of the corpus callosum, 157600; Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542
Possible mitochondrial disorder - nuclear genes v0.4 DARS Ivone Leong gene: DARS was added
gene: DARS was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS were set to Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
Possible mitochondrial disorder - nuclear genes v0.4 D2HGDH Ivone Leong gene: D2HGDH was added
gene: D2HGDH was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria, 600721
Possible mitochondrial disorder - nuclear genes v0.4 CYCS Ivone Leong gene: CYCS was added
gene: CYCS was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: CYCS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CYCS were set to Thrombocytopenia 4, 612004
Possible mitochondrial disorder - nuclear genes v0.4 CPT2 Ivone Leong gene: CPT2 was added
gene: CPT2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: CPT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CPT2 were set to CPT II deficiency, myopathic, stress-induced, 255110
Possible mitochondrial disorder - nuclear genes v0.4 CPT1A Ivone Leong gene: CPT1A was added
gene: CPT1A was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT1A were set to CPT deficiency, hepatic, type IA, 255120
Possible mitochondrial disorder - nuclear genes v0.4 COASY Ivone Leong gene: COASY was added
gene: COASY was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COASY were set to Pontocerebellar hypoplasia, type 12, 618266; Neurodegeneration with brain iron accumulation 6, 615643
Possible mitochondrial disorder - nuclear genes v0.4 CISD2 Ivone Leong gene: CISD2 was added
gene: CISD2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CISD2 were set to Wolfram syndrome 2, 604928
Possible mitochondrial disorder - nuclear genes v0.4 CHKB Ivone Leong gene: CHKB was added
gene: CHKB was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type, 602541
Possible mitochondrial disorder - nuclear genes v0.4 C19orf12 Ivone Leong gene: C19orf12 was added
gene: C19orf12 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C19orf12 were set to Neurodegeneration with brain iron accumulation 4, 614298; ?Spastic paraplegia 43, autosomal recessive, 615043
Possible mitochondrial disorder - nuclear genes v0.4 ACAT1 Ivone Leong gene: ACAT1 was added
gene: ACAT1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria, 203750
Possible mitochondrial disorder - nuclear genes v0.4 ACADVL Ivone Leong gene: ACADVL was added
gene: ACADVL was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADVL were set to VLCAD deficiency, 201475
Possible mitochondrial disorder - nuclear genes v0.4 ACADSB Ivone Leong gene: ACADSB was added
gene: ACADSB was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADSB were set to 2-methylbutyrylglycinuria, 610006
Possible mitochondrial disorder - nuclear genes v0.4 ACADS Ivone Leong gene: ACADS was added
gene: ACADS was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADS were set to Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470
Possible mitochondrial disorder - nuclear genes v0.4 ACADM Ivone Leong gene: ACADM was added
gene: ACADM was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450
Possible mitochondrial disorder - nuclear genes v0.4 TIMM44 Ivone Leong gene: TIMM44 was added
gene: TIMM44 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: TIMM44 was set to Unknown
Phenotypes for gene: TIMM44 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.4 SLC25A32 Ivone Leong gene: SLC25A32 was added
gene: SLC25A32 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SLC25A32 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A32 were set to ?Exercise intolerance, riboflavin-responsive, 616839
Possible mitochondrial disorder - nuclear genes v0.4 SLC25A22 Ivone Leong gene: SLC25A22 was added
gene: SLC25A22 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A22 were set to Epileptic encephalopathy, early infantile, 3, 609304
Possible mitochondrial disorder - nuclear genes v0.4 SLC25A21 Ivone Leong gene: SLC25A21 was added
gene: SLC25A21 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Amber
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 No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.4 PNPLA8 Ivone Leong gene: PNPLA8 was added
gene: PNPLA8 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PNPLA8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA8 were set to 29681094; 25512002; 25473036
Phenotypes for gene: PNPLA8 were set to ?Mitochondrial myopathy with lactic acidosis, 251950
Possible mitochondrial disorder - nuclear genes v0.4 NNT Ivone Leong gene: NNT was added
gene: NNT was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NNT were set to Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736
Possible mitochondrial disorder - nuclear genes v0.4 COQ7 Ivone Leong gene: COQ7 was added
gene: COQ7 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ7 were set to 28409910
Phenotypes for gene: COQ7 were set to ?Coenzyme Q10 deficiency, primary, 8 616733
Possible mitochondrial disorder - nuclear genes v0.4 COQ5 Ivone Leong gene: COQ5 was added
gene: COQ5 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Amber
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 No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.4 YME1L1 Ivone Leong gene: YME1L1 was added
gene: YME1L1 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: YME1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: YME1L1 were set to ?Optic atrophy 11, 617302
Possible mitochondrial disorder - nuclear genes v0.4 YARS2 Ivone Leong gene: YARS2 was added
gene: YARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: YARS2 were set to Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561
Possible mitochondrial disorder - nuclear genes v0.4 WARS2 Ivone Leong gene: WARS2 was added
gene: WARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: WARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WARS2 were set to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710
Possible mitochondrial disorder - nuclear genes v0.4 VARS2 Ivone Leong gene: VARS2 was added
gene: VARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: VARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VARS2 were set to Combined oxidative phosphorylation deficiency 20, 615917
Possible mitochondrial disorder - nuclear genes v0.4 UQCRQ Ivone Leong gene: UQCRQ was added
gene: UQCRQ was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRQ were set to Mitochondrial complex III deficiency, nuclear type 4, 615159
Possible mitochondrial disorder - nuclear genes v0.4 UQCRH Ivone Leong gene: UQCRH was added
gene: UQCRH was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: UQCRH was set to Unknown
Phenotypes for gene: UQCRH were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.4 UQCRFS1 Ivone Leong gene: UQCRFS1 was added
gene: UQCRFS1 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: UQCRFS1 was set to Unknown
Phenotypes for gene: UQCRFS1 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.4 UQCRC2 Ivone Leong gene: UQCRC2 was added
gene: UQCRC2 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: UQCRC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRC2 were set to Mitochondrial complex III deficiency, nuclear type 5, 615160
Possible mitochondrial disorder - nuclear genes v0.4 UQCRC1 Ivone Leong gene: UQCRC1 was added
gene: UQCRC1 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: UQCRC1 was set to Unknown
Phenotypes for gene: UQCRC1 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.4 UQCRB Ivone Leong gene: UQCRB was added
gene: UQCRB was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRB were set to Mitochondrial complex III deficiency, nuclear type 3, 615158
Possible mitochondrial disorder - nuclear genes v0.4 UQCR11 Ivone Leong gene: UQCR11 was added
gene: UQCR11 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: UQCR11 was set to Unknown
Phenotypes for gene: UQCR11 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.4 UQCR10 Ivone Leong gene: UQCR10 was added
gene: UQCR10 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: UQCR10 was set to Unknown
Phenotypes for gene: UQCR10 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.4 UQCC3 Ivone Leong gene: UQCC3 was added
gene: UQCC3 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: UQCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCC3 were set to ?Mitochondrial complex III deficiency, nuclear type 9, 616111
Possible mitochondrial disorder - nuclear genes v0.4 UQCC2 Ivone Leong gene: UQCC2 was added
gene: UQCC2 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: UQCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCC2 were set to Mitochondrial complex III deficiency, nuclear type 7, 615824
Possible mitochondrial disorder - nuclear genes v0.4 UQCC1 Ivone Leong gene: UQCC1 was added
gene: UQCC1 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: UQCC1 was set to Unknown
Phenotypes for gene: UQCC1 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.4 TYMP Ivone Leong gene: TYMP was added
gene: TYMP was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041
Possible mitochondrial disorder - nuclear genes v0.4 TXN2 Ivone Leong gene: TXN2 was added
gene: TXN2 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TXN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TXN2 were set to ?Combined oxidative phosphorylation deficiency 29, 616811
Possible mitochondrial disorder - nuclear genes v0.4 TWNK Ivone Leong gene: TWNK was added
gene: TWNK was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286
Possible mitochondrial disorder - nuclear genes v0.4 TUFM Ivone Leong gene: TUFM was added
gene: TUFM was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUFM were set to Combined oxidative phosphorylation deficiency 4, 610678
Possible mitochondrial disorder - nuclear genes v0.4 TTC19 Ivone Leong gene: TTC19 was added
gene: TTC19 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC19 were set to Mitochondrial complex III deficiency, nuclear type 2, 615157
Possible mitochondrial disorder - nuclear genes v0.4 TSFM Ivone Leong gene: TSFM was added
gene: TSFM was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3, 610505
Possible mitochondrial disorder - nuclear genes v0.4 TRNT1 Ivone Leong gene: TRNT1 was added
gene: TRNT1 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRNT1 were set to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084; Retinitis pigmentosa and erythrocytic microcytosis, 616959
Possible mitochondrial disorder - nuclear genes v0.4 TRMU Ivone Leong gene: TRMU was added
gene: TRMU was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMU were set to LIVER FAILURE, INFANTILE, TRANSIENT, 613070
Possible mitochondrial disorder - nuclear genes v0.4 TRMT5 Ivone Leong gene: TRMT5 was added
gene: TRMT5 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TRMT5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMT5 were set to Combined oxidative phosphorylation deficiency 26, 616539
Possible mitochondrial disorder - nuclear genes v0.4 TRMT10C Ivone Leong gene: TRMT10C was added
gene: TRMT10C was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TRMT10C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMT10C were set to Combined oxidative phosphorylation deficiency 30, 616974
Possible mitochondrial disorder - nuclear genes v0.4 TRIT1 Ivone Leong gene: TRIT1 was added
gene: TRIT1 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TRIT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIT1 were set to Combined oxidative phosphorylation deficiency 35, 617873
Possible mitochondrial disorder - nuclear genes v0.4 TPK1 Ivone Leong gene: TPK1 was added
gene: TPK1 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TPK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPK1 were set to THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), 614458
Possible mitochondrial disorder - nuclear genes v0.3 TOP3A Ivone Leong gene: TOP3A was added
gene: TOP3A was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TOP3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOP3A were set to 29290614
Phenotypes for gene: TOP3A were set to ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098
Possible mitochondrial disorder - nuclear genes v0.3 TMEM70 Ivone Leong gene: TMEM70 was added
gene: TMEM70 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
Possible mitochondrial disorder - nuclear genes v0.3 TMEM65 Ivone Leong gene: TMEM65 was added
gene: TMEM65 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,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 No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 TMEM126B Ivone Leong gene: TMEM126B was added
gene: TMEM126B was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TMEM126B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM126B were set to Mitochondrial complex I deficiency, nuclear type 29, 618250
Possible mitochondrial disorder - nuclear genes v0.3 TK2 Ivone Leong gene: TK2 was added
gene: TK2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TK2 were set to 21937588
Phenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069
Possible mitochondrial disorder - nuclear genes v0.3 TIMMDC1 Ivone Leong gene: TIMMDC1 was added
gene: TIMMDC1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TIMMDC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TIMMDC1 were set to Mitochondrial complex I deficiency, nuclear type 31, 618251
Possible mitochondrial disorder - nuclear genes v0.3 TIMM8A Ivone Leong gene: TIMM8A was added
gene: TIMM8A was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TIMM8A were set to Mohr-Tranebjaerg syndrome, 304700
Possible mitochondrial disorder - nuclear genes v0.3 TIMM50 Ivone Leong gene: TIMM50 was added
gene: TIMM50 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TIMM50 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TIMM50 were set to 3-methylglutaconic aciduria, type IX, 617698
Possible mitochondrial disorder - nuclear genes v0.3 TIMM22 Ivone Leong gene: TIMM22 was added
gene: TIMM22 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,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 No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 TFAM Ivone Leong gene: TFAM was added
gene: TFAM was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TFAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TFAM were set to 27448789
Phenotypes for gene: TFAM were set to ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156
Possible mitochondrial disorder - nuclear genes v0.3 TAZ Ivone Leong gene: TAZ was added
gene: TAZ was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TAZ were set to Barth syndrome, 302060
Possible mitochondrial disorder - nuclear genes v0.3 TARS2 Ivone Leong gene: TARS2 was added
gene: TARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TARS2 were set to ?Combined oxidative phosphorylation deficiency 21, 615918
Possible mitochondrial disorder - nuclear genes v0.3 TACO1 Ivone Leong gene: TACO1 was added
gene: TACO1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TACO1 were set to Mitochondrial complex IV deficiency, 220110
Possible mitochondrial disorder - nuclear genes v0.3 SURF1 Ivone Leong gene: SURF1 was added
gene: SURF1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SURF1 were set to Charcot-Marie-Tooth disease, type 4K, 616684; Leigh syndrome, due to COX IV deficiency, 256000
Possible mitochondrial disorder - nuclear genes v0.3 SUCLG1 Ivone Leong gene: SUCLG1 was added
gene: SUCLG1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLG1 were set to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400
Possible mitochondrial disorder - nuclear genes v0.3 SUCLA2 Ivone Leong gene: SUCLA2 was added
gene: SUCLA2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073
Possible mitochondrial disorder - nuclear genes v0.3 SPG7 Ivone Leong gene: SPG7 was added
gene: SPG7 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SPG7 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SPG7 were set to 24727571
Phenotypes for gene: SPG7 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions
Possible mitochondrial disorder - nuclear genes v0.3 SLC25A46 Ivone Leong gene: SLC25A46 was added
gene: SLC25A46 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A46 were set to Neuropathy, hereditary motor and sensory, type VIB, 616505
Possible mitochondrial disorder - nuclear genes v0.3 SLC25A42 Ivone Leong gene: SLC25A42 was added
gene: SLC25A42 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC25A42 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A42 were set to 26541337; 29923093; 29327420
Phenotypes for gene: SLC25A42 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 SLC25A4 Ivone Leong gene: SLC25A4 was added
gene: SLC25A4 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC25A4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC25A4 were set to 27693233
Phenotypes for gene: SLC25A4 were set to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418
Possible mitochondrial disorder - nuclear genes v0.3 SLC25A38 Ivone Leong gene: SLC25A38 was added
gene: SLC25A38 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A38 were set to Anemia, sideroblastic, 2, pyridoxine-refractory, 205950
Possible mitochondrial disorder - nuclear genes v0.3 SLC25A3 Ivone Leong gene: SLC25A3 was added
gene: SLC25A3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC25A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A3 were set to Mitochondrial phosphate carrier deficiency, 610773
Possible mitochondrial disorder - nuclear genes v0.3 SLC25A26 Ivone Leong gene: SLC25A26 was added
gene: SLC25A26 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC25A26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A26 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, 616794
Possible mitochondrial disorder - nuclear genes v0.3 SLC25A19 Ivone Leong gene: SLC25A19 was added
gene: SLC25A19 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A19 were set to MICROCEPHALY, AMISH TYPE, 607196; THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE), 613710
Possible mitochondrial disorder - nuclear genes v0.3 SLC25A12 Ivone Leong gene: SLC25A12 was added
gene: SLC25A12 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC25A12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A12 were set to Epileptic encephalopathy, early infantile, 39, 612949
Possible mitochondrial disorder - nuclear genes v0.3 SLC25A1 Ivone Leong gene: SLC25A1 was added
gene: SLC25A1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A1 were set to ?Myasthenic syndrome, congenital, 23, presynaptic, 618197; Combined D-2- and L-2-hydroxyglutaric aciduria, 615182
Possible mitochondrial disorder - nuclear genes v0.3 SLC19A3 Ivone Leong gene: SLC19A3 was added
gene: SLC19A3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A3 were set to THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE), 607483
Possible mitochondrial disorder - nuclear genes v0.3 SLC19A2 Ivone Leong gene: SLC19A2 was added
gene: SLC19A2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A2 were set to THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, 249270
Possible mitochondrial disorder - nuclear genes v0.3 SFXN4 Ivone Leong gene: SFXN4 was added
gene: SFXN4 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SFXN4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SFXN4 were set to 24119684
Phenotypes for gene: SFXN4 were set to Combined oxidative phosphorylation deficiency 18, 615578
Possible mitochondrial disorder - nuclear genes v0.3 SERAC1 Ivone Leong gene: SERAC1 was added
gene: SERAC1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERAC1 were set to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739
Possible mitochondrial disorder - nuclear genes v0.3 SDHD Ivone Leong gene: SDHD was added
gene: SDHD was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHD were set to Mitochondrial respiratory chain complex II deficiency, 252011
Possible mitochondrial disorder - nuclear genes v0.3 SDHC Ivone Leong gene: SDHC was added
gene: SDHC was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHC was set to Unknown
Phenotypes for gene: SDHC were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 SDHB Ivone Leong gene: SDHB was added
gene: SDHB was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDHB were set to 22972948
Phenotypes for gene: SDHB were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 SDHAF4 Ivone Leong gene: SDHAF4 was added
gene: SDHAF4 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHAF4 was set to Unknown
Phenotypes for gene: SDHAF4 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 SDHAF3 Ivone Leong gene: SDHAF3 was added
gene: SDHAF3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHAF3 was set to Unknown
Phenotypes for gene: SDHAF3 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 SDHAF2 Ivone Leong gene: SDHAF2 was added
gene: SDHAF2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHAF2 was set to Unknown
Phenotypes for gene: SDHAF2 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 SDHAF1 Ivone Leong gene: SDHAF1 was added
gene: SDHAF1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHAF1 were set to Mitochondrial respiratory chain complex II deficiency, 252011
Possible mitochondrial disorder - nuclear genes v0.3 SDHA Ivone Leong gene: SDHA was added
gene: SDHA was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHA were set to Mitochondrial respiratory chain complex II deficiency, 252011; Leigh syndrome, 256000
Possible mitochondrial disorder - nuclear genes v0.3 SCO2 Ivone Leong gene: SCO2 was added
gene: SCO2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO2 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377
Possible mitochondrial disorder - nuclear genes v0.3 SCO1 Ivone Leong gene: SCO1 was added
gene: SCO1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO1 were set to Mitochondrial complex IV deficiency, 220110
Possible mitochondrial disorder - nuclear genes v0.3 SARS2 Ivone Leong gene: SARS2 was added
gene: SARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SARS2 were set to Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845
Possible mitochondrial disorder - nuclear genes v0.3 SACS Ivone Leong gene: SACS was added
gene: SACS was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SACS was set to BiALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type, 270550
Possible mitochondrial disorder - nuclear genes v0.3 RTN4IP1 Ivone Leong gene: RTN4IP1 was added
gene: RTN4IP1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RTN4IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RTN4IP1 were set to Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732
Possible mitochondrial disorder - nuclear genes v0.3 RRM2B Ivone Leong gene: RRM2B was added
gene: RRM2B was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RRM2B was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: RRM2B were set to 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type); Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077
Possible mitochondrial disorder - nuclear genes v0.3 RNASEH1 Ivone Leong gene: RNASEH1 was added
gene: RNASEH1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RNASEH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH1 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Possible mitochondrial disorder - nuclear genes v0.3 RMND1 Ivone Leong gene: RMND1 was added
gene: RMND1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMND1 were set to Combined oxidative phosphorylation deficiency 11, 614922
Possible mitochondrial disorder - nuclear genes v0.3 RARS2 Ivone Leong gene: RARS2 was added
gene: RARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RARS2 were set to Pontocerebellar hypoplasia, type 6, 611523
Possible mitochondrial disorder - nuclear genes v0.3 QRSL1 Ivone Leong gene: QRSL1 was added
gene: QRSL1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: QRSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: QRSL1 were set to 30283131; 26741492
Phenotypes for gene: QRSL1 were set to Mitochondrial cardiomyopathy
Possible mitochondrial disorder - nuclear genes v0.3 PUS1 Ivone Leong gene: PUS1 was added
gene: PUS1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PUS1 were set to Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462
Possible mitochondrial disorder - nuclear genes v0.3 PTCD3 Ivone Leong gene: PTCD3 was added
gene: PTCD3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PTCD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTCD3 were set to 30607703
Phenotypes for gene: PTCD3 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 PPA2 Ivone Leong gene: PPA2 was added
gene: PPA2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPA2 were set to 27523597
Phenotypes for gene: PPA2 were set to Sudden cardiac failure, infantile, 617222; ?Sudden cardiac failure, alcohol-induced, 617223
Possible mitochondrial disorder - nuclear genes v0.3 POLG2 Ivone Leong gene: POLG2 was added
gene: POLG2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: POLG2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: POLG2 were set to 30157269
Phenotypes for gene: POLG2 were set to Mitochondrial DNA depletion syndrome, NA; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131
Possible mitochondrial disorder - nuclear genes v0.3 POLG Ivone Leong gene: POLG was added
gene: POLG was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662; Progressive external ophthalmoplegia, autosomal dominant 1, 157640; Progressive external ophthalmoplegia, autosomal recessive 1, 258450
Possible mitochondrial disorder - nuclear genes v0.3 PNPT1 Ivone Leong gene: PNPT1 was added
gene: PNPT1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PNPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPT1 were set to Deafness, autosomal recessive 70, 614934; Combined oxidative phosphorylation deficiency 13, 614932
Possible mitochondrial disorder - nuclear genes v0.3 PMPCB Ivone Leong gene: PMPCB was added
gene: PMPCB was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PMPCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMPCB were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6, 617954
Possible mitochondrial disorder - nuclear genes v0.3 PMPCA Ivone Leong gene: PMPCA was added
gene: PMPCA was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMPCA were set to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, 213200
Possible mitochondrial disorder - nuclear genes v0.3 PET117 Ivone Leong gene: PET117 was added
gene: PET117 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PET117 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PET117 were set to 28386624
Phenotypes for gene: PET117 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 PET100 Ivone Leong gene: PET100 was added
gene: PET100 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PET100 were set to Mitochondrial complex IV deficiency, 220110
Possible mitochondrial disorder - nuclear genes v0.3 PDSS2 Ivone Leong gene: PDSS2 was added
gene: PDSS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PDSS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDSS2 were set to Coenzyme Q10 deficiency, primary, 3, 614652
Possible mitochondrial disorder - nuclear genes v0.3 PDSS1 Ivone Leong gene: PDSS1 was added
gene: PDSS1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDSS1 were set to 22494076
Phenotypes for gene: PDSS1 were set to Coenzyme Q10 deficiency, primary, 2, 614651
Possible mitochondrial disorder - nuclear genes v0.3 PDP1 Ivone Leong gene: PDP1 was added
gene: PDP1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDP1 were set to PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, 608782
Possible mitochondrial disorder - nuclear genes v0.3 PDHX Ivone Leong gene: PDHX was added
gene: PDHX was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDHX were set to PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY, 245349
Possible mitochondrial disorder - nuclear genes v0.3 PDHB Ivone Leong gene: PDHB was added
gene: PDHB was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDHB were set to 18164639; 15138885; 19924563
Phenotypes for gene: PDHB were set to PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY, 614111
Possible mitochondrial disorder - nuclear genes v0.3 PDHA1 Ivone Leong gene: PDHA1 was added
gene: PDHA1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PDHA1 were set to PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, 312170
Possible mitochondrial disorder - nuclear genes v0.3 PC Ivone Leong gene: PC was added
gene: PC was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency, 266150
Possible mitochondrial disorder - nuclear genes v0.3 PARS2 Ivone Leong gene: PARS2 was added
gene: PARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PARS2 were set to 28077841; 27290639; 25629079; 29915213
Phenotypes for gene: PARS2 were set to Infantile-onset encephalopathy; Alpers syndrome; Infantile-onset neurodegenerative disorder
Possible mitochondrial disorder - nuclear genes v0.3 OXA1L Ivone Leong gene: OXA1L was added
gene: OXA1L was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: OXA1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXA1L were set to 30201738
Phenotypes for gene: OXA1L were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 OPA3 Ivone Leong gene: OPA3 was added
gene: OPA3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: OPA3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501; Optic atrophy 3 with cataract, 165300
Possible mitochondrial disorder - nuclear genes v0.3 OPA1 Ivone Leong gene: OPA1 was added
gene: OPA1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: OPA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: OPA1 were set to Optic atrophy 1, 165500; Optic atrophy plus syndrome, 125250
Possible mitochondrial disorder - nuclear genes v0.3 NUBPL Ivone Leong gene: NUBPL was added
gene: NUBPL was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUBPL were set to Mitochondrial complex I deficiency, nuclear type 21, 618242
Possible mitochondrial disorder - nuclear genes v0.3 NSUN3 Ivone Leong gene: NSUN3 was added
gene: NSUN3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NSUN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSUN3 were set to 27356879
Phenotypes for gene: NSUN3 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 NFU1 Ivone Leong gene: NFU1 was added
gene: NFU1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NFU1 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, 605711
Possible mitochondrial disorder - nuclear genes v0.3 NFS1 Ivone Leong gene: NFS1 was added
gene: NFS1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NFS1 were set to 24498631
Phenotypes for gene: NFS1 were set to Infantile mitochondrial complex II/III deficiency
Possible mitochondrial disorder - nuclear genes v0.3 NDUFV3 Ivone Leong gene: NDUFV3 was added
gene: NDUFV3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFV3 was set to Unknown
Phenotypes for gene: NDUFV3 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 NDUFV2 Ivone Leong gene: NDUFV2 was added
gene: NDUFV2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, nuclear type 7, 618229
Possible mitochondrial disorder - nuclear genes v0.3 NDUFV1 Ivone Leong gene: NDUFV1 was added
gene: NDUFV1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV1 were set to Mitochondrial complex I deficiency, nuclear type 4, 618225
Possible mitochondrial disorder - nuclear genes v0.3 NDUFS8 Ivone Leong gene: NDUFS8 was added
gene: NDUFS8 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS8 were set to Mitochondrial complex I deficiency, nuclear type 2, 618222
Possible mitochondrial disorder - nuclear genes v0.3 NDUFS7 Ivone Leong gene: NDUFS7 was added
gene: NDUFS7 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS7 were set to Mitochondrial complex I deficiency, nuclear type 3, 618224
Possible mitochondrial disorder - nuclear genes v0.3 NDUFS6 Ivone Leong gene: NDUFS6 was added
gene: NDUFS6 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS6 were set to Mitochondrial complex I deficiency, nuclear type 9, 618232
Possible mitochondrial disorder - nuclear genes v0.3 NDUFS5 Ivone Leong gene: NDUFS5 was added
gene: NDUFS5 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFS5 was set to Unknown
Phenotypes for gene: NDUFS5 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 NDUFS4 Ivone Leong gene: NDUFS4 was added
gene: NDUFS4 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS4 were set to Mitochondrial complex I deficiency, nuclear type 1, 252010
Possible mitochondrial disorder - nuclear genes v0.3 NDUFS3 Ivone Leong gene: NDUFS3 was added
gene: NDUFS3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS3 were set to Mitochondrial complex I deficiency, nuclear type 8, 618230
Possible mitochondrial disorder - nuclear genes v0.3 NDUFS2 Ivone Leong gene: NDUFS2 was added
gene: NDUFS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS2 were set to Mitochondrial complex I deficiency, nuclear type 6, 618228
Possible mitochondrial disorder - nuclear genes v0.3 NDUFS1 Ivone Leong gene: NDUFS1 was added
gene: NDUFS1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS1 were set to Mitochondrial complex I deficiency, nuclear type 5, 618226
Possible mitochondrial disorder - nuclear genes v0.3 NDUFC2 Ivone Leong gene: NDUFC2 was added
gene: NDUFC2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFC2 was set to Unknown
Phenotypes for gene: NDUFC2 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 NDUFC1 Ivone Leong gene: NDUFC1 was added
gene: NDUFC1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFC1 was set to Unknown
Phenotypes for gene: NDUFC1 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 NDUFB9 Ivone Leong gene: NDUFB9 was added
gene: NDUFB9 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFB9 were set to ?Mitochondrial complex I deficiency, nuclear type 24, 618245
Possible mitochondrial disorder - nuclear genes v0.3 NDUFB8 Ivone Leong gene: NDUFB8 was added
gene: NDUFB8 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFB8 were set to Mitochondrial complex I deficiency, nuclear type 32, 618252
Possible mitochondrial disorder - nuclear genes v0.3 NDUFB7 Ivone Leong gene: NDUFB7 was added
gene: NDUFB7 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB7 was set to Unknown
Phenotypes for gene: NDUFB7 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 NDUFB6 Ivone Leong gene: NDUFB6 was added
gene: NDUFB6 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB6 was set to Unknown
Phenotypes for gene: NDUFB6 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 NDUFB5 Ivone Leong gene: NDUFB5 was added
gene: NDUFB5 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB5 was set to Unknown
Phenotypes for gene: NDUFB5 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 NDUFB4 Ivone Leong gene: NDUFB4 was added
gene: NDUFB4 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB4 was set to Unknown
Phenotypes for gene: NDUFB4 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.3 NDUFB3 Ivone Leong gene: NDUFB3 was added
gene: NDUFB3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFB3 were set to Mitochondrial complex I deficiency, nuclear type 25, 618246
Possible mitochondrial disorder - nuclear genes v0.2 ATP5J2 Ivone Leong Tag new-gene-name tag was added to gene: ATP5J2.
Possible mitochondrial disorder - nuclear genes v0.2 ATP5I Ivone Leong Tag new-gene-name tag was added to gene: ATP5I.
Possible mitochondrial disorder - nuclear genes v0.2 ATP5O Ivone Leong Tag new-gene-name tag was added to gene: ATP5O.
Possible mitochondrial disorder - nuclear genes v0.2 ATP5O Ivone Leong commented on gene: ATP5O
Possible mitochondrial disorder - nuclear genes v0.2 ATP5L2 Ivone Leong Tag new-gene-name tag was added to gene: ATP5L2.
Possible mitochondrial disorder - nuclear genes v0.2 ATP5L2 Ivone Leong commented on gene: ATP5L2
Possible mitochondrial disorder - nuclear genes v0.2 ATP5L Ivone Leong commented on gene: ATP5L
Possible mitochondrial disorder - nuclear genes v0.2 ATP5L Ivone Leong Tag new-gene-name tag was added to gene: ATP5L.
Possible mitochondrial disorder - nuclear genes v0.2 ATP5J2 Ivone Leong commented on gene: ATP5J2
Possible mitochondrial disorder - nuclear genes v0.2 ATP5J Ivone Leong commented on gene: ATP5J
Possible mitochondrial disorder - nuclear genes v0.2 ATP5J Ivone Leong Tag new-gene-name tag was added to gene: ATP5J.
Possible mitochondrial disorder - nuclear genes v0.2 ATP5I Ivone Leong commented on gene: ATP5I
Possible mitochondrial disorder - nuclear genes v0.2 ATP5H Ivone Leong Tag new-gene-name tag was added to gene: ATP5H.
Possible mitochondrial disorder - nuclear genes v0.2 ATP5H Ivone Leong commented on gene: ATP5H
Possible mitochondrial disorder - nuclear genes v0.2 ATP5G3 Ivone Leong commented on gene: ATP5G3
Possible mitochondrial disorder - nuclear genes v0.2 ATP5G3 Ivone Leong Tag new-gene-name tag was added to gene: ATP5G3.
Possible mitochondrial disorder - nuclear genes v0.2 ATP5G2 Ivone Leong Tag new-gene-name tag was added to gene: ATP5G2.
Possible mitochondrial disorder - nuclear genes v0.2 ATP5G2 Ivone Leong commented on gene: ATP5G2
Possible mitochondrial disorder - nuclear genes v0.2 ATP5G1 Ivone Leong Tag new-gene-name tag was added to gene: ATP5G1.
Possible mitochondrial disorder - nuclear genes v0.2 ATP5G1 Ivone Leong commented on gene: ATP5G1
Possible mitochondrial disorder - nuclear genes v0.2 ATP5F1 Ivone Leong Tag new-gene-name tag was added to gene: ATP5F1.
Possible mitochondrial disorder - nuclear genes v0.2 ATP5F1 Ivone Leong commented on gene: ATP5F1
Possible mitochondrial disorder - nuclear genes v0.2 ATP5E Ivone Leong Tag new-gene-name tag was added to gene: ATP5E.
Possible mitochondrial disorder - nuclear genes v0.2 ATP5E Ivone Leong commented on gene: ATP5E
Possible mitochondrial disorder - nuclear genes v0.2 ATP5D Ivone Leong Tag new-gene-name tag was added to gene: ATP5D.
Possible mitochondrial disorder - nuclear genes v0.2 ATP5D Ivone Leong commented on gene: ATP5D
Possible mitochondrial disorder - nuclear genes v0.2 ATP5C1 Ivone Leong Tag new-gene-name tag was added to gene: ATP5C1.
Possible mitochondrial disorder - nuclear genes v0.2 ATP5C1 Ivone Leong commented on gene: ATP5C1
Possible mitochondrial disorder - nuclear genes v0.2 ATP5B Ivone Leong Tag new-gene-name tag was added to gene: ATP5B.
Possible mitochondrial disorder - nuclear genes v0.2 ATP5B Ivone Leong commented on gene: ATP5B
Possible mitochondrial disorder - nuclear genes v0.2 ATP5A1 Ivone Leong Tag new-gene-name tag was added to gene: ATP5A1.
Possible mitochondrial disorder - nuclear genes v0.2 ATP5A1 Ivone Leong commented on gene: ATP5A1
Possible mitochondrial disorder - nuclear genes v0.2 C19orf70 Ivone Leong commented on gene: C19orf70
Possible mitochondrial disorder - nuclear genes v0.2 C19orf70 Ivone Leong Tag new-gene-name tag was added to gene: C19orf70.
Possible mitochondrial disorder - nuclear genes v0.2 NDUFB2 Ivone Leong gene: NDUFB2 was added
gene: NDUFB2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB2 was set to Unknown
Phenotypes for gene: NDUFB2 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 NDUFB11 Ivone Leong gene: NDUFB11 was added
gene: NDUFB11 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB11 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: NDUFB11 were set to ?Mitochondrial complex I deficiency, nuclear type 30, 301021; Linear skin defects with multiple congenital anomalies 3, 300952
Possible mitochondrial disorder - nuclear genes v0.2 NDUFB10 Ivone Leong gene: NDUFB10 was added
gene: NDUFB10 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB10 were set to 28040730
Phenotypes for gene: NDUFB10 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 NDUFB1 Ivone Leong gene: NDUFB1 was added
gene: NDUFB1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFB1 was set to Unknown
Phenotypes for gene: NDUFB1 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 NDUFAF8 Ivone Leong gene: NDUFAF8 was added
gene: NDUFAF8 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF8 were set to 27499296
Phenotypes for gene: NDUFAF8 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 NDUFAF7 Ivone Leong gene: NDUFAF7 was added
gene: NDUFAF7 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFAF7 was set to Unknown
Phenotypes for gene: NDUFAF7 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 NDUFAF6 Ivone Leong gene: NDUFAF6 was added
gene: NDUFAF6 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF6 were set to Mitochondrial complex I deficiency, nuclear type 17, 612392
Possible mitochondrial disorder - nuclear genes v0.2 NDUFAF5 Ivone Leong gene: NDUFAF5 was added
gene: NDUFAF5 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex I deficiency, nuclear type 16, 616238
Possible mitochondrial disorder - nuclear genes v0.2 NDUFAF4 Ivone Leong gene: NDUFAF4 was added
gene: NDUFAF4 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFAF4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF4 were set to Mitochondrial complex I deficiency, nuclear type 15, 618237
Possible mitochondrial disorder - nuclear genes v0.2 NDUFAF3 Ivone Leong gene: NDUFAF3 was added
gene: NDUFAF3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFAF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF3 were set to Mitochondrial complex I deficiency, nuclear type 18, 618240
Possible mitochondrial disorder - nuclear genes v0.2 NDUFAF2 Ivone Leong gene: NDUFAF2 was added
gene: NDUFAF2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF2 were set to Mitochondrial complex I deficiency, nuclear type 10, 618233
Possible mitochondrial disorder - nuclear genes v0.2 NDUFAF1 Ivone Leong gene: NDUFAF1 was added
gene: NDUFAF1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF1 were set to Mitochondrial complex I deficiency, nuclear type 11, 618234
Possible mitochondrial disorder - nuclear genes v0.2 NDUFAB1 Ivone Leong gene: NDUFAB1 was added
gene: NDUFAB1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFAB1 was set to Unknown
Phenotypes for gene: NDUFAB1 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 NDUFA9 Ivone Leong gene: NDUFA9 was added
gene: NDUFA9 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA9 were set to Mitochondrial complex I deficiency, nuclear type 26, 618247
Possible mitochondrial disorder - nuclear genes v0.2 NDUFA8 Ivone Leong gene: NDUFA8 was added
gene: NDUFA8 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA8 was set to Unknown
Phenotypes for gene: NDUFA8 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 NDUFA7 Ivone Leong gene: NDUFA7 was added
gene: NDUFA7 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA7 was set to Unknown
Phenotypes for gene: NDUFA7 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 NDUFA6 Ivone Leong gene: NDUFA6 was added
gene: NDUFA6 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA6 were set to Mitochondrial complex I deficiency, nuclear type 33, 618253
Possible mitochondrial disorder - nuclear genes v0.2 NDUFA5 Ivone Leong gene: NDUFA5 was added
gene: NDUFA5 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA5 was set to Unknown
Phenotypes for gene: NDUFA5 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 NDUFA4 Ivone Leong gene: NDUFA4 was added
gene: NDUFA4 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA4 were set to 23746447; 29636225
Phenotypes for gene: NDUFA4 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 NDUFA3 Ivone Leong gene: NDUFA3 was added
gene: NDUFA3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA3 was set to Unknown
Phenotypes for gene: NDUFA3 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 NDUFA2 Ivone Leong gene: NDUFA2 was added
gene: NDUFA2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA2 were set to Mitochondrial complex I deficiency, nuclear type 13, 618235
Possible mitochondrial disorder - nuclear genes v0.2 NDUFA13 Ivone Leong gene: NDUFA13 was added
gene: NDUFA13 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA13 were set to ?Mitochondrial complex I deficiency, nuclear type 28, 618249
Possible mitochondrial disorder - nuclear genes v0.2 NDUFA12 Ivone Leong gene: NDUFA12 was added
gene: NDUFA12 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA12 were set to ?Mitochondrial complex I deficiency, nuclear type 23, 618244
Possible mitochondrial disorder - nuclear genes v0.2 NDUFA11 Ivone Leong gene: NDUFA11 was added
gene: NDUFA11 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA11 were set to Mitochondrial complex I deficiency, nuclear type 14, 618236
Possible mitochondrial disorder - nuclear genes v0.2 NDUFA10 Ivone Leong gene: NDUFA10 was added
gene: NDUFA10 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA10 were set to Mitochondrial complex I deficiency, nuclear type 22, 618243
Possible mitochondrial disorder - nuclear genes v0.2 NDUFA1 Ivone Leong gene: NDUFA1 was added
gene: NDUFA1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: NDUFA1 were set to Mitochondrial complex I deficiency, nuclear type 12, 301020
Possible mitochondrial disorder - nuclear genes v0.2 NAXE Ivone Leong gene: NAXE was added
gene: NAXE was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAXE were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186
Possible mitochondrial disorder - nuclear genes v0.2 NARS2 Ivone Leong gene: NARS2 was added
gene: NARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NARS2 were set to Combined oxidative phosphorylation deficiency 24, 616239
Possible mitochondrial disorder - nuclear genes v0.2 NADK2 Ivone Leong gene: NADK2 was added
gene: NADK2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NADK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NADK2 were set to 29388319
Phenotypes for gene: NADK2 were set to ?2,4-dienoyl-CoA reductase deficiency, 616034
Possible mitochondrial disorder - nuclear genes v0.2 MTPAP Ivone Leong gene: MTPAP was added
gene: MTPAP was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTPAP were set to 27959697; 27391121
Phenotypes for gene: MTPAP were set to ?Spastic ataxia 4, autosomal recessive, 613672
Possible mitochondrial disorder - nuclear genes v0.2 MTO1 Ivone Leong gene: MTO1 was added
gene: MTO1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTO1 were set to Combined oxidative phosphorylation deficiency 10, 614702
Possible mitochondrial disorder - nuclear genes v0.2 MTFMT Ivone Leong gene: MTFMT was added
gene: MTFMT was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTFMT were set to 22499348
Phenotypes for gene: MTFMT were set to Combined oxidative phosphorylation deficiency 15, 614947; Mitochondrial complex I deficiency, nuclear type 27, 618248
Possible mitochondrial disorder - nuclear genes v0.2 MSTO1 Ivone Leong gene: MSTO1 was added
gene: MSTO1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MSTO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia, 617675
Possible mitochondrial disorder - nuclear genes v0.2 MRPS7 Ivone Leong gene: MRPS7 was added
gene: MRPS7 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MRPS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPS7 were set to ?Combined oxidative phosphorylation deficiency 34, 617872
Possible mitochondrial disorder - nuclear genes v0.2 MRPS34 Ivone Leong gene: MRPS34 was added
gene: MRPS34 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MRPS34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPS34 were set to Combined oxidative phosphorylation deficiency 32, 617664
Possible mitochondrial disorder - nuclear genes v0.2 MRPS23 Ivone Leong gene: MRPS23 was added
gene: MRPS23 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MRPS23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS23 were set to 26741492
Phenotypes for gene: MRPS23 were set to Hepatic disease
Possible mitochondrial disorder - nuclear genes v0.2 MRPS22 Ivone Leong gene: MRPS22 was added
gene: MRPS22 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MRPS22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPS22 were set to Combined oxidative phosphorylation deficiency 5, 611719
Possible mitochondrial disorder - nuclear genes v0.2 MRPS2 Ivone Leong gene: MRPS2 was added
gene: MRPS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MRPS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS2 were set to 29576219
Phenotypes for gene: MRPS2 were set to Combined oxidative phosphorylation deficiency 36, 617950
Possible mitochondrial disorder - nuclear genes v0.2 MRPS16 Ivone Leong gene: MRPS16 was added
gene: MRPS16 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MRPS16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS16 were set to 28749478; 15505824
Phenotypes for gene: MRPS16 were set to Combined oxidative phosphorylation deficiency 2, 610498
Possible mitochondrial disorder - nuclear genes v0.2 MRPS14 Ivone Leong gene: MRPS14 was added
gene: MRPS14 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
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 No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 MRPL44 Ivone Leong gene: MRPL44 was added
gene: MRPL44 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MRPL44 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPL44 were set to 25797485; 23315540
Phenotypes for gene: MRPL44 were set to ?Combined oxidative phosphorylation deficiency 16, 615395
Possible mitochondrial disorder - nuclear genes v0.2 MRPL3 Ivone Leong gene: MRPL3 was added
gene: MRPL3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MRPL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPL3 were set to 21786366; 27815843
Phenotypes for gene: MRPL3 were set to Combined oxidative phosphorylation deficiency 9, 614582
Possible mitochondrial disorder - nuclear genes v0.2 MRPL12 Ivone Leong gene: MRPL12 was added
gene: MRPL12 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MRPL12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPL12 were set to 23603806
Phenotypes for gene: MRPL12 were set to Growth retardation and neurological deterioration
Possible mitochondrial disorder - nuclear genes v0.2 MRM2 Ivone Leong gene: MRM2 was added
gene: MRM2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,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 No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 MPV17 Ivone Leong gene: MPV17 was added
gene: MPV17 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810
Possible mitochondrial disorder - nuclear genes v0.2 MPC1 Ivone Leong gene: MPC1 was added
gene: MPC1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPC1 were set to 22628558
Phenotypes for gene: MPC1 were set to Lactic acidosis and hyperpyruvatemia
Possible mitochondrial disorder - nuclear genes v0.2 MIPEP Ivone Leong gene: MIPEP was added
gene: MIPEP was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
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, 617228
Possible mitochondrial disorder - nuclear genes v0.2 MICU1 Ivone Leong gene: MICU1 was added
gene: MICU1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MICU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MICU1 were set to Myopathy with extrapyramidal signs, 615673
Possible mitochondrial disorder - nuclear genes v0.2 C19orf70 Ivone Leong gene: C19orf70 was added
gene: C19orf70 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: C19orf70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C19orf70 were set to 29618761; 27485409; 27623147
Phenotypes for gene: C19orf70 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 MGME1 Ivone Leong gene: MGME1 was added
gene: MGME1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MGME1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MGME1 were set to 23313956
Phenotypes for gene: MGME1 were set to Mitochondrial DNA depletion syndrome 11, 615084
Possible mitochondrial disorder - nuclear genes v0.2 MFN2 Ivone Leong gene: MFN2 was added
gene: MFN2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MFN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MFN2 were set to 22556188; 22189565
Phenotypes for gene: MFN2 were set to Mitochondrial DNA depletion syndrome; Optic atrophy plus
Possible mitochondrial disorder - nuclear genes v0.2 MFF Ivone Leong gene: MFF was added
gene: MFF was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MFF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFF were set to Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086
Possible mitochondrial disorder - nuclear genes v0.2 MECR Ivone Leong gene: MECR was added
gene: MECR was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MECR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MECR were set to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282
Possible mitochondrial disorder - nuclear genes v0.2 MDH2 Ivone Leong gene: MDH2 was added
gene: MDH2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MDH2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MDH2 were set to Epileptic encephalopathy, early infantile, 51, 617339
Possible mitochondrial disorder - nuclear genes v0.2 MARS2 Ivone Leong gene: MARS2 was added
gene: MARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive, 611390; ?Combined oxidative phosphorylation deficiency 25, 616430
Possible mitochondrial disorder - nuclear genes v0.2 LYRM7 Ivone Leong gene: LYRM7 was added
gene: LYRM7 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LYRM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LYRM7 were set to 29353736
Phenotypes for gene: LYRM7 were set to Mitochondrial complex III deficiency, nuclear type 8, 615838
Possible mitochondrial disorder - nuclear genes v0.2 LYRM4 Ivone Leong gene: LYRM4 was added
gene: LYRM4 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LYRM4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LYRM4 were set to 23814038
Phenotypes for gene: LYRM4 were set to ?Combined oxidative phosphorylation deficiency 19, 615595
Possible mitochondrial disorder - nuclear genes v0.2 LRPPRC Ivone Leong gene: LRPPRC was added
gene: LRPPRC was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRPPRC were set to Leigh syndrome, French-Canadian type, 220111
Possible mitochondrial disorder - nuclear genes v0.2 LONP1 Ivone Leong gene: LONP1 was added
gene: LONP1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LONP1 were set to CODAS syndrome, 600373
Possible mitochondrial disorder - nuclear genes v0.2 LIPT2 Ivone Leong gene: LIPT2 was added
gene: LIPT2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LIPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPT2 were set to 28757203; 28803783
Phenotypes for gene: LIPT2 were set to ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES, 617668
Possible mitochondrial disorder - nuclear genes v0.2 LIPT1 Ivone Leong gene: LIPT1 was added
gene: LIPT1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LIPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPT1 were set to LIPOYLTRANSFERASE 1 DEFICIENCY, 616299
Possible mitochondrial disorder - nuclear genes v0.2 LIAS Ivone Leong gene: LIAS was added
gene: LIAS was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LIAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIAS were set to HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, 614462
Possible mitochondrial disorder - nuclear genes v0.2 LARS2 Ivone Leong gene: LARS2 was added
gene: LARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS2 were set to ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021; Perrault syndrome 4, 615300
Possible mitochondrial disorder - nuclear genes v0.2 KARS Ivone Leong gene: KARS was added
gene: KARS was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KARS were set to Deafness, autosomal recessive 89 613916; ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641
Possible mitochondrial disorder - nuclear genes v0.2 ISCU Ivone Leong gene: ISCU was added
gene: ISCU was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ISCU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISCU were set to Myopathy with lactic acidosis, hereditary, 255125
Possible mitochondrial disorder - nuclear genes v0.2 ISCA2 Ivone Leong gene: ISCA2 was added
gene: ISCA2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISCA2 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, 616370
Possible mitochondrial disorder - nuclear genes v0.2 ISCA1 Ivone Leong gene: ISCA1 was added
gene: ISCA1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCA1 were set to 28356563; 29767723
Phenotypes for gene: ISCA1 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613
Possible mitochondrial disorder - nuclear genes v0.2 IDH3B Ivone Leong gene: IDH3B was added
gene: IDH3B was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: IDH3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IDH3B were set to Retinitis pigmentosa 46, 612572
Possible mitochondrial disorder - nuclear genes v0.2 IDH3A Ivone Leong gene: IDH3A was added
gene: IDH3A was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: IDH3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IDH3A were set to 28412069; 28058510
Phenotypes for gene: IDH3A were set to Infantile encephalopathy; Retinitis pigmentosa with macular pseudocoloboma
Possible mitochondrial disorder - nuclear genes v0.2 IBA57 Ivone Leong gene: IBA57 was added
gene: IBA57 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IBA57 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, 615330
Possible mitochondrial disorder - nuclear genes v0.2 IARS2 Ivone Leong gene: IARS2 was added
gene: IARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IARS2 were set to ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007
Possible mitochondrial disorder - nuclear genes v0.2 HTRA2 Ivone Leong gene: HTRA2 was added
gene: HTRA2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria, type VIII, 617248
Possible mitochondrial disorder - nuclear genes v0.2 HSPD1 Ivone Leong gene: HSPD1 was added
gene: HSPD1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HSPD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HSPD1 were set to Spastic paraplegia 13, autosomal dominant 605280; Leukodystrophy, hypomyelinating, 4, 612233
Possible mitochondrial disorder - nuclear genes v0.2 HSD17B10 Ivone Leong gene: HSD17B10 was added
gene: HSD17B10 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: HSD17B10 were set to HSD10 mitochondrial disease, 300438
Possible mitochondrial disorder - nuclear genes v0.2 HLCS Ivone Leong gene: HLCS was added
gene: HLCS was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HLCS were set to Holocarboxylase synthetase deficiency, 253270
Possible mitochondrial disorder - nuclear genes v0.2 HIBCH Ivone Leong gene: HIBCH was added
gene: HIBCH was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HIBCH were set to 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY, 250620
Possible mitochondrial disorder - nuclear genes v0.2 HCCS Ivone Leong gene: HCCS was added
gene: HCCS was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HCCS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: HCCS were set to Linear skin defects with multiple congenital anomalies 1, 309801
Possible mitochondrial disorder - nuclear genes v0.2 HARS2 Ivone Leong gene: HARS2 was added
gene: HARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HARS2 were set to ?Perrault syndrome 2, 614926
Possible mitochondrial disorder - nuclear genes v0.2 GTPBP3 Ivone Leong gene: GTPBP3 was added
gene: GTPBP3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GTPBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GTPBP3 were set to Combined oxidative phosphorylation deficiency 23, 61698
Possible mitochondrial disorder - nuclear genes v0.2 GLRX5 Ivone Leong gene: GLRX5 was added
gene: GLRX5 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GLRX5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLRX5 were set to SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, 616859; ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, 616860
Possible mitochondrial disorder - nuclear genes v0.2 GFM2 Ivone Leong gene: GFM2 was added
gene: GFM2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GFM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GFM2 were set to 29075935
Phenotypes for gene: GFM2 were set to Early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits
Possible mitochondrial disorder - nuclear genes v0.2 GFM1 Ivone Leong gene: GFM1 was added
gene: GFM1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFM1 were set to Combined oxidative phosphorylation deficiency 1, 609060
Possible mitochondrial disorder - nuclear genes v0.2 GFER Ivone Leong gene: GFER was added
gene: GFER was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFER were set to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076
Possible mitochondrial disorder - nuclear genes v0.2 GDAP1 Ivone Leong gene: GDAP1 was added
gene: GDAP1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GDAP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GDAP1 were set to Charcot-Marie-Tooth disease, axonal, type 2K, 607831; Charcot-Marie-Tooth disease, recessive intermediate, A, 608340; Charcot-Marie-Tooth disease, type 4A, 214400; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706
Possible mitochondrial disorder - nuclear genes v0.2 GATC Ivone Leong gene: GATC was added
gene: GATC was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,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 disorder
Possible mitochondrial disorder - nuclear genes v0.2 GATB Ivone Leong gene: GATB was added
gene: GATB was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,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 disorder
Possible mitochondrial disorder - nuclear genes v0.2 GARS Ivone Leong gene: GARS was added
gene: GARS was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GARS were set to Neuropathy, distal hereditary motor, type VA, 600794; Charcot-Marie-Tooth disease, type 2D, 601472
Possible mitochondrial disorder - nuclear genes v0.2 FOXRED1 Ivone Leong gene: FOXRED1 was added
gene: FOXRED1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FOXRED1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXRED1 were set to Mitochondrial complex I deficiency, nuclear type 19, 618241
Possible mitochondrial disorder - nuclear genes v0.2 FLAD1 Ivone Leong gene: FLAD1 was added
gene: FLAD1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLAD1 were set to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100
Possible mitochondrial disorder - nuclear genes v0.2 FH Ivone Leong gene: FH was added
gene: FH was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FH were set to Leiomyomatosis and renal cell cancer, 150800; Fumarase deficiency, 606812
Possible mitochondrial disorder - nuclear genes v0.2 FDXR Ivone Leong gene: FDXR was added
gene: FDXR was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FDXR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FDXR were set to Auditory neuropathy and optic atrophy, 617717
Possible mitochondrial disorder - nuclear genes v0.2 FDX2 Ivone Leong gene: FDX2 was added
gene: FDX2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FDX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FDX2 were set to 30010796; 28803783; 24281368
Phenotypes for gene: FDX2 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 FBXL4 Ivone Leong gene: FBXL4 was added
gene: FBXL4 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBXL4 were set to 25868664
Phenotypes for gene: FBXL4 were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
Possible mitochondrial disorder - nuclear genes v0.2 FASTKD2 Ivone Leong gene: FASTKD2 was added
gene: FASTKD2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FASTKD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FASTKD2 were set to 28499982
Phenotypes for gene: FASTKD2 were set to ?Mitochondrial complex IV deficiency, 220110
Possible mitochondrial disorder - nuclear genes v0.2 FARS2 Ivone Leong gene: FARS2 was added
gene: FARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FARS2 were set to Combined oxidative phosphorylation deficiency 14, 614946; Spastic paraplegia 77, autosomal recessive, 617046
Possible mitochondrial disorder - nuclear genes v0.2 ETHE1 Ivone Leong gene: ETHE1 was added
gene: ETHE1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy, 602473
Possible mitochondrial disorder - nuclear genes v0.2 ETFDH Ivone Leong gene: ETFDH was added
gene: ETFDH was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC, 231680
Possible mitochondrial disorder - nuclear genes v0.2 ERAL1 Ivone Leong gene: ERAL1 was added
gene: ERAL1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ERAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERAL1 were set to Perrault syndrome 6, 617565
Possible mitochondrial disorder - nuclear genes v0.2 ELAC2 Ivone Leong gene: ELAC2 was added
gene: ELAC2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ELAC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELAC2 were set to Combined oxidative phosphorylation deficiency 17, 615440
Possible mitochondrial disorder - nuclear genes v0.2 ECSIT Ivone Leong gene: ECSIT was added
gene: ECSIT was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ECSIT was set to Unknown
Phenotypes for gene: ECSIT were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 ECHS1 Ivone Leong gene: ECHS1 was added
gene: ECHS1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ECHS1 were set to MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY, 616277
Possible mitochondrial disorder - nuclear genes v0.2 EARS2 Ivone Leong gene: EARS2 was added
gene: EARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EARS2 were set to Combined oxidative phosphorylation deficiency 12, 614924
Possible mitochondrial disorder - nuclear genes v0.2 DNM2 Ivone Leong gene: DNM2 was added
gene: DNM2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNM2 were set to 25492887, 25492887 (abstract)
Phenotypes for gene: DNM2 were set to Charcot-Marie-Tooth disease, dominant intermediate B, 606482; Charcot-Marie-Tooth disease, axonal type 2M, 606482; Centronuclear myopathy 1, 160150
Possible mitochondrial disorder - nuclear genes v0.2 DNM1L Ivone Leong gene: DNM1L was added
gene: DNM1L was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DNM1L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DNM1L were set to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388; Optic atrophy 5, 610708
Possible mitochondrial disorder - nuclear genes v0.2 DNAJC19 Ivone Leong gene: DNAJC19 was added
gene: DNAJC19 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V, 610198
Possible mitochondrial disorder - nuclear genes v0.2 DNA2 Ivone Leong gene: DNA2 was added
gene: DNA2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNA2 were set to 23352259
Phenotypes for gene: DNA2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156
Possible mitochondrial disorder - nuclear genes v0.2 DLD Ivone Leong gene: DLD was added
gene: DLD was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLD were set to DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, 246900
Possible mitochondrial disorder - nuclear genes v0.2 DLAT Ivone Leong gene: DLAT was added
gene: DLAT was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLAT were set to PYRUVATE DEHYDROGENASE E2 DEFICIENCY, 245348
Possible mitochondrial disorder - nuclear genes v0.2 DGUOK Ivone Leong gene: DGUOK was added
gene: DGUOK was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070
Possible mitochondrial disorder - nuclear genes v0.2 DARS2 Ivone Leong gene: DARS2 was added
gene: DARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS2 were set to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Possible mitochondrial disorder - nuclear genes v0.2 CYC1 Ivone Leong gene: CYC1 was added
gene: CYC1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CYC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYC1 were set to Mitochondrial complex III deficiency, nuclear type 6, 615453
Possible mitochondrial disorder - nuclear genes v0.2 COX8A Ivone Leong gene: COX8A was added
gene: COX8A was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX8A were set to ?Mitochondrial complex IV deficiency, 220110
Possible mitochondrial disorder - nuclear genes v0.2 COX7C Ivone Leong gene: COX7C was added
gene: COX7C was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX7C was set to Unknown
Phenotypes for gene: COX7C were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 COX7B Ivone Leong gene: COX7B was added
gene: COX7B was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX7B was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: COX7B were set to Linear skin defects with multiple congenital anomalies 2, 300887
Possible mitochondrial disorder - nuclear genes v0.2 COX7A1 Ivone Leong gene: COX7A1 was added
gene: COX7A1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX7A1 was set to Unknown
Phenotypes for gene: COX7A1 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 COX6C Ivone Leong gene: COX6C was added
gene: COX6C was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX6C was set to Unknown
Phenotypes for gene: COX6C were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 COX6B2 Ivone Leong gene: COX6B2 was added
gene: COX6B2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX6B2 was set to Unknown
Phenotypes for gene: COX6B2 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 COX6B1 Ivone Leong gene: COX6B1 was added
gene: COX6B1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX6B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX6B1 were set to Mitochondrial complex IV deficiency, 220110
Possible mitochondrial disorder - nuclear genes v0.2 COX6A2 Ivone Leong gene: COX6A2 was added
gene: COX6A2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX6A2 was set to Unknown
Phenotypes for gene: COX6A2 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 COX6A1 Ivone Leong gene: COX6A1 was added
gene: COX6A1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX6A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX6A1 were set to Charcot-Marie-Tooth disease, recessive intermediate D, 616039
Possible mitochondrial disorder - nuclear genes v0.2 COX5B Ivone Leong gene: COX5B was added
gene: COX5B was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX5B was set to Unknown
Phenotypes for gene: COX5B were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 COX5A Ivone Leong gene: COX5A was added
gene: COX5A was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX5A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX5A were set to 28247525
Phenotypes for gene: COX5A were set to Pulmonary arterial hypertension, lactic acidemia, and failure to thrive
Possible mitochondrial disorder - nuclear genes v0.2 COX4I2 Ivone Leong gene: COX4I2 was added
gene: COX4I2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX4I2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX4I2 were set to 19268275
Phenotypes for gene: COX4I2 were set to Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714
Possible mitochondrial disorder - nuclear genes v0.2 COX4I1 Ivone Leong gene: COX4I1 was added
gene: COX4I1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX4I1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX4I1 were set to 28766551
Phenotypes for gene: COX4I1 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 COX20 Ivone Leong gene: COX20 was added
gene: COX20 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX20 were set to Mitochondrial complex IV deficiency, 220110
Possible mitochondrial disorder - nuclear genes v0.2 COX19 Ivone Leong gene: COX19 was added
gene: COX19 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX19 was set to Unknown
Phenotypes for gene: COX19 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 COX18 Ivone Leong gene: COX18 was added
gene: COX18 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX18 was set to Unknown
Phenotypes for gene: COX18 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 COX17 Ivone Leong gene: COX17 was added
gene: COX17 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX17 was set to Unknown
Phenotypes for gene: COX17 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 COX16 Ivone Leong gene: COX16 was added
gene: COX16 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX16 was set to Unknown
Phenotypes for gene: COX16 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 COX15 Ivone Leong gene: COX15 was added
gene: COX15 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX15 were set to Leigh syndrome due to cytochrome c oxidase deficiency, 256000; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119
Possible mitochondrial disorder - nuclear genes v0.2 COX14 Ivone Leong gene: COX14 was added
gene: COX14 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX14 were set to ?Mitochondrial complex IV deficiency, 220110
Possible mitochondrial disorder - nuclear genes v0.2 COX11 Ivone Leong gene: COX11 was added
gene: COX11 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX11 was set to Unknown
Phenotypes for gene: COX11 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 COX10 Ivone Leong gene: COX10 was added
gene: COX10 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX10 were set to Mitochondrial complex IV deficiency, 220110
Possible mitochondrial disorder - nuclear genes v0.2 COQ9 Ivone Leong gene: COQ9 was added
gene: COQ9 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ9 were set to Coenzyme Q10 deficiency, primary, 5, 614654
Possible mitochondrial disorder - nuclear genes v0.2 COQ8B Ivone Leong gene: COQ8B was added
gene: COQ8B was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ8B were set to Nephrotic syndrome, type 9, 615573
Possible mitochondrial disorder - nuclear genes v0.2 COQ8A Ivone Leong gene: COQ8A was added
gene: COQ8A was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4, 612016
Possible mitochondrial disorder - nuclear genes v0.2 COQ6 Ivone Leong gene: COQ6 was added
gene: COQ6 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COQ6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ6 were set to Coenzyme Q10 deficiency, primary, 6, 614650
Possible mitochondrial disorder - nuclear genes v0.2 COQ4 Ivone Leong gene: COQ4 was added
gene: COQ4 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ4 were set to Coenzyme Q10 deficiency, primary, 7, 616276
Possible mitochondrial disorder - nuclear genes v0.2 COQ2 Ivone Leong gene: COQ2 was added
gene: COQ2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ2 were set to Coenzyme Q10 deficiency, primary, 1, 607426
Possible mitochondrial disorder - nuclear genes v0.2 COA7 Ivone Leong gene: COA7 was added
gene: COA7 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COA7 were set to ?Mitochondrial complex IV deficiency, 220110
Possible mitochondrial disorder - nuclear genes v0.2 COA6 Ivone Leong gene: COA6 was added
gene: COA6 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COA6 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 616501
Possible mitochondrial disorder - nuclear genes v0.2 COA5 Ivone Leong gene: COA5 was added
gene: COA5 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COA5 were set to ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500
Possible mitochondrial disorder - nuclear genes v0.2 COA4 Ivone Leong gene: COA4 was added
gene: COA4 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COA4 was set to Unknown
Phenotypes for gene: COA4 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 COA3 Ivone Leong gene: COA3 was added
gene: COA3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA3 were set to 25604084
Phenotypes for gene: COA3 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 COA1 Ivone Leong gene: COA1 was added
gene: COA1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COA1 was set to Unknown
Phenotypes for gene: COA1 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 CLPP Ivone Leong gene: CLPP was added
gene: CLPP was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLPP were set to Perrault syndrome 3, 614129
Possible mitochondrial disorder - nuclear genes v0.2 CLPB Ivone Leong gene: CLPB was added
gene: CLPB was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLPB were set to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271
Possible mitochondrial disorder - nuclear genes v0.2 CHCHD10 Ivone Leong gene: CHCHD10 was added
gene: CHCHD10 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CHCHD10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHCHD10 were set to Spinal muscular atrophy, Jokela type 615048; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911; ?Myopathy, isolated mitochondrial, autosomal dominant, 616209
Possible mitochondrial disorder - nuclear genes v0.2 CEP89 Ivone Leong gene: CEP89 was added
gene: CEP89 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CEP89 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP89 were set to 23575228
Phenotypes for gene: CEP89 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 CARS2 Ivone Leong gene: CARS2 was added
gene: CARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CARS2 were set to Combined oxidative phosphorylation deficiency 27, 616672
Possible mitochondrial disorder - nuclear genes v0.2 CA5A Ivone Leong gene: CA5A was added
gene: CA5A was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
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, 615751
Possible mitochondrial disorder - nuclear genes v0.2 C1QBP Ivone Leong gene: C1QBP was added
gene: C1QBP was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C1QBP were set to Combined oxidative phosphorylation deficiency 33, 617713
Possible mitochondrial disorder - nuclear genes v0.2 C12orf65 Ivone Leong gene: C12orf65 was added
gene: C12orf65 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C12orf65 were set to Combined oxidative phosphorylation deficiency 7, 613559; Spastic paraplegia 55, autosomal recessive, 615035
Possible mitochondrial disorder - nuclear genes v0.2 BTD Ivone Leong gene: BTD was added
gene: BTD was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BTD were set to Biotinidase deficiency, 253260
Possible mitochondrial disorder - nuclear genes v0.2 BOLA3 Ivone Leong gene: BOLA3 was added
gene: BOLA3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BOLA3 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, 614299
Possible mitochondrial disorder - nuclear genes v0.2 BCS1L Ivone Leong gene: BCS1L was added
gene: BCS1L was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCS1L were set to Mitochondrial complex III deficiency, nuclear type 1, 124000; Leigh syndrome, 256000
Possible mitochondrial disorder - nuclear genes v0.2 ATPAF2 Ivone Leong gene: ATPAF2 was added
gene: ATPAF2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATPAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATPAF2 were set to ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
Possible mitochondrial disorder - nuclear genes v0.2 ATPAF1 Ivone Leong gene: ATPAF1 was added
gene: ATPAF1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATPAF1 was set to Unknown
Phenotypes for gene: ATPAF1 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 ATP5O Ivone Leong gene: ATP5O was added
gene: ATP5O was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5O was set to Unknown
Phenotypes for gene: ATP5O were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 ATP5J Ivone Leong gene: ATP5J was added
gene: ATP5J was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5J was set to Unknown
Phenotypes for gene: ATP5J were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 ATP5H Ivone Leong gene: ATP5H was added
gene: ATP5H was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5H was set to Unknown
Phenotypes for gene: ATP5H were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 ATP5F1 Ivone Leong gene: ATP5F1 was added
gene: ATP5F1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5F1 was set to Unknown
Phenotypes for gene: ATP5F1 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 ATP5L2 Ivone Leong gene: ATP5L2 was added
gene: ATP5L2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5L2 was set to Unknown
Phenotypes for gene: ATP5L2 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 ATP5L Ivone Leong gene: ATP5L was added
gene: ATP5L was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5L was set to Unknown
Phenotypes for gene: ATP5L were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 ATP5J2 Ivone Leong gene: ATP5J2 was added
gene: ATP5J2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5J2 was set to Unknown
Phenotypes for gene: ATP5J2 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 ATP5I Ivone Leong gene: ATP5I was added
gene: ATP5I was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5I was set to Unknown
Phenotypes for gene: ATP5I were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 ATP5G3 Ivone Leong gene: ATP5G3 was added
gene: ATP5G3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5G3 was set to Unknown
Phenotypes for gene: ATP5G3 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 ATP5G2 Ivone Leong gene: ATP5G2 was added
gene: ATP5G2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5G2 was set to Unknown
Phenotypes for gene: ATP5G2 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 ATP5G1 Ivone Leong gene: ATP5G1 was added
gene: ATP5G1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5G1 was set to Unknown
Phenotypes for gene: ATP5G1 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 ATP5E Ivone Leong gene: ATP5E was added
gene: ATP5E was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5E was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP5E were set to ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053
Possible mitochondrial disorder - nuclear genes v0.2 ATP5D Ivone Leong gene: ATP5D was added
gene: ATP5D was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP5D were set to Mitochondrial complex V (ATP synthase) deficiency, 618120
Possible mitochondrial disorder - nuclear genes v0.2 ATP5C1 Ivone Leong gene: ATP5C1 was added
gene: ATP5C1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5C1 was set to Unknown
Phenotypes for gene: ATP5C1 were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 ATP5B Ivone Leong gene: ATP5B was added
gene: ATP5B was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5B was set to Unknown
Phenotypes for gene: ATP5B were set to No OMIM phenotype
Possible mitochondrial disorder - nuclear genes v0.2 ATP5A1 Ivone Leong gene: ATP5A1 was added
gene: ATP5A1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP5A1 were set to ?Combined oxidative phosphorylation deficiency 22, 616045; ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, 615228
Possible mitochondrial disorder - nuclear genes v0.2 ATAD3A Ivone Leong gene: ATAD3A was added
gene: ATAD3A was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ATAD3A were set to Harel-Yoon syndrome, 617183
Possible mitochondrial disorder - nuclear genes v0.2 APTX Ivone Leong gene: APTX was added
gene: APTX was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APTX were set to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920
Possible mitochondrial disorder - nuclear genes v0.2 APOPT1 Ivone Leong gene: APOPT1 was added
gene: APOPT1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APOPT1 were set to Mitochondrial complex IV deficiency, 220110
Possible mitochondrial disorder - nuclear genes v0.2 ANO10 Ivone Leong gene: ANO10 was added
gene: ANO10 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ANO10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANO10 were set to Spinocerebellar ataxia, autosomal recessive 10, 613728
Possible mitochondrial disorder - nuclear genes v0.2 AIFM1 Ivone Leong gene: AIFM1 was added
gene: AIFM1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AIFM1 were set to Combined oxidative phosphorylation deficiency 6, 300816
Possible mitochondrial disorder - nuclear genes v0.2 AGK Ivone Leong gene: AGK was added
gene: AGK was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGK were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 10 (CARDIOMYOPATHIC TYPE), 212350
Possible mitochondrial disorder - nuclear genes v0.2 AFG3L2 Ivone Leong gene: AFG3L2 was added
gene: AFG3L2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: AFG3L2 were set to 25420100
Phenotypes for gene: AFG3L2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions
Possible mitochondrial disorder - nuclear genes v0.2 ACO2 Ivone Leong gene: ACO2 was added
gene: ACO2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACO2 were set to Infantile cerebellar-retinal degeneration, 614559
Possible mitochondrial disorder - nuclear genes v0.2 ACAD9 Ivone Leong gene: ACAD9 was added
gene: ACAD9 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency, nuclear type 20, 611126
Possible mitochondrial disorder - nuclear genes v0.2 ABCB7 Ivone Leong gene: ABCB7 was added
gene: ABCB7 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCB7 were set to Anemia, sideroblastic, with ataxia, 301310
Possible mitochondrial disorder - nuclear genes v0.2 ABAT Ivone Leong gene: ABAT was added
gene: ABAT was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABAT were set to 25738457
Phenotypes for gene: ABAT were set to Mitochondrial DNA depletion syndrome
Possible mitochondrial disorder - nuclear genes v0.2 AARS2 Ivone Leong gene: AARS2 was added
gene: AARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AARS2 were set to Combined oxidative phosphorylation deficiency 8, 614096; Leukoencephalopathy, progressive, with ovarian failure, 615889
Possible mitochondrial disorder - nuclear genes v0.0 Ellen McDonagh Added Panel Possible mitochondrial disorder - nuclear genes
Set panel types to: GMS Rare Disease