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Mitochondrial disorders v4.169 XRCC4 Arina Puzriakova Mode of inheritance for gene: XRCC4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.169 XRCC4 Arina Puzriakova Phenotypes for gene: XRCC4 were changed from Short stature, microcephaly, and endocrine dysfunction 616541 to Short stature, microcephaly, and endocrine dysfunction, OMIM:616541
Mitochondrial disorders v4.167 G6PC Arina Puzriakova Phenotypes for gene: G6PC were changed from Glycogen storage disease Ia to Glycogen storage disease Ia, OMIM:232200
Mitochondrial disorders v4.166 ATP5J2 Arina Puzriakova Classified gene: ATP5J2 as Red List (low evidence)
Mitochondrial disorders v4.166 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.
Mitochondrial disorders v4.166 ATP5J2 Arina Puzriakova Gene: atp5j2 has been classified as Red List (Low Evidence).
Mitochondrial disorders v4.165 CYCS Arina Puzriakova Phenotypes for gene: CYCS were changed from Thrombocytopenia 4, 612004 to Thrombocytopenia 4, OMIM:612004
Mitochondrial disorders v4.164 CYCS Arina Puzriakova Tag Q1_24_promote_green tag was added to gene: CYCS.
Mitochondrial disorders v4.164 CYCS Arina Puzriakova Classified gene: CYCS as Amber List (moderate evidence)
Mitochondrial disorders v4.164 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.
Mitochondrial disorders v4.164 CYCS Arina Puzriakova Gene: cycs has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.163 SPATA5 Arina Puzriakova Tag Q1_24_promote_green tag was added to gene: SPATA5.
Mitochondrial disorders v4.163 SPATA5 Arina Puzriakova Publications for gene: SPATA5 were set to 27246907; 29343804; 26299366; 28293831
Mitochondrial disorders v4.162 SPATA5 Arina Puzriakova Classified gene: SPATA5 as Amber List (moderate evidence)
Mitochondrial disorders v4.162 SPATA5 Arina Puzriakova Added comment: Comment on list classification: There are sufficient cases to promote this gene to Green at the next GMS panel update. Patients display a phenotype that resembles a mitochondrial disorder and functional studies on patient-derived cells have demonstrated an impact on mitochondrial function, further supporting inclusion of SPATA5 on this panel.
Mitochondrial disorders v4.162 SPATA5 Arina Puzriakova Gene: spata5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.161 SPATA5 Arina Puzriakova Phenotypes for gene: SPATA5 were changed from Epilepsy, hearing loss, and mental retardation syndrome 616577 to Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577
Mitochondrial disorders v4.160 ALAS2 Arina Puzriakova Phenotypes for gene: ALAS2 were changed from Anemia, sideroblastic, 1 300751; Protoporphyria, erythropoietic, X-linked 300752 to Anemia, sideroblastic, 1, OMIM:300751; Protoporphyria, erythropoietic, X-linked, OMIM:300752
Mitochondrial disorders v4.159 MSTO1 Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance should be changed to BIALLELIC, autosomal or pseudoautosomal.
Mitochondrial disorders v4.159 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
Mitochondrial disorders v4.158 MSTO1 Sarah Leigh Tag Q1_24_MOI tag was added to gene: MSTO1.
Mitochondrial disorders v4.158 MSTO1 Sarah Leigh Publications for gene: MSTO1 were set to 28554942; 28544275; 29339779
Mitochondrial disorders v4.157 MSTO1 Sarah Leigh edited their review of gene: MSTO1: Added comment: Gal et al (2017) reported a family with autosomal dominant mitochondrial myopathy and ataxia caused by a monoallelic MSTO1 variant (PMID: 28554942). Subsequently, the variant involved (rs762798018) has been reclassified as a variant of unknown significance, this is because Gal et al (2023)(PMID:37431817) have retracted their claim that there is a direct link between the variant and the patients' myopathy and ataxia phenotypes.
There are no further reports of monoallelic Myopathy, mitochondrial, and ataxia (OMIM:617675).; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.157 HSD17B10 Arina Puzriakova Phenotypes for gene: HSD17B10 were changed from HSD10 mitochondrial disease 300438 to HSD10 mitochondrial disease, OMIM:300438
Mitochondrial disorders v4.156 SLC25A24 Achchuthan Shanmugasundram Tag Q3_23_MOI was removed from gene: SLC25A24.
Mitochondrial disorders v4.156 SLC25A24 Achchuthan Shanmugasundram Mode of inheritance for gene: SLC25A24 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disorders v4.155 CRAT Achchuthan Shanmugasundram Deleted their comment
Mitochondrial disorders v4.155 CRAT Achchuthan Shanmugasundram Classified gene: CRAT as Amber List (moderate evidence)
Mitochondrial disorders v4.155 CRAT Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is one case each with NBIA and Leigh syndrome. Hence, this gene can be promoted to amber with current evidence.
Mitochondrial disorders v4.155 CRAT Achchuthan Shanmugasundram Gene: crat has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.154 CRAT Achchuthan Shanmugasundram Classified gene: CRAT as Amber List (moderate evidence)
Mitochondrial disorders v4.154 CRAT Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is one case with NBIA and Leigh syndrome. Hence, this gene can be promoted to amber with current evidence.
Mitochondrial disorders v4.154 CRAT Achchuthan Shanmugasundram Gene: crat has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.153 CRAT Achchuthan Shanmugasundram edited their review of gene: CRAT: Changed phenotypes to: ?Neurodegeneration with brain iron accumulation 8, OMIM:617917, Leigh syndrome, MONDO:0009723
Mitochondrial disorders v4.153 CRAT Achchuthan Shanmugasundram Phenotypes for gene: CRAT were changed from ?Neurodegeneration with brain iron accumulation 8, OMIM:617917; Leigh syndrome, OMIM:MONDO:0009723 to ?Neurodegeneration with brain iron accumulation 8, OMIM:617917; Leigh syndrome, MONDO:0009723
Mitochondrial disorders v4.152 CRAT Achchuthan Shanmugasundram Phenotypes for gene: CRAT were changed from ?Neurodegeneration with brain iron accumulation 8 617917 to ?Neurodegeneration with brain iron accumulation 8, OMIM:617917; Leigh syndrome, OMIM:MONDO:0009723
Mitochondrial disorders v4.151 CRAT Achchuthan Shanmugasundram Publications for gene: CRAT were set to 29395073; 29903433; 31448845
Mitochondrial disorders v4.151 CRAT Achchuthan Shanmugasundram Publications for gene: CRAT were set to 29903433; 29395073
Mitochondrial disorders v4.150 CRAT Achchuthan Shanmugasundram Mode of inheritance for gene: CRAT was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.149 CRAT Achchuthan Shanmugasundram reviewed gene: CRAT: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Neurodegeneration with brain iron accumulation 8, OMIM:617917, Leigh syndrome, OMIM:MONDO:0009723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.149 OXA1L Achchuthan Shanmugasundram Deleted their comment
Mitochondrial disorders v4.149 OXA1L Achchuthan Shanmugasundram Classified gene: OXA1L as Amber List (moderate evidence)
Mitochondrial disorders v4.149 OXA1L Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is a single family and functional evidence available in support of the association of OXA1L to this panel. Hence, this gene should be promoted to amber.
Mitochondrial disorders v4.149 OXA1L Achchuthan Shanmugasundram Gene: oxa1l has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.148 OXA1L Achchuthan Shanmugasundram Classified gene: OXA1L as Amber List (moderate evidence)
Mitochondrial disorders v4.148 OXA1L Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is a single family and functional evidence available in support of the association of OXA1L to this panel. Hence, this gene should be promoted to amber.
Mitochondrial disorders v4.148 OXA1L Achchuthan Shanmugasundram Gene: oxa1l has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.147 OXA1L Achchuthan Shanmugasundram Publications for gene: OXA1L were set to
Mitochondrial disorders v4.146 OXA1L Achchuthan Shanmugasundram reviewed gene: OXA1L: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.146 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
Mitochondrial disorders v4.146 COX5A Sarah Leigh Classified gene: COX5A as Amber List (moderate evidence)
Mitochondrial disorders v4.146 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.
Mitochondrial disorders v4.146 COX5A Sarah Leigh Gene: cox5a has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.145 COX5A Sarah Leigh Tag Q4_23_promote_green tag was added to gene: COX5A.
Mitochondrial disorders v4.145 COX5A Sarah Leigh Phenotypes for gene: COX5A were changed from No OMIM phenotype to ?Mitochondrial complex IV deficiency, nuclear type 20, OMIM:619064; Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
Mitochondrial disorders v4.144 COX5A Sarah Leigh Publications for gene: COX5A were set to 28247525
Mitochondrial disorders v4.143 COX11 Sarah Leigh Classified gene: COX11 as Amber List (moderate evidence)
Mitochondrial disorders v4.143 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.
Mitochondrial disorders v4.143 COX11 Sarah Leigh Gene: cox11 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.142 COX11 Sarah Leigh Classified gene: COX11 as Amber List (moderate evidence)
Mitochondrial disorders v4.142 COX11 Sarah Leigh Gene: cox11 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.141 COX11 Sarah Leigh Tag Q4_23_promote_green tag was added to gene: COX11.
Mitochondrial disorders v4.141 COX11 Sarah Leigh edited their review of gene: COX11: Added comment: COX11 variants have been associated with Mitochondrial complex IV deficiency, nuclear type 23 (OMIM:620275), but not with a phenotype in Gen2Phen. At least four COX11 variants have been reported in three unrelated cases of OMIM:620275 (PMIDs: 36030551;38068960), together with supportive functional studies in patient's fibroblasts and Saccharomyces cerevisiae.; Changed rating: GREEN
Mitochondrial disorders v4.141 COX11 Sarah Leigh Mode of inheritance for gene: COX11 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.140 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
Mitochondrial disorders v4.139 COX11 Sarah Leigh Publications for gene: COX11 were set to 36030551; 38068960
Mitochondrial disorders v4.138 COX11 Sarah Leigh Publications for gene: COX11 were set to 36030551
Mitochondrial disorders v4.137 COX11 Sarah Leigh Publications for gene: COX11 were set to
Mitochondrial disorders v4.136 COX11 Sarah Leigh Mode of inheritance for gene: COX11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.135 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
Mitochondrial disorders v4.134 HADHB Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: HADHB.
Mitochondrial disorders v4.134 HADHB Achchuthan Shanmugasundram Classified gene: HADHB as Amber List (moderate evidence)
Mitochondrial disorders v4.134 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.
Mitochondrial disorders v4.134 HADHB Achchuthan Shanmugasundram Gene: hadhb has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.133 HADHB Achchuthan Shanmugasundram Phenotypes for gene: HADHB were changed from Trifunctional protein deficiency, 609015 to Mitochondrial trifunctional protein deficiency 2, OMIM:620300
Mitochondrial disorders v4.132 HADHB Achchuthan Shanmugasundram Publications for gene: HADHB were set to
Mitochondrial disorders v4.131 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
Mitochondrial disorders v4.131 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
Mitochondrial disorders v4.130 ATP5E Sarah Leigh Tag Q4_23_promote_green tag was added to gene: ATP5E.
Mitochondrial disorders v4.130 ATP5E Sarah Leigh Publications for gene: ATP5E were set to 20566710
Mitochondrial disorders v4.129 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
Mitochondrial disorders v4.128 ATP5E Sarah Leigh Classified gene: ATP5E as Amber List (moderate evidence)
Mitochondrial disorders v4.128 ATP5E Sarah Leigh Gene: atp5e has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.127 ATP5E Sarah Leigh edited their review of gene: ATP5E: Added comment: 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.; Changed rating: GREEN; Changed publications to: 27604308, 34954817, 20566710
Mitochondrial disorders v4.127 SLC25A36 Achchuthan Shanmugasundram Classified gene: SLC25A36 as Amber List (moderate evidence)
Mitochondrial disorders v4.127 SLC25A36 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there is sufficient evidence available for the association of this gene with green rating in the next GMS review.
Mitochondrial disorders v4.127 SLC25A36 Achchuthan Shanmugasundram Gene: slc25a36 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.126 SLC25A36 Achchuthan Shanmugasundram Phenotypes for gene: SLC25A36 were changed from Hyperinsulinemic hypoglycemia, familial, 8 to Hyperinsulinemic hypoglycemia, familial, 8, OMIM:620211
Mitochondrial disorders v4.125 SLC25A36 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: SLC25A36.
Tag Q4_23_NHS_review tag was added to gene: SLC25A36.
Mitochondrial disorders v4.125 SLC25A36 Achchuthan Shanmugasundram reviewed gene: SLC25A36: Rating: GREEN; Mode of pathogenicity: None; Publications: 34576089, 34971397, 36695547; Phenotypes: Hyperinsulinemic hypoglycemia, familial, 8, OMIM:620211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.125 PCK2 Achchuthan Shanmugasundram Classified gene: PCK2 as Amber List (moderate evidence)
Mitochondrial disorders v4.125 PCK2 Achchuthan Shanmugasundram Gene: pck2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.124 PCK2 Achchuthan Shanmugasundram Phenotypes for gene: PCK2 were changed from PEPCK deficiency, mitochondrial, OMIM:261650; Abnormal gait; peripheral neuropathy to PEPCK deficiency, mitochondrial, OMIM:261650; Abnormal gait; peripheral neuropathy
Mitochondrial disorders v4.124 PCK2 Achchuthan Shanmugasundram Phenotypes for gene: PCK2 were changed from Abnormal gait; peripheral neuropathy to PEPCK deficiency, mitochondrial, OMIM:261650; Abnormal gait; peripheral neuropathy
Mitochondrial disorders v4.123 PCK2 Achchuthan Shanmugasundram reviewed gene: PCK2: Rating: AMBER; Mode of pathogenicity: None; Publications: 36845668; Phenotypes: PEPCK deficiency, mitochondrial, OMIM:261650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.123 MRPS28 Achchuthan Shanmugasundram Classified gene: MRPS28 as Red List (low evidence)
Mitochondrial disorders v4.123 MRPS28 Achchuthan Shanmugasundram Gene: mrps28 has been classified as Red List (Low Evidence).
Mitochondrial disorders v4.122 MRPS28 Achchuthan Shanmugasundram Phenotypes for gene: MRPS28 were changed from ?Combined oxidative phosphorylation deficiency 47 to ?Combined oxidative phosphorylation deficiency 47, OMIM:618958
Mitochondrial disorders v4.121 MRPS28 Achchuthan Shanmugasundram changed review comment from: PMID:30566640 reported a single patient with intrauterine growth retardation, craniofacial dysmorphism and developmental delay and identified with a seemingly homozygous missense variant c.356A>G/ p.Lys119Arg. The variant was present in the mother in a heterozygous state, but not in the father who likely carried a large deletion spanning exon 2 and parts of introns 1 and 2 that could account for the apparent homozygosity of the patient.; to: PMID:30566640 reported a single patient with intrauterine growth retardation, craniofacial dysmorphism and developmental delay and identified with biallelic MRPS28 variants.
Mitochondrial disorders v4.121 MRPS28 Achchuthan Shanmugasundram reviewed gene: MRPS28: Rating: RED; Mode of pathogenicity: None; Publications: 30566640; Phenotypes: ?Combined oxidative phosphorylation deficiency 47, OMIM:618958; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.121 MRPS25 Achchuthan Shanmugasundram Classified gene: MRPS25 as Red List (low evidence)
Mitochondrial disorders v4.121 MRPS25 Achchuthan Shanmugasundram Gene: mrps25 has been classified as Red List (Low Evidence).
Mitochondrial disorders v4.120 MRPS25 Achchuthan Shanmugasundram Phenotypes for gene: MRPS25 were changed from ?Combined oxidative phosphorylation deficiency 50 to ?Combined oxidative phosphorylation deficiency 50, OMIM:619025
Mitochondrial disorders v4.119 MRPS25 Achchuthan Shanmugasundram reviewed gene: MRPS25: Rating: RED; Mode of pathogenicity: None; Publications: 31039582; Phenotypes: ?Combined oxidative phosphorylation deficiency 50, OMIM:619025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.119 MIEF2 Achchuthan Shanmugasundram Phenotypes for gene: MIEF2 were changed from ?Combined oxidative phosphorylation deficiency 49 to ?Combined oxidative phosphorylation deficiency 49, OMIM:619024
Mitochondrial disorders v4.118 MIEF2 Achchuthan Shanmugasundram Classified gene: MIEF2 as Red List (low evidence)
Mitochondrial disorders v4.118 MIEF2 Achchuthan Shanmugasundram Gene: mief2 has been classified as Red List (Low Evidence).
Mitochondrial disorders v4.117 MIEF2 Achchuthan Shanmugasundram reviewed gene: MIEF2: Rating: RED; Mode of pathogenicity: None; Publications: 29361167; Phenotypes: ?Combined oxidative phosphorylation deficiency 49, OMIM:619024; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.117 TEFM Achchuthan Shanmugasundram Deleted their comment
Mitochondrial disorders v4.117 TEFM Achchuthan Shanmugasundram Classified gene: TEFM as Amber List (moderate evidence)
Mitochondrial disorders v4.117 TEFM Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there is sufficient evidence available (five unrelated families) for the association of this gene with green rating in the next GMS review.
Mitochondrial disorders v4.117 TEFM Achchuthan Shanmugasundram Gene: tefm has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.117 TEFM Achchuthan Shanmugasundram Classified gene: TEFM as Amber List (moderate evidence)
Mitochondrial disorders v4.117 TEFM Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there is sufficient evidence available (five unrelated families) for the association of this gene with green rating in the next GMS review.
Mitochondrial disorders v4.117 TEFM Achchuthan Shanmugasundram Gene: tefm has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.116 TEFM Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: TEFM.
Tag Q4_23_NHS_review tag was added to gene: TEFM.
Mitochondrial disorders v4.116 TEFM Achchuthan Shanmugasundram reviewed gene: TEFM: Rating: GREEN; Mode of pathogenicity: None; Publications: 36823193; Phenotypes: Combined oxidative phosphorylation deficiency 58, OMIM:620451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.116 TEFM Achchuthan Shanmugasundram Phenotypes for gene: TEFM were changed from Combined oxidative phosphorylation deficiency 58 to Combined oxidative phosphorylation deficiency 58, OMIM:620451
Mitochondrial disorders v4.115 TAMM41 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: TAMM41.
Tag Q4_23_NHS_review tag was added to gene: TAMM41.
Mitochondrial disorders v4.115 TAMM41 Achchuthan Shanmugasundram Classified gene: TAMM41 as Amber List (moderate evidence)
Mitochondrial disorders v4.115 TAMM41 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there is sufficient evidence available (three unrelated cases and functional studies) for the promotion of this gene to green rating in the next GMS review.
Mitochondrial disorders v4.115 TAMM41 Achchuthan Shanmugasundram Gene: tamm41 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.114 TAMM41 Achchuthan Shanmugasundram Phenotypes for gene: TAMM41 were changed from Combined oxidative phosphorylation deficiency 56 to Combined oxidative phosphorylation deficiency 56, OMIM:620139
Mitochondrial disorders v4.113 TAMM41 Achchuthan Shanmugasundram reviewed gene: TAMM41: Rating: GREEN; Mode of pathogenicity: None; Publications: 35321494; Phenotypes: Combined oxidative phosphorylation deficiency 56, OMIM:620139; Mode of inheritance: None
Mitochondrial disorders v4.113 PCK2 Hannah Knight gene: PCK2 was added
gene: PCK2 was added to Mitochondrial disorders. Sources: Literature
Mode of inheritance for gene: PCK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCK2 were set to 36845668
Phenotypes for gene: PCK2 were set to Abnormal gait; peripheral neuropathy
Review for gene: PCK2 was set to AMBER
Added comment: PMID: 36845668 (2023) identified three patients in two families with a common phenotype and likely pathogenic variants in PCK2:
A 3-year-old girl with ataxia and weakness, who was found to be compound heterozygous for p.Ser23Ter and p.Pro170Leu
Two siblings with abnormal gait and weakness who were found to both be homozygous for p.Arg193Ter. Unaffected sibling did not carry the variant
Sources: Literature
Mitochondrial disorders v4.113 SLC25A36 Hannah Knight gene: SLC25A36 was added
gene: SLC25A36 was added to Mitochondrial disorders. Sources: Literature
Mode of inheritance for gene: SLC25A36 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A36 were set to 34576089; 34971397; 36695547
Phenotypes for gene: SLC25A36 were set to Hyperinsulinemic hypoglycemia, familial, 8
Review for gene: SLC25A36 was set to GREEN
Added comment: More than three cases reported in past three years
PMID: 34576089 (2021) - first case, a 12-year-old patient with hypothyroidism, hyperinsulinism, hyperammonemia, chronical obstipation, short stature, along with language and general developmental delay. Homozygous frameshift variant identified c.803dupT, p.Ser269llefs*35
PMID: 34971397 (2022) - two siblings with homozygous splice site variant
PMID: 36695547 (2023) - four individuals of two Bedouin Israeli related families - same homozygous splice site variant identified
Sources: Literature
Mitochondrial disorders v4.113 MRPS28 Hannah Knight gene: MRPS28 was added
gene: MRPS28 was added to Mitochondrial disorders. Sources: Literature
Mode of inheritance for gene: MRPS28 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS28 were set to 30566640
Phenotypes for gene: MRPS28 were set to ?Combined oxidative phosphorylation deficiency 47
Review for gene: MRPS28 was set to AMBER
Added comment: PMID: 30566640 (2019) reported a 30-year-old man with a multisystemic mitochondrial disorder and compound heterozygous variants in the MRPS28 gene. Patient fibroblasts showed decreased MRPS28 protein levels compared to controls. There were variable deficiencies of complexes I, III, IV, and V activities and complex assembly associated with decreased mitochondrial respiration activity in vitro. Additional studies of patient fibroblasts showed impaired assembly of the small mitoribosomal subunit (bS1m, encoded by MRPS28), decreased levels of 12S rRNA, and impaired mitochondrial translation. These defects could be rescued by expression of wildtype MRPS28
Sources: Literature
Mitochondrial disorders v4.113 MRPS25 Hannah Knight gene: MRPS25 was added
gene: MRPS25 was added to Mitochondrial disorders. Sources: Literature
Mode of inheritance for gene: MRPS25 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS25 were set to 31039582
Phenotypes for gene: MRPS25 were set to ?Combined oxidative phosphorylation deficiency 50
Review for gene: MRPS25 was set to AMBER
Added comment: PMID: 31039582 (2019) reported a 25-year-old man, born of unrelated parents, with a mitochondrial encephalomyopathy and a homozygous missense variant in the MRPS25 gene (P72L). Patient fibroblasts showed decreased protein levels of MRPS25, about one-tenth of controls. Levels of other polypeptides of the 28S ribosomal subunit were also decreased, suggesting that the mutation adversely affected assembly or stability of the 28S subunit. Further in vitro studies of patient fibroblasts showed impaired mitochondrial translation and decreased protein levels of respiratory chain complexes I, III, and IV. Expression of wildtype MRPS25 in patient fibroblasts resulted in partial restoration of OXPHOS protein levels. The findings suggested that MRPS25 is required for mitochondrial protein synthesis, and that this defect causes decreased levels of mitochondrial respiratory chain subunits and impaired mitochondrial translation.
Sources: Literature
Mitochondrial disorders v4.113 MIEF2 Hannah Knight gene: MIEF2 was added
gene: MIEF2 was added to Mitochondrial disorders. Sources: Literature
Mode of inheritance for gene: MIEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MIEF2 were set to 29361167
Phenotypes for gene: MIEF2 were set to ?Combined oxidative phosphorylation deficiency 49
Review for gene: MIEF2 was set to AMBER
Added comment: PMID: 29361167 (2018) reported a 15-year-old boy, born of consanguineous Jewish parents, with combined oxidative phosphorylation deficiency-49 and a homozygous nonsense variant in the MIEF2 gene (Q92X). Patient skeletal muscle and fibroblasts showed a combined decrease in mitochondrial respiratory chain enzymes, particularly complexes I and IV, elongated mitochondria with abnormal cristae, decreased mitochondrial fission, and increased fusion events. The cellular phenotype could be rescued by expression of wildtype MIEF2. The findings were consistent with a defect in mitochondrial dynamics
Sources: Literature
Mitochondrial disorders v4.113 TAMM41 Hannah Knight gene: TAMM41 was added
gene: TAMM41 was added to Mitochondrial disorders. Sources: Literature
Mode of inheritance for gene: TAMM41 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAMM41 were set to 35321494
Phenotypes for gene: TAMM41 were set to Combined oxidative phosphorylation deficiency 56
Review for gene: TAMM41 was set to GREEN
Added comment: PMID: 35321494 (2022) report three unrelated individuals with mitochondrial disease and compound heterozygous variants in this gene + functional studies
Sources: Literature
Mitochondrial disorders v4.113 TEFM Hannah Knight gene: TEFM was added
gene: TEFM was added to Mitochondrial disorders. Sources: Literature
Mode of inheritance for gene: TEFM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TEFM were set to 36823193
Phenotypes for gene: TEFM were set to Combined oxidative phosphorylation deficiency 58
Review for gene: TEFM was set to GREEN
Added comment: PMID: 36823193 (2023) report seven TEFM variants (four missense, two frameshift and one in-frame 2-amino acid deletion) in seven individuals from five unrelated families who present with mitochondrial respiratory chain deficiency and a wide range of infantile or childhood-onset neurological and neuromuscular symptoms, due to abnormal mitochondrial transcription. Zebrafish model as well
Sources: Literature
Mitochondrial disorders v4.113 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".
Mitochondrial disorders v4.113 HADHB Dmitrijs Rots reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35403730; Phenotypes: episodic myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.113 HADHB Dmitrijs Rots Deleted their review
Mitochondrial disorders v4.113 HADHB Dmitrijs Rots reviewed gene: HADHB: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 35403730; Phenotypes: episodic myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.113 ATP5B Sarah Leigh Classified gene: ATP5B as Amber List (moderate evidence)
Mitochondrial disorders v4.113 ATP5B Sarah Leigh Gene: atp5b has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.112 ATP5B Sarah Leigh reviewed gene: ATP5B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v4.112 ATP5B Sarah Leigh Penetrance for gene ATP5B was set from to Complete
Mitochondrial disorders v4.111 ATP5B Sarah Leigh Mode of inheritance for gene: ATP5B was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disorders v4.110 ATP5B Sarah Leigh Phenotypes for gene: ATP5B were changed from No OMIM phenotype to ?Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, OMIM: 620085
Mitochondrial disorders v4.109 ATP5B Sarah Leigh Publications for gene: ATP5B were set to
Mitochondrial disorders v4.108 PTCD3 Sarah Leigh Tag Q4_23_promote_green tag was added to gene: PTCD3.
Mitochondrial disorders v4.108 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
Mitochondrial disorders v4.108 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
Mitochondrial disorders v4.107 PTCD3 Sarah Leigh Classified gene: PTCD3 as Amber List (moderate evidence)
Mitochondrial disorders v4.107 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.
Mitochondrial disorders v4.107 PTCD3 Sarah Leigh Gene: ptcd3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.106 PTCD3 Sarah Leigh Phenotypes for gene: PTCD3 were changed from No OMIM phenotype to ?Combined oxidative phosphorylation deficiency 51, OMIM:619057
Mitochondrial disorders v4.105 PTCD3 Sarah Leigh Publications for gene: PTCD3 were set to 30607703
Mitochondrial disorders v4.104 MRM2 Sarah Leigh Publications for gene: MRM2 were set to 28973171
Mitochondrial disorders v4.103 MRM2 Sarah Leigh Tag Q4_23_promote_green tag was added to gene: MRM2.
Mitochondrial disorders v4.103 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
Mitochondrial disorders v4.103 MRM2 Sarah Leigh Classified gene: MRM2 as Amber List (moderate evidence)
Mitochondrial disorders v4.103 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.
Mitochondrial disorders v4.103 MRM2 Sarah Leigh Gene: mrm2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.99 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND6.
Mitochondrial disorders v4.99 MT-ND5 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND5.
Mitochondrial disorders v4.99 MT-ND4L Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND4L.
Mitochondrial disorders v4.99 MT-ND4 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND4.
Mitochondrial disorders v4.99 MT-ND3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND3.
Mitochondrial disorders v4.99 MT-ND2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND2.
Mitochondrial disorders v4.99 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND1.
Mitochondrial disorders v4.99 MT-CYB Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CYB.
Mitochondrial disorders v4.99 MT-CO3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO3.
Mitochondrial disorders v4.99 MT-CO2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO2.
Mitochondrial disorders v4.99 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO1.
Mitochondrial disorders v4.99 MT-ATP8 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP8.
Mitochondrial disorders v4.99 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Mitochondrial disorders v4.99 SPG7 Eleanor Williams commented on gene: SPG7
Mitochondrial disorders v4.99 SPG7 Eleanor Williams Tag Q2_23_MOI was removed from gene: SPG7.
Mitochondrial disorders v4.99 COX16 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: COX16.
Mitochondrial disorders v4.99 COX16 Achchuthan Shanmugasundram commented on gene: COX16
Mitochondrial disorders v4.99 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.
Mitochondrial disorders v4.99 C2orf69 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: C2orf69.
Mitochondrial disorders v4.99 C2orf69 Achchuthan Shanmugasundram commented on gene: C2orf69
Mitochondrial disorders v4.99 SPATA5 Achchuthan Shanmugasundram commented on gene: SPATA5
Mitochondrial disorders v4.99 SLC52A3 Sarah Leigh Classified gene: SLC52A3 as Amber List (moderate evidence)
Mitochondrial disorders v4.99 SLC52A3 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Mitochondrial disorders v4.99 SLC52A3 Sarah Leigh Gene: slc52a3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.98 SLC52A3 Sarah Leigh Tag Q4_23_promote_green tag was added to gene: SLC52A3.
Tag Q4_23_MOI tag was added to gene: SLC52A3.
Mitochondrial disorders v4.98 SLC52A3 Sarah Leigh Phenotypes for gene: SLC52A3 were changed from Brown-Vialetto-Van Laere syndrome 1, 211530 to Brown-Vialetto-Van Laere syndrome 1, OMIM:211530; Brown-Vialetto-van Laere syndrome 1, MONDO:0024537
Mitochondrial disorders v4.97 SLC52A3 Sarah Leigh edited their review of gene: SLC52A3: Changed rating: GREEN
Mitochondrial disorders v4.97 SLC52A3 Sarah Leigh edited their review of gene: SLC52A3: Added comment: PMIDs 29053833 & 29193829 report a total of 11 unrelated cases of Brown-Vialetto-Van Laere syndrome 1 (OMIM:211530) carrying a total of 14 SLC52A3 variants. Functional studies and histological observations allow the authors to conclude that the resultant riboflavin transporter deficiency associated with the SLC52A3 variants, causes a mitochondrial dysfunction. Furthermore, the loss of the SLC52A2/SLC52A3 homologue in Drosophila melanogaster resulted in abnormal mitochondrial membrane potential, respiratory chain activity and morphology.
Nine of the SLC52A3 variants occur as either homozygotes or as compound heterozygotes in PMID: 29053833, a further five variants are seen as heterozygotes. The authors comment that the heterozygous individuals did not differ substantially in phenotype including age of presentation from the rest of the cohort of mutation-positive cases.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v4.97 SLC52A2 Sarah Leigh changed review comment from: PMIDs 29053833 & 29193829 characterize six unrelated cases of Brown-Vialetto-Van Laere syndrome 2 (OMIM:614707) carrying a total of SLC52A2 variants. Functional studies and histological observations allow the authors to conclude that the resultant riboflavin transporter deficiency associated with the SLC52A2 variants, causes a mitochondrial dysfunction. Furthermore, the loss of the SLC52A2/SLC52A3 homologue in Drosophila melanogaster resulted in abnormal mitochondrial membrane potential, respiratory chain activity and morphology.; to: PMIDs 29053833 & 29193829 characterize six unrelated cases of Brown-Vialetto-Van Laere syndrome 2 (OMIM:614707) carrying a total of nine SLC52A2 variants. Functional studies and histological observations allow the authors to conclude that the resultant riboflavin transporter deficiency associated with the SLC52A2 variants, causes a mitochondrial dysfunction. Furthermore, the loss of the SLC52A2/SLC52A3 homologue in Drosophila melanogaster resulted in abnormal mitochondrial membrane potential, respiratory chain activity and morphology.
Mitochondrial disorders v4.97 SLC52A2 Sarah Leigh changed review comment from: PMIDs 29053833 & 29193829 characterize six unrelated cases of Brown-Vialetto-Van Laere syndrome 2 (OMIM:614707) carrying a total of SLC52A2 variants. Functional studies and histological observations allow the authors to conclude that the resultant riboflavin transporter deficiency associated with the SLC52A2 variants, causes a mitochondrial dysfunction.; to: PMIDs 29053833 & 29193829 characterize six unrelated cases of Brown-Vialetto-Van Laere syndrome 2 (OMIM:614707) carrying a total of SLC52A2 variants. Functional studies and histological observations allow the authors to conclude that the resultant riboflavin transporter deficiency associated with the SLC52A2 variants, causes a mitochondrial dysfunction. Furthermore, the loss of the SLC52A2/SLC52A3 homologue in Drosophila melanogaster resulted in abnormal mitochondrial membrane potential, respiratory chain activity and morphology.
Mitochondrial disorders v4.97 SLC52A3 Sarah Leigh Publications for gene: SLC52A3 were set to
Mitochondrial disorders v4.96 SLC52A2 Sarah Leigh Tag Q4_23_promote_green tag was added to gene: SLC52A2.
Mitochondrial disorders v4.96 SLC52A2 Sarah Leigh edited their review of gene: SLC52A2: Added comment: PMIDs 29053833 & 29193829 characterize six unrelated cases of Brown-Vialetto-Van Laere syndrome 2 (OMIM:614707) carrying a total of SLC52A2 variants. Functional studies and histological observations allow the authors to conclude that the resultant riboflavin transporter deficiency associated with the SLC52A2 variants, causes a mitochondrial dysfunction.; Changed rating: GREEN
Mitochondrial disorders v4.96 SLC52A2 Sarah Leigh Classified gene: SLC52A2 as Amber List (moderate evidence)
Mitochondrial disorders v4.96 SLC52A2 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Mitochondrial disorders v4.96 SLC52A2 Sarah Leigh Gene: slc52a2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.95 LETM1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: LETM1.
Mitochondrial disorders v4.95 IDH3A Sarah Leigh Tag Q2_23_promote_green was removed from gene: IDH3A.
Mitochondrial disorders v4.95 IDH3A Sarah Leigh Deleted their comment
Mitochondrial disorders v4.95 CRLS1 Sarah Leigh Tag Q1_23_promote_green was removed from gene: CRLS1.
Mitochondrial disorders v4.95 C2orf69 Sarah Leigh Tag Q2_23_promote_green was removed from gene: C2orf69.
Mitochondrial disorders v4.95 ATP5O Sarah Leigh Tag Q2_23_promote_green was removed from gene: ATP5O.
Mitochondrial disorders v4.95 OGDH Sarah Leigh Tag Q2_23_promote_green was removed from gene: OGDH.
Mitochondrial disorders v4.95 ETFB Sarah Leigh Tag Q2_23_promote_green was removed from gene: ETFB.
Mitochondrial disorders v4.95 ETFA Sarah Leigh Tag Q2_23_promote_green was removed from gene: ETFA.
Mitochondrial disorders v4.95 COASY Sarah Leigh Tag Q2_23_promote_green was removed from gene: COASY.
Mitochondrial disorders v4.95 SPG7 Sarah Leigh commented on gene: SPG7: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Mitochondrial disorders v4.95 OGDH Sarah Leigh edited their review of gene: OGDH: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. This gene is not associated with primary mitochondrial disease. Consensus opinion from the 3 specialist mitochondrial providers.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.95 LETM1 Sarah Leigh edited their review of gene: LETM1: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.95 IDH3A Sarah Leigh edited their review of gene: IDH3A: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.95 ETFB Sarah Leigh edited their review of gene: ETFB: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. This gene is not associated with primary mitochondrial disease. Consensus opinion from the 3 specialist mitochondrial providers.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.95 ETFA Sarah Leigh edited their review of gene: ETFA: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. This gene is not associated with primary mitochondrial disease. Consensus opinion from the 3 specialist mitochondrial providers.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.95 CRLS1 Sarah Leigh reviewed gene: CRLS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.95 COASY Sarah Leigh edited their review of gene: COASY: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. This gene is not associated with primary mitochondrial disease. Consensus opinion from the 3 specialist mitochondrial providers.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.95 C2orf69 Sarah Leigh reviewed gene: C2orf69: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.95 ATP5O Sarah Leigh reviewed gene: ATP5O: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.94 SPG7 Sarah Leigh Source NHS GMS was added to SPG7.
Mode of inheritance for gene SPG7 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
Mitochondrial disorders v4.94 OGDH Sarah Leigh Source NHS GMS was added to OGDH.
Mitochondrial disorders v4.94 LETM1 Sarah Leigh Source Expert Review Green was added to LETM1.
Source NHS GMS was added to LETM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v4.94 IDH3A Sarah Leigh Source Expert Review Green was added to IDH3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v4.94 CRLS1 Sarah Leigh Source Expert Review Green was added to CRLS1.
Source NHS GMS was added to CRLS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v4.94 C2orf69 Sarah Leigh Source Expert Review Green was added to C2orf69.
Source NHS GMS was added to C2orf69.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v4.94 ATP5O Sarah Leigh Source Expert Review Green was added to ATP5O.
Source NHS GMS was added to ATP5O.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v4.93 SPATA5 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SPATA5.
Mitochondrial disorders v4.93 MT-ND6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.
Mitochondrial disorders v4.93 MT-ND5 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND5.
Mitochondrial disorders v4.93 MT-ND4L Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4L.
Mitochondrial disorders v4.93 MT-ND4 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4.
Mitochondrial disorders v4.93 MT-ND3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND3.
Mitochondrial disorders v4.93 MT-ND2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND2.
Mitochondrial disorders v4.93 MT-ND1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND1.
Mitochondrial disorders v4.93 MT-CYB Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CYB.
Mitochondrial disorders v4.93 MT-CO3 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO3.
Mitochondrial disorders v4.93 MT-CO2 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO2.
Mitochondrial disorders v4.93 MT-CO1 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO1.
Mitochondrial disorders v4.93 MT-ATP8 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP8.
Mitochondrial disorders v4.93 MT-ATP6 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Mitochondrial disorders v4.93 SLC52A2 Sarah Leigh Phenotypes for gene: SLC52A2 were changed from Brown-Vialetto-Van Laere syndrome 2, 614707 to Brown-Vialetto-Van Laere syndrome 2, OMIM:614707; brown-Vialetto-van Laere syndrome 2, MONDO:0013867
Mitochondrial disorders v4.92 SLC52A2 Sarah Leigh Publications for gene: SLC52A2 were set to
Mitochondrial disorders v4.91 PLA2G6 Sarah Leigh Tag Q3_23_promote_green tag was added to gene: PLA2G6.
Mitochondrial disorders v4.91 PLA2G6 Sarah Leigh Classified gene: PLA2G6 as Amber List (moderate evidence)
Mitochondrial disorders v4.91 PLA2G6 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Mitochondrial disorders v4.91 PLA2G6 Sarah Leigh Gene: pla2g6 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.90 PLA2G6 Sarah Leigh edited their review of gene: PLA2G6: Added comment: Phospholipase A2 group VI (PLA2G6) is located in the mitochondrial membrane, in addition to the cytosol and endoplasmic reticulum (PMID: 32357911). Studies in PLA2G6 variant Drosophilia and PLA2G6 knock-down human fibrocytes suggest that PLA2G6 plays an important role in endolysosomal and mitochondrial function in disease (PMID: 30528460). PLA2G6 variants have been associated with Infantile neuroaxonal dystrophy 1, (OMIM:256600), Neurodegeneration with brain iron accumulation 2B (OMIM:610217) and Parkinson disease 14, autosomal recessive (OMIM:612953)(PMID: 35803092, 16783378, 30528460.; Changed rating: GREEN; Changed publications to: 32357911
Mitochondrial disorders v4.90 PLA2G6 Sarah Leigh Phenotypes for gene: PLA2G6 were changed from Infantile neuroaxonal dystrophy 1 256600; Neurodegeneration with brain iron accumulation 2B 610217; Parkinson disease 14, autosomal recessive 612953 to Infantile neuroaxonal dystrophy 1, OMIM:256600; neurodegeneration with brain iron accumulation 2A, MONDO:0024457; Neurodegeneration with brain iron accumulation 2B, OMIM:610217; neurodegeneration with brain iron accumulation 2B, MONDO:0012444; Parkinson disease 14, autosomal recessive, OMIM:612953; autosomal recessive Parkinson disease 14 MONDO:0013060
Mitochondrial disorders v4.89 PLA2G6 Sarah Leigh Publications for gene: PLA2G6 were set to 29903433; 25348461; 26001724; 26506412; 30528460; 16783378
Mitochondrial disorders v4.88 PLA2G6 Sarah Leigh Mode of inheritance for gene: PLA2G6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.87 PLA2G6 Sarah Leigh Publications for gene: PLA2G6 were set to 29903433
Mitochondrial disorders v4.86 PITRM1 Sarah Leigh Tag Q3_23_promote_green tag was added to gene: PITRM1.
Mitochondrial disorders v4.86 PITRM1 Sarah Leigh Classified gene: PITRM1 as Amber List (moderate evidence)
Mitochondrial disorders v4.86 PITRM1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Mitochondrial disorders v4.86 PITRM1 Sarah Leigh Gene: pitrm1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.85 PITRM1 Sarah Leigh commented on gene: PITRM1: The review article "Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration" (PMID:34356897) outlines the role of PITRM1 in normal mitochondrial function, it also presents the published evidence which demonstrates the consequences of variant PITRM1, in humans and functional studies.
Mitochondrial disorders v4.85 PITRM1 Sarah Leigh edited their review of gene: PITRM1: Changed publications to: 33835239, 34356897
Mitochondrial disorders v4.85 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
Mitochondrial disorders v4.84 UQCRB Arina Puzriakova Publications for gene: UQCRB were set to 12709789; 25446085; 23454382; 28604960
Mitochondrial disorders v4.83 COQ4 Achchuthan Shanmugasundram Phenotypes for gene: COQ4 were changed from Coenzyme Q10 deficiency, primary, 7, OMIM:616276 to Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Mitochondrial disorders v4.83 COQ4 Achchuthan Shanmugasundram Phenotypes for gene: COQ4 were changed from Coenzyme Q10 deficiency, primary, 7, OMIM:616276 to Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Mitochondrial disorders v4.83 COQ4 Achchuthan Shanmugasundram Phenotypes for gene: COQ4 were changed from Coenzyme Q10 deficiency, primary, 7, OMIM:616276 to Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Mitochondrial disorders v4.83 COQ4 Achchuthan Shanmugasundram Phenotypes for gene: COQ4 were changed from Coenzyme Q10 deficiency, primary, 7; Disorders of ubiquinone metabolism and biosynthesis to Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Mitochondrial disorders v4.82 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
Mitochondrial disorders v4.82 QARS Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Zornitza Stark, QARS should be included in this panel with green rating in the next GMS review in line with other t-RNA synthetases.; to: Comment on list classification: As reviewed by Zornitza Stark, QARS should be included in this panel with green rating in line with other t-RNA synthetases.
Mitochondrial disorders v4.82 QARS Achchuthan Shanmugasundram Deleted their comment
Mitochondrial disorders v4.82 QARS Achchuthan Shanmugasundram Classified gene: QARS as Amber List (moderate evidence)
Mitochondrial disorders v4.82 QARS Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, QARS should be included in this panel with green rating in the next GMS review in line with other t-RNA synthetases.
Mitochondrial disorders v4.82 QARS Achchuthan Shanmugasundram Gene: qars has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.82 QARS Achchuthan Shanmugasundram Classified gene: QARS as Amber List (moderate evidence)
Mitochondrial disorders v4.82 QARS Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, QARS should be included in this panel with green rating in the next GMS review in line with other t-RNA synthetases.
Mitochondrial disorders v4.82 QARS Achchuthan Shanmugasundram Gene: qars has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.81 QARS Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: QARS.
Mitochondrial disorders v4.81 QARS Achchuthan Shanmugasundram Phenotypes for gene: QARS were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, OMIM:615760; Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Mitochondrial disorders v4.80 QARS Achchuthan Shanmugasundram Publications for gene: QARS were set to
Mitochondrial disorders v4.79 QARS Achchuthan Shanmugasundram Mode of inheritance for gene: QARS was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.78 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
Mitochondrial disorders v4.78 PANK2 Achchuthan Shanmugasundram Publications for gene: PANK2 were set to 11479594; 12510040; 25778941; 28863176
Mitochondrial disorders v4.78 PANK2 Achchuthan Shanmugasundram Publications for gene: PANK2 were set to 25778941; 11479594; 12510040; 28863176; 25778941
Mitochondrial disorders v4.77 PANK2 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: PANK2.
Mitochondrial disorders v4.77 PANK2 Achchuthan Shanmugasundram Deleted their comment
Mitochondrial disorders v4.77 PANK2 Achchuthan Shanmugasundram Classified gene: PANK2 as Amber List (moderate evidence)
Mitochondrial disorders v4.77 PANK2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, PANK2 is a mitochondrial enzyme and there is sufficient evidence for promoting this gene to green rating at the next major update.
Mitochondrial disorders v4.77 PANK2 Achchuthan Shanmugasundram Gene: pank2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.77 PANK2 Achchuthan Shanmugasundram Classified gene: PANK2 as Amber List (moderate evidence)
Mitochondrial disorders v4.77 PANK2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, PANK2 is a mitochondrial enzyme and there is sufficient evidence for promoting this gene to green rating at the next major update.
Mitochondrial disorders v4.77 PANK2 Achchuthan Shanmugasundram Gene: pank2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.76 PANK2 Achchuthan Shanmugasundram commented on gene: PANK2: This gene has been associated with relevant phenotypes in both OMIM (MIMs #607236 & #234200) and in Gene2Phenotype (HARP syndrome with 'definitive' rating in the eye panel).
Mitochondrial disorders v4.76 PANK2 Achchuthan Shanmugasundram Phenotypes for gene: PANK2 were changed from Neurodegeneration with brain iron accumulation 1, 234200HARP syndrome, 607236 to HARP syndrome, OMIM:607236; Neurodegeneration with brain iron accumulation 1, OMIM:234200
Mitochondrial disorders v4.75 PANK2 Achchuthan Shanmugasundram Publications for gene: PANK2 were set to 25778941; 11479594; 12510040; 28863176; 25778941
Mitochondrial disorders v4.75 PANK2 Achchuthan Shanmugasundram Publications for gene: PANK2 were set to
Mitochondrial disorders v4.74 PANK2 Achchuthan Shanmugasundram Mode of inheritance for gene: PANK2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.74 PANK2 Achchuthan Shanmugasundram Mode of inheritance for gene: PANK2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.73 PANK2 Achchuthan Shanmugasundram reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HARP syndrome, OMIM:607236, Neurodegeneration with brain iron accumulation 1, OMIM:234200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.73 OXCT1 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: OXCT1.
Mitochondrial disorders v4.73 OXCT1 Achchuthan Shanmugasundram Classified gene: OXCT1 as Amber List (moderate evidence)
Mitochondrial disorders v4.73 OXCT1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence available (at least three unrelated cases and functional evidence) in support of the association of this gene to Succinyl CoA:3-oxoacid CoA transferase deficiency (a mitochondrial enzyme).

In addition, this gene has been associated with this phenotype in both OMIM (MIM #245050) and Gene2Phenotype ('definitive' rating in the DD panel.

This gene can therefore be promoted to green rating in the next GMS update.
Mitochondrial disorders v4.73 OXCT1 Achchuthan Shanmugasundram Gene: oxct1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.72 OXCT1 Achchuthan Shanmugasundram Publications for gene: OXCT1 were set to
Mitochondrial disorders v4.71 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:245050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.71 MRPS23 Achchuthan Shanmugasundram reviewed gene: MRPS23: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v4.71 LETM1 Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as moderate Gen2Phen gene. PMID: 36055214 reports 12 LETM1 variants in 11 unrelated cases of Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction (OMIM: 620089), together with supportive functional studies.; 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).
Mitochondrial disorders v4.71 SLC22A5 Sarah Leigh Tag Q3_23_MOI was removed from gene: SLC22A5.
Mitochondrial disorders v4.71 SLC22A5 Sarah Leigh edited their review of gene: SLC22A5: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.71 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).
Mitochondrial disorders v4.71 LETM1 Sarah Leigh Publications for gene: LETM1 were set to 36055214
Mitochondrial disorders v4.70 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
Mitochondrial disorders v4.69 SLC25A24 Sarah Leigh Tag Q3_23_MOI tag was added to gene: SLC25A24.
Mitochondrial disorders v4.69 SLC25A24 Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 2 variants reported in at least nine unrelated cases.; to: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 2 variants reported in at least nine unrelated cases, together with supportive functional studies (PMID: 29100094; 29100093).
Mitochondrial disorders v4.69 SLC25A24 Sarah Leigh edited their review of gene: SLC25A24: Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disorders v4.69 SLC25A24 Sarah Leigh Phenotypes for gene: SLC25A24 were changed from Fontaine progeroid syndrome 612289 to Fontaine progeroid syndrome, OMIM; 612289; Fontaine progeroid syndrome, MONDO:0012853
Mitochondrial disorders v4.68 SLC25A24 Sarah Leigh Classified gene: SLC25A24 as Amber List (moderate evidence)
Mitochondrial disorders v4.68 SLC25A24 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Mitochondrial disorders v4.68 SLC25A24 Sarah Leigh Gene: slc25a24 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.67 SLC25A24 Sarah Leigh Tag Q3_23_promote_green tag was added to gene: SLC25A24.
Mitochondrial disorders v4.67 SLC25A20 Sarah Leigh Publications for gene: SLC25A20 were set to 9399886; 31108048; 25778941
Mitochondrial disorders v4.66 SLC25A20 Sarah Leigh Classified gene: SLC25A20 as Amber List (moderate evidence)
Mitochondrial disorders v4.66 SLC25A20 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Mitochondrial disorders v4.66 SLC25A20 Sarah Leigh Gene: slc25a20 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.65 SLC25A20 Sarah Leigh Tag Q3_23_promote_green tag was added to gene: SLC25A20.
Mitochondrial disorders v4.65 SLC25A20 Sarah Leigh edited their review of gene: SLC25A20: Added comment: SLC25A20 variants have been associated with Carnitine-acylcarnitine translocase deficiency in OMIM and as definitive Gen2Phen gene for the same condition. Numerous variants have been reported in unrelated cases.; Changed rating: GREEN
Mitochondrial disorders v4.65 SLC25A20 Sarah Leigh Phenotypes for gene: SLC25A20 were changed from Carnitine-acylcarnitine translocase deficiency, 212138 to Carnitine-acylcarnitine translocase deficiency, OMIM:212138; carnitine-acylcarnitine translocase deficiency, MONDO:0008918
Mitochondrial disorders v4.64 SLC25A20 Sarah Leigh Publications for gene: SLC25A20 were set to
Mitochondrial disorders v4.63 SLC22A5 Sarah Leigh Tag Q3_23_MOI tag was added to gene: SLC22A5.
Mitochondrial disorders v4.63 SLC22A5 Sarah Leigh Publications for gene: SLC22A5 were set to 9916797; 17884651; 25778941; 28857146
Mitochondrial disorders v4.62 SLC22A5 Sarah Leigh edited their review of gene: SLC22A5: Added comment: 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).; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v4.62 PPOX Achchuthan Shanmugasundram Publications for gene: PPOX were set to 9540991; 9811936; 10870850; 12859407; 25778941; 30476629; 32247286; 33159949
Mitochondrial disorders v4.62 PPOX Achchuthan Shanmugasundram Publications for gene: PPOX were set to
Mitochondrial disorders v4.61 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
Mitochondrial disorders v4.60 PPOX Achchuthan Shanmugasundram Deleted their comment
Mitochondrial disorders v4.60 PPOX Achchuthan Shanmugasundram Classified gene: PPOX as Amber List (moderate evidence)
Mitochondrial disorders v4.60 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'.
Mitochondrial disorders v4.60 PPOX Achchuthan Shanmugasundram Gene: ppox has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.60 PPOX Achchuthan Shanmugasundram Classified gene: PPOX as Amber List (moderate evidence)
Mitochondrial disorders v4.60 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'.
Mitochondrial disorders v4.60 PPOX Achchuthan Shanmugasundram Gene: ppox has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.59 PPOX Achchuthan Shanmugasundram Tag Q3_23_MOI was removed from gene: PPOX.
Tag Q3_23_promote_green tag was added to gene: PPOX.
Mitochondrial disorders v4.59 PPOX Achchuthan Shanmugasundram Tag Q3_23_MOI tag was added to gene: PPOX.
Mitochondrial disorders v4.59 PPOX Achchuthan Shanmugasundram edited their review of gene: PPOX: Changed publications to: 9540991, 10870850, 25778941, 30476629, 32247286, 33159949
Mitochondrial disorders v4.59 PPOX Achchuthan Shanmugasundram changed review comment from: 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 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.
Mitochondrial disorders v4.59 PPOX Achchuthan Shanmugasundram changed review comment from: PMID:30476629 - Eight unrelated individuals with seven different variants in heterozygous state were reported with Variegate porphyria (VP).

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.

Autosomal dominant variants in this gene have been associated with Variegate porphyria in OMIM (MIM #176200).; to: 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.
Mitochondrial disorders v4.59 PPOX Achchuthan Shanmugasundram edited their review of gene: PPOX: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v4.59 PPOX Achchuthan Shanmugasundram reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 30476629, 32247286; Phenotypes: Porphyria variegata, OMIM:176200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disorders v4.59 ANO10 Sarah Leigh Phenotypes for gene: ANO10 were changed from Spinocerebellar ataxia, autosomal recessive 10, 613728 to Spinocerebellar ataxia, autosomal recessive 10, OMIM:613728; autosomal recessive spinocerebellar ataxia 10, MONDO:0013392
Mitochondrial disorders v4.58 ANO10 Sarah Leigh Publications for gene: ANO10 were set to
Mitochondrial disorders v4.57 ANO10 Sarah Leigh Tag Q3_23_expert_review tag was added to gene: ANO10.
Mitochondrial disorders v4.57 BTD Sarah Leigh Tag Q3_23_expert_review tag was added to gene: BTD.
Mitochondrial disorders v4.57 ANO10 Sarah Leigh reviewed gene: ANO10: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v4.57 BTD Sarah Leigh reviewed gene: BTD: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v4.57 BTD Sarah Leigh Phenotypes for gene: BTD were changed from Biotinidase deficiency to Biotinidase deficiency, OMIM:253260; biotinidase deficiency, MONDO:0009665
Mitochondrial disorders v4.56 SLC22A5 Sarah Leigh changed review comment from: Numerous SLC22A5 variants are associated with a relevant phenotype in OMIM (OMIM:212140) and SLC22A5 has a definitive association in Gen2Phen for Systemic Carnitine Deficiency. A supportive mouse model has also been reported (PMID: 17884651).; to: Numerous SLC22A5 variants have been associated with OMIM:212140, and SLC22A5 has a definitive association in Gen2Phen for Systemic Carnitine Deficiency. A supportive mouse model has also been reported (PMID: 17884651).
Mitochondrial disorders v4.56 SLC22A5 Sarah Leigh edited their review of gene: SLC22A5: Added comment: Numerous SLC22A5 variants are associated with a relevant phenotype in OMIM (OMIM:212140) and SLC22A5 has a definitive association in Gen2Phen for Systemic Carnitine Deficiency. A supportive mouse model has also been reported (PMID: 17884651).; Changed rating: GREEN
Mitochondrial disorders v4.56 SLC22A5 Sarah Leigh Publications for gene: SLC22A5 were set to 9916797; 17884651; 25778941
Mitochondrial disorders v4.55 SLC22A5 Sarah Leigh Tag Q3_23_promote_green tag was added to gene: SLC22A5.
Mitochondrial disorders v4.55 SLC22A5 Sarah Leigh Classified gene: SLC22A5 as Amber List (moderate evidence)
Mitochondrial disorders v4.55 SLC22A5 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Mitochondrial disorders v4.55 SLC22A5 Sarah Leigh Gene: slc22a5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.54 SLC22A5 Sarah Leigh Publications for gene: SLC22A5 were set to 9916797; 25778941; 17884651; 25778941
Mitochondrial disorders v4.53 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
Mitochondrial disorders v4.52 SLC22A5 Sarah Leigh Publications for gene: SLC22A5 were set to
Mitochondrial disorders v4.51 IDH3A Sarah Leigh Classified gene: IDH3A as Amber List (moderate evidence)
Mitochondrial disorders v4.51 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.
Mitochondrial disorders v4.51 IDH3A Sarah Leigh Gene: idh3a has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.50 IDH3A Sarah Leigh Tag Q2_23_promote_green tag was added to gene: IDH3A.
Mitochondrial disorders v4.50 IDH3A Sarah Leigh edited their review of gene: IDH3A: Added comment: Associated with relevant phenotype in OMIM and as strong Gen2Phen gene. At least nine IDH3A variants have been reported in six unrelated cases of Retinitis pigmentosa 90, OMIM:619007. Mice homozygous for p.E229K variant exhibited signs of retinal stress, those who were compound heterozygous for p.E229K and Idh3a knockout, had more severe retinal degeneration and embryonic lethality was seen in Idh3a knockout mice; reduced mitochondrial function was seen in the equivalent cell lines (PMID: 30478029).; Changed rating: GREEN
Mitochondrial disorders v4.50 IDH3A Sarah Leigh Deleted their comment
Mitochondrial disorders v4.50 IDH3A Sarah Leigh Publications for gene: IDH3A were set to 28412069; 28058510
Mitochondrial disorders v4.49 IDH3A Sarah Leigh Added comment: Comment on phenotypes: Retinitis pigmentosa with macular pseudocoloboma; Infantile encephalopathy
Mitochondrial disorders v4.49 IDH3A Sarah Leigh Phenotypes for gene: IDH3A were changed from Retinitis pigmentosa with macular pseudocoloboma; Infantile encephalopathy to Retinitis pigmentosa 90, OMIM:619007; retinitis pigmentosa 90, MONDO:0033563
Mitochondrial disorders v4.48 IDH3A Sarah Leigh Added comment: Comment on phenotypes: Retinitis pigmentosa 90, OMIM:619007;retinitis pigmentosa 90, MONDO:0033563
Mitochondrial disorders v4.48 IDH3A Sarah Leigh Phenotypes for gene: IDH3A were changed from Retinitis pigmentosa with macular pseudocoloboma; Infantile encephalopathy to Retinitis pigmentosa with macular pseudocoloboma; Infantile encephalopathy
Mitochondrial disorders v4.47 ETFB Sarah Leigh Publications for gene: ETFB were set to 7912128; 12815589
Mitochondrial disorders v4.46 ETFB Sarah Leigh Publications for gene: ETFB were set to
Mitochondrial disorders v4.45 ETFB Sarah Leigh Tag Q2_23_promote_green tag was added to gene: ETFB.
Mitochondrial disorders v4.45 ETFB Sarah Leigh edited their review of gene: ETFB: Added comment: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. At least three ETFB variants have been reported in at least three cases.; Changed rating: GREEN; Changed publications to: 7912128, 12815589
Mitochondrial disorders v4.45 ETFB Sarah Leigh Phenotypes for gene: ETFB were changed from Glutaric acidemia IIB ,231680 to Glutaric acidemia IIB, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Mitochondrial disorders v4.44 ETFB Sarah Leigh Classified gene: ETFB as Amber List (moderate evidence)
Mitochondrial disorders v4.44 ETFB Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Mitochondrial disorders v4.44 ETFB Sarah Leigh Gene: etfb has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.43 ETFA Sarah Leigh Tag Q2_23_promote_green tag was added to gene: ETFA.
Mitochondrial disorders v4.43 ETFA Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. At least ETFA five variants have been reported in at least five unrelated cases.; to: Associated with phenotype in OMIM and as a definitive Developmental Disorder Gene / G2P. At least five ETFA variants have been reported, two in homozygous and compound heterozygous cases and three as compound heterozygotes (at least eight unrelated cases).
Mitochondrial disorders v4.43 ETFA Sarah Leigh Classified gene: ETFA as Amber List (moderate evidence)
Mitochondrial disorders v4.43 ETFA Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Mitochondrial disorders v4.43 ETFA Sarah Leigh Gene: etfa has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.42 ETFA Sarah Leigh edited their review of gene: ETFA: Added comment: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. At least ETFA five variants have been reported in at least five unrelated cases.; Changed rating: GREEN
Mitochondrial disorders v4.42 ETFA Sarah Leigh Publications for gene: ETFA were set to 1882842; 12815589
Mitochondrial disorders v4.41 ETFA Sarah Leigh Phenotypes for gene: ETFA were changed from Glutaric acidemia IIA ,231680 to Glutaric acidemia IIA, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Mitochondrial disorders v4.40 ETFA Sarah Leigh Publications for gene: ETFA were set to
Mitochondrial disorders v4.39 LETM1 Sarah Leigh Classified gene: LETM1 as Amber List (moderate evidence)
Mitochondrial disorders v4.39 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.
Mitochondrial disorders v4.39 LETM1 Sarah Leigh Gene: letm1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.38 LETM1 Sarah Leigh reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v4.38 COASY Sarah Leigh Classified gene: COASY as Amber List (moderate evidence)
Mitochondrial disorders v4.38 COASY Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Mitochondrial disorders v4.38 COASY Sarah Leigh Gene: coasy has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.37 COASY Sarah Leigh Tag Q2_23_promote_green tag was added to gene: COASY.
Mitochondrial disorders v4.37 COASY Sarah Leigh Publications for gene: COASY were set to 11980892; 25778941; 24360804; 28489334; 30089828; 36495139
Mitochondrial disorders v4.36 COASY Sarah Leigh Publications for gene: COASY were set to 25778941; 24360804; 30089828; 28489334
Mitochondrial disorders v4.35 COASY Sarah Leigh edited their review of gene: COASY: Added comment: COASY variants are associated with Neurodegeneration with brain iron accumulation 6 (OMIM: 615643) and as definitive Gen2Phen gene for neurodegeneration with brain iron accumulation and also with Pontocerebellar hypoplasia, type 12, OMIM:618266.
PMID: 24360804 & 28489334 report three COASY variants in three unrelated cases of OMIM: 615643, with supportive functional studies presented (PMID: 24360804). PMID: 30089828 report two COASY variants in two unrelated cases of OMIM:618266, with in vitro functional studies revealing an absence of COASY-protein. A further homozygous COASY variant has been reported in two sibs with a novel neonatal-onset progressive neurodegenerative disorder with striking brain MRI findings (PMID: 36495139).
It has been established that the COASY protein - coenzyme A synthase - is associated with the outer mitochondrial membrane (PMID: 11980892, 24360804).; Changed rating: GREEN
Mitochondrial disorders v4.35 COASY Sarah Leigh Phenotypes for gene: COASY were changed from Neurodegeneration with brain iron accumulation 6, 615643; Pontocerebellar hypoplasia, type 12, 618266 to Neurodegeneration with brain iron accumulation 6, OMIM:615643; neurodegeneration with brain iron accumulation 6, MONDO:0014290; Pontocerebellar hypoplasia, type 12, OMIM:618266; pontocerebellar hypoplasia, type 12, MONDO:0032643
Mitochondrial disorders v4.34 COASY Sarah Leigh Publications for gene: COASY were set to
Mitochondrial disorders v4.33 LETM1 Sarah Leigh Tag Q2_23_promote_green tag was added to gene: LETM1.
Mitochondrial disorders v4.33 LETM1 Sarah Leigh Mode of inheritance for gene: LETM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.32 LETM1 Sarah Leigh Phenotypes for gene: LETM1 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089
Mitochondrial disorders v4.31 LETM1 Sarah Leigh Publications for gene: LETM1 were set to
Mitochondrial disorders v4.30 OGDH Sarah Leigh Classified gene: OGDH as Amber List (moderate evidence)
Mitochondrial disorders v4.30 OGDH Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Mitochondrial disorders v4.30 OGDH Sarah Leigh Gene: ogdh has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.29 OGDH Sarah Leigh Tag Q2_23_promote_green tag was added to gene: OGDH.
Mitochondrial disorders v4.29 OGDH Sarah Leigh edited their review of gene: OGDH: Added comment: Associated with relevant phenotype in OMIM and as moderate Gen2Phen gene. At least four variants have been reported in four unrelated cases, together with supportive functional studies (PMIDs: 32383294, 36520152).; Changed rating: GREEN
Mitochondrial disorders v4.29 OGDH Sarah Leigh Phenotypes for gene: OGDH were changed from Alpha-ketoglutarate dehydrogenase deficiency OMIM:203740; oxoglutaricaciduria MONDO:0008759 to Alpha-ketoglutarate dehydrogenase deficiency, OMIM:203740; oxoglutaricaciduria, MONDO:0008759
Mitochondrial disorders v4.28 OGDH Sarah Leigh Publications for gene: OGDH were set to 32383294
Mitochondrial disorders v4.27 C2orf69 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: C2orf69.
Mitochondrial disorders v4.27 C2orf69 Arina Puzriakova Classified gene: C2orf69 as Amber List (moderate evidence)
Mitochondrial disorders v4.27 C2orf69 Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Zornitza Stark (Australian Genomics). Associated with a relevant phenotype in OMIM (MIM# 619423) but is not yet listed in G2P. At least 13 unrelated families reported in literature (PMIDs: 33945503; 34038740). Sufficient cases plus zebrafish model to promote this gene to green at the next GMS panel update.
Mitochondrial disorders v4.27 C2orf69 Arina Puzriakova Gene: c2orf69 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.26 C2orf69 Arina Puzriakova Phenotypes for gene: C2orf69 were changed from Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423 to Combined oxidative phosphorylation deficiency 53, OMIM:619423
Mitochondrial disorders v4.25 PDHX Arina Puzriakova Phenotypes for gene: PDHX were changed from Lacticacidemia due to PDX1 deficiency to Lacticacidemia due to PDX1 deficiency, OMIM:245349
Mitochondrial disorders v4.24 PDHB Arina Puzriakova Phenotypes for gene: PDHB were changed from Pyruvate dehydrogenase E1-beta deficiency, 614111 to Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111
Mitochondrial disorders v4.23 PC Arina Puzriakova Phenotypes for gene: PC were changed from Pyruvate carboxylase deficiency to Pyruvate carboxylase deficiency, OMIM:266150
Mitochondrial disorders v4.22 NDUFS1 Arina Puzriakova Phenotypes for gene: NDUFS1 were changed from Isolated complex I deficiency; Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency to Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226
Mitochondrial disorders v4.21 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
Mitochondrial disorders v4.20 SUCLA2 Arina Puzriakova Phenotypes for gene: SUCLA2 were changed from Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonicaciduria), 612073; Mitochondrial DNA Depletion Syndrome to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity
Mitochondrial disorders v4.19 NDUFV2 Arina Puzriakova Phenotypes for gene: NDUFV2 were changed from Isolated complex I deficiency; Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency to Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229
Mitochondrial disorders v4.18 NDUFB7 Arina Puzriakova Phenotypes for gene: NDUFB7 were changed from Congenital lactic acidosis; hypertrophic cardiomyopathy to ?Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135
Mitochondrial disorders v4.17 NDUFB3 Arina Puzriakova Phenotypes for gene: NDUFB3 were changed from Isolated complex I deficiency; Mitochondrial complex I deficiency, 252010 to Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246
Mitochondrial disorders v4.16 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
Mitochondrial disorders v4.15 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
Mitochondrial disorders v4.14 MRPS14 Arina Puzriakova Phenotypes for gene: MRPS14 were changed from No OMIM phenotype to ?Combined oxidative phosphorylation deficiency 38, OMIM:618378
Mitochondrial disorders v4.13 MPC1 Arina Puzriakova Phenotypes for gene: MPC1 were changed from Mitochondrial pyruvate carrier deficiency, 614741 to Mitochondrial pyruvate carrier deficiency, OMIM:614741
Mitochondrial disorders v4.12 GFM2 Arina Puzriakova Phenotypes for gene: GFM2 were changed from Early-onset neurological presentations of mitochondrial disease; Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Combined oxidative phosphorylation deficiency 39, OMIM:618397; Early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits
Mitochondrial disorders v4.11 GATB Arina Puzriakova Mode of inheritance for gene: GATB was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.10 GATB Arina Puzriakova Phenotypes for gene: GATB were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to ?Combined oxidative phosphorylation deficiency 41, OMIM:618838
Mitochondrial disorders v4.9 ECHS1 Arina Puzriakova Phenotypes for gene: ECHS1 were changed from Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277
Mitochondrial disorders v4.8 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
Mitochondrial disorders v4.7 ATP5O Arina Puzriakova Phenotypes for gene: ATP5O were changed from No OMIM phenotype to Mitochondrial complex V (ATP synthase) deficiency
Mitochondrial disorders v4.6 ATP5O Arina Puzriakova Publications for gene: ATP5O were set to
Mitochondrial disorders v4.5 ATP5O Arina Puzriakova Mode of inheritance for gene: ATP5O was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.4 ATP5O Arina Puzriakova Classified gene: ATP5O as Amber List (moderate evidence)
Mitochondrial disorders v4.4 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.
Mitochondrial disorders v4.4 ATP5O Arina Puzriakova Gene: atp5o has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.3 ATP5O Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: ATP5O.
Mitochondrial disorders v4.3 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
Mitochondrial disorders v4.3 SPG7 Sarah Leigh Publications for gene: SPG7 were set to
Mitochondrial disorders v4.2 SPG7 Sarah Leigh Tag Q2_23_MOI tag was added to gene: SPG7.
Mitochondrial disorders v4.2 SPG7 Sarah Leigh reviewed gene: SPG7: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mitochondrial disorders v4.2 SPG7 Sarah Leigh Phenotypes for gene: SPG7 were changed from Disorders of mitochondrial DNA maintenance and integrity; Spastic paraplegia 7, autosomal recessive, 607259 to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803
Mitochondrial disorders v4.1 Arina Puzriakova Panel version 4.0 has been signed off on 2023-03-22
Mitochondrial disorders v4.0 Arina Puzriakova promoted panel to version 4.0
Mitochondrial disorders v3.12 CRLS1 Achchuthan Shanmugasundram changed review comment from: 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; to: 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
Mitochondrial disorders v3.12 CRLS1 Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: CRLS1.
Mitochondrial disorders v3.12 CRLS1 Achchuthan Shanmugasundram changed review comment from: 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.; to: 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.
Mitochondrial disorders v3.12 CRLS1 Achchuthan Shanmugasundram Classified gene: CRLS1 as Amber List (moderate evidence)
Mitochondrial disorders v3.12 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.
Mitochondrial disorders v3.12 CRLS1 Achchuthan Shanmugasundram Gene: crls1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v3.11 CRLS1 Achchuthan Shanmugasundram edited their review of gene: CRLS1: Changed rating: GREEN
Mitochondrial disorders v3.11 CRLS1 Achchuthan Shanmugasundram gene: CRLS1 was added
gene: CRLS1 was added to Mitochondrial disorders. 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
Mitochondrial disorders v3.10 SLC39A8 Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 variants reported in 3 unrelated cases; to: Associated with Congenital disorder of glycosylation, type IIn, OMIM:616721 and as definitive gene in Gen2Phen for Intellectual Disability with Cerebellar Atrophy. However, as stated by Zornitza Stark (Australian Genomics) there is insufficient evidence for mitochondrial phenotype associated with this gene.
Mitochondrial disorders v3.10 SLC39A8 Sarah Leigh Publications for gene: SLC39A8 were set to 29903433
Mitochondrial disorders v3.9 SLC39A8 Sarah Leigh Phenotypes for gene: SLC39A8 were changed from Congenital disorder of glycosylation, type IIn 616721 to Congenital disorder of glycosylation, type IIn, OMIM:616721; SLC39A8-CDG, MONDO:0014746
Mitochondrial disorders v3.8 SLC39A8 Sarah Leigh Mode of inheritance for gene: SLC39A8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v3.7 NAXD Eleanor Williams Added comment: Comment on mode of inheritance: Setting the mode of inheritance to Biallelic as per OMIM and the expert reviewer.
Mitochondrial disorders v3.7 NAXD Eleanor Williams Mode of inheritance for gene: NAXD was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v3.6 XPNPEP3 Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.

Note from GMS reviewers: The phenotype arising from mutation of this gene is not that of mitochondrial disease. Not sure there is sufficient evidence that this can be classified as primary mitochondrial disease, but may be appropriate to include elsewhere in white matter disorders panel (C&S).
Mitochondrial disorders v3.6 XPNPEP3 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: XPNPEP3.
Tag Q2_21_phenotype was removed from gene: XPNPEP3.
Tag Q2_21_expert_review was removed from gene: XPNPEP3.
Mitochondrial disorders v3.6 PDK3 Achchuthan Shanmugasundram Tag Q1_22_phenotype was removed from gene: PDK3.
Tag Q2_22_rating was removed from gene: PDK3.
Tag Q2_22_expert_review was removed from gene: PDK3.
Mitochondrial disorders v3.6 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.

Note from GMS reviewers: Phenotype from mutations from this gene is not that of Mitochondrial disease - appropriate to be green on Neuropathy panel(NT). Not sure there is sufficient evidence that this can be classified as primary mitochondrial disease, but may be appropriate to include elsewhere in white matter disorders panel (C&S).
Mitochondrial disorders v3.6 MARS2 Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Green.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Green.

Comment from GMS reviewers: If AR spastic ataxia cases due to rearrangement/duplication variants are included this is a green gene (NT), There looks to be sufficient evidence - include spastic ataxia OMIM #611390(C&S)
Mitochondrial disorders v3.6 MARS2 Achchuthan Shanmugasundram Tag Q2_22_rating was removed from gene: MARS2.
Tag Q2_22_expert_review was removed from gene: MARS2.
Mitochondrial disorders v3.6 COX14 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated to Amber following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Amber following NHS Genomic Medicine Service approval.
Mitochondrial disorders v3.6 COX14 Achchuthan Shanmugasundram Tag Q2_22_rating was removed from gene: COX14.
Tag Q2_22_expert_review was removed from gene: COX14.
Mitochondrial disorders v3.6 TARS2 Achchuthan Shanmugasundram Tag Q4_21_rating was removed from gene: TARS2.
Mitochondrial disorders v3.6 SSBP1 Achchuthan Shanmugasundram Tag Q1_22_rating was removed from gene: SSBP1.
Mitochondrial disorders v3.6 NFS1 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: NFS1.
Mitochondrial disorders v3.6 NDUFA12 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: NDUFA12.
Mitochondrial disorders v3.6 NAXD Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: NAXD.
Mitochondrial disorders v3.6 LIG3 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: LIG3.
Mitochondrial disorders v3.6 KIAA0391 Achchuthan Shanmugasundram Tag Q4_21_rating was removed from gene: KIAA0391.
Mitochondrial disorders v3.6 CLPB Achchuthan Shanmugasundram Tag Q4_21_MOI was removed from gene: CLPB.
Mitochondrial disorders v3.6 ACO2 Achchuthan Shanmugasundram Tag Q2_22_MOI was removed from gene: ACO2.
Mitochondrial disorders v3.6 UQCRFS1 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: UQCRFS1.
Mitochondrial disorders v3.6 UQCRC2 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: UQCRC2.
Mitochondrial disorders v3.6 TIMMDC1 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: TIMMDC1.
Mitochondrial disorders v3.6 TFAM Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: TFAM.
Mitochondrial disorders v3.6 SDHB Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: SDHB.
Mitochondrial disorders v3.6 SDHA Achchuthan Shanmugasundram Tag Q3_22_MOI was removed from gene: SDHA.
Mitochondrial disorders v3.6 POLRMT Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: POLRMT.
Mitochondrial disorders v3.6 NSUN3 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NSUN3.
Mitochondrial disorders v3.6 NDUFC2 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFC2.
Mitochondrial disorders v3.6 NDUFB10 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFB10.
Mitochondrial disorders v3.6 NDUFA8 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFA8.
Mitochondrial disorders v3.6 NDUFA13 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFA13.
Mitochondrial disorders v3.6 LYRM4 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: LYRM4.
Mitochondrial disorders v3.6 COX6A2 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: COX6A2.
Mitochondrial disorders v3.6 ATP5G3 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: ATP5G3.
Mitochondrial disorders v3.6 ATP5A1 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: ATP5A1.
Mitochondrial disorders v3.6 XPNPEP3 Achchuthan Shanmugasundram reviewed gene: XPNPEP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 PDK3 Achchuthan Shanmugasundram reviewed gene: PDK3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 MARS2 Achchuthan Shanmugasundram reviewed gene: MARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 COX14 Achchuthan Shanmugasundram reviewed gene: COX14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 TARS2 Achchuthan Shanmugasundram commented on gene: TARS2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Mitochondrial disorders v3.6 SSBP1 Achchuthan Shanmugasundram reviewed gene: SSBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 NFS1 Achchuthan Shanmugasundram reviewed gene: NFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 NDUFA12 Achchuthan Shanmugasundram reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 NAXD Achchuthan Shanmugasundram reviewed gene: NAXD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 LIG3 Achchuthan Shanmugasundram reviewed gene: LIG3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 KIAA0391 Achchuthan Shanmugasundram reviewed gene: KIAA0391: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 CLPB Achchuthan Shanmugasundram commented on gene: CLPB
Mitochondrial disorders v3.6 ACO2 Achchuthan Shanmugasundram commented on gene: ACO2
Mitochondrial disorders v3.6 UQCRFS1 Achchuthan Shanmugasundram reviewed gene: UQCRFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 UQCRC2 Achchuthan Shanmugasundram reviewed gene: UQCRC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 TIMMDC1 Achchuthan Shanmugasundram reviewed gene: TIMMDC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 TFAM Achchuthan Shanmugasundram reviewed gene: TFAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 SDHB Achchuthan Shanmugasundram reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 SDHA Achchuthan Shanmugasundram commented on gene: SDHA
Mitochondrial disorders v3.6 POLRMT Achchuthan Shanmugasundram reviewed gene: POLRMT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 NSUN3 Achchuthan Shanmugasundram reviewed gene: NSUN3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 NDUFC2 Achchuthan Shanmugasundram reviewed gene: NDUFC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 NDUFB10 Achchuthan Shanmugasundram reviewed gene: NDUFB10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 NDUFA8 Achchuthan Shanmugasundram reviewed gene: NDUFA8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 NDUFA13 Achchuthan Shanmugasundram reviewed gene: NDUFA13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 LYRM4 Achchuthan Shanmugasundram reviewed gene: LYRM4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 COX6A2 Achchuthan Shanmugasundram reviewed gene: COX6A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 ATP5G3 Achchuthan Shanmugasundram reviewed gene: ATP5G3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.6 ATP5A1 Achchuthan Shanmugasundram reviewed gene: ATP5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v3.5 UQCRFS1 Achchuthan Shanmugasundram Source NHS GMS was added to UQCRFS1.
Source Expert Review Green was added to UQCRFS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 UQCRC2 Achchuthan Shanmugasundram Source NHS GMS was added to UQCRC2.
Source Expert Review Green was added to UQCRC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 TIMMDC1 Achchuthan Shanmugasundram Source NHS GMS was added to TIMMDC1.
Source Expert Review Green was added to TIMMDC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 TFAM Achchuthan Shanmugasundram Source Expert Review Green was added to TFAM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 TARS2 Achchuthan Shanmugasundram Source NHS GMS was added to TARS2.
Source Expert Review Green was added to TARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 SSBP1 Achchuthan Shanmugasundram Source Expert Review Green was added to SSBP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 SDHB Achchuthan Shanmugasundram Source NHS GMS was added to SDHB.
Source Expert Review Green was added to SDHB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 SDHA Achchuthan Shanmugasundram Source NHS GMS was added to SDHA.
Mode of inheritance for gene SDHA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v3.5 POLRMT Achchuthan Shanmugasundram Source Expert Review Green was added to POLRMT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 NSUN3 Achchuthan Shanmugasundram Source Expert Review Green was added to NSUN3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 NFS1 Achchuthan Shanmugasundram Source NHS GMS was added to NFS1.
Source Expert Review Green was added to NFS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 NDUFC2 Achchuthan Shanmugasundram Source NHS GMS was added to NDUFC2.
Source Expert Review Green was added to NDUFC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 NDUFB10 Achchuthan Shanmugasundram Source NHS GMS was added to NDUFB10.
Source Expert Review Green was added to NDUFB10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 NDUFA8 Achchuthan Shanmugasundram Source NHS GMS was added to NDUFA8.
Source Expert Review Green was added to NDUFA8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 NDUFA13 Achchuthan Shanmugasundram Source NHS GMS was added to NDUFA13.
Source Expert Review Green was added to NDUFA13.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 NDUFA12 Achchuthan Shanmugasundram Source NHS GMS was added to NDUFA12.
Source Expert Review Green was added to NDUFA12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 NAXD Achchuthan Shanmugasundram Source NHS GMS was added to NAXD.
Source Expert Review Green was added to NAXD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 LYRM4 Achchuthan Shanmugasundram Source NHS GMS was added to LYRM4.
Source Expert Review Green was added to LYRM4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 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)
Mitochondrial disorders v3.5 KIAA0391 Achchuthan Shanmugasundram Source NHS GMS was added to KIAA0391.
Source Expert Review Green was added to KIAA0391.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 COX6A2 Achchuthan Shanmugasundram Source Expert Review Green was added to COX6A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 COX14 Achchuthan Shanmugasundram Source Expert Review Amber was added to COX14.
Source NHS GMS was added to COX14.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Mitochondrial disorders v3.5 CLPB Achchuthan Shanmugasundram Source NHS GMS was added to CLPB.
Mode of inheritance for gene CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v3.5 ATP5G3 Achchuthan Shanmugasundram Source NHS GMS was added to ATP5G3.
Source Expert Review Green was added to ATP5G3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 ATP5A1 Achchuthan Shanmugasundram Source NHS GMS was added to ATP5A1.
Source Expert Review Green was added to ATP5A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v3.5 ACO2 Achchuthan Shanmugasundram Source NHS GMS was added to ACO2.
Mode of inheritance for gene ACO2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v3.4 COX15 Arina Puzriakova Phenotypes for gene: COX15 were changed from Isolated complex IV deficiency; Leigh syndrome due to cytochrome c oxidase deficiency, 256000; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency to Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119
Mitochondrial disorders v3.3 COX10 Arina Puzriakova Phenotypes for gene: COX10 were changed from Isolated complex IV deficiency; Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome coxidase deficiency; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency to Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046
Mitochondrial disorders v3.2 TARS2 Achchuthan Shanmugasundram Phenotypes for gene: TARS2 were changed from Combined oxidative phosphorylation deficiency 21, OMIM:615918 to Combined oxidative phosphorylation deficiency 21, OMIM:615918, MONDO:0014398
Mitochondrial disorders v3.1 TARS2 Achchuthan Shanmugasundram reviewed gene: TARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34508595; Phenotypes: Combined oxidative phosphorylation deficiency 21, MIM# 615918, MONDO:0014398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v3.1 Achchuthan Shanmugasundram Panel version 3.0 has been signed off on 2022-11-30
Mitochondrial disorders v3.0 Achchuthan Shanmugasundram promoted panel to version 3.0
Mitochondrial disorders v2.178 GATM Arina Puzriakova Phenotypes for gene: GATM were changed from Cerebral creatine deficiency syndrome 3, 612718; arginine:glycine amidinotransferase deficiency to Cerebral creatine deficiency syndrome 3, OMIM:612718
Mitochondrial disorders v2.177 XPNPEP3 Eleanor Williams Tag Q1_22_rating was removed from gene: XPNPEP3.
Tag Q2_21_rating tag was added to gene: XPNPEP3.
Mitochondrial disorders v2.177 FASTKD2 Arina Puzriakova Phenotypes for gene: FASTKD2 were changed from Isolated complex IV deficiency; Mitochondrial complex IV deficiency, 220110; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency to Combined oxidative phosphorylation deficiency 44, OMIM:618855
Mitochondrial disorders v2.176 UQCRC2 Arina Puzriakova Publications for gene: UQCRC2 were set to 28275242; 23281071
Mitochondrial disorders v2.175 UQCRC2 Arina Puzriakova Phenotypes for gene: UQCRC2 were changed from Isolated complex III deficiency; Mitochondrial complex III deficiency, nuclear type 5, 615160 to Mitochondrial complex III deficiency, nuclear type 5, OMIM:615160
Mitochondrial disorders v2.174 UQCRC1 Arina Puzriakova Classified gene: UQCRC1 as Amber List (moderate evidence)
Mitochondrial disorders v2.174 UQCRC1 Arina Puzriakova Added comment: Comment on list classification: Rating Amber based on current evidence - three unrelated individuals with Parkinson's disease and heterozygous variants identified by one group (PMID: 33141179) but results have failed to be replicated in large European and Chinese cohorts (PMIDs: 33779694; 33248804)
Mitochondrial disorders v2.174 UQCRC1 Arina Puzriakova Gene: uqcrc1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v2.173 UQCRC1 Arina Puzriakova Publications for gene: UQCRC1 were set to
Mitochondrial disorders v2.172 UQCRC1 Arina Puzriakova Mode of inheritance for gene: UQCRC1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disorders v2.171 UQCRC1 Arina Puzriakova Phenotypes for gene: UQCRC1 were changed from No OMIM phenotype to Parkinsonism with polyneuropathy, OMIM:619279
Mitochondrial disorders v2.170 PET117 Arina Puzriakova Phenotypes for gene: PET117 were changed from No OMIM phenotype to Mitochondrial complex IV deficiency, nuclear type 19, OMIM:619063
Mitochondrial disorders v2.169 NFS1 Arina Puzriakova Phenotypes for gene: NFS1 were changed from No OMIM phenotype to Combined oxidative phosphorylation deficiency 52, OMIM:619386
Mitochondrial disorders v2.168 TWNK Arina Puzriakova Phenotypes for gene: TWNK were changed from Disorders of mitochondrial DNA maintenance and integrity; Progressive external ophthalmoplegia, autosomal dominant, 3, 609286; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Mitochondrial DNA Depletion Syndrome; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions (monoallelic); Mitochondrial Membrane Protein-Associated Neurodegeneration (biallelic); Mitochondrial DNA Depletion Syndrome (biallelic) 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
Mitochondrial disorders v2.167 SDHA Arina Puzriakova Publications for gene: SDHA were set to
Mitochondrial disorders v2.166 SDHA Arina Puzriakova Phenotypes for gene: SDHA were changed from Isolated complex II deficiency; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642; Paragangliomas 5, 614165; Mitochondrial Respiratory Chain Complex II Deficiency 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
Mitochondrial disorders v2.165 QRSL1 Arina Puzriakova Phenotypes for gene: QRSL1 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 40, 618835 to Combined oxidative phosphorylation deficiency 40, OMIM:618835
Mitochondrial disorders v2.164 QRSL1 Arina Puzriakova Publications for gene: QRSL1 were set to 29440775; 26741492
Mitochondrial disorders v2.163 POLG2 Arina Puzriakova Phenotypes for gene: POLG2 were changed from Disorders of mitochondrial DNA maintenance and integrity; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4,610131; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 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
Mitochondrial disorders v2.162 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
Mitochondrial disorders v2.161 UQCRFS1 Arina Puzriakova Publications for gene: UQCRFS1 were set to
Mitochondrial disorders v2.160 UQCRFS1 Arina Puzriakova Phenotypes for gene: UQCRFS1 were changed from No OMIM phenotype to Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775
Mitochondrial disorders v2.159 UQCRFS1 Arina Puzriakova Mode of inheritance for gene: UQCRFS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.158 UQCRFS1 Arina Puzriakova Classified gene: UQCRFS1 as Amber List (moderate evidence)
Mitochondrial disorders v2.158 UQCRFS1 Arina Puzriakova Gene: uqcrfs1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v2.157 TIMMDC1 Arina Puzriakova Publications for gene: TIMMDC1 were set to 28604674
Mitochondrial disorders v2.156 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
Mitochondrial disorders v2.155 TFAM Arina Puzriakova Publications for gene: TFAM were set to 27448789
Mitochondrial disorders v2.154 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
Mitochondrial disorders v2.153 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
Mitochondrial disorders v2.152 SDHB Arina Puzriakova Phenotypes for gene: SDHB were changed from Isolated complex II deficiency; Paragangliomas 4, 115310; Pheochromocytoma, 171300; Paraganglioma and gastric stromal sarcoma, 606864; Cowden syndrome 2, 612359; Gastrointestinal stromal tumor, 606764; Mitochondrial Diseases to Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224
Mitochondrial disorders v2.151 SDHB Arina Puzriakova Publications for gene: SDHB were set to 26925370; 22972948
Mitochondrial disorders v2.150 NSUN3 Arina Puzriakova Phenotypes for gene: NSUN3 were changed from No OMIM phenotype to Combined oxidative phosphorylation deficiency 48, OMIM:619012
Mitochondrial disorders v2.149 NSUN3 Arina Puzriakova Publications for gene: NSUN3 were set to 27356879
Mitochondrial disorders v2.148 NDUFC2 Arina Puzriakova Publications for gene: NDUFC2 were set to
Mitochondrial disorders v2.147 NDUFC2 Arina Puzriakova Phenotypes for gene: NDUFC2 were changed from Isolated complex I deficiency; No OMIM phenotype to Mitochondrial complex I deficiency, nuclear type 36, OMIM:619170
Mitochondrial disorders v2.146 NDUFC2 Arina Puzriakova Classified gene: NDUFC2 as Amber List (moderate evidence)
Mitochondrial disorders v2.146 NDUFC2 Arina Puzriakova Gene: ndufc2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v2.145 NDUFC2 Arina Puzriakova Mode of inheritance for gene: NDUFC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.144 NDUFB10 Arina Puzriakova Classified gene: NDUFB10 as Amber List (moderate evidence)
Mitochondrial disorders v2.144 NDUFB10 Arina Puzriakova Gene: ndufb10 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v2.143 NDUFB10 Arina Puzriakova Publications for gene: NDUFB10 were set to 28040730
Mitochondrial disorders v2.142 NDUFB10 Arina Puzriakova Phenotypes for gene: NDUFB10 were changed from Isolated complex I deficiency; No OMIM phenotype to Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003
Mitochondrial disorders v2.141 NDUFA8 Arina Puzriakova Classified gene: NDUFA8 as Amber List (moderate evidence)
Mitochondrial disorders v2.141 NDUFA8 Arina Puzriakova Gene: ndufa8 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v2.140 NDUFA8 Arina Puzriakova Phenotypes for gene: NDUFA8 were changed from Isolated complex I deficiency; No OMIM phenotype; Mitochondrial Diseases to Mitochondrial complex I deficiency, nuclear type 37, OMIM:619272
Mitochondrial disorders v2.139 NDUFA8 Arina Puzriakova Publications for gene: NDUFA8 were set to 15576045
Mitochondrial disorders v2.138 NDUFA8 Arina Puzriakova Mode of inheritance for gene: NDUFA8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.137 NDUFA13 Arina Puzriakova Classified gene: NDUFA13 as Amber List (moderate evidence)
Mitochondrial disorders v2.137 NDUFA13 Arina Puzriakova Gene: ndufa13 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v2.136 NDUFA13 Arina Puzriakova Phenotypes for gene: NDUFA13 were changed from Isolated complex I deficiency; Mitochondrial Diseases; ?Mitochondrial complex I deficiency, nuclear type 28, 618249 to Mitochondrial complex I deficiency, nuclear type 28, OMIM:618249
Mitochondrial disorders v2.135 NDUFA13 Arina Puzriakova Publications for gene: NDUFA13 were set to 25901006
Mitochondrial disorders v2.134 NDUFA12 Arina Puzriakova Phenotypes for gene: NDUFA12 were changed from ?Mitochondrial complex I deficiency, nuclear type 23 OMIM:618244; mitochondrial complex 1 deficiency, nuclear type 23 MONDO:0032627 to Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244
Mitochondrial disorders v2.133 NDUFA12 Arina Puzriakova Publications for gene: NDUFA12 were set to 21617257; 33715266
Mitochondrial disorders v2.132 LYRM4 Arina Puzriakova Classified gene: LYRM4 as Amber List (moderate evidence)
Mitochondrial disorders v2.132 LYRM4 Arina Puzriakova Gene: lyrm4 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v2.131 LYRM4 Arina Puzriakova Phenotypes for gene: LYRM4 were changed from ?Combined oxidative phosphorylation deficiency 19, 615595 to Combined oxidative phosphorylation deficiency 19, OMIM:615595
Mitochondrial disorders v2.130 LYRM4 Arina Puzriakova Publications for gene: LYRM4 were set to
Mitochondrial disorders v2.129 ATP5G3 Arina Puzriakova Classified gene: ATP5G3 as Amber List (moderate evidence)
Mitochondrial disorders v2.129 ATP5G3 Arina Puzriakova Gene: atp5g3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v2.128 ATP5G3 Arina Puzriakova Mode of inheritance for gene: ATP5G3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disorders v2.127 ATP5G3 Arina Puzriakova Publications for gene: ATP5G3 were set to
Mitochondrial disorders v2.126 ATP5G3 Arina Puzriakova Phenotypes for gene: ATP5G3 were changed from No OMIM phenotype to Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681
Mitochondrial disorders v2.125 ATP5A1 Arina Puzriakova Publications for gene: ATP5A1 were set to 23599390; 23596069
Mitochondrial disorders v2.124 ATP5A1 Arina Puzriakova Phenotypes for gene: ATP5A1 were changed from ?Combined oxidative phosphorylation deficiency 22; ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228; Combined oxidative phosphorylation deficiency 22, OMIM: 616045
Mitochondrial disorders v2.123 UQCRC2 Arina Puzriakova reviewed gene: UQCRC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28275242, 23281071, 33865955; Phenotypes: Mitochondrial complex III deficiency, nuclear type 5, OMIM: 615160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.123 SDHA Arina Puzriakova reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: ; Publications: 27683074, 10976639, 33471299; Phenotypes: Cardiomyopathy, dilated, 1GG, OMIM: 613642, Mitochondrial complex II deficiency, nuclear type 1, OMIM: 252011, Neurodegeneration with ataxia and late-onset optic atrophy, OMIM: 619259; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v2.123 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
Mitochondrial disorders v2.123 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
Mitochondrial disorders v2.123 TFAM Arina Puzriakova reviewed gene: TFAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 32399598, 27448789, 31785789, 34647195; Phenotypes: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), OMIM: 617156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.123 SDHB Arina Puzriakova reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: 27604842, 32124427, 22972948, 26925370; Phenotypes: Mitochondrial complex II deficiency, nuclear type 4, OMIM: 619224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.123 NSUN3 Arina Puzriakova reviewed gene: NSUN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27356879, 32488845; Phenotypes: Combined oxidative phosphorylation deficiency 48, OMIM: 619012; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.123 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
Mitochondrial disorders v2.123 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
Mitochondrial disorders v2.123 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
Mitochondrial disorders v2.123 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
Mitochondrial disorders v2.123 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
Mitochondrial disorders v2.123 ATP5G3 Arina Puzriakova edited their review of gene: ATP5G3: Added comment: This gene was recently included on a gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) on behalf of GMS Mitochondrial providers, indicating that the rating should be upgraded from Amber to Green on Mitochondrial panels (R357 and R63). As there is sufficient supporting evidence, the rating should also be updated to Green on this panel at the next GMS review.; 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
Mitochondrial disorders v2.123 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
Mitochondrial disorders v2.122 UQCRC2 Arina Puzriakova Tag Q3_22_rating tag was added to gene: UQCRC2.
Mitochondrial disorders v2.122 SDHA Arina Puzriakova Tag Q3_22_MOI tag was added to gene: SDHA.
Mitochondrial disorders v2.122 UQCRFS1 Arina Puzriakova Tag Q3_22_rating tag was added to gene: UQCRFS1.
Mitochondrial disorders v2.122 TIMMDC1 Arina Puzriakova Tag Q3_22_rating tag was added to gene: TIMMDC1.
Mitochondrial disorders v2.122 TFAM Arina Puzriakova Tag Q3_22_rating tag was added to gene: TFAM.
Mitochondrial disorders v2.122 SDHB Arina Puzriakova Tag Q3_22_rating tag was added to gene: SDHB.
Mitochondrial disorders v2.122 NSUN3 Arina Puzriakova Tag Q3_22_rating tag was added to gene: NSUN3.
Mitochondrial disorders v2.122 NDUFC2 Arina Puzriakova Tag Q3_22_rating tag was added to gene: NDUFC2.
Mitochondrial disorders v2.122 NDUFB10 Arina Puzriakova Tag Q3_22_rating tag was added to gene: NDUFB10.
Mitochondrial disorders v2.122 NDUFA8 Arina Puzriakova Tag Q3_22_rating tag was added to gene: NDUFA8.
Mitochondrial disorders v2.122 NDUFA13 Arina Puzriakova Tag Q3_22_rating tag was added to gene: NDUFA13.
Mitochondrial disorders v2.122 LYRM4 Arina Puzriakova Tag Q3_22_rating tag was added to gene: LYRM4.
Mitochondrial disorders v2.122 COX6A2 Arina Puzriakova Classified gene: COX6A2 as Amber List (moderate evidence)
Mitochondrial disorders v2.122 COX6A2 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. At least two unrelated cases harbouring different biallelic variants in this gene (PMID: 31155743) and presenting with a consistent phenotype of congenital myopathy. Functional studies and two mouse models are supportive of pathogenicity (PMID: 23460811; 31155743; 32744742)
Mitochondrial disorders v2.122 COX6A2 Arina Puzriakova Gene: cox6a2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v2.121 COX6A2 Arina Puzriakova Mode of inheritance for gene: COX6A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.120 COX6A2 Arina Puzriakova Publications for gene: COX6A2 were set to
Mitochondrial disorders v2.119 COX6A2 Arina Puzriakova Phenotypes for gene: COX6A2 were changed from No OMIM phenotype to Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062
Mitochondrial disorders v2.118 COX6A2 Arina Puzriakova Tag Q3_22_rating tag was added to gene: COX6A2.
Mitochondrial disorders v2.118 ATP5G3 Arina Puzriakova Tag Q3_22_rating tag was added to gene: ATP5G3.
Mitochondrial disorders v2.118 ATP5G3 Arina Puzriakova commented on gene: ATP5G3
Mitochondrial disorders v2.118 ATP5A1 Arina Puzriakova Mode of inheritance for gene: ATP5A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v2.117 ATP5A1 Arina Puzriakova Tag Q3_22_rating tag was added to gene: ATP5A1.
Mitochondrial disorders v2.117 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.
Mitochondrial disorders v2.116 COX16 Arina Puzriakova Tag watchlist tag was added to gene: COX16.
Mitochondrial disorders v2.116 COX16 Arina Puzriakova Classified gene: COX16 as Amber List (moderate evidence)
Mitochondrial disorders v2.116 COX16 Arina Puzriakova Added comment: Comment on list classification: Rating Amber on the basis of two unrelated cases reported in literature (PMID: 33169484), although notably both harbour the same homozygous variant. Further cases would help corroborate this gene-disease association (added 'watchlist' tag)
Mitochondrial disorders v2.116 COX16 Arina Puzriakova Gene: cox16 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v2.115 COX16 Arina Puzriakova Publications for gene: COX16 were set to
Mitochondrial disorders v2.114 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
Mitochondrial disorders v2.113 COX16 Arina Puzriakova Mode of inheritance for gene: COX16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.112 POLRMT Arina Puzriakova Tag Q3_22_rating tag was added to gene: POLRMT.
Mitochondrial disorders v2.112 POLRMT Arina Puzriakova Classified gene: POLRMT as Amber List (moderate evidence)
Mitochondrial disorders v2.112 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 7 unrelated families reported in literature (PMID: 33602924) with distinct variant in this gene associated with mitochondrial dysfunction and a broad spectrum of neurological presentations.
Mitochondrial disorders v2.112 POLRMT Arina Puzriakova Gene: polrmt has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v2.111 POLRMT Arina Puzriakova Publications for gene: POLRMT were set to
Mitochondrial disorders v2.110 POLRMT Arina Puzriakova Phenotypes for gene: POLRMT were changed from No OMIM phenotype to Combined oxidative phosphorylation deficiency 55, OMIM:619743
Mitochondrial disorders v2.109 UQCR11 Arina Puzriakova commented on gene: UQCR11
Mitochondrial disorders v2.109 UQCR10 Arina Puzriakova commented on gene: UQCR10
Mitochondrial disorders v2.109 UQCC1 Arina Puzriakova commented on gene: UQCC1
Mitochondrial disorders v2.109 SDHAF4 Arina Puzriakova commented on gene: SDHAF4
Mitochondrial disorders v2.109 SDHAF3 Arina Puzriakova commented on gene: SDHAF3
Mitochondrial disorders v2.109 NDUFAF7 Arina Puzriakova commented on gene: NDUFAF7
Mitochondrial disorders v2.109 GATC Arina Puzriakova commented on gene: GATC
Mitochondrial disorders v2.109 GATB Arina Puzriakova commented on gene: GATB
Mitochondrial disorders v2.109 G6PC Arina Puzriakova commented on gene: G6PC
Mitochondrial disorders v2.109 ERAL1 Arina Puzriakova commented on gene: ERAL1
Mitochondrial disorders v2.109 COX6B2 Arina Puzriakova commented on gene: COX6B2
Mitochondrial disorders v2.109 COX19 Arina Puzriakova commented on gene: COX19
Mitochondrial disorders v2.109 COX18 Arina Puzriakova commented on gene: COX18
Mitochondrial disorders v2.109 COX17 Arina Puzriakova commented on gene: COX17
Mitochondrial disorders v2.109 COX11 Arina Puzriakova commented on gene: COX11
Mitochondrial disorders v2.109 COQ5 Arina Puzriakova commented on gene: COQ5
Mitochondrial disorders v2.109 COA4 Arina Puzriakova commented on gene: COA4
Mitochondrial disorders v2.109 COA3 Arina Puzriakova commented on gene: COA3
Mitochondrial disorders v2.109 ATPAF1 Arina Puzriakova commented on gene: ATPAF1
Mitochondrial disorders v2.109 ATP5L2 Arina Puzriakova commented on gene: ATP5L2
Mitochondrial disorders v2.109 ATP5L Arina Puzriakova commented on gene: ATP5L
Mitochondrial disorders v2.109 ATP5H Arina Puzriakova commented on gene: ATP5H
Mitochondrial disorders v2.109 ATP5F1 Arina Puzriakova commented on gene: ATP5F1
Mitochondrial disorders v2.108 UQCR11 Arina Puzriakova Source Expert Review Red was added to UQCR11.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Mitochondrial disorders v2.108 UQCR10 Arina Puzriakova Source Expert Review Red was added to UQCR10.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Mitochondrial disorders v2.108 UQCC1 Arina Puzriakova Source Expert Review Red was added to UQCC1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Mitochondrial disorders v2.108 SDHAF4 Arina Puzriakova Source Expert Review Red was added to SDHAF4.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Mitochondrial disorders v2.108 SDHAF3 Arina Puzriakova Source Expert Review Red was added to SDHAF3.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Mitochondrial disorders v2.108 POLRMT Arina Puzriakova Source Expert Review Red was added to POLRMT.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Mitochondrial disorders v2.108 NDUFAF7 Arina Puzriakova Source Expert Review Red was added to NDUFAF7.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Mitochondrial disorders v2.108 GATC Arina Puzriakova Source Expert Review Red was added to GATC.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Mitochondrial disorders v2.108 GATB Arina Puzriakova Source Expert Review Red was added to GATB.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Mitochondrial disorders v2.108 G6PC Arina Puzriakova Source Expert Review Red was added to G6PC.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Mitochondrial disorders v2.108 ERAL1 Arina Puzriakova Source Expert Review Red was added to ERAL1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Mitochondrial disorders v2.108 COX6B2 Arina Puzriakova Source Expert Review Red was added to COX6B2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Mitochondrial disorders v2.108 COX19 Arina Puzriakova Source Expert Review Red was added to COX19.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Mitochondrial disorders v2.108 COX18 Arina Puzriakova Source Expert Review Red was added to COX18.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Mitochondrial disorders v2.108 COX17 Arina Puzriakova Source Expert Review Red was added to COX17.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Mitochondrial disorders v2.108 COX16 Arina Puzriakova Source Expert Review Red was added to COX16.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Mitochondrial disorders v2.108 COX11 Arina Puzriakova Source Expert Review Red was added to COX11.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Mitochondrial disorders v2.108 COQ5 Arina Puzriakova Source Expert Review Red was added to COQ5.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Mitochondrial disorders v2.108 COA4 Arina Puzriakova Source Expert Review Red was added to COA4.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Mitochondrial disorders v2.108 COA3 Arina Puzriakova Source Expert Review Red was added to COA3.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Mitochondrial disorders v2.108 ATPAF1 Arina Puzriakova Source Expert Review Red was added to ATPAF1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Mitochondrial disorders v2.108 ATP5L2 Arina Puzriakova Source Expert Review Red was added to ATP5L2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Mitochondrial disorders v2.108 ATP5L Arina Puzriakova Source Expert Review Red was added to ATP5L.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Mitochondrial disorders v2.108 ATP5H Arina Puzriakova Source Expert Review Red was added to ATP5H.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Mitochondrial disorders v2.108 ATP5F1 Arina Puzriakova Source Expert Review Red was added to ATP5F1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Mitochondrial disorders v2.107 XPNPEP3 Eleanor Williams Tag Q2_21_expert_review tag was added to gene: XPNPEP3.
Mitochondrial disorders v2.107 PDK3 Sarah Leigh Tag Q2_22_rating tag was added to gene: PDK3.
Mitochondrial disorders v2.107 PDK3 Sarah Leigh Tag Q2_22_expert_review tag was added to gene: PDK3.
Mitochondrial disorders v2.107 ACO2 Sarah Leigh Tag Q2_22_MOI tag was added to gene: ACO2.
Mitochondrial disorders v2.107 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
Mitochondrial disorders v2.107 ACO2 Sarah Leigh reviewed gene: ACO2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v2.107 ACO2 Sarah Leigh Publications for gene: ACO2 were set to
Mitochondrial disorders v2.106 IDH1 Sarah Leigh Publications for gene: IDH1 were set to PMID: 33340416
Mitochondrial disorders v2.105 MARS2 Sarah Leigh changed review comment from: In response to Zornitza Stark's (Australian Genomics), review 20 Mar 2020: which questions if there is sufficient evidence for both Combined oxidative phosphorylation deficiency 25 (OMIM:616430) and Spastic ataxia 3, autosomal recessive (OMIM:611390) to be green on this panel based on copy number variants in three families with Spastic ataxia 3, autosomal recessive (OMIM:611390) and Combined oxidative phosphorylation deficiency 25 (OMIM:616430) in one family who was compound heterozygous for a missense and a terminating variant. No other variants appear to have bee reported in the literature to date.; to: In response to Zornitza Stark's (Australian Genomics), review 20 Mar 2020: which questions if there is sufficient evidence for both Combined oxidative phosphorylation deficiency 25 (OMIM:616430) and Spastic ataxia 3, autosomal recessive (OMIM:611390) to be green on this panel, based on copy number variants in three families with Spastic ataxia 3, autosomal recessive (OMIM:611390)(PMID: 22448145) and Combined oxidative phosphorylation deficiency 25 (OMIM:616430)(PMID: 25754315) in one family who was compound heterozygous for a missense and a terminating variant. No other variants appear to have been reported in the literature to date.
Mitochondrial disorders v2.105 MARS2 Sarah Leigh reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v2.105 COX14 Sarah Leigh changed review comment from: In response to Zornitza Stark's review, that only a single COX14 variant has been published in cases of Fatal Neonatal Lactic Acidosis (PMID:22243966), it would be beneficial to recieve confirmation from the NHS that COX14 is still used in standard diagnostic practice.; to: In response to Zornitza Stark's (Australian Genomics), review 18 Mar 2020: that only a single COX14 variant has been published in cases of Fatal Neonatal Lactic Acidosis (PMID:22243966), it would be beneficial to recieve confirmation from the NHS that COX14 is still used in standard diagnostic practice.
Mitochondrial disorders v2.105 MARS2 Sarah Leigh Tag missense was removed from gene: MARS2.
Tag Q2_22_rating tag was added to gene: MARS2.
Tag Q2_22_expert_review tag was added to gene: MARS2.
Mitochondrial disorders v2.105 MARS2 Sarah Leigh Publications for gene: MARS2 were set to PMID: 22448145; 25754315
Mitochondrial disorders v2.104 COX14 Sarah Leigh Tag Q2_21_rating was removed from gene: COX14.
Tag Q2_22_rating tag was added to gene: COX14.
Mitochondrial disorders v2.104 COX14 Sarah Leigh reviewed gene: COX14: Rating: AMBER; Mode of pathogenicity: None; Publications: 22243966; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v2.104 COX14 Sarah Leigh Tag Q2_21_rating tag was added to gene: COX14.
Tag Q2_22_expert_review tag was added to gene: COX14.
Mitochondrial disorders v2.104 COX14 Sarah Leigh Publications for gene: COX14 were set to PMID: 22243966
Mitochondrial disorders v2.103 TAZ Arina Puzriakova commented on gene: TAZ
Mitochondrial disorders v2.103 TAZ Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
Mitochondrial disorders v2.103 MT-TR Eleanor Williams Tag gene-checked tag was added to gene: MT-TR.
Mitochondrial disorders v2.103 MT-ND5 Eleanor Williams Tag gene-checked tag was added to gene: MT-ND5.
Mitochondrial disorders v2.103 MT-ND4L Eleanor Williams Tag gene-checked tag was added to gene: MT-ND4L.
Mitochondrial disorders v2.103 MT-ND4 Eleanor Williams Tag gene-checked tag was added to gene: MT-ND4.
Mitochondrial disorders v2.103 MT-ND3 Eleanor Williams Tag gene-checked tag was added to gene: MT-ND3.
Mitochondrial disorders v2.103 MT-ND2 Eleanor Williams Tag gene-checked tag was added to gene: MT-ND2.
Mitochondrial disorders v2.103 MT-ND1 Eleanor Williams Tag gene-checked tag was added to gene: MT-ND1.
Mitochondrial disorders v2.103 MT-TS1 Eleanor Williams Tag gene-checked tag was added to gene: MT-TS1.
Mitochondrial disorders v2.103 MT-TS2 Eleanor Williams Tag gene-checked tag was added to gene: MT-TS2.
Mitochondrial disorders v2.103 MT-TV Eleanor Williams Tag gene-checked tag was added to gene: MT-TV.
Mitochondrial disorders v2.103 SLC25A32 Eleanor Williams Tag gene-checked tag was added to gene: SLC25A32.
Mitochondrial disorders v2.103 MT-TW Eleanor Williams Tag gene-checked tag was added to gene: MT-TW.
Mitochondrial disorders v2.103 MT-TQ Eleanor Williams Tag gene-checked tag was added to gene: MT-TQ.
Mitochondrial disorders v2.103 MT-CYB Eleanor Williams Tag gene-checked tag was added to gene: MT-CYB.
Mitochondrial disorders v2.103 MT-CO3 Eleanor Williams Tag gene-checked tag was added to gene: MT-CO3.
Mitochondrial disorders v2.103 MT-CO2 Eleanor Williams Tag gene-checked tag was added to gene: MT-CO2.
Mitochondrial disorders v2.103 MT-CO1 Eleanor Williams Tag gene-checked tag was added to gene: MT-CO1.
Mitochondrial disorders v2.103 MT-TY Eleanor Williams Tag gene-checked tag was added to gene: MT-TY.
Mitochondrial disorders v2.103 MT-ATP8 Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP8.
Mitochondrial disorders v2.103 MT-ATP6 Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP6.
Mitochondrial disorders v2.103 TRIT1 Eleanor Williams Phenotypes for gene: TRIT1 were changed from Combined oxidative phosphorylation deficiency 35 617873 to Combined oxidative phosphorylation deficiency 35, OMIM:617873
Mitochondrial disorders v2.102 TRIT1 Eleanor Williams Tag gene-checked tag was added to gene: TRIT1.
Mitochondrial disorders v2.102 NDUFAF8 Eleanor Williams Tag gene-checked tag was added to gene: NDUFAF8.
Mitochondrial disorders v2.102 HPDL Eleanor Williams Tag gene-checked tag was added to gene: HPDL.
Mitochondrial disorders v2.102 MT-TP Arina Puzriakova Tag gene-checked tag was added to gene: MT-TP.
Mitochondrial disorders v2.102 MT-TN Arina Puzriakova Tag gene-checked tag was added to gene: MT-TN.
Mitochondrial disorders v2.102 MT-TM Arina Puzriakova Tag gene-checked tag was added to gene: MT-TM.
Mitochondrial disorders v2.102 MT-TL2 Arina Puzriakova Tag gene-checked tag was added to gene: MT-TL2.
Mitochondrial disorders v2.102 MT-TL1 Arina Puzriakova Tag gene-checked tag was added to gene: MT-TL1.
Mitochondrial disorders v2.102 MT-TK Arina Puzriakova Tag gene-checked tag was added to gene: MT-TK.
Mitochondrial disorders v2.102 MT-TI Arina Puzriakova Tag gene-checked tag was added to gene: MT-TI.
Mitochondrial disorders v2.102 MT-TH Arina Puzriakova Tag gene-checked tag was added to gene: MT-TH.
Mitochondrial disorders v2.102 MT-TG Arina Puzriakova Tag gene-checked tag was added to gene: MT-TG.
Mitochondrial disorders v2.102 MT-TF Arina Puzriakova Tag gene-checked tag was added to gene: MT-TF.
Mitochondrial disorders v2.102 MT-TE Arina Puzriakova Tag gene-checked tag was added to gene: MT-TE.
Mitochondrial disorders v2.102 MT-TD Arina Puzriakova Tag gene-checked tag was added to gene: MT-TD.
Mitochondrial disorders v2.102 MT-TC Arina Puzriakova Tag gene-checked tag was added to gene: MT-TC.
Mitochondrial disorders v2.102 MT-TA Arina Puzriakova Tag gene-checked tag was added to gene: MT-TA.
Mitochondrial disorders v2.102 MT-RNR1 Arina Puzriakova Tag gene-checked tag was added to gene: MT-RNR1.
Mitochondrial disorders v2.102 MT-ND6 Arina Puzriakova Tag gene-checked tag was added to gene: MT-ND6.
Mitochondrial disorders v2.102 FH Arina Puzriakova Phenotypes for gene: FH were changed from Fumarase deficiency, 606812 to Fumarase deficiency, OMIM:606812
Mitochondrial disorders v2.101 AFG3L2 Arina Puzriakova Phenotypes for gene: AFG3L2 were changed from Spastic ataxia 5, autosomal recessive OMIM:614487; spastic ataxia 5 MONDO:0013776; Spinocerebellar ataxia 28 OMIM:610246; spinocerebellar ataxia type 28 MONDO:0012450 to Optic atrophy 12, OMIM:618977; Spinocerebellar ataxia 28, OMIM:610246; Spastic ataxia 5, autosomal recessive, OMIM:614487
Mitochondrial disorders v2.100 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)
Mitochondrial disorders v2.99 OPA1 Arina Puzriakova Phenotypes for gene: OPA1 were changed from ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) OMIM:616896; mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) MONDO:0014820; Optic atrophy 1 OMIM:165500; autosomal dominant optic atrophy, classic form MONDO:0008134; Optic atrophy plus syndrome OMIM:125250; optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy MONDO:0007429; Behr syndrome OMIM:210000; Behr syndrome MONDO:0008858 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
Mitochondrial disorders v2.98 MFN2 Arina Puzriakova Phenotypes for gene: MFN2 were changed from Disorders of mitochondrial DNA maintenance and integrity; Charcot-Marie-Tooth disease, type 2A2, 609260; Hereditary motor and sensory neuropathy VI, 601152 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
Mitochondrial disorders v2.97 GDAP1 Arina Puzriakova Phenotypes for gene: GDAP1 were changed from Charcot Marie Tooth disease (CMT4A); Charcot-Marie-Tooth disease, axonal, type 2K; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis; Charcot-Marie-Tooth disease, recessive intermediate, A; Charcot-Marie-Tooth disease, type 4A 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
Mitochondrial disorders v2.96 PNPT1 Arina Puzriakova Phenotypes for gene: PNPT1 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 13, 614932; Deafness, autosomal recessive 70, 614934; respiratory chain disorder; hearing loss 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)
Mitochondrial disorders v2.95 GATC Sarah Leigh Phenotypes for gene: GATC were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Combined oxidative phosphorylation deficiency 42, OMIM:618839
Mitochondrial disorders v2.94 GATC Sarah Leigh Mode of inheritance for gene: GATC was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.93 ISCA-37440-Loss Eleanor Williams commented on Region: ISCA-37440-Loss
Mitochondrial disorders v2.93 ISCA-37440-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37440-Loss was changed from 80 to 60.
Mitochondrial disorders v2.92 HPDL Sarah Leigh commented on gene: HPDL: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required.
Mitochondrial disorders v2.92 FXN_GAA Sarah Leigh commented on STR: FXN_GAA: STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Mitochondrial disorders v2.92 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Mitochondrial disorders v2.92 DMPK_CTG Arina Puzriakova Classified STR: DMPK_CTG as Green List (high evidence)
Mitochondrial disorders v2.92 DMPK_CTG Arina Puzriakova Str: dmpk_ctg has been classified as Green List (High Evidence).
Mitochondrial disorders v2.89 FXN_GAA Arina Puzriakova Source NHS GMS was added to STR: FXN_GAA.
Mitochondrial disorders v2.89 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source NHS GMS was added to STR: DMPK_CTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Mitochondrial disorders v2.88 DNM2 Arina Puzriakova commented on gene: DNM2
Mitochondrial disorders v2.87 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
Mitochondrial disorders v2.86 DHTKD1 Arina Puzriakova Mode of inheritance for gene: DHTKD1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.85 HPDL Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: HPDL.
Mitochondrial disorders v2.85 UQCRC2 Zornitza Stark edited their review of gene: UQCRC2: Added comment: PMID 33865955: homozygous novel variant (p.Gly222Ala) reported. Functional studies showed impaired fibroblast respiratory chain function, western abnormalities, and altered mitochondrial ultrastructural abnormalities and of the mitochondrial network. Expression of a wild type vector in patient fibroblasts led to some restoration of function, but that part of the work was not stellar.; Changed rating: GREEN; Changed publications to: 28275242, 33865955
Mitochondrial disorders v2.85 ATP5A1 Zornitza Stark reviewed gene: ATP5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 34954817; Phenotypes: feeding intolerance, failure to thrive, hyperammonemia, lactic acidemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disorders v2.85 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
Mitochondrial disorders v2.84 XPNPEP3 Sarah Leigh Deleted their comment
Mitochondrial disorders v2.84 XPNPEP3 Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as limited Gen2Phen gene. At least three variants reported in three unrelated cases (PMID: 32660933; 20179356). Two of the variants were terminating (RCV000000069, RCV001554332) and the third variant was a missense variant (RCV000000068), that seems to activate a cryptic splice site; RT-PCR of lymphoblastoid cells showed that this resulted in the inclusion of intronic bases and a frameshift. Cilia-related function was examined by the suppression of zebrafish xpnpep3, resulting in phenotypes reminiscent of ciliopathy morphants, this effect was rescued by human XPNPEP3 that was devoid of a mitochondrial localization signal (PMID: 20179356).; to: Associated with relevant phenotype in OMIM and as limited Gen2Phen gene. At least three variants were reported in three unrelated cases (PMID: 32660933; 20179356). Two of the variants were terminating (RCV000000069, RCV001554332) and the third was a missense variant (RCV000000068), that seems to activate a cryptic splice site; RT-PCR of lymphoblastoid cells showed that this resulted in the inclusion of intronic bases and a frameshift. Cilia-related function was examined by the suppression of zebrafish xpnpep3, resulting in phenotypes reminiscent of ciliopathy morphants, this effect was rescued by human XPNPEP3 that was devoid of a mitochondrial localization signal (PMID: 20179356).
Mitochondrial disorders v2.84 XPNPEP3 Sarah Leigh changed review comment from: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review, however, Zornitza Stark (Australian Genomics) has commented that the phenotype is not strickly a mitochondrial disorder.; to: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review, however, Zornitza Stark (Australian Genomics) has commented that the phenotype is not strictly a mitochondrial disorder.
Mitochondrial disorders v2.84 XPNPEP3 Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as limited Gen2Phen gene. At least three variants reported in three unrelated cases (PMID: 32660933; 20179356). Two of the variants were terminating (RCV000000069, RCV001554332) and the third variant was a missense variant (RCV000000068), that seems to activate a cryptic splice site; RT-PCR of lymphoblastoid cells showed that this resulted in the inclusion of intronic bases and a frameshift.; to: Associated with relevant phenotype in OMIM and as limited Gen2Phen gene. At least three variants reported in three unrelated cases (PMID: 32660933; 20179356). Two of the variants were terminating (RCV000000069, RCV001554332) and the third variant was a missense variant (RCV000000068), that seems to activate a cryptic splice site; RT-PCR of lymphoblastoid cells showed that this resulted in the inclusion of intronic bases and a frameshift. Cilia-related function was examined by the suppression of zebrafish xpnpep3, resulting in phenotypes reminiscent of ciliopathy morphants, this effect was rescued by human XPNPEP3 that was devoid of a mitochondrial localization signal (PMID: 20179356).
Mitochondrial disorders v2.84 XPNPEP3 Sarah Leigh edited their review of gene: XPNPEP3: Added comment: Associated with relevant phenotype in OMIM and as limited Gen2Phen gene. At least three variants reported in three unrelated cases (PMID: 32660933; 20179356). Two of the variants were terminating (RCV000000069, RCV001554332) and the third variant was a missense variant (RCV000000068), that seems to activate a cryptic splice site; RT-PCR of lymphoblastoid cells showed that this resulted in the inclusion of intronic bases and a frameshift.; Changed rating: AMBER
Mitochondrial disorders v2.84 XPNPEP3 Sarah Leigh Classified gene: XPNPEP3 as Amber List (moderate evidence)
Mitochondrial disorders v2.84 XPNPEP3 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review, however, Zornitza Stark (Australian Genomics) has commented that the phenotype is not strickly a mitochondrial disorder.
Mitochondrial disorders v2.84 XPNPEP3 Sarah Leigh Gene: xpnpep3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v2.84 XPNPEP3 Sarah Leigh Classified gene: XPNPEP3 as Amber List (moderate evidence)
Mitochondrial disorders v2.84 XPNPEP3 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review, however, Zornitza Stark (Australian Genomics) has commented that the phenotype is not strickly a mitochondrial disorder.
Mitochondrial disorders v2.84 XPNPEP3 Sarah Leigh Gene: xpnpep3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v2.83 XPNPEP3 Sarah Leigh Tag Q2_21_phenotype tag was added to gene: XPNPEP3.
Tag Q1_22_rating tag was added to gene: XPNPEP3.
Mitochondrial disorders v2.83 XPNPEP3 Sarah Leigh Phenotypes for gene: XPNPEP3 were changed from nephronophthisis-like nephropathy to Nephronophthisis-like nephropathy 1 OMIM:613159; nephronophthisis-like nephropathy 1 MONDO:0013163
Mitochondrial disorders v2.82 XPNPEP3 Sarah Leigh Publications for gene: XPNPEP3 were set to 20179356
Mitochondrial disorders v2.81 XPNPEP3 Sarah Leigh Publications for gene: XPNPEP3 were set to PMID: 20179356
Mitochondrial disorders v2.80 PDK3 Arina Puzriakova Publications for gene: PDK3 were set to
Mitochondrial disorders v2.79 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)
Mitochondrial disorders v2.79 PDK3 Arina Puzriakova Tag Q1_22_phenotype tag was added to gene: PDK3.
Mitochondrial disorders v2.79 PDK3 Arina Puzriakova Mode of inheritance for gene: PDK3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mitochondrial disorders v2.78 SSBP1 Sarah Leigh Tag Q1_22_MOI was removed from gene: SSBP1.
Mitochondrial disorders v2.78 SSBP1 Sarah Leigh edited their review of gene: SSBP1: Added comment: Associated with relevant phenotype in OMIM, but not associated with a phenotype in Gen2Phen.
SSBP1 is involved in mitochondrial biogenesis (PMID: 7789991) and variants in it are associated with mtDNA maintenance defects and mitochondrial disease. At least six heterozygous SSBP1 variants have been reported and two biallelic cases have also been reported; c.380G>A p.(Arg127Gln)(MAF of 0.00004) was found with c.394A>G p.(Ile132Val)(PMID: 34905022), which had previously been found as a homozygote in a single case (PMID: 31550240).; Changed rating: GREEN
Mitochondrial disorders v2.78 SSBP1 Sarah Leigh Classified gene: SSBP1 as Amber List (moderate evidence)
Mitochondrial disorders v2.78 SSBP1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Mitochondrial disorders v2.78 SSBP1 Sarah Leigh Gene: ssbp1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v2.77 SSBP1 Sarah Leigh Tag Q1_22_rating tag was added to gene: SSBP1.
Tag Q1_22_MOI tag was added to gene: SSBP1.
Mitochondrial disorders v2.77 SSBP1 Sarah Leigh Added comment: Comment on mode of inheritance: PMID: 34905022 reports a case of SSBP1-disease with biallelic SSBP1 variants.
Mitochondrial disorders v2.77 SSBP1 Sarah Leigh Mode of inheritance for gene: SSBP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v2.76 SSBP1 Sarah Leigh Mode of inheritance for gene: SSBP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v2.75 SSBP1 Sarah Leigh Phenotypes for gene: SSBP1 were changed from No OMIM phenotype to Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510
Mitochondrial disorders v2.74 SSBP1 Sarah Leigh Publications for gene: SSBP1 were set to 29182774
Mitochondrial disorders v2.73 TARS2 Sarah Leigh Phenotypes for gene: TARS2 were changed from Combined oxidative phosphorylation deficiency 21 OMIM:615918; combined oxidative phosphorylation defect type 21MONDO:0014398 to Combined oxidative phosphorylation deficiency 21 OMIM:615918; combined oxidative phosphorylation defect type 21 MONDO:0014398
Mitochondrial disorders v2.72 TARS2 Sarah Leigh Phenotypes for gene: TARS2 were changed from Combined oxidative phosphorylation deficiency 21 OMIM:615918; combined oxidative phosphorylation defect type 21MONDO:0014398 to Combined oxidative phosphorylation deficiency 21 OMIM:615918; combined oxidative phosphorylation defect type 21MONDO:0014398
Mitochondrial disorders v2.72 TARS2 Sarah Leigh Phenotypes for gene: TARS2 were changed from Combined oxidative phosphorylation deficiency 21 OMIM:615918 to Combined oxidative phosphorylation deficiency 21 OMIM:615918; combined oxidative phosphorylation defect type 21MONDO:0014398
Mitochondrial disorders v2.71 TARS2 Sarah Leigh edited their review of gene: TARS2: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 11 variants reported in at least 7 unrelated cases with a varied phenotype, including encephalomyopathy, epilepsy, dystonia, hyperhidrosis and severe hearing impairment.; Changed rating: GREEN
Mitochondrial disorders v2.71 TARS2 Sarah Leigh Tag Q4_21_rating tag was added to gene: TARS2.
Mitochondrial disorders v2.71 TARS2 Sarah Leigh Classified gene: TARS2 as Amber List (moderate evidence)
Mitochondrial disorders v2.71 TARS2 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Mitochondrial disorders v2.71 TARS2 Sarah Leigh Gene: tars2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v2.70 TARS2 Sarah Leigh Phenotypes for gene: TARS2 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); ?Combined oxidative phosphorylation deficiency 21, 615918 to Combined oxidative phosphorylation deficiency 21 OMIM:615918
Mitochondrial disorders v2.69 TARS2 Sarah Leigh Added comment: Comment on publications: PMID: 24827421 - Compound heterozygous variants in TARS2 were reported in the proband and his affected sister - a missense mutation (c.845C>T, p.Pro282Leu) and a nucleotide change in position +3 of intron 6 (g.4255A>G, c.695+3A>G). The parents carrying one of the variants, one unaffected sister carried one variant, and the other unaffected sibling carried neither.
Mitochondrial disorders v2.69 TARS2 Sarah Leigh Publications for gene: TARS2 were set to PMID: 24827421 - Compound heterozygous variants in TARS2 were reported in the proband and his affected sister - a missense mutation (c.845C>T, p.Pro282Leu) and a nucleotide change in position +3 of intron 6 (g.4255A>G, c.695+3A>G). The parents carrying one of the variants, one unaffected sister carried one variant, and the other unaffected sibling carried neither.
Mitochondrial disorders v2.68 OGDH Sarah Leigh Phenotypes for gene: OGDH were changed from Alpha-ketoglutarate dehydrogenase deficiency, 203740 (1) to Alpha-ketoglutarate dehydrogenase deficiency OMIM:203740; oxoglutaricaciduria MONDO:0008759
Mitochondrial disorders v2.67 OGDH Sarah Leigh Mode of inheritance for gene: OGDH was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.66 OGDH Sarah Leigh Classified gene: OGDH as Amber List (moderate evidence)
Mitochondrial disorders v2.66 OGDH Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM. Limited association with OGDH-related mitochondrial disorder in Gen2Phen. PMID: 32383294 reported a single biallelic variant in two sibblings. Functional studies were performed on patient fibroblasts, which demonstrated reduced expression of OGDH and a reduced OGDH complex activity in comparison to the wild type. Drosophila models were constructed which supported the role of the OGDH variant in early developmental lethality.
Mitochondrial disorders v2.66 OGDH Sarah Leigh Gene: ogdh has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v2.65 OGDH Sarah Leigh Publications for gene: OGDH were set to
Mitochondrial disorders v2.64 KIAA0391 Sarah Leigh commented on gene: KIAA0391: PRORP is the HGNC approved gene name for KIAA0391 https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19958
Mitochondrial disorders v2.64 KIAA0391 Sarah Leigh Tag Q4_21_rating tag was added to gene: KIAA0391.
Mitochondrial disorders v2.64 KIAA0391 Sarah Leigh Classified gene: KIAA0391 as Amber List (moderate evidence)
Mitochondrial disorders v2.64 KIAA0391 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Mitochondrial disorders v2.64 KIAA0391 Sarah Leigh Gene: kiaa0391 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v2.63 KIAA0391 Sarah Leigh reviewed gene: KIAA0391: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome clinical spectrum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.63 KIAA0391 Sarah Leigh Tag new-gene-name tag was added to gene: KIAA0391.
Mitochondrial disorders v2.63 KIAA0391 Zornitza Stark gene: KIAA0391 was added
gene: KIAA0391 was added to Mitochondrial disorders. Sources: Literature
Mode of inheritance for gene: KIAA0391 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0391 were set to 34715011
Phenotypes for gene: KIAA0391 were set to Hearing loss, intellectual disability
Review for gene: KIAA0391 was set to GREEN
gene: KIAA0391 was marked as current diagnostic
Added comment: Four unrelated families with multisystem disease associated with bi-allelic variants in PRORP, HGNC approved name is KIAA0391. Affected individuals presented with variable phenotypes comprising sensorineural hearing loss, primary ovarian insufficiency, developmental delay, and brain white matter changes.

-1 consanguineous family with homozygous missense in 3 affected sisters, het parents unaffected. Siblings had profound bilateral SNHL in infancy. In teens developed primary amenorrhea/Perrault syndrome, and hypergonadotropic hypogonadism.
-1 unrelated male with compound het missense, each inherited from an unaffected parent. Hearing loss noted at 3, diagnosed at 5.
-1 unrelated male compound het for a missense and a frameshift. appendicular hypertonia in infancy, mild dysmorphism. Severe global dev delay at 20 months. Normal hearing at 18 months, but at 3 years had bilateral SNHL.
-an affected mother and her 2 affected children (son and daughter), homozygous for a missense. Father is heterozygous and unaffected. Son has psychotic disorder, autistic traits. Sister had intrauterine growth retardation, global developmental delay, and seizures in the first years of life. Mother presented with retrobulbar optic neuritis and tonic pupil at 39 years of age, then with asthenia, myalgias, memory loss, and frequent headaches.
Sources: Literature
Mitochondrial disorders v2.63 TARS2 Zornitza Stark reviewed gene: TARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33153448, 24827421, 34508595; Phenotypes: Combined oxidative phosphorylation deficiency 21 - 615918; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.63 OGDH Zornitza Stark reviewed gene: OGDH: Rating: AMBER; Mode of pathogenicity: None; Publications: 32383294; Phenotypes: Developmental delay, ataxia, seizure, raised lactate; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.63 IBA57 Arina Puzriakova Phenotypes for gene: IBA57 were changed from ?Multiple mitochondrial dysfunctions syndrome 3, 615330; ?Spastic paraplegia 74, autosomal recessive to Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330; ?Spastic paraplegia 74, autosomal recessive, OMIM:616451
Mitochondrial disorders v2.62 CLPB Arina Puzriakova Tag Q4_21_MOI tag was added to gene: CLPB.
Mitochondrial disorders v2.62 CLPB Arina Puzriakova Publications for gene: CLPB were set to PMID: 25595726; PMID: 25597510; PMID: 25597511; PMID: 25650066
Mitochondrial disorders v2.61 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.
Mitochondrial disorders v2.61 CLPB Arina Puzriakova Mode of inheritance for gene: CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.60 CLPB Arina Puzriakova Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria with the following: cataract, renal cysts and nephrocalcinosis; progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder; cataract, neutropenia, epilepsy; congenital microcephaly and severe encephalopathy to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271
Mitochondrial disorders v2.59 FXN_GAA Arina Puzriakova Phenotypes for STR: FXN_GAA were changed from Friedreich ataxia 229300 to Friedreich ataxia, OMIM:229300; Friedreich ataxia with retained reflexes, OMIM:229300
Mitochondrial disorders v2.58 FXN Arina Puzriakova Phenotypes for gene: FXN were changed from Friedreich ataxia, 229300; Friedreich ataxia with retained reflexes, 229300 to Friedreich ataxia, OMIM:229300; Friedreich ataxia with retained reflexes, OMIM:229300
Mitochondrial disorders v2.57 FXN Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: FXN.
Mitochondrial disorders v2.57 HTT Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Mitochondrial disorders v2.57 HTT Arina Puzriakova Mode of inheritance for gene: HTT was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Mitochondrial disorders v2.56 HTT Arina Puzriakova Phenotypes for gene: HTT were changed from Huntington disease, 143100 to Huntington disease, OMIM:143100
Mitochondrial disorders v2.55 HTT Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: HTT.
Tag currently-ngs-unreportable tag was added to gene: HTT.
Mitochondrial disorders v2.55 DMPK_CTG Arina Puzriakova Phenotypes for STR: DMPK_CTG were changed from Myotonic dystrophy 1 160900 to Myotonic dystrophy 1, OMIM:160900
Mitochondrial disorders v2.54 ACAT2 Arina Puzriakova Phenotypes for gene: ACAT2 were changed from Increased serum lactate and pyruvate; high levels of ketones to ?ACAT2 deficiency, OMIM:614055; Increased serum lactate and pyruvate; High levels of ketones; Low levels of cytosolic acetoacetyl-CoA thiolase; Hypotonia; Severe developmental delay
Mitochondrial disorders v2.53 ACAT2 Arina Puzriakova Mode of inheritance for gene: ACAT2 was changed from Other to Unknown
Mitochondrial disorders v2.52 ACAT2 Arina Puzriakova Classified gene: ACAT2 as Red List (low evidence)
Mitochondrial disorders v2.52 ACAT2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Andžela Lazdāne. Currently associated with a provisional phenotype in OMIM (?ACAT2 deficiency, OMIM:614055) and not yet listed in G2P. In the 2 cases reported to date (PMIDs: 20597, 6150136), diagnoses were made based on molecular rather than genetic findings. Rating Red as at present there is no published evidence of deleterious variants in the ACAT2 gene leading to this phenotype.
Mitochondrial disorders v2.52 ACAT2 Arina Puzriakova Gene: acat2 has been classified as Red List (Low Evidence).
Mitochondrial disorders v2.51 C12orf65 Arina Puzriakova Phenotypes for gene: C12orf65 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); 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
Mitochondrial disorders v2.50 SERAC1 Arina Puzriakova Phenotypes for gene: SERAC1 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739
Mitochondrial disorders v2.49 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
Mitochondrial disorders v2.48 C2orf69 Zornitza Stark gene: C2orf69 was added
gene: C2orf69 was added to Mitochondrial disorders. Sources: Literature
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 (COXPD53), MIM#619423
Review for gene: C2orf69 was set to GREEN
gene: C2orf69 was marked as current diagnostic
Added comment: PMID 34038740: 20 affected children from 8 unrelated families reported, presenting with fatal syndrome consisting of severe autoinflammation and progredient leukoencephalopathy with recurrent seizures; 12 of these subjects, whose DNA was available, segregated homozygous loss-of-function C2orf69 variants. Endogenous C2ORF69 was found to be (1) loosely bound to mitochondria, (2) affects mitochondrial membrane potential and oxidative respiration in cultured neurons, and (3) controls the levels of the glycogen branching enzyme 1 (GBE1) consistent with a glycogen-storage-associated mitochondriopathy. Zebrafish model.

PMID 33945503: 8 individuals from 5 families reported with muscle hypotonia, developmental delay, progressive microcephaly, and brain MRI abnormalities. Age at onset ranged from birth to 6 months of age. Six patients had vision impairment, liver abnormalities, inflammation/inflammatory arthritis, and 5 patients had seizures.
Sources: Literature
Mitochondrial disorders v2.48 COQ2 Ivone Leong Added comment: Comment on phenotypes: Previously:
Disorders of ubiquinone metabolism and biosynthesis;Coenzyme Q10 deficiency, primary, 1, 607426;Coenzyme Q10 deficiency;{Multiple system atrophy, susceptibility to}, 146500
Mitochondrial disorders v2.48 COQ2 Ivone Leong Phenotypes for gene: COQ2 were changed from Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 1, 607426; Coenzyme Q10 deficiency; {Multiple system atrophy, susceptibility to}, 146500 to Coenzyme Q10 deficiency, primary, 1, OMIM:607426
Mitochondrial disorders v2.47 ACSL4 Andžela Lazdāne gene: ACSL4 was added
gene: ACSL4 was added to Mitochondrial disorders. Sources: Literature
Mode of inheritance for gene: ACSL4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ACSL4 were set to PMID: 33340416
Phenotypes for gene: ACSL4 were set to Long-chain fatty acid-CoA ligase 4 deficiency; Mental retardation; Autistic features; Intellectual disability
Review for gene: ACSL4 was set to GREEN
Added comment: X-linked intellectual disability type 63.
The gene is included in international classification of inherited metabolic disorders (ICIMD), Disorders of lipid metabolism.
IEM Nosology Group (IEMbase): Disorders of cytoplasmic triglyceride metabolism.
Sources: Literature
Mitochondrial disorders v2.47 CMPK2 Andžela Lazdāne gene: CMPK2 was added
gene: CMPK2 was added to Mitochondrial disorders. Sources: Literature
Mode of inheritance for gene: CMPK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CMPK2 were set to PMID: 33340416
Phenotypes for gene: CMPK2 were set to Mitochondrial UMP-CMP kinase 2 deficiency; Developmental delay; Failure to thrive
Review for gene: CMPK2 was set to GREEN
Added comment: Mitochondrial UMP-CMP kinase is a component of the salvage pathway for nucleotide synthesis.
IEM Nosology Group (IEMbase): Disorders of mitochondrial DNA depletion, multiple deletion, or intergenomic communication.
The CMPK2 gene is included in International classification of inherited metabolic disorders (ICIMD), Disorders of mitochondrial DNA maintenance and replication.
Sources: Literature
Mitochondrial disorders v2.47 IDH1 Andžela Lazdāne edited their review of gene: IDH1: Changed rating: AMBER; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.47 ACAT2 Andžela Lazdāne edited their review of gene: ACAT2: Changed rating: AMBER; Changed mode of inheritance: Unknown
Mitochondrial disorders v2.47 IDH1 Andžela Lazdāne changed review comment from: Cytosolic NADP+-dependent isocitrate dehydrogenase 1 superactivity. IDH1 is a dimeric cytosolic NADP-dependent isocitrate dehydrogenase (EC 1.1.1.42) that catalyzes decarboxylation of isocitrate into alpha-ketoglutarate.
The IDH1 gene is included in International classification of inherited metabolic disorders (ICIMD), Disorders of the Krebs cycle.
Sources: Literature; to: Cytosolic NADP+-dependent isocitrate dehydrogenase 1 superactivity. IDH1 is a dimeric cytosolic NADP-dependent isocitrate dehydrogenase (EC 1.1.1.42) that catalyzes decarboxylation of isocitrate into alpha-ketoglutarate.
The IDH1 gene is included in International classification of inherited metabolic disorders (ICIMD), Disorders of the Krebs cycle.
Sources: Literature
Mitochondrial disorders v2.47 IDH1 Andžela Lazdāne gene: IDH1 was added
gene: IDH1 was added to Mitochondrial disorders. Sources: Literature
Mode of inheritance for gene: IDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IDH1 were set to PMID: 33340416
Phenotypes for gene: IDH1 were set to Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Review for gene: IDH1 was set to GREEN
Added comment: Cytosolic NADP+-dependent isocitrate dehydrogenase 1 superactivity. IDH1 is a dimeric cytosolic NADP-dependent isocitrate dehydrogenase (EC 1.1.1.42) that catalyzes decarboxylation of isocitrate into alpha-ketoglutarate.
The IDH1 gene is included in International classification of inherited metabolic disorders (ICIMD), Disorders of the Krebs cycle.
Sources: Literature
Mitochondrial disorders v2.47 SLC13A3 Andžela Lazdāne gene: SLC13A3 was added
gene: SLC13A3 was added to Mitochondrial disorders. Sources: Literature
Mode of inheritance for gene: SLC13A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC13A3 were set to PMID: 33340416; PMID: 30635937
Phenotypes for gene: SLC13A3 were set to Sodium dicarboxylate cotransporter 3 deficiency; Increased urinary dicarboxylic acids, alpha-ketoglutarate, fumarate, N-acetylaspartate; Encephalopathy; Ataxia
Penetrance for gene: SLC13A3 were set to Complete
Review for gene: SLC13A3 was set to GREEN
Added comment: Based on the literature SLC13A3 gene variants cause acute reversible leukoencephalopathy and alpha-ketoglutarate accumulation. Patient had hypotonia, abnormal movements, and dysarthria associated with white matter abnormalities and increased urinary alpha-ketoglutarate and NAA. CSF analysis showed increased lactate. Laboratory studies showed increased urinary excretion of alpha-ketoglutarate, succinate, fumarate, and N-acetylaspartate (NAA). These organic acids were also increased in the cerebrospinal fluid (CSF).

The SLC13A3 gene is included an international classification of inherited metabolic disorders (ICIMD), Disorders of the Krebs cycle.
Sources: Literature
Mitochondrial disorders v2.47 SLC13A5 Andžela Lazdāne gene: SLC13A5 was added
gene: SLC13A5 was added to Mitochondrial disorders. Sources: Literature
Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC13A5 were set to PMID: 33340416
Phenotypes for gene: SLC13A5 were set to Plasma membrane citrate transporter deficiency; Epileptic encephalopathy; Delayed psychomotor development.
Penetrance for gene: SLC13A5 were set to Complete
Review for gene: SLC13A5 was set to GREEN
Added comment: The SLC13A5 gene encodes a tricarboxylate plasma transporter with a preference for citrate. The SLC13A5 gene should be include in Mitochondrial disorder panel because it is included in International Classification of Inborn Metabolic Disorders (ICIMD), Disorders of the Krebs cycle.
Sources: Literature
Mitochondrial disorders v2.47 ACAT2 Andžela Lazdāne edited their review of gene: ACAT2: Changed rating: GREEN
Mitochondrial disorders v2.47 ACAT2 Andžela Lazdāne changed review comment from: Cytosolic acetoacetyl-CoA thiolase deficiency.
Inheritance - isolated cases.
Based on literature the ACAT2 gene encodes cytosolic acetoacetyl-CoA thiolase, which is important in the utilization of ketone bodies. ACAT2 gene can cause disorders of ketone body metabolism. ACAT2 gene is included in international classification of inherited metabolic
disorders (ICIMD).; to: Cytosolic acetoacetyl-CoA thiolase deficiency.
Inheritance - isolated cases.
Based on literature the ACAT2 gene encodes cytosolic acetoacetyl-CoA thiolase, which is important in the utilization of ketone bodies. ACAT2 gene can cause disorders of ketone body metabolism. ACAT2 gene is included in international classification of inherited metabolic
disorders (ICIMD).
Mitochondrial disorders v2.47 ACAT2 Andžela Lazdāne reviewed gene: ACAT2: Rating: ; Mode of pathogenicity: None; Publications: PMID:33340416, PMID:20597, PMID:6150136; Phenotypes: Increased serum lactate and pyruvate, High levels of ketones, Low levels of cytosolic acetoacetyl-CoA thiolase, Hypotonia, Severe developmental delay; Mode of inheritance: None
Mitochondrial disorders v2.47 ACAT2 Andžela Lazdāne Deleted their review
Mitochondrial disorders v2.47 ACAT2 Andžela Lazdāne Deleted their comment
Mitochondrial disorders v2.47 ACAT2 Andžela Lazdāne gene: ACAT2 was added
gene: ACAT2 was added to Mitochondrial disorders. Sources: Literature
Mode of inheritance for gene: ACAT2 was set to Other
Publications for gene: ACAT2 were set to 33340416; 20597; 6150136
Phenotypes for gene: ACAT2 were set to Increased serum lactate and pyruvate; high levels of ketones
Review for gene: ACAT2 was set to GREEN
Added comment: Cytosolic acetoacetyl-CoA thiolase deficiency
Inheritance - isolated cases
Sources: Literature
Mitochondrial disorders v2.47 NDUFAF8 Ivone Leong Phenotypes for gene: NDUFAF8 were changed from No OMIM phenotype to Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776
Mitochondrial disorders v2.46 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
Mitochondrial disorders v2.45 SLC25A10 Arina Puzriakova Mode of inheritance for gene: SLC25A10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.44 SLC25A10 Arina Puzriakova Phenotypes for gene: SLC25A10 were changed from to ?Mitochondrial DNA depletion syndrome 19, OMIM:618972
Mitochondrial disorders v2.43 MRM2 Arina Puzriakova Phenotypes for gene: MRM2 were changed from No OMIM phenotype to ?Mitochondrial DNA depletion syndrome 17, OMIM:618567
Mitochondrial disorders v2.42 NAXD Ivone Leong Tag Q2_21_rating tag was added to gene: NAXD.
Mitochondrial disorders v2.42 NAXD Ivone Leong Classified gene: NAXD as Amber List (moderate evidence)
Mitochondrial disorders v2.42 NAXD Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. There are 2 additional cases reported. This gene should be promoted to Green at the next review.
Mitochondrial disorders v2.42 NAXD Ivone Leong Gene: naxd has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v2.41 NAXD Ivone Leong Publications for gene: NAXD were set to 29903433; 30576410
Mitochondrial disorders v2.40 APOPT1 Arina Puzriakova Phenotypes for gene: APOPT1 were changed from Isolated complex IV deficiency; Mitochondrial complex IV deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061; Isolated complex IV deficiency
Mitochondrial disorders v2.39 NFU1 Arina Puzriakova Phenotypes for gene: NFU1 were changed from Multiple mitochondrial dysfunctions syndrome 1 to Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711
Mitochondrial disorders v2.38 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
Mitochondrial disorders v2.37 LIG3 Ivone Leong Entity copied from White matter disorders and cerebral calcification - narrow panel v1.100
Mitochondrial disorders v2.37 LIG3 Ivone Leong gene: LIG3 was added
gene: LIG3 was added to Mitochondrial disorders. 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
Mitochondrial disorders v2.36 AFG3L2 Sarah Leigh Added comment: Comment on phenotypes: Disorders of mitochondrial DNA maintenance and integrity
Mitochondrial disorders v2.36 AFG3L2 Sarah Leigh Phenotypes for gene: AFG3L2 were changed from Disorders of mitochondrial DNA maintenance and integrity; Spinocerebellar ataxia 28, 610246; Ataxia, spastic, 5, autosomal recessive, 614487 to Spastic ataxia 5, autosomal recessive OMIM:614487; spastic ataxia 5 MONDO:0013776; Spinocerebellar ataxia 28 OMIM:610246; spinocerebellar ataxia type 28 MONDO:0012450
Mitochondrial disorders v2.35 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
Mitochondrial disorders v2.34 OPA1 Sarah Leigh Added comment: Comment on phenotypes: Disorders of mitochondrial DNA maintenance and integrity;{Glaucoma, normal tension, susceptibility to}, 606657
Mitochondrial disorders v2.34 OPA1 Sarah Leigh Phenotypes for gene: OPA1 were changed from Disorders of mitochondrial DNA maintenance and integrity; Optic atrophy 1, 165500; {Glaucoma, normal tension, susceptibility to}, 606657; Optic atrophy plus syndrome, 125250; Mitochondrial DNA Depletion Syndrome; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions; Optic atrophy 1, 165500 to ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) OMIM:616896; mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) MONDO:0014820; Optic atrophy 1 OMIM:165500; autosomal dominant optic atrophy, classic form MONDO:0008134; Optic atrophy plus syndrome OMIM:125250; optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy MONDO:0007429; Behr syndrome OMIM:210000; Behr syndrome MONDO:0008858
Mitochondrial disorders v2.33 OPA1 Sarah Leigh Publications for gene: OPA1 were set to
Mitochondrial disorders v2.32 MTFMT Sarah Leigh Added comment: Comment on phenotypes: Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Mitochondrial disorders v2.32 MTFMT Sarah Leigh Phenotypes for gene: MTFMT were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); 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
Mitochondrial disorders v2.31 NDUFB7 Sarah Leigh Added comment: Comment on phenotypes: No OMIM or MONDO phenotype (21/4/2021)
Mitochondrial disorders v2.31 NDUFB7 Sarah Leigh Phenotypes for gene: NDUFB7 were changed from Isolated complex I deficiency; No OMIM phenotype to Congenital lactic acidosis; hypertrophic cardiomyopathy
Mitochondrial disorders v2.30 NDUFB7 Sarah Leigh Tag watchlist tag was added to gene: NDUFB7.
Mitochondrial disorders v2.30 NDUFB7 Sarah Leigh Mode of inheritance for gene: NDUFB7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.29 NDUFB7 Sarah Leigh Classified gene: NDUFB7 as Amber List (moderate evidence)
Mitochondrial disorders v2.29 NDUFB7 Sarah Leigh Added comment: Comment on list classification: Not associated with relevant phenotype in OMIM or Gen2Phen. At least one biallelic splicing variant reported. RNA sequencing revealed that this variant disrupted normal splicing (PMID 33502047) and human knock-out cells have shown that NDUFB7 is one of the subunits strictly required for assembly of a functional mitochondrial complex I subunit, which is essential for cell viability (PMID 27626371).
Mitochondrial disorders v2.29 NDUFB7 Sarah Leigh Gene: ndufb7 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v2.28 NDUFB7 Sarah Leigh Publications for gene: NDUFB7 were set to
Mitochondrial disorders v2.27 NDUFA12 Sarah Leigh edited their review of gene: NDUFA12: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least five variants reported in five unrelated cases, together with supportive studies. Phenotypic variability was evident in the cases reported (PMID: 21617257; 33715266).; Changed rating: GREEN
Mitochondrial disorders v2.27 NDUFA12 Sarah Leigh Classified gene: NDUFA12 as Amber List (moderate evidence)
Mitochondrial disorders v2.27 NDUFA12 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Mitochondrial disorders v2.27 NDUFA12 Sarah Leigh Gene: ndufa12 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v2.26 NDUFA12 Sarah Leigh Tag Q2_21_rating tag was added to gene: NDUFA12.
Mitochondrial disorders v2.26 NDUFA12 Sarah Leigh Added comment: Comment on phenotypes: Isolated complex I deficiency;
Mitochondrial disorders v2.26 NDUFA12 Sarah Leigh Phenotypes for gene: NDUFA12 were changed from Isolated complex I deficiency; ?Mitochondrial complex I deficiency, nuclear type 23, 618244 to ?Mitochondrial complex I deficiency, nuclear type 23 OMIM:618244; mitochondrial complex 1 deficiency, nuclear type 23 MONDO:0032627
Mitochondrial disorders v2.25 NDUFA12 Sarah Leigh Publications for gene: NDUFA12 were set to 21617257
Mitochondrial disorders v2.24 NDUFA12 Zornitza Stark reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33715266; Phenotypes: Mitochondrial complex I deficiency, nuclear type 23 MIM#618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.24 NDUFB7 Zornitza Stark reviewed gene: NDUFB7: Rating: AMBER; Mode of pathogenicity: None; Publications: 33502047, 27626371; Phenotypes: Congenital lactic acidosis, hypertrophic cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.24 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
Mitochondrial disorders v2.23 FBXL4 Sarah Leigh Added comment: Comment on phenotypes: Disorders of mitochondrial DNA maintenance and integrity;Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471;fatal encephalopathy, lactic acidosis, and severe MTDNA depletion in muscle.
Mitochondrial disorders v2.23 FBXL4 Sarah Leigh Phenotypes for gene: FBXL4 were changed from Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471; fatal encephalopathy, lactic acidosis, and severe MTDNA depletion in muscle. to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471; mitochondrial DNA depletion syndrome 13 MONDO:0014198
Mitochondrial disorders v2.22 COA7 Sarah Leigh Phenotypes for gene: COA7 were changed from to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387; spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
Mitochondrial disorders v2.21 LARS2 Arina Puzriakova Phenotypes for gene: LARS2 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Perrault syndrome 4, 615300; Perrault syndrome 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
Mitochondrial disorders v2.20 POLRMT Zornitza Stark Deleted their comment
Mitochondrial disorders v2.20 POLRMT Zornitza Stark edited their review of gene: POLRMT: Added comment: 8 individuals from 7 families reported. 5 families with bi-allelic variants and 2 with heterozygous variants. Affected individuals presented with global developmental delay, hypotonia, short stature, and speech/intellectual disability in childhood; one subject displayed an indolent progressive external ophthalmoplegia phenotype.; Changed rating: GREEN; Changed publications: 33602924; Changed phenotypes: Mitochondrial disorder, intellectual disability, hypotonia; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Set current diagnostic: yes
Mitochondrial disorders v2.20 APOO Arina Puzriakova gene: APOO was added
gene: APOO was added to Mitochondrial disorders. Sources: Literature
Skewed X-inactivation tags were added to gene: APOO.
Mode of inheritance for gene: APOO was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: APOO were set to 32439808
Phenotypes for gene: APOO were set to Developmental delay; Lactic acidosis; Muscle weakness; Hypotonia; Repetitive infections; Cognitive impairment; Autistic behaviour
Review for gene: APOO was set to RED
Added comment: - PMID: 32439808 (2021) - Three generation family with c.350T>C variant in APOO, encoding a component of the MICOS complex which plays a role in maintaining inner mitochondrial membrane architecture.
Phenotypes include fatigue and muscle weakness (6/8), learning difficulties and cognitive impairment (4/8), and increased blood lactate (2/8). Four individuals were asymptomatic carriers, including one male (authors indicate variability in female carriers was due to skewed X-inactivation, although skewing studies were inconclusive in some cases). Variability in clinical presentation suggests reduced penetrance or possible contribution of additional factors.
Functional studies showed altered MICOS assembly and abnormalities in mitochondria ultrastructure in patient-derived fibroblasts. Knockdown studies in Drosophila and yeast demonstrated mitochondrial structural and functional deficiencies.
Sources: Literature
Mitochondrial disorders v2.19 C12orf65 Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
Mitochondrial disorders v2.19 C12orf65 Catherine Snow commented on gene: C12orf65
Mitochondrial disorders v2.19 G6PC Catherine Snow Tag new-gene-name tag was added to gene: G6PC.
Mitochondrial disorders v2.19 G6PC Catherine Snow commented on gene: G6PC
Mitochondrial disorders v2.19 USMG5 Catherine Snow commented on gene: USMG5
Mitochondrial disorders v2.19 USMG5 Catherine Snow Tag new-gene-name tag was added to gene: USMG5.
Mitochondrial disorders v2.19 NFS1 Sarah Leigh edited their review of gene: NFS1: Added comment: Not associated with relevant phenotype in OMIM or Gen2Phen. At least one variant reported in six cases from two unrelated families, together with supportive functional studies.; Changed rating: GREEN
Mitochondrial disorders v2.19 NFS1 Sarah Leigh Tag Q2_21_rating tag was added to gene: NFS1.
Mitochondrial disorders v2.19 NFS1 Sarah Leigh Added comment: Comment on phenotypes: PMID: 24498631 describes the phenotype as "infantile mitochondrial complex II/III deficiency"
Mitochondrial disorders v2.19 NFS1 Sarah Leigh Phenotypes for gene: NFS1 were changed from No OMIM phenotype to No OMIM phenotype
Mitochondrial disorders v2.18 NFS1 Sarah Leigh Classified gene: NFS1 as Amber List (moderate evidence)
Mitochondrial disorders v2.18 NFS1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Mitochondrial disorders v2.18 NFS1 Sarah Leigh Gene: nfs1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v2.17 NFS1 Sarah Leigh Publications for gene: NFS1 were set to 24498631; 33457206
Mitochondrial disorders v2.16 NFS1 Sarah Leigh Publications for gene: NFS1 were set to 24498631
Mitochondrial disorders v2.15 NFS1 Zornitza Stark edited their review of gene: NFS1: Added comment: PMID 33457206: Second paper reporting another family (consanguineous) with three affected children and supportive functional data.
Homozygous for the same missense variant as reported in the 2014 paper - this family of Christian Arab descent; the family in the previous report of Mennonite background.
Suggests this is a mutation hotspot.; Changed rating: GREEN; Changed publications: 24498631, 33457206; Changed phenotypes: progressive hypotonia, lactic acidosis, acute metabolic crises, liver dysfunction, increased CPK
Mitochondrial disorders v2.15 SLC44A1 Arina Puzriakova Mode of inheritance for gene: SLC44A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.14 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).
Mitochondrial disorders v2.14 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
Mitochondrial disorders v2.14 HPDL Sarah Leigh Classified gene: HPDL as Amber List (moderate evidence)
Mitochondrial disorders v2.14 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.
Mitochondrial disorders v2.14 HPDL Sarah Leigh Gene: hpdl has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v2.13 HPDL Sarah Leigh Phenotypes for gene: HPDL were changed from Leigh-like phenotype; progressive neurological disease to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities OMIM:619026; Spastic paraplegia 83, autosomal recessive OMIM:619027
Mitochondrial disorders v2.12 HPDL Sarah Leigh Tag for-review tag was added to gene: HPDL.
Mitochondrial disorders v2.12 COX16 Zornitza Stark Deleted their comment
Mitochondrial disorders v2.12 COX16 Zornitza Stark edited their review of gene: COX16: Added comment: 2 unrelated patients with the same homozygous (non-consanguineous) nonsense variant c.244C>T (p.Arg82*), and isolated complex IV deficiency present in both patient fibroblasts/skeletal muscle biopsy. COX16 is involved in the biogenesis of complex IV, the terminal complex of the mitochondrial respiratory chain.; Changed rating: AMBER; Changed publications: 33169484; Changed phenotypes: Hypertrophic cardiomyopathy, encephalopathy, severe fatal lactic acidosis; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.12 NDUFB10 Zornitza Stark edited their review of gene: NDUFB10: Added comment: Second family reported, including more functional data.; Changed rating: GREEN; Changed publications: 28040730, 32025618, 33169436; Changed phenotypes: fatal infantile lactic acidosis, cardiomyopathy, Mitochondrial complex I deficiency nuclear type 35 (MC1DN35), MIM#619003
Mitochondrial disorders v2.12 COX6B1 Arina Puzriakova Publications for gene: COX6B1 were set to
Mitochondrial disorders v2.11 COX6B1 Arina Puzriakova Phenotypes for gene: COX6B1 were changed from Isolated complex IV deficiency; Cytochrome c oxidase deficiency, 220110; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency to Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051
Mitochondrial disorders v2.10 SCO1 Arina Puzriakova Publications for gene: SCO1 were set to
Mitochondrial disorders v2.9 SCO1 Arina Puzriakova Phenotypes for gene: SCO1 were changed from Isolated complex IV deficiency; Hepatic failure, early onset, and neurologic disorder; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency to Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048
Mitochondrial disorders v2.8 MT-ATP8 Ivone Leong commented on gene: MT-ATP8
Mitochondrial disorders v2.8 NSUN3 Zornitza Stark reviewed gene: NSUN3: Rating: AMBER; Mode of pathogenicity: None; Publications: 27356879, 32488845; Phenotypes: Combined oxidative phosphorylation deficiency 48, MIM# 619012; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.8 NDUFA13 Zornitza Stark reviewed gene: NDUFA13: Rating: AMBER; Mode of pathogenicity: None; Publications: 25901006, 32722639; Phenotypes: Mitochondrial complex I deficiency, nuclear type 28, MIM# 618249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.8 NDUFA8 Zornitza Stark reviewed gene: NDUFA8: Rating: RED; Mode of pathogenicity: None; Publications: 32385911; Phenotypes: NDUFA8-related mitochondrial disease, Developmental delay, microcehaly, seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.8 HPDL Zornitza Stark gene: HPDL was added
gene: HPDL was added to Mitochondrial disorders. Sources: Literature
Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPDL were set to 32707086
Phenotypes for gene: HPDL were set to Leigh-like phenotype; progressive neurological disease
Review for gene: HPDL was set to GREEN
Added comment: Biallelic variants reported in 13 families with a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia. HPDL has a mitochondrial localization signal and consequently localizes to mitochondria suggesting a putative role in mitochondrial metabolism. Suggest adding to ID panel and possibly others.
Sources: Literature
Mitochondrial disorders v2.8 TOMM70 Eleanor Williams Classified gene: TOMM70 as Amber List (moderate evidence)
Mitochondrial disorders v2.8 TOMM70 Eleanor Williams Added comment: Comment on list classification: After consultation with the Genomics England clinical team it was decided to rate this gene as Amber for now, until a clearer phenotype is established and the predominant mode of inheritance is determined.
Mitochondrial disorders v2.8 TOMM70 Eleanor Williams Gene: tomm70 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v2.7 TOMM70 Eleanor Williams gene: TOMM70 was added
gene: TOMM70 was added to Mitochondrial disorders. Sources: Literature
Mode of inheritance for gene: TOMM70 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TOMM70 were set to 31907385; 32356556
Phenotypes for gene: TOMM70 were set to Severe anaemia, lactic acidosis; developmental delay; white matter abnormalities
Review for gene: TOMM70 was set to AMBER
Added comment: Not associated with a disease phenotype in OMIM or Gene2Phenotype

PMID: 31907385 - Wei et al 2020 - report a patient with severe anemia, lactic acidosis, and developmental delay in which two compound heterozygous variants in TOMM70 [c.794C>T (p.T265M) and c.1745C>T (p.A582V)] were identified. Functional studies showed that patient-derived cells exhibited multi-oxidative phosphorylation system (OXPHOS) complex defects. Abstract only accessed.

PMID: 32356556 - Dutta et al 2020 - report 2 patients with de novo heterozygous missense variants in the C-terminal region of TOMM70. Both patients had shared symptoms including hypotonia, hyper-reflexia, ataxia, dystonia and significant white matter abnormalities. Patient 1 showed severe global developmental delay. However, for patient 1 a neurodevelopmental disorder was noted in infancy, but patient 2 developed as normal until age 4 when neurological regression occurred. Some functional data from Drosophila show that the variants cause partial loss of function.

3 cases but different mode of inheritance and phenotypic presentation.
Sources: Literature
Mitochondrial disorders v2.6 QRSL1 Eleanor Williams Phenotypes for gene: QRSL1 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 40, 618835
Mitochondrial disorders v2.5 CRAT Zornitza Stark reviewed gene: CRAT: Rating: AMBER; Mode of pathogenicity: None; Publications: 29395073, 31448845; Phenotypes: Neurodegeneration with brain iron accumulation 8, MIM# 617917, Leigh syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.5 UQCRB Zornitza Stark reviewed gene: UQCRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23281071, 28275242; Phenotypes: Mitochondrial complex III deficiency, nuclear type 3, 615158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disorders v2.5 SDHB Zornitza Stark reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 22972948, 26925370, 27604842; Phenotypes: Complex II deficiency, mitochondrial leucoencephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disorders v2.5 MRPS23 Zornitza Stark reviewed gene: MRPS23: Rating: GREEN; Mode of pathogenicity: None; Publications: 26741492, 17873122, 25663021, 28752220; Phenotypes: Hepatic disease, Combined respiratory chain complex deficiencies, Cardiomyopathy, Tubulopathy, Lactic acidosis, Structural brain abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.5 COASY Zornitza Stark reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: None; Publications: 25778941, 24360804, 30089828, 28489334; Phenotypes: Neurodegeneration with brain iron accumulation 6 MIM#615643, Pontocerebellar hypoplasia, type 12 MIM#618266; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.5 NAXD Zornitza Stark reviewed gene: NAXD: Rating: GREEN; Mode of pathogenicity: None; Publications: 30576410; Phenotypes: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.5 UQCRFS1 Zornitza Stark reviewed gene: UQCRFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31883641; Phenotypes: Mitochondrial Complex III deficiency, lactic acidosis, fetal bradycardia, hypertrophic cardiomyopathy, alopecia totalis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.5 SPATA5 Zornitza Stark reviewed gene: SPATA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30009132, 29343804; Phenotypes: Epilepsy, hearing loss, and mental retardation syndrome MIM#616577; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disorders v2.5 SLC52A3 Zornitza Stark reviewed gene: SLC52A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29053833, 29193829; Phenotypes: Brown-Vialetto-Van Laere syndrome 1, MIM#211530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.5 SLC52A2 Zornitza Stark reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29053833, 29193829; Phenotypes: Brown-Vialetto-Van Laere syndrome 2 MIM#614707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.5 SLC39A8 Zornitza Stark reviewed gene: SLC39A8: Rating: AMBER; Mode of pathogenicity: None; Publications: 29453449, 27995398; Phenotypes: Congenital disorder of glycosylation, type IIn, MIM#616721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.5 SLC25A24 Zornitza Stark reviewed gene: SLC25A24: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100094, 29100093; Phenotypes: Fontaine progeroid syndrome, MIM#612289; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disorders v2.5 SLC25A20 Zornitza Stark reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: None; Publications: 9399886, 31108048, 25778941; Phenotypes: Carnitine-acylcarnitine translocase deficiency MIM#212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.5 SLC22A5 Zornitza Stark reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 9916797, 25778941, 17884651, 25778941; Phenotypes: Carnitine deficiency, systemic primary MIM#212140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disorders v2.5 SDHAF4 Zornitza Stark reviewed gene: SDHAF4: Rating: RED; Mode of pathogenicity: None; Publications: 24954416; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v2.5 SDHAF3 Zornitza Stark reviewed gene: SDHAF3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v2.5 QARS Zornitza Stark edited their review of gene: QARS: Added comment: Encodes t-RNA synthetase, over 20 individuals reported, include in mito panel in line with other t-RNA synthetases.; Changed rating: GREEN; Changed publications: 28620870, 25471517, 25432320, 25041233, 24656866, 32042906; Changed phenotypes: Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760
Mitochondrial disorders v2.5 PPOX Zornitza Stark reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 25778941, 9811936, 12859407, 30476629; Phenotypes: Porphyria variegata MIM#176200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.5 POLRMT Zornitza Stark reviewed gene: POLRMT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v2.5 PLA2G6 Zornitza Stark reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25348461, 26001724, 26506412, 30528460, 16783378; Phenotypes: Infantile neuroaxonal dystrophy 1 MIM#256600, Neurodegeneration with brain iron accumulation 2B MIM#610217, Parkinson disease 14, autosomal recessive MIM#612953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disorders v2.5 PITRM1 Zornitza Stark reviewed gene: PITRM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26697887, 29764912; Phenotypes: Cerebellar atrophy, mental retardation, spinocerebellar ataxia, cognitive decline, psychosis; Mode of inheritance: None; Current diagnostic: yes
Mitochondrial disorders v2.5 PANK2 Zornitza Stark reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25778941, 11479594, 12510040, 28863176, 25778941; Phenotypes: HARP syndrome MIM#607236, Neurodegeneration with brain iron accumulation 1 MIM#234200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disorders v2.5 OXCT1 Zornitza Stark reviewed gene: OXCT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25778941, 10964512, 8751852, 23420214, 25778941; Phenotypes: Succinyl CoA:3-oxoacid CoA transferase deficiency, MIM#245050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disorders v2.5 OXA1L Zornitza Stark reviewed gene: OXA1L: Rating: AMBER; Mode of pathogenicity: None; Publications: 30201738, 16435202; Phenotypes: encephalopathy, hypotonia, developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.5 NDUFB10 Zornitza Stark reviewed gene: NDUFB10: Rating: AMBER; Mode of pathogenicity: None; Publications: 28040730, 32025618; Phenotypes: fatal infantile lactic acidosis, cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.5 NDUFAF7 Zornitza Stark reviewed gene: NDUFAF7: Rating: RED; Mode of pathogenicity: None; Publications: 28837730; Phenotypes: Myopia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disorders v2.5 MRM2 Zornitza Stark reviewed gene: MRM2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28973171; Phenotypes: MELAS-like; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.5 MARS2 Zornitza Stark reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25754315; Phenotypes: Combined oxidative phosphorylation deficiency 25, OMIM #616430, Spastic ataxia 3, autosomal recessive, OMIM #611390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.5 LYRM4 Zornitza Stark changed review comment from: Three individuals from two families reported.; to: Three individuals from two families reported. Amber on the other mito panel.
Mitochondrial disorders v2.5 LYRM4 Zornitza Stark reviewed gene: LYRM4: Rating: AMBER; Mode of pathogenicity: None; Publications: 23814038, 31497476; Phenotypes: Combined oxidative phosphorylation deficiency 19, MIM# 615595; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.5 IDH3A Zornitza Stark reviewed gene: IDH3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31012789, 30478029, 30058936, 28412069; Phenotypes: Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.5 GATC Zornitza Stark reviewed gene: GATC: Rating: RED; Mode of pathogenicity: None; Publications: 30283131; Phenotypes: Mitochondrial cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.5 GATB Zornitza Stark reviewed gene: GATB: Rating: RED; Mode of pathogenicity: None; Publications: 30283131; Phenotypes: Mitochondrial cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.5 G6PC Zornitza Stark changed review comment from: Not a mitochondrial disorder.; to: Not a mitochondrial disorder. It is Red on the other mito panel.
Mitochondrial disorders v2.5 G6PC Zornitza Stark reviewed gene: G6PC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease Ia, MIM# 232200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.5 SSBP1 Zornitza Stark reviewed gene: SSBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31298765, 31479473, 31550237, 31550240; Phenotypes: Optic atrophy with or without extraocular phenotypes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disorders v2.5 XPNPEP3 Zornitza Stark reviewed gene: XPNPEP3: Rating: RED; Mode of pathogenicity: None; Publications: 20179356; Phenotypes: Nephronophthisis-like nephropathy 1, MIM#613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.5 UQCR11 Zornitza Stark reviewed gene: UQCR11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v2.5 UQCR10 Zornitza Stark reviewed gene: UQCR10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v2.5 UQCC1 Zornitza Stark reviewed gene: UQCC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v2.5 ETFB Zornitza Stark reviewed gene: ETFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 12815589, 7912128; Phenotypes: Glutaric acidemia IIB MIM#231680, Multiple acyl-CoA dehydrogenase deficiency (MADD); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.5 ETFA Zornitza Stark reviewed gene: ETFA: Rating: GREEN; Mode of pathogenicity: None; Publications: 1882842, 12815589; Phenotypes: Glutaric acidemia IIA MIM#231680, Multiple acyl-CoA dehydrogenase deficiency (MADD); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.5 ERAL1 Zornitza Stark reviewed gene: ERAL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome 6, MIM# 617565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.5 CYCS Zornitza Stark edited their review of gene: CYCS: Added comment: At least three families have been reported with this condition. CYCS is located in the mitochondria and is involved in the electron transport system that functions in oxidative phosphorylation.; Changed publications: 18345000, 24326104, 30051457
Mitochondrial disorders v2.5 COX6B2 Zornitza Stark reviewed gene: COX6B2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v2.5 COX6A2 Zornitza Stark reviewed gene: COX6A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31155743, 23460811; Phenotypes: Mitochondrial complex IV deficiency, MIM# 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.5 COX19 Zornitza Stark reviewed gene: COX19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v2.5 COX18 Zornitza Stark reviewed gene: COX18: Rating: RED; Mode of pathogenicity: None; Publications: 19373256; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v2.5 COX17 Zornitza Stark reviewed gene: COX17: Rating: RED; Mode of pathogenicity: None; Publications: 12370308; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v2.5 COX16 Zornitza Stark reviewed gene: COX16: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v2.5 COX14 Zornitza Stark reviewed gene: COX14: Rating: AMBER; Mode of pathogenicity: None; Publications: 22243966; Phenotypes: Mitochondrial complex IV deficiency, MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.5 COX11 Zornitza Stark reviewed gene: COX11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v2.5 COQ5 Zornitza Stark reviewed gene: COQ5: Rating: RED; Mode of pathogenicity: None; Publications: 29044765; Phenotypes: Cerebellar ataxia, encephalopathy, generalized tonic-clonic seizures, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.5 COA4 Zornitza Stark reviewed gene: COA4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v2.5 COA3 Zornitza Stark reviewed gene: COA3: Rating: RED; Mode of pathogenicity: None; Publications: 25604084; Phenotypes: Mitochondrial complex IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.5 BTD Zornitza Stark commented on gene: BTD: Can we please review the link to mitochondrial disease?
Mitochondrial disorders v2.5 ATPAF1 Zornitza Stark reviewed gene: ATPAF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v2.5 ATP5L2 Zornitza Stark reviewed gene: ATP5L2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v2.5 ATP5L Zornitza Stark reviewed gene: ATP5L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v2.5 ATP5J2 Zornitza Stark reviewed gene: ATP5J2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v2.5 ATP5H Zornitza Stark reviewed gene: ATP5H: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v2.5 ATP5F1 Zornitza Stark reviewed gene: ATP5F1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v2.5 ANO10 Zornitza Stark edited their review of gene: ANO10: Added comment: I don't think this is a mitochondrial disorder. The reported CoQ10 deficiency appears to be secondary.; Changed publications: 25778941; Changed phenotypes: Spinocerebellar ataxia, autosomal recessive 10, MIM# 613728
Mitochondrial disorders v2.5 Sarah Leigh Panel version has been signed off
Mitochondrial disorders v2.3 TIMM50 Louise Daugherty Tag watchlist was removed from gene: TIMM50.
Mitochondrial disorders v2.3 TIMM50 Louise Daugherty commented on gene: TIMM50
Mitochondrial disorders v2.3 MTFMT Louise Daugherty Tag watchlist was removed from gene: MTFMT.
Mitochondrial disorders v2.3 MTFMT Louise Daugherty commented on gene: MTFMT
Mitochondrial disorders v2.3 LYRM7 Louise Daugherty Tag watchlist was removed from gene: LYRM7.
Mitochondrial disorders v2.3 LYRM7 Louise Daugherty commented on gene: LYRM7
Mitochondrial disorders v2.3 FDX2 Louise Daugherty Tag watchlist was removed from gene: FDX2.
Mitochondrial disorders v2.3 FDX2 Louise Daugherty commented on gene: FDX2: As a result of watchlist tag audit the watchlist tag was removed from FDX2- this is now a green gene with sufficient evidence/review
Mitochondrial disorders v2.3 COQ9 Louise Daugherty commented on gene: COQ9
Mitochondrial disorders v2.3 ATPAF2 Louise Daugherty commented on gene: ATPAF2
Mitochondrial disorders v2.3 GARS Louise Daugherty Tag new-gene-name tag was added to gene: GARS.
Mitochondrial disorders v2.3 ATP5L2 Louise Daugherty commented on gene: ATP5L2
Mitochondrial disorders v2.3 ATP5L2 Louise Daugherty Tag new-gene-name tag was added to gene: ATP5L2.
Mitochondrial disorders v2.3 ATP5L Louise Daugherty commented on gene: ATP5L
Mitochondrial disorders v2.3 ATP5L Louise Daugherty Tag new-gene-name tag was added to gene: ATP5L.
Mitochondrial disorders v2.3 ATP5J2 Louise Daugherty commented on gene: ATP5J2
Mitochondrial disorders v2.3 ATP5J2 Louise Daugherty Tag new-gene-name tag was added to gene: ATP5J2.
Mitochondrial disorders v2.3 ATP5H Louise Daugherty commented on gene: ATP5H
Mitochondrial disorders v2.3 ATP5H Louise Daugherty Tag new-gene-name tag was added to gene: ATP5H.
Mitochondrial disorders v2.3 ATP5F1 Louise Daugherty commented on gene: ATP5F1
Mitochondrial disorders v2.3 ATP5F1 Louise Daugherty Tag new-gene-name tag was added to gene: ATP5F1.
Mitochondrial disorders v2.2 ABCB7 Ivone Leong Added comment: Comment on mode of inheritance: Change MOI from "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)" to "X-LINKED: hemizygous mutation in males, biallelic mutations in females" to reflect the MOI that is given to this gene on the "Possible mitochondrial disorder - nuclear genes" (code: 539, v1.12).
Mitochondrial disorders v2.2 ABCB7 Ivone Leong Mode of inheritance for gene: ABCB7 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mitochondrial disorders v2.1 ISCA2 Sarah Leigh Publications for gene: ISCA2 were set to PMID: 25539947
Mitochondrial disorders v2.0 COQ7 Sarah Leigh edited their review of gene: COQ7: Changed publications: 28409910, 26084283
Mitochondrial disorders v2.0 Sarah Leigh promoted panel to version 2.0
Mitochondrial disorders v1.487 Sarah Leigh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off
Mitochondrial disorders v1.486 CYCS Sarah Leigh Publications for gene: CYCS were set to PMID: 18345000; 24326104
Mitochondrial disorders v1.485 PITRM1 Sarah Leigh changed review comment from: Based on publications pmids 29764912; 26697887; 29383861; to: Green rating based on publications pmids 29764912; 26697887; 29383861
Mitochondrial disorders v1.485 LARS Louise Daugherty Tag new-gene-name tag was added to gene: LARS.
Mitochondrial disorders v1.485 LARS Louise Daugherty commented on gene: LARS
Mitochondrial disorders v1.485 IARS Louise Daugherty commented on gene: IARS
Mitochondrial disorders v1.485 QARS Louise Daugherty Tag new-gene-name tag was added to gene: QARS.
Mitochondrial disorders v1.485 QARS Louise Daugherty commented on gene: QARS
Mitochondrial disorders v1.485 GARS Louise Daugherty Tag treatable tag was added to gene: GARS.
Mitochondrial disorders v1.485 GARS Louise Daugherty commented on gene: GARS
Mitochondrial disorders v1.485 KARS Louise Daugherty Tag new-gene-name tag was added to gene: KARS.
Mitochondrial disorders v1.485 KARS Louise Daugherty commented on gene: KARS
Mitochondrial disorders v1.485 DARS Louise Daugherty Tag new-gene-name tag was added to gene: DARS.
Mitochondrial disorders v1.485 DARS Louise Daugherty commented on gene: DARS
Mitochondrial disorders v1.485 USMG5 Sarah Leigh Tag founder-effect tag was added to gene: USMG5.
Mitochondrial disorders v1.485 USMG5 Sarah Leigh edited their review of gene: USMG5: Changed rating: AMBER
Mitochondrial disorders v1.485 IARS Sarah Leigh edited their review of gene: IARS: Changed rating: AMBER
Mitochondrial disorders v1.485 PLA2G6 Sarah Leigh edited their review of gene: PLA2G6: Changed rating: AMBER
Mitochondrial disorders v1.485 PLA2G6 Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as a both DD and IF Gen2Phen gene. At least numerous variants reported. The GMS mitochondrial specialist test group should be consultated on this gene with respect to phenotype (comments from Anna de Burca, Genomics England Clinical Fellow). ; to: Associated with relevant phenotype in OMIM and as a both DD and IF Gen2Phen gene. Numerous variants reported. The GMS mitochondrial specialist test group should be consultated on this gene with respect to phenotype (comments from Anna de Burca, Genomics England Clinical Fellow). 
Mitochondrial disorders v1.485 GATC Sarah Leigh Classified gene: GATC as Amber List (moderate evidence)
Mitochondrial disorders v1.485 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.
Mitochondrial disorders v1.485 GATC Sarah Leigh Gene: gatc has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.484 GATC Sarah Leigh Publications for gene: GATC were set to
Mitochondrial disorders v1.483 GATB Sarah Leigh Publications for gene: GATB were set to
Mitochondrial disorders v1.482 GATB Sarah Leigh Classified gene: GATB as Amber List (moderate evidence)
Mitochondrial disorders v1.482 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.
Mitochondrial disorders v1.482 GATB Sarah Leigh Gene: gatb has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.481 ATP5A1 Sarah Leigh Classified gene: ATP5A1 as Amber List (moderate evidence)
Mitochondrial disorders v1.481 ATP5A1 Sarah Leigh Added comment: Comment on list classification: The Amber rating is based on the views of Anna de Burca (Genomics England Clinical Fellow) that the interpretation of PMID 23599390 that the boys have inherited a heterozygous variant from their father while not expressing the maternal allele due to unknown variant affecting expression.
Mitochondrial disorders v1.481 ATP5A1 Sarah Leigh Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.480 SPATA5 Sarah Leigh Publications for gene: SPATA5 were set to PMID: 27246907; 29343804; 26299366
Mitochondrial disorders v1.479 SPATA5 Sarah Leigh Classified gene: SPATA5 as Amber List (moderate evidence)
Mitochondrial disorders v1.479 SPATA5 Sarah Leigh Added comment: Comment on list classification: This gene is being rated as amber as it has not been reviewed as green by the GMS Mitochondrial specialist test group.
Mitochondrial disorders v1.479 SPATA5 Sarah Leigh Gene: spata5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.478 PITRM1 Sarah Leigh edited their review of gene: PITRM1: Added comment: Based on publications pmids 29764912; 26697887; 29383861; Changed rating: GREEN
Mitochondrial disorders v1.478 PITRM1 Sarah Leigh Classified gene: PITRM1 as Amber List (moderate evidence)
Mitochondrial disorders v1.478 PITRM1 Sarah Leigh Added comment: Comment on list classification: This gene is being demoted to amber as it has not been reviewed as green by the GMS Mitochondrial specialist test group.
Mitochondrial disorders v1.478 PITRM1 Sarah Leigh Gene: pitrm1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.477 SPATA5 Rachel Jones gene: SPATA5 was added
gene: SPATA5 was added to Mitochondrial disorders. Sources: Literature
Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5 were set to PMID: 27246907; 29343804; 26299366
Phenotypes for gene: SPATA5 were set to Epilepsy, hearing loss, and mental retardation syndrome 616577
Penetrance for gene: SPATA5 were set to Complete
Review for gene: SPATA5 was set to GREEN
Added comment: Greater than 15 families have been identified in multiple publications showing that patients with SPATA5 biallelic variants present with intellectual disability, epilepsy, microcephaly and hearing loss, as well as cortical blindness, spasticity and feeding problems; and prior to the gene being discovered to cause the phenotype in these families patients were often thought to have a mitochondrial disorder.

As per Puusepp et al (PMID: 29343804) functional studies were performed on rat cortical neurons. "SPATA5-deficient neurons had a significant imbalance in the mitochondrial fusion-fission rate, impaired energy production and short axons. In conclusion, SPATA5 protein has an important role in mitochondrial dynamics and axonal growth. Biallelic variants in the SPATA5 gene can affect mitochondria in cortical neurons and should be considered in patients with a neurodegenerative disorder and/or with clinical presentation resembling a mitochondrial disorder."
Sources: Literature
Mitochondrial disorders v1.477 ISCU Sarah Leigh Added comment: Comment on mode of inheritance: PMID 29079705 reports a novel de novo dominant variant in ISCU associated with mitochondrial myopathy, which justifies the mode of inheritance recorded here.
Mitochondrial disorders v1.477 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
Mitochondrial disorders v1.476 POLG2 Sarah Leigh changed review comment from: Comment on mode of inheritance: Reporting and characterization of a homozygous POLG2 variant in mitochondrial DNA depletion syndrome (PMID 27592148; 30157269); to: Comment on mode of inheritance: Reporting and characterization of a homozygous POLG2 variant in mitochondrial DNA depletion syndrome and in an autosomal recessive epilepsy family without ophthalmoplegia (PMID 27592148; 30157269; 31286721).
Mitochondrial disorders v1.476 POLG2 Sarah Leigh Publications for gene: POLG2 were set to 27592148; 30157269; 21555342
Mitochondrial disorders v1.475 SLC25A4 Sarah Leigh Mode of inheritance for gene: SLC25A4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v1.474 SLC25A4 Sarah Leigh Phenotypes for gene: SLC25A4 were changed from Disorders of mitochondrial DNA maintenance and integrity; Disorders of mitochondrial protein transport; Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283; Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418; Progressive External Ophthalmoplegia with Mitochondrial DNADeletions to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) 617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283
Mitochondrial disorders v1.473 POLG2 Sarah Leigh Publications for gene: POLG2 were set to 27592148; 30157269
Mitochondrial disorders v1.472 POLG2 Sarah Leigh Publications for gene: POLG2 were set to
Mitochondrial disorders v1.471 POLG2 Sarah Leigh Added comment: Comment on mode of inheritance: Reporting and characterization of a homozygous POLG2 variant in mitochondrial DNA depletion syndrome (PMID 27592148; 30157269)
Mitochondrial disorders v1.471 POLG2 Sarah Leigh Mode of inheritance for gene: POLG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v1.470 ISCU Sarah Leigh Publications for gene: ISCU were set to 18296749; 29079705; 19567699; 20206689
Mitochondrial disorders v1.469 ISCU Sarah Leigh changed review comment from: Comment on list classification: Sufficient publshed reported biallelic cases, together with a heterozygous case with supportive functional studies.; to: 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.
Mitochondrial disorders v1.469 ISCU Sarah Leigh edited their review of gene: ISCU: Changed publications: 18304497
Mitochondrial disorders v1.469 ISCU Sarah Leigh Tag non-coding-known-pathogenic tag was added to gene: ISCU.
Mitochondrial disorders v1.469 TARS2 Sarah Leigh Mode of inheritance for gene: TARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.468 OXA1L Sarah Leigh Mode of inheritance for gene: OXA1L was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.467 LYRM4 Sarah Leigh Mode of inheritance for gene: LYRM4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.466 NFS1 Sarah Leigh Mode of inheritance for gene: NFS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.465 NDUFB10 Sarah Leigh Mode of inheritance for gene: NDUFB10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.464 NDUFA12 Sarah Leigh Mode of inheritance for gene: NDUFA12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.463 MRPS7 Sarah Leigh Mode of inheritance for gene: MRPS7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.462 MRPL12 Sarah Leigh Mode of inheritance for gene: MRPL12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.461 IDH3B Sarah Leigh Mode of inheritance for gene: IDH3B was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.460 COX5A Sarah Leigh Publications for gene: COX5A were set to
Mitochondrial disorders v1.459 COX5A Sarah Leigh Mode of inheritance for gene: COX5A was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.458 COX4I1 Sarah Leigh Mode of inheritance for gene: COX4I1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.457 COA5 Sarah Leigh Mode of inheritance for gene: COA5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.456 HMGCL Sarah Leigh Deleted their comment
Mitochondrial disorders v1.456 TRAK1 Sarah Leigh changed review comment from: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in unrelated cases. Rated as Red is not likely to suggest a non-specific mitochondrial disorder (comments from Anna de Burca, Genomics England Clinical Fellow) and is covered by the Genetic epilepsy syndromes panel if the patient presents with epilepsy (code 402, Version 1.56).; to: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in unrelated cases. Rated as Red it is not likely to suggest a non-specific mitochondrial disorder (comments from Anna de Burca, Genomics England Clinical Fellow) and is covered by the Genetic epilepsy syndromes panel if the patient presents with epilepsy (code 402, Version 1.56).
Mitochondrial disorders v1.456 TRAK1 Sarah Leigh changed review comment from: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in unrelated cases.; to: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in unrelated cases. Rated as Red is not likely to suggest a non-specific mitochondrial disorder (comments from Anna de Burca, Genomics England Clinical Fellow) and is covered by the Genetic epilepsy syndromes panel if the patient presents with epilepsy (code 402, Version 1.56).
Mitochondrial disorders v1.456 PLA2G6 Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as a both DD and IF Gen2Phen gene. At least numerous variants reported.; to: Associated with relevant phenotype in OMIM and as a both DD and IF Gen2Phen gene. At least numerous variants reported. The GMS mitochondrial specialist test group should be consultated on this gene with respect to phenotype (comments from Anna de Burca, Genomics England Clinical Fellow). 
Mitochondrial disorders v1.456 PLA2G6 Sarah Leigh Phenotypes for gene: PLA2G6 were changed from to Infantile neuroaxonal dystrophy 1 256600; Neurodegeneration with brain iron accumulation 2B 610217; Parkinson disease 14, autosomal recessive 612953
Mitochondrial disorders v1.456 PLA2G6 Sarah Leigh Publications for gene: PLA2G6 were set to
Mitochondrial disorders v1.455 USMG5 Sarah Leigh changed review comment from: Homozygouse founder variant (NM_032747.3 c.87+1G>C) reported in three unrelated Ashkenazi Jewish families (allele freq 0.57% in Ashkenazi Jewish populations). Not associated with phenotype in OMIM or in Gen2Phen. Supportive functional studies are also reported (PMID 29917077). Comment from Anna de Burca, Genomics England Clinical Fellow: the GMS mitochondrial specialist test group should be consultated on this gene.; to: Homozygouse founder variant (NM_032747.3 c.87+1G>C) reported in three unrelated Ashkenazi Jewish families (allele freq 0.57% in Ashkenazi Jewish populations). Not associated with phenotype in OMIM or in Gen2Phen. Supportive functional studies are also reported (PMID 29917077). The GMS mitochondrial specialist test group should be consultated on this gene and the founder variants (comment from Anna de Burca, Genomics England Clinical Fellow). 
Mitochondrial disorders v1.455 IARS Sarah Leigh commented on gene: IARS: The GMS mitochondrial specialist test group should be consultated on this gene with respect to phenotype (comments from Anna de Burca, Genomics England Clinical Fellow).
Mitochondrial disorders v1.455 IARS Sarah Leigh commented on gene: IARS: "New gene name" tag added, the new gene name is IARS1
Mitochondrial disorders v1.455 IARS Sarah Leigh Tag new-gene-name tag was added to gene: IARS.
Mitochondrial disorders v1.455 IARS2 Sarah Leigh Tag new-gene-name was removed from gene: IARS2.
Mitochondrial disorders v1.455 IARS2 Sarah Leigh Deleted their comment
Mitochondrial disorders v1.455 IARS2 Sarah Leigh commented on gene: IARS2: "New gene name" tag added, the new gene name is IARS1.
Mitochondrial disorders v1.455 IARS2 Sarah Leigh Tag new-gene-name tag was added to gene: IARS2.
Mitochondrial disorders v1.455 XRCC4 Sarah Leigh Phenotypes for gene: XRCC4 were changed from to Short stature, microcephaly, and endocrine dysfunction 616541
Mitochondrial disorders v1.455 XRCC4 Sarah Leigh Publications for gene: XRCC4 were set to
Mitochondrial disorders v1.454 STXBP1 Sarah Leigh Phenotypes for gene: STXBP1 were changed from to Epileptic encephalopathy, early infantile, 4 612164
Mitochondrial disorders v1.454 STXBP1 Sarah Leigh Publications for gene: STXBP1 were set to
Mitochondrial disorders v1.453 SLC44A1 Sarah Leigh Phenotypes for gene: SLC44A1 were changed from mild ID, macrocephaly, acanthosis nigricans, accessory mamilla, muscular hypotonia, frontotemporal cerebral atrophy to mild ID, macrocephaly, acanthosis nigricans, accessory mamilla, muscular hypotonia, frontotemporal cerebral atrophy
Mitochondrial disorders v1.453 SLC44A1 Sarah Leigh Phenotypes for gene: SLC44A1 were changed from to mild ID, macrocephaly, acanthosis nigricans, accessory mamilla, muscular hypotonia, frontotemporal cerebral atrophy
Mitochondrial disorders v1.453 SLC44A1 Sarah Leigh Publications for gene: SLC44A1 were set to
Mitochondrial disorders v1.452 SLC39A8 Sarah Leigh Phenotypes for gene: SLC39A8 were changed from to Congenital disorder of glycosylation, type IIn 616721
Mitochondrial disorders v1.452 SLC39A8 Sarah Leigh Publications for gene: SLC39A8 were set to
Mitochondrial disorders v1.451 SLC33A1 Sarah Leigh Phenotypes for gene: SLC33A1 were changed from to Congenital cataracts, hearing loss, and neurodegeneration 614482; Spastic paraplegia 42, autosomal dominant 612539
Mitochondrial disorders v1.450 SLC33A1 Sarah Leigh Publications for gene: SLC33A1 were set to
Mitochondrial disorders v1.449 SLC25A24 Sarah Leigh Phenotypes for gene: SLC25A24 were changed from to Fontaine progeroid syndrome 612289
Mitochondrial disorders v1.449 SLC25A24 Sarah Leigh Publications for gene: SLC25A24 were set to
Mitochondrial disorders v1.448 SLC25A10 Sarah Leigh Publications for gene: SLC25A10 were set to
Mitochondrial disorders v1.447 SEPSECS Sarah Leigh Publications for gene: SEPSECS were set to
Mitochondrial disorders v1.446 PTRH2 Sarah Leigh Phenotypes for gene: PTRH2 were changed from to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 616263
Mitochondrial disorders v1.446 PTRH2 Sarah Leigh Publications for gene: PTRH2 were set to
Mitochondrial disorders v1.445 PDE12 Sarah Leigh Publications for gene: PDE12 were set to
Mitochondrial disorders v1.444 PAM16 Sarah Leigh Phenotypes for gene: PAM16 were changed from to Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 613320
Mitochondrial disorders v1.444 PAM16 Sarah Leigh Publications for gene: PAM16 were set to
Mitochondrial disorders v1.443 NAXD Sarah Leigh Phenotypes for gene: NAXD were changed from to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 618321
Mitochondrial disorders v1.443 NAXD Sarah Leigh Publications for gene: NAXD were set to
Mitochondrial disorders v1.442 MICU2 Sarah Leigh Phenotypes for gene: MICU2 were changed from to severe cognitive impairment and spasticity
Mitochondrial disorders v1.442 MICU2 Sarah Leigh Publications for gene: MICU2 were set to
Mitochondrial disorders v1.441 KIF5A Sarah Leigh Phenotypes for gene: KIF5A were changed from to Myoclonus, intractable, neonatal 617235; Spastic paraplegia 10, autosomal dominant 604187; {Amyotrophic lateral sclerosis, susceptibility to, 25} 617921
Mitochondrial disorders v1.441 KIF5A Sarah Leigh Publications for gene: KIF5A were set to
Mitochondrial disorders v1.440 HSPE1 Sarah Leigh Publications for gene: HSPE1 were set to 29903433; 27774450
Mitochondrial disorders v1.440 HSPE1 Sarah Leigh Phenotypes for gene: HSPE1 were changed from to Neurological and Developmental Disorder
Mitochondrial disorders v1.440 HSPE1 Sarah Leigh Publications for gene: HSPE1 were set to
Mitochondrial disorders v1.439 GUF1 Sarah Leigh Phenotypes for gene: GUF1 were changed from to ?Epileptic encephalopathy, early infantile, 40 617065
Mitochondrial disorders v1.439 GUF1 Sarah Leigh Publications for gene: GUF1 were set to
Mitochondrial disorders v1.438 FGF12 Sarah Leigh Phenotypes for gene: FGF12 were changed from Epileptic encephalopathy, early infantile, 47 617166 to Epileptic encephalopathy, early infantile, 47 617166
Mitochondrial disorders v1.437 FGF12 Sarah Leigh Phenotypes for gene: FGF12 were changed from to Epileptic encephalopathy, early infantile, 47 617166
Mitochondrial disorders v1.437 FGF12 Sarah Leigh Publications for gene: FGF12 were set to
Mitochondrial disorders v1.436 FA2H Sarah Leigh Phenotypes for gene: FA2H were changed from to Spastic paraplegia 35, autosomal recessive 612319
Mitochondrial disorders v1.436 FA2H Sarah Leigh Publications for gene: FA2H were set to
Mitochondrial disorders v1.435 DIAPH1 Sarah Leigh Phenotypes for gene: DIAPH1 were changed from to Deafness, autosomal dominant 1 124900; Seizures, cortical blindness, microcephaly syndrome 616632
Mitochondrial disorders v1.435 DIAPH1 Sarah Leigh Publications for gene: DIAPH1 were set to
Mitochondrial disorders v1.434 DIABLO Sarah Leigh Phenotypes for gene: DIABLO were changed from to Deafness, autosomal dominant 64 614152
Mitochondrial disorders v1.434 DIABLO Sarah Leigh Publications for gene: DIABLO were set to
Mitochondrial disorders v1.433 CYP24A1 Sarah Leigh Phenotypes for gene: CYP24A1 were changed from to Hypercalcemia, infantile, 1 143880
Mitochondrial disorders v1.433 CYP24A1 Sarah Leigh Publications for gene: CYP24A1 were set to
Mitochondrial disorders v1.432 CTBP1 Sarah Leigh Phenotypes for gene: CTBP1 were changed from to Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 617915
Mitochondrial disorders v1.432 CTBP1 Sarah Leigh Publications for gene: CTBP1 were set to
Mitochondrial disorders v1.431 CRAT Sarah Leigh Phenotypes for gene: CRAT were changed from to ?Neurodegeneration with brain iron accumulation 8 617917
Mitochondrial disorders v1.431 CRAT Sarah Leigh Publications for gene: CRAT were set to
Mitochondrial disorders v1.430 CLPX Sarah Leigh Phenotypes for gene: CLPX were changed from to ?Protoporphyria, erythropoietic, 2 618015
Mitochondrial disorders v1.430 CLPX Sarah Leigh Publications for gene: CLPX were set to
Mitochondrial disorders v1.429 BDH1 Sarah Leigh Publications for gene: BDH1 were set to
Mitochondrial disorders v1.428 USMG5 Sarah Leigh changed review comment from: Homozygouse founder variant (NM_032747.3 c.87+1G>C) reported in three unrelated Ashkenazi Jewish families (allele freq 0.57% in Ashkenazi Jewish populations). Not associated with phenotype in OMIM or in Gen2Phen. Supportive functional studies are also reported (PMID 29917077).; to: Homozygouse founder variant (NM_032747.3 c.87+1G>C) reported in three unrelated Ashkenazi Jewish families (allele freq 0.57% in Ashkenazi Jewish populations). Not associated with phenotype in OMIM or in Gen2Phen. Supportive functional studies are also reported (PMID 29917077). Comment from Anna de Burca, Genomics England Clinical Fellow: the GMS mitochondrial specialist test group should be consultated on this gene.
Mitochondrial disorders v1.428 USMG5 Sarah Leigh Phenotypes for gene: USMG5 were changed from to Autosomal recessive Leigh syndrome
Mitochondrial disorders v1.428 USMG5 Sarah Leigh Publications for gene: USMG5 were set to
Mitochondrial disorders v1.427 ALDH18A1 Sarah Leigh Phenotypes for gene: ALDH18A1 were changed from to Cutis laxa, autosomal dominant 3 616603; Cutis laxa, autosomal recessive, type IIIA 219150; Spastic paraplegia 9A, autosomal dominant 601162; Spastic paraplegia 9B, autosomal recessive 616586
Mitochondrial disorders v1.427 ALDH18A1 Sarah Leigh Publications for gene: ALDH18A1 were set to
Mitochondrial disorders v1.426 ALAS2 Sarah Leigh Phenotypes for gene: ALAS2 were changed from to Anemia, sideroblastic, 1 300751; Protoporphyria, erythropoietic, X-linked 300752
Mitochondrial disorders v1.426 ALAS2 Sarah Leigh Publications for gene: ALAS2 were set to
Mitochondrial disorders v1.425 ABCB6 Sarah Leigh Phenotypes for gene: ABCB6 were changed from to Dyschromatosis universalis hereditaria 3 615402; Microphthalmia, isolated, with coloboma 7 614497; Pseudohyperkalemia, familial, 2, due to red cell leak 609153
Mitochondrial disorders v1.425 ABCB6 Sarah Leigh Publications for gene: ABCB6 were set to
Mitochondrial disorders v1.424 AK2 Sarah Leigh changed review comment from: Reticular dysgenesis 267500 can be classified as a mitochondriopathy according to PMID 19043417. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 13 variants reported.; to: Reticular dysgenesis 267500 can be classified as a mitochondriopathy according to PMID 19043417. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 13 variants reported.

However, the phenotype (reticular dysgenesis) is not likely to suggest a non-specific mitochondrial disorder
(comments from Anna de Burca, Genomics England Clinical Fellow).
Mitochondrial disorders v1.424 AK2 Sarah Leigh Phenotypes for gene: AK2 were changed from to Reticular dysgenesis 267500
Mitochondrial disorders v1.424 AK2 Sarah Leigh Publications for gene: AK2 were set to
Mitochondrial disorders v1.423 XRCC4 Sarah Leigh reviewed gene: XRCC4: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Short stature, microcephaly, and endocrine dysfunction 616541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 TRAK1 Sarah Leigh reviewed gene: TRAK1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 29846532; Phenotypes: Epileptic encephalopathy, early infantile, 68 618201; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 STXBP1 Sarah Leigh reviewed gene: STXBP1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Epileptic encephalopathy, early infantile, 4 612164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mitochondrial disorders v1.423 SLC44A1 Sarah Leigh reviewed gene: SLC44A1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 28097321; Phenotypes: mild ID, macrocephaly, acanthosis nigricans, accessory mamilla, muscular hypotonia, frontotemporal cerebral atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 SLC39A8 Sarah Leigh reviewed gene: SLC39A8: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Congenital disorder of glycosylation, type IIn 616721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 SLC33A1 Sarah Leigh reviewed gene: SLC33A1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Congenital cataracts, hearing loss, and neurodegeneration 614482, Spastic paraplegia 42, autosomal dominant 612539 AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 SLC25A24 Sarah Leigh reviewed gene: SLC25A24: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 29100093, 29100094; Phenotypes: Fontaine progeroid syndrome 612289; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mitochondrial disorders v1.423 SLC25A10 Sarah Leigh reviewed gene: SLC25A10: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 29211846 ; Phenotypes: intractable epileptic encephalopathy with complex I deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 SEPSECS Sarah Leigh reviewed gene: SEPSECS: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 29464431, 20920667; Phenotypes: Pontocerebellar hypoplasia type 2D 613811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 SECISBP2 Sarah Leigh reviewed gene: SECISBP2: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 29882503, 16228000; Phenotypes: Thyroid hormone metabolism, abnormal 609698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 PTRH2 Sarah Leigh reviewed gene: PTRH2: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 28328138, 31057140, 25558065; Phenotypes: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 616263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 PLA2G6 Sarah Leigh reviewed gene: PLA2G6: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Infantile neuroaxonal dystrophy 1 256600, Neurodegeneration with brain iron accumulation 2B 610217, Parkinson disease 14, autosomal recessive 612953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 PDE12 Sarah Leigh reviewed gene: PDE12: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 28745585; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.423 PAM16 Sarah Leigh reviewed gene: PAM16: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 27354339; Phenotypes: Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 613320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 NAXD Sarah Leigh reviewed gene: NAXD: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 30576410; Phenotypes: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 618321; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 MICU2 Sarah Leigh reviewed gene: MICU2: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 29053821; Phenotypes: severe cognitive impairment and spasticity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 KIF5A Sarah Leigh reviewed gene: KIF5A: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Myoclonus, intractable, neonatal 617235, Spastic paraplegia 10, autosomal dominant 604187, {Amyotrophic lateral sclerosis, susceptibility to, 25} 617921; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mitochondrial disorders v1.423 IARS Sarah Leigh reviewed gene: IARS: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy 617093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 HSPE1 Sarah Leigh reviewed gene: HSPE1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 27774450; Phenotypes: Neurological and Developmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mitochondrial disorders v1.423 GUF1 Sarah Leigh reviewed gene: GUF1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 26486472; Phenotypes: ?Epileptic encephalopathy, early infantile, 40 617065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 FGF12 Sarah Leigh reviewed gene: FGF12: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 27164707, 27872899; Phenotypes: Epileptic encephalopathy, early infantile, 47 617166; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mitochondrial disorders v1.423 FA2H Sarah Leigh reviewed gene: FA2H: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Spastic paraplegia 35, autosomal recessive 612319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 DIAPH1 Sarah Leigh reviewed gene: DIAPH1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 27808407, 26912466; Phenotypes: Deafness, autosomal dominant 1 124900, Seizures, cortical blindness, microcephaly syndrome 616632; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 DIABLO Sarah Leigh reviewed gene: DIABLO: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 23510774; Phenotypes: Deafness, autosomal dominant 64 614152; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mitochondrial disorders v1.423 CYP24A1 Sarah Leigh reviewed gene: CYP24A1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Hypercalcemia, infantile, 1 143880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 CTBP1 Sarah Leigh reviewed gene: CTBP1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 27094857, 29291004; Phenotypes: Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 617915; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mitochondrial disorders v1.423 CRAT Sarah Leigh reviewed gene: CRAT: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 29395073; Phenotypes: ?Neurodegeneration with brain iron accumulation 8 617917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 CLPX Sarah Leigh reviewed gene: CLPX: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 28874591, 25957689; Phenotypes: ?Protoporphyria, erythropoietic, 2 618015; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mitochondrial disorders v1.423 BDH1 Sarah Leigh reviewed gene: BDH1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 29501613, 21285140 ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.423 USMG5 Sarah Leigh reviewed gene: USMG5: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 29917077, 30240627; Phenotypes: Autosomal recessive Leigh syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 ALDH18A1 Sarah Leigh reviewed gene: ALDH18A1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Cutis laxa, autosomal dominant 3 616603, Cutis laxa, autosomal recessive, type IIIA 219150, Spastic paraplegia 9A, autosomal dominant 601162, Spastic paraplegia 9B, autosomal recessive 616586; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 ALAS2 Sarah Leigh reviewed gene: ALAS2: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Anemia, sideroblastic, 1 300751, Protoporphyria, erythropoietic, X-linked 300752; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mitochondrial disorders v1.423 AK2 Sarah Leigh reviewed gene: AK2: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 19043417; Phenotypes: Reticular dysgenesis 267500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 ABCB6 Sarah Leigh reviewed gene: ABCB6: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Dyschromatosis universalis hereditaria 3 615402, Microphthalmia, isolated, with coloboma 7 614497, Pseudohyperkalemia, familial, 2, due to red cell leak 609153; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mitochondrial disorders v1.422 XRCC4 Sarah Leigh gene: XRCC4 was added
gene: XRCC4 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: XRCC4 was set to
Mitochondrial disorders v1.422 TRAK1 Sarah Leigh gene: TRAK1 was added
gene: TRAK1 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: TRAK1 was set to
Mitochondrial disorders v1.422 STXBP1 Sarah Leigh gene: STXBP1 was added
gene: STXBP1 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: STXBP1 was set to
Mitochondrial disorders v1.422 SLC44A1 Sarah Leigh gene: SLC44A1 was added
gene: SLC44A1 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: SLC44A1 was set to
Mitochondrial disorders v1.422 SLC39A8 Sarah Leigh gene: SLC39A8 was added
gene: SLC39A8 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: SLC39A8 was set to
Mitochondrial disorders v1.422 SLC33A1 Sarah Leigh gene: SLC33A1 was added
gene: SLC33A1 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: SLC33A1 was set to
Mitochondrial disorders v1.422 SLC25A24 Sarah Leigh gene: SLC25A24 was added
gene: SLC25A24 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: SLC25A24 was set to
Mitochondrial disorders v1.422 SLC25A10 Sarah Leigh gene: SLC25A10 was added
gene: SLC25A10 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: SLC25A10 was set to
Mitochondrial disorders v1.422 SEPSECS Sarah Leigh gene: SEPSECS was added
gene: SEPSECS was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: SEPSECS was set to
Mitochondrial disorders v1.422 SECISBP2 Sarah Leigh gene: SECISBP2 was added
gene: SECISBP2 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: SECISBP2 was set to
Mitochondrial disorders v1.422 PTRH2 Sarah Leigh gene: PTRH2 was added
gene: PTRH2 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: PTRH2 was set to
Mitochondrial disorders v1.422 PLA2G6 Sarah Leigh gene: PLA2G6 was added
gene: PLA2G6 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: PLA2G6 was set to
Mitochondrial disorders v1.422 PDE12 Sarah Leigh gene: PDE12 was added
gene: PDE12 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: PDE12 was set to
Mitochondrial disorders v1.422 PAM16 Sarah Leigh gene: PAM16 was added
gene: PAM16 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: PAM16 was set to
Mitochondrial disorders v1.422 NAXD Sarah Leigh gene: NAXD was added
gene: NAXD was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: NAXD was set to
Mitochondrial disorders v1.422 MICU2 Sarah Leigh gene: MICU2 was added
gene: MICU2 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: MICU2 was set to
Mitochondrial disorders v1.422 KIF5A Sarah Leigh gene: KIF5A was added
gene: KIF5A was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: KIF5A was set to
Mitochondrial disorders v1.422 IARS Sarah Leigh gene: IARS was added
gene: IARS was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: IARS was set to
Mitochondrial disorders v1.422 HSPE1 Sarah Leigh gene: HSPE1 was added
gene: HSPE1 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: HSPE1 was set to
Mitochondrial disorders v1.422 GUF1 Sarah Leigh gene: GUF1 was added
gene: GUF1 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: GUF1 was set to
Mitochondrial disorders v1.422 FGF12 Sarah Leigh gene: FGF12 was added
gene: FGF12 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: FGF12 was set to
Mitochondrial disorders v1.422 FA2H Sarah Leigh gene: FA2H was added
gene: FA2H was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: FA2H was set to
Mitochondrial disorders v1.422 DIAPH1 Sarah Leigh gene: DIAPH1 was added
gene: DIAPH1 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: DIAPH1 was set to
Mitochondrial disorders v1.422 DIABLO Sarah Leigh gene: DIABLO was added
gene: DIABLO was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: DIABLO was set to
Mitochondrial disorders v1.422 CYP24A1 Sarah Leigh gene: CYP24A1 was added
gene: CYP24A1 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: CYP24A1 was set to
Mitochondrial disorders v1.422 CTBP1 Sarah Leigh gene: CTBP1 was added
gene: CTBP1 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: CTBP1 was set to
Mitochondrial disorders v1.422 CRAT Sarah Leigh gene: CRAT was added
gene: CRAT was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: CRAT was set to
Mitochondrial disorders v1.422 CLPX Sarah Leigh gene: CLPX was added
gene: CLPX was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: CLPX was set to
Mitochondrial disorders v1.422 BDH1 Sarah Leigh gene: BDH1 was added
gene: BDH1 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: BDH1 was set to
Mitochondrial disorders v1.422 USMG5 Sarah Leigh gene: USMG5 was added
gene: USMG5 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: USMG5 was set to
Mitochondrial disorders v1.422 ALDH18A1 Sarah Leigh gene: ALDH18A1 was added
gene: ALDH18A1 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: ALDH18A1 was set to
Mitochondrial disorders v1.422 ALAS2 Sarah Leigh gene: ALAS2 was added
gene: ALAS2 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: ALAS2 was set to
Mitochondrial disorders v1.422 AK2 Sarah Leigh gene: AK2 was added
gene: AK2 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: AK2 was set to
Mitochondrial disorders v1.422 ABCB6 Sarah Leigh gene: ABCB6 was added
gene: ABCB6 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: ABCB6 was set to
Mitochondrial disorders v1.421 MTPAP Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM
Mitochondrial disorders v1.421 MTPAP Ellen McDonagh Mode of inheritance for gene: MTPAP was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.420 TANGO2 Sarah Leigh Classified gene: TANGO2 as Red List (low evidence)
Mitochondrial disorders v1.420 TANGO2 Sarah Leigh Added comment: Comment on list classification: TANGO2 is rated as Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). It is associated with Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878, which is not considered a primary mitochondrial disorder.
Mitochondrial disorders v1.420 TANGO2 Sarah Leigh Gene: tango2 has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.419 STAT2 Sarah Leigh Classified gene: STAT2 as Red List (low evidence)
Mitochondrial disorders v1.419 STAT2 Sarah Leigh Added comment: Comment on list classification: STAT2 is rated as Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). Although it is associated with elongated mitochondria, the Immunodeficiency 44 616636 phenotype is not appropriate for this panel.
Mitochondrial disorders v1.419 STAT2 Sarah Leigh Gene: stat2 has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.418 ROBO3 Sarah Leigh Classified gene: ROBO3 as Red List (low evidence)
Mitochondrial disorders v1.418 ROBO3 Sarah Leigh Added comment: Comment on list classification: ROBO3 is being demoted to Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). As it is associated with Gaze palsy, familial horizontal, with progressive scoliosis, 1 607313, which is not appropriate for this panel.
Mitochondrial disorders v1.418 ROBO3 Sarah Leigh Gene: robo3 has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.417 IER3IP1 Sarah Leigh Classified gene: IER3IP1 as Red List (low evidence)
Mitochondrial disorders v1.417 IER3IP1 Sarah Leigh Added comment: Comment on list classification: IER3IP1 is being demoted to Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). As it is associated with Microcephaly, epilepsy, and diabetes syndrome 614231, which is not technically a mitochondrial disorder, as the phenotype is quite different to other mitochondrial conditions.
Mitochondrial disorders v1.417 IER3IP1 Sarah Leigh Gene: ier3ip1 has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.416 HMGCL Sarah Leigh Classified gene: HMGCL as Red List (low evidence)
Mitochondrial disorders v1.416 HMGCL Sarah Leigh Added comment: Comment on list classification: HMGCL is being demoted to Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). It is associated with HMG-CoA lyase deficiency 246450, with microcephaly, seizures & metabolic disturbance. Although this is technically a mitochondrial disorder, the phenotype is quite different to other mitochondrial conditions.
Mitochondrial disorders v1.416 HMGCL Sarah Leigh Gene: hmgcl has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.415 HMGCL Sarah Leigh Classified gene: HMGCL as Red List (low evidence)
Mitochondrial disorders v1.415 HMGCL Sarah Leigh Added comment: Comment on list classification: HMGCL is being demoted to Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). It is associated with HMG-CoA lyase deficiency 246450, with microcephaly, seizures & metabolic disturbance. Although this is technically a mitochondrial disorder, the phenotype is quite different to other mitochondrial conditions.
Mitochondrial disorders v1.415 HMGCL Sarah Leigh Gene: hmgcl has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.414 FXN_GAA Sarah Leigh Classified STR: FXN_GAA as Red List (low evidence)
Mitochondrial disorders v1.414 FXN_GAA Sarah Leigh Added comment: Comment on list classification: FXN_GAA is being demoted to Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). As it is associated with Friedreich’s ataxia, which is technically a mitochondrial disorder, but the phenotype is quite different to other mitochondrial conditions.
Mitochondrial disorders v1.414 FXN_GAA Sarah Leigh Str: fxn_gaa has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.413 FXN Sarah Leigh Classified gene: FXN as Red List (low evidence)
Mitochondrial disorders v1.413 FXN Sarah Leigh Added comment: Comment on list classification: FXN is being demoted to Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). As it is associated with Friedreich’s ataxia, which is technically a mitochondrial disorder, but the phenotype is quite different to other mitochondrial conditions.
Mitochondrial disorders v1.413 FXN Sarah Leigh Gene: fxn has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.412 YME1L1 Sarah Leigh reviewed gene: YME1L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 WFS1 Sarah Leigh reviewed gene: WFS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 UQCR11 Sarah Leigh reviewed gene: UQCR11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 UQCR10 Sarah Leigh reviewed gene: UQCR10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 UQCC1 Sarah Leigh reviewed gene: UQCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 TMEM65 Sarah Leigh reviewed gene: TMEM65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 TIMM22 Sarah Leigh reviewed gene: TIMM22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 TFAM Sarah Leigh reviewed gene: TFAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 SSBP1 Sarah Leigh reviewed gene: SSBP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 SLC52A3 Sarah Leigh reviewed gene: SLC52A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 SLC52A2 Sarah Leigh reviewed gene: SLC52A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 SLC25A21 Sarah Leigh reviewed gene: SLC25A21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 SLC25A20 Sarah Leigh reviewed gene: SLC25A20: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 SLC22A5 Sarah Leigh reviewed gene: SLC22A5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 SDHAF4 Sarah Leigh reviewed gene: SDHAF4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 SDHAF3 Sarah Leigh reviewed gene: SDHAF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 PTCD3 Sarah Leigh reviewed gene: PTCD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 PPOX Sarah Leigh reviewed gene: PPOX: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 POLRMT Sarah Leigh reviewed gene: POLRMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 OXCT1 Sarah Leigh reviewed gene: OXCT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 NSUN3 Sarah Leigh reviewed gene: NSUN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 NDUFAF7 Sarah Leigh reviewed gene: NDUFAF7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 MRPS14 Sarah Leigh reviewed gene: MRPS14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 MRM2 Sarah Leigh reviewed gene: MRM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 L2HGDH Sarah Leigh reviewed gene: L2HGDH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 IDH3A Sarah Leigh reviewed gene: IDH3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 HTT Sarah Leigh reviewed gene: HTT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 HMGCS2 Sarah Leigh reviewed gene: HMGCS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 HADHB Sarah Leigh reviewed gene: HADHB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 HADHA Sarah Leigh reviewed gene: HADHA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 HADH Sarah Leigh reviewed gene: HADH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 ETFB Sarah Leigh reviewed gene: ETFB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 ETFA Sarah Leigh reviewed gene: ETFA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 ERAL1 Sarah Leigh reviewed gene: ERAL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 D2HGDH Sarah Leigh reviewed gene: D2HGDH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 CPT2 Sarah Leigh reviewed gene: CPT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 CPT1A Sarah Leigh reviewed gene: CPT1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 COX6B2 Sarah Leigh reviewed gene: COX6B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 COX6A2 Sarah Leigh reviewed gene: COX6A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 COX19 Sarah Leigh reviewed gene: COX19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 COX18 Sarah Leigh reviewed gene: COX18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 COX17 Sarah Leigh reviewed gene: COX17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 COX16 Sarah Leigh reviewed gene: COX16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 COX11 Sarah Leigh reviewed gene: COX11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 COQ5 Sarah Leigh reviewed gene: COQ5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 COASY Sarah Leigh reviewed gene: COASY: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 COA4 Sarah Leigh reviewed gene: COA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 CISD2 Sarah Leigh reviewed gene: CISD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 ATPAF1 Sarah Leigh reviewed gene: ATPAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 ATP5L2 Sarah Leigh reviewed gene: ATP5L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 ATP5L Sarah Leigh reviewed gene: ATP5L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 ATP5J2 Sarah Leigh reviewed gene: ATP5J2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 ATP5H Sarah Leigh reviewed gene: ATP5H: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 ATP5F1 Sarah Leigh reviewed gene: ATP5F1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 ACAT1 Sarah Leigh reviewed gene: ACAT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 ACADVL Sarah Leigh reviewed gene: ACADVL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 ACADSB Sarah Leigh reviewed gene: ACADSB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 ACADS Sarah Leigh reviewed gene: ACADS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 ACADM Sarah Leigh reviewed gene: ACADM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.411 YME1L1 Sarah Leigh gene: YME1L1 was added
gene: YME1L1 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: YME1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: YME1L1 were set to ?Optic atrophy 11, 617302
Mitochondrial disorders v1.411 WFS1 Sarah Leigh gene: WFS1 was added
gene: WFS1 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: WFS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: WFS1 were set to Wolfram syndrome 1, 222300; Deafness, autosomal dominant 6/14/38, 600965; Wolfram-like syndrome, autosomal dominant, 614296
Mitochondrial disorders v1.411 UQCR11 Sarah Leigh gene: UQCR11 was added
gene: UQCR11 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: UQCR11 was set to Unknown
Phenotypes for gene: UQCR11 were set to No OMIM phenotype
Mitochondrial disorders v1.411 UQCR10 Sarah Leigh gene: UQCR10 was added
gene: UQCR10 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: UQCR10 was set to Unknown
Phenotypes for gene: UQCR10 were set to No OMIM phenotype
Mitochondrial disorders v1.411 UQCC1 Sarah Leigh gene: UQCC1 was added
gene: UQCC1 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: UQCC1 was set to Unknown
Phenotypes for gene: UQCC1 were set to No OMIM phenotype
Mitochondrial disorders v1.411 TMEM65 Sarah Leigh gene: TMEM65 was added
gene: TMEM65 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
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
Mitochondrial disorders v1.411 TIMM22 Sarah Leigh gene: TIMM22 was added
gene: TIMM22 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
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
Mitochondrial disorders v1.411 TFAM Sarah Leigh gene: TFAM was added
gene: TFAM was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
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
Mitochondrial disorders v1.411 SSBP1 Sarah Leigh gene: SSBP1 was added
gene: SSBP1 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: SSBP1 was set to Unknown
Publications for gene: SSBP1 were set to 29182774
Phenotypes for gene: SSBP1 were set to No OMIM phenotype
Mitochondrial disorders v1.411 SLC52A3 Sarah Leigh gene: SLC52A3 was added
gene: SLC52A3 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
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
Mitochondrial disorders v1.411 SLC52A2 Sarah Leigh gene: SLC52A2 was added
gene: SLC52A2 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
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
Mitochondrial disorders v1.411 SLC25A21 Sarah Leigh gene: SLC25A21 was added
gene: SLC25A21 was added to Mitochondrial disorders. 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
Mitochondrial disorders v1.411 SLC25A20 Sarah Leigh gene: SLC25A20 was added
gene: SLC25A20 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
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
Mitochondrial disorders v1.411 SLC22A5 Sarah Leigh gene: SLC22A5 was added
gene: SLC22A5 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
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
Mitochondrial disorders v1.411 SDHAF4 Sarah Leigh gene: SDHAF4 was added
gene: SDHAF4 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SDHAF4 was set to Unknown
Phenotypes for gene: SDHAF4 were set to No OMIM phenotype
Mitochondrial disorders v1.411 SDHAF3 Sarah Leigh gene: SDHAF3 was added
gene: SDHAF3 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SDHAF3 was set to Unknown
Phenotypes for gene: SDHAF3 were set to No OMIM phenotype
Mitochondrial disorders v1.411 PTCD3 Sarah Leigh gene: PTCD3 was added
gene: PTCD3 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
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
Mitochondrial disorders v1.411 PPOX Sarah Leigh gene: PPOX was added
gene: PPOX was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
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
Mitochondrial disorders v1.411 POLRMT Sarah Leigh gene: POLRMT was added
gene: POLRMT was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: POLRMT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POLRMT were set to No OMIM phenotype
Mitochondrial disorders v1.411 OXCT1 Sarah Leigh gene: OXCT1 was added
gene: OXCT1 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
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
Mitochondrial disorders v1.411 NSUN3 Sarah Leigh gene: NSUN3 was added
gene: NSUN3 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
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
Mitochondrial disorders v1.411 NDUFAF7 Sarah Leigh gene: NDUFAF7 was added
gene: NDUFAF7 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: NDUFAF7 was set to Unknown
Publications for gene: NDUFAF7 were set to 28837730
Phenotypes for gene: NDUFAF7 were set to No OMIM phenotype
Mitochondrial disorders v1.411 MRPS14 Sarah Leigh gene: MRPS14 was added
gene: MRPS14 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
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
Mitochondrial disorders v1.411 MRM2 Sarah Leigh gene: MRM2 was added
gene: MRM2 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
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
Mitochondrial disorders v1.411 L2HGDH Sarah Leigh gene: L2HGDH was added
gene: L2HGDH was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
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
Mitochondrial disorders v1.411 IDH3A Sarah Leigh gene: IDH3A was added
gene: IDH3A was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
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 Retinitis pigmentosa with macular pseudocoloboma; Infantile encephalopathy
Mitochondrial disorders v1.411 HTT Sarah Leigh gene: HTT was added
gene: HTT was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
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
Mitochondrial disorders v1.411 HMGCS2 Sarah Leigh gene: HMGCS2 was added
gene: HMGCS2 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
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
Mitochondrial disorders v1.411 HADHB Sarah Leigh gene: HADHB was added
gene: HADHB was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, 609015
Mitochondrial disorders v1.411 HADHA Sarah Leigh gene: HADHA was added
gene: HADHA was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHA were set to LCHAD deficiency, 609016; Trifunctional protein deficiency, 609015
Mitochondrial disorders v1.411 HADH Sarah Leigh gene: HADH was added
gene: HADH was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADH were set to 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530; Hyperinsulinemic hypoglycemia, familial, 4, 609975
Mitochondrial disorders v1.411 ETFB Sarah Leigh gene: ETFB was added
gene: ETFB was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFB were set to Glutaric acidemia IIB ,231680
Mitochondrial disorders v1.411 ETFA Sarah Leigh gene: ETFA was added
gene: ETFA was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFA were set to Glutaric acidemia IIA ,231680
Mitochondrial disorders v1.411 ERAL1 Sarah Leigh gene: ERAL1 was added
gene: ERAL1 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ERAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERAL1 were set to Perrault syndrome 6, 617565
Mitochondrial disorders v1.411 D2HGDH Sarah Leigh gene: D2HGDH was added
gene: D2HGDH was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
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
Mitochondrial disorders v1.411 CPT2 Sarah Leigh gene: CPT2 was added
gene: CPT2 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
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
Mitochondrial disorders v1.411 CPT1A Sarah Leigh gene: CPT1A was added
gene: CPT1A was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
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
Mitochondrial disorders v1.411 COX6B2 Sarah Leigh gene: COX6B2 was added
gene: COX6B2 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: COX6B2 was set to Unknown
Phenotypes for gene: COX6B2 were set to No OMIM phenotype
Mitochondrial disorders v1.411 COX6A2 Sarah Leigh gene: COX6A2 was added
gene: COX6A2 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: COX6A2 was set to Unknown
Phenotypes for gene: COX6A2 were set to No OMIM phenotype
Mitochondrial disorders v1.411 COX19 Sarah Leigh gene: COX19 was added
gene: COX19 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: COX19 was set to Unknown
Phenotypes for gene: COX19 were set to No OMIM phenotype
Mitochondrial disorders v1.411 COX18 Sarah Leigh gene: COX18 was added
gene: COX18 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: COX18 was set to Unknown
Phenotypes for gene: COX18 were set to No OMIM phenotype
Mitochondrial disorders v1.411 COX17 Sarah Leigh gene: COX17 was added
gene: COX17 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: COX17 was set to Unknown
Phenotypes for gene: COX17 were set to No OMIM phenotype
Mitochondrial disorders v1.411 COX16 Sarah Leigh gene: COX16 was added
gene: COX16 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: COX16 was set to Unknown
Phenotypes for gene: COX16 were set to No OMIM phenotype
Mitochondrial disorders v1.411 COX11 Sarah Leigh gene: COX11 was added
gene: COX11 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: COX11 was set to Unknown
Phenotypes for gene: COX11 were set to No OMIM phenotype
Mitochondrial disorders v1.411 COQ5 Sarah Leigh gene: COQ5 was added
gene: COQ5 was added to Mitochondrial disorders. 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
Mitochondrial disorders v1.411 COASY Sarah Leigh gene: COASY was added
gene: COASY was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COASY were set to Neurodegeneration with brain iron accumulation 6, 615643; Pontocerebellar hypoplasia, type 12, 618266
Mitochondrial disorders v1.411 COA4 Sarah Leigh gene: COA4 was added
gene: COA4 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: COA4 was set to Unknown
Phenotypes for gene: COA4 were set to No OMIM phenotype
Mitochondrial disorders v1.411 CISD2 Sarah Leigh gene: CISD2 was added
gene: CISD2 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CISD2 were set to Wolfram syndrome 2, 604928
Mitochondrial disorders v1.411 ATPAF1 Sarah Leigh gene: ATPAF1 was added
gene: ATPAF1 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ATPAF1 was set to Unknown
Phenotypes for gene: ATPAF1 were set to No OMIM phenotype
Mitochondrial disorders v1.411 ATP5L2 Sarah Leigh gene: ATP5L2 was added
gene: ATP5L2 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ATP5L2 was set to Unknown
Phenotypes for gene: ATP5L2 were set to No OMIM phenotype
Mitochondrial disorders v1.411 ATP5L Sarah Leigh gene: ATP5L was added
gene: ATP5L was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ATP5L was set to Unknown
Phenotypes for gene: ATP5L were set to No OMIM phenotype
Mitochondrial disorders v1.411 ATP5J2 Sarah Leigh gene: ATP5J2 was added
gene: ATP5J2 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ATP5J2 was set to Unknown
Phenotypes for gene: ATP5J2 were set to No OMIM phenotype
Mitochondrial disorders v1.411 ATP5H Sarah Leigh gene: ATP5H was added
gene: ATP5H was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ATP5H was set to Unknown
Phenotypes for gene: ATP5H were set to No OMIM phenotype
Mitochondrial disorders v1.411 ATP5F1 Sarah Leigh gene: ATP5F1 was added
gene: ATP5F1 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ATP5F1 was set to Unknown
Phenotypes for gene: ATP5F1 were set to No OMIM phenotype
Mitochondrial disorders v1.411 ACAT1 Sarah Leigh gene: ACAT1 was added
gene: ACAT1 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria, 203750
Mitochondrial disorders v1.411 ACADVL Sarah Leigh gene: ACADVL was added
gene: ACADVL was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADVL were set to VLCAD deficiency, 201475
Mitochondrial disorders v1.411 ACADSB Sarah Leigh gene: ACADSB was added
gene: ACADSB was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADSB were set to 2-methylbutyrylglycinuria, 610006
Mitochondrial disorders v1.411 ACADS Sarah Leigh gene: ACADS was added
gene: ACADS was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
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
Mitochondrial disorders v1.411 ACADM Sarah Leigh gene: ACADM was added
gene: ACADM was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
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
Mitochondrial disorders v1.410 PITRM1 Catherine Snow Classified gene: PITRM1 as Green List (high evidence)
Mitochondrial disorders v1.410 PITRM1 Catherine Snow Added comment: Comment on list classification: PITRM1 identified by expert review by Konstantinos Varvagiannis on Intellectual Disability Panel https://panelapp.genomicsengland.co.uk/panels/285/.

Currently no OMIM or G2P phenotypes terms associated with the gene.

PMID: 29764912 reports on 2 consanguineous Palestinian families each with 2 affected boys. Both Palenstinian families are from Arab descent but are from different locale. PMID: 26697887 reports 2 siblings from a consanguineous Norwegian family homozygous for a missense variant (NM_014889.2:c.548G> or p.Arg183Gln). Although there is some functional work (PMID: 29383861) phenotypes are varied in severity.

There are sufficient unrelated families (>3) for PITRM1 to be classified as Green and PITRM1 is a mitochondrial matrix enzyme so therefore relevant to this panel.
Mitochondrial disorders v1.410 PITRM1 Catherine Snow Gene: pitrm1 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.409 PITRM1 Catherine Snow Publications for gene: PITRM1 were set to 26697887; 29764912; 29383861
Mitochondrial disorders v1.409 PITRM1 Catherine Snow Publications for gene: PITRM1 were set to PMID: 26697887
Mitochondrial disorders v1.408 SDHB Sarah Leigh Classified gene: SDHB as Amber List (moderate evidence)
Mitochondrial disorders v1.408 SDHB Sarah Leigh 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 (May 2019).
Mitochondrial disorders v1.408 SDHB Sarah Leigh Gene: sdhb has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.407 SDHB Sarah Leigh Publications for gene: SDHB were set to 26925370; 22972948
Mitochondrial disorders v1.407 SDHB Sarah Leigh Publications for gene: SDHB were set to PMID: 26925370; 22972948
Mitochondrial disorders v1.406 MTPAP Sarah Leigh Phenotypes for gene: MTPAP were changed from Ataxia, spastic, 4, 613672 to ?Spastic ataxia 4, autosomal recessive 613672
Mitochondrial disorders v1.405 MTPAP Sarah Leigh Classified gene: MTPAP as Green List (high evidence)
Mitochondrial disorders v1.405 MTPAP Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 2 variants identified in unrelated cases, and supportive functional studies.
Mitochondrial disorders v1.405 MTPAP Sarah Leigh Gene: mtpap has been classified as Green List (High Evidence).
Mitochondrial disorders v1.404 IARS2 Sarah Leigh Classified gene: IARS2 as Green List (high evidence)
Mitochondrial disorders v1.404 IARS2 Sarah Leigh Added comment: Comment on list classification: Based on additional variants in publications reported by Zornitza Stark (Australian Genomics).
Mitochondrial disorders v1.404 IARS2 Sarah Leigh Gene: iars2 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.403 GATM Sarah Leigh Classified gene: GATM as Red List (low evidence)
Mitochondrial disorders v1.403 GATM Sarah Leigh Added comment: Comment on list classification: Additional phenocopy gene identified, phenotype is not particularly relevant
Mitochondrial disorders v1.403 GATM Sarah Leigh Gene: gatm has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.402 PARS2 Eleanor Williams Phenotypes for gene: PARS2 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype; Alpers syndrome; Epileptic encephalopathy, early infantile, 75, 618437 to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Alpers syndrome; Epileptic encephalopathy, early infantile, 75, 618437
Mitochondrial disorders v1.401 PARS2 Eleanor Williams Added comment: Comment on phenotypes: Phenotype added to OMIM in May 2019
Mitochondrial disorders v1.401 PARS2 Eleanor Williams Phenotypes for gene: PARS2 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype; Alpers syndrome. to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype; Alpers syndrome; Epileptic encephalopathy, early infantile, 75, 618437
Mitochondrial disorders v1.400 MTPAP Sarah Leigh Publications for gene: MTPAP were set to 20970105; 25008111; 26319014
Mitochondrial disorders v1.399 IARS2 Sarah Leigh Classified gene: IARS2 as Amber List (moderate evidence)
Mitochondrial disorders v1.399 IARS2 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 2 variants reported, together with supportive functional studies.
Mitochondrial disorders v1.399 IARS2 Sarah Leigh Gene: iars2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.398 IARS2 Sarah Leigh Added comment: Comment on phenotypes: ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 616007, also known as CAGSSS
Mitochondrial disorders v1.398 IARS2 Sarah Leigh Phenotypes for gene: IARS2 were changed from No OMIM phenotype; CAGSSS - Cataracts (CA), growth hormone deficiency (G), sensory neuropathy (S), sensorineural hearing loss (S), and skeletal dysplasia (S) to ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 616007
Mitochondrial disorders v1.397 IARS2 Sarah Leigh changed review comment from: Comment on publications: PMID: 25130867 (3 related cases with CAGSSS homozygous for a rare nonsynonymous variant in this gene, an unrelated case with Leigh syndrome compound heterozygous for variants within this gene)
PMID: 27078007 (full text not available to confirm findings).; to: Comment on publications: PMID: 25130867 (3 related cases with CAGSSS homozygous for a rare nonsynonymous variant in this gene, an unrelated case with Leigh syndrome compound heterozygous for variants within this gene)
PMID: 27078007 reports the phenotypical classification of case of Infantile Cataract, Congenital Neurotrophic Keratitis, and Orbital Myopathy in one of the cases mentioned in PMID: 25130867.
.
Mitochondrial disorders v1.397 IARS2 Sarah Leigh Added comment: Comment on publications: PMID: 25130867 (3 related cases with CAGSSS homozygous for a rare nonsynonymous variant in this gene, an unrelated case with Leigh syndrome compound heterozygous for variants within this gene)
PMID: 27078007 (full text not available to confirm findings).
Mitochondrial disorders v1.397 IARS2 Sarah Leigh Publications for gene: IARS2 were set to PMID: 25130867 (3 related cases with CAGSSS homozygous for a rare nonsynonymous variant in this gene, an unrelated case with Leigh syndrome compound heterozygous for variants within this gene); PMID: 27078007 (full text not available to confirm findings).
Mitochondrial disorders v1.394 VPS13C Sarah Leigh Classified gene: VPS13C as Red List (low evidence)
Mitochondrial disorders v1.394 VPS13C Sarah Leigh Added comment: Comment on list classification: This gene was demoted from Green to Red, based on the reviews of clinical experts.
Mitochondrial disorders v1.394 VPS13C Sarah Leigh Gene: vps13c has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.393 GLUD1 Sarah Leigh Classified gene: GLUD1 as Red List (low evidence)
Mitochondrial disorders v1.393 GLUD1 Sarah Leigh Added comment: Comment on list classification: This gene was demoted from Green to Red, based on the reviews of clinical experts.
Mitochondrial disorders v1.393 GLUD1 Sarah Leigh Gene: glud1 has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.392 DHTKD1 Sarah Leigh Classified gene: DHTKD1 as Red List (low evidence)
Mitochondrial disorders v1.392 DHTKD1 Sarah Leigh Added comment: Comment on list classification: This gene was demoted from Green to Red, based on the reviews of clinical experts.
Mitochondrial disorders v1.392 DHTKD1 Sarah Leigh Gene: dhtkd1 has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.391 DARS Sarah Leigh Classified gene: DARS as Red List (low evidence)
Mitochondrial disorders v1.391 DARS Sarah Leigh Added comment: Comment on list classification: This gene was demoted from Green to Red, based on the reviews of clinical experts.
Mitochondrial disorders v1.391 DARS Sarah Leigh Gene: dars has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.390 CHKB Sarah Leigh Classified gene: CHKB as Red List (low evidence)
Mitochondrial disorders v1.390 CHKB Sarah Leigh Added comment: Comment on list classification: This gene was demoted from Green to Red, based on the reviews of clinical experts.
Mitochondrial disorders v1.390 CHKB Sarah Leigh Gene: chkb has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.389 C19orf12 Sarah Leigh Classified gene: C19orf12 as Red List (low evidence)
Mitochondrial disorders v1.389 C19orf12 Sarah Leigh Added comment: Comment on list classification: This gene was demoted from Green to Red, based on the reviews of clinical experts.
Mitochondrial disorders v1.389 C19orf12 Sarah Leigh Gene: c19orf12 has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.388 VPS13C Anna de Burca reviewed gene: VPS13C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 23, autosomal recessive, early onset, 616840; Mode of inheritance:
Mitochondrial disorders v1.388 TANGO2 Anna de Burca reviewed gene: TANGO2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878; Mode of inheritance:
Mitochondrial disorders v1.388 STAT2 Anna de Burca reviewed gene: STAT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Immunodeficiency 44, 616636; Mode of inheritance:
Mitochondrial disorders v1.388 ROBO3 Anna de Burca reviewed gene: ROBO3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313; Mode of inheritance:
Mitochondrial disorders v1.388 IER3IP1 Anna de Burca reviewed gene: IER3IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Microcephaly, epilepsy, and diabetes syndrome, 614231; Mode of inheritance:
Mitochondrial disorders v1.388 HMGCL Anna de Burca reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HMG-CoA lyase deficiency, 246450; Mode of inheritance:
Mitochondrial disorders v1.388 GLUD1 Anna de Burca reviewed gene: GLUD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperinsulinism-hyperammonemia syndrome, 606762; Mode of inheritance:
Mitochondrial disorders v1.388 FXN Anna de Burca reviewed gene: FXN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Friedreich ataxia, 229300; Mode of inheritance:
Mitochondrial disorders v1.388 DHTKD1 Anna de Burca 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:
Mitochondrial disorders v1.388 DARS Anna de Burca reviewed gene: DARS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281; Mode of inheritance:
Mitochondrial disorders v1.388 CHKB Anna de Burca reviewed gene: CHKB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular dystrophy, congenital, megaconial type, 602541; Mode of inheritance:
Mitochondrial disorders v1.388 C19orf12 Anna de Burca 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:
Mitochondrial disorders v1.387 PYCR1 Ellen McDonagh Classified gene: PYCR1 as Red List (low evidence)
Mitochondrial disorders v1.387 PYCR1 Ellen McDonagh Added comment: Comment on list classification: Demoted from Green to Red due to review from the GMS mitochondrial specialist group review, submitted by Carl Fratter on 11th June 2019, and agreement with Anna De Burca and Helen Brittain in the Genomics England Clinical Team on 14th June 2019. This is not considered a mitochondrial disease and is covered as Green by other gene panels.
Mitochondrial disorders v1.387 PYCR1 Ellen McDonagh Gene: pycr1 has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.386 SLC25A22 Ellen McDonagh Classified gene: SLC25A22 as Red List (low evidence)
Mitochondrial disorders v1.386 SLC25A22 Ellen McDonagh Gene: slc25a22 has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.385 SLC25A22 Ellen McDonagh Classified gene: SLC25A22 as Amber List (moderate evidence)
Mitochondrial disorders v1.385 SLC25A22 Ellen McDonagh Added comment: Comment on list classification: Demoted from Green to Amber due to review from the GMS mitochondrial specialist group review, submitted by Carl Fratter, and agreement with Anna De Burca and Helen Brittain in the Genomics England Clinical Team.
Mitochondrial disorders v1.385 SLC25A22 Ellen McDonagh Gene: slc25a22 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.384 VPS13C Carl Fratter reviewed gene: VPS13C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 23, autosomal recessive, early onset, 616840; Mode of inheritance:
Mitochondrial disorders v1.384 TANGO2 Carl Fratter reviewed gene: TANGO2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878; Mode of inheritance:
Mitochondrial disorders v1.384 STAT2 Carl Fratter reviewed gene: STAT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Immunodeficiency 44, 616636; Mode of inheritance:
Mitochondrial disorders v1.384 SLC25A22 Carl Fratter reviewed gene: SLC25A22: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 3, 609304; Mode of inheritance:
Mitochondrial disorders v1.384 ROBO3 Carl Fratter reviewed gene: ROBO3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313; Mode of inheritance:
Mitochondrial disorders v1.384 PYCR1 Carl Fratter 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:
Mitochondrial disorders v1.384 IER3IP1 Carl Fratter reviewed gene: IER3IP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Microcephaly, epilepsy, and diabetes syndrome, 614231; Mode of inheritance:
Mitochondrial disorders v1.384 HMGCL Carl Fratter reviewed gene: HMGCL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: HMG-CoA lyase deficiency, 246450; Mode of inheritance:
Mitochondrial disorders v1.384 GLUD1 Carl Fratter reviewed gene: GLUD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperinsulinism-hyperammonemia syndrome, 606762; Mode of inheritance:
Mitochondrial disorders v1.384 FXN Carl Fratter reviewed gene: FXN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Friedreich ataxia, 229300; Mode of inheritance:
Mitochondrial disorders v1.384 DHTKD1 Carl Fratter 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:
Mitochondrial disorders v1.384 DARS Carl Fratter reviewed gene: DARS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281; Mode of inheritance:
Mitochondrial disorders v1.384 CHKB Carl Fratter reviewed gene: CHKB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular dystrophy, congenital, megaconial type, 602541; Mode of inheritance:
Mitochondrial disorders v1.384 C19orf12 Carl Fratter 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:
Mitochondrial disorders v1.383 NDUFB10 Ellen McDonagh Publications for gene: NDUFB10 were set to
Mitochondrial disorders v1.382 NDUFA8 Ellen McDonagh Publications for gene: NDUFA8 were set to
Mitochondrial disorders v1.381 SLC25A42 Ellen McDonagh Publications for gene: SLC25A42 were set to 29923093; 29327420; 26541337
Mitochondrial disorders v1.380 SLC25A42 Ellen McDonagh Added comment: Comment on phenotypes: Now in OMIM associated with the phenotype Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression.
Mitochondrial disorders v1.380 SLC25A42 Ellen McDonagh Phenotypes for gene: SLC25A42 were changed from mitochondrial myopathy to mitochondrial myopathy; Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 618416
Mitochondrial disorders v1.379 NADK2 Ellen McDonagh commented on gene: NADK2
Mitochondrial disorders v1.379 NADK2 Ellen McDonagh Tag treatable tag was added to gene: NADK2.
Mitochondrial disorders v1.379 GFM2 Ellen McDonagh Publications for gene: GFM2 were set to 29075935, 22700954, 26016410
Mitochondrial disorders v1.378 UQCRQ Sarah Leigh Phenotypes for gene: UQCRQ were changed from Isolated complex III deficiency; Mitochondrial complex III deficiency, nuclear type 4, 615159; Mitochondrial Respiratory Chain Complex III Deficiency; Mitochondrial Diseases to Mitochondrial complex III deficiency, nuclear type 4, 615159
Mitochondrial disorders v1.377 UQCRQ Sarah Leigh Classified gene: UQCRQ as Amber List (moderate evidence)
Mitochondrial disorders v1.377 UQCRQ Sarah Leigh Added comment: Comment on list classification: This gene has been demoted to Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorders v1.377 UQCRQ Sarah Leigh Gene: uqcrq has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.376 UQCRQ Sarah Leigh Publications for gene: UQCRQ were set to
Mitochondrial disorders v1.375 CHKB Ellen McDonagh Publications for gene: CHKB were set to
Mitochondrial disorders v1.374 UQCRB Sarah Leigh Phenotypes for gene: UQCRB were changed from Isolated complex III deficiency; Mitochondrial complex III deficiency, nuclear type 3, 615158; Mitochondrial Diseases to Mitochondrial complex III deficiency, nuclear type 3, 615158
Mitochondrial disorders v1.373 UQCRB Sarah Leigh Publications for gene: UQCRB were set to 12709789; 25446085; 23454382
Mitochondrial disorders v1.372 UQCRB Sarah Leigh Added comment: Comment on publications: PMID: 12709789 (case report);PMID: 25446085 (functional study);PMID: 23454382 (functional study)
Mitochondrial disorders v1.372 UQCRB Sarah Leigh Publications for gene: UQCRB were set to PMID: 12709789 (case report); PMID: 25446085 (functional study); PMID: 23454382 (functional study)
Mitochondrial disorders v1.371 UQCRB Sarah Leigh Classified gene: UQCRB as Green List (high evidence)
Mitochondrial disorders v1.371 UQCRB Sarah Leigh Added comment: Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 2 unrelated cases with functional studies.
From panels: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial disorder with complex III deficiency (Version 0.25).
Mitochondrial disorders v1.371 UQCRB Sarah Leigh Gene: uqcrb has been classified as Green List (High Evidence).
Mitochondrial disorders v1.370 UQCC2 Sarah Leigh Phenotypes for gene: UQCC2 were changed from Isolated complex III deficiency; Mitochondrial complex III deficiency, nuclear type 7, MIM#615824 to Mitochondrial complex III deficiency, nuclear type 7, 615824
Mitochondrial disorders v1.369 UQCC2 Sarah Leigh Classified gene: UQCC2 as Green List (high evidence)
Mitochondrial disorders v1.369 UQCC2 Sarah Leigh Added comment: Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 2 unrelated cases with functional studies.
From panels: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial disorder with complex III deficiency (Version 0.25).
Mitochondrial disorders v1.369 UQCC2 Sarah Leigh Gene: uqcc2 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.368 TRMT10C Sarah Leigh Phenotypes for gene: TRMT10C were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Combined oxidative phosphorylation deficiency 30, 616974
Mitochondrial disorders v1.367 TRMT10C Sarah Leigh Mode of inheritance for gene: TRMT10C was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.366 TRMT10C Sarah Leigh Classified gene: TRMT10C as Green List (high evidence)
Mitochondrial disorders v1.366 TRMT10C Sarah Leigh Added comment: Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 2 unrelated families with functional studies.
From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).
Mitochondrial disorders v1.366 TRMT10C Sarah Leigh Gene: trmt10c has been classified as Green List (High Evidence).
Mitochondrial disorders v1.365 TRMT10C Sarah Leigh Publications for gene: TRMT10C were set to
Mitochondrial disorders v1.364 TOP3A Sarah Leigh Classified gene: TOP3A as Green List (high evidence)
Mitochondrial disorders v1.364 TOP3A Sarah Leigh Added comment: Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: One case reported with functional studies; Newcastle team aware of another unrelated case.
From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).
Mitochondrial disorders v1.364 TOP3A Sarah Leigh Gene: top3a has been classified as Green List (High Evidence).
Mitochondrial disorders v1.363 SLC25A32 Sarah Leigh Phenotypes for gene: SLC25A32 were changed from to ?Exercise intolerance, riboflavin-responsive 616839
Mitochondrial disorders v1.362 SLC25A32 Sarah Leigh Mode of inheritance for gene: SLC25A32 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.361 SLC25A32 Sarah Leigh Classified gene: SLC25A32 as Green List (high evidence)
Mitochondrial disorders v1.361 SLC25A32 Sarah Leigh Added comment: Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 2 unrelated cases with functional studies.
From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).
Mitochondrial disorders v1.361 SLC25A32 Sarah Leigh Gene: slc25a32 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.360 SLC25A32 Sarah Leigh commented on gene: SLC25A32
Mitochondrial disorders v1.360 SLC25A32 Sarah Leigh Tag treatable tag was added to gene: SLC25A32.
Mitochondrial disorders v1.360 SLC25A32 Sarah Leigh Publications for gene: SLC25A32 were set to
Mitochondrial disorders v1.359 SFXN4 Sarah Leigh Classified gene: SFXN4 as Green List (high evidence)
Mitochondrial disorders v1.359 SFXN4 Sarah Leigh Added comment: Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 2 unrelated cases with functional studies.
From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).
Mitochondrial disorders v1.359 SFXN4 Sarah Leigh Gene: sfxn4 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.358 SDHD Sarah Leigh Phenotypes for gene: SDHD were changed from Mitochondrial Diseases; Isolated complex II deficiency to Mitochondrial respiratory chain complex II deficiency 252011
Mitochondrial disorders v1.357 SDHD Sarah Leigh Publications for gene: SDHD were set to
Mitochondrial disorders v1.356 SDHD Sarah Leigh Classified gene: SDHD as Green List (high evidence)
Mitochondrial disorders v1.356 SDHD Sarah Leigh Added comment: Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 2 unrelated cases with functional studies.
From panels: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial disorder with complex II deficiency (Version 0.16).
Mitochondrial disorders v1.356 SDHD Sarah Leigh Gene: sdhd has been classified as Green List (High Evidence).
Mitochondrial disorders v1.355 SDHAF1 Sarah Leigh Publications for gene: SDHAF1 were set to
Mitochondrial disorders v1.354 SDHAF1 Sarah Leigh Phenotypes for gene: SDHAF1 were changed from Isolated complex II deficiency; Mitochondrial complex II deficiency, 252011; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex II Deficiency to Mitochondrial complex II deficiency, 252011
Mitochondrial disorders v1.353 SDHAF1 Sarah Leigh Added comment: Comment on phenotypes: Mitochondrial complex II deficiency, 252011
Mitochondrial disorders v1.353 SDHAF1 Sarah Leigh Phenotypes for gene: SDHAF1 were changed from Isolated complex II deficiency; Mitochondrial complex II deficiency, 252011; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex II Deficiency to Isolated complex II deficiency; Mitochondrial complex II deficiency, 252011; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex II Deficiency
Mitochondrial disorders v1.352 SDHAF1 Sarah Leigh Classified gene: SDHAF1 as Green List (high evidence)
Mitochondrial disorders v1.352 SDHAF1 Sarah Leigh Added comment: Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: Multiple unrelated cases with functional studies.
From panels: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial disorder with complex II deficiency (Version 0.16).
Mitochondrial disorders v1.352 SDHAF1 Sarah Leigh Gene: sdhaf1 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.351 PNPLA8 Sarah Leigh Publications for gene: PNPLA8 were set to 29681094; 25512002
Mitochondrial disorders v1.350 PNPLA8 Sarah Leigh Classified gene: PNPLA8 as Green List (high evidence)
Mitochondrial disorders v1.350 PNPLA8 Sarah Leigh Added comment: Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 3 or 4 unrelated cases and functional studies.
From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).
Mitochondrial disorders v1.350 PNPLA8 Sarah Leigh Gene: pnpla8 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.349 PMPCB Sarah Leigh Phenotypes for gene: PMPCB were changed from to Multiple mitochondrial dysfunctions syndrome 6, 617954
Mitochondrial disorders v1.348 PMPCB Sarah Leigh Publications for gene: PMPCB were set to
Mitochondrial disorders v1.347 PMPCB Sarah Leigh Mode of inheritance for gene: PMPCB was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.346 PMPCB Sarah Leigh Classified gene: PMPCB as Green List (high evidence)
Mitochondrial disorders v1.346 PMPCB Sarah Leigh Added comment: Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 4 unrelated families/patients.
From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).
Mitochondrial disorders v1.346 PMPCB Sarah Leigh Gene: pmpcb has been classified as Green List (High Evidence).
Mitochondrial disorders v1.345 NDUFB8 Sarah Leigh Phenotypes for gene: NDUFB8 were changed from Isolated complex I deficiency; No OMIM phenotype to Mitochondrial complex I deficiency, nuclear type 32, 618252
Mitochondrial disorders v1.344 NDUFB8 Sarah Leigh Mode of inheritance for gene: NDUFB8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.343 NDUFB8 Sarah Leigh Publications for gene: NDUFB8 were set to
Mitochondrial disorders v1.342 NDUFB8 Sarah Leigh Classified gene: NDUFB8 as Green List (high evidence)
Mitochondrial disorders v1.342 NDUFB8 Sarah Leigh Added comment: Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 2 unrelated cases with functional studies.
From panels: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial disorder with complex I deficiency (Version 0.65).
Mitochondrial disorders v1.342 NDUFB8 Sarah Leigh Gene: ndufb8 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.341 NDUFAF8 Sarah Leigh Classified gene: NDUFAF8 as Green List (high evidence)
Mitochondrial disorders v1.341 NDUFAF8 Sarah Leigh Added comment: Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: Newcastle team are aware of 3 unrelated cases and functional studies.
From panels: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial disorder with complex I deficiency (Version 0.65).
Mitochondrial disorders v1.341 NDUFAF8 Sarah Leigh Gene: ndufaf8 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.340 NDUFAF8 Sarah Leigh Added comment: Comment on phenotypes: No OMIM phenotype (23/05/2019).
Mitochondrial disorders v1.340 NDUFAF8 Sarah Leigh Phenotypes for gene: NDUFAF8 were changed from to No OMIM phenotype
Mitochondrial disorders v1.339 NDUFAF8 Sarah Leigh Publications for gene: NDUFAF8 were set to
Mitochondrial disorders v1.338 NDUFAF8 Sarah Leigh Mode of inheritance for gene: NDUFAF8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.337 NDUFA9 Sarah Leigh Classified gene: NDUFA9 as Green List (high evidence)
Mitochondrial disorders v1.337 NDUFA9 Sarah Leigh Added comment: Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 2 unrelated families with functional studies.
From panels: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial disorder with complex I deficiency (Version 0.65).
Mitochondrial disorders v1.337 NDUFA9 Sarah Leigh Gene: ndufa9 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.336 NDUFA9 Sarah Leigh Added comment: Comment on phenotypes: Leigh syndrome due to mitochondrial complex I deficiency, 256000 was previously listed for this gene, however, NDUFA9 is not associated with this phenotyped in OMIM.
Mitochondrial disorders v1.336 NDUFA9 Sarah Leigh Phenotypes for gene: NDUFA9 were changed from Isolated complex I deficiency; Leigh syndrome due to mitochondrial complex I deficiency, 256000 to Mitochondrial complex I deficiency, nuclear type 26, 618247
Mitochondrial disorders v1.335 NDUFA6 Sarah Leigh Classified gene: NDUFA6 as Green List (high evidence)
Mitochondrial disorders v1.335 NDUFA6 Sarah Leigh Added comment: Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 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.
From panels: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial disorder with complex I deficiency (Version 0.65).
Mitochondrial disorders v1.335 NDUFA6 Sarah Leigh Gene: ndufa6 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.334 NDUFA6 Sarah Leigh Phenotypes for gene: NDUFA6 were changed from Isolated complex I deficiency; Mitochondrial complex I deficiency, nuclear type 33, 618253 to Mitochondrial complex I deficiency, nuclear type 33, 618253
Mitochondrial disorders v1.333 NDUFA4 Sarah Leigh Added comment: Comment on phenotypes: No OMIM phenotype (23/05/2019).
Mitochondrial disorders v1.333 NDUFA4 Sarah Leigh Phenotypes for gene: NDUFA4 were changed from Isolated complex IV deficiency; No OMIM phenotype to Isolated complex IV deficiency; No OMIM phenotype
Mitochondrial disorders v1.332 NDUFA4 Sarah Leigh Publications for gene: NDUFA4 were set to PMID: 23746447
Mitochondrial disorders v1.331 NDUFA4 Sarah Leigh Mode of inheritance for gene: NDUFA4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.330 NDUFA4 Sarah Leigh Classified gene: NDUFA4 as Green List (high evidence)
Mitochondrial disorders v1.330 NDUFA4 Sarah Leigh Added comment: Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 1 family (4 affecteds) reported with functional studies; also London team have diagnosed a second unrelated family; note that this is a Complex IV subunit.
From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).
Mitochondrial disorders v1.330 NDUFA4 Sarah Leigh Gene: ndufa4 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.329 MSTO1 Sarah Leigh Phenotypes for gene: MSTO1 were changed from to Myopathy, mitochondrial, and ataxia, 617675
Mitochondrial disorders v1.328 MSTO1 Sarah Leigh Publications for gene: MSTO1 were set to
Mitochondrial disorders v1.327 MSTO1 Sarah Leigh Mode of inheritance for gene: MSTO1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v1.326 MSTO1 Sarah Leigh Classified gene: MSTO1 as Green List (high evidence)
Mitochondrial disorders v1.326 MSTO1 Sarah Leigh Added comment: Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 4 unrelated recessive families with functional studies; 1 dominant family with functional studies.
From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).
Mitochondrial disorders v1.326 MSTO1 Sarah Leigh Gene: msto1 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.325 MRPS2 Sarah Leigh Phenotypes for gene: MRPS2 were changed from No OMIM phenotype to Combined oxidative phosphorylation deficiency 36 617950
Mitochondrial disorders v1.324 MRPS2 Sarah Leigh Publications for gene: MRPS2 were set to
Mitochondrial disorders v1.323 MRPS2 Sarah Leigh Mode of inheritance for gene: MRPS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.322 MRPS2 Sarah Leigh Classified gene: MRPS2 as Green List (high evidence)
Mitochondrial disorders v1.322 MRPS2 Sarah Leigh Added comment: Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 2 unrelated cases with functional studies.
From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).
Mitochondrial disorders v1.322 MRPS2 Sarah Leigh Gene: mrps2 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.321 MRPL3 Sarah Leigh Phenotypes for gene: MRPL3 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 9, 614582 to Combined oxidative phosphorylation deficiency 9, 614582
Mitochondrial disorders v1.320 MRPL3 Sarah Leigh Classified gene: MRPL3 as Green List (high evidence)
Mitochondrial disorders v1.320 MRPL3 Sarah Leigh Added comment: Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 2 unrelated families (4 sibs + 1 unrelated case) and functional studies.
From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).
Mitochondrial disorders v1.320 MRPL3 Sarah Leigh Gene: mrpl3 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.319 FDX2 Sarah Leigh Classified gene: FDX2 as Green List (high evidence)
Mitochondrial disorders v1.319 FDX2 Sarah Leigh Added comment: Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 3 unrelated familties; iron sulfur pathway.
From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).
Mitochondrial disorders v1.319 FDX2 Sarah Leigh Gene: fdx2 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.318 FDX2 Sarah Leigh Publications for gene: FDX2 were set to 30010796; 24281368
Mitochondrial disorders v1.317 DNM2 Sarah Leigh Classified gene: DNM2 as Green List (high evidence)
Mitochondrial disorders v1.317 DNM2 Sarah Leigh Added comment: Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 1 case with multiple deletions and COX negative fibres; 5 cases presented in a poster with dominant DMN2 variants (had COX deficient muscle fibres, one case with the p.Arg369Trp revealed disruption of the dynamic mitochondrial network, https://doi.org/10.1016/j.nmd.2012.06.124).
From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).
Mitochondrial disorders v1.317 DNM2 Sarah Leigh Gene: dnm2 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.316 DNM2 Sarah Leigh Phenotypes for gene: DNM2 were changed from Disorders of mitochondrial DNA maintenance and integrity to Centronuclear myopathy 1, 160150; Charcot-Marie-Tooth disease, axonal type 2M, 606482; Charcot-Marie-Tooth disease, dominant intermediate B, 606482
Mitochondrial disorders v1.315 DNM2 Sarah Leigh Publications for gene: DNM2 were set to 23813975
Mitochondrial disorders v1.314 DNM2 Sarah Leigh Mode of inheritance for gene: DNM2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mitochondrial disorders v1.313 COQ7 Sarah Leigh Classified gene: COQ7 as Green List (high evidence)
Mitochondrial disorders v1.313 COQ7 Sarah Leigh Added comment: Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 3 unrelated individuals and functional studies.
From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).
Mitochondrial disorders v1.313 COQ7 Sarah Leigh Gene: coq7 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.312 COQ7 Sarah Leigh Publications for gene: COQ7 were set to 26084283; 28409910
Mitochondrial disorders v1.311 COA7 Sarah Leigh Publications for gene: COA7 were set to
Mitochondrial disorders v1.310 COA7 Sarah Leigh Mode of inheritance for gene: COA7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.309 COA7 Sarah Leigh Classified gene: COA7 as Green List (high evidence)
Mitochondrial disorders v1.309 COA7 Sarah Leigh Added comment: Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: Several unrelated cases and functional studies.
From panels: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial disorder with complex IV deficiency (Version 0.40).
Mitochondrial disorders v1.309 COA7 Sarah Leigh Gene: coa7 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.308 COA6 Sarah Leigh Classified gene: COA6 as Green List (high evidence)
Mitochondrial disorders v1.308 COA6 Sarah Leigh Added comment: Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 2 cases from 2 unrelated families and functional studies.
From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).
Mitochondrial disorders v1.308 COA6 Sarah Leigh Gene: coa6 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.307 COA6 Sarah Leigh Phenotypes for gene: COA6 were changed from ?{Fatal infantile cardiomyopathy, association with}, 604377 to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 616501
Mitochondrial disorders v1.306 COA6 Sarah Leigh Publications for gene: COA6 were set to
Mitochondrial disorders v1.305 CA5A Sarah Leigh Phenotypes for gene: CA5A were changed from to Hyperammonemia due to carbonic anhydrase VA deficiency, 615751
Mitochondrial disorders v1.304 CA5A Sarah Leigh Publications for gene: CA5A were set to
Mitochondrial disorders v1.303 CA5A Sarah Leigh Mode of inheritance for gene: CA5A was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.302 CA5A Sarah Leigh Classified gene: CA5A as Green List (high evidence)
Mitochondrial disorders v1.302 CA5A Sarah Leigh Added comment: Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: Multiple unrelated families; discussed & agreed that this should be included within 'primary mitochondrial disease' (symptoms include hyperammonemia, hyperlactatemia and ketonuria).
Mitochondrial disorders v1.302 CA5A Sarah Leigh Gene: ca5a has been classified as Green List (High Evidence).
Mitochondrial disorders v1.301 C19orf70 Sarah Leigh Phenotypes for gene: C19orf70 were changed from to Combined oxidative phosphorylation deficiency 37, 618329
Mitochondrial disorders v1.300 C19orf70 Sarah Leigh Publications for gene: C19orf70 were set to
Mitochondrial disorders v1.299 C19orf70 Sarah Leigh Mode of inheritance for gene: C19orf70 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.298 C19orf70 Sarah Leigh commented on gene: C19orf70: New gene symbol: MICOS13
Mitochondrial disorders v1.298 C19orf70 Sarah Leigh Tag new-gene-name tag was added to gene: C19orf70.
Mitochondrial disorders v1.298 C19orf70 Sarah Leigh Classified gene: C19orf70 as Green List (high evidence)
Mitochondrial disorders v1.298 C19orf70 Sarah Leigh Added comment: Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 3 unrelated families (2sibs, 2sibs, 1) and functional studies
Mitochondrial disorders v1.298 C19orf70 Sarah Leigh Gene: c19orf70 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.297 ATP5D Sarah Leigh Classified gene: ATP5D as Green List (high evidence)
Mitochondrial disorders v1.297 ATP5D Sarah Leigh 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 (May 2019) on behalf of GMS mitochondrial specialist test group: 2 unrelated children and functional studies.
Mitochondrial disorders v1.297 ATP5D Sarah Leigh Gene: atp5d has been classified as Green List (High Evidence).
Mitochondrial disorders v1.296 ATP5D Sarah Leigh commented on gene: ATP5D
Mitochondrial disorders v1.296 ATP5D Sarah Leigh Tag new-gene-name tag was added to gene: ATP5D.
Mitochondrial disorders v1.296 ATP5D Sarah Leigh Phenotypes for gene: ATP5D were changed from to Mitochondrial complex V (ATP synthase) deficiency, 618120
Mitochondrial disorders v1.295 ATP5D Sarah Leigh Publications for gene: ATP5D were set to
Mitochondrial disorders v1.294 ATP5D Sarah Leigh Mode of inheritance for gene: ATP5D was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.293 UQCRB Sarah Leigh Source NHS GMS was added to UQCRB.
Source Expert Review Green was added to UQCRB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v1.293 UQCC2 Sarah Leigh Source NHS GMS was added to UQCC2.
Source Expert Review Green was added to UQCC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v1.293 TRMT10C Sarah Leigh Source NHS GMS was added to TRMT10C.
Source Expert Review Green was added to TRMT10C.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Mitochondrial disorders v1.293 TOP3A Sarah Leigh Source NHS GMS was added to TOP3A.
Source Expert Review Green was added to TOP3A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Mitochondrial disorders v1.293 SLC25A32 Sarah Leigh gene: SLC25A32 was added
gene: SLC25A32 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SLC25A32 was set to
Mitochondrial disorders v1.293 SFXN4 Sarah Leigh Source NHS GMS was added to SFXN4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Mitochondrial disorders v1.293 SDHD Sarah Leigh Source NHS GMS was added to SDHD.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Mitochondrial disorders v1.293 SDHAF1 Sarah Leigh Source NHS GMS was added to SDHAF1.
Source Expert Review Green was added to SDHAF1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Mitochondrial disorders v1.293 PNPLA8 Sarah Leigh Source NHS GMS was added to PNPLA8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Mitochondrial disorders v1.293 PMPCB Sarah Leigh gene: PMPCB was added
gene: PMPCB was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PMPCB was set to
Mitochondrial disorders v1.293 NDUFB8 Sarah Leigh Source NHS GMS was added to NDUFB8.
Source Expert Review Green was added to NDUFB8.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Mitochondrial disorders v1.293 NDUFAF8 Sarah Leigh gene: NDUFAF8 was added
gene: NDUFAF8 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: NDUFAF8 was set to
Mitochondrial disorders v1.293 NDUFA9 Sarah Leigh Source NHS GMS was added to NDUFA9.
Source Expert Review Green was added to NDUFA9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v1.293 NDUFA6 Sarah Leigh Source NHS GMS was added to NDUFA6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Mitochondrial disorders v1.293 NDUFA4 Sarah Leigh Source NHS GMS was added to NDUFA4.
Source Expert Review Green was added to NDUFA4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v1.293 MSTO1 Sarah Leigh gene: MSTO1 was added
gene: MSTO1 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: MSTO1 was set to
Mitochondrial disorders v1.293 MRPS2 Sarah Leigh Source NHS GMS was added to MRPS2.
Source Expert Review Green was added to MRPS2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Mitochondrial disorders v1.293 MRPL3 Sarah Leigh Source NHS GMS was added to MRPL3.
Source Expert Review Green was added to MRPL3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v1.293 FDX2 Sarah Leigh Source NHS GMS was added to FDX2.
Source Expert Review Green was added to FDX2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v1.293 DNM2 Sarah Leigh Source NHS GMS was added to DNM2.
Source Expert Review Green was added to DNM2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Mitochondrial disorders v1.293 COQ7 Sarah Leigh Source NHS GMS was added to COQ7.
Source Expert Review Green was added to COQ7.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Mitochondrial disorders v1.293 COA7 Sarah Leigh gene: COA7 was added
gene: COA7 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: COA7 was set to
Mitochondrial disorders v1.293 COA6 Sarah Leigh Source NHS GMS was added to COA6.
Source Expert Review Green was added to COA6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v1.293 CA5A Sarah Leigh gene: CA5A was added
gene: CA5A was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CA5A was set to
Mitochondrial disorders v1.293 C19orf70 Sarah Leigh gene: C19orf70 was added
gene: C19orf70 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: C19orf70 was set to
Mitochondrial disorders v1.293 ATP5D Sarah Leigh gene: ATP5D was added
gene: ATP5D was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ATP5D was set to
Mitochondrial disorders v1.292 NDUFB10 Sarah Leigh edited their review of gene: NDUFB10: Added comment: Two variants in a compound heterozygous case with fatal infantile lactic acidosis and cardiomyopathy. Supportive functional studies were also performed.; Changed rating: AMBER
Mitochondrial disorders v1.292 NDUFB10 Sarah Leigh reviewed gene: NDUFB10: Rating: ; Mode of pathogenicity: None; Publications: 28040730; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v1.292 NDUFA8 Sarah Leigh reviewed gene: NDUFA8: Rating: ; Mode of pathogenicity: None; Publications: 15576045; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v1.292 NDUFA5 Sarah Leigh Publications for gene: NDUFA5 were set to
Mitochondrial disorders v1.291 COA6 Ellen McDonagh commented on gene: COA6: Added the 'treatable' tag, as in PMID: 24549041 as copper supplement rescues respiratory and complex IV assembly defects in knockout yeast cells, and could be a potential treatment.
Mitochondrial disorders v1.291 COA6 Ellen McDonagh Tag treatable tag was added to gene: COA6.
Mitochondrial disorders v1.291 APOPT1 Louise Daugherty Tag new-gene-name tag was added to gene: APOPT1.
Mitochondrial disorders v1.291 APOPT1 Louise Daugherty commented on gene: APOPT1
Mitochondrial disorders v1.291 VPS13C Ivone Leong Classified gene: VPS13C as Green List (high evidence)
Mitochondrial disorders v1.291 VPS13C Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on expert review. This gene is associated with a phenotype in OMIM but not Gene2Phenotype. There are >3 unrelated cases of patients with different variants in this gene.
Mitochondrial disorders v1.291 VPS13C Ivone Leong Gene: vps13c has been classified as Green List (High Evidence).
Mitochondrial disorders v1.290 VPS13C Ivone Leong Publications for gene: VPS13C were set to 26942284
Mitochondrial disorders v1.289 VPS13C Ivone Leong Mode of inheritance for gene: VPS13C was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.288 VPS13C Ivone Leong Publications for gene: VPS13C were set to 616840
Mitochondrial disorders v1.287 VPS13C Ivone Leong Publications for gene: VPS13C were set to
Mitochondrial disorders v1.286 VPS13C Ivone Leong Phenotypes for gene: VPS13C were changed from to Parkinson disease 23, autosomal recessive, early onset, 616840
Mitochondrial disorders v1.285 UQCC3 Ivone Leong Classified gene: UQCC3 as Amber List (moderate evidence)
Mitochondrial disorders v1.285 UQCC3 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. UQCC3 is associated with a phenotype in OMIM but not in Gene2Phenotype. PMID: 25008109 reported on a patient born of consanguineous parents with homozygous variant in this gene. PMID: 28804536 reported on a Turkish patient born of consanguineous parents with two different homozygous variants in this this gene. As there are only 2 cases, currently there is not enough evidence to promote this gene to green. A watchlist tag has also been added.
Mitochondrial disorders v1.285 UQCC3 Ivone Leong Gene: uqcc3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.284 UQCC3 Ivone Leong Tag watchlist tag was added to gene: UQCC3.
Mitochondrial disorders v1.284 UQCC3 Ivone Leong Mode of inheritance for gene: UQCC3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.283 UQCC3 Ivone Leong Publications for gene: UQCC3 were set to
Mitochondrial disorders v1.282 TXN2 Ivone Leong commented on gene: TXN2
Mitochondrial disorders v1.282 TXN2 Ivone Leong Publications for gene: TXN2 were set to PMID: 26626369
Mitochondrial disorders v1.281 STAT2 Ivone Leong Classified gene: STAT2 as Green List (high evidence)
Mitochondrial disorders v1.281 STAT2 Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on expert reviews. STAT2 is associated with a phenotype in OMIM but not in Gene2Phenotype. There are 3 unrelated cases of patients with different variants in this gene.
Mitochondrial disorders v1.281 STAT2 Ivone Leong Gene: stat2 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.280 STAT2 Ivone Leong Phenotypes for gene: STAT2 were changed from severe neurological deterioration following viral infection; elongated mitochondria to severe neurological deterioration following viral infection; elongated mitochondria; Immunodeficiency 44, 616636
Mitochondrial disorders v1.279 STAT2 Ivone Leong Publications for gene: STAT2 were set to PMID: 26122121
Mitochondrial disorders v1.278 SFXN4 Ivone Leong Classified gene: SFXN4 as Green List (high evidence)
Mitochondrial disorders v1.278 SFXN4 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. This gene is associated with a phenotype in OMIM. PMID: 24119684 describes 2 unrelated patients with different variants in this gene who have mitochondrial disorders. The authors also knocked down this gene in the zebrafish, which caused global mitochondrial and respiratory chain defects. Therefore, there is enough evidence to promote this gene to green.
Mitochondrial disorders v1.278 SFXN4 Ivone Leong Gene: sfxn4 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.277 SFXN4 Ivone Leong Publications for gene: SFXN4 were set to
Mitochondrial disorders v1.276 SFXN4 Ivone Leong Phenotypes for gene: SFXN4 were changed from to Combined oxidative phosphorylation deficiency 18, 615578
Mitochondrial disorders v1.275 SFXN4 Ivone Leong Mode of inheritance for gene: SFXN4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.274 SDHAF2 Ivone Leong commented on gene: SDHAF2
Mitochondrial disorders v1.274 PNPLA8 Ivone Leong Classified gene: PNPLA8 as Green List (high evidence)
Mitochondrial disorders v1.274 PNPLA8 Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on expert review.
Mitochondrial disorders v1.274 PNPLA8 Ivone Leong Gene: pnpla8 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.273 PNPLA8 Ivone Leong Phenotypes for gene: PNPLA8 were changed from to ?Mitochondrial myopathy with lactic acidosis, 251950
Mitochondrial disorders v1.272 PNPLA8 Ivone Leong Publications for gene: PNPLA8 were set to
Mitochondrial disorders v1.271 PNPLA8 Ivone Leong Mode of inheritance for gene: PNPLA8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.270 PDPR Ivone Leong Publications for gene: PDPR were set to PMID: 25558065
Mitochondrial disorders v1.269 NFS1 Ivone Leong commented on gene: NFS1
Mitochondrial disorders v1.269 NFS1 Ivone Leong Publications for gene: NFS1 were set to
Mitochondrial disorders v1.268 NDUFA6 Ivone Leong Classified gene: NDUFA6 as Green List (high evidence)
Mitochondrial disorders v1.268 NDUFA6 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. This gene is associated with a phenotype in OMIM and is probably associated with a phenotype in Gene2Phenotype. PMID: 30245030 reported on 4 unrelated children of different ethnicity who have different variants in this gene with the associated phenotype. Therefore, there is enough evidence to promote this gene to green.
Mitochondrial disorders v1.268 NDUFA6 Ivone Leong Gene: ndufa6 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.267 NDUFA6 Ivone Leong Mode of inheritance for gene: NDUFA6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.266 NDUFA6 Ivone Leong Publications for gene: NDUFA6 were set to
Mitochondrial disorders v1.265 NDUFA6 Ivone Leong Phenotypes for gene: NDUFA6 were changed from Isolated complex I deficiency; No OMIM phenotype to Isolated complex I deficiency; Mitochondrial complex I deficiency, nuclear type 33, 618253
Mitochondrial disorders v1.264 NDUFA13 Ivone Leong commented on gene: NDUFA13: As there is only one reported case in the literature, there is currently not enough evidence to promote this gene to green status. Therefore, until further evidence is available this gene will remain a red gene.
Mitochondrial disorders v1.264 NDUFA13 Ivone Leong Publications for gene: NDUFA13 were set to
Mitochondrial disorders v1.263 NDUFA13 Ivone Leong Phenotypes for gene: NDUFA13 were changed from Isolated complex I deficiency; Mitochondrial Diseases; ?Mitochondrial complex I deficiency, nuclear type 28, 618249 to Isolated complex I deficiency; Mitochondrial Diseases; ?Mitochondrial complex I deficiency, nuclear type 28, 618249
Mitochondrial disorders v1.262 NDUFA13 Ivone Leong Added comment: Comment on phenotypes: Removed "{Thyroid carcinoma, Hurthle cell}, 607464" from phenotypes as this phenotype is not relevant to this panel.
Mitochondrial disorders v1.262 NDUFA13 Ivone Leong Phenotypes for gene: NDUFA13 were changed from Isolated complex I deficiency; {Thyroid carcinoma, Hurthle cell}, 607464; Mitochondrial Diseases to Isolated complex I deficiency; Mitochondrial Diseases; ?Mitochondrial complex I deficiency, nuclear type 28, 618249
Mitochondrial disorders v1.261 NDUFA12 Ivone Leong commented on gene: NDUFA12: This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There is only one case (PMID: 21617257) of a Pakistani patient with a variant in this gene who has complex I deficiency type 23 manifesting as Leigh syndrome. Therefore, this gene will remain a red gene until further evidence is available.
Mitochondrial disorders v1.261 NDUFA12 Ivone Leong Publications for gene: NDUFA12 were set to
Mitochondrial disorders v1.260 NDUFA12 Ivone Leong Added comment: Comment on phenotypes: "Leigh syndrome due to mitochondrial complex 1 deficiency, 256000" has been removed as the OMIM number does not relate to this gene. The OMIM "?Mitochondrial complex I deficiency, nuclear type 23, 618244" is what is reported for this gene in OMIM.
Mitochondrial disorders v1.260 NDUFA12 Ivone Leong Phenotypes for gene: NDUFA12 were changed from Isolated complex I deficiency; Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 to Isolated complex I deficiency; ?Mitochondrial complex I deficiency, nuclear type 23, 618244
Mitochondrial disorders v1.259 MTPAP Ivone Leong Publications for gene: MTPAP were set to 20970105; 25008111
Mitochondrial disorders v1.258 MTPAP Ivone Leong Publications for gene: MTPAP were set to
Mitochondrial disorders v1.257 MRPS7 Ivone Leong Phenotypes for gene: MRPS7 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); ?Combined oxidative phosphorylation deficiency 34, 617872
Mitochondrial disorders v1.256 MRPS23 Ivone Leong commented on gene: MRPS23
Mitochondrial disorders v1.256 MRPS23 Ivone Leong Publications for gene: MRPS23 were set to PMID: 26741492
Mitochondrial disorders v1.255 MRPL12 Ivone Leong commented on gene: MRPL12
Mitochondrial disorders v1.255 MRPL12 Ivone Leong Publications for gene: MRPL12 were set to
Mitochondrial disorders v1.254 MPC1 Ivone Leong Classified gene: MPC1 as Green List (high evidence)
Mitochondrial disorders v1.254 MPC1 Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on expert reviews and also mouse models for this gene.
Mitochondrial disorders v1.254 MPC1 Ivone Leong Gene: mpc1 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.253 MPC1 Ivone Leong Added comment: Comment on publications: PMID: 27176894 and 27835892 describe mouse models of MPC1 (a knockin model and a knockout model) showing the effects MPC1 has on mitochondrial function.
Mitochondrial disorders v1.253 MPC1 Ivone Leong Publications for gene: MPC1 were set to 22628558
Mitochondrial disorders v1.252 MPC1 Ivone Leong Publications for gene: MPC1 were set to
Mitochondrial disorders v1.251 MPC1 Ivone Leong Mode of inheritance for gene: MPC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.250 FXN Ivone Leong Classified gene: FXN as Green List (high evidence)
Mitochondrial disorders v1.250 FXN Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on the provided expert reviews. FXN is associated with a phenotype in OMIM but not in Gene2Phenotype. There are >3 unrelated cases of patients with variants in this gene; therefore, there is sufficient evidence to support the promotion of this gene to green status.
Mitochondrial disorders v1.250 FXN Ivone Leong Gene: fxn has been classified as Green List (High Evidence).
Mitochondrial disorders v1.249 FXN Ivone Leong Publications for gene: FXN were set to
Mitochondrial disorders v1.248 FXN Ivone Leong Mode of inheritance for gene: FXN was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.247 FDX2 Ivone Leong Classified gene: FDX2 as Amber List (moderate evidence)
Mitochondrial disorders v1.247 FDX2 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber, based on the expert review by Zornitza Stark (Australian Genomics) and the literature.

FDX2 is associated with a phenotype in OMIM and not Gene2Phenotype.

PMID: 24281368 describes a patient born of consanguineous Jewish Moroccan patents with episodic mitochondrial myopathy without optic atrophy or reversible leukoencephalopathy. The authors identified a homozygous missense variant in this gene (M1L).

PMID: 30010796 describes 6 patients from 2 apparently unrelated Brazilian familes from the same geographical region with episodic mitochondrial myopathy. All affected individuals had the same homozygous variant (P144L). No haplotype analysis was performed.

As there are only 2 different variants reported in this gene and no haplotype analysis was performed in PMID: 30010796 it was decided that there is currently not enough evidence to promote this gene to green status. However, a watch-list tag has also been put on this gene.
Mitochondrial disorders v1.247 FDX2 Ivone Leong Gene: fdx2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.246 FDX2 Ivone Leong Tag watchlist tag was added to gene: FDX2.
Mitochondrial disorders v1.246 FDX2 Ivone Leong Publications for gene: FDX2 were set to 30010796
Mitochondrial disorders v1.245 FDX2 Ivone Leong Mode of inheritance for gene: FDX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.244 FDX2 Ivone Leong Added comment: Comment on phenotypes: The phenotype was previously "?Mitochondrial myopathy with lactic acidosis, association with, 255125"; however, this OMIM number corresponds to the gene, ISCU. I have removed this OMIM number and replaced with "Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900".
Mitochondrial disorders v1.244 FDX2 Ivone Leong Phenotypes for gene: FDX2 were changed from No OMIM phenotype?Mitochondrial myopathy with lactic acidosis, association with, 255125 to Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900
Mitochondrial disorders v1.243 FDX2 Ivone Leong Publications for gene: FDX2 were set to
Mitochondrial disorders v1.242 DNM2 Ivone Leong Publications for gene: DNM2 were set to
Mitochondrial disorders v1.241 COX8A Sarah Leigh Phenotypes for gene: COX8A were changed from Leigh-like syndrome and epilepsy to ?Mitochondrial complex IV deficiency 220110
Mitochondrial disorders v1.240 COX8A Sarah Leigh Publications for gene: COX8A were set to PMID: 26685157
Mitochondrial disorders v1.239 COX4I2 Sarah Leigh Publications for gene: COX4I2 were set to 19268275
Mitochondrial disorders v1.238 COX4I2 Sarah Leigh reviewed gene: COX4I2: Rating: RED; Mode of pathogenicity: None; Publications: 22592081; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v1.238 COX4I2 Sarah Leigh Publications for gene: COX4I2 were set to
Mitochondrial disorders v1.237 COQ7 Sarah Leigh reviewed gene: COQ7: Rating: AMBER; Mode of pathogenicity: None; Publications: 28409910; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v1.237 COQ7 Sarah Leigh Phenotypes for gene: COQ7 were changed from primary coenzyme Q10 deficiency; complex multisystem presentation to ?Coenzyme Q10 deficiency, primary, 8 616733; complex multisystem presentation
Mitochondrial disorders v1.236 COQ7 Sarah Leigh Publications for gene: COQ7 were set to PMID: 26084283
Mitochondrial disorders v1.235 COA5 Sarah Leigh Classified gene: COA5 as Red List (low evidence)
Mitochondrial disorders v1.235 COA5 Sarah Leigh Added comment: Comment on list classification: No additional variants have been reported to date.
Mitochondrial disorders v1.235 COA5 Sarah Leigh Gene: coa5 has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.234 COA5 Sarah Leigh Phenotypes for gene: COA5 were changed from Isolated complex IV deficiency; Mitochondrial complex IV deficiency, 220110; ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 to ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500
Mitochondrial disorders v1.233 COA5 Sarah Leigh Publications for gene: COA5 were set to
Mitochondrial disorders v1.232 CEP89 Sarah Leigh Publications for gene: CEP89 were set to PMID: 23575228
Mitochondrial disorders v1.231 ATP5E Sarah Leigh Mode of inheritance for gene: ATP5E was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.230 ATP5E Sarah Leigh Publications for gene: ATP5E were set to PMID: 20566710
Mitochondrial disorders v1.229 ATP5E Sarah Leigh Phenotypes for gene: ATP5E were changed from ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 to ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 614053
Mitochondrial disorders v1.228 ATP5E Sarah Leigh Classified gene: ATP5E as Red List (low evidence)
Mitochondrial disorders v1.228 ATP5E Sarah Leigh Added comment: Comment on list classification: No additional variants have been reported to date.
Mitochondrial disorders v1.228 ATP5E Sarah Leigh Gene: atp5e has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.227 ATP5A1 Sarah Leigh Classified gene: ATP5A1 as Red List (low evidence)
Mitochondrial disorders v1.227 ATP5A1 Sarah Leigh Added comment: Comment on list classification: No additional variants have been reported to date.
Mitochondrial disorders v1.227 ATP5A1 Sarah Leigh Gene: atp5a1 has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.226 ATP5A1 Sarah Leigh Mode of inheritance for gene: ATP5A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.225 ATP5A1 Sarah Leigh Added comment: Comment on publications: PMID: 23599390 (two siblings with a severe neonatal encephalopathy caused by complex V deficiency);PMID: 23596069 (newborn female with failure to thrive, microcephaly, encephalopathy, IUGR, hypotonia, bacteremia, pulmonary hypertension, heart failure, and mitchondrial depletion).
Mitochondrial disorders v1.225 ATP5A1 Sarah Leigh Publications for gene: ATP5A1 were set to PMID: 23599390 (two siblings with a severe neonatal encephalopathy caused by complex V deficiency); PMID: 23596069 (newborn female with failure to thrive, microcephaly, encephalopathy, IUGR, hypotonia, bacteremia, pulmonary hypertension, heart failure, and mitchondrial depletion).
Mitochondrial disorders v1.224 ATP5A1 Sarah Leigh Deleted their review
Mitochondrial disorders v1.224 ATP5A1 Sarah Leigh Deleted their comment
Mitochondrial disorders v1.224 ATP5A1 Sarah Leigh commented on gene: ATP5A1
Mitochondrial disorders v1.224 MIPEP Sarah Leigh Classified gene: MIPEP as Green List (high evidence)
Mitochondrial disorders v1.224 MIPEP Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 6 variants reported in at least 4 cases.
Mitochondrial disorders v1.224 MIPEP Sarah Leigh Gene: mipep has been classified as Green List (High Evidence).
Mitochondrial disorders v1.223 MIPEP Sarah Leigh gene: MIPEP was added
gene: MIPEP was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: MIPEP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MIPEP were set to 27799064
Phenotypes for gene: MIPEP were set to Combined oxidative phosphorylation deficiency 31, 617228
Review for gene: MIPEP was set to GREEN
Added comment: From an 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.
Sources: Expert list
Mitochondrial disorders v1.222 TUFM Sarah Leigh Classified gene: TUFM as Green List (high evidence)
Mitochondrial disorders v1.222 TUFM Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least four variants reported in at least four unrelated cases.
Mitochondrial disorders v1.222 TUFM Sarah Leigh Gene: tufm has been classified as Green List (High Evidence).
Mitochondrial disorders v1.221 TRMT5 Sarah Leigh Classified gene: TRMT5 as Green List (high evidence)
Mitochondrial disorders v1.221 TRMT5 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in at least three cases, together with supportive functional studies.
Mitochondrial disorders v1.221 TRMT5 Sarah Leigh Gene: trmt5 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.220 TUFM Sarah Leigh Phenotypes for gene: TUFM were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 4, 610678 to Combined oxidative phosphorylation deficiency 4 610678
Mitochondrial disorders v1.219 TUFM Sarah Leigh Publications for gene: TUFM were set to
Mitochondrial disorders v1.218 TRMT5 Sarah Leigh Phenotypes for gene: TRMT5 were changed from Multiple Respiratory-Chain Deficiencies to Combined oxidative phosphorylation deficiency 26 616539
Mitochondrial disorders v1.217 TRMT5 Sarah Leigh Publications for gene: TRMT5 were set to PMID: 26189817
Mitochondrial disorders v1.216 TRIT1 Sarah Leigh Classified gene: TRIT1 as Green List (high evidence)
Mitochondrial disorders v1.216 TRIT1 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 6 variants reported in at least 6 unrelated cases.
Mitochondrial disorders v1.216 TRIT1 Sarah Leigh Gene: trit1 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.215 TRIT1 Sarah Leigh Mode of inheritance for gene: TRIT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.214 TRIT1 Sarah Leigh Publications for gene: TRIT1 were set to
Mitochondrial disorders v1.213 TRIT1 Sarah Leigh Phenotypes for gene: TRIT1 were changed from No OMIM phenotype; Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Combined oxidative phosphorylation deficiency 35 617873
Mitochondrial disorders v1.212 TIMM50 Sarah Leigh Classified gene: TIMM50 as Green List (high evidence)
Mitochondrial disorders v1.212 TIMM50 Sarah Leigh Added comment: Comment on list classification: Based on the review of Zornitza Stark (Australian Genomics) regarding the level of evidence.
Mitochondrial disorders v1.212 TIMM50 Sarah Leigh Gene: timm50 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.211 SLC25A42 Sarah Leigh Classified gene: SLC25A42 as Green List (high evidence)
Mitochondrial disorders v1.211 SLC25A42 Sarah Leigh Added comment: Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. However, a founder variant has been reported in Arab populations (rs864321624), together with supportive functional studies. A rare additional variant has also been reported as a compound heterozygous with the founder variant.
Mitochondrial disorders v1.211 SLC25A42 Sarah Leigh Gene: slc25a42 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.210 SLC25A42 Sarah Leigh Phenotypes for gene: SLC25A42 were changed from to mitochondrial myopathy
Mitochondrial disorders v1.209 SLC25A42 Sarah Leigh Publications for gene: SLC25A42 were set to 29923093; 29327420; 26541337
Mitochondrial disorders v1.208 SLC25A42 Sarah Leigh Mode of inheritance for gene: SLC25A42 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.207 SLC25A42 Sarah Leigh Publications for gene: SLC25A42 were set to
Mitochondrial disorders v1.206 SLC25A42 Sarah Leigh Mode of inheritance for gene: SLC25A42 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.205 SLC25A42 Sarah Leigh Tag founder-effect tag was added to gene: SLC25A42.
Mitochondrial disorders v1.205 SLC25A12 Sarah Leigh Classified gene: SLC25A12 as Green List (high evidence)
Mitochondrial disorders v1.205 SLC25A12 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 biallelic variants reported in unrelated cases.
Mitochondrial disorders v1.205 SLC25A12 Sarah Leigh Gene: slc25a12 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.204 SLC25A12 Sarah Leigh Phenotypes for gene: SLC25A12 were changed from Hypomyelination, global cerebral, 612949 to Epileptic encephalopathy, early infantile, 39 612949
Mitochondrial disorders v1.203 SLC25A12 Sarah Leigh Publications for gene: SLC25A12 were set to
Mitochondrial disorders v1.202 SLC25A12 Sarah Leigh Mode of inheritance for gene: SLC25A12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.201 SLC25A1 Sarah Leigh Classified gene: SLC25A1 as Green List (high evidence)
Mitochondrial disorders v1.201 SLC25A1 Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 6 variants identified in at least 4 unrelated cases.
Mitochondrial disorders v1.201 SLC25A1 Sarah Leigh Gene: slc25a1 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.200 SLC25A1 Sarah Leigh Publications for gene: SLC25A1 were set to
Mitochondrial disorders v1.199 SLC25A1 Sarah Leigh Mode of inheritance for gene: SLC25A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.198 RTN4IP1 Sarah Leigh Classified gene: RTN4IP1 as Green List (high evidence)
Mitochondrial disorders v1.198 RTN4IP1 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 11 variants reported in at least 8 unrelated cases.
Mitochondrial disorders v1.198 RTN4IP1 Sarah Leigh Gene: rtn4ip1 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.197 RTN4IP1 Sarah Leigh Mode of inheritance for gene: RTN4IP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.196 RTN4IP1 Sarah Leigh Publications for gene: RTN4IP1 were set to
Mitochondrial disorders v1.195 RTN4IP1 Sarah Leigh Phenotypes for gene: RTN4IP1 were changed from to Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732
Mitochondrial disorders v1.194 QRSL1 Sarah Leigh Classified gene: QRSL1 as Green List (high evidence)
Mitochondrial disorders v1.194 QRSL1 Sarah Leigh Added comment: Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. At least 2 biallelic variants reported in two unrelated cases, together with supportive functional evidence.
Mitochondrial disorders v1.194 QRSL1 Sarah Leigh Gene: qrsl1 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.193 QRSL1 Sarah Leigh Mode of inheritance for gene: QRSL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.192 QRSL1 Ellen McDonagh Publications for gene: QRSL1 were set to
Mitochondrial disorders v1.191 PUS1 Sarah Leigh Classified gene: PUS1 as Green List (high evidence)
Mitochondrial disorders v1.191 PUS1 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 6 variants reported in 5 unrelated cases.
Mitochondrial disorders v1.191 PUS1 Sarah Leigh Gene: pus1 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.190 PUS1 Sarah Leigh Mode of inheritance for gene: PUS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.189 PUS1 Sarah Leigh Publications for gene: PUS1 were set to
Mitochondrial disorders v1.188 NAXE Sarah Leigh Classified gene: NAXE as Green List (high evidence)
Mitochondrial disorders v1.188 NAXE Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 7 variants reported in at least 5 unrelated cases.
Mitochondrial disorders v1.188 NAXE Sarah Leigh Gene: naxe has been classified as Green List (High Evidence).
Mitochondrial disorders v1.187 NAXE Sarah Leigh Publications for gene: NAXE were set to
Mitochondrial disorders v1.186 NAXE Sarah Leigh Deleted their comment
Mitochondrial disorders v1.186 NAXE Sarah Leigh Added comment: Comment on phenotypes: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 617186
Mitochondrial disorders v1.186 NAXE Sarah Leigh Phenotypes for gene: NAXE were changed from to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 617186
Mitochondrial disorders v1.185 NAXE Sarah Leigh Mode of inheritance for gene: NAXE was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.184 NADK2 Sarah Leigh Classified gene: NADK2 as Green List (high evidence)
Mitochondrial disorders v1.184 NADK2 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 3 biallelic variants reported in 3 unrelated cases, with supportive functional studies.
Mitochondrial disorders v1.184 NADK2 Sarah Leigh Gene: nadk2 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.183 NADK2 Sarah Leigh Publications for gene: NADK2 were set to
Mitochondrial disorders v1.182 NADK2 Sarah Leigh Mode of inheritance for gene: NADK2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.181 NADK2 Sarah Leigh Phenotypes for gene: NADK2 were changed from to ?2,4-dienoyl-CoA reductase deficiency 616034
Mitochondrial disorders v1.180 MTFMT Sarah Leigh Classified gene: MTFMT as Green List (high evidence)
Mitochondrial disorders v1.180 MTFMT Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 8 variants reported.
Mitochondrial disorders v1.180 MTFMT Sarah Leigh Gene: mtfmt has been classified as Green List (High Evidence).
Mitochondrial disorders v1.179 MTFMT Sarah Leigh Added comment: Comment on phenotypes: Mitochondrial complex I deficiency, nuclear type 27 618248
Mitochondrial disorders v1.179 MTFMT Sarah Leigh Phenotypes for gene: MTFMT were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 15, 614947 to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 15, 614947; Mitochondrial complex I deficiency, nuclear type 27 618248
Mitochondrial disorders v1.178 MTFMT Sarah Leigh Publications for gene: MTFMT were set to
Mitochondrial disorders v1.177 MTFMT Sarah Leigh Mode of inheritance for gene: MTFMT was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.176 MICU1 Sarah Leigh Classified gene: MICU1 as Green List (high evidence)
Mitochondrial disorders v1.176 MICU1 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 variants reported in numerous cases.
Mitochondrial disorders v1.176 MICU1 Sarah Leigh Gene: micu1 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.175 MICU1 Sarah Leigh Phenotypes for gene: MICU1 were changed from to Myopathy with extrapyramidal signs 615673
Mitochondrial disorders v1.174 MICU1 Sarah Leigh Publications for gene: MICU1 were set to
Mitochondrial disorders v1.173 MICU1 Sarah Leigh Mode of inheritance for gene: MICU1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.172 MICU1 Sarah Leigh Tag founder-effect tag was added to gene: MICU1.
Mitochondrial disorders v1.172 MECR Sarah Leigh Classified gene: MECR as Green List (high evidence)
Mitochondrial disorders v1.172 MECR Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 6 variants reported in unrelated families.
Mitochondrial disorders v1.172 MECR Sarah Leigh Gene: mecr has been classified as Green List (High Evidence).
Mitochondrial disorders v1.171 MECR Sarah Leigh Phenotypes for gene: MECR were changed from to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282
Mitochondrial disorders v1.170 MECR Sarah Leigh Publications for gene: MECR were set to
Mitochondrial disorders v1.169 MECR Sarah Leigh Mode of inheritance for gene: MECR was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.168 ISCU Sarah Leigh Classified gene: ISCU as Green List (high evidence)
Mitochondrial disorders v1.168 ISCU Sarah Leigh Added comment: Comment on list classification: Sufficient publshed reported biallelic cases, together with a heterozygous case with supportive functional studies.
Mitochondrial disorders v1.168 ISCU Sarah Leigh Gene: iscu has been classified as Green List (High Evidence).
Mitochondrial disorders v1.167 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
Mitochondrial disorders v1.166 ISCU Sarah Leigh Tag founder-effect tag was added to gene: ISCU.
Mitochondrial disorders v1.166 ISCU Sarah Leigh Publications for gene: ISCU were set to
Mitochondrial disorders v1.165 ISCU Sarah Leigh Mode of inheritance for gene: ISCU was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v1.164 HSD17B10 Sarah Leigh Classified gene: HSD17B10 as Green List (high evidence)
Mitochondrial disorders v1.164 HSD17B10 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 8 variants reported in numerous unrelated cases, together with supportive functional studies.
Mitochondrial disorders v1.164 HSD17B10 Sarah Leigh Gene: hsd17b10 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.163 HSD17B10 Sarah Leigh Phenotypes for gene: HSD17B10 were changed from to HSD10 mitochondrial disease 300438
Mitochondrial disorders v1.162 HSD17B10 Sarah Leigh Publications for gene: HSD17B10 were set to
Mitochondrial disorders v1.161 HSD17B10 Sarah Leigh Mode of inheritance for gene: HSD17B10 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mitochondrial disorders v1.160 GFM2 Sarah Leigh Classified gene: GFM2 as Green List (high evidence)
Mitochondrial disorders v1.160 GFM2 Sarah Leigh Added comment: Comment on list classification: Three additional novel biallelic variants in cases of early-onset neurological presentations of mitochondrial disease, together with supportive functional studies (PMID 29075935).
Mitochondrial disorders v1.160 GFM2 Sarah Leigh Gene: gfm2 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.159 GFM2 Sarah Leigh Phenotypes for gene: GFM2 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Early-onset neurological presentations of mitochondrial disease; Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Mitochondrial disorders v1.158 GFM2 Sarah Leigh Mode of inheritance for gene: GFM2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.157 GFM2 Sarah Leigh Publications for gene: GFM2 were set to
Mitochondrial disorders v1.156 CARS2 Sarah Leigh Phenotypes for gene: CARS2 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype to Combined oxidative phosphorylation deficiency 27 616672; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype
Mitochondrial disorders v1.155 CARS2 Sarah Leigh Classified gene: CARS2 as Green List (high evidence)
Mitochondrial disorders v1.155 CARS2 Sarah Leigh Added comment: Comment on list classification: Additional case of epilepsy, intellectual impairment, dysphagia with gastric tube dependence, and autism spectrum disorder who presented with focal status epilepticus.in a 13 year girl who was compound heterozygous for novel CARS2 variants (PMID 30139652).
Mitochondrial disorders v1.155 CARS2 Sarah Leigh Gene: cars2 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.154 CARS2 Sarah Leigh Publications for gene: CARS2 were set to
Mitochondrial disorders v1.153 NDUFA1 Ellen McDonagh Publications for gene: NDUFA1 were set to
Mitochondrial disorders v1.152 NDUFA1 Ellen McDonagh Added comment: Comment on mode of inheritance: Changed from 'Both monoallelic and biallelic' to X-linked, as encoded on the X-chromosome.
Mitochondrial disorders v1.152 NDUFA1 Ellen McDonagh Mode of inheritance for gene: NDUFA1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mitochondrial disorders v1.151 UQCRC2 Ellen McDonagh Mode of inheritance for gene: UQCRC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.150 UQCRC2 Ellen McDonagh Classified gene: UQCRC2 as Amber List (moderate evidence)
Mitochondrial disorders v1.150 UQCRC2 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to two unrelated cases/families - though this is for the same missense variant.
Mitochondrial disorders v1.150 UQCRC2 Ellen McDonagh Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.149 UQCRC2 Ellen McDonagh Publications for gene: UQCRC2 were set to 28275242
Mitochondrial disorders v1.148 UQCRC2 Ellen McDonagh Publications for gene: UQCRC2 were set to
Mitochondrial disorders v1.147 UQCC2 Ellen McDonagh Phenotypes for gene: UQCC2 were changed from Isolated complex III deficiency to Isolated complex III deficiency; Mitochondrial complex III deficiency, nuclear type 7, MIM#615824
Mitochondrial disorders v1.146 UQCC2 Ellen McDonagh Publications for gene: UQCC2 were set to
Mitochondrial disorders v1.145 UQCC2 Ellen McDonagh Mode of inheritance for gene: UQCC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.144 UQCC2 Ellen McDonagh Classified gene: UQCC2 as Amber List (moderate evidence)
Mitochondrial disorders v1.144 UQCC2 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to two reports.
Mitochondrial disorders v1.144 UQCC2 Ellen McDonagh Gene: uqcc2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.143 PARS2 Ellen McDonagh Classified gene: PARS2 as Green List (high evidence)
Mitochondrial disorders v1.143 PARS2 Ellen McDonagh Added comment: Comment on list classification: Promoted from Amber to Green due to more than 3 unrelated families reported.
Mitochondrial disorders v1.143 PARS2 Ellen McDonagh Gene: pars2 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.142 PARS2 Ellen McDonagh Publications for gene: PARS2 were set to PMID: 25629079 (single case)
Mitochondrial disorders v1.141 MRPS16 Ellen McDonagh Publications for gene: MRPS16 were set to
Mitochondrial disorders v1.140 MRPS16 Ellen McDonagh Mode of inheritance for gene: MRPS16 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.139 MRPS16 Ellen McDonagh Classified gene: MRPS16 as Amber List (moderate evidence)
Mitochondrial disorders v1.139 MRPS16 Ellen McDonagh Added comment: Comment on list classification: Additional case reported - promoted from Red to Amber.
Mitochondrial disorders v1.139 MRPS16 Ellen McDonagh Gene: mrps16 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.138 MRPL44 Ellen McDonagh Publications for gene: MRPL44 were set to
Mitochondrial disorders v1.137 MRPL44 Ellen McDonagh Mode of inheritance for gene: MRPL44 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.136 MRPL44 Ellen McDonagh Classified gene: MRPL44 as Green List (high evidence)
Mitochondrial disorders v1.136 MRPL44 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to reports in 3 unrelated cases/families.
Mitochondrial disorders v1.136 MRPL44 Ellen McDonagh Gene: mrpl44 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.135 MRPL3 Ellen McDonagh Classified gene: MRPL3 as Amber List (moderate evidence)
Mitochondrial disorders v1.135 MRPL3 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to two family reports.
Mitochondrial disorders v1.135 MRPL3 Ellen McDonagh Gene: mrpl3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.134 MRPL3 Ellen McDonagh Mode of inheritance for gene: MRPL3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.133 MRPL3 Ellen McDonagh Publications for gene: MRPL3 were set to
Mitochondrial disorders v1.132 NDUFB9 Ellen McDonagh Added comment: Comment on publications: PMID: 22200994 Reports one probound heterozygous for a variant (c.140G>T, p.Arg47Leu) within NDUFB9 with parents not available for genetic testing, and in vitro complement studies in patient fibroblasts showed wildtype NDUFB9 did not rescue complex I activity, therefore was deemed not pathogenic. Reports two brothers homozygous for a variant in the gene, with parents who are heterozygous carriers (c.191T>C, p.Leu64Pro). In vitro, fibroblasts from the proband showed low complex I activity, and wildtype NDUFB9 rescued complex I activity.
Mitochondrial disorders v1.132 NDUFB9 Ellen McDonagh Publications for gene: NDUFB9 were set to PMID: 22200994 Reports one probound heterozygous for a variant (c.140G>T, p.Arg47Leu) within NDUFB9 with parents not available for genetic testing, and in vitro complement studies in patient fibroblasts showed wildtype NDUFB9 did not rescue complex I activity, therefore was deemed not pathogenic. Reports two brothers homozygous for a variant in the gene, with parents who are heterozygous carriers (c.191T>C, p.Leu64Pro). In vitro, fibroblasts from the proband showed low complex I activity, and wildtype NDUFB9 rescued complex I activity.
Mitochondrial disorders v1.131 NDUFA9 Ellen McDonagh Phenotypes for gene: NDUFA9 were changed from Isolated complex I deficiency; Leigh syndrome due to mitochondrial complex I deficiency, 256000 -3 to Isolated complex I deficiency; Leigh syndrome due to mitochondrial complex I deficiency, 256000
Mitochondrial disorders v1.130 NDUFA9 Ellen McDonagh Publications for gene: NDUFA9 were set to
Mitochondrial disorders v1.129 NDUFA9 Ellen McDonagh Mode of inheritance for gene: NDUFA9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.128 NDUFA9 Ellen McDonagh Classified gene: NDUFA9 as Amber List (moderate evidence)
Mitochondrial disorders v1.128 NDUFA9 Ellen McDonagh Added comment: Comment on list classification: Promoted to Amber due to additional reports for 2 cases (see publications).
Mitochondrial disorders v1.128 NDUFA9 Ellen McDonagh Gene: ndufa9 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.127 WARS2 Ellen McDonagh Phenotypes for gene: WARS2 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710
Mitochondrial disorders v1.126 WARS2 Ellen McDonagh Publications for gene: WARS2 were set to
Mitochondrial disorders v1.125 WARS2 Ellen McDonagh Mode of inheritance for gene: WARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.124 WARS2 Ellen McDonagh Classified gene: WARS2 as Green List (high evidence)
Mitochondrial disorders v1.124 WARS2 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to new evidence and expert review. Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Green.
Mitochondrial disorders v1.124 WARS2 Ellen McDonagh Gene: wars2 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.123 IDH3B Ellen McDonagh Phenotypes for gene: IDH3B were changed from to Retinitis pigmentosa 46, 612572
Mitochondrial disorders v1.122 IDH3B Ellen McDonagh Publications for gene: IDH3B were set to
Mitochondrial disorders v1.121 IDH3B Ellen McDonagh Classified gene: IDH3B as Amber List (moderate evidence)
Mitochondrial disorders v1.121 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.
Mitochondrial disorders v1.121 IDH3B Ellen McDonagh Gene: idh3b has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.120 HARS2 Ellen McDonagh Added comment: Comment on publications: PMID: 21464306: One family reported, with five affected siblings who were compound heterozygous for variants L200V and V368L. Functional evidence in c.elegans was provided. PMID: 27650058: sporadic Perrault syndrome patients IV-1 and VI-I were homozygous for the c.1010A>G (p.Tyr337Cys) variant. The patients were claimed not to be related, but originated from the same region in Morocco and the variant was characterised as being in the same haplotype, suggesting a founder effect. Found at a frequency of 1/121332 in Exac.
Mitochondrial disorders v1.120 HARS2 Ellen McDonagh Publications for gene: HARS2 were set to
Mitochondrial disorders v1.119 HARS2 Ellen McDonagh Classified gene: HARS2 as Green List (high evidence)
Mitochondrial disorders v1.119 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.
Mitochondrial disorders v1.119 HARS2 Ellen McDonagh Gene: hars2 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.118 PET117 Ellen McDonagh Classified gene: PET117 as Red List (low evidence)
Mitochondrial disorders v1.118 PET117 Ellen McDonagh Added comment: Comment on list classification: Two sisters reported in PMID: 28386624.
Mitochondrial disorders v1.118 PET117 Ellen McDonagh Gene: pet117 has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.117 PET117 Ellen McDonagh gene: PET117 was added
gene: PET117 was added to Mitochondrial disorders. Sources: Expert list
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
Mitochondrial disorders v1.116 OXA1L Ellen McDonagh Classified gene: OXA1L as Red List (low evidence)
Mitochondrial disorders v1.116 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 only has a single family report.
Mitochondrial disorders v1.116 OXA1L Ellen McDonagh Gene: oxa1l has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.115 CEP89 Ellen McDonagh Classified gene: CEP89 as Red List (low evidence)
Mitochondrial disorders v1.115 CEP89 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 only has a single published report.
Mitochondrial disorders v1.115 CEP89 Ellen McDonagh Gene: cep89 has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.114 TMEM126B Ellen McDonagh Publications for gene: TMEM126B were set to 27374774
Mitochondrial disorders v1.113 TMEM126B Ellen McDonagh Classified gene: TMEM126B as Green List (high evidence)
Mitochondrial disorders v1.113 TMEM126B Ellen McDonagh Added comment: Comment on list classification: Sufficient evidence for this gene to now be promoted from Amber to Green.
Mitochondrial disorders v1.113 TMEM126B Ellen McDonagh Gene: tmem126b has been classified as Green List (High Evidence).
Mitochondrial disorders v1.112 TIMMDC1 Ellen McDonagh Classified gene: TIMMDC1 as Amber List (moderate evidence)
Mitochondrial disorders v1.112 TIMMDC1 Ellen McDonagh Gene: timmdc1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.111 TIMMDC1 Ellen McDonagh gene: TIMMDC1 was added
gene: TIMMDC1 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: TIMMDC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TIMMDC1 were set to 28604674
Phenotypes for gene: TIMMDC1 were set to Mitochondrial complex I deficiency, nuclear type 31, 618251
Added comment: PMID: 28604674 - 3 unrelated cases with the same intronic variant and expression data.
Sources: Expert list
Mitochondrial disorders v1.110 ECSIT Ellen McDonagh Classified gene: ECSIT as Red List (low evidence)
Mitochondrial disorders v1.110 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.
Mitochondrial disorders v1.110 ECSIT Ellen McDonagh Gene: ecsit has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.109 TOP3A Ellen McDonagh gene: TOP3A was added
gene: TOP3A was added to Mitochondrial disorders. Sources: Expert list
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
Review for gene: TOP3A was set to RED
Added comment: Currently one case reported (see publication).
Sources: Expert list
Mitochondrial disorders v1.108 SAMHD1 Ellen McDonagh Classified gene: SAMHD1 as Red List (low evidence)
Mitochondrial disorders v1.108 SAMHD1 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 Red on this panel due to the clinical indication - Aicardi-Goutieres syndrome 5 is not a primary mitochondrial disorder.
Mitochondrial disorders v1.108 SAMHD1 Ellen McDonagh Gene: samhd1 has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.107 LIPT2 Ellen McDonagh Phenotypes for gene: LIPT2 were changed from to Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668
Mitochondrial disorders v1.106 LIPT2 Ellen McDonagh Publications for gene: LIPT2 were set to
Mitochondrial disorders v1.105 LIPT2 Ellen McDonagh Classified gene: LIPT2 as Green List (high evidence)
Mitochondrial disorders v1.105 LIPT2 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. 3 patients (2 are siblings) reported with biallelic variants in this gene and severe neonatal encephalopathy, with functional evidence supporting a mitochondrial lipoylation defect as well as this protein being in the same pathway as LIPT1.
Mitochondrial disorders v1.105 LIPT2 Ellen McDonagh Gene: lipt2 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.104 ISCA1 Ellen McDonagh Classified gene: ISCA1 as Green List (high evidence)
Mitochondrial disorders v1.104 ISCA1 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. A homozygous variant has been reported in two unrelated Indian families, and a second case homozygous for a different variant has been reported.
Mitochondrial disorders v1.104 ISCA1 Ellen McDonagh Gene: isca1 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.103 ISCA1 Ellen McDonagh gene: ISCA1 was added
gene: ISCA1 was added to Mitochondrial disorders. Sources: Expert list,Expert Review
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
Added comment: This gene was added to this panel, after being added to the 'Pyruvate dehydrogenase (PDH) deficiency' gene panel. The gene and information added for the 'Pyruvate dehydrogenase (PDH) deficiency' gene panel was collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: ISCA1; Suggested intial gene rating: Green; Information provided: Mode of inheritance, phenotype and publication.
Sources: Expert list, Expert Review
Mitochondrial disorders v1.102 PDPR Ellen McDonagh Classified gene: PDPR as Red List (low evidence)
Mitochondrial disorders v1.102 PDPR Ellen McDonagh Added comment: Comment on list classification: Confirmed in the GMS Mitochondrial Specialist Group Meeting on 25th February 2019 that this should be Red, as no further published evidence has come out.
Mitochondrial disorders v1.102 PDPR Ellen McDonagh Gene: pdpr has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.101 OXA1L Ellen McDonagh reviewed gene: OXA1L: Rating: ; Mode of pathogenicity: None; Publications: 30201738; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v1.101 LYRM7 Ellen McDonagh Phenotypes for gene: LYRM7 were changed from Isolated complex III deficiency to Isolated complex III deficiency; Mitochondrial complex III deficiency, nuclear type 8; 615838; leukoencephalopathy and complex III deficiency; severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle
Mitochondrial disorders v1.100 LYRM7 Ellen McDonagh Publications for gene: LYRM7 were set to
Mitochondrial disorders v1.99 LYRM7 Ellen McDonagh Classified gene: LYRM7 as Green List (high evidence)
Mitochondrial disorders v1.99 LYRM7 Ellen McDonagh Added comment: Comment on list classification: Promoted to Green due to new evidence.
Mitochondrial disorders v1.99 LYRM7 Ellen McDonagh Gene: lyrm7 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.98 LYRM7 Ellen McDonagh Mode of inheritance for gene: LYRM7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.97 ISCA2 Anna de Burca Classified gene: ISCA2 as Green List (high evidence)
Mitochondrial disorders v1.97 ISCA2 Anna de Burca Added comment: Comment on list classification: Upgraded to green based on expert review with additional publication.
Mitochondrial disorders v1.97 ISCA2 Anna de Burca Gene: isca2 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.96 RRM2B Rebecca Foulger Phenotypes for gene: RRM2B were changed from Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions (autosomal dominant); 5,613077Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075; Mitochondrial DNA Depletion Syndrome (recessive) to Disorders of mitochondrial DNA maintenance and integrity; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077; Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075; Mitochondrial DNA Depletion Syndrome (recessive)
Mitochondrial disorders v1.95 TWNK Rebecca Foulger Phenotypes for gene: TWNK were changed from Disorders of mitochondrial DNA maintenance and integrity; Progressive external ophthalmoplegia, autosomal dominant, 3, 609286Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Mitochondrial DNA Depletion Syndrome; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions (monoallelic); Mitochondrial Membrane Protein-Associated Neurodegeneration (biallelic); Mitochondrial DNA Depletion Syndrome (biallelic) to Disorders of mitochondrial DNA maintenance and integrity; Progressive external ophthalmoplegia, autosomal dominant, 3, 609286; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Mitochondrial DNA Depletion Syndrome; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions (monoallelic); Mitochondrial Membrane Protein-Associated Neurodegeneration (biallelic); Mitochondrial DNA Depletion Syndrome (biallelic)
Mitochondrial disorders v1.94 SLC25A4 Rebecca Foulger Phenotypes for gene: SLC25A4 were changed from Disorders of mitochondrial DNA maintenance and integrity; Disorders of mitochondrial protein transport; Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418; Progressive External Ophthalmoplegia with Mitochondrial DNADeletions to Disorders of mitochondrial DNA maintenance and integrity; Disorders of mitochondrial protein transport; Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283; Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418; Progressive External Ophthalmoplegia with Mitochondrial DNADeletions
Mitochondrial disorders v1.93 SLC25A13 Rebecca Foulger Phenotypes for gene: SLC25A13 were changed from Citrullinemia, adult-onset type II, 603471Citrullinemia, type II, neonatal-onset, 605814 to Citrullinemia, adult-onset type II, 603471; Citrullinemia, type II, neonatal-onset, 605814
Mitochondrial disorders v1.92 SCO2 Rebecca Foulger Phenotypes for gene: SCO2 were changed from Isolated complex IV deficiency; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377Myopia 6, 608908; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency to Isolated complex IV deficiency; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377; Myopia 6, 608908; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency
Mitochondrial disorders v1.91 NDUFS4 Eleanor Williams Phenotypes for gene: NDUFS4 were changed from Isolated complex I deficiency; Leigh syndrome, 256000Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency to Isolated complex I deficiency; Leigh syndrome, 256000; Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency
Mitochondrial disorders v1.90 FXN Eleanor Williams Phenotypes for gene: FXN were changed from Friedreich ataxia, 229300Friedreich ataxia with retained reflexes, 229300 to Friedreich ataxia, 229300; Friedreich ataxia with retained reflexes, 229300
Mitochondrial disorders v1.89 COX15 Eleanor Williams Phenotypes for gene: COX15 were changed from Isolated complex IV deficiency; Leigh syndrome due to cytochrome c oxidase deficiency, 256000Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency to Isolated complex IV deficiency; Leigh syndrome due to cytochrome c oxidase deficiency, 256000; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency
Mitochondrial disorders v1.88 BCS1L Eleanor Williams Phenotypes for gene: BCS1L were changed from Isolated complex III deficiency; Mitochondrial complex III deficiency, nuclear type 1, 124000Leigh syndrome, 256000Bjornstad syndrome, 262000GRACILE syndrome, 603358; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex III Deficiency to Isolated complex III deficiency; Mitochondrial complex III deficiency, nuclear type 1, 124000; Leigh syndrome, 256000; Bjornstad syndrome, 262000; GRACILE syndrome, 603358; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex III Deficiency
Mitochondrial disorders v1.87 KARS Eleanor Williams Added comment: Comment on publications: Added publications reported by Zornitza Stark
Mitochondrial disorders v1.87 KARS Eleanor Williams Publications for gene: KARS were set to
Mitochondrial disorders v1.86 KARS Zornitza Stark reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28887846, 25330800, 29615062, 30252186, 28496994; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disorders v1.86 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel
Mitochondrial disorders v1.85 DMPK_CTG Louise Daugherty GRCh37 position for DMPK_CTG was changed from 46273460-46273522 to 46273463-46273522.
GRCh38 position for DMPK_CTG was changed from 45770205-45770263 to 45770205-45770264.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Mitochondrial disorders v1.84 TIMM50 Sarah Leigh Marked gene: TIMM50 as ready
Mitochondrial disorders v1.84 TIMM50 Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 2 variants identified in 2 unrelated cases in peer reviewed literature. An additional biallelic variant has been reported in a case with intractable epilepsy and developmental delay accompanied by 3-methylglutaconic aciduria a meeting abstract.
Mitochondrial disorders v1.84 TIMM50 Sarah Leigh Gene: timm50 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.84 TIMM50 Sarah Leigh Tag watchlist tag was added to gene: TIMM50.
Mitochondrial disorders v1.84 TIMM50 Sarah Leigh Classified gene: TIMM50 as Amber List (moderate evidence)
Mitochondrial disorders v1.84 TIMM50 Sarah Leigh Gene: timm50 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.83 TIMM50 Sarah Leigh Phenotypes for gene: TIMM50 were changed from 3-methylglutaconic aciduria, type IX, MIM#617698 to 3-methylglutaconic aciduria, type IX 617698
Mitochondrial disorders v1.82 MRPS34 Sarah Leigh Marked gene: MRPS34 as ready
Mitochondrial disorders v1.82 MRPS34 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 4 variants reported in 3 unrelated cases.
Mitochondrial disorders v1.82 MRPS34 Sarah Leigh Gene: mrps34 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.82 MRPS34 Sarah Leigh Classified gene: MRPS34 as Green List (high evidence)
Mitochondrial disorders v1.82 MRPS34 Sarah Leigh Gene: mrps34 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.81 MRPS34 Sarah Leigh Phenotypes for gene: MRPS34 were changed from Combined oxidative phosphorylation deficiency 32, MIM#617664 to Combined oxidative phosphorylation deficiency 32 617664
Mitochondrial disorders v1.80 FDXR Sarah Leigh Marked gene: FDXR as ready
Mitochondrial disorders v1.80 FDXR Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in 3 unrelated cases.
Mitochondrial disorders v1.80 FDXR Sarah Leigh Gene: fdxr has been classified as Green List (High Evidence).
Mitochondrial disorders v1.80 FDXR Sarah Leigh Phenotypes for gene: FDXR were changed from Auditory neuropathy and optic atrophy, MIM#617717 to Auditory neuropathy and optic atrophy 617717
Mitochondrial disorders v1.79 FDXR Sarah Leigh Classified gene: FDXR as Green List (high evidence)
Mitochondrial disorders v1.79 FDXR Sarah Leigh Gene: fdxr has been classified as Green List (High Evidence).
Mitochondrial disorders v1.78 C1QBP Sarah Leigh Marked gene: C1QBP as ready
Mitochondrial disorders v1.78 C1QBP Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 4 variants reported 4 unrelated cases.
Mitochondrial disorders v1.78 C1QBP Sarah Leigh Gene: c1qbp has been classified as Green List (High Evidence).
Mitochondrial disorders v1.78 C1QBP Sarah Leigh Classified gene: C1QBP as Green List (high evidence)
Mitochondrial disorders v1.78 C1QBP Sarah Leigh Gene: c1qbp has been classified as Green List (High Evidence).
Mitochondrial disorders v1.75 DMPK_CTG Arianna Tucci Phenotypes for STR: DMPK_CTG were changed from to Myotonic dystrophy 1 160900
Mitochondrial disorders v1.74 FXN_GAA Arianna Tucci Phenotypes for STR: FXN_GAA were changed from to Friedreich ataxia 229300
Mitochondrial disorders v1.73 FXN_GAA Louise Daugherty Tag STR tag was added to STR: FXN_GAA.
Mitochondrial disorders v1.73 DMPK_CTG Louise Daugherty Tag STR tag was added to STR: DMPK_CTG.
Mitochondrial disorders v1.73 FXN_GAA Arianna Tucci Marked STR: FXN_GAA as ready
Mitochondrial disorders v1.73 FXN_GAA Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Mitochondrial disorders v1.73 FXN_GAA Arianna Tucci Str: fxn_gaa has been classified as Green List (High Evidence).
Mitochondrial disorders v1.73 FXN_GAA Arianna Tucci Classified STR: FXN_GAA as Green List (high evidence)
Mitochondrial disorders v1.73 FXN_GAA Arianna Tucci Str: fxn_gaa has been classified as Green List (High Evidence).
Mitochondrial disorders v1.72 FXN_GAA Arianna Tucci STR: FXN_GAA was added
STR: FXN_GAA was added to Mitochondrial disorders. Sources: Expert Review
Mode of inheritance for STR: FXN_GAA was set to BIALLELIC, autosomal or pseudoautosomal
Review for STR: FXN_GAA was set to GREEN
Added comment: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Sources: Expert Review
Mitochondrial disorders v1.71 DMPK_CTG Arianna Tucci Marked STR: DMPK_CTG as ready
Mitochondrial disorders v1.71 DMPK_CTG Arianna Tucci Added comment: Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Mitochondrial disorders v1.71 DMPK_CTG Arianna Tucci Str: dmpk_ctg has been classified as Green List (High Evidence).
Mitochondrial disorders v1.71 DMPK_CTG Arianna Tucci Classified STR: DMPK_CTG as Green List (high evidence)
Mitochondrial disorders v1.71 DMPK_CTG Arianna Tucci Str: dmpk_ctg has been classified as Green List (High Evidence).
Mitochondrial disorders v1.70 DMPK_CTG Arianna Tucci STR: DMPK_CTG was added
STR: DMPK_CTG was added to Mitochondrial disorders. Sources: Expert Review
Mode of inheritance for STR: DMPK_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
STR: DMPK_CTG was marked as current diagnostic
Added comment: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Sources: Expert Review
Mitochondrial disorders v1.69 MT-ATP8 Ellen McDonagh commented on gene: MT-ATP8: Comments from Dr Atsuko Okazaki (Division of Genomic Medicine Research, Medical Genomics Center, National Center for Global Health and Medicine, Tokyo, Japan): "Only m.8528T>C (to be exact, it is an overlapping region of MT-ATP6/ATP8) can be reported as a confirmed mutation for infantile hypertrophic cardiomyopathy. In comparison, m.8527A>G is a polymorphism for MT-ATP8 and possibly disease-associated for MT-ATP6 (amber/red) although both m.8527A>G and m.8528T>C are located in MT-ATP8 gene."
Mitochondrial disorders v1.69 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Mitochondrial disorders v1.68 ISCA-37440-Loss Louise Daugherty Region: ISCA-37440-Loss was added
Region: ISCA-37440-Loss was added to Mitochondrial disorders. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37440-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37440-Loss were set to 11524703; 18234729; 16385448
Phenotypes for Region: ISCA-37440-Loss were set to mild/moderate mental retardation; facial dysmorphism; Hypotonia-cystinuria syndrome (HCS); 2p21 deletion syndrome; rapid weight gain in late childhood; failure to thrive; growth hormone deficiency; 606407; lactic acidemia; respiratory chain complex IV deficiency; hyperphagia; minor facial dysmorphism; severe somatic and developmental delay; nephrolithiasis; cystinuria; neonatal seizures; hypotonia
Mitochondrial disorders WARS2 Zornitza Stark reviewed gene: WARS2
Mitochondrial disorders VPS13C Zornitza Stark reviewed gene: VPS13C
Mitochondrial disorders UQCRC2 Zornitza Stark reviewed gene: UQCRC2
Mitochondrial disorders UQCC2 Zornitza Stark reviewed gene: UQCC2
Mitochondrial disorders TUFM Zornitza Stark reviewed gene: TUFM
Mitochondrial disorders TRMT5 Zornitza Stark reviewed gene: TRMT5
Mitochondrial disorders TRIT1 Zornitza Stark reviewed gene: TRIT1
Mitochondrial disorders TMEM126B Zornitza Stark reviewed gene: TMEM126B
Mitochondrial disorders TIMM50 Zornitza Stark Added gene to panel
Mitochondrial disorders STAT2 Zornitza Stark reviewed gene: STAT2
Mitochondrial disorders SLC25A42 Zornitza Stark reviewed gene: SLC25A42
Mitochondrial disorders SLC25A12 Zornitza Stark reviewed gene: SLC25A12
Mitochondrial disorders SLC25A1 Zornitza Stark reviewed gene: SLC25A1
Mitochondrial disorders SDHAF2 Zornitza Stark reviewed gene: SDHAF2
Mitochondrial disorders SAMHD1 Zornitza Stark reviewed gene: SAMHD1
Mitochondrial disorders RTN4IP1 Zornitza Stark reviewed gene: RTN4IP1
Mitochondrial disorders QRSL1 Zornitza Stark reviewed gene: QRSL1
Mitochondrial disorders QARS Zornitza Stark reviewed gene: QARS
Mitochondrial disorders PUS1 Zornitza Stark reviewed gene: PUS1
Mitochondrial disorders PNPLA8 Zornitza Stark reviewed gene: PNPLA8
Mitochondrial disorders PNPLA4 Zornitza Stark reviewed gene: PNPLA4
Mitochondrial disorders PDK3 Zornitza Stark reviewed gene: PDK3
Mitochondrial disorders PARS2 Zornitza Stark reviewed gene: PARS2
Mitochondrial disorders NFS1 Zornitza Stark reviewed gene: NFS1
Mitochondrial disorders NDUFA9 Zornitza Stark reviewed gene: NDUFA9
Mitochondrial disorders NDUFA4 Zornitza Stark reviewed gene: NDUFA4
Mitochondrial disorders NAXE Zornitza Stark reviewed gene: NAXE
Mitochondrial disorders MTFMT Zornitza Stark reviewed gene: MTFMT
Mitochondrial disorders MRPS34 Zornitza Stark Added gene to panel
Mitochondrial disorders MRPS16 Zornitza Stark reviewed gene: MRPS16
Mitochondrial disorders MRPL44 Zornitza Stark reviewed gene: MRPL44
Mitochondrial disorders MRPL40 Zornitza Stark reviewed gene: MRPL40
Mitochondrial disorders MRPL3 Zornitza Stark reviewed gene: MRPL3
Mitochondrial disorders MRPL12 Zornitza Stark reviewed gene: MRPL12
Mitochondrial disorders MPC1 Zornitza Stark reviewed gene: MPC1
Mitochondrial disorders MICU1 Zornitza Stark reviewed gene: MICU1
Mitochondrial disorders MECR Zornitza Stark reviewed gene: MECR
Mitochondrial disorders LYRM7 Zornitza Stark reviewed gene: LYRM7
Mitochondrial disorders LIPT2 Zornitza Stark reviewed gene: LIPT2
Mitochondrial disorders LETM1 Zornitza Stark reviewed gene: LETM1
Mitochondrial disorders ISCU Zornitza Stark reviewed gene: ISCU
Mitochondrial disorders ISCA2 Zornitza Stark reviewed gene: ISCA2
Mitochondrial disorders IER3IP1 Zornitza Stark reviewed gene: IER3IP1
Mitochondrial disorders IDH3B Zornitza Stark reviewed gene: IDH3B
Mitochondrial disorders IARS2 Zornitza Stark reviewed gene: IARS2
Mitochondrial disorders HSD17B10 Zornitza Stark reviewed gene: HSD17B10
Mitochondrial disorders HARS2 Zornitza Stark reviewed gene: HARS2
Mitochondrial disorders GFM2 Zornitza Stark reviewed gene: GFM2
Mitochondrial disorders FXN Zornitza Stark reviewed gene: FXN
Mitochondrial disorders FDXR Zornitza Stark Added gene to panel
Mitochondrial disorders FDX2 Zornitza Stark reviewed gene: FDX2
Mitochondrial disorders DHTKD1 Zornitza Stark reviewed gene: DHTKD1
Mitochondrial disorders DARS Zornitza Stark reviewed gene: DARS
Mitochondrial disorders CYCS Zornitza Stark reviewed gene: CYCS
Mitochondrial disorders CHKB Zornitza Stark reviewed gene: CHKB
Mitochondrial disorders VPS13C Sarah Leigh Added gene to panel
Mitochondrial disorders SLC25A42 Sarah Leigh Added gene to panel
Mitochondrial disorders RTN4IP1 Sarah Leigh Added gene to panel
Mitochondrial disorders PNPLA8 Sarah Leigh Added gene to panel
Mitochondrial disorders PNPLA4 Sarah Leigh Added gene to panel
Mitochondrial disorders NAXE Sarah Leigh Added gene to panel
Mitochondrial disorders MICU1 Sarah Leigh Added gene to panel
Mitochondrial disorders MECR Sarah Leigh Added gene to panel
Mitochondrial disorders IDH3B Sarah Leigh Added gene to panel
Mitochondrial disorders HSD17B10 Sarah Leigh Added gene to panel
Mitochondrial disorders ERCC6L2 Sarah Leigh Added gene to panel
Mitochondrial disorders DTD1 Sarah Leigh Added gene to panel
Mitochondrial disorders CARS2 Zornitza Stark reviewed gene: CARS2
Mitochondrial disorders C1QBP Zornitza Stark Added gene to panel
Mitochondrial disorders C19orf12 Zornitza Stark reviewed gene: C19orf12
Mitochondrial disorders BTD Zornitza Stark reviewed gene: BTD
Mitochondrial disorders APTX Zornitza Stark reviewed gene: APTX
Mitochondrial disorders ANO10 Zornitza Stark reviewed gene: ANO10
Mitochondrial disorders MT-ND4 Ellen McDonagh edited their review of MT-ND4
Mitochondrial disorders ATP5O Louise Daugherty commented on ATP5O
Mitochondrial disorders ATP5G3 Louise Daugherty commented on ATP5G3
Mitochondrial disorders ATP5G2 Louise Daugherty commented on ATP5G2
Mitochondrial disorders ATP5A1 Louise Daugherty commented on ATP5A1
Mitochondrial disorders ATP5C1 Louise Daugherty commented on ATP5C1
Mitochondrial disorders ATP5E Louise Daugherty commented on ATP5E
Mitochondrial disorders ATP5G1 Louise Daugherty commented on ATP5G1
Mitochondrial disorders ATP5I Louise Daugherty commented on ATP5I
Mitochondrial disorders ATP5J Louise Daugherty commented on ATP5J
Mitochondrial disorders ATP5B Louise Daugherty commented on ATP5B
Mitochondrial disorders MDH2 Eleanor Williams classified MDH2 as Green List (high evidence)
Mitochondrial disorders MDH2 Eleanor Williams Added gene to panel
Mitochondrial disorders CARS2 Sarah Leigh commented on CARS2
Mitochondrial disorders SERAC1 Louise Daugherty commented on SERAC1
Mitochondrial disorders IER3IP1 Louise Daugherty classified IER3IP1 as Green List (high evidence)
Mitochondrial disorders IER3IP1 Louise Daugherty Added gene to panel
Mitochondrial disorders HMGCL Louise Daugherty classified HMGCL as Green List (high evidence)
Mitochondrial disorders HMGCL Louise Daugherty Added gene to panel
Mitochondrial disorders DNAJC19 Ellen McDonagh classified DNAJC19 as Green List (high evidence)
Mitochondrial disorders DNAJC19 Ellen McDonagh commented on DNAJC19
Mitochondrial disorders ROBO3 Louise Daugherty classified ROBO3 as green
Mitochondrial disorders ROBO3 Louise Daugherty added ROBO3 to panel
Mitochondrial disorders ROBO3 Louise Daugherty reviewed ROBO3
Mitochondrial disorders DCC Louise Daugherty classified DCC as amber
Mitochondrial disorders DCC Louise Daugherty added DCC to panel
Mitochondrial disorders DCC Louise Daugherty reviewed DCC
Mitochondrial disorders HTRA2 Sarah Leigh classified HTRA2 as green
Mitochondrial disorders HTRA2 Sarah Leigh added HTRA2 to panel
Mitochondrial disorders HTRA2 Sarah Leigh reviewed HTRA2
Mitochondrial disorders NDUFAF6 Sarah Leigh classified NDUFAF6 as green
Mitochondrial disorders NDUFAF6 Sarah Leigh commented on NDUFAF6
Mitochondrial disorders TSFM Sarah Leigh classified TSFM as green
Mitochondrial disorders TSFM Sarah Leigh commented on TSFM
Mitochondrial disorders SLC25A3 Sarah Leigh classified SLC25A3 as green
Mitochondrial disorders MFF Sarah Leigh classified MFF as green
Mitochondrial disorders ATAD3A Richard Scott classified ATAD3A as green
Mitochondrial disorders ATAD3A Richard Scott reviewed ATAD3A
Mitochondrial disorders TANGO2 Ellen McDonagh classified TANGO2 as green
Mitochondrial disorders TANGO2 Ellen McDonagh commented on TANGO2
Mitochondrial disorders TANGO2 Richard Scott added TANGO2 to panel
Mitochondrial disorders TANGO2 Richard Scott reviewed TANGO2
Mitochondrial disorders FLAD1 Ellen McDonagh marked FLAD1 as ready
Mitochondrial disorders FLAD1 Ellen McDonagh classified FLAD1 as green
Mitochondrial disorders FLAD1 Ellen McDonagh commented on FLAD1
Mitochondrial disorders MT-TA Ellen McDonagh edited their review of MT-TA
Mitochondrial disorders MT-RNR2 Ellen McDonagh edited their review of MT-RNR2
Mitochondrial disorders MT-RNR1 Ellen McDonagh edited their review of MT-RNR1
Mitochondrial disorders C10orf2 Louise Daugherty commented on C10orf2
Mitochondrial disorders FDX1L Louise Daugherty commented on FDX1L
Mitochondrial disorders ADCK3 Louise Daugherty commented on ADCK3
Mitochondrial disorders MARS2 Ellen McDonagh edited their review of MARS2
Mitochondrial disorders PPA2 Richard Scott classified PPA2 as green
Mitochondrial disorders PPA2 Richard Scott added PPA2 to panel
Mitochondrial disorders PPA2 Richard Scott reviewed PPA2
Mitochondrial disorders FLAD1 Ellen Thomas classified FLAD1 as amber
Mitochondrial disorders FLAD1 Ellen Thomas commented on FLAD1
Mitochondrial disorders COQ9 Ellen McDonagh edited their review of COQ9
Mitochondrial disorders ATPAF2 Ellen McDonagh edited their review of ATPAF2
Mitochondrial disorders MTFMT Ellen McDonagh edited their review of MTFMT
Mitochondrial disorders MTFMT Ellen McDonagh reviewed MTFMT
Mitochondrial disorders LYRM7 Ellen McDonagh reviewed LYRM7
Mitochondrial disorders ABAT Richard Scott classified ABAT as green
Mitochondrial disorders ABAT Richard Scott reviewed ABAT
Mitochondrial disorders DYM Sarah Leigh commented on DYM
Mitochondrial disorders TMEM126B Carl Fratter reviewed TMEM126B
Mitochondrial disorders TMEM126B Ellen McDonagh classified TMEM126B as amber
Mitochondrial disorders TMEM126B Ellen McDonagh reviewed TMEM126B
Mitochondrial disorders MRPS16 Ellen McDonagh commented on MRPS16