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Mitochondrial DNA maintenance disorder v3.4 | SUCLA2 | Arina Puzriakova Phenotypes for gene: SUCLA2 were changed from Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v3.3 | SPG7 | Sarah Leigh Tag Q2_23_MOI was removed from gene: SPG7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v3.3 | SPG7 | Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. Numerous biallelic SPG7 variants have been reported (PMIDs: 9635427; 16534102; 17646629; 18200586, 20186691; 22571692) and at least five monoallelic SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (PMIDs: 18200586; 22571692). For this reason, the mode of inheritance for this gene should be BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form).; to: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. Numerous biallelic SPG7 variants have been reported (PMIDs: 9635427; 16534102; 17646629; 18200586, 20186691; 22571692) and at least five monoallelic SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (PMIDs: 18200586; 22571692). For this reason, the mode of inheritance for this gene should be BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v3.3 | SPG7 | Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. Numerous biallelic SPG7 variants have been reported (PMIDs: 9635427; 16534102; 17646629; 18200586, 20186691; 22571692) and at least five monoallelic SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (PMIDs: 18200586; 22571692). For this reason, the mode of inheritance for this gene should be BOTH monoallelic and biallelic, autosomal or pseudoautosomal.; to: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. Numerous biallelic SPG7 variants have been reported (PMIDs: 9635427; 16534102; 17646629; 18200586, 20186691; 22571692) and at least five monoallelic SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (PMIDs: 18200586; 22571692). For this reason, the mode of inheritance for this gene should be BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v3.3 | SPG7 | Sarah Leigh edited their review of gene: SPG7: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v3.3 | SPG7 | Sarah Leigh Publications for gene: SPG7 were set to 24727571 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v3.2 | SPG7 | Sarah Leigh Tag Q2_23_MOI tag was added to gene: SPG7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v3.2 | SPG7 | Sarah Leigh reviewed gene: SPG7: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v3.2 | SPG7 | Sarah Leigh Phenotypes for gene: SPG7 were changed from Progressive external ophthalmoplegia with mitochondrial DNA deletions to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v3.1 | Achchuthan Shanmugasundram Panel version 3.0 has been signed off on 2023-03-22 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v3.0 | Achchuthan Shanmugasundram promoted panel to version 3.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v2.3 | TFAM |
Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: TFAM. Tag Q3_22_NHS_review was removed from gene: TFAM. |
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Mitochondrial DNA maintenance disorder v2.3 | SSBP1 |
Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: SSBP1. Tag Q3_22_NHS_review was removed from gene: SSBP1. |
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Mitochondrial DNA maintenance disorder v2.3 | LIG3 | Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: LIG3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v2.3 | TFAM | Achchuthan Shanmugasundram reviewed gene: TFAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v2.3 | SSBP1 | Achchuthan Shanmugasundram reviewed gene: SSBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v2.3 | LIG3 | Achchuthan Shanmugasundram reviewed gene: LIG3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v2.2 | TFAM |
Achchuthan Shanmugasundram Source Expert Review Green was added to TFAM. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Mitochondrial DNA maintenance disorder v2.2 | SSBP1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SSBP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Mitochondrial DNA maintenance disorder v2.2 | LIG3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to LIG3. Source NHS GMS was added to LIG3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Mitochondrial DNA maintenance disorder v2.1 | Achchuthan Shanmugasundram Panel version 2.0 has been signed off on 2022-11-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v2.0 | Achchuthan Shanmugasundram promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v1.24 | TWNK | Arina Puzriakova Phenotypes for gene: TWNK were changed from Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286 to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286; Perrault syndrome 5, OMIM:616138 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v1.23 | POLG2 | Arina Puzriakova Publications for gene: POLG2 were set to 30157269 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v1.22 | POLG2 | Arina Puzriakova Phenotypes for gene: POLG2 were changed from Mitochondrial DNA depletion syndrome, NA; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 to Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528; Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v1.21 | TFAM | Arina Puzriakova Publications for gene: TFAM were set to 27448789 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v1.20 | 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 DNA maintenance disorder v1.19 | SSBP1 | Arina Puzriakova Classified gene: SSBP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v1.19 | SSBP1 | Arina Puzriakova Gene: ssbp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v1.18 | SSBP1 | Arina Puzriakova Publications for gene: SSBP1 were set to 29182774 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v1.17 | SSBP1 | Arina Puzriakova Phenotypes for gene: SSBP1 were changed from No OMIM phenotype to Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v1.16 | TWNK | Arina Puzriakova reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM: 609286, Perrault syndrome 5, OMIM: 616138, Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM 271245; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v1.16 | POLG2 | Arina Puzriakova reviewed gene: POLG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31778857, 21555342, 27592148, 16685652; Phenotypes: ?Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM: 618528, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM: 610131, ?Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM: 619425; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v1.15 | TFAM | Arina Puzriakova reviewed gene: TFAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 31785789, 32399598, 27448789, 34647195; Phenotypes: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), OMIM: 617156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v1.14 | SSBP1 | Arina Puzriakova commented on gene: SSBP1: Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that this gene requires a rating upgrade from Amber to Green. MOI has also been updated from unknown to both mono- and biallelic inline with this review. Carl Fratter mentions additional cases have been seen within NHS GMS (not published). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v1.13 | SSBP1 | Arina Puzriakova reviewed gene: SSBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34905022, 31550240, 31550237, 31298765, 31479473; Phenotypes: Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v1.12 | TFAM |
Arina Puzriakova Tag Q3_22_rating tag was added to gene: TFAM. Tag Q3_22_NHS_review tag was added to gene: TFAM. |
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Mitochondrial DNA maintenance disorder v1.12 | SSBP1 | Arina Puzriakova Mode of pathogenicity for gene: SSBP1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v1.11 | SSBP1 | Arina Puzriakova Mode of inheritance for gene: SSBP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v1.10 | SSBP1 |
Arina Puzriakova Tag Q3_22_rating tag was added to gene: SSBP1. Tag Q3_22_NHS_review tag was added to gene: SSBP1. |
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Mitochondrial DNA maintenance disorder v1.10 | 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 DNA maintenance disorder v1.9 | AFG3L2 | Arina Puzriakova Phenotypes for gene: AFG3L2 were changed from Progressive external ophthalmoplegia with mitochondrial DNA deletions to Optic atrophy 12, OMIM:618977; Spinocerebellar ataxia 28, OMIM:610246; Spastic ataxia 5, autosomal recessive, OMIM:614487 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v1.8 | OPA1 | Arina Puzriakova Phenotypes for gene: OPA1 were changed from Optic atrophy 1, 165500; Optic atrophy plus syndrome, 125250 to Optic atrophy 1, OMIM:165500; Optic atrophy plus syndrome, OMIM:125250; Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896; Behr syndrome, OMIM:210000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v1.7 | MFN2 | Arina Puzriakova Phenotypes for gene: MFN2 were changed from Mitochondrial DNA depletion syndrome; Optic atrophy plus to Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM:617087; Hereditary motor and sensory neuropathy VIA, OMIM:601152 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v1.6 | DNM2 | Arina Puzriakova commented on gene: DNM2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v1.5 | 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 DNA maintenance disorder v1.4 | LIG3 | Ivone Leong Entity copied from White matter disorders and cerebral calcification - narrow panel v1.100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v1.4 | LIG3 |
Ivone Leong gene: LIG3 was added gene: LIG3 was added to Mitochondrial DNA maintenance disorder. 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 |
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Mitochondrial DNA maintenance disorder v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v1.0 | SSBP1 | Carl Fratter reviewed gene: SSBP1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 31298765, 31550240; Phenotypes: optic atrophy, optic atrophy with additional features (including retinal degeneration); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v1.0 | Ellen McDonagh promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.12 |
Ellen McDonagh List of related panels changed from to R352 Panel types changed to GMS Rare Disease; GMS signed-off |
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Mitochondrial DNA maintenance disorder v0.11 | TOP3A | Ellen McDonagh Marked gene: TOP3A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.11 | TOP3A | Ellen McDonagh Gene: top3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.11 | TOP3A | Ellen McDonagh Classified gene: TOP3A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.11 | TOP3A | Ellen McDonagh Added comment: Comment on list classification: Update recieved from Carl Fratter on 24th July 2019 on behalf of the NHSE GMS Mitochondrial Specialist Group: After overall review by the GMS mitochondrial specialist test group, this gene was agreed to be Green on this panel, as the Newcastle team are aware of another unrelated case, and it was made Green with agreement from the group on the Possible mitochondrial disorder - nuclear genes gene panel (code 539, version 0.206). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.11 | TOP3A | Ellen McDonagh Gene: top3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.10 | SSBP1 | Sarah Leigh Publications for gene: SSBP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.8 | DNM2 | Sarah Leigh Publications for gene: DNM2 were set to 25492887, 25492887 (abstract) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.7 | TFAM | Anna de Burca Classified gene: TFAM as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.7 | TFAM | Anna de Burca Added comment: Comment on list classification: Comment on list classification: Single case report of homozygous missense variants in two siblings from a consanguineous kindred with IUGR, liver failure and death in early infancy. Agreed on specialist group teleconference 25.02.19 that an amber rating was appropriate pending further evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.7 | TFAM | Anna de Burca Gene: tfam has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.6 | TOP3A | Ellen McDonagh Classified gene: TOP3A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.6 | TOP3A | Ellen McDonagh Added comment: Comment on list classification: The evidence underlying this gene and mitochondrial DNA maintenance disorders was discussed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019. It was agreed that this gene should be demoted from Green to Amber on this panel due to only a single case (compound heterozygous for variants in this gene) being reported Progressive external ophthalmoplegia with mitochondrial DNA deletions. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.6 | TOP3A | Ellen McDonagh Gene: top3a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.5 | SSBP1 | Ellen McDonagh Marked gene: SSBP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.5 | SSBP1 | Ellen McDonagh Gene: ssbp1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.5 | SSBP1 | Ellen McDonagh Classified gene: SSBP1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.5 | SSBP1 | 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 as there is currently insufficient evidence in the literature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.5 | SSBP1 | Ellen McDonagh Gene: ssbp1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.4 | SAMHD1 | Ellen McDonagh Marked gene: SAMHD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.4 | SAMHD1 | Ellen McDonagh Added comment: Comment when marking as ready: 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 DNA maintenance disorder v0.4 | SAMHD1 | Ellen McDonagh Gene: samhd1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.4 | ISCA2 | Ellen McDonagh Marked gene: ISCA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.4 | ISCA2 | Ellen McDonagh Added comment: Comment when marking as ready: 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, as the molecular mechanism of variants in this gene being involved in maintenance has not been confirmed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.4 | ISCA2 | Ellen McDonagh Gene: isca2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.4 | AGK | Ellen McDonagh Marked gene: AGK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.4 | AGK | Ellen McDonagh Added comment: Comment when marking as ready: 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, as the molecular mechanism of variants in this gene being involved in maintenance has not been confirmed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.4 | AGK | Ellen McDonagh Gene: agk has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.3 | TFAM | Ivone Leong reviewed gene: TFAM: Rating: RED; Mode of pathogenicity: ; Publications: 27448789; Phenotypes: ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.3 | SSBP1 | Ivone Leong reviewed gene: SSBP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.3 | SAMHD1 | Ivone Leong reviewed gene: SAMHD1: Rating: RED; Mode of pathogenicity: ; Publications: 21102625, 26342080; Phenotypes: Aicardi-Goutieres syndrome 5, 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.3 | ISCA2 | Ivone Leong reviewed gene: ISCA2: Rating: RED; Mode of pathogenicity: ; Publications: 29297947, 25539947; Phenotypes: Multiple mitochondrial dysfunctions syndrome 4, 616370 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.3 | AGK | Ivone Leong reviewed gene: AGK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL DNA DEPLETION SYNDROME 10 (CARDIOMYOPATHIC TYPE), 212350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.3 | TYMP | Ivone Leong reviewed gene: TYMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.3 | TWNK | Ivone Leong reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.3 | TOP3A | Ivone Leong reviewed gene: TOP3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 29290614; Phenotypes: ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.3 | TK2 | Ivone Leong reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937588; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.3 | SUCLG1 | Ivone Leong reviewed gene: SUCLG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.3 | SUCLA2 | Ivone Leong reviewed gene: SUCLA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.3 | SPG7 | Ivone Leong reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: ; Publications: 24727571; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.3 | SLC25A4 | Ivone Leong reviewed gene: SLC25A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 27693233; Phenotypes: Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283, Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.3 | RRM2B | Ivone Leong reviewed gene: RRM2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075, Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.3 | RNASEH1 | Ivone Leong reviewed gene: RNASEH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.3 | POLG2 | Ivone Leong reviewed gene: POLG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30157269; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131, Mitochondrial DNA depletion syndrome, NA; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.3 | POLG | Ivone Leong reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700, Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662, Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459, Progressive external ophthalmoplegia, autosomal dominant 1, 157640, Progressive external ophthalmoplegia, autosomal recessive 1, 258450; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.3 | OPA1 | Ivone Leong reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Optic atrophy 1, 165500, Optic atrophy plus syndrome, 125250 ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.3 | MPV17 | Ivone Leong reviewed gene: MPV17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.3 | MGME1 | Ivone Leong reviewed gene: MGME1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23313956; Phenotypes: Mitochondrial DNA depletion syndrome 11, 615084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.3 | MFN2 | Ivone Leong reviewed gene: MFN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22189565, 22556188; Phenotypes: Optic atrophy plus, Mitochondrial DNA depletion syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.3 | FBXL4 | Ivone Leong reviewed gene: FBXL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25868664; Phenotypes: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.3 | DNM2 | Ivone Leong reviewed gene: DNM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25492887, 25492887 (abstract); Phenotypes: Centronuclear myopathy 1, 160150, Charcot-Marie-Tooth disease, axonal type 2M, 606482, Charcot-Marie-Tooth disease, dominant intermediate B, 606482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.3 | DNA2 | Ivone Leong reviewed gene: DNA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23352259; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.3 | DGUOK | Ivone Leong reviewed gene: DGUOK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.3 | AFG3L2 | Ivone Leong reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25420100; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.3 | ABAT | Ivone Leong reviewed gene: ABAT: Rating: GREEN; Mode of pathogenicity: ; Publications: 25738457; Phenotypes: Mitochondrial DNA depletion syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial DNA maintenance disorder v0.2 | TFAM |
Ivone Leong gene: TFAM was added gene: TFAM was added to Mitochondrial DNA maintenance disorder. Sources: NHS GMS Mode of inheritance for gene: TFAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TFAM were set to 27448789 Phenotypes for gene: TFAM were set to ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156 |
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Mitochondrial DNA maintenance disorder v0.2 | SSBP1 |
Ivone Leong gene: SSBP1 was added gene: SSBP1 was added to Mitochondrial DNA maintenance disorder. Sources: NHS GMS Mode of inheritance for gene: SSBP1 was set to Unknown Phenotypes for gene: SSBP1 were set to No OMIM phenotype |
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Mitochondrial DNA maintenance disorder v0.2 | SAMHD1 |
Ivone Leong gene: SAMHD1 was added gene: SAMHD1 was added to Mitochondrial DNA maintenance disorder. Sources: NHS GMS Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SAMHD1 were set to 21102625, 26342080 Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome 5, 612952 |
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Mitochondrial DNA maintenance disorder v0.2 | ISCA2 |
Ivone Leong gene: ISCA2 was added gene: ISCA2 was added to Mitochondrial DNA maintenance disorder. Sources: NHS GMS Mode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISCA2 were set to 29297947, 25539947 Phenotypes for gene: ISCA2 were set to Multiple mitochondrial dysfunctions syndrome 4, 616370 |
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Mitochondrial DNA maintenance disorder v0.2 | AGK |
Ivone Leong gene: AGK was added gene: AGK was added to Mitochondrial DNA maintenance disorder. Sources: NHS GMS Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGK were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 10 (CARDIOMYOPATHIC TYPE), 212350 |
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Mitochondrial DNA maintenance disorder v0.2 | TYMP |
Ivone Leong gene: TYMP was added gene: TYMP was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 |
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Mitochondrial DNA maintenance disorder v0.2 | TWNK |
Ivone Leong gene: TWNK was added gene: TWNK was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286 |
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Mitochondrial DNA maintenance disorder v0.2 | TOP3A |
Ivone Leong gene: TOP3A was added gene: TOP3A was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TOP3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOP3A were set to 29290614 Phenotypes for gene: TOP3A were set to ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 |
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Mitochondrial DNA maintenance disorder v0.2 | TK2 |
Ivone Leong gene: TK2 was added gene: TK2 was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TK2 were set to 21937588 Phenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 |
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Mitochondrial DNA maintenance disorder v0.2 | SUCLG1 |
Ivone Leong gene: SUCLG1 was added gene: SUCLG1 was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SUCLG1 were set to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 |
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Mitochondrial DNA maintenance disorder v0.2 | SUCLA2 |
Ivone Leong gene: SUCLA2 was added gene: SUCLA2 was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 |
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Mitochondrial DNA maintenance disorder v0.2 | SPG7 |
Ivone Leong gene: SPG7 was added gene: SPG7 was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SPG7 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: SPG7 were set to 24727571 Phenotypes for gene: SPG7 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions |
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Mitochondrial DNA maintenance disorder v0.2 | SLC25A4 |
Ivone Leong gene: SLC25A4 was added gene: SLC25A4 was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SLC25A4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC25A4 were set to 27693233 Phenotypes for gene: SLC25A4 were set to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418 |
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Mitochondrial DNA maintenance disorder v0.2 | RRM2B |
Ivone Leong gene: RRM2B was added gene: RRM2B was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RRM2B was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: RRM2B were set to 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type); Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 |
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Mitochondrial DNA maintenance disorder v0.2 | RNASEH1 |
Ivone Leong gene: RNASEH1 was added gene: RNASEH1 was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RNASEH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNASEH1 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 |
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Mitochondrial DNA maintenance disorder v0.2 | POLG2 |
Ivone Leong gene: POLG2 was added gene: POLG2 was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: POLG2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: POLG2 were set to 30157269 Phenotypes for gene: POLG2 were set to Mitochondrial DNA depletion syndrome, NA; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 |
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Mitochondrial DNA maintenance disorder v0.2 | POLG |
Ivone Leong gene: POLG was added gene: POLG was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662; Progressive external ophthalmoplegia, autosomal dominant 1, 157640; Progressive external ophthalmoplegia, autosomal recessive 1, 258450 |
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Mitochondrial DNA maintenance disorder v0.2 | OPA1 |
Ivone Leong gene: OPA1 was added gene: OPA1 was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: OPA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: OPA1 were set to Optic atrophy 1, 165500; Optic atrophy plus syndrome, 125250 |
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Mitochondrial DNA maintenance disorder v0.2 | MPV17 |
Ivone Leong gene: MPV17 was added gene: MPV17 was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 |
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Mitochondrial DNA maintenance disorder v0.2 | MGME1 |
Ivone Leong gene: MGME1 was added gene: MGME1 was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MGME1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MGME1 were set to 23313956 Phenotypes for gene: MGME1 were set to Mitochondrial DNA depletion syndrome 11, 615084 |
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Mitochondrial DNA maintenance disorder v0.2 | MFN2 |
Ivone Leong gene: MFN2 was added gene: MFN2 was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MFN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MFN2 were set to 22556188; 22189565 Phenotypes for gene: MFN2 were set to Mitochondrial DNA depletion syndrome; Optic atrophy plus |
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Mitochondrial DNA maintenance disorder v0.2 | FBXL4 |
Ivone Leong gene: FBXL4 was added gene: FBXL4 was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FBXL4 were set to 25868664 Phenotypes for gene: FBXL4 were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) |
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Mitochondrial DNA maintenance disorder v0.2 | DNM2 |
Ivone Leong gene: DNM2 was added gene: DNM2 was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DNM2 were set to 25492887, 25492887 (abstract) Phenotypes for gene: DNM2 were set to Charcot-Marie-Tooth disease, dominant intermediate B, 606482; Charcot-Marie-Tooth disease, axonal type 2M, 606482; Centronuclear myopathy 1, 160150 |
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Mitochondrial DNA maintenance disorder v0.2 | DNA2 |
Ivone Leong gene: DNA2 was added gene: DNA2 was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DNA2 were set to 23352259 Phenotypes for gene: DNA2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 |
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Mitochondrial DNA maintenance disorder v0.2 | DGUOK |
Ivone Leong gene: DGUOK was added gene: DGUOK was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070 |
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Mitochondrial DNA maintenance disorder v0.2 | AFG3L2 |
Ivone Leong gene: AFG3L2 was added gene: AFG3L2 was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: AFG3L2 were set to 25420100 Phenotypes for gene: AFG3L2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions |
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Mitochondrial DNA maintenance disorder v0.2 | ABAT |
Ivone Leong gene: ABAT was added gene: ABAT was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABAT were set to 25738457 Phenotypes for gene: ABAT were set to Mitochondrial DNA depletion syndrome |
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Mitochondrial DNA maintenance disorder v0.0 |
Ellen McDonagh Added Panel Mitochondrial DNA maintenance disorder Set panel types to: GMS Rare Disease |