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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.
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.
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)
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)
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)
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.
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.
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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)
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
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
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
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
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
Mitochondrial DNA maintenance disorder v0.0 Ellen McDonagh Added Panel Mitochondrial DNA maintenance disorder
Set panel types to: GMS Rare Disease