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Mitochondrial disorder with complex I deficiency v2.3 | TIMMDC1 |
Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: TIMMDC1. Tag Q3_22_NHS_review was removed from gene: TIMMDC1. |
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Mitochondrial disorder with complex I deficiency v2.3 | TIMMDC1 | Achchuthan Shanmugasundram reviewed gene: TIMMDC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v2.2 | TIMMDC1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TIMMDC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Mitochondrial disorder with complex I deficiency v1.30 | TIMMDC1 | Arina Puzriakova Phenotypes for gene: TIMMDC1 were changed from Mitochondrial complex I deficiency, nuclear type 31, 618251 to Mitochondrial complex I deficiency, nuclear type 31, OMIM:618251 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v1.29 | TIMMDC1 | Arina Puzriakova Publications for gene: TIMMDC1 were set to 28604674 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v1.18 | TIMMDC1 | Arina Puzriakova edited their review of gene: TIMMDC1: Added comment: Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that this gene requires a rating upgrade from Amber to Green.; Changed publications to: 33278652, 28604674 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v1.16 | TIMMDC1 | Arina Puzriakova reviewed gene: TIMMDC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28604674, 33278652; Phenotypes: Mitochondrial complex I deficiency, nuclear type 31, OMIM:618251; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v1.15 | TIMMDC1 |
Arina Puzriakova Tag Q3_22_rating tag was added to gene: TIMMDC1. Tag Q3_22_NHS_review tag was added to gene: TIMMDC1. |
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Mitochondrial disorder with complex I deficiency v0.65 | TIMMDC1 | Ellen McDonagh Classified gene: TIMMDC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v0.65 | TIMMDC1 | Ellen McDonagh Added comment: Comment on list classification: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v0.65 | TIMMDC1 | Ellen McDonagh Gene: timmdc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v0.36 | TIMMDC1 | Carl Fratter reviewed gene: TIMMDC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28604674; Phenotypes: Mitochondrial complex I deficiency, nuclear type 31, 618251; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v0.35 | TIMMDC1 | Ellen McDonagh Marked gene: TIMMDC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v0.35 | TIMMDC1 | Ellen McDonagh Gene: timmdc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v0.8 | TIMMDC1 | Ellen McDonagh Classified gene: TIMMDC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v0.8 | TIMMDC1 | Ellen McDonagh Added comment: Comment on list classification: Demoted from Green to Amber after discussion on the on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v0.8 | TIMMDC1 | Ellen McDonagh Gene: timmdc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v0.6 | TIMMDC1 | Ellen McDonagh Added comment: Comment on publications: PMID: 28604674 - 3 unrelated cases with the same intronic and expression data. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v0.6 | TIMMDC1 | Ellen McDonagh Publications for gene: TIMMDC1 were set to 28604674 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v0.5 | TIMMDC1 | Ellen McDonagh Publications for gene: TIMMDC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v0.3 | TIMMDC1 | Ivone Leong reviewed gene: TIMMDC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 31, 618251; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disorder with complex I deficiency v0.2 | TIMMDC1 |
Ivone Leong gene: TIMMDC1 was added gene: TIMMDC1 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TIMMDC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TIMMDC1 were set to Mitochondrial complex I deficiency, nuclear type 31, 618251 |