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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.
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)
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.
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