| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Possible mitochondrial disorder - nuclear genes v2.5 | TIMMDC1 |
Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: TIMMDC1. Tag Q3_22_NHS_review was removed from gene: TIMMDC1. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v2.5 | TIMMDC1 | Achchuthan Shanmugasundram reviewed gene: TIMMDC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v2.4 | TIMMDC1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TIMMDC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v1.138 | TIMMDC1 | Arina Puzriakova Publications for gene: TIMMDC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v1.137 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v1.103 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v1.98 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v1.97 | TIMMDC1 |
Arina Puzriakova Tag Q3_22_rating tag was added to gene: TIMMDC1. Tag Q3_22_NHS_review tag was added to gene: TIMMDC1. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.134 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.127 | TIMMDC1 | Ellen McDonagh Classified gene: TIMMDC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.127 | TIMMDC1 | Ellen McDonagh Added comment: Comment on list classification: Single report of 3 unrelated cases with SAME INTRONIC VARIANT and expression data but no other functional work. Demoted from Green to Amber after discussion on the on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.127 | TIMMDC1 | Ellen McDonagh Gene: timmdc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.5 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.3 | TIMMDC1 |
Ivone Leong gene: TIMMDC1 was added gene: TIMMDC1 was added to Possible mitochondrial disorder - nuclear genes. 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||