Activity
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13 actions
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| Mitochondrial disorders v9.43 | TOMM7 | Ida Ertmanska Tag Q2_25_ promote_green was removed from gene: TOMM7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v9.43 | TOMM7 | Ida Ertmanska reviewed gene: TOMM7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v9.42 | TOMM7 |
Ida Ertmanska Source NHS GMS was added to TOMM7. Source Expert Review Green was added to TOMM7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Mitochondrial disorders v9.15 | TOMM7 | Achchuthan Shanmugasundram edited their review of gene: TOMM7: Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v9.14 | TOMM7 | Achchuthan Shanmugasundram Classified gene: TOMM7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v9.14 | TOMM7 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As there are three unrelated cases reported with biallelic TOMM7 variants and this gene has already been recommended for green rating on R63 Possible mitochondrial disorder - nuclear genes (https://panelapp.genomicsengland.co.uk/panels/539/gene/TOMM7/) panel, this gene is being recommended for promotion to green rating on this panel too. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v9.14 | TOMM7 | Achchuthan Shanmugasundram Gene: tomm7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v9.13 | TOMM7 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: TOMM7. Tag Q3_24_NHS_review was removed from gene: TOMM7. Tag Q2_25_ promote_green tag was added to gene: TOMM7. |
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| Mitochondrial disorders v9.13 | TOMM7 | Achchuthan Shanmugasundram Entity copied from Possible mitochondrial disorder - nuclear genes v4.6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v9.13 | TOMM7 |
Achchuthan Shanmugasundram gene: TOMM7 was added gene: TOMM7 was added to Mitochondrial disorders. Sources: Literature,Expert Review Amber Q3_24_promote_green, Q3_24_NHS_review tags were added to gene: TOMM7. Mode of inheritance for gene: TOMM7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOMM7 were set to 36282599; 36299998; 39333057 Phenotypes for gene: TOMM7 were set to Garg-Mishra progeroid syndrome, OMIM:620601; Garg-Mishra progeroid syndrome, MONDO:0957953 |
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| Mitochondrial disorders v2.8 | TOMM70 | Eleanor Williams Classified gene: TOMM70 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.8 | TOMM70 | Eleanor Williams Gene: tomm70 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.7 | TOMM70 |
Eleanor Williams gene: TOMM70 was added gene: TOMM70 was added to Mitochondrial disorders. Sources: Literature Mode of inheritance for gene: TOMM70 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TOMM70 were set to 31907385; 32356556 Phenotypes for gene: TOMM70 were set to Severe anaemia, lactic acidosis; developmental delay; white matter abnormalities Review for gene: TOMM70 was set to AMBER Added comment: Not associated with a disease phenotype in OMIM or Gene2Phenotype PMID: 31907385 - Wei et al 2020 - report a patient with severe anemia, lactic acidosis, and developmental delay in which two compound heterozygous variants in TOMM70 [c.794C>T (p.T265M) and c.1745C>T (p.A582V)] were identified. Functional studies showed that patient-derived cells exhibited multi-oxidative phosphorylation system (OXPHOS) complex defects. Abstract only accessed. PMID: 32356556 - Dutta et al 2020 - report 2 patients with de novo heterozygous missense variants in the C-terminal region of TOMM70. Both patients had shared symptoms including hypotonia, hyper-reflexia, ataxia, dystonia and significant white matter abnormalities. Patient 1 showed severe global developmental delay. However, for patient 1 a neurodevelopmental disorder was noted in infancy, but patient 2 developed as normal until age 4 when neurological regression occurred. Some functional data from Drosophila show that the variants cause partial loss of function. 3 cases but different mode of inheritance and phenotypic presentation. Sources: Literature |
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