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| Mitochondrial disease v0.893 | TOMM7 | Zornitza Stark Phenotypes for gene: TOMM7 were changed from Inborn mitochondrial disorder MONDO:0004069, TOMM7-related to Garg-Mishra progeroid syndrome, MIM# 620601 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.892 | TOMM7 | Zornitza Stark edited their review of gene: TOMM7: Changed phenotypes: Garg-Mishra progeroid syndrome, MIM# 620601 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.843 | TOMM7 | Bryony Thompson Publications for gene: TOMM7 were set to DOI:https://doi.org/10.1016/j.xhgg.2022.100148 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.842 | TOMM7 |
Zornitza Stark changed review comment from: Second family reported in PMID 36282599: single affected individual with homozygous missense variant; clinical presentation with progeroid features but functional data supports underlying mitochondrial aetiology.; to: Second family reported in PMID 36282599: single affected individual with homozygous missense variant; clinical presentation with progeroid features but functional data supports underlying mitochondrial aetiology. Maintain Amber rating as the two patients have quite disparate clinical presentations. |
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| Mitochondrial disease v0.842 | TOMM7 | Zornitza Stark edited their review of gene: TOMM7: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.842 | TOMM7 | Zornitza Stark edited their review of gene: TOMM7: Added comment: Second family reported in PMID 36282599: single affected individual with homozygous missense variant; clinical presentation with progeroid features but functional data supports underlying mitochondrial aetiology.; Changed rating: GREEN; Changed publications: 36299998, 36282599 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.841 | TOMM7 | Zornitza Stark Marked gene: TOMM7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.841 | TOMM7 | Zornitza Stark Gene: tomm7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.841 | TOMM7 | Zornitza Stark Classified gene: TOMM7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.841 | TOMM7 | Zornitza Stark Gene: tomm7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.840 | TOMM7 |
Zornitza Stark gene: TOMM7 was added gene: TOMM7 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: TOMM7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOMM7 were set to DOI:https://doi.org/10.1016/j.xhgg.2022.100148 Phenotypes for gene: TOMM7 were set to Inborn mitochondrial disorder MONDO:0004069, TOMM7-related Review for gene: TOMM7 was set to AMBER Added comment: A single case identified with a homozygous variant in TOMM7 (c.73T>C, p.Trp25Arg) that presented with syndromic short stature, skeletal abnormalities, muscle hypotonia, microvesicular liver steatosis, and developmental delay. A mouse model of the missense variant demonstrated a bioenergetic defect and a phenotype of mitochondrial diseases. It also strongly suggested that the variant is hypomorphic because mice homozygous for this variant showed a milder phenotype than those with a homozygous Tomm7 deletion. Sources: Literature |
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| Mitochondrial disease v0.448 | TOMM70 | Zornitza Stark Publications for gene: TOMM70 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.447 | TOMM70 | Zornitza Stark edited their review of gene: TOMM70: Changed publications: 31907385 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.447 | TOMM70 | Zornitza Stark Marked gene: TOMM70 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.447 | TOMM70 | Zornitza Stark Gene: tomm70 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.447 | TOMM70 | Zornitza Stark Classified gene: TOMM70 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.447 | TOMM70 | Zornitza Stark Gene: tomm70 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.446 | TOMM70 |
Zornitza Stark gene: TOMM70 was added gene: TOMM70 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: TOMM70 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TOMM70 were set to Severe anaemia; Lactic acidosis; Developmental delay Review for gene: TOMM70 was set to AMBER Added comment: TOM70 is a member of the TOM complex that transports cytosolic proteins into mitochondria. One individual reported with compound heterozygous variants in TOMM70 [c.794C>T (p.T265M) and c.1745C>T (p.A582V)]. Clinical features included severe anaemia, lactic acidosis, and developmental delay. Some functional data: in vitro cell model compensatory experiments. Sources: Literature |
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