Activity
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19 actions
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| Possible mitochondrial disorder, nuclear genes v3.113 | PTCD3 |
Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: PTCD3. Tag Q4_23_NHS_review was removed from gene: PTCD3. |
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| Possible mitochondrial disorder, nuclear genes v3.113 | PTCD3 | Achchuthan Shanmugasundram reviewed gene: PTCD3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v3.112 | PTCD3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PTCD3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Possible mitochondrial disorder, nuclear genes v3.59 | PTCD3 | Sarah Leigh Phenotypes for gene: PTCD3 were changed from ?Combined oxidative phosphorylation deficiency 51, OMIM:619057 to ?Combined oxidative phosphorylation deficiency 51, OMIM:619057; combined oxidative phosphorylation deficiency 51, MONDO:0033631 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v3.58 | PTCD3 |
Sarah Leigh Tag Q4_23_promote_green tag was added to gene: PTCD3. Tag Q4_23_NHS_review tag was added to gene: PTCD3. |
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| Possible mitochondrial disorder, nuclear genes v3.58 | PTCD3 | Sarah Leigh edited their review of gene: PTCD3: Added comment: PTCD3 variants are associated with ?Combined oxidative phosphorylation deficiency 51 (OMIM:619057), but not associated with phenotype in Gen2Phen. At least six variants have been reported in three unrelated cases, with OMIM:619057 (PMID: 30607703; 36450274). Functional studies also support the involvement of PTCD3 variants in this condition (PMID: 30607703; 36450274).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v3.58 | PTCD3 | Sarah Leigh Classified gene: PTCD3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v3.58 | PTCD3 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v3.58 | PTCD3 | Sarah Leigh Gene: ptcd3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v3.57 | PTCD3 | Sarah Leigh Phenotypes for gene: PTCD3 were changed from No OMIM phenotype to ?Combined oxidative phosphorylation deficiency 51, OMIM:619057 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v3.56 | PTCD3 | Sarah Leigh Publications for gene: PTCD3 were set to 30607703; 36450274 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v3.55 | PTCD3 | Sarah Leigh Publications for gene: PTCD3 were set to 30607703 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v3.48 | PTCD3 | Hannah Knight reviewed gene: PTCD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 36450274; Phenotypes: Combined oxidative phosphorylation deficiency 51; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.134 | PTCD3 | Carl Fratter reviewed gene: PTCD3: Rating: AMBER; Mode of pathogenicity: ; Publications: 30607703; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.118 | PTCD3 | Ellen McDonagh Classified gene: PTCD3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.118 | PTCD3 | Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151). PMID: 30607703 describes one case - further evidence needs to be submitted to support promoting this gene family member to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.118 | PTCD3 | Ellen McDonagh Gene: ptcd3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.5 | PTCD3 | Ivone Leong reviewed gene: PTCD3: Rating: GREEN; Mode of pathogenicity: ; Publications: 30607703; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.3 | PTCD3 |
Ivone Leong gene: PTCD3 was added gene: PTCD3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PTCD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTCD3 were set to 30607703 Phenotypes for gene: PTCD3 were set to No OMIM phenotype |
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