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| Mitochondrial disorder with complex V deficiency v1.17 | ATP5G3 |
Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: ATP5G3. Tag Q3_22_NHS_review was removed from gene: ATP5G3. |
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| Mitochondrial disorder with complex V deficiency v1.17 | ATP5G3 | Achchuthan Shanmugasundram reviewed gene: ATP5G3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v1.16 | ATP5G3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ATP5G3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Mitochondrial disorder with complex V deficiency v1.15 | ATP5G3 | Arina Puzriakova Publications for gene: ATP5G3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v1.14 | ATP5G3 | Arina Puzriakova Phenotypes for gene: ATP5G3 were changed from No OMIM phenotype to Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v1.13 | ATP5G3 | Arina Puzriakova Mode of inheritance for gene: ATP5G3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v1.10 | ATP5G3 | Arina Puzriakova edited their review of gene: ATP5G3: 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 rating: GREEN; Changed publications to: 34636445, 34954817; Changed phenotypes to: Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v1.8 | ATP5G3 |
Arina Puzriakova Tag Q3_22_rating tag was added to gene: ATP5G3. Tag Q3_22_NHS_review tag was added to gene: ATP5G3. |
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| Mitochondrial disorder with complex V deficiency v1.8 | ATP5G3 | Arina Puzriakova commented on gene: ATP5G3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v0.25 | ATP5G3 | Ellen McDonagh Marked gene: ATP5G3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v0.25 | ATP5G3 | Ellen McDonagh Added comment: Comment when marking as ready: 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 V deficiency v0.25 | ATP5G3 | Ellen McDonagh Gene: atp5g3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v0.22 | ATP5G3 | Carl Fratter reviewed gene: ATP5G3: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v0.12 | ATP5G3 | Ellen McDonagh Classified gene: ATP5G3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v0.12 | ATP5G3 | Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v0.12 | ATP5G3 | Ellen McDonagh Gene: atp5g3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v0.3 | ATP5G3 | Ivone Leong Tag new-gene-name tag was added to gene: ATP5G3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v0.3 | ATP5G3 | Ivone Leong commented on gene: ATP5G3: ATP5G3 has a new gene name: ATP5MC3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v0.3 | ATP5G3 | Ivone Leong reviewed gene: ATP5G3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex V deficiency v0.2 | ATP5G3 |
Ivone Leong gene: ATP5G3 was added gene: ATP5G3 was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ATP5G3 was set to Unknown Phenotypes for gene: ATP5G3 were set to No OMIM phenotype |
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