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| Structural eye disease v3.79 | SLC25A24 |
Arina Puzriakova Tag Q4_23_promote_green was removed from gene: SLC25A24. Tag Q4_23_NHS_review was removed from gene: SLC25A24. |
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| Structural eye disease v3.79 | SLC25A24 | Arina Puzriakova reviewed gene: SLC25A24: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.78 | SLC25A24 |
Arina Puzriakova Source Expert Review Green was added to SLC25A24. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Structural eye disease v3.72 | SLC25A24 | Achchuthan Shanmugasundram Classified gene: SLC25A24 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.72 | SLC25A24 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.72 | SLC25A24 | Achchuthan Shanmugasundram Gene: slc25a24 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.71 | SLC25A24 | Achchuthan Shanmugasundram Publications for gene: SLC25A24 were set to 29903433; 29100093; 29100094 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.70 | SLC25A24 | Achchuthan Shanmugasundram Mode of inheritance for gene: SLC25A24 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.69 | SLC25A24 | Achchuthan Shanmugasundram Tag Q4_23_NHS_review tag was added to gene: SLC25A24. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.69 | SLC25A24 | Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: SLC25A24. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.69 | SLC25A24 |
Achchuthan Shanmugasundram changed review comment from: There are six unrelated cases reported in total, of which five cases had c.650G>A (p.Arg217His) variant and one patient had c.649C>T (p.Arg217Cys).; to: There are six unrelated cases reported in total, of which five cases had c.650G>A (p.Arg217His) variant and one patient had c.649C>T (p.Arg217Cys). Both these variants are on the same amino acid. However, these cases were from people of multiple descent/ geographic locations. Experiments from patient-derived fibroblasts demonstrated that SLC25A24 variants lead to mitochondrial dysfunction with increased sensitivity to oxidative stress. |
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| Structural eye disease v3.69 | SLC25A24 | Achchuthan Shanmugasundram changed review comment from: There are six unrelated cases reported in total, of which five cases had c.650G>A (p.Arg217His) variant and one patient had c.649C>T p.Arg217Cys; to: There are six unrelated cases reported in total, of which five cases had c.650G>A (p.Arg217His) variant and one patient had c.649C>T (p.Arg217Cys). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.69 | SLC25A24 | Achchuthan Shanmugasundram reviewed gene: SLC25A24: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100093, 31775791; Phenotypes: Fontaine progeroid syndrome, OMIM:612289; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.58 | SLC25A24 | Hannah Knight reviewed gene: SLC25A24: Rating: AMBER; Mode of pathogenicity: None; Publications: 31775791; Phenotypes: Fontaine progeroid syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.4 | SLC25A24 | Sarah Leigh Publications for gene: SLC25A24 were set to 29100093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.3 | SLC25A24 | Sarah Leigh Phenotypes for gene: SLC25A24 were changed from Gorlin-Chaudhry-Moss Syndrome, GCMS; Fontaine progeroid syndrome, 612289 to Fontaine progeroid syndrome, OMIM; 612289; Fontaine progeroid syndrome, MONDO:0012853 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.91 | SLC25A24 | Nicola Ragge reviewed gene: SLC25A24: Rating: AMBER; Mode of pathogenicity: ; Publications: 29100093; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.89 | SLC25A24 |
Ivone Leong Source NHS GMS was added to SLC25A24. Publications for gene SLC25A24 were changed from to 29100093 |
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| Structural eye disease v0.88 | SLC25A24 |
Ivone Leong Source Expert Review Amber was added to SLC25A24. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Structural eye disease v0.60 | SLC25A24 | Mariya Moosajee reviewed gene: SLC25A24: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Gorlin-Chaudhry-Moss Syndrome, GCMS; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.59 | SLC25A24 |
Ivone Leong gene: SLC25A24 was added gene: SLC25A24 was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: SLC25A24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC25A24 were set to Gorlin-Chaudhry-Moss Syndrome, GCMS; Fontaine progeroid syndrome, 612289 |
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