| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disorders v6.4 | SLC25A36 |
Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: SLC25A36. Tag Q4_23_NHS_review was removed from gene: SLC25A36. |
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| Mitochondrial disorders v6.4 | SLC25A36 | Sarah Leigh edited their review of gene: SLC25A36: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v6.3 | SLC25A36 | Sarah Leigh reviewed gene: SLC25A36: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v6.2 | SLC25A36 |
Achchuthan Shanmugasundram Source NHS GMS was added to SLC25A36. Source Expert Review Green was added to SLC25A36. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Mitochondrial disorders v4.127 | SLC25A36 | Achchuthan Shanmugasundram Classified gene: SLC25A36 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.127 | SLC25A36 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there is sufficient evidence available for the association of this gene with green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.127 | SLC25A36 | Achchuthan Shanmugasundram Gene: slc25a36 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.126 | SLC25A36 | Achchuthan Shanmugasundram Phenotypes for gene: SLC25A36 were changed from Hyperinsulinemic hypoglycemia, familial, 8 to Hyperinsulinemic hypoglycemia, familial, 8, OMIM:620211 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.125 | SLC25A36 |
Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: SLC25A36. Tag Q4_23_NHS_review tag was added to gene: SLC25A36. |
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| Mitochondrial disorders v4.125 | SLC25A36 | Achchuthan Shanmugasundram reviewed gene: SLC25A36: Rating: GREEN; Mode of pathogenicity: None; Publications: 34576089, 34971397, 36695547; Phenotypes: Hyperinsulinemic hypoglycemia, familial, 8, OMIM:620211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.113 | SLC25A36 |
Hannah Knight gene: SLC25A36 was added gene: SLC25A36 was added to Mitochondrial disorders. Sources: Literature Mode of inheritance for gene: SLC25A36 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A36 were set to 34576089; 34971397; 36695547 Phenotypes for gene: SLC25A36 were set to Hyperinsulinemic hypoglycemia, familial, 8 Review for gene: SLC25A36 was set to GREEN Added comment: More than three cases reported in past three years PMID: 34576089 (2021) - first case, a 12-year-old patient with hypothyroidism, hyperinsulinism, hyperammonemia, chronical obstipation, short stature, along with language and general developmental delay. Homozygous frameshift variant identified c.803dupT, p.Ser269llefs*35 PMID: 34971397 (2022) - two siblings with homozygous splice site variant PMID: 36695547 (2023) - four individuals of two Bedouin Israeli related families - same homozygous splice site variant identified Sources: Literature |
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