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| Likely inborn error of metabolism - targeted testing not possible v2.252 | SLC25A32 | Eleanor Williams Tag gene-checked tag was added to gene: SLC25A32. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.406 | SLC25A32 | Catherine Snow commented on gene: SLC25A32: Treatable tag was added based on reports in PMID: 26933868 and 28443623, that riboflavin treatment was effective. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.406 | SLC25A32 | Catherine Snow commented on gene: SLC25A32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.406 | SLC25A32 |
Catherine Snow gene: SLC25A32 was added gene: SLC25A32 was added to Inborn errors of metabolism. Sources: Expert Review Green,Expert list Mode of inheritance for gene: SLC25A32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A32 were set to 26933868; 28443623 Phenotypes for gene: SLC25A32 were set to ?Exercise intolerance, riboflavin-responsive |
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| Likely inborn error of metabolism - targeted testing not possible v1.47 | SLC25A38 |
Ivone Leong Source NHS GMS was added to SLC25A38. Source London North GLH was added to SLC25A38. |
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| Likely inborn error of metabolism - targeted testing not possible v1.47 | SLC25A3 |
Ivone Leong Source NHS GMS was added to SLC25A3. Source London North GLH was added to SLC25A3. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A38 |
Ellen McDonagh Added phenotypes severe, non-syndromic, microcytic/hypochromic sideroblastic anemia; nonsyndromic autosomal recessive congenital sideroblastic anemia; congenital sideroblastic anemias for gene: SLC25A38 Publications for gene SLC25A38 were changed from 27604308 to PMID: 26821380 (potential novel treatment using glycine and folate).; PMID: 19731322 (12 probands with mutations in this gene); PMID: 25985931 (mutations detected in 3 patients in this gene); PMID: 21393332 (11 patients); PMID: 19412178 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A38 |
Ellen McDonagh gene: SLC25A38 was added gene: SLC25A38 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A38 were set to 27604308 Phenotypes for gene: SLC25A38 were set to severe, non-syndromic, microcytic/hypochromic sideroblastic anemia; nonsyndromic autosomal recessive congenital sideroblastic anemia; Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); congenital sideroblastic anemias |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A3 |
Ellen McDonagh Added phenotypes Mitochondrial phosphate carrier deficiency 610773; Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) for gene: SLC25A3 Publications for gene SLC25A3 were changed from 27604308; 17273968; 25681081 to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A3 |
Ellen McDonagh gene: SLC25A3 was added gene: SLC25A3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A3 were set to 27604308; 17273968; 25681081 Phenotypes for gene: SLC25A3 were set to Mitochondrial phosphate carrier deficiency, 610773 |
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