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Likely inborn error of metabolism - targeted testing not possible v2.96 | SLC25A22 | Eleanor Williams Source: Expert Review Red was removed from gene: SLC25A22 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.95 | SLC25A20 | Eleanor Williams Source: Expert Review Red was removed from gene: SLC25A20 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.47 | SLC25A22 |
Ivone Leong Source NHS GMS was added to SLC25A22. Source London North GLH was added to SLC25A22. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | SLC25A20 |
Ivone Leong Source NHS GMS was added to SLC25A20. Source London North GLH was added to SLC25A20. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | SLC25A2 |
Ivone Leong Source NHS GMS was added to SLC25A2. Source London North GLH was added to SLC25A2. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A2 |
Ellen McDonagh gene: SLC25A2 was added gene: SLC25A2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SLC25A2 was set to Unknown Publications for gene: SLC25A2 were set to 27604308 Phenotypes for gene: SLC25A2 were set to Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A26 |
Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 28; intra-mitochondrial methylation deficiency.; Intra-mitochondrial Methylation Deficiency leading to Clinical findings ranging from neonatal mortality resulting from respiratory insufficiency and hydrops to childhood acute episodes of cardiopulmonary failure and slowly progressive muscle weakness for gene: SLC25A26 Publications for gene SLC25A26 were changed from PMID: 26522469 to 26522469 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A26 |
Ellen McDonagh gene: SLC25A26 was added gene: SLC25A26 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A26 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A26 were set to PMID: 26522469 Phenotypes for gene: SLC25A26 were set to Combined oxidative phosphorylation deficiency 28; intra-mitochondrial methylation deficiency.; Intra-mitochondrial Methylation Deficiency leading to Clinical findings ranging from neonatal mortality resulting from respiratory insufficiency and hydrops to childhood acute episodes of cardiopulmonary failure and slowly progressive muscle weakness |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A22 |
Ellen McDonagh Added phenotypes Epileptic encephalopathy, early infantile, 3, 609304; Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: SLC25A22 Publications for gene SLC25A22 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A22 |
Ellen McDonagh gene: SLC25A22 was added gene: SLC25A22 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A22 were set to Epileptic encephalopathy, early infantile, 3, 609304 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC25A20 |
Ellen McDonagh gene: SLC25A20 was added gene: SLC25A20 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A20 were set to 27604308 Phenotypes for gene: SLC25A20 were set to Carnitine-acylcarnitine translocase deficiency 212138; Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle) |