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| Likely inborn error of metabolism - targeted testing not possible v4.99 | ALG10 |
Sarah Leigh gene: ALG10 was added gene: ALG10 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Literature,Expert Review Red Mode of inheritance for gene: ALG10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG10 were set to 33798445 Phenotypes for gene: ALG10 were set to Progressive myoclonus epilepsy; CDG |
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| Likely inborn error of metabolism - targeted testing not possible v2.223 | ALG14 | Sarah Leigh Tag for-review was removed from gene: ALG14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.223 | ALG14 | Sarah Leigh commented on gene: ALG14: The rating of this gene has been updated following NHS Genomic Medicine Service approval | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.222 | ALG14 |
Sarah Leigh Source Expert Review Green was added to ALG14. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism - targeted testing not possible v2.15 | ALG14 | Sarah Leigh edited their review of gene: ALG14: Added comment: There is enough evidence for this gene to be rated GREEN at the next major review.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.15 | ALG14 | Sarah Leigh Tag for-review tag was added to gene: ALG14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.15 | ALG14 | Sarah Leigh Publications for gene: ALG14 were set to 27604308; 23404334 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.14 | ALG14 | Sarah Leigh Classified gene: ALG14 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.14 | ALG14 | Sarah Leigh Gene: alg14 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.81 | ALG13 | Sarah Leigh Classified gene: ALG13 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.81 | ALG13 | Sarah Leigh Gene: alg13 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.80 | ALG13 | Sarah Leigh Phenotypes for gene: ALG13 were changed from Intellectual disability; Epileptic encephalopathy; ALG13-CDG (Disorders of protein N-glycosylation); Epileptic encephalopathy, early infantile, 36 300884 to ?Congenital disorder of glycosylation, type Is 300884; Epileptic encephalopathy, early infantile, 36 300884 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | ALG14 |
Ivone Leong Source NHS GMS was added to ALG14. Source London North GLH was added to ALG14. |
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| Likely inborn error of metabolism - targeted testing not possible v1.47 | ALG13 |
Ivone Leong Source NHS GMS was added to ALG13. Source London North GLH was added to ALG13. |
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| Likely inborn error of metabolism - targeted testing not possible v1.47 | ALG12 |
Ivone Leong Source NHS GMS was added to ALG12. Source London North GLH was added to ALG12. |
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| Likely inborn error of metabolism - targeted testing not possible v1.47 | ALG11 |
Ivone Leong Source NHS GMS was added to ALG11. Source London North GLH was added to ALG11. |
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| Likely inborn error of metabolism - targeted testing not possible v1.47 | ALG1 |
Ivone Leong Source NHS GMS was added to ALG1. Source London North GLH was added to ALG1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG13 |
Ellen McDonagh Added phenotypes Epileptic encephalopathy, early infantile, 36 300884; ALG13-CDG (Disorders of protein N-glycosylation) for gene: ALG13 Publications for gene ALG13 were changed from 27604308 to 27604308; 25732998; 22492991 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG13 |
Ellen McDonagh gene: ALG13 was added gene: ALG13 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ALG13 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ALG13 were set to 27604308 Phenotypes for gene: ALG13 were set to Intellectual disability; Epileptic encephalopathy; ALG13-CDG (Disorders of protein N-glycosylation) |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG14 |
Ellen McDonagh Added phenotypes ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Congenital myasthenic sydrome (Disorders of protein N-glycosylation) for gene: ALG14 Publications for gene ALG14 were changed from 27604308 to 27604308; 23404334 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG14 |
Ellen McDonagh gene: ALG14 was added gene: ALG14 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG14 were set to 27604308 Phenotypes for gene: ALG14 were set to ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Congenital myasthenic sydrome (Disorders of protein N-glycosylation) |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG12 |
Ellen McDonagh Added phenotypes Congenital disorder of glycosylation, type Ig 607143; Mannosyltransferase 8 deficiency (Disorders of protein N-glycosylation) for gene: ALG12 Publications for gene ALG12 were changed from 27604308 to 27604308; 17506107; 11983712 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG12 |
Ellen McDonagh gene: ALG12 was added gene: ALG12 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG12 were set to 27604308 Phenotypes for gene: ALG12 were set to Congenital disorder of glycosylation, type Ig 607143; Mannosyltransferase 8 deficiency (Disorders of protein N-glycosylation) |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG11 |
Ellen McDonagh Added phenotypes ALG11-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ip 613661 for gene: ALG11 Publications for gene ALG11 were changed from 27604308; 22213132 to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG11 |
Ellen McDonagh gene: ALG11 was added gene: ALG11 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALG11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG11 were set to 27604308; 22213132 Phenotypes for gene: ALG11 were set to ALG11-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ip 613661 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG1 |
Ellen McDonagh Added phenotypes Mannosyltransferase 1 deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ik 608540 for gene: ALG1 Publications for gene ALG1 were changed from 27604308 to 22966035; 14973782; 26931382 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | ALG1 |
Ellen McDonagh gene: ALG1 was added gene: ALG1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG1 were set to 27604308 Phenotypes for gene: ALG1 were set to Mannosyltransferase 1 deficiency (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ik 608540 |
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