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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)
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 Added comment: Comment on list classification: Associated with Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 in OMIM, but not associated with phenotype in Gen2Phen. At least 6 variants reported in at least 5 cases with varying phenotypes. PMID 23404334 reports compound heterozygous (p.P65L, P.R104*) sibs, who manifested with myasthenic syndromes, but did not have intellectural disability nor seizures and were 62 and 51 years old when reported. PMID 28733338 reports two compound heterozygous (p.D74N, pV141G), (p.D74N, p.R109Q) cases and a homozygous (p.D74N), with early and lethal neurodegeneration with myasthenic and myopathic features, but the cases died before intellectual disability was manifiest. However, seizures were evident in two compound heterozygous families. PMID 30221345 reports a homozygous splicing variant in a case with intellectual disability and seizures. Functional studies were presented showing that this variant resulting in exon skipping, however, this was not completely prenetrant as wild type protein was detected at a low level in the patient.
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 v1.47 ALG14 Ivone Leong Source NHS GMS was added to ALG14.
Source London North GLH was added to ALG14.
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
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)