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Congenital disorders of glycosylation v2.80 ALG14 Sarah Leigh changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Congenital disorders of glycosylation v2.80 ALG14 Sarah Leigh Tag for-review was removed from gene: ALG14.
Congenital disorders of glycosylation v2.80 ALG14 Sarah Leigh commented on gene: ALG14: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Congenital disorders of glycosylation v2.79 ALG14 Sarah Leigh Source Expert Review Green was added to ALG14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v2.14 ALG14 Sarah Leigh commented on gene: ALG14: There is enough evidence for this gene to be rated GREEN at the next major review.
Congenital disorders of glycosylation v2.14 ALG14 Sarah Leigh Classified gene: ALG14 as Amber List (moderate evidence)
Congenital disorders of glycosylation 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.
Congenital disorders of glycosylation v2.14 ALG14 Sarah Leigh Gene: alg14 has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v2.13 ALG14 Sarah Leigh Publications for gene: ALG14 were set to 27604308; 23404334
Congenital disorders of glycosylation v2.12 ALG14 Sarah Leigh Tag for-review tag was added to gene: ALG14.
Congenital disorders of glycosylation v1.19 ALG14 Zornitza Stark reviewed gene: ALG14: Rating: GREEN; Mode of pathogenicity: None; Publications: 28733338, 30221345; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital disorders of glycosylation ALG14 Sarah Leigh marked ALG14 as ready
Congenital disorders of glycosylation ALG14 Sarah Leigh commented on ALG14
Congenital disorders of glycosylation ALG14 Daniel Ungar reviewed ALG14