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Early onset or syndromic epilepsy v2.491 ALG14 Sarah Leigh Tag for-review was removed from gene: ALG14.
Early onset or syndromic epilepsy v2.491 ALG14 Sarah Leigh commented on gene: ALG14: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.490 ALG14 Sarah Leigh Source Expert Review Green was added to ALG14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.287 ALG14 Sarah Leigh commented on gene: ALG14: For-review tag has been added to highlight whether this gene should be green on this panel due to the uncoupling of metabolic genes from Genetic epilepsy syndromes panel.
Early onset or syndromic epilepsy v2.277 ALG14 Sarah Leigh edited their review of gene: ALG14: Changed rating: GREEN
Early onset or syndromic epilepsy v2.274 ALG14 Helen Lord reviewed gene: ALG14: Rating: GREEN; Mode of pathogenicity: None; Publications: 28733338, 30221345; Phenotypes: epilepsy, behavioural problems, severe developmental delay, mild dysmorphic features, severe neurodegeneration with myopathic and myasthenic features; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v2.115 ALG14 Sarah Leigh Classified gene: ALG14 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v2.115 ALG14 Sarah Leigh Gene: alg14 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v2.114 ALG14 Sarah Leigh gene: ALG14 was added
gene: ALG14 was added to Genetic epilepsy syndromes. Sources: Literature
for-review tags were added to gene: ALG14.
Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG14 were set to 28733338; 23404334; 30221345
Phenotypes for gene: ALG14 were set to Congenital myasthenic syndrome; ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227
Review for gene: ALG14 was set to AMBER
Added comment: 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.
Sources: Literature
Early onset or syndromic epilepsy v1.191 ALG12 Rebecca Foulger Source Wessex and West Midlands GLH was added to ALG12.
Early onset or syndromic epilepsy v1.191 ALG1 Rebecca Foulger Source Wessex and West Midlands GLH was added to ALG1.
Early onset or syndromic epilepsy v1.191 ALG13 Rebecca Foulger Source Wessex and West Midlands GLH was added to ALG13.
Early onset or syndromic epilepsy v1.191 ALG11 Rebecca Foulger Source Wessex and West Midlands GLH was added to ALG11.
Early onset or syndromic epilepsy v1.190 ALG12 Rebecca Foulger Source NHS GMS was added to ALG12.
Early onset or syndromic epilepsy v1.190 ALG1 Rebecca Foulger Source NHS GMS was added to ALG1.
Early onset or syndromic epilepsy v1.190 ALG13 Rebecca Foulger Source NHS GMS was added to ALG13.
Early onset or syndromic epilepsy v1.190 ALG11 Rebecca Foulger Source NHS GMS was added to ALG11.
Early onset or syndromic epilepsy v1.189 ALG12 Rebecca Foulger reviewed gene: ALG12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ALG1 Rebecca Foulger reviewed gene: ALG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ALG13 Rebecca Foulger reviewed gene: ALG13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ALG11 Rebecca Foulger reviewed gene: ALG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 ALG12 Tracy Lester reviewed gene: ALG12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation type Ig, 607143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 ALG1 Tracy Lester reviewed gene: ALG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20679665; Phenotypes: Congenital disorder of glycosylation, type Ik, 608540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 ALG13 Tracy Lester reviewed gene: ALG13: Rating: GREEN; Mode of pathogenicity: ; Publications: 23033978, 24501762; Phenotypes: Epileptic encephalopathy, early infantile, 36, 300884, ?Congenital disorder of glycosylation, type Is, 300884; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.188 ALG11 Tracy Lester reviewed gene: ALG11: Rating: GREEN; Mode of pathogenicity: ; Publications: 20080937, 22213132 ; Phenotypes: Congenital disorder of glycosylation, type Ip, 613661; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy ALG12 Sarah Leigh marked gene: ALG12 as ready
Early onset or syndromic epilepsy ALG12 Sarah Leigh classified ALG12 as Red List (low evidence)
Early onset or syndromic epilepsy ALG1 Sarah Leigh marked gene: ALG1 as ready
Early onset or syndromic epilepsy ALG1 Sarah Leigh classified ALG1 as Green List (high evidence)
Early onset or syndromic epilepsy ALG12 Arianna Tucci reviewed gene: ALG12
Early onset or syndromic epilepsy ALG1 Arianna Tucci reviewed gene: ALG1
Early onset or syndromic epilepsy ALG1 Sarah Leigh Added gene to panel