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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 v2.77 ALG10 Sarah Leigh commented on gene: ALG10: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. At least one terminating variant reported.
Congenital disorders of glycosylation v2.77 ALG10 Sarah Leigh Classified gene: ALG10 as Red List (low evidence)
Congenital disorders of glycosylation v2.77 ALG10 Sarah Leigh Added comment: Comment on list classification: Homozygous null ALG10 variant (NM_032834.4) c.1170_1171delAA (p.Lys391Valfsāˆ—35) was found in a Turkish female, with frequent myoclonus (reported at 13 years), rare tonic-clonic seizure, ataxia, mild cognitive dysfunction (reported at 16 years) and scoliosis (PMID 33798445). PMID 33798445 also reports that a yeast alg10 deletion strain was used to re-express human wild-type and the variant ALG10 proteins for functional complementation. They found that while the yeast or human wild type strains resulted in mature reported protein, the variant strain resulted in hypo-glycosylated reporter protein.
Congenital disorders of glycosylation v2.77 ALG10 Sarah Leigh Gene: alg10 has been classified as Red List (Low Evidence).
Congenital disorders of glycosylation v2.76 ALG10 Zornitza Stark gene: ALG10 was added
gene: ALG10 was added to Congenital disorders of glycosylation. Sources: Literature
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
Review for gene: ALG10 was set to RED
Added comment: Single individual with homozygous variant identified in a progressive myoclonus epilepsy cohort.
Sources: Literature
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 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 v1.27 ALG13 Sarah Leigh Mode of inheritance for gene: ALG13 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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 ALG13 Sarah Leigh marked ALG13 as ready
Congenital disorders of glycosylation ALG13 Sarah Leigh commented on ALG13
Congenital disorders of glycosylation ALG13 Sarah Leigh classified ALG13 as red
Congenital disorders of glycosylation ALG12 Sarah Leigh marked ALG12 as ready
Congenital disorders of glycosylation ALG11 Sarah Leigh marked ALG11 as ready
Congenital disorders of glycosylation ALG11 Sarah Leigh commented on ALG11
Congenital disorders of glycosylation ALG1 Sarah Leigh commented on ALG1
Congenital disorders of glycosylation ALG1 Sarah Leigh marked ALG1 as ready
Congenital disorders of glycosylation ALG14 Daniel Ungar reviewed ALG14
Congenital disorders of glycosylation ALG12 Daniel Ungar edited their review of ALG12
Congenital disorders of glycosylation ALG13 Daniel Ungar reviewed ALG13
Congenital disorders of glycosylation ALG12 Daniel Ungar reviewed ALG12
Congenital disorders of glycosylation ALG11 Daniel Ungar reviewed ALG11
Congenital disorders of glycosylation ALG1 Daniel Ungar reviewed ALG1
Congenital disorders of glycosylation ALG12 Sarah Leigh commented on ALG12