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| 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.Lys391Valfsā35) 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 |
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