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| Mendeliome v2.346 | ST6GALNAC1 | Zornitza Stark Marked gene: ST6GALNAC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.346 | ST6GALNAC1 | Zornitza Stark Gene: st6galnac1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.110 | ST6GALNAC1 |
Sarah Milton gene: ST6GALNAC1 was added gene: ST6GALNAC1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ST6GALNAC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ST6GALNAC1 were set to 35303419 Phenotypes for gene: ST6GALNAC1 were set to Inflammatory bowel disease, MONDO:0005265, ST6GALNAC1-related Review for gene: ST6GALNAC1 was set to RED Added comment: ST6GALNAC1 encodes a protein involved in terminal sialyation of intestinal mucin proteins which act as a barrier, part of innate defenses in the gut. PMID 35303419 reports 3 individuals from 3 families with biallelic missense variants in ST6GALNAC1 presenting with early onset inflammatory bowel disease. However family 1 were consanguineous, family 2 had unaffected sibling with the same variants, 2 of the missense variants reported in affected individuals had 9 homozygotes in gnomAD v4. Loss of function was the proposed mechanism with reduced penetrance proposed by the authors. Functional studies with transfection of a patient variant in mice found no GI abnormalities consistent with IBD however thinning of intestinal mucus was noted. Cell models supported loss of function for the reported missense variants. Further papers are required to establish evidence for this gene disease association. Sources: Literature |
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