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| Congenital Diarrhoea v1.14 | EZR | Zornitza Stark Marked gene: EZR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Diarrhoea v1.14 | EZR | Zornitza Stark Gene: ezr has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Diarrhoea v1.14 | EZR |
Zornitza Stark gene: EZR was added gene: EZR was added to Congenital Diarrhoea. Sources: Literature Mode of inheritance for gene: EZR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EZR were set to 40137958 Phenotypes for gene: EZR were set to Congenital enteropathy, MONDO:0009173, EZR-related Review for gene: EZR was set to RED Added comment: Homozygous LoF variant c. 356dup (p. Glu120*) - present in gnomAD v4.1 (rare enough for AR condition) Infant from consanguineous parents with intractable diarrhea and failure to thrive. A supportive functional assay showing the variant is predicted to result in NMD was conducted. No other reports of other variants in this gene to support this gene disease association as of yet. Sources: Literature |
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