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| Intellectual disability syndromic and non-syndromic v0.5162 | FICD | Elena Savva Classified gene: FICD as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5162 | FICD | Elena Savva Gene: ficd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5161 | FICD | Elena Savva Classified gene: FICD as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5161 | FICD | Elena Savva Gene: ficd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5161 | FICD | Elena Savva Classified gene: FICD as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5161 | FICD | Elena Savva Gene: ficd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5160 | FICD | Elena Savva Marked gene: FICD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5160 | FICD | Elena Savva Gene: ficd has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5160 | FICD |
Elena Savva gene: FICD was added gene: FICD was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: FICD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FICD were set to 36704923 Phenotypes for gene: FICD were set to Neurodevelopmental disorder, FICD-related (MONDO#0700092) Review for gene: FICD was set to AMBER Added comment: PMID: 36704923: - five individuals (3 families) w/ infancy onset diabetes mellitus (5/5) and severe neurodevelopmental delay (4/5) - all homozygous for p.R371S - variant expression in E. coli showed loss of affinity, deregulates BiP-AMP and affects secretion Sources: Literature |
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