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| Congenital Disorders of Glycosylation v1.28 | TRAPPC9 | Zornitza Stark reviewed gene: TRAPPC9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal recessive 13, MIM# 613192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.28 | TRAPPC9 | Alison Yeung Classified gene: TRAPPC9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.28 | TRAPPC9 | Alison Yeung Gene: trappc9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.27 | TRAPPC9 | Alison Yeung Classified gene: TRAPPC9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.27 | TRAPPC9 | Alison Yeung Gene: trappc9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.27 | TRAPPC9 | Alison Yeung Marked gene: TRAPPC9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.27 | TRAPPC9 | Alison Yeung Gene: trappc9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.27 | TRAPPC9 | Alison Yeung Classified gene: TRAPPC9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.27 | TRAPPC9 | Alison Yeung Gene: trappc9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.27 | TRAPPC9 | Alison Yeung Classified gene: TRAPPC9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.27 | TRAPPC9 | Alison Yeung Gene: trappc9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.26 | TRAPPC9 | Elena Savva Phenotypes for gene: TRAPPC9 were changed from Intellectual developmental disorder, autosomal recessive 13 MIM#613192 to Intellectual developmental disorder, autosomal recessive 13 MIM#613192 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.26 | TRAPPC9 |
Elena Savva changed review comment from: PMID: 35042660 - 3 individuals with biallelic missense variants. Patients had ID, dysmorphism and abnormal glycosylation. Western blot demonstrated reduced TRAPPC9 protein expression, RT-PCR showed reduced gene expression with complementation assays rescuing the phenotype but only shown for 2/3 missense found. No functional studies performed on the 3rd missense variant. Sources: Literature; to: PMID: 35042660 - 3 individuals with biallelic missense variants. Patients had ID, dysmorphism and abnormal glycosylation. Western blot demonstrated reduced TRAPPC9 protein expression, RT-PCR showed reduced gene expression with complementation assays rescuing the phenotype but only shown for 2/3 missense found. No functional studies performed on the 3rd missense variant. Sources: Literature |
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| Congenital Disorders of Glycosylation v1.26 | TRAPPC9 | Elena Savva Phenotypes for gene: TRAPPC9 were changed from to Intellectual developmental disorder, autosomal recessive 13 MIM#613192 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.25 | TRAPPC9 |
Elena Savva gene: TRAPPC9 was added gene: TRAPPC9 was added to Congenital Disorders of Glycosylation. Sources: Literature Mode of inheritance for gene: TRAPPC9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC9 were set to PMID: 35042660 Review for gene: TRAPPC9 was set to AMBER Added comment: PMID: 35042660 - 3 individuals with biallelic missense variants. Patients had ID, dysmorphism and abnormal glycosylation. Western blot demonstrated reduced TRAPPC9 protein expression, RT-PCR showed reduced gene expression with complementation assays rescuing the phenotype but only shown for 2/3 missense found. No functional studies performed on the 3rd missense variant. Sources: Literature |
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