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  2. Congenital Disorders of Glycosylation
  3. TRAPPC9
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Congenital Disorders of Glycosylation

Gene: TRAPPC9

Green List (high evidence)
TRAPPC9 (trafficking protein particle complex 9)
EnsemblGeneIds (GRCh38): ENSG00000167632
EnsemblGeneIds (GRCh37): ENSG00000167632
OMIM: 611966, Gene2Phenotype
TRAPPC9 is in 10 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID 35042660: authors present evidence this is a CDG, likely represents a spectrum with previous reported individuals pressing with ID.
Created: 5 May 2022, 9:59 a.m. | Last Modified: 5 May 2022, 9:59 a.m.
Panel Version: 1.28

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder, autosomal recessive 13, MIM# 613192

Created: 5 May 2022, 9:59 a.m.
Last Modified: 5 May 2022, 9:59 a.m.
Panel version: 1.28

Elena Savva (Victorian Clinical Genetics Services)

I don't know

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
Created: 5 May 2022, 1:46 a.m. | Last Modified: 5 May 2022, 1:48 a.m.
Panel Version: 1.26

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 5 May 2022, 1:46 a.m.
Last Modified: 5 May 2022, 1:48 a.m.
Panel version: 1.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 13 MIM#613192
OMIM
611966
Clinvar variants
Variants in TRAPPC9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 May 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: trappc9 has been classified as Green List (High Evidence).

5 May 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: trappc9 has been classified as Green List (High Evidence).

5 May 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: trappc9 has been classified as Green List (High Evidence).

5 May 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: trappc9 has been classified as Green List (High Evidence).

5 May 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: trappc9 has been classified as Green List (High Evidence).

5 May 2022, Gel status: 1

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: TRAPPC9 were changed from Intellectual developmental disorder, autosomal recessive 13 MIM#613192 to Intellectual developmental disorder, autosomal recessive 13 MIM#613192

5 May 2022, Gel status: 1

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: TRAPPC9 were changed from to Intellectual developmental disorder, autosomal recessive 13 MIM#613192

5 May 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications

Elena Savva (Victorian Clinical Genetics Services)

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