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Intellectual disability syndromic and non-syndromic

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)

Note multiple intragenic CNVs reported for this gene.
Created: 15 Oct 2020, 5:43 a.m. | Last Modified: 15 Oct 2020, 5:43 a.m.
Panel Version: 0.3068

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 13, MIM# 613192

Publications

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 30853973; Reports 2 affected siblings cHet for 1 frameshift + 1 splice. Also provides a summary of previously reported families in supplementary data (n=11, excluding large deletions and duplications of the locus).
Created: 4 Feb 2020, 11:29 p.m. | Last Modified: 4 Feb 2020, 11:29 p.m.
Panel Version: 0.1980

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability, autosomal recessive 13 (MIM# 613192)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Intellectual disability, autosomal recessive 13 (MIM# 613192)
Tags
SV/CNV
OMIM
611966
Clinvar variants
Variants in TRAPPC9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Oct 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: TRAPPC9.

15 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TRAPPC9 were set to 30853973

7 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Feb 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TRAPPC9 were changed from to Intellectual disability, autosomal recessive 13 (MIM# 613192)

7 Feb 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TRAPPC9 were set to

7 Feb 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TRAPPC9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TRAPPC9 was added gene: TRAPPC9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRAPPC9 was set to Unknown