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Intellectual disability

Gene: TRAPPC11

Amber List (moderate evidence)

TRAPPC11 (trafficking protein particle complex 11)
EnsemblGeneIds (GRCh38): ENSG00000168538
EnsemblGeneIds (GRCh37): ENSG00000168538
OMIM: 614138, Gene2Phenotype
TRAPPC11 is in 8 panels

4 reviews

Caroline Wright (Sanger)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S

Publications

Rebecca Foulger (Genomics England curator)

I don't know

Additional publication since gene was last reviewed: PMID:27707803 (2017) identified a homozygous splice mutation in TRAPPC11 in 4 patients from 2 unrelated consanguineous Turkish families suffering with myopathy and intellectual disability. In 2013, PMID:23830518 reported a homozygous TRAPPC11 variant (c.1287+5G>A, p.Ala372_Ser429del) in 5 Hutterite individuals presenting with myopathy, infantile hyperkinetic movements, ataxia, and ID. Rated as Amber after clinical input from Helen Brittain because ID is not a universal phenotype in all cases, and can be mild.
Created: 31 Oct 2017, 9:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Lu Raymond (university of cambridge )

I don't know

Richard Scott (Genomics England Curator)

Comment on list classification: Not and ID gene
Created: 8 Feb 2016, 1:47 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Red
Phenotypes
  • myopathy and intellectual disability
OMIM
614138
Clinvar variants
Variants in TRAPPC11
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 2

Added New Source, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Amber was added to TRAPPC11. Panel: Intellectual disability Publications for gene TRAPPC11 was set to ['23830518', '27707803']

8 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

8 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TRAPPC11 was added to Intellectual disabilitypanel. Sources: Expert Review Amber

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TRAPPC11 was created by ellenmcdonagh