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Intellectual disability

Gene: TRAPPC6A

Red List (low evidence)

TRAPPC6A (trafficking protein particle complex 6A)
EnsemblGeneIds (GRCh38): ENSG00000007255
EnsemblGeneIds (GRCh37): ENSG00000007255
OMIM: 610396, Gene2Phenotype
TRAPPC6A is in 1 panel

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Comment on list classification: Rated gene as Red until more info to support gene-disease association. Currently only a consanguineous family of Saudi origin reported in literature.
Created: 17 Jul 2018, 10:13 a.m.
Mohamoud et al. (2018) PMID:29391579 describe a consanguineous family of Saudi origin with varying complex features including intellectual disability, speech delay, facial dysmorphism and polydactyly. They identified homozygous mutations in five candidate genes (RSPH6A, ANKK1, AMOTL1, ALKBH8, TRAPPC6A) and looked for differences in expression levels of each protein in HEK293 cells, expressing either the wild-type or mutant full-length cDNA construct. Unexpectedly, wild-type TRAPPC6A appeared to be unstable, but addition of the proteasome inhibitor MG132 stabilised its expression. Mutations have previously been reported in several members of the TRAPP complex of proteins, including TRAPPC2, TRAPPC9 and TRAPPC11, resulting in disorders involving skeletal abnormalities, intellectual disability, speech impairment and developmental delay. TRAPPC6A joins a growing list of proteins belonging to the TRAPP complex, implicated in clinical syndromes with neurodevelopmental abnormalities.
Created: 17 Jul 2018, 10:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; dysmorphic features

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Intellectual disability
  • dysmorphic features
OMIM
610396
Clinvar variants
Variants in TRAPPC6A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: trappc6a has been classified as Red List (Low Evidence).

17 Jul 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

TRAPPC6A was added to Intellectual disability panel. Sources: Literature

17 Jul 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

TRAPPC6A was created by Louise Daugherty