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Intellectual disability

Gene: TRAPPC10

Red List (low evidence)

TRAPPC10 (trafficking protein particle complex 10)
EnsemblGeneIds (GRCh38): ENSG00000160218
EnsemblGeneIds (GRCh37): ENSG00000160218
OMIM: 602103, Gene2Phenotype
TRAPPC10 is in 2 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Aleš Maver (Clinical Institute of Medical Genetics). This gene is not associated with a phenotype in OMIM, but is possibly associated with a disease in Gene2Phenotype. The affected individuals in PMID:30167849 (2 individuals from the same family) had severe ID. As I do not have access to the ESHG2021 talk, this gene has been given a Red rating until further evidence is available.
Created: 13 Sep 2021, 3:31 p.m. | Last Modified: 13 Sep 2021, 3:31 p.m.
Panel Version: 2.223

Aleš Maver (Clinical Institute of Medical Genetics)

Red List (low evidence)

This gene was originally reported in association with microcephalic NDD in PMID:30167849 (biallelic missense variant) and was replicated in a large family consanguineous family with a biallelic frameshift variant - reported at the ESHG2021 conference, talk C16.4 by Rawlins).
Sources: Other
Created: 30 Aug 2021, 9:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Expert Review Red
Phenotypes
  • Intellectual disability, MONDO:0001071
OMIM
602103
Clinvar variants
Variants in TRAPPC10
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

13 Sep 2021, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TRAPPC10 were changed from microcephaly (disease), MONDO:0001149 to Intellectual disability, MONDO:0001071

13 Sep 2021, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: TRAPPC10 was added gene: TRAPPC10 was added to Intellectual disability. Sources: Expert Review Red,Other Mode of inheritance for gene: TRAPPC10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC10 were set to 30167849 Phenotypes for gene: TRAPPC10 were set to microcephaly (disease), MONDO:0001149 Penetrance for gene: TRAPPC10 were set to Complete