Severe microcephalyGene: TRAPPC10
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
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).
Created: 30 Aug 2021, 9:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: trappc10 has been classified as Red List (Low Evidence).
Phenotypes for gene: TRAPPC10 were changed from to microcephaly (disease), MONDO:0001149
Publications for gene: TRAPPC10 were set to PMID: 30167849
gene: TRAPPC10 was added gene: TRAPPC10 was added to Severe microcephaly. Sources: Other Mode of inheritance for gene: TRAPPC10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC10 were set to PMID: 30167849 Penetrance for gene: TRAPPC10 were set to Complete Review for gene: TRAPPC10 was set to RED