Severe microcephalyGene: TRIP13
This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. PMID: 28553959 describes 6 probands with variants in this gene. 3/6 probands had microcephaly (2 of these probands have the same homozygous variant and may be due to a founder effect). Therefore, there is currently not enough evidence to support a gene-disease association. This gene has been rated Amber for now.
Created: 5 May 2021, 12:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mosaic variegated aneuploidy syndrome 3, OMIM:617598
Gene: trip13 has been classified as Amber List (Moderate Evidence).
gene: TRIP13 was added gene: TRIP13 was added to Severe microcephaly. Sources: Literature watchlist tags were added to gene: TRIP13. Mode of inheritance for gene: TRIP13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIP13 were set to 28553959 Phenotypes for gene: TRIP13 were set to Mosaic variegated aneuploidy syndrome 3, OMIM:617598 Review for gene: TRIP13 was set to AMBER