Severe microcephaly
Gene: TRIP13

TRIP13 (thyroid hormone receptor interactor 13)
EnsemblGeneIds (GRCh38): ENSG00000071539
EnsemblGeneIds (GRCh37): ENSG00000071539
OMIM: 604507, Gene2Phenotype
TRIP13 is in 7 panels

1 review

Ivone Leong (Genomics England Curator)

I don't know

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.
Sources: Literature
Created: 5 May 2021, 12:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mosaic variegated aneuploidy syndrome 3, OMIM:617598

Publications

28553959

Created: 5 May 2021, 12:27 p.m.

Panel version: 2.125

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Literature

Phenotypes

Mosaic variegated aneuploidy syndrome 3, OMIM:617598

Tags

watchlist

OMIM

604507

Clinvar variants

Variants in TRIP13

Penetrance

None

Publications

28553959

Panels with this gene

History Filter Activity

5 May 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: trip13 has been classified as Amber List (Moderate Evidence).

5 May 2021, Gel status: 1

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