Microcephaly
Gene: TRIP13
Autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay.
6 unrelated families reported, but 5 shared the same homozygous stop variant, p.Arg354X, suggestive of founder effect. Microcephaly present in 3/6.
Supportive functional data.Created: 4 Sep 2020, 2:54 a.m. | Last Modified: 30 Nov 2021, 4:46 a.m.
Panel Version: 1.71
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mosaic variegated aneuploidy syndrome 3, MIM# 617598
Publications
Gene: trip13 has been classified as Green List (High Evidence).
Gene: trip13 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: TRIP13 were changed from to Mosaic variegated aneuploidy syndrome 3, MIM# 617598
Publications for gene: TRIP13 were set to
Tag founder tag was added to gene: TRIP13.
Mode of inheritance for gene: TRIP13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: trip13 has been classified as Amber List (Moderate Evidence).
gene: TRIP13 was added gene: TRIP13 was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TRIP13 was set to Unknown