Severe microcephaly
Gene: TTI1
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 14 Jun 2023, 9:32 a.m. | Last Modified: 14 Jun 2023, 9:32 a.m.
Panel Version: 4.27
TTI1 has not previously been associated with a phenotype in OMIM, Gen2Phen or MONDO. At least 2 variants have been reported. PMID: 36724785 reported 15 TTI1 variants as either homozygotes (2 families) or compound heterozygotes (7 families) in cases with a neurodevelopmental disorder with microcephaly. In all cases the parents were heterozygous carriers of the TTI1 variant identified in the affected child. Development delay was observed in all of the families (9/9), moderate to severe intellectual disability was evident in all families where it could be assessed (8/8) and severe microcephaly was present in members of 5/9 families. Supportive functional results were also presented.
Sources: LiteratureCreated: 14 Jun 2023, 9:24 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
neurodevelopmental disorder with microcephaly
Publications
Gene: tti1 has been classified as Amber List (Moderate Evidence).
Tag Q3_23_promote_green tag was added to gene: TTI1.
gene: TTI1 was added gene: TTI1 was added to Severe microcephaly. Sources: Literature Mode of inheritance for gene: TTI1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTI1 were set to 36724785 Phenotypes for gene: TTI1 were set to neurodevelopmental disorder with microcephaly Review for gene: TTI1 was set to GREEN