Microcephaly
Gene: TTI1EnsemblGeneIds (GRCh38): ENSG00000101407
EnsemblGeneIds (GRCh37): ENSG00000101407
OMIM: 614425, Gene2Phenotype
TTI1 is in 4 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445
Publications
Ee Ming Wong (Victorian Clinical Genetics Services)
- Eleven individuals from nine unrelated families with biallelic variants in TTI1 (10x missense, 2x canonical splice, 2x nonsense and 1x frameshift)
- All present with ID, and most with microcephaly, short stature, and a movement disorder
- Missense mutant constructs transfected into HEK293T cells demonstrated impairment of the TTT complex and of mTOR pathway activity which is improved by treatment with Rapamycin
Sources: LiteratureCreated: 2 Feb 2023, 3:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder, MONDO:0700092, TTI1-related to
Publications
- DOI:https://doi.org/10.1016/j.ajhg.2023.01.006
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445
- OMIM
- 614425
- Clinvar variants
- Variants in TTI1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TTI1 were set to DOI:https://doi.org/10.1016/j.ajhg.2023.01.006
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TTI1 were changed from Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445 to Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TTI1 were changed from Neurodevelopmental disorder, MONDO:0700092, TTI1-related to to Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tti1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tti1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ee Ming Wong (Victorian Clinical Genetics Services)gene: TTI1 was added gene: TTI1 was added to Microcephaly. Sources: Literature Mode of inheritance for gene: TTI1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTI1 were set to DOI:https://doi.org/10.1016/j.ajhg.2023.01.006 Phenotypes for gene: TTI1 were set to Neurodevelopmental disorder, MONDO:0700092, TTI1-related to Review for gene: TTI1 was set to GREEN gene: TTI1 was marked as current diagnostic