Ataxia - paediatric
Gene: TTI1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445
Publications
- 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
- The movement disorder described in six individuals (6/11) included ataxia, either in isolation or with chorea.
- Missense mutant constructs transfected into HEK293T cells demonstrated impairment of the TTT complex and of mTOR pathway activity which is improved by treatment with RapamycinCreated: 2 Feb 2023, 3:32 a.m. | Last Modified: 2 Feb 2023, 3:32 a.m.
Panel Version: 1.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder, MONDO:0700092, TTI1-related to
Publications
Variants in this GENE are reported as part of current diagnostic practice
No reported association with ataxia.
Sources: Expert listCreated: 17 Jan 2020, 1:10 a.m.
Mode of inheritance
Unknown
Comment on list classification: No publications identified in the context of ataxiaCreated: 20 Nov 2019, 10:25 p.m. | Last Modified: 20 Nov 2019, 10:25 p.m.
Panel Version: 0.4
Comment on list classification: No publications identified in the context of ataxiaCreated: 20 Nov 2019, 10:19 p.m. | Last Modified: 20 Nov 2019, 10:19 p.m.
Panel Version: 0.3
Comment on list classification: Reviewed with Zornitza StarkCreated: 20 Nov 2019, 6:50 a.m. | Last Modified: 20 Nov 2019, 6:50 a.m.
Panel Version: 0.10
Two unrelated consanguineous families previously described with homozygous missense variants, both in large cohort papers with multiple candidate genes in inbred population. No functional evidence provided, segregation uninformative.Created: 20 Nov 2019, 6:49 a.m. | Last Modified: 20 Nov 2019, 6:49 a.m.
Panel Version: 0.9
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Phenotypes for gene: TTI1 were changed from Neurodevelopmental disorder, MONDO:0700092, TTI1-related to Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445
Publications for gene: TTI1 were set to
Phenotypes for gene: TTI1 were changed from to Neurodevelopmental disorder, MONDO:0700092, TTI1-related
Mode of inheritance for gene: TTI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: tti1 has been classified as Green List (High Evidence).
Gene: tti1 has been classified as Red List (Low Evidence).
gene: TTI1 was added gene: TTI1 was added to Ataxia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: TTI1 was set to Unknown Review for gene: TTI1 was set to RED