Ataxia - paediatric
Gene: TTI1

TTI1 (TELO2 interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000101407
EnsemblGeneIds (GRCh37): ENSG00000101407
OMIM: 614425, Gene2Phenotype
TTI1 is in 4 panels

4 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445

Publications

36724785

Created: 25 Jul 2023, 6:47 a.m.
Last Modified: 25 Jul 2023, 6:47 a.m.
Panel version: 1.7

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

- 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 Rapamycin
Created: 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

DOI:https://doi.org/10.1016/j.ajhg.2023.01.006

Variants in this GENE are reported as part of current diagnostic practice

Created: 2 Feb 2023, 3:32 a.m.
Last Modified: 2 Feb 2023, 3:32 a.m.
Panel version: 1.3

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

No reported association with ataxia.
Sources: Expert list
Created: 17 Jan 2020, 1:10 a.m.

Mode of inheritance
Unknown

Created: 17 Jan 2020, 1:10 a.m.

Panel version: 0.45

Sebastian Lunke (Victorian Clinical Genetics Services)

I don't know

Comment on list classification: No publications identified in the context of ataxia
Created: 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 ataxia
Created: 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 Stark
Created: 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

Created: 20 Nov 2019, 6:49 a.m.
Last Modified: 20 Nov 2019, 6:49 a.m.
Panel version: Imported from Ataxia_Paediatric panel version Imported from Ataxia_VCGS panel version Imported from Intellectual Disability syndromic and nonsyndromic_VCGS panel version 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445

OMIM

614425

Clinvar variants

Variants in TTI1

Penetrance

None

Publications

Panels with this gene