Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Ataxia - paediatric

Gene: TTI1

Green List (high evidence)

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

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

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

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

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

History Filter Activity

25 Jul 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TTI1 were changed from Neurodevelopmental disorder, MONDO:0700092, TTI1-related to Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445

25 Jul 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TTI1 were set to

2 Feb 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TTI1 were changed from to Neurodevelopmental disorder, MONDO:0700092, TTI1-related

2 Feb 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TTI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

2 Feb 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tti1 has been classified as Green List (High Evidence).

17 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tti1 has been classified as Red List (Low Evidence).

17 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

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