DDG2P
Gene: TTI1

TTI1 (TELO2 interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000101407
EnsemblGeneIds (GRCh37): ENSG00000101407
OMIM: 614425, Gene2Phenotype
TTI1 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease TTI1-related microcephaly, intellectual disability and ataxia is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 36724785).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.

Panel Version: 4.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
TTI1-related microcephaly, intellectual disability and ataxia

Publications

36724785

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 4.10

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

TTI1-related microcephaly, intellectual disability and ataxia

OMIM

614425

Clinvar variants

Variants in TTI1

Penetrance

None

Publications

36724785

Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: TTI1 was added gene: TTI1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype 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 TTI1-related microcephaly, intellectual disability and ataxia

DDG2P Gene: TTI1