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Intellectual disability

Gene: TTI1

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on phenotypes: Relevant phenotype now listed in OMIM (Neurodevelopmental disorder with microcephaly and movement abnormalities, OMIM:620445)
Created: 2 May 2024, 1:20 p.m. | Last Modified: 2 May 2024, 1:20 p.m.
Panel Version: 6.8
Created: 2 May 2024, 1:20 p.m.
Last Modified: 2 May 2024, 1:20 p.m.
Panel version: 6.8

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 3 May 2024, 11:55 a.m. | Last Modified: 3 May 2024, 11:55 a.m.
Panel Version: 6.11
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 14 Jun 2023, 9:32 a.m. | Last Modified: 14 Jun 2023, 9:32 a.m.
Panel Version: 5.189
TTI1 has not previously been associated with a phenotype in OMIM, Gen2Phen or MONDO. At least 2 variants have been reported. PMID: 36724785 reported 15 TTI1 variants as either homozygotes (2 families) or compound heterozygotes (7 families) in cases with a neurodevelopmental disorder with microcephaly. In all cases the parents were heterozygous carriers of the TTI1 variant identified in the affected child. Development delay was observed in all of the families (9/9), moderate to severe intellectual disability was evident in all families where it could be assessed (8/8) and severe microcephaly was present in members of 5/9 families. Supportive functional results were also presented.
Sources: Literature
Created: 14 Jun 2023, 9:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neurodevelopmental disorder with microcephaly

Publications

Created: 14 Jun 2023, 9:24 a.m.

Panel version: 6.11

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with microcephaly and movement abnormalities, OMIM:620445
OMIM
614425
Clinvar variants
Variants in TTI1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 May 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_23_promote_green was removed from gene: TTI1.

3 May 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to TTI1. Source NHS GMS was added to TTI1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

2 May 2024, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TTI1 were changed from neurodevelopmental disorder with microcephaly to Neurodevelopmental disorder with microcephaly and movement abnormalities, OMIM:620445

14 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: tti1 has been classified as Amber List (Moderate Evidence).

14 Jun 2023, Gel status: 1

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_23_promote_green tag was added to gene: TTI1.

14 Jun 2023, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: TTI1 was added gene: TTI1 was added to Intellectual disability - microarray and sequencing. Sources: Literature 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 neurodevelopmental disorder with microcephaly Review for gene: TTI1 was set to GREEN