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Intellectual disability

Gene: TTI2

Green List (high evidence)

TTI2 (TELO2 interacting protein 2)
EnsemblGeneIds (GRCh38): ENSG00000129696
EnsemblGeneIds (GRCh37): ENSG00000129696
OMIM: 614426, Gene2Phenotype
TTI2 is in 3 panels

3 reviews

Rebecca Foulger (Genomics England curator)

In 3 siblings (two female and one male) born of first-cousin Algerian parents, Langouet et al. (2013, PMID:23956177) identified a homozygous c.1307T-A transversion in the TTI2 gene (I436N). All patients had severe cognitive impairment with severe speech delay and behavioural disturbances, but no seizures were reported.
Created: 14 May 2019, 3:26 p.m.
Najmabadi et al. (2011, PMID:21937992) studied 136 consanguineous families with autosomal-recessive intellectual disability. In 4 siblings, they identified a homozygous G-to-A transition in the TTI2 gene (P367L). No additional clinical details were provided.
Created: 14 May 2019, 3:22 p.m.

Caroline Wright (Sanger)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION

Publications

Lu Raymond (university of cambridge )

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
  • Mental retardation, autosomal recessive 39, 615541
OMIM
614426
Clinvar variants
Variants in TTI2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 May 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: TTI2 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to AUTOSOMAL RECESSIVE MENTAL RETARDATION; Mental retardation, autosomal recessive 39, 615541

14 May 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: TTI2 were set to 21937992

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TTI2 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TTI2 was added to Intellectual disabilitypanel. Sources: Expert Review Green