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Fetal anomalies

Gene: TTI2

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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Samantha Doyle (The National Maternity Hospital)

Red List (low evidence)

PMID:31737043 - no prenatal findings, PMID:32061250 - no prenatal findings. There is not enough evidence of a prenatal phenotype. Red
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 39, OMIM:615541; Microcephaly

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for AUTOSOMAL RECESSIVE MENTAL RETARDATION
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as All missense/in frame.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Mental retardation, autosomal recessive 39, OMIM:615541
  • Microcephaly
OMIM
614426
Clinvar variants
Variants in TTI2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Aug 2024, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

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

29 Aug 2024, Gel status: 1

Added New Source, Added New Source, Set Phenotypes, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to TTI2. Source Expert Review Red was added to TTI2. Added phenotypes Mental retardation, autosomal recessive 39, OMIM:615541; Microcephaly for gene: TTI2 Publications for gene: TTI2 were updated from to 32061250; 31737043; 23956177 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: TTI2 was added gene: TTI2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TTI2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTI2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION