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Fetal anomalies

Gene: TELO2

Amber List (moderate evidence)

TELO2 (telomere maintenance 2)
EnsemblGeneIds (GRCh38): ENSG00000100726
EnsemblGeneIds (GRCh37): ENSG00000100726
OMIM: 611140, Gene2Phenotype
TELO2 is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for TELO2 Syndromic Intellectual Disability Disorder
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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • TELO2 Syndromic Intellectual Disability Disorder
OMIM
611140
Clinvar variants
Variants in TELO2
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: TELO2 was added gene: TELO2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TELO2 were set to TELO2 Syndromic Intellectual Disability Disorder