Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: TELO2

Green List (high evidence)

TELO2 (telomere maintenance 2)
EnsemblGeneIds (GRCh38): ENSG00000100726
EnsemblGeneIds (GRCh37): ENSG00000100726
OMIM: 611140, Gene2Phenotype
TELO2 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Five unrelated families reported.
Sources: Expert list
Created: 1 Mar 2020, 12:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
You-Hoover-Fong syndrome, MIM#616954; Syndromic intellectual disability

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • You-Hoover-Fong syndrome, MIM#616954
  • Syndromic intellectual disability
OMIM
611140
Clinvar variants
Variants in TELO2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: telo2 has been classified as Green List (High Evidence).

1 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: telo2 has been classified as Green List (High Evidence).

1 Mar 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TELO2 was added gene: TELO2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TELO2 were set to 27132593; 28944240 Phenotypes for gene: TELO2 were set to You-Hoover-Fong syndrome, MIM#616954; Syndromic intellectual disability Review for gene: TELO2 was set to GREEN