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Prepair 1000+

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

Lisa Norbart (Victorian Clinical Genetics Services)

Green List (high evidence)

You-Hoover-Fong syndrome (YHFS) is an autosomal recessive disorder with clinical features of global developmental delay, impaired intellectual development, dysmorphic facial features, microcephaly, abnormal movements, and abnormal auditory and visual function.

Childhood onset reported.
Created: 5 Feb 2025, 11:18 p.m. | Last Modified: 5 Feb 2025, 11:18 p.m.
Panel Version: 1.1456

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
You-Hoover-Fong syndrome, MIM#616954

Publications

Created: 5 Feb 2025, 11:18 p.m.
Last Modified: 5 Feb 2025, 11:18 p.m.
Panel version: 1.1456

Details

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

History Filter Activity

7 Feb 2025, 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).

7 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TELO2 were changed from You-Hoover-Fong syndrome, 616954 (3), Autosomal recessive to You-Hoover-Fong syndrome, MIM#616954

7 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TELO2 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes You-Hoover-Fong syndrome, 616954 (3), Autosomal recessive for gene: TELO2

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TELO2 was added gene: TELO2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TELO2 were set to You-Hoover-Fong syndrome, 616954 (3), Autosomal recessive