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Mackenzie's Mission_Reproductive Carrier Screening

Gene: TELO2

Green List (high evidence)

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

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • You-Hoover-Fong syndrome, 616954 (3), Autosomal recessive
OMIM
611140
Clinvar variants
Variants in TELO2
Penetrance
None
Panels with this gene

History Filter Activity

19 Apr 2020, 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 Mackenzie's Mission_Reproductive Carrier Screening. 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