TELO2

telomere maintenance 2
OMIM: 611140, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green TELO2 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • You-Hoover-Fong syndrome, MIM#616954
  • Syndromic intellectual disability

Green TELO2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • You-Hoover-Fong syndrome, MIM#616954
  • Syndromic intellectual disability

Green TELO2 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • You-Hoover-Fong syndrome, 616954 (3), Autosomal recessive

Green TELO2 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.252

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • YHFS
  • YOU-HOOVER-FONG SYNDROME

Green TELO2 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • TELO2-related intellectual disability-neurodevelopmental disorder, MONDO:0014848
  • You-Hoover-Fong syndrome, OMIM:616954

Green TELO2 in Prepair 1000+


Level 2: Screening
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • You-Hoover-Fong syndrome, 616954 (3), Autosomal recessive

Green TELO2 in Prepair 500+


Level 2: Screening
Version 1.1

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • You-Hoover-Fong syndrome, 616954 (3), Autosomal recessive