TELO2:Ensemblv115

telomere maintenance 2
OMIM: 611140, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green TELO2 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
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 1.0

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

Green TELO2 in Fetal anomalies


Version 2.0

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

Green TELO2 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • You-Hoover-Fong syndrome, MIM#616954

Green TELO2 in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • You-Hoover-Fong syndrome, MIM#616954