Genomics England
GMS Panels
Panels
Genes and Entities

TELO2

telomere maintenance 2
OMIM: 611140
PanelMode of inheritanceDetails
4 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.102
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
YOU-HOOVER-FONG SYNDROME, YHFS
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TELO2 Syndromic Intellectual Disability Disorder
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.122
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
You-Hoover-Fong syndrome, OMIM:616954, TELO2-related intellectual disability-neurodevelopmental disorder, MONDO:0014848
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
You-Hoover-Fong syndrome, 616954, syndromic intellectual disability