PanelApp
  1. Genes and Genomic Entities
  2. TELO2

TELO2

telomere maintenance 2
OMIM: 611140, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green TELO2 in Cataract


Level 2: Ophthalmological disorders
Version 2.0

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

Green TELO2 in Mendeliome


Version 2.577

1 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 2.145

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

Red TELO2 in Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 2.157

Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • TELO2-related intellectual disability-neurodevelopmental disorder, MONDO:0014848

    Green TELO2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 1.0

    		0 reviews 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 1.25

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

    Green TELO2 in Fetal anomalies


    Version 2.81

    		1 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 3.0

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