ATRX

ATRX, chromatin remodeler
OMIM: 300032, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels
Red ATRX in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.58

review Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • SGA, which is sometimes called intrauterine growth restriction (IUGR),
Green ATRX in Gastrointestinal neuromuscular disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.23

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Alpha-thalassemia/mental retardation syndrome 301040
Red ATRX in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Amber ATRX in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.116

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Adult
  • Alpha-thalassemia myelodysplasia syndrome, somatic 300448
  • Alpha-thalassemia/mental retardation syndrome 301040 XLD
Tags
  • somatic
Red ATRX in Rare anaemia


Version 3.7
Latest signed off version: v3.0 (22 Mar 2023)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • NHS GMS
  • London South GLH
Phenotypes
  • 301040 Alpha-thalassemia/mental retardation syndrome
Green ATRX in Disorders of sex development

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mental retardation-hypotonic facies syndrome, X-linked 309580
Green ATRX in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.65
Latest signed off version: v4.0 (22 Mar 2023)

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • NHS GMS
  • Expert Review Green
  • Other
Phenotypes
  • Mental retardation-hypotonic facies syndrome, X-linked, 309580 (Microcephaly)
  • Alpha-thalassemia/mental retardation syndrome, 301040 (Microcephaly)
Green ATRX in Fetal anomalies


Version 3.137
Latest signed off version: v3.0 (22 Mar 2023)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1
  • ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME X-LINKED NON-DELETION TYPE
No list ATRX in Osteogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

review Not set
Sources
  • Expert Review Removed
  • Emory Genetics Laboratory
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age
Tags
  • curated_removed
Green ATRX in DDG2P


Version 3.79
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1 309580
    • ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME X-LINKED NON-DELETION TYPE 301040
    Red ATRX in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.106
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert Review Red
    Phenotypes
    • MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1
    • MRXHF1
    Red ATRX in Growth failure in early childhood


    Version 3.8
    Latest signed off version: v3.0 (22 Mar 2023)

    review Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • SGA, which is sometimes called intrauterine growth restriction (IUGR),
    Green ATRX in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.175
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    • UKGTN
    • Expert
    Phenotypes
    • Alpha-thalassemia/mental retardation syndrome, 301040
    • Mental retardation-hypotonic facies syndrome, X-linked, 309580
    Green ATRX in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.480
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Alpha-thalassemia/mental retardation syndrome, 301040
    • Mental retardation-hypotonic facies syndrome, X-linked, 309580
    Green ATRX in Severe Paediatric Disorders


    Version 1.182

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Alpha-thalassemia/mental retardation syndrome, 301040
    • Mental retardation-hypotonic facies syndrome, X-linked, 309580