PanelApp (test)
  1. Genes and Genomic Entities
  2. ATM:Ensemblv90

ATM:Ensemblv90

ATM serine/threonine kinase
OMIM: 607585, ClinGen, DECIPHER

39 panels

Panel Reviews Mode of inheritance Details
39 panels

Green ATM in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.405

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ataxia-telangiectasia, MIM#208900

Green ATM in Chromosome Breakage Disorders


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.24

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ataxia-telangiectasia, MIM# 208900

Green ATM in Mendeliome


Version 1.3802

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Ataxia-telangiectasia, MIM# 208900

Green ATM in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 0.132

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green ATM in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 0.601

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green ATM in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.138

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Ataxia-telangiectasia MIM# 208900
    • Progressive T cell decrease, poor T-cell proliferation to mitogens
    • low IgA, IgE and IgG
    • increased IgM monomers
    • antibodies variably decreased
    • Ataxia
    • telangiectasia especially of sclerae
    • pulmonary infections
    • lymphoreticular and other malignancies
    • increased alpha fetoprotein
    • increased radiosensitivity, chromosomal instability and chromosomal translocations

    Green ATM in Homologous_recombination_deficiency_WTS_UMCCR


    Level 2: Cancer
    Version 0.45

    		0 reviews Unknown
    Sources
    • Expert list
    • Expert Review Green
    Tags
    • umccr

    Amber ATM in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.508

    		1 review Unknown
    Sources
    • Expert Review Amber
    • Genetic Health Queensland
    Phenotypes
    • Ataxia-telangiectasia, MIM#208900

    Green ATM in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.62

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Royal Melbourne Hospital
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Ataxia-telangiectasia, 607585
    • Ataxia-Telangiectasia

    Green ATM in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.162

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Ataxia-telangiectasia MIM#208900

    Green ATM in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.290

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Ataxia telangiectasia
    • Dystonia

    Green ATM in Vascular Malformations_Germline


    Level 2: Cardiovascular disorders
    Version 1.12

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ataxia-telangiectasia, MIM# 208900

    Red ATM in CGC_86


    Version 0.3

    		0 reviews Other
    Sources
    • CGC_86
    Phenotypes
    • Ataxia-telangiectasia syndrome

    Red ATM in NCGC


    Version 0.3

    		0 reviews Other
    Sources
    • NCGC
    Phenotypes
    • Ataxia-telangiectasia syndrome

    Red ATM in TCGA_PANCAN_2018


    Version 0.3

    		0 reviews Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • Ataxia-telangiectasia syndrome

    Amber ATM in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.45

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • Ataxia-telangiectasia, MIM#208900
    • Childhood-onset progressive ataxia, conjunctival telangiectasia, sensory axonal neuropathy, chorea and dystonia, immunodeficiency and increased risk of malignancy, elevated α-fetoprotein
    • Ataxia-telangiectasia syndrome

    Green ATM in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.111

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Ataxia-telangiectasia, 208900 (3)

    Green ATM in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Ataxia-telangiectasia

    Green ATM in Incidentalome_PREGEN_DRAFT


    Version 0.43

    		1 review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Green ATM in Growth failure


    Version 1.87

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Ataxia-telangiectasia, MIM# 208900

    Red ATM in Fetal anomalies


    Version 1.482

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Ataxia-telangiectasia, MIM# 208900

    Green ATM in Prepair 1000+


    Level 2: Screening
    Version 2.15

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Ataxia-telangiectasia, 208900 (3)

    Red ATM in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Ataxia-telangiectasia, MIM# 208900

    Green ATM in Prepair 500+


    Level 2: Screening
    Version 2.0

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Ataxia-telangiectasia, MIM# 208900

    Green ATM in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Ataxia-telangiectasia, MIM#208900

    Green ATM in Chromosome Breakage Disorders


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Ataxia-telangiectasia, MIM# 208900

    Green ATM in Cancer Predisposition_Paediatric


    Level 2: Cancer
    Version 1.0

    		0 reviews Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green ATM in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    		0 reviews Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green ATM in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Expert Review Green
    Phenotypes
    • Ataxia-telangiectasia MIM# 208900
    • Progressive T cell decrease, poor T-cell proliferation to mitogens
    • low IgA, IgE and IgG
    • increased IgM monomers
    • antibodies variably decreased
    • Ataxia
    • telangiectasia especially of sclerae
    • pulmonary infections
    • lymphoreticular and other malignancies
    • increased alpha fetoprotein
    • increased radiosensitivity, chromosomal instability and chromosomal translocations

    Green ATM in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Royal Melbourne Hospital
    • Expert list
    • Expert Review Green
    Phenotypes
    • Ataxia-telangiectasia, 607585
    • Ataxia-Telangiectasia

    Green ATM in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Ataxia telangiectasia
    • Dystonia

    Green ATM in Vascular Malformations_Germline


    Level 2: Cardiovascular disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Ataxia-telangiectasia, MIM# 208900

    Red ATM in CGC_86


    Version 1.0

    		0 reviews Other
    Sources
    • CGC_86
    Phenotypes
    • Ataxia-telangiectasia syndrome

    Red ATM in TCGA_PANCAN_2018


    Version 1.0

    		0 reviews Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • Ataxia-telangiectasia syndrome

    Amber ATM in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Amber
    Phenotypes
    • Ataxia-telangiectasia, MIM#208900
    • Childhood-onset progressive ataxia, conjunctival telangiectasia, sensory axonal neuropathy, chorea and dystonia, immunodeficiency and increased risk of malignancy, elevated α-fetoprotein
    • Ataxia-telangiectasia syndrome

    Green ATM 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
    • Ataxia-telangiectasia, 208900 (3)

    Green ATM in Growth failure


    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review
    • Expert Review Green
    Phenotypes
    • Ataxia-telangiectasia, MIM# 208900

    Green ATM in Prepair 1000+


    Level 2: Screening
    Version 3.0

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Mackenzie's Mission
    • Expert Review Green
    Phenotypes
    • Ataxia-telangiectasia, 208900 (3)

    Green ATM in Prepair 500+


    Level 2: Screening
    Version 3.0

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Mackenzie's Mission
    • Expert Review Green
    Phenotypes
    • Ataxia-telangiectasia, MIM# 208900