ATM

ATM serine/threonine kinase
OMIM: 607585, Gene2Phenotype

29 panels

Panel Reviews Mode of inheritance Details
29 panels

Green ATM in Familial breast cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.13

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ataxia-telangiectasia, 208900
  • Lymphoma, B-cell non-Hodgkin, somatic
  • {Breast cancer, susceptibility to}, 114480
  • Lymphoma, mantle cell
  • T-cell prolymphocytic leukemia, somatic
  • Breast and Ovarian Cancer

Green ATM in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.1

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Curated sources
Phenotypes
  • Class: BM failure syndrome (typ AR)
  • Ataxia telangiectasia
  • leukaemia
  • lymphoma
  • medulloblastoma
  • glioma
  • ataxia-telangiectasia
  • Lymphoma, ALL (particularly T-ALL)
  • Leukaemia

Green ATM in Brain cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Adult Glioma

Red ATM in Familial Tumours Syndromes of the central & peripheral Nervous system

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.9

review Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Brain, CNS, and PNS Cancer

Green ATM in Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.22

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ataxia Telangiectasia

Green ATM in COVID-19 research


Level 2: Viral research
Version 1.77

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Ataxia telangiectasia (ATM)
  • immunodeficiency
  • Combined immunodeficiencies with associated or syndromic features
  • Ataxia, telangiectasia, pulmonary infections, lymphoreticular and other malignancies, increased alpha fetoprotein, increased radiosensitivity, chromosomal instability and chromosomal translocations
  • Ataxia-telangiectasia, 208900

Red ATM in Primary ovarian insufficiency

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.22

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Ataxia-telangiectasia 208900

Green ATM in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.86

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
  • Ataxia telangiectasia

Green ATM in Ataxia and cerebellar anomalies - narrow panel


Version 2.161
Latest signed off version: v2.23 (8 Oct 2020)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Ataxia-telangiectasia,
    • Ataxia-Telangiectasia

    Red ATM in Hereditary haemorrhagic telangiectasia

    Level 3: Vascular lung disorders
    Level 2: Respiratory disorders
    Version 2.6
    Latest signed off version: v2.2 (2 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Ataxia-telangiectasia, 208900

    Red ATM in Inherited ovarian cancer (without breast cancer)

    Level 3: Breast and endocrine
    Level 2: Tumour syndromes
    Version 2.20
    Latest signed off version: v2.2 (4 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Radboud University Medical Center, Nijmegen
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • Ataxia-telangiectasia, 208900
    • Lymphoma, B-cell non-Hodgkin, somatic
    • {Breast cancer, susceptibility to}, 114480
    • Lymphoma, mantle cell
    • T-cell prolymphocytic leukemia, somatic
    • Breast and Ovarian Cancer

    Green ATM in Tumour predisposition - childhood onset

    Level 3: Childhood Tumours
    Level 2: Tumour syndromes
    Version 2.17
    Latest signed off version: v2.5 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert List
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ataxia Telangiectasia
    • 208900

    Green ATM in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.216

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    Phenotypes
    • Ataxia-Telangiectasia
    • Ataxia-telangiectasia,

    Green ATM in Primary immunodeficiency


    Version 2.419
    Latest signed off version: v2.1 (24 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • North West GLH
    • London North GLH
    • IUIS Classification February 2018
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • ESID Registry 20171117
    • GRID V2.0
    Phenotypes
    • Ataxia-telangiectasia, 208900
    • Ataxia telangiectasia (ATM)
    • immunodeficiency
    • Ataxia, telangiectasia, pulmonary infections, lymphoreticular and other malignancies, increased alpha fetoprotein, increased radiosensitivity, chromosomal instability and chromosomal translocations
    • Combined immunodeficiencies with associated or syndromic features

    Green ATM in Vascular skin disorders


    Version 1.47
    Latest signed off version: v1.3 (15 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Ataxia telengiectasia, OMIM:208900

    Green ATM in Childhood solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.14

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ataxia Telangiectasia

    Green ATM in Adult solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 2.9
    Latest signed off version: v2.2 (18 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ataxia Telangiectasia

    Green ATM in Haematological malignancies cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 2.15
    Latest signed off version: v2.2 (18 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Curated sources
    Phenotypes
    • Class: BM failure syndrome (typ AR)
    • Ataxia telangiectasia
    • leukaemia
    • lymphoma
    • medulloblastoma
    • glioma
    • ataxia-telangiectasia
    • Lymphoma, ALL (particularly T-ALL)
    • Leukaemia

    Red ATM in Neurodegenerative disorders - adult onset


    Version 2.174
    Latest signed off version: v2.31 (8 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Dystonia
    • Ataxia-Telangiectasia
    • Ataxia telangiectasia
    • Ataxia-telangiectasia,

    Red ATM in Fetal anomalies


    Version 1.648
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • ATAXIA-TELANGIECTASIA

    Green ATM in DDG2P


    Version 2.27
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ATAXIA-TELANGIECTASIA 208900

    Green ATM in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.384

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Emory Genetics Laboratory
    Phenotypes
    • Hereditary Neuropathies
    • Ataxia-telangiectasia

    Green ATM in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1068
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • ATAXIA-TELANGIECTASIA
    • AT

    Green ATM in Hereditary ataxia - adult onset


    Version 2.42
    Latest signed off version: v2.13 (6 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Ataxia-telangiectasia, 607585
    • Ataxia-Telangiectasia

    Green ATM in Adult onset movement disorder


    Version 1.113
    Latest signed off version: v1.14 (15 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Ataxia-telangiectasia OMIM:208900
    • ataxia telangiectasia MONDO:0008840

    Amber ATM in Sarcoma susceptibility


    Version 1.69
    Latest signed off version: v1.2 (18 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Sarcoma, MONDO:0005089

    Amber ATM in Hereditary neuropathy NOT PMP22 copy number


    Version 1.25
    Latest signed off version: v1.2 (27 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • South West GLH
    • Emory Genetics Laboratory
    • London North GLH
    • NHS GMS
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Hereditary Neuropathies
    • Ataxia-telangiectasia

    Green ATM in Childhood onset dystonia or chorea or related movement disorder


    Version 1.100
    Latest signed off version: v1.58 (6 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Dystonia
    • Ataxia telangiectasia, 208900

    Green ATM in Severe Paediatric Disorders


    Version 1.76

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ataxia-telangiectasia, 208900