PanelApp (test)
  1. Genes and Genomic Entities
  2. ATR

ATR

ATR serine/threonine kinase
OMIM: 601215, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels

Red ATR in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.356

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Seckel syndrome, MIM#210600

Green ATR in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Seckel syndrome 1, MIM# 210600

Green ATR in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Seckel syndrome 1, MIM# 210600

Green ATR in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.522

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green ATR in Homologous_recombination_deficiency_WTS_UMCCR


Level 2: Cancer
Version 0.43

review Unknown
Sources
  • Literature
  • Expert Review Green
Tags
  • umccr

Green ATR in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Seckel syndrome 1, MIM# 210600

Red ATR in Vascular Malformations_Germline


Level 2: Cardiovascular disorders
Version 1.11

Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Cutaneous telangiectasia and cancer syndrome, familial, MIM# 614564

    Red ATR in CGC_86


    Version 0.2

    		review Other
    Sources
    • CGC_86
    Phenotypes
    • Seckel syndrome
    • Cutaneous telangiectasia and cancer syndrome, familial

    Red ATR in TCGA_PANCAN_2018


    Version 0.2

    		review Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • Seckel syndrome
    • Cutaneous telangiectasia and cancer syndrome, familial

    Green ATR in Microcephalic Primordial Dwarfism and Slender bone dysplasias

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.29

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green ATR in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Seckel syndrome 1, 210600 (3)

    Amber ATR in Cerebral vascular malformations


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.39

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Genomics England PanelApp
    • Expert Review Amber
    Phenotypes
    • Seckel syndrome 1 210600

    Red ATR in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Seckel syndrome

    Amber ATR in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.252

    		review Unknown
    Sources
    • Expert Review Amber
    Phenotypes
    • SECKEL SYNDROME 1
    • SCKL1

    Green ATR in Growth failure


    Version 1.76

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Seckel syndrome 1, MIM# 210600

    Green ATR in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Seckel syndrome 1, MONDO:0008869
    • Seckel syndrome 1, OMIM:210600

    Green ATR in Prepair 1000+


    Level 2: Screening
    Version 1.9

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Seckel syndrome 1, 210600 (3)

    Red ATR in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Seckel syndrome

    Green ATR in Prepair 500+


    Level 2: Screening
    Version 1.1

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Seckel syndrome 1, 210600 (3)