This Panel is marked as Internal
Familial and multiple pulmonary arteriovenous malformations
Gene: ATM
ATM (ATM serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000149311
EnsemblGeneIds (GRCh37): ENSG00000149311
OMIM: 607585, Gene2Phenotype
ATM is in 32 panels
EnsemblGeneIds (GRCh38): ENSG00000149311
EnsemblGeneIds (GRCh37): ENSG00000149311
OMIM: 607585, Gene2Phenotype
ATM is in 32 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Phenotype not relevant for this panel according to expert reviewer Claire Shovlin (Imperial College London)Created: 13 Dec 2016, 1:45 p.m.
Comment on phenotypes: Also associated with: Lymphoma, B-cell non-Hodgkin, somatic; Lymphoma, mantle cell, somatic; T-cell prolymphocytic leukemia, somatic;{Breast cancer, susceptibility to} 114480Created: 13 Dec 2016, 10:48 a.m.
Claire Shovlin (Imperial College London)
I assume this listing has been made because pulmonary arteriovenous malformations are commonly due to underlying hereditary haemorrhagic telangiectasia (HHT), and ATM pathogenic variants lead to ataxia telangiectasia.
The telangiectasia in ataxia telangiectasia are not the same as those in hereditary haemorrhagic telangiectasia, clinically or histopathologically (PMID: 6417247; PMID: 2666519; PMID: 2212727), and the serine threonine kinases belong to different signalling pathways. There is no evidence that I am aware of that the molecular pathways disrupted in these diseases overlap.Created: 13 Nov 2016, 10:56 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Phenotypes
-
- Ataxia-telangiectasia, 208900
- OMIM
- 607585
- Clinvar variants
- Variants in ATM
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Familial breast cancer
- Inherited prostate cancer
- Brain cancer pertinent cancer susceptibility
- Primary ovarian insufficiency
- Adult onset neurodegenerative disorder
- Inherited pancreatic cancer
- Haematological malignancies for rare disease
- Hereditary ataxia with onset in adulthood
- Ataxia telangiectasia - mutation testing
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- Hereditary neuropathy
- Childhood solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Inherited breast cancer and ovarian cancer
- Vascular skin disorders
- Childhood onset dystonia, chorea or related movement disorder
- Familial Tumours Syndromes of the central & peripheral Nervous system
- COVID-19 research
- Ataxia and cerebellar anomalies - narrow panel
- Childhood solid tumours
- Adult solid tumours for rare disease
- Sarcoma susceptibility
- Early onset dystonia
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Adult solid tumours cancer susceptibility
- Adult onset dystonia, chorea or related movement disorder
- Inherited ovarian cancer (without breast cancer)
- Hereditary haemorrhagic telangiectasia
History Filter Activity
13 Dec 2016, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
13 Dec 2016, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for ATM were set to Ataxia-telangiectasia, 208900
13 Dec 2016, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for ATM were set to 6417247; 2666519;2212727
13 Dec 2016, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
19 Nov 2015, Gel status: 3
Added New Source
Ellen McDonagh (Genomics England Curator)ATM was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
19 Nov 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ATM was created by ellenmcdonagh