Hereditary haemorrhagic telangiectasia
Gene: ATMEnsemblGeneIds (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: Not the correct phenotype for this panel according to expert reviewer Claire ShovlinCreated: 12 Dec 2016, 4:50 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: 12 Dec 2016, 11:34 a.m.
Claire Shovlin (Imperial College London)
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, 10:13 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Ataxia-telangiectasia, OMIM:208900
- OMIM
- 607585
- Clinvar variants
- Variants in ATM
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Familial breast cancer
- Intellectual disability
- Inherited prostate cancer
- Brain cancer pertinent cancer susceptibility
- Primary ovarian insufficiency
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Inherited pancreatic cancer
- Ataxia and cerebellar anomalies - narrow panel
- Haematological malignancies for rare disease
- Adult onset neurodegenerative disorder
- Hereditary ataxia with onset in adulthood
- Ataxia telangiectasia - mutation testing
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- DDG2P
- Hereditary neuropathy
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Inherited breast cancer and ovarian cancer
- Vascular skin disorders
- Familial Tumours Syndromes of the central & peripheral Nervous system
- COVID-19 research
- Childhood solid tumours
- Adult solid tumours for rare disease
- Sarcoma susceptibility
- Early onset dystonia
- Adult solid tumours cancer susceptibility
- Adult onset dystonia, chorea or related movement disorder
- Inherited ovarian cancer (without breast cancer)
- Hereditary neuropathy or pain disorder
- Hereditary haemorrhagic telangiectasia
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ATM were changed from Ataxia-telangiectasia, 208900 to Ataxia-telangiectasia, OMIM:208900
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 (12th December 2016)
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for ATM were set to Ataxia-telangiectasia, 208900
Set publications
Sarah Leigh (Genomics England Curator)Publications for ATM were set to 6417247;2666519; 2212727
Added New Source
Ellen McDonagh (Genomics England Curator)ATM was added to Hereditary haemorrhagic telangiectasiapanel. Source: UKGTN
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)ATM was added to Hereditary haemorrhagic telangiectasiapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene ATM was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)ATM was added to Hereditary haemorrhagic telangiectasiapanel. Sources: Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)ATM was created by ellenmcdonagh