Hereditary haemorrhagic telangiectasia

Gene: ATM

Red List (low evidence)

ATM (ATM serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000149311
EnsemblGeneIds (GRCh37): ENSG00000149311
OMIM: 607585, Gene2Phenotype
ATM is in 29 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 Shovlin
Created: 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} 114480
Created: 12 Dec 2016, 11:34 a.m.

Claire Shovlin (Imperial College London)

Red List (low evidence)

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.

History Filter Activity

12 Dec 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 (12th December 2016)

12 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).

12 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).

12 Dec 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ATM were set to Ataxia-telangiectasia, 208900

12 Dec 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ATM were set to 6417247;2666519; 2212727

19 Nov 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

ATM was added to Hereditary haemorrhagic telangiectasiapanel. Source: UKGTN

19 Nov 2015, Gel status: 2

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

19 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ATM was added to Hereditary haemorrhagic telangiectasiapanel. Sources: Radboud University Medical Center, Nijmegen

19 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ATM was created by ellenmcdonagh