Hereditary haemorrhagic telangiectasia
Gene: ATMComment 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.
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.
Phenotypes for gene: ATM were changed from Ataxia-telangiectasia, 208900 to Ataxia-telangiectasia, OMIM:208900
Promoted to V1 (12th December 2016)
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for ATM were set to Ataxia-telangiectasia, 208900
Publications for ATM were set to 6417247;2666519; 2212727
ATM was added to Hereditary haemorrhagic telangiectasiapanel. Source: UKGTN
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
ATM was added to Hereditary haemorrhagic telangiectasiapanel. Sources: Radboud University Medical Center, Nijmegen
ATM was created by ellenmcdonagh