Hereditary ataxia
Gene: ATMComment when marking as ready: Good evidence from expert reviewer and OMIMCreated: 2 Feb 2016, 9:57 a.m.
Fine. Lots of evidence in literature. Positives in our cohortCreated: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia-Telangiectasia ; Ataxia-telangiectasia,
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: ATM were changed from Ataxia-Telangiectasia ; Ataxia-telangiectasia, to Ataxia-telangiectasia, OMIM:208900
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene ATM was changed to BIALLELIC, autosomal or pseudoautosomal
ATM was added to Hereditary ataxiapanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Model of inheritance for gene ATM was changed to BIALLELIC, autosomal or pseudoautosomal
ATM was added to Hereditary ataxiapanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
ATM was added to Hereditary ataxiapanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen