ATM

ATM serine/threonine kinase
OMIM: 607585
PanelMode of inheritanceDetails
13 panels
R-numbers: R56
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia-telangiectasia OMIM:208900, ataxia telangiectasia MONDO:0008840
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia Telangiectasia
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia-telangiectasia, OMIM:208900
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adult Glioma
R-numbers: R57
Signed-off version 2.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia-telangiectasia, OMIM:208900
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ATAXIA-TELANGIECTASIA 208900
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia-telangiectasia, OMIM:208900, T-cell prolymphocytic leukemia, somatic
R-numbers: R54
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia-telangiectasia, OMIM:208900
R-numbers: R208
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Breast cancer, susceptibility to}, OMIM:114480
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia-telangiectasia, OMIM:208900
R-numbers: R15
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia-telangiectasia, OMIM:208900, Combined immunodeficiencies with associated or syndromic features, Ataxia, telangiectasia, pulmonary infections, lymphoreticular and other malignancies, increased alpha fetoprotein, increased radiosensitivity, chromosomal instability and chromosomal translocations
R-numbers: R359
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia-telangiectasia, OMIM:208900
R-numbers: R326
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia telengiectasia