ATM

ATM serine/threonine kinase
OMIM: 607585
PanelMode of inheritanceDetails
11 panels
R-numbers: R56
Signed-off version 1.121
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 2.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia-telangiectasia,, Ataxia-Telangiectasia
R-numbers: R57
Signed-off version 1.137
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia-telangiectasia, OMIM:208900
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ATAXIA-TELANGIECTASIA 208900
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Class: BM failure syndrome (typ AR), Ataxia telangiectasia, leukaemia, lymphoma, medulloblastoma, glioma, ataxia-telangiectasia, Lymphoma, ALL (particularly T-ALL), Leukaemia
R-numbers: R54
Signed-off version 2.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia-telangiectasia, 607585, Ataxia-Telangiectasia
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ATAXIA-TELANGIECTASIA, AT
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia-telangiectasia, 208900, Ataxia telangiectasia (ATM), immunodeficiency, Ataxia, telangiectasia, pulmonary infections, lymphoreticular and other malignancies, increased alpha fetoprotein, increased radiosensitivity, chromosomal instability and chromosomal translocations, Combined immunodeficiencies with associated or syndromic features
R-numbers: R359
Signed-off version 2.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia Telangiectasia, 208900
R-numbers: R326
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia telengiectasia