Genomics England

ATM

ATM serine/threonine kinase

Panel	Mode of inheritance	Details
Filter panels17 panels
Green in Adult onset dystonia, chorea or related movement disorder R-numbers: R56 Signed-off version 4.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ataxia-telangiectasia OMIM:208900, ataxia telangiectasia MONDO:0008840
Green in Adult solid tumours cancer susceptibility Signed-off version 2.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ataxia Telangiectasia
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 7.19	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ataxia-telangiectasia, OMIM:208900
Green in Ataxia telangiectasia - mutation testing R-numbers: R295 Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes
Green in Brain cancer pertinent cancer susceptibility Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Adult Glioma
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 6.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ataxia-telangiectasia, OMIM:208900
Green in Childhood solid tumours R-numbers: R359 Signed-off version 4.20	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ataxia-telangiectasia, OMIM:208900
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.48	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ATAXIA-TELANGIECTASIA 208900
Green in Haematological malignancies cancer susceptibility Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ataxia-telangiectasia, OMIM:208900, T-cell prolymphocytic leukemia, somatic
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 7.11	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ataxia-telangiectasia, OMIM:208900
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 6.163	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ataxia-telangiectasia, OMIM:208900
Green in Inherited breast cancer and ovarian cancer R-numbers: R208 Signed-off version 2.5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes {Breast cancer, susceptibility to}, OMIM:114480
Green in Inherited pancreatic cancer R-numbers: R367 Signed-off version 2.9	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Breast, prostate, pancreatic cancer predisposition, recessive trait for ataxia telangiectasia
Green in Inherited prostate cancer R-numbers: R430 Signed-off version 1.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.134	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ataxia-telangiectasia, OMIM:208900
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 7.26	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
Green in Vascular skin disorders R-numbers: R326 Signed-off version 1.65	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ataxia telengiectasia, OMIM:208900