Hereditary Neuropathy - complex
Gene: ATMEnsemblGeneIds (GRCh38): ENSG00000149311
EnsemblGeneIds (GRCh37): ENSG00000149311
OMIM: 607585, Gene2Phenotype
ATM is in 23 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Limited reports of neuropathy; however, also note phenotypic overlap.Created: 2 Aug 2023, 4:57 a.m. | Last Modified: 2 Aug 2023, 4:57 a.m.
Panel Version: 0.209
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia-telangiectasia, MIM#208900
Publications
Sangavi Sivagnanasundram (Melbourne Health)
Neuropathy is not a prominent feature of ATM-related Ataxia.Created: 1 Aug 2023, 4:11 a.m. | Last Modified: 1 Aug 2023, 4:11 a.m.
Panel Version: 0.205
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia-telangiectasia, MIM#208900
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Royal Melbourne Hospital
- Phenotypes
-
- Ataxia-telangiectasia, MIM#208900
- Childhood-onset progressive ataxia, conjunctival telangiectasia, sensory axonal neuropathy, chorea and dystonia, immunodeficiency and increased risk of malignancy, elevated α-fetoprotein
- Ataxia-telangiectasia syndrome
- OMIM
- 607585
- Clinvar variants
- Variants in ATM
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Chromosome Breakage Disorders
- Prostate Cancer
- Prepair 1000+
- Breast Cancer
- Incidentalome_PREGEN_DRAFT
- Hereditary Neuropathy - complex
- Pancreatic Cancer
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Cancer Predisposition_Paediatric
- Vascular Malformations_Germline
- Regression
- Fetal anomalies
- Additional findings_Paediatric
- Dystonia - complex
- Ataxia - adult onset
- Mendeliome
- Prepair 500+
- Ataxia - paediatric
- Growth failure
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atm has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ATM were changed from Childhood-onset progressive ataxia, conjunctival telangiectasia, sensory axonal neuropathy, chorea and dystonia, immunodeficiency and increased risk of malignancy, elevated α-fetoprotein; Ataxia-telangiectasia syndrome to Ataxia-telangiectasia, MIM#208900; Childhood-onset progressive ataxia, conjunctival telangiectasia, sensory axonal neuropathy, chorea and dystonia, immunodeficiency and increased risk of malignancy, elevated α-fetoprotein; Ataxia-telangiectasia syndrome
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ATM were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atm has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ATM was added gene: ATM was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATM were set to Childhood-onset progressive ataxia, conjunctival telangiectasia, sensory axonal neuropathy, chorea and dystonia, immunodeficiency and increased risk of malignancy, elevated α-fetoprotein; Ataxia-telangiectasia syndrome