Amyotrophic lateral sclerosis/motor neuron disease
Gene: ANGEnsemblGeneIds (GRCh38): ENSG00000214274
EnsemblGeneIds (GRCh37): ENSG00000214274
OMIM: 105850, Gene2Phenotype
ANG is in 2 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted to green due to presence on the NHNN panel in development.Created: 15 Jun 2016, 1:02 p.m.
Multiple families/cases reported in OMIM for different variants.Created: 13 Jun 2016, 10:36 a.m.
This gene is on the ALS/MND NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 13 Jun 2016, 9:09 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Amyotrophic Lateral Sclerosis, Dominant
- Amyotrophic lateral sclerosis 9, 611895
- familial amyotrophic lateral sclerosis (ALS9)
- OMIM
- 105850
- Clinvar variants
- Variants in ANG
- Penetrance
- Complete
- Publications
-
- PMID: 26753798 - meta-analysis reporting that the rs11701 SNP is not associated with ALS
- PMID: 26255299 - meta-analysis concluding that the K17I variant increases the risk for ALS and familial ALS but not sporadic ALS in Caucasian patients
- PMID: 25907842 - 31 Chinese Han families with familial amyotrophic lateral sclerosis were screened but no ANG gene variants were found, suggesting it is a rare cause of ALS in this population
- PMID: 25372031 functional investigation of ANG variants.
- Panels with this gene
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 19th December 2016 following external review and internal curation
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ANG were set to Amyotrophic Lateral Sclerosis, Dominant; Amyotrophic lateral sclerosis 9, 611895; familial amyotrophic lateral sclerosis (ALS9)
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ANG were set to PMID: 26753798 - meta-analysis reporting that the rs11701 SNP is not associated with ALS; PMID: 26255299 - meta-analysis concluding that the K17I variant increases the risk for ALS and familial ALS but not sporadic ALS in Caucasian patients; PMID: 25907842 - 31 Chinese Han families with familial amyotrophic lateral sclerosis were screened but no ANG gene variants were found, suggesting it is a rare cause of ALS in this population; PMID: 25372031 functional investigation of ANG variants.
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ANG were set to PMID: 26753798 - meta-analysis reporting that the rs11701 SNP is not associated with ALS; PMID: 26255299 - meta-analysis concluding that the K17I variant increases the risk for ALS and familial ALS but not sporadic ALS in Caucasian patients; PMID: 25907842 - 31 Chinese Han families with familial amyotrophic lateral sclerosis were screened but no ANG gene variants were found, suggesting it is a rare cause of ALS in this population.
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ANG were set to PMID: 26753798 - meta-analysis reporting that the rs11701 SNP is not associated with ALS; PMID: 26255299 - meta-analysis concluding that the K17I variant increases the risk for ALS and familial ALS but not sporadic ALS in Caucasian patients; PMID: 25907842 - 31 Chinese Han families with familial amyotrophic lateral sclerosis were screened but no ANG gene variants were found.
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ANG were set to PMID: 26753798 - meta-analysis reporting that the rs11701 SNP is not associated with ALS; PMID: 26255299 - meta-analysis concluding that the K17I variant increases the risk for ALS and familial ALS but not sporadic ALS in Caucasian patients.
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ANG were set to PMID: 26753798 - meta-analysis reporting that the rs11701 SNP is not associated with ALS.
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ANG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)ANG was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ANG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)ANG was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ANG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)ANG was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)ANG was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen