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  3. ANG
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Adult onset neurodegenerative disorder

Gene: ANG

Green List (high evidence)
ANG (angiogenin)
EnsemblGeneIds (GRCh38): ENSG00000214274
EnsemblGeneIds (GRCh37): ENSG00000214274
OMIM: 105850, Gene2Phenotype
ANG is in 2 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

ALS - progressive upper and lower motor neuron loss affecting the limbs, but 1 patient presented with parkinsonism and later developed signs of frontotemporal dementia. Several cases - no nonsense/fs variants reported, all missense.
Created: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Amyotrophic lateral sclerosis 9, 611895; Amyotrophic Lateral Sclerosis, Dominant; familial amyotrophic lateral sclerosis (ALS9)

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments

Created: 2 Sep 2019, 4:06 p.m.
Last Modified: 2 Sep 2019, 4:06 p.m.
Panel version: 1.99

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Both sporadic and familial cases. Onset from 27 years.
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Amyotrophic lateral sclerosis 9, 611895; Amyotrophic Lateral Sclerosis, Dominant; familial amyotrophic lateral sclerosis (ALS9)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 23 Jul 2019, 3:35 p.m.
Last Modified: 23 Jul 2019, 3:35 p.m.
Panel version: 1.72

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 5:35 p.m.
Created: 23 Apr 2019, 5:35 p.m.

Panel version: 1.101

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Created: 23 Apr 2019, 5:31 p.m.

Panel version: 1.10

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
Phenotypes
  • Amyotrophic lateral sclerosis 9, 611895
OMIM
105850
Clinvar variants
Variants in ANG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ANG were changed from Amyotrophic lateral sclerosis 9, 611895; Amyotrophic Lateral Sclerosis, Dominant; familial amyotrophic lateral sclerosis (ALS9) to Amyotrophic lateral sclerosis 9, 611895

2 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to ANG.

23 Jul 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ANG were changed from 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: 25372031 functional investigation of ANG variants.; 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: 26753798 - meta-analysis reporting that the rs11701 SNP is not associated with ALS to 16501576; 26753798; 17886298; 26255299

23 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ANG.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ANG.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to ANG.

25 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Comment on phenotypes: amended

18 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: ANG was added gene: ANG was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: ANG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ANG were set to 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: 25372031 functional investigation of ANG variants.; 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: 26753798 - meta-analysis reporting that the rs11701 SNP is not associated with ALS Phenotypes for gene: ANG were set to Amyotrophic lateral sclerosis 9, 611895; Amyotrophic Lateral Sclerosis, Dominant; familial amyotrophic lateral sclerosis (ALS9)