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Motor Neurone Disease

Gene: ANG

Amber List (moderate evidence)
ANG (angiogenin)
EnsemblGeneIds (GRCh38): ENSG00000214274
EnsemblGeneIds (GRCh37): ENSG00000214274
OMIM: 105850, Gene2Phenotype
ANG is in 4 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Limited gene-disease validity classification by ClinGen ALS GCEP - 08/02/2022
Created: 21 Jun 2023, 10 p.m. | Last Modified: 21 Jun 2023, 10 p.m.
Panel Version: 0.172
Created: 21 Jun 2023, 9:59 p.m.
Last Modified: 21 Jun 2023, 9:59 p.m.
Panel version: 0.171

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

At least 9 individuals from 9 unrelated families are known to carry pathogenic loss of function mutations for familial ALS.

In vitro functional assay using HUVEC tube formation on fibrin gel showed that mutations in ANG lead to a loss of function in tube formation and a complete loss of their angiogenic activities (PMID:17886298).
Created: 17 May 2023, 6:09 a.m. | Last Modified: 17 May 2023, 6:09 a.m.
Panel Version: 0.138

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyotrophic Lateral Sclerosis 9 (MONDO: 0012753; MIM#611895)

Publications

Created: 17 May 2023, 6:09 a.m.
Last Modified: 17 May 2023, 6:09 a.m.
Panel version: 0.138

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyotrophic Lateral Sclerosis 9 (MONDO: 0012753
  • MIM#611895)
OMIM
105850
Clinvar variants
Variants in ANG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Aug 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ang has been classified as Amber List (Moderate Evidence).

21 Jun 2023, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ang has been classified as Red List (Low Evidence).

21 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ang has been classified as Amber List (Moderate Evidence).

21 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ang has been classified as Amber List (Moderate Evidence).

30 May 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ang has been classified as Green List (High Evidence).

30 May 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ANG were changed from to Amyotrophic Lateral Sclerosis 9 (MONDO: 0012753; MIM#611895)

30 May 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ANG were set to

30 May 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ANG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ANG was added gene: ANG was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: ANG was set to Unknown