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Test MOI validation panel - do not edit

Gene: A2ML1

Green List (high evidence)
A2ML1 (alpha-2-macroglobulin like 1)
EnsemblGeneIds (GRCh38): ENSG00000166535
EnsemblGeneIds (GRCh37): ENSG00000166535
OMIM: 610627, Gene2Phenotype
A2ML1 is in 4 panels

1 review

Eleanor Williams (Genomics England Curator)

Created: 26 Jan 2020, 6:23 p.m.
Last Modified: 26 Jan 2020, 6:23 p.m.
Panel version: 0.4

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
Phenotypes
  • Allowed values MOI test - gene with 'unknown' MOI
OMIM
610627
Clinvar variants
Variants in A2ML1
Penetrance
None
Panels with this gene

History Filter Activity

20 Oct 2020, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: A2ML1 were changed from Test - gene with 'unknown' MOI to Allowed values MOI test - gene with 'unknown' MOI

19 Aug 2020, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: A2ML1 were changed from Validation test gene, not for genome analysis to Test - gene with 'unknown' MOI

19 Aug 2020, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: A2ML1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to Unknown

20 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: A2ML1 was changed from BIALLELIC, autosomal or pseudoautosomal with extra text to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

26 Jan 2020, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: A2ML1 were changed from to Validation test gene, not for genome analysis

26 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: A2ML1 was added gene: A2ML1 was added to PanelApp test validation panel. Sources: Expert Review Green Mode of inheritance for gene: A2ML1 was set to BIALLELIC, autosomal or pseudoautosomal with extra text