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  2. Pigmentary skin disorders
  3. A2ML1
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Pigmentary skin disorders

Gene: A2ML1

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

1 review

Catherine Snow (Genomics England)

Following discussion with members of the Skin Specialist Group at the Webex call on 25.04.19, it was agreed that genes associated with RASopathies should be included on this panel. Therefore added to panel as a Red gene.
Created: 17 Sep 2019, 5:08 p.m. | Last Modified: 17 Sep 2019, 5:08 p.m.
Panel Version: 0.13
Created: 17 Sep 2019, 5:08 p.m.
Last Modified: 17 Sep 2019, 5:08 p.m.
Panel version: 0.13

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Other
  • Expert Review Red
Phenotypes
  • Noonan syndrome
OMIM
610627
Clinvar variants
Variants in A2ML1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Sep 2019, Gel status: 1

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

Catherine Snow (Genomics England)

gene: A2ML1 was added gene: A2ML1 was added to Pigmentary skin disorders. Sources: Expert Review Red,Other Mode of inheritance for gene: A2ML1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: A2ML1 were set to 24939586; 27942422; 25862627 Phenotypes for gene: A2ML1 were set to Noonan syndrome