A2ML1

alpha-2-macroglobulin like 1
OMIM: 610627, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red A2ML1 in Pigmentary skin disorders


Version 3.11
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Other
  • Expert Review Red
Phenotypes
  • Noonan syndrome
Red A2ML1 in Growth failure in early childhood


Version 3.88
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Red
  • Expert list
Phenotypes
  • Noonan syndrome
Red A2ML1 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.524
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Red A2ML1 in RASopathies

    Level 3: RASopathies
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.81

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Other
    Phenotypes
    • Noonan syndrome