MAB21L2

mab-21 like 2
OMIM: 604357, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green MAB21L2 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.43

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877

Green MAB21L2 in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877

Green MAB21L2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877

Green MAB21L2 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.305

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877

Green MAB21L2 in Fetal anomalies


Version 1.314

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877