MAPRE2

microtubule associated protein RP/EB family member 2
OMIM: 605789, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green MAPRE2 in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Symmetric circumferential skin creases, congenital, 2, MIM# 616734

Green MAPRE2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Symmetric circumferential skin creases, congenital, 2, MIM# 616734

Green MAPRE2 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.252

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2
  • CSCSC2

Green MAPRE2 in Fetal anomalies


Version 1.255

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Symmetric circumferential skin creases, congenital, 2, MIM#616734