AXIN1

axin 1
OMIM: 603816, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green AXIN1 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.140

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558

Green AXIN1 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558

Green AXIN1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558

Green AXIN1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558

Red AXIN1 in NCGC


Version 0.2

review Other
Sources
  • NCGC
Phenotypes
  • NA