AXIN1

axin 1
OMIM: 603816, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green AXIN1 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.149

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

Green AXIN1 in Mendeliome


Version 1.2374

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 1.83

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 0.305

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