MEOX1

mesenchyme homeobox 1
OMIM: 600147, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green MEOX1 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.223

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Klippel-Feil syndrome 2, OMIM:214300
  • Klippel-Feil syndrome 2, autosomal recessive, MONDO:0008958

Green MEOX1 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Klippel-Feil syndrome 2, OMIM:214300
  • Klippel-Feil syndrome 2, autosomal recessive, MONDO:0008958

Green MEOX1 in Skeletal dysplasia

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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Klippel-Feil syndrome 2 214300

Amber MEOX1 in Clefting disorders

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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE
  • KFS2

Green MEOX1 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Klippel-Feil syndrome 2, OMIM:214300
  • Klippel-Feil syndrome 2, autosomal recessive, MONDO:0008958