EN1

engrailed homeobox 1
OMIM: 131290, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green EN1 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.223

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • ENDOVE syndrome, limb-only type, MIM# 619217
  • ENDOVE syndrome, limb-brain type, MIM# 619218
Tags
  • SV/CNV
  • 5'UTR

Green EN1 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ENDOVE syndrome, limb-only type, MIM# 619217
  • ENDOVE syndrome, limb-brain type, MIM# 619218
Tags
  • SV/CNV
  • 5'UTR

Green EN1 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
  • ENDOVE syndrome, limb-only type, MIM# 619217
  • ENDOVE syndrome, limb-brain type, MIM# 619218
Tags
  • SV/CNV
  • 5'UTR

Green EN1 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert list
Phenotypes
  • ENDOVE syndrome, limb-brain type - OMIM#619218
Tags
  • SV/CNV
  • 5'UTR