GLDN

gliomedin
OMIM: 608603, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green GLDN in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.416

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lethal congenital contracture syndrome 11, MIM# 617194
  • MONDO:0014965
Amber GLDN in Hydrops fetalis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.324

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Lethal congenital contracture syndrome 11, MIM# 617194
Green GLDN in Mendeliome


Version 1.2302

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lethal congenital contracture syndrome 11, MIM# 617194
  • MONDO:0014965
Green GLDN in Multiple pterygium syndrome_Fetal akinesia sequence


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.5

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Lethal congenital contracture syndrome 11, MIM# 617194
  • MONDO:0014965
Green GLDN in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lethal congenital contracture syndrome 11, 617194 (3), Autosomal recessive
Green GLDN in Fetal anomalies


Version 1.313

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Lethal congenital contracture syndrome 11, MIM# 617194
  • MONDO:0014965
Green GLDN in Prepair 1000+


Level 2: Screening
Version 1.1566

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lethal congenital contracture syndrome 11, 617194 (3), Autosomal recessive