ZBTB42

zinc finger and BTB domain containing 42
OMIM: 613915, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber ZBTB42 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.416

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Lethal congenital contracture syndrome 6, MIM# 616248

Amber ZBTB42 in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Lethal congenital contracture syndrome 6, MIM# 616248

Amber ZBTB42 in Multiple pterygium syndrome_Fetal akinesia sequence


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.5

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Lethal congenital contracture syndrome 6, MIM# 616248

Amber ZBTB42 in Fetal anomalies


Version 1.313

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Expert list
Phenotypes
  • Lethal congenital contracture syndrome 6- #616248