COBLL1

cordon-bleu WH2 repeat protein like 1
OMIM: 610318, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber COBLL1 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cleft lip/palate MONDO:0016044, COBLL1-related

Amber COBLL1 in Clefting disorders

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

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cleft lip/palate MONDO:0016044, COBLL1-related