COBLL1:Ensemblv90

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber COBLL1 in Mendeliome


Version 1.3802

1 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 0.293

1 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 1.0

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