COLEC11

collectin subfamily member 11
OMIM: 612502, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green COLEC11 in Blepharophimosis


Level 2: Ophthalmological disorders
Version 1.1

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • 3MC syndrome 2, MIM# 265050

Green COLEC11 in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.68

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 265050 3MC SYNDROME 2

Green COLEC11 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 3MC syndrome 2, MIM# 265050

Green COLEC11 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • 3MC syndrome 2, MIM# 265050

Green COLEC11 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • 3MC syndrome 2 265050

Green COLEC11 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
  • 3MC syndrome 2, 265050 (3)

Green COLEC11 in Clefting disorders

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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 3MC2
  • 3MC SYNDROME 2

Green COLEC11 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • 3MC syndrome 2, MIM# 265050

Green COLEC11 in Prepair 1000+


Level 2: Screening
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 3MC syndrome 2, 265050 (3)

Green COLEC11 in Prepair 500+


Level 2: Screening
Version 1.1

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 3MC syndrome 2, 265050 (3)