1. Panels
  2. Craniosynostosis
  3. COLEC11
STRs in panel
Prev Next
Regions in panel
Prev Next

Craniosynostosis

Gene: COLEC11

Green List (high evidence)
COLEC11 (collectin subfamily member 11)
EnsemblGeneIds (GRCh38): ENSG00000118004
EnsemblGeneIds (GRCh37): ENSG00000118004
OMIM: 612502, Gene2Phenotype
COLEC11 is in 10 panels

1 review

Tiong Tan (Victorian Clinical Genetics Services)

Green List (high evidence)

Craniosynostosis occurs in 20-30% of individuals with 3MC syndrome
Sources: Literature
Created: 3 Jun 2020, 11:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
265050 3MC SYNDROME 2

Publications

Created: 3 Jun 2020, 11:21 a.m.

Panel version: 0.22

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 265050 3MC SYNDROME 2
OMIM
612502
Clinvar variants
Variants in COLEC11
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

Gene: colec11 has been classified as Green List (High Evidence).

3 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

Gene: colec11 has been classified as Green List (High Evidence).

3 Jun 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Tiong Tan (Victorian Clinical Genetics Services)

gene: COLEC11 was added gene: COLEC11 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: COLEC11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COLEC11 were set to 21258343 Phenotypes for gene: COLEC11 were set to 265050 3MC SYNDROME 2 Penetrance for gene: COLEC11 were set to Complete Review for gene: COLEC11 was set to GREEN