1. Panels
  2. Prepair 1000+
  3. COLEC11
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

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

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

Green List (high evidence)

3MC syndrome 2 causes facial dysmorphism,cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss, craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies amongst other rarer features (anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia and diastasis recti).

HGNC approved symbol/name: COLEC11
Is the phenotype(s) severe and onset <18yo ? Y
Known technical challenges? N
Gene reported in >3 independent families
Created: 21 Aug 2024, 1:46 a.m. | Last Modified: 21 Aug 2024, 1:46 a.m.
Panel Version: 1.187

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3MC syndrome 2, MIM# 265050; MONDO:0009927

Publications

Created: 21 Aug 2024, 1:46 a.m.
Last Modified: 21 Aug 2024, 1:46 a.m.
Panel version: 1.187

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • 3MC syndrome 2, MIM# 265050
  • MONDO:0009927
OMIM
612502
Clinvar variants
Variants in COLEC11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Aug 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COLEC11 were changed from 3MC syndrome 2, 265050 (3) to 3MC syndrome 2, MIM# 265050; MONDO:0009927

22 Aug 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COLEC11 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes 3MC syndrome 2, 265050 (3) for gene: COLEC11

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COLEC11 was added gene: COLEC11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: COLEC11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COLEC11 were set to 3MC syndrome 2, 265050 (3)