1. Panels
  2. Blepharophimosis
  3. COLEC11
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Blepharophimosis

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sources: Expert Review
Created: 3 May 2020, 2:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3MC syndrome 2, MIM# 265050

Created: 3 May 2020, 2:54 a.m.

Panel version: 0.11

Details

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

History Filter Activity

3 May 2020, 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).

3 May 2020, 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).

3 May 2020, Gel status: 1

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 Blepharophimosis. Sources: Expert Review Mode of inheritance for gene: COLEC11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COLEC11 were set to 3MC syndrome 2, MIM# 265050 Review for gene: COLEC11 was set to GREEN