1. Panels
  2. Blepharophimosis
  3. COLEC10
STRs in panel
Prev Next
Regions in panel
Prev Next

Blepharophimosis

Gene: COLEC10

Green List (high evidence)
COLEC10 (collectin subfamily member 10)
EnsemblGeneIds (GRCh38): ENSG00000184374
EnsemblGeneIds (GRCh37): ENSG00000184374
OMIM: 607620, Gene2Phenotype
COLEC10 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sources: Expert Review
Created: 3 May 2020, 2:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3MC syndrome 3, MIM# 248340

Created: 3 May 2020, 2:57 a.m.

Panel version: 0.13

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • 3MC syndrome 3, MIM# 248340
OMIM
607620
Clinvar variants
Variants in COLEC10
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: colec10 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: colec10 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: COLEC10 was added gene: COLEC10 was added to Blepharophimosis. Sources: Expert Review Mode of inheritance for gene: COLEC10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COLEC10 were set to 3MC syndrome 3, MIM# 248340 Review for gene: COLEC10 was set to GREEN