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Intellectual disability

Gene: COLEC10

Red List (low evidence)

COLEC10 (collectin subfamily member 10)
EnsemblGeneIds (GRCh38): ENSG00000184374
EnsemblGeneIds (GRCh37): ENSG00000184374
OMIM: 607620, Gene2Phenotype
COLEC10 is in 7 panels

2 reviews

Rebecca Foulger (Genomics England curator)

The red review by Konstantinos Varvagiannis (December 2018) supports the Red rating of COLEC10 on the ID panel.
Created: 15 Aug 2019, 1:34 p.m. | Last Modified: 15 Aug 2019, 1:34 p.m.
Panel Version: 2.1010

Konstantinos Varvagiannis (Other)

Red List (low evidence)

COLEC10 was already in this panel as red (0 reviews).

3 individuals from 2 unrelated consanguineous families have been reported in PMID: 28301481. None had hypotonia or developmental delay.

There are no further reports.

As a result, this gene should probably remain red.
Created: 20 Dec 2018, 10:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3MC syndrome 3 (MIM 248340)

Publications

Details

Sources
Phenotypes
  • 3MC syndrome 3, 248340
OMIM
607620
Clinvar variants
Variants in COLEC10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Aug 2019, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: COLEC10 were changed from to 3MC syndrome 3, 248340

15 Aug 2019, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: COLEC10 were set to

28 Sep 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: COLEC10 was added gene: COLEC10 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services Mode of inheritance for gene: COLEC10 was set to