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Skeletal dysplasia

Gene: COLEC10

Red List (low evidence)

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

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

3MC not listed in SD nosology paper. Phenotype includes craniosynostosis and radioulnarsynostosis. Only 3 cases (2 families) reported so far - 2 have short stature & 2 have digit anomalies (pre-axial polydacytyly or clinodactyly).; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3MC syndrome 3 -248340

Publications

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: COLEC10; Initial rating suggestion: Amber
Created: 6 Mar 2019, 11:36 a.m.

Details

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

History Filter Activity

6 May 2019, Gel status: 1

Set Phenotypes, Set publications

Eleanor Williams (Genomics England Curator)

Added phenotypes 3MC syndrome 3 -248340 for gene: COLEC10 Publications for gene COLEC10 were changed from to 28301481

6 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: COLEC10 was added gene: COLEC10 was added to Skeletal dysplasia. Sources: NHS GMS Mode of inheritance for gene: COLEC10 was set to