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Clefting

Gene: COL11A1

Green List (high evidence)

COL11A1 (collagen type XI alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000060718
EnsemblGeneIds (GRCh37): ENSG00000060718
OMIM: 120280, Gene2Phenotype
COL11A1 is in 19 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.
Created: 3 Aug 2022, 3:21 p.m. | Last Modified: 3 Aug 2022, 3:21 p.m.
Panel Version: 2.69

Eleanor Williams (Genomics England Curator)

The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 5 Mar 2022, 5:14 p.m. | Last Modified: 5 Mar 2022, 5:14 p.m.
Panel Version: 2.65

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to expert review green, and more than 3 families reported for Stickler syndrome.
Created: 16 Dec 2016, 3 p.m.

Usha Kini (Oxford Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Stckler syndrome

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

5 Mar 2022, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene COL11A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

26 Oct 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: COL11A1 were changed from Orofacial Clefting with skeletal features; Stickler Syndrome; Cleft palate to Marshall Syndrome, OMIM:154780; Stickler syndrome, type II, OMIM:604841

13 Aug 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to COL11A1. Panel: Clefting Phenotypes for gene COL11A1 were set to Orofacial Clefting with skeletal features, Stickler Syndrome, Cleft palate

31 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

16 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

16 Dec 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for COL11A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

16 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

16 Dec 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for COL11A1 were set to Orofacial Clefting with skeletal features; Stickler Syndrome

18 Aug 2016, Gel status: 1

Upload gene information

Olivia Niblock (Genomics England Curator)

COL11A1 was added to Cleftingpanel. Sources: Eligibility statement prior genetic testing

18 Aug 2016, Gel status: 1

Set Phenotypes

Olivia Niblock (Genomics England Curator)

Phenotypes for gene COL11A1 were set to Orofacial Clefting with skeletal features; Stickler Syndrome

18 Aug 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

COL11A1 was created by oniblock

18 Aug 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

COL11A1 was added to Cleftingpanel. Sources: UKGTN