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  2. Congenital myopathy
  3. COL12A1
STRs in panel
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Congenital myopathy

Gene: COL12A1

Green List (high evidence)
COL12A1 (collagen type XII alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000111799
EnsemblGeneIds (GRCh37): ENSG00000111799
OMIM: 120320, Gene2Phenotype
COL12A1 is in 8 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 30 Apr 2019, 10:09 a.m.
Created: 30 Apr 2019, 10:09 a.m.

Panel version: 1.76

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
EDS/myopathy overlap syndrome

Publications

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

Created: 30 Apr 2019, 10:05 a.m.

Panel version: 1.158

Helen Brittain (Genomics England Curator)

Comment when marking as ready: 3 cases from 2 families and relevant mouse model in literature. Appropriate to include.
Created: 7 Mar 2017, 2:49 p.m.
Comment on list classification: 3 cases from 2 families and relevant mouse model in literature
Created: 7 Mar 2017, 2:49 p.m.
Created: 7 Mar 2017, 2:49 p.m.

Panel version: 1.9

Anna Sarkozy (Great Ormond Street Hospital)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
EDS/myopathy overlap syndrome

Publications

Created: 6 Mar 2017, 12:14 p.m.

Panel version: 1.0

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
Phenotypes
  • EDS/myopathy overlap syndrome
OMIM
120320
Clinvar variants
Variants in COL12A1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

30 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to COL12A1.

30 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to COL12A1. Rating Changed from Green List (high evidence) to Green List (high evidence)

7 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

7 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

6 Mar 2017, Gel status: 0

Added New Source

Anna Sarkozy (Great Ormond Street Hospital)

COL12A1 was added to Congenital myopathypanel. Sources: UCL

6 Mar 2017, Gel status: 0

Created

Anna Sarkozy (Great Ormond Street Hospital)

COL12A1 was created by anna.sarkozy