Congenital muscular dystrophy

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 9 panels

3 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 29 Apr 2019, 3:37 p.m.

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

PMID:24334604 - 2 brothers were homozygous for a variant, with heterozygous parents with milder symptoms, and a boy from a seperate family with a de novo heterozygous variant reported. COL12A1 inactivated gene in mouse model showed decreased grip strength, delay in fiber-type transition and deficiency in passive force generation; PMID: 27348394 - heterozygous variant identified in affected proband with profound hypotonia and joint hyperlaxity at birth after a pregnancy complicated by oligohydramnios and intrauterine growth retardation. The variant was not present in mother but unable to confirm that it was de novo and absent in the father; PMID:24334769 - two families reported with autosomal dominant variant segregating with Bethlem myopathy.
Created: 29 Apr 2019, 3:27 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2

Publications

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

Emma Clement (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Ullrich congenital muscular dystrophy 2, bethlem myopathy 2

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ullrich congenital muscular dystrophy 2
  • Bethlem myopathy 2
OMIM
120320
Clinvar variants
Variants in COL12A1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene COL12A1 were changed from 24334604 - 2 brothers were homozygous for a variant, with heterozygous parents with milder symptoms, and a boy from a seperate family with a de novo heterozygous variant reported. COL12A1 inactivated gene in mouse model showed decreased grip strength, delay in fiber-type transition and deficiency in passive force generation; 27348394 - heterozygous variant identified in affected proband with profound hypotonia and joint hyperlaxity at birth after a pregnancy complicated by oligohydramnios and intrauterine growth retardation. The variant was not present in mother but unable to confirm that it was de novo and absent in the father; 24334769 - two families reported with autosomal dominant variant segregating with Bethlem myopathy. to 24334769; 24334604; 27348394

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to COL12A1.

29 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)

27 Jan 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27.01.2017 Panel revised after expert review and internal review with further curation.

5 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

5 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

5 Jan 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COL12A1 were set to 24334604 - 2 brothers were homozygous for a variant, with heterozygous parents with milder symptoms, and a boy from a seperate family with a de novo heterozygous variant reported. COL12A1 inactivated gene in mouse model showed decreased grip strength, delay in fiber-type transition and deficiency in passive force generation; 27348394 - heterozygous variant identified in affected proband with profound hypotonia and joint hyperlaxity at birth after a pregnancy complicated by oligohydramnios and intrauterine growth retardation. The variant was not present in mother but unable to confirm that it was de novo and absent in the father;24334769 - two families reported with autosomal dominant variant segregating with Bethlem myopathy.

5 Jan 2017, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for COL12A1 were set to Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2

5 Jan 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COL12A1 were set to 24334604 - 2 brothers were homozygous for a variant, with heterozygous parents with milder symptoms, and a boy from a seperate family with a de novo heterozygous variant reported. COL12A1 inactivated gene in mouse model showed decreased grip strength, delay in fiber-type transition and deficiency in passive force generation; 27348394 - heterozygous variant identified in affected proband with profound hypotonia and joint hyperlaxity at birth after a pregnancy complicated by oligohydramnios and intrauterine growth retardation. The variant was not present in mother but unable to confirm that it was de novo and absent in the father.

5 Jan 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COL12A1 were set to 24334604 - 2 brothers were homozygous for a variant, with heterozygous parents with milder symptoms, and a boy from a seperate family with a de novo heterozygous variant reported. COL12A1 inactivated gene in mouse model showed decreased grip strength, delay in fiber-type transition and deficiency in passive force generation; 27348394

5 Jan 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COL12A1 were set to 24334604 - 2 brothers were homozygous for a variant, with heterozygous parents with milder symptoms, and a boy from a seperate family with a de novo heterozygous variant reported. COL12A1 inactivated gene in mouse model showed decreased grip strength, delay in fiber-type transition and deficiency in passive force generation.

5 Jan 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COL12A1 were set to 24334604 - 2 brothers were homozygous for a variant, with heterozygous parents with milder symptoms, and a boy from a seperate family with a de novo heterozygous variant reported.

5 Jan 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COL12A1 were set to 24334604 - 2 brothers were homozygous for a variant, with heterozygous parents with milder symptoms, and a boy from a seperate family with a de novo heterozygous variant reported.

19 Dec 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

19 Dec 2016, Gel status: 0

Added New Source

Emma Clement (Great Ormond Street Hospital)

COL12A1 was added to Congenital muscular dystrophypanel. Sources: Expert Review

19 Dec 2016, Gel status: 0

Created

Emma Clement (Great Ormond Street Hospital)

COL12A1 was created by eclement