Congenital muscular dystrophy
Gene: COL12A1EnsemblGeneIds (GRCh38): ENSG00000111799
EnsemblGeneIds (GRCh37): ENSG00000111799
OMIM: 120320, Gene2Phenotype
COL12A1 is in 8 panels
3 reviews
Louise Daugherty (Genomics England Curator)
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)
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)
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
-
- NHS GMS
- London South GLH
- 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
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
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to COL12A1.
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)
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27.01.2017 Panel revised after expert review and internal review with further curation.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
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.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for COL12A1 were set to Ullrich congenital muscular dystrophy 2;Bethlem myopathy 2
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.
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
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.
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.
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.
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
Added New Source
Emma Clement (Great Ormond Street Hospital)COL12A1 was added to Congenital muscular dystrophypanel. Sources: Expert Review
Created
Emma Clement (Great Ormond Street Hospital)COL12A1 was created by eclement