Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: POMT2EnsemblGeneIds (GRCh38): ENSG00000009830
EnsemblGeneIds (GRCh37): ENSG00000009830
OMIM: 607439, Gene2Phenotype
POMT2 is in 19 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Listed as associated with Limb Girdle Muscular Dystrophy by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 8:26 a.m.
Ellen Thomas (Genomics England Curator)
Comment on list classification: Causes a spectrum of muscular disorders; LGMD phenotype is at the mild end.Created: 29 May 2016, 2:36 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Limb-Girdle Muscular Dystrophy, Recessive
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
- Limb-girdle muscular dystrophy
- OMIM
- 607439
- Clinvar variants
- Variants in POMT2
- Penetrance
- Complete
- Panels with this gene
-
- Congenital muscular dystrophy
- Arthrogryposis
- Early onset or syndromic epilepsy
- Fetal anomalies
- Cerebellar hypoplasia
- Cerebral vascular malformations
- Undiagnosed metabolic disorders
- Malformations of cortical development
- DDG2P
- Ataxia and cerebellar anomalies - childhood onset
- Congenital disorders of glycosylation
- Intellectual disability
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Clefting
- Bilateral congenital or childhood onset cataracts
- Structural eye disease
- Hydrocephalus
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene POMT2 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)POMT2 was added to Limb girdle muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene POMT2 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)POMT2 was added to Limb girdle muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)POMT2 was added to Limb girdle muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen