Congenital muscular dystrophy and congenital myopathy
Gene: POMT1EnsemblGeneIds (GRCh38): ENSG00000130714
EnsemblGeneIds (GRCh37): ENSG00000130714
OMIM: 607423, Gene2Phenotype
POMT1 is in 20 panels
4 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)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA,1 236670: type B,1, 613155
Publications
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: Green review and >3 cases/families reported. Confirmed DD gene for MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B1 and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C1.Created: 24 Jan 2017, 4:44 p.m.
Emma Clement (Great Ormond Street Hospital)
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- London South GLH
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- NHS GMS
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, OMIM:236670
- Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1, OMIM:613155
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, OMIM:609308
- OMIM
- 607423
- Clinvar variants
- Variants in POMT1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Congenital disorders of glycosylation
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Childhood onset dystonia, chorea or related movement disorder
- Cerebellar hypoplasia
- Clefting
- Undiagnosed metabolic disorders
- Structural eye disease
- Ataxia and cerebellar anomalies - narrow panel
- Cerebral vascular malformations
- Arthrogryposis
- Malformations of cortical development
- Hydrocephalus
- Retinal disorders
- Likely inborn error of metabolism
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Early onset or syndromic epilepsy
- Fetal anomalies
- DDG2P
- Congenital muscular dystrophy
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: POMT1 was added gene: POMT1 was added to Congenital muscular dystrophy and congenital myopathy. Sources: NHS GMS,UKGTN,Emory Genetics Laboratory,Expert Review Green,Radboud University Medical Center, Nijmegen,London South GLH Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMT1 were set to 12369018 Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, OMIM:236670; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1, OMIM:613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, OMIM:609308 Penetrance for gene: POMT1 were set to Complete