Bilateral congenital or childhood onset cataracts
Gene: POMT1EnsemblGeneIds (GRCh38): ENSG00000130714
EnsemblGeneIds (GRCh37): ENSG00000130714
OMIM: 607423, Gene2Phenotype
POMT1 is in 20 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
muscular dystrophy-dystroglycanopathy (MDDG)
Publications
- Chiara Manzini et al (2008) Hum Mutat 29:E231-E241
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: We discussed and agreed internally that all genes within the Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) phenotypic series available on OMIM should be demoted to red, as it is unlikely that these conditions would present with cataracts as a main feature.Created: 27 Jun 2016, 4:26 p.m.
Is on the Manchester congenital cataracts gene panel. It is a confirmed DD gene for Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B1 (which include cataract as a phenotype).
Created: 29 Apr 2016, 1:41 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- UKGTN
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A1
- muscular dystrophy-dystroglycanopathy (MDDG)
- OMIM
- 607423
- Clinvar variants
- Variants in POMT1
- Penetrance
- Complete
- Publications
-
- Chiara Manzini et al (2008) Hum Mutat 29:E231-E241
- Panels with this gene
-
- Early onset or syndromic epilepsy
- DDG2P
- Cerebellar hypoplasia
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Intellectual disability
- Clefting
- Cerebral vascular malformations
- Malformations of cortical development
- Bilateral congenital or childhood onset cataracts
- Congenital disorders of glycosylation
- Retinal disorders
- Likely inborn error of metabolism
- Hydrocephalus
- Ataxia and cerebellar anomalies - narrow panel
- Structural eye disease
- Arthrogryposis
- Fetal anomalies
- Undiagnosed metabolic disorders
- Congenital muscular dystrophy
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A1;muscular dystrophy-dystroglycanopathy (MDDG)
Set publications
Ellen McDonagh (Genomics England Curator)Publications for POMT1 were set to Chiara Manzini et al (2008) Hum Mutat 29:E231-E241
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A1
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for POMT1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()POMT1 was added to Cataractspanel. Sources: UKGTN