Malformations of cortical development
Gene: POMT1EnsemblGeneIds (GRCh38): ENSG00000130714
EnsemblGeneIds (GRCh37): ENSG00000130714
OMIM: 607423, Gene2Phenotype
POMT1 is in 20 panels
2 reviews
Alice Gardham (Genomics England)
Usha Kini (Oxford Centre for Genomic Medicine)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Type 2 lissencephaly
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670
- Type 2 lissencephaly
- OMIM
- 607423
- Clinvar variants
- Variants in POMT1
- Penetrance
- Complete
- Panels with this gene
-
- Congenital disorders of glycosylation
- Clefting
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Childhood onset dystonia, chorea or related movement disorder
- Cerebellar hypoplasia
- Undiagnosed metabolic disorders
- Intellectual disability
- Ataxia and cerebellar anomalies - narrow panel
- Retinal disorders
- Cerebral vascular malformations
- Arthrogryposis
- Malformations of cortical development
- Structural eye disease
- Hydrocephalus
- Fetal anomalies
- Likely inborn error of metabolism
- Bilateral congenital or childhood onset cataracts
- DDG2P
- Early onset or syndromic epilepsy
- Congenital muscular dystrophy
History Filter Activity
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670;Type 2 lissencephaly
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Upload gene information
Alice Gardham (Genomics England)POMT1 was added to Malformations of cortical developmentpanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Added New Source
Usha Kini (Oxford Centre for Genomic Medicine)POMT1 was added to Malformations of cortical developmentpanel. Sources: Expert Review
Created
Usha Kini (Oxford Centre for Genomic Medicine)POMT1 was created by Ushak