Malformations of cortical development
Gene: POMT2EnsemblGeneIds (GRCh38): ENSG00000009830
EnsemblGeneIds (GRCh37): ENSG00000009830
OMIM: 607439, Gene2Phenotype
POMT2 is in 19 panels
2 reviews
Alice Gardham (Genomics England)
Comment when marking as ready: recognised on G2PCreated: 15 Dec 2016, 4:29 p.m.
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
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150
- Type 2 lissencephaly
- OMIM
- 607439
- Clinvar variants
- Variants in POMT2
- Penetrance
- Complete
- Panels with this gene
-
- Cerebellar hypoplasia
- Likely inborn error of metabolism
- Early onset or syndromic epilepsy
- Bilateral congenital or childhood onset cataracts
- Intellectual disability
- Cerebral vascular malformations
- Undiagnosed metabolic disorders
- Clefting
- Ataxia and cerebellar anomalies - childhood onset
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Hydrocephalus
- Congenital disorders of glycosylation
- Malformations of cortical development
- Dystonia, chorea or related movement disorder, childhood onset
- Structural eye disease
- DDG2P
- Congenital muscular dystrophy
- Fetal anomalies
- Arthrogryposis
History Filter Activity
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for POMT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150;Type 2 lissencephaly
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for POMT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150
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)POMT2 was added to Malformations of cortical developmentpanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Created
Usha Kini (Oxford Centre for Genomic Medicine)POMT2 was created by Ushak
Added New Source
Usha Kini (Oxford Centre for Genomic Medicine)POMT2 was added to Malformations of cortical developmentpanel. Sources: Expert Review