This Panel is marked as Deleted
Epileptic encephalopathy Victorian Clinical Genetics Services
Gene: POMGNT1
POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-))
EnsemblGeneIds (GRCh38): ENSG00000085998
EnsemblGeneIds (GRCh37): ENSG00000085998
OMIM: 606822, Gene2Phenotype
POMGNT1 is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000085998
EnsemblGeneIds (GRCh37): ENSG00000085998
OMIM: 606822, Gene2Phenotype
POMGNT1 is in 19 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 606822
- Clinvar variants
- Variants in POMGNT1
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Cerebellar hypoplasia
- DDG2P
- Cerebral vascular malformations
- Intellectual disability
- Ataxia and cerebellar anomalies - narrow panel
- Undiagnosed metabolic disorders
- Structural eye disease
- Childhood onset dystonia, chorea or related movement disorder
- Malformations of cortical development
- Hydrocephalus
- Bilateral congenital or childhood onset cataracts
- Fetal anomalies
- Arthrogryposis
- Retinal disorders
- Early onset or syndromic epilepsy
- Congenital disorders of glycosylation
- Congenital muscular dystrophy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)POMGNT1 was added to Epileptic encephalopathy Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)POMGNT1 was created by Sarah Leigh