This Panel is marked as Deleted
Microcephaly Victorian Clinical Genetics Services
Gene: POMT1
POMT1 (protein O-mannosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000130714
EnsemblGeneIds (GRCh37): ENSG00000130714
OMIM: 607423, Gene2Phenotype
POMT1 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000130714
EnsemblGeneIds (GRCh37): ENSG00000130714
OMIM: 607423, Gene2Phenotype
POMT1 is in 20 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 607423
- Clinvar variants
- Variants in POMT1
- Penetrance
- None
- 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
- 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
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- DDG2P
- Early onset or syndromic epilepsy
- Congenital muscular dystrophy
History Filter Activity
21 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)POMT1 was added to Microcephaly Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
21 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)POMT1 was created by Sarah Leigh