Intellectual disability 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

0 reviews

Details

Sources

Victorian Clinical Genetics Services
Expert Review Green

OMIM

607423

Clinvar variants

Variants in POMT1

Penetrance

None

Panels with this gene

Cerebellar hypoplasia
Bilateral congenital or childhood onset cataracts
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Fetal anomalies
DDG2P
Cerebral vascular malformations
Ataxia and cerebellar anomalies - narrow panel
Undiagnosed metabolic disorders
Childhood onset dystonia, chorea or related movement disorder
Early onset or syndromic epilepsy
Hydrocephalus
Malformations of cortical development
Congenital muscular dystrophy
Likely inborn error of metabolism
Retinal disorders
Congenital disorders of glycosylation
Intellectual disability
Arthrogryposis
Structural eye disease
Clefting

History Filter Activity

12 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

POMT1 was added to Intellectual disability Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services