TEST Undiagnosed metabolic disorders
Gene: POMT2

POMT2 (protein O-mannosyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000009830
EnsemblGeneIds (GRCh37): ENSG00000009830
OMIM: 607439, Gene2Phenotype
POMT2 is in 19 panels

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Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature

OMIM

607439

Clinvar variants

Variants in POMT2

Penetrance

None

Publications

27604308

Panels with this gene

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

History Filter Activity

20 Aug 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications

Sarah Leigh (Genomics England Curator)

gene: POMT2 was added gene: POMT2 was added to TEST Undiagnosed metabolic disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMT2 were set to 27604308

TEST Undiagnosed metabolic disorders Gene: POMT2

0 reviews

Details

History Filter Activity

Created, Added New Source, Set mode of inheritance, Set publications

TEST Undiagnosed metabolic disorders
Gene: POMT2