Cerebral vascular malformations
Gene: POMT2
POMT2 (protein O-mannosyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000009830
EnsemblGeneIds (GRCh37): ENSG00000009830
OMIM: 607439, Gene2Phenotype
POMT2 is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000009830
EnsemblGeneIds (GRCh37): ENSG00000009830
OMIM: 607439, Gene2Phenotype
POMT2 is in 19 panels
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: Not associated with cerebral vascular malformationsCreated: 12 Dec 2016, 11:40 a.m.
Not associated with cerebral vascular malformationsCreated: 12 Dec 2016, 11:40 a.m.
Details
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Red
- UKGTN
- Phenotypes
-
- Cerebral Malformation Disorders
- OMIM
- 607439
- Clinvar variants
- Variants in POMT2
- Penetrance
- Complete
- Panels with this gene
-
- Clefting
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Intellectual disability
- Likely inborn error of metabolism
- Cerebellar hypoplasia
- Undiagnosed metabolic disorders
- Congenital disorders of glycosylation
- Fetal anomalies
- Cerebral vascular malformations
- Structural eye disease
- Hydrocephalus
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Bilateral congenital or childhood onset cataracts
- Ataxia and cerebellar anomalies - narrow panel
- Arthrogryposis
- Malformations of cortical development
- Congenital muscular dystrophy
- Early onset or syndromic epilepsy
History Filter Activity
29 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to POMT2.
29 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to POMT2.
19 Dec 2016, Gel status: 1
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on the 19th December 2016
12 Dec 2016, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
9 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)POMT2 was created by ellenmcdonagh
9 Dec 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)POMT2 was added to Cerebrovascular disorderspanel. Sources: UKGTN