Cerebral vascular malformations
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
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, 11:39 a.m.
Details
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Red
- UKGTN
- Phenotypes
-
- Cerebral Malformation Disorders
- OMIM
- 607423
- Clinvar variants
- Variants in POMT1
- Penetrance
- Complete
- Panels with this gene
-
- Structural eye disease
- Cerebellar hypoplasia
- Malformations of cortical development
- Early onset or syndromic epilepsy
- Congenital muscular dystrophy
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Arthrogryposis
- Fetal anomalies
- Hydrocephalus
- Bilateral congenital or childhood onset cataracts
- Intellectual disability
- Congenital disorders of glycosylation
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Cerebral vascular malformations
- Retinal disorders
- Ataxia and cerebellar anomalies - narrow panel
- Clefting
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 POMT1.
29 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to POMT1.
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: 1
Added New Source
Ellen McDonagh (Genomics England Curator)POMT1 was added to Cerebrovascular disorderspanel. Sources: UKGTN
9 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)POMT1 was created by ellenmcdonagh