Clefting
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
Louise Daugherty (Genomics England Curator)
Comment on publications: Only 1 case clefting. Clefting not a key feature.Created: 31 May 2017, 2:54 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670
- OMIM
- 607423
- Clinvar variants
- Variants in POMT1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Congenital muscular dystrophy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Ataxia and cerebellar anomalies - narrow panel
- Bilateral congenital or childhood onset cataracts
- Intellectual disability
- Undiagnosed metabolic disorders
- Congenital disorders of glycosylation
- Fetal anomalies
- Childhood onset dystonia, chorea or related movement disorder
- Cerebellar hypoplasia
- Retinal disorders
- Clefting
- Structural eye disease
- Cerebral vascular malformations
- DDG2P
- Malformations of cortical development
- Hydrocephalus
- Likely inborn error of metabolism
- Early onset or syndromic epilepsy
- Arthrogryposis
History Filter Activity
31 May 2017, Gel status: 0
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
31 May 2017, Gel status: 0
Set publications
Louise Daugherty (Genomics England Curator)Publications for POMT1 were set to 12369018
31 May 2017, Gel status: 0
Added New Source
Louise Daugherty (Genomics England Curator)POMT1 was added to Cleftingpanel. Sources: Expert list
31 May 2017, Gel status: 0
Created
Louise Daugherty (Genomics England Curator)POMT1 was created by LouiseD