Structural eye disease
Gene: POMT1EnsemblGeneIds (GRCh38): ENSG00000130714
EnsemblGeneIds (GRCh37): ENSG00000130714
OMIM: 607423, Gene2Phenotype
POMT1 is in 20 panels
3 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Bernabe 3 families with microphthalmia among 7 families with Walker-Warburg syndrome, one with homozygous missense, one with homozygous nonsense, one with compound het missense/frameshift. Three other families described have buphthalmos, lens opacities and/or cataracts. All variants segregate. Kim one case with microphthalmia with homozygous in-frame deletion.Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91
DB Bernabe 2 families, Kim one familyCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mariya Moosajee (Moorfields Eye Hospital)
Phenotypes
Muscular Dystrophy-Dystroglycanopathy, Type A, MDDGA1
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Bernabe 2 families, Kim one familyCreated: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- London North GLH
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670
- OMIM
- 607423
- Clinvar variants
- Variants in POMT1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Retinal disorders
- DDG2P
- Cerebellar hypoplasia
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Clefting
- Cerebral vascular malformations
- Malformations of cortical development
- Bilateral congenital or childhood onset cataracts
- Congenital disorders of glycosylation
- Likely inborn error of metabolism
- Hydrocephalus
- Ataxia and cerebellar anomalies - narrow panel
- Structural eye disease
- Arthrogryposis
- Early onset or syndromic epilepsy
- Fetal anomalies
- Undiagnosed metabolic disorders
- Congenital muscular dystrophy
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set publications
Ivone Leong (Genomics England Curator)Publications for gene POMT1 were changed from 15037715; 12369018 to 12369018; 15037715
Added New Source
Ivone Leong (Genomics England Curator)Source London North GLH was added to POMT1.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: POMT1 was added gene: POMT1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMT1 were set to 15037715; 12369018 Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670