Structural eye disease
Gene: POMT2EnsemblGeneIds (GRCh38): ENSG00000009830
EnsemblGeneIds (GRCh37): ENSG00000009830
OMIM: 607439, Gene2Phenotype
POMT2 is in 19 panels
3 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Van Reeuwijk, three families with Walker-Warburg syndrome, one case with Peter's anomaly, congenital cataract and microphthalmia and homozygous nonsense variant. The other cases had congenital cataract (homozygous splice site variant) and cataract/buphthalmos (homozygous frameshift). Nabhan family of four diseased siblings with Walker/Warburg syndrome, oldest sibling had microphthalmia, all siblings have homozygous missense.Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91
DB Van Reeuwijk: one family. Nabhan one family.Created: 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, 2
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mariya Moosajee (Moorfields Eye Hospital)
Phenotypes
Muscular Dystrophy-Dystroglycanopathy, Type A, 2, MDDGA2
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Van Reeuwijk: one family. Nabhan one family.Created: 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, 2
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- London North GLH
- NHS GMS
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150
- OMIM
- 607439
- Clinvar variants
- Variants in POMT2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Early onset or syndromic epilepsy
- DDG2P
- Cerebellar hypoplasia
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Intellectual disability
- 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
- Fetal anomalies
- Undiagnosed metabolic disorders
- Congenital muscular dystrophy
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source, Set publications, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to POMT2. Publications for gene POMT2 were changed from 28815891; 15894594 to 15894594; 28815891 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added New Source
Ivone Leong (Genomics England Curator)Source London North GLH was added to POMT2.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: POMT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: POMT2 was added gene: POMT2 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMT2 were set to 28815891; 15894594 Phenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2