Bilateral congenital or childhood onset cataracts
Gene: POMGNT1
POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-))
EnsemblGeneIds (GRCh38): ENSG00000085998
EnsemblGeneIds (GRCh37): ENSG00000085998
OMIM: 606822, Gene2Phenotype
POMGNT1 is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000085998
EnsemblGeneIds (GRCh37): ENSG00000085998
OMIM: 606822, Gene2Phenotype
POMGNT1 is in 19 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: We discussed and agreed internally that all genes within the Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) phenotypic series available on OMIM should be demoted to red, as it is unlikely that these conditions would present with cataracts as a main feature.Created: 27 Jun 2016, 4:28 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Other
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
- OMIM
- 606822
- Clinvar variants
- Variants in POMGNT1
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Cerebellar hypoplasia
- Likely inborn error of metabolism
- Retinal disorders
- Bilateral congenital or childhood onset cataracts
- Cerebral vascular malformations
- Undiagnosed metabolic disorders
- Arthrogryposis
- Dystonia, chorea or related movement disorder, childhood onset
- Ataxia and cerebellar anomalies - childhood onset
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Hydrocephalus
- Congenital disorders of glycosylation
- Fetal anomalies
- Structural eye disease
- Early onset or syndromic epilepsy
- DDG2P
- Malformations of cortical development
- Congenital muscular dystrophy
History Filter Activity
27 Jun 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
27 Jun 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
27 Jun 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)POMGNT1 was added to Cataractspanel. Sources: Other
27 Jun 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)POMGNT1 was created by ellenmcdonagh