Structural eye disease
Gene: POMGNT1EnsemblGeneIds (GRCh38): ENSG00000085998
EnsemblGeneIds (GRCh37): ENSG00000085998
OMIM: 606822, Gene2Phenotype
POMGNT1 is in 19 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Demir reported case with muscle-eye-brain disease and homozygous missense - heterozygous in parents. Hanemaaijer reported de novo microduplication involving POMGNT1 among other genes in patient with coloboma and microcephaly. Lu: homozygous deletion of exon18-19 in case with microphthalmia, heterozygous in parents. Yoshida reported two cases with microphthalmia, one with compound het missense/frameshift, segregation not reported, and one with homozygous splice site variant. Borisovna reported a patient with optic nerve dysplasia compound heterozygous for splice site & missense variant segregating in parents. Borisovna et al reported case with optic atrophy and a heterozygous splice site variant/missense variants segregating in the parents.Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91
Publications
Mariya Moosajee (Moorfields Eye Hospital)
Phenotypes
Muscular Dystrophy-Dystroglycanopathy, Type A, 3, MDDGA3
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- London North GLH
- Phenotypes
-
- Muscular Dystrophy-Dystroglycanopathy, Type A, 3, MDDGA3, 253280
- OMIM
- 606822
- Clinvar variants
- Variants in POMGNT1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Structural eye disease
- Cerebellar hypoplasia
- Malformations of cortical development
- Congenital muscular dystrophy
- Ataxia and cerebellar anomalies - narrow panel
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Congenital disorders of glycosylation
- Intellectual disability
- Hydrocephalus
- DDG2P
- Bilateral congenital or childhood onset cataracts
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Cerebral vascular malformations
- Retinal disorders
- Early onset or syndromic epilepsy
- Arthrogryposis
- Fetal anomalies
History Filter Activity
Added New Source, Added New Source, Set publications, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to POMGNT1. Source NHS GMS was added to POMGNT1. Publications for gene POMGNT1 were changed from to 0961548; 19452620; 28765568; 11709191; 19679478 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Amber was added to POMGNT1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: POMGNT1 was added gene: POMGNT1 was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMGNT1 were set to Muscular Dystrophy-Dystroglycanopathy, Type A, 3, MDDGA3, 253280