Hydrocephalus
Gene: POMGNT1EnsemblGeneIds (GRCh38): ENSG00000085998
EnsemblGeneIds (GRCh37): ENSG00000085998
OMIM: 606822, Gene2Phenotype
POMGNT1 is in 19 panels
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Helen Brittain (Genomics England Curator)
Sufficient cases for causation and hydrocephalus or ventricular dilatation is a common featureCreated: 9 May 2017, 1:23 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, OMIM:253280
- OMIM
- 606822
- Clinvar variants
- Variants in POMGNT1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Congenital muscular dystrophy
- Arthrogryposis
- Early onset or syndromic epilepsy
- Fetal anomalies
- Cerebellar hypoplasia
- Cerebral vascular malformations
- Undiagnosed metabolic disorders
- Malformations of cortical development
- DDG2P
- Ataxia and cerebellar anomalies - childhood onset
- Congenital disorders of glycosylation
- Intellectual disability
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Bilateral congenital or childhood onset cataracts
- Structural eye disease
- Hydrocephalus
- Retinal disorders
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: POMGNT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, OMIM:253280
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to POMGNT1.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)POMGNT1 was added to Hydrocephaluspanel. Source: Expert Review Green
Created
Helen Brittain (Genomics England Curator)POMGNT1 was created by helen.brittain
Added New Source
Helen Brittain (Genomics England Curator)POMGNT1 was added to Hydrocephaluspanel. Sources: Literature