Cerebellar hypoplasia
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Phenotypes
-
- Congenital Muscular Dystrophy, alpha-dystroglycan related
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
- OMIM
- 606822
- Clinvar variants
- Variants in POMGNT1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Cerebellar hypoplasia
- Early onset or syndromic epilepsy
- Cerebral vascular malformations
- Undiagnosed metabolic disorders
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Hydrocephalus
- Congenital disorders of glycosylation
- Arthrogryposis
- Intellectual disability
- Fetal anomalies
- Dystonia, chorea or related movement disorder, childhood onset
- Bilateral congenital or childhood onset cataracts
- Structural eye disease
- DDG2P
- Ataxia and cerebellar anomalies - childhood onset
- Retinal disorders
- Malformations of cortical development
- Congenital muscular dystrophy
History Filter Activity
22 Feb 2017, Gel status: 4
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)22/02/2017: Panel revised after internal clinical review and further curation.
21 Dec 2016, Gel status: 4
Set publications
Alice Gardham (Genomics England)Publications for POMGNT1 were set to 11709191, 15236414
16 Nov 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
14 Nov 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)POMGNT1 was added to Cerebellar hypoplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
14 Nov 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)POMGNT1 was created by ellenmcdonagh