Cerebellar hypoplasia
Gene: POMGNT2EnsemblGeneIds (GRCh38): ENSG00000144647
EnsemblGeneIds (GRCh37): ENSG00000144647
OMIM: 614828, Gene2Phenotype
POMGNT2 is in 17 panels
1 review
Alice Gardham (Genomics England)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type
- OMIM
- 614828
- Clinvar variants
- Variants in POMGNT2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Congenital disorders of glycosylation
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Cerebellar hypoplasia
- Retinal disorders
- Structural eye disease
- Malformations of cortical development
- Hydrocephalus
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
- Arthrogryposis
- Fetal anomalies
- Congenital muscular dystrophy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Bilateral congenital or childhood onset cataracts
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)22/02/2017: Panel revised after internal clinical review and further curation.
Set publications
Alice Gardham (Genomics England)Publications for POMGNT2 were set to 22958903
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for POMGNT2 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)POMGNT2 was added to Cerebellar hypoplasiapanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)POMGNT2 was created by ellenmcdonagh