Cerebellar hypoplasia
Gene: POMT2EnsemblGeneIds (GRCh38): ENSG00000009830
EnsemblGeneIds (GRCh37): ENSG00000009830
OMIM: 607439, Gene2Phenotype
POMT2 is in 19 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, 2 613150
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
- OMIM
- 607439
- Clinvar variants
- Variants in POMT2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Cerebellar hypoplasia
- Likely inborn error of metabolism
- Bilateral congenital or childhood onset cataracts
- Cerebral vascular malformations
- Undiagnosed metabolic disorders
- 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
- Arthrogryposis
- Clefting
- Fetal anomalies
- Structural eye disease
- Early onset or syndromic epilepsy
- DDG2P
- Malformations of cortical development
- Congenital muscular dystrophy
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 POMT2 were set to 15894594
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for POMT2 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).
Added New Source
Ellen McDonagh (Genomics England Curator)POMT2 was added to Cerebellar hypoplasiapanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)POMT2 was created by ellenmcdonagh