Congenital ophthalmoplegia
Gene: GBA
GBA (glucosylceramidase beta)
EnsemblGeneIds (GRCh38): ENSG00000177628
EnsemblGeneIds (GRCh37): ENSG00000177628
OMIM: 606463, Gene2Phenotype
GBA is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000177628
EnsemblGeneIds (GRCh37): ENSG00000177628
OMIM: 606463, Gene2Phenotype
GBA is in 23 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association. Cranial nerve involvement is common and can manifest as convergent squint, strabismus, ocular paresis, oculomotor apraxia.
Sources: Expert listCreated: 11 Nov 2020, 1:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gaucher disease, type II, MIM# 230900
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Gaucher disease, type II, MIM# 230900
- OMIM
- 606463
- Clinvar variants
- Variants in GBA
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cholestasis
- Pulmonary Fibrosis_Interstitial Lung Disease
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Hydrops fetalis
- Metal Metabolism Disorders
- Intellectual disability syndromic and non-syndromic
- Congenital ophthalmoplegia
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Genetic Epilepsy
- Early-onset Parkinson disease
- Regression
- Incidentalome
- Early-onset Dementia
- Fetal anomalies
- Additional findings_Paediatric
- Dystonia - complex
- Arthrogryposis
- Cerebral Palsy
History Filter Activity
11 Nov 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gba has been classified as Green List (High Evidence).
11 Nov 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gba has been classified as Green List (High Evidence).
11 Nov 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GBA was added gene: GBA was added to Congenital ophthalmoplegia. Sources: Expert list Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GBA were set to Gaucher disease, type II, MIM# 230900 Review for gene: GBA was set to GREEN