Hydrocephalus_Ventriculomegaly
Gene: MAN2B1
MAN2B1 (mannosidase alpha class 2B member 1)
EnsemblGeneIds (GRCh38): ENSG00000104774
EnsemblGeneIds (GRCh37): ENSG00000104774
OMIM: 609458, Gene2Phenotype
MAN2B1 is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000104774
EnsemblGeneIds (GRCh37): ENSG00000104774
OMIM: 609458, Gene2Phenotype
MAN2B1 is in 19 panels
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Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 609458
- Clinvar variants
- Variants in MAN2B1
- Penetrance
- None
- Panels with this gene
-
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Prepair 1000+
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Hydrocephalus_Ventriculomegaly
- Macrocephaly_Megalencephaly
- Craniosynostosis
- Regression
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Cataract
- Syndromic Retinopathy
- Prepair 500+
History Filter Activity
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MAN2B1 was added gene: MAN2B1 was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MAN2B1 was set to Unknown