Gliomas are central nervous system neoplasms derived from glial cells and comprise astrocytomas, glioblastoma multiforme, oligodendrogliomas, ependymomas, and subependymomas. [From OMIM]
Neoplasms
Malignant neoplasms
Autosomal recessive
13q13.1
Gliomas are central nervous system neoplasms derived from glial cells and comprise astrocytomas, glioblastoma multiforme, oligodendrogliomas, ependymomas, and subependymomas. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 613029.1 | Saudi Arabia | Female | Yes | Yes | Glioma; Patent ductus arteriosus; Ectopi... Glioma; Patent ductus arteriosus; Ectopic kidney ; Vesicoureteral reflux; Hip dysplasia; Retinoblastoma ; Hypertension; Dysphagia ; Chromosomal breakage induced by ionizing radiation  | NM_000059.4:c.9152del | Homozygous | Autosomal, Recessive | Alazami et al. 2015; Shaheen et al. 2019 | |
| 613029.2 | Saudi Arabia | Female | No | Yes | CNS hypomyelination; Abnormal corpus cal... CNS hypomyelination; Abnormal corpus callosum morphology; Abnormal cortical gyration; Mild malformation of cortical development; Chromosomal breakage induced by ionizing radiation; Anorectal anomaly; Global developmental delay; Neuroblastoma; Mixed hypo- and hyperpigmentation of the skin | NM_000059.4:c.7007G>A | Homozygous | Autosomal, Recessive | Shaheen et al. 2019 |