AGS2 is an inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis, caused by mutations in the RNASEH2B gene.
Diseases of the nervous system
Other degenerative diseases of the nervous system
Autosomal recessive
13q14.3
AGS2 is an inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis, caused by mutations in the RNASEH2B gene.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 610181.1 | Lebanon | Male | Developmental regression; Leukodystroph... Developmental regression; Leukodystrophy; Metachromatic leukodystrophy variant; Abnormal myelination  | NM_024570.3:c.529G>A | Homozygous | Autosomal, Recessive | Nair et al. 2018 | |||
| 610181.2 | Lebanon | Yes | Leukoencephalopathy; Microcephaly; Leuko... Leukoencephalopathy; Microcephaly; Leukodystrophy; Hepatosplenomegaly; Thrombocytopenia; Plagiocephaly | NM_024570.3:c.529G>A, NM_024570.4:c.239A>G | Homozygous | Autosomal, Recessive | Jalkh et al. 2019 | |||
| 610181.2.1 | Arab | Female | Microcephaly; Global developmental delay... Microcephaly; Global developmental delay; Intellectual disability; Spasticity; Brain atrophy; Abnormal cerebral white matter morphology; Seizure | NM_001142279.2:c.554T>G | Homozygous | Autosomal, Recessive | Al Mutairi et al. 2018 | |||
| 610181.2.G.1 | Arab | Microcephaly; Global developmental delay... Microcephaly; Global developmental delay; Intellectual disability; Spasticity; Brain atrophy; Cerebral calcification; Abnormal cerebral white matter morphology | NM_001142279.2:c.356A>G | Homozygous | Autosomal, Recessive | Al Mutairi et al. 2018 | Group of 10 unrelate... | |||
| 610181.2.G.2 | Arab | Male | Microcephaly; Global developmental delay... Microcephaly; Global developmental delay; Intellectual disability; Spasticity; Brain atrophy; Cerebral calcification; Abnormal cerebral white matter morphology; Seizure | NM_024570.3:c.529G>A | Homozygous | Autosomal, Recessive | Al Mutairi et al. 2018 | 2 unrelated Arab pat... |