Pontocerebellar hypoplasia type 1
An Autosomal recessive mode(s) within the Neuromuscular disorders category
Pathogenic
1
Pathogenic/Likely pathogenic
1
| Variant name | Variant type | Phenotype | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) | Single nucleotide variant |
Hypotonia Congenital pontocerebellar hypoplasia type 1 Inborn genetic diseases not provided Pontocerebellar hypoplasia type 1B Abnormality of the nervous system See cases |
Pathogenic | missense variant | rs141138948 |
.Lifecell International Pvt. Ltd |
| NM_003384.3(VRK1):c.1159+1G>A | Single nucleotide variant |
Pontocerebellar hypoplasia type 1A Neuronopathy, distal hereditary motor, autosomal recessive 10 not provided |
Pathogenic/Likely pathogenic | splice donor variant | rs774877872 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
Graph displaying all Indian institutes, the rare genetic disorders they studied, and the variants submitted to ClinVar