Pigmentary pallidal degeneration
An Autosomal recessive mode(s) within the Neurodegenerative disorders category
Likely pathogenic
4
Pathogenic/Likely pathogenic
1
Uncertain significance
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_001386393.1(PANK2):c.8dup (p.Leu5fs) | Duplication | Chr20:3889432 - 3889433 | Likely pathogenic | 5 prime UTR variant|frameshift variant|initiator_codon_variant|non-coding transcript variant|intron variant | rs529267374 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met) | Single nucleotide variant | Chr20:3918717 | Pathogenic/Likely pathogenic | Missense variant|non-coding transcript variant | rs137852967 |
.Human Genetics Research Lab, Central University of Jammu |
| NM_001386393.1(PANK2):c.1009G>T (p.Asp337Tyr) | Single nucleotide variant | Chr20:3912561 | Likely pathogenic | Missense variant|non-coding transcript variant | rs2515506277 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_001386393.1(PANK2):c.1189del (p.Met397fs) | Deletion | Chr20:3917032 | Likely pathogenic | Frameshift variant|non-coding transcript variant | rs2515522749 |
.Lifecell International Pvt. Ltd |
| NM_001386393.1(PANK2):c.322A>C (p.Ile108Leu) | Single nucleotide variant | Chr20:3907949 | Uncertain significance | 5 prime UTR variant|missense variant|non-coding transcript variant | rs188211202 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_001386393.1(PANK2):c.*40G>C | Single nucleotide variant | Chr20:3923334 | Likely pathogenic | 3 prime UTR variant|non-coding transcript variant | rs1131692166 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution