Hypomyelinating Leukodystrophy 11(POLR3-Related Leukodystrophy) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Neurodegenerative disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Neurodegenerative disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | POLR1C/9533 | RNA polymerase I and III subunit C | 6p21.1 | Chr6, NC_000006.12 (43517089..43562407) |
45319 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | SLC35B2/347734 | solute carrier family 35 member B2 | 6p21.1 | Chr6, NC_000006.12 (44254101..44257890, complement) |
3790 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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Clinical Symptoms & Disabilities