Pelizaeus-Merzbacher Disease(Diffuse familial brain sclerosis) Explore Disorder's Alias
An X-linked recessive mode(s) within the Neurodegenerative disorders category
Candidate Gene Information
An X-linked 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 | PLP1/5354 | proteolipid protein 1 | Xq22.2 | ChrX, NC_000023.11 (103776506..103792619) |
16114 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | GJC2/57165 | gap junction protein gamma 2 | 1q42.13 | Chr1, NC_000001.11 (228149930..228159826) |
9897 nt | 2 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD | ||||||||
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Clinical Symptoms & Disabilities