Hermansky-Pudlak Syndrome 1(Storage pool disease of platelets)
An Autosomal recessive mode(s) within the Multisystemic disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Multisystemic 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 | HPS1/3257 | HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | 10q24.2 | Chr10, NC_000010.11 (98413948..98446935, complement) |
32988 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | AP3D1/8943 | adaptor related protein complex 3 subunit delta 1 | 19p13.3 | Chr19, NC_000019.10 (2100988..2164616, complement) |
63629 nt | 33 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | BLOC1S5/63915 | biogenesis of lysosomal organelles complex 1 subunit 5 | 6p24.3 | Chr6, NC_000006.12 (8013567..8064414, complement) |
50848 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | ETV6/2120 | ETS variant transcription factor 6 | 12p13.2 | Chr12, NC_000012.12 (11649674..11895377) |
245704 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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Clinical Symptoms & Disabilities