Shwachman-Diamond Syndrome 1(Lipomatosis of pancreas, congenital) Explore Disorder's Alias
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 | SBDS/51119 | SBDS ribosome maturation factor | 7q11.21 | Chr7, NC_000007.14 (66987680..66995586, complement) |
7907 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | SRP54/6729 | signal recognition particle 54 | 14q13.2 | Chr14, NC_000014.9 (34982992..35029567) |
46576 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | SRP19/6728 | signal recognition particle 19 | 5q22.2 | Chr5, NC_000005.10 (112861287..112898371) |
37085 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | SRPRA/6734 | SRP receptor subunit alpha | 11q24.2 | Chr11, NC_000011.10 (126235930..126268895, complement) |
32966 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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