Zimmermann-Laband Syndrome(Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Multisystemic disorders category
Candidate Gene Information
An Autosomal dominant 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 | KCNH1/3756 | potassium voltage-gated channel subfamily H member 1 | 1q32.2 | Chr1, NC_000001.11 (210678314..211134148, complement) |
455835 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | ATP6V1B2/526 | ATPase H+ transporting V1 subunit B2 | 8p21.3 | Chr8, NC_000008.11 (20197381..20221696) |
24316 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | KCNN3/3782 | potassium calcium-activated channel subfamily N member 3 | 1q21.3 | Chr1, NC_000001.11 (154697455..154870281, complement) |
172827 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GARD GTR MalaCards NORD | ||||||||
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Clinical Symptoms & Disabilities