Warburg Micro Syndrome(Micro syndrome) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Neurodevelopmental disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Neurodevelopmental 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 | RAB3GAP1/22930 | RAB3 GTPase activating protein catalytic subunit 1 | 2q21.3 | Chr2, NC_000002.12 (135052292..135176396) |
124105 nt | 29 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
2 | RAB18/22931 | RAB18, member RAS oncogene family | 10p12.1 | Chr10, NC_000010.11 (27504304..27542239) |
37936 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
3 | RAB3GAP2/25782 | RAB3 GTPase activating non-catalytic protein subunit 2 | 1q41 | Chr1, NC_000001.11 (220148293..220272453, complement) |
124161 nt | 35 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
4 | TBC1D20/128637 | TBC1 domain family member 20 | 20p13 | Chr20, NC_000020.11 (435480..462533, complement) |
27054 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
Variant Information | ||||||||
Disorder Cross-References: GARD GTR MalaCards NORD |
Patient care services
Clinical Symptoms & Disabilities
Prevalence
Under development |