Frontotemporal Dementia(FTD) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Neurodegenerative disorders category
Candidate Gene Information
An Autosomal dominant 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 | CHMP2B/25978 | charged multivesicular body protein 2B | 3p11.2 | Chr3, NC_000003.12 (87227309..87255556) |
28248 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
2 | TARDBP/23435 | TAR DNA binding protein | 1p36.22 | Chr1, NC_000001.11 (11012654..11030528) |
17875 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
3 | MAPT/4137 | microtubule associated protein tau | 17q21.31 | Chr17, NC_000017.11 (45894554..46028334) |
133781 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
4 | PSEN1/5663 | presenilin 1 | 14q24.2 | Chr14, NC_000014.9 (73136417..73223691) |
87275 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
5 | VCP/7415 | valosin containing protein | 9p13.3 | Chr9, NC_000009.12 (35056064..35072625, complement) |
16562 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
6 | C9orf72/203228 | C9orf72-SMCR8 complex subunit | 9p21.2 | Chr9, NC_000009.12 (27546546..27573866, complement) |
27321 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
7 | CHCHD10/400916 | coiled-coil-helix-coiled-coil-helix domain containing 10 | 22q11.23 | Chr22, NC_000022.11 (23765834..23767972, complement) |
2139 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
8 | SQSTM1/8878 | sequestosome 1 | 5q35.3 | Chr5, NC_000005.10 (179806393..179838078) |
31686 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
9 | TBK1/29110 | TANK binding kinase 1 | 12q14.2 | Chr12, NC_000012.12 (64452120..64502114) |
49995 nt | 22 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
10 | GRN/2896 | granulin precursor | 17q21.31 | Chr17, NC_000017.11 (44345302..44353106) |
7805 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
11 | MEF2C/4208 | myocyte enhancer factor 2C | 5q14.3 | Chr5, NC_000005.10 (88717117..88904105, complement) |
186989 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
12 | CSF1R/1436 | colony stimulating factor 1 receptor | 5q32 | Chr5, NC_000005.10 (150053295..150113365, complement) |
60071 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
13 | VPS13C/54832 | vacuolar protein sorting 13 homolog C | 15q22.2 | Chr15, NC_000015.10 (61852389..62060447, complement) |
208059 nt | 88 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
14 | ABCA7/10347 | ATP binding cassette subfamily A member 7 | 19p13.3 | Chr19, NC_000019.10 (1040107..1065572) |
25466 nt | 48 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
15 | KIF5A/3798 | kinesin family member 5A | 12q13.3 | Chr12, NC_000012.12 (57550044..57586633) |
36590 nt | 29 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
16 | CCNF/899 | cyclin F | 16p13.3 | Chr16, NC_000016.10 (2429447..2458854) |
29408 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
17 | CYLD/1540 | CYLD lysine 63 deubiquitinase | 16q12.1 | Chr16, NC_000016.10 (50742086..50801935) |
59850 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
18 | TREM2/54209 | triggering receptor expressed on myeloid cells 2 | 6p21.1 | Chr6, NC_000006.12 (41158508..41163116, complement) |
4609 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
19 | HNRNPA2B1/3181 | heterogeneous nuclear ribonucleoprotein A2/B1 | 7p15.2 | Chr7, NC_000007.14 (26189927..26200746, complement) |
10820 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
20 | OPTN/10133 | optineurin | 10p13 | Chr10, NC_000010.11 (13100082..13138308) |
38227 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
21 | CHRNB4/1143 | cholinergic receptor nicotinic beta 4 subunit | 15q25.1 | Chr15, NC_000015.10 (78624111..78661641, complement) |
37531 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
22 | GLT8D1/55830 | glycosyltransferase 8 domain containing 1 | 3p21.1 | Chr3, NC_000003.12 (52694486..52705791, complement) |
11306 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
Variant Information | ||||||||
Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD |
Patient care services
Clinical Symptoms & Disabilities
Prevalence
Under development |