Fanconi Anemia Explore Disorder's Alias
An Autosomal recessive, X-linked dominant mode(s) within the Bone disorders category
Candidate Gene Information
An Autosomal recessive, X-linked dominant mode(s) within the Bone 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 | FANCI/55215 | FA complementation group I | 15q26.1 | Chr15, NC_000015.10 (89243979..89317259) |
73281 nt | 41 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | PALB2/79728 | partner and localizer of BRCA2 | 16p12.2 | Chr16, NC_000016.10 (23603165..23641310, complement) |
38146 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | FANCL/55120 | FA complementation group L | 2p16.1 | Chr2, NC_000002.12 (58159243..58241380, complement) |
82138 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | FANCA/2175 | FA complementation group A | 16q24.3 | Chr16, NC_000016.10 (89737549..89816647, complement) |
79099 nt | 44 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | BRIP1/83990 | BRCA1 interacting helicase 1 | 17q23.2 | Chr17, NC_000017.11 (61679139..61863528, complement) |
184390 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | FANCF/2188 | FA complementation group F | 11p14.3 | Chr11, NC_000011.10 (22622533..22625823, complement) |
3291 nt | 1 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | FANCG/2189 | FA complementation group G | 9p13.3 | Chr9, NC_000009.12 (35073839..35079942, complement) |
6104 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | RAD51C/5889 | RAD51 paralog C | 17q22 | Chr17, NC_000017.11 (58692573..58735611) |
43039 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | FANCE/2178 | FA complementation group E | 6p21.31 | Chr6, NC_000006.12 (35452338..35467102) |
14765 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | BRCA2/675 | BRCA2 DNA repair associated | 13q13.1 | Chr13, NC_000013.11 (32315508..32400268) |
84761 nt | 28 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 11 | FANCB/2187 | FA complementation group B | Xp22.2 | ChrX, NC_000023.11 (14689524..14873069, complement) |
183546 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 12 | FANCD2/2177 | FA complementation group D2 | 3p25.3 | Chr3, NC_000003.12 (10026437..10101932) |
75496 nt | 45 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 13 | FANCC/2176 | FA complementation group C | 9q22.32 | Chr9, NC_000009.12 (95099054..95317709, complement) |
218656 nt | 25 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 14 | XRCC2/7516 | X-ray repair cross complementing 2 | 7q36.1 | Chr7, NC_000007.14 (152644776..152676141, complement) |
31366 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 15 | SLX4/84464 | SLX4 structure-specific endonuclease subunit | 16p13.3 | Chr16, NC_000016.10 (3581181..3611606, complement) |
30426 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 16 | ERCC4/2072 | ERCC excision repair 4, endonuclease catalytic subunit | 16p13.12 | Chr16, NC_000016.10 (13920154..13952348) |
32195 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 17 | UBE2T/29089 | ubiquitin conjugating enzyme E2 T | 1q32.1 | Chr1, NC_000001.11 (202331657..202341936, complement) |
10280 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 18 | BRCA1/672 | BRCA1 DNA repair associated | 17q21.31 | Chr17, NC_000017.11 (43044295..43170327, complement) |
126033 nt | 31 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 19 | FANCM/57697 | FA complementation group M | 14q21.2 | Chr14, NC_000014.9 (45135930..45200890) |
64961 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 20 | RAD51/5888 | RAD51 recombinase | 15q15.1 | Chr15, NC_000015.10 (40694733..40732340) |
37608 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 21 | MAD2L2/10459 | mitotic arrest deficient 2 like 2 | 1p36.22 | Chr1, NC_000001.11 (11674480..11691830, complement) |
17351 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 22 | RFWD3/55159 | ring finger and WD repeat domain 3 | 16q23.1 | Chr16, NC_000016.10 (74621399..74666877, complement) |
45479 nt | 18 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 23 | ZNF469/84627 | zinc finger protein 469 | 16q24.2 | Chr16, NC_000016.10 (88100931..88440753) |
339823 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 24 | DCLRE1B/64858 | DNA cross-link repair 1B | 1p13.2 | Chr1, NC_000001.11 (113904619..113914086) |
9468 nt | 5 | 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 NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |