Belgian Genetic Tests database- Diseases
- Fanconi anemia
Fanconi anemia
| Name: |
Fanconi anemia
|
| Description: |
A rare genetic multisystem disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.
|
| ORPHAcode: |
84
|
| Synonyms: |
Fanconi pancytopenia
|
| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
|
| Changed: |
22 Jun 2023 - 16:14
|
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Hot spot mutation among Jewish (4 genes, 7 mutations) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ASPA HEXA ELP1 FANCC -
Cancer (Breast, ovary, colon,…) (26 genes) - ULG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABRAXAS1 ATM BARD1 BRCA1 BRCA2 BLM BRIP1 CDH1 CHEK2 EPCAM MEN1 MLH1 MRE11 MSH2 MSH6 MUTYH NBN PALB2 PMS2 PTEN RAD50 RAD51C RAD51D STK11 TP53 XRCC2 -
Fanconi anemia - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments BRCA1 100.00 1 BRCA2 100.00 1 BRIP1 100.00 1 ERCC4 100.00 0 FANCA 100.00 1 FANCB 100.00 1 FANCC 100.00 0 FANCD2 100.00 1 FANCE 100.00 0 FANCF 100.00 0 FANCG 100.00 0 FANCI 100.00 0 FANCL 100.00 0 FANCM 100.00 0 MAD2L2 100.00 0 PALB2 100.00 1 RAD51 100.00 0 RAD51C 100.00 1 RFWD3 100.00 0 SLX4 100.00 0 UBE2T 100.00 0 XRCC2 100.00 0 -
Hereditary predisposition to cancer (47 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments APC 100.00 1 NM_000038.6 ATM 100.00 1 NM_000051.3 BAP1 100.00 1 NM_004656.4 BARD1 100.00 1 NM_000465.4 BMPR1A 100.00 1 NM_004329.3 BRCA1 100.00 1 NM_007294.4 BRCA2 100.00 1 NM_000059.3 BRIP1 100.00 1 NM_032043.3 CDH1 100.00 1 NM_004360.5 CDKN1B 100.00 1 NM_004064.4 CDKN2A 100.00 1 NM_001195132.1 CHEK2 100.00 1 NM_007194.4 EPCAM 100.00 1 NM_002354.3 GATA2 100.00 1 NM_032638.5 GREM1 100.00 1 NM_013372.7 MEN1 100.00 1 NM_001370259.2 MLH1 100.00 1 NM_000249.4 MSH2 100.00 1 NM_000251.3 MSH3 100.00 1 NM_002439.5 MSH6 100.00 1 NM_000179.3 MUTYH 100.00 1 NM_001128425.2 NBN 100.00 1 NM_002485.5 NTHL1 100.00 1 NM_002528.7 PALB2 100.00 1 NM_024675.4 PIK3CA 100.00 1 NM_006218.4 PMS2 100.00 1 NM_000535.7 POLD1 100.00 1 NM_002691.4 POLE 100.00 1 NM_006231.4 PTEN 100.00 1 NM_000314.8 RAD50 100.00 1 NM_005732.4 RAD51C 100.00 1 NM_058216.3 RAD51D 100.00 1 NM_002878.3 RPS20 100.00 1 NM_001146227.2 SCG5 100.00 1 NM_001144757.2 SMAD4 100.00 1 NM_005359.6 STK11 100.00 1 NM_000455.5 TP53 100.00 1 NM_000546.5 WWP1 100.00 1 NM_007013.4 AXIN2 100.00 1 NM_004655.4 CDK4 100.00 1 NM_000075.4 DICER1 100.00 1 NM_030621.4 HOXB13 100.00 1 NM_006361.6 NF1 100.00 1 NM_001042492.3 POT1 100.00 1 NM_015450.3 PTCH1 100.00 1 NM_000264.5 RB1 100.00 1 NM_000321.2 RET 100.00 1 NM_020975.6