- Diseases
- Ataxia-telangiectasia
Ataxia-telangiectasia
Name: |
Ataxia-telangiectasia
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Description: |
A rare disorder characterized by the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasia, increased susceptibility to infections and a higher risk of cancer.
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ORPHAcode: |
100
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Synonyms: |
Louis-Bar syndrome
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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Cancer (Breast, ovary, colon,…) (26 genes) - ULG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABRAXAS1 100.00 1 ATM 100.00 1 BARD1 100.00 1 BRCA1 100.00 1 BRCA2 100.00 1 BLM 100.00 1 BRIP1 100.00 1 CDH1 100.00 1 CHEK2 100.00 1 EPCAM 100.00 1 MEN1 100.00 1 MLH1 100.00 1 MRE11 100.00 1 MSH2 100.00 1 MSH6 100.00 1 MUTYH 100.00 1 NBN 100.00 1 PALB2 100.00 1 PMS2 100.00 1 PTEN 100.00 1 RAD50 100.00 1 RAD51C 100.00 1 RAD51D 100.00 1 STK11 100.00 1 TP53 100.00 1 XRCC2 100.00 1 -
Dystonia (86 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ARX 93.36 0 NM_139058.3 CACNA1B 98.50 0 NM_000718.4 KMT2B 98.89 0 NM_014727.3 ADCY5 99.21 0 NM_183357.3 TBCD 99.45 0 NM_005993.5 SMPD1 99.65 0 NM_000543.5 FA2H 99.79 0 NM_024306.5 SUCLG1 99.81 0 NM_003849.4 PRKRA 99.85 0 NM_003690.5 ATN1 99.86 0 NM_001007026.2 AOPEP 99.89 0 NM_001193329.3 TH 99.91 0 NM_199292.3 VAC14 99.91 0 NM_018052.5 TAF1 99.92 0 NM_004606.5 CIZ1 99.92 0 NM_012127.3 NKX2-1 99.92 0 NM_001079668.3 PANK2 99.95 0 NM_153638.4 TOR1A 99.95 0 NM_000113.3 ATM 99.95 0 NM_000051.4 VPS16 99.96 0 NM_022575.4 GCDH 99.96 0 NM_000159.4 MECR 99.97 0 NM_016011.5 NPC1 99.97 0 NM_000271.5 KCNMA1 99.97 0 NM_002247.4 SCN8A 99.97 0 NM_014191.4 PLA2G6 99.97 0 NM_003560.4 ANO3 99.98 0 NM_031418.4 HPRT1 99.98 0 NM_000194.3 RELN 99.98 0 NM_005045.4 SPR 99.98 0 NM_003124.5 GM2A 99.98 0 NM_000405.5 ACTB 99.98 0 NM_001101.5 SLC20A2 99.98 0 NM_006749.5 CP 99.98 0 NM_000096.4 EIF2AK2 99.98 0 NM_001135651.3 GLB1 99.98 0 NM_000404.4 WDR45 99.99 0 NM_007075.4 VPS13A 99.99 0 NM_033305.3 PNKD 99.99 0 NM_015488.5 CLN3 99.99 0 NM_001042432.2 SLC2A1 99.99 0 NM_006516.4 CACNA1A 99.99 0 NM_001127221.2 FTL 99.99 0 NM_000146.4 HPCA 99.99 0 NM_002143.3 SLC18A2 99.99 0 NM_003054.6 PRRT2 99.99 0 NM_145239.3 DCAF17 99.99 0 NM_025000.4 MMUT 99.99 0 NM_000255.4 GNB1 99.99 0 NM_002074.5 COL6A3 99.99 0 NM_004369.4 PTS 99.99 0 NM_000317.3 NR4A2 99.99 0 NM_006186.4 HEXB 99.99 0 NM_000521.4 SLC6A3 99.99 0 NM_001044.5 SLC30A10 99.99 0 NM_018713.3 GNAL 99.99 0 NM_001142339.3 GCH1 100.00 0 NM_000161.3 BCAP31 100.00 0 NM_001139441.1 SLC6A19 100.00 0 NM_001003841.3 VPS41 100.00 0 NM_014396.4 COQ8A 100.00 0 NM_020247.5 KCTD17 100.00 0 NM_001282684.2 ATP1A3 100.00 0 NM_152296.5 RHOBTB2 100.00 0 NM_001160036.2 GNAO1 100.00 0 NM_020988.3 ATP7B 100.00 0 NM_000053.4 SLC39A14 100.00 0 NM_015359.6 PPP2R5D 100.00 0 NM_006245.4 ARSA 100.00 0 NM_000487.6 AUH 100.00 0 NM_001698.3 C19ORF12 100.00 0 NM_001031726.4 COASY 100.00 0 NM_025233.7 CYP27A1 100.00 0 NM_000784.4 DDC 100.00 0 NM_000790.4 DRD2 100.00 0 NM_000795.4 HEXA 100.00 0 NM_000520.6 KCNA1 100.00 0 NM_000217.3 MR1 100.00 0 NM_001194999.2 NPC2 100.00 0 NM_006432.5 SERAC1 100.00 0 NM_032861.4 SGCE 100.00 0 NM_003919.3 SLC19A3 100.00 0 NM_025243.4 THAP1 100.00 0 NM_018105.3 TIMM8A 100.00 0 NM_004085.4 TUBB4A 100.00 0 NM_006087.4 WARS2 100.00 0 NM_015836.4 -
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