Tay-Sachs disease, B variant, adult form | Belgian Genetic Tests database

Disease Export to PDF
Name:	Tay-Sachs disease, B variant, adult form
ORPHAcode:	309192
Synonyms:	GM2 gangliosidosis, B variant, adult form Hexosaminidase A deficiency, adult form
XREF(s):	Orphanet ICD-10
Analyte(s):	HEXA
Created:	13 May 2019 - 01:02
Changed:	22 Jun 2023 - 16:14

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Dystonia (68 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
PRKRA	93.20	NM_003690.4
ARX	96.10	NM_139058.2
CACNA1B	97.90	NM_000718.3
KMT2B	98.40	NM_014727.2
ADCY5	98.60	NM_183357.2
CIZ1	98.80	NM_012127.2
TH	99.10	NM_199292.2
SMPD1	99.30	NM_000543.4
CP	99.50	NM_000096.3
PRRT2	99.60	NM_145239.2
SUCLG1	99.60	NM_003849.3
PLA2G6	99.70	NM_003560.3
TBCD	99.70	NM_005993.4
ANO3	99.70	NM_031418.3
TOR1A	99.70	NM_000113.2
GCDH	99.90	NM_000159.3
NPC1	99.90	NM_000271.4
FA2H	99.90	NM_024306.4
TAF1	99.90	NM_004606.4
SPR	99.90	NM_003124.4
PTS	100.00	NM_000317.2
DCAF17	100.00	NM_025000.3
ATP7B	100.00	NM_000053.3
SLC39A14	100.00	NM_015359.5
C19ORF12	100.00	NM_001031726.3
RELN	100.00	NM_005045.3
ATM	100.00	NM_000051.3
CACNA1A	100.00	NM_002143.2
CYP27A1	100.00	NM_000784.3
KCTD17	100.00	NM_001282684.1
NKX2-1	100.00	NM_001079668.2
PANK2	100.00	NM_153638.3
VPS13A	100.00	NM_033305.2
COL6A3	100.00	NM_004369.3
ACTB	100.00	NM_001101.4
ARSA	100.00	NM_000487.5
ATP1A3	100.00	NM_152296.5
AUH	100.00	NM_001698.2
BCAP31	100.00	NM_001139441.1
COASY	100.00	NM_025233.6
DDC	100.00	NM_000790.3
DRD2	100.00	NM_000795.3
FTL	100.00	NM_000146.3
GCH1	100.00	NM_000161.2
GLB1	100.00	NM_000404.3
GNAL	100.00	NM_001142339.2
GNAO1	100.00	NM_020988.2
GNB1	100.00	NM_002074.4
HEXA	100.00	NM_000520.5
HEXB	100.00	NM_000521.3
HPRT1	100.00	NM_000194.2
KCNMA1	100.00	NM_002247.3
MECR	100.00	NM_016011.4
MR1	100.00	NM_001194999.1
NPC2	100.00	NM_006432.3
PNKD	100.00	NM_015488.4
SERAC1	100.00	NM_032861.3
SGCE	100.00	NM_003919.2
SLC18A2	100.00	NM_003054.4
SLC19A3	100.00	NM_025243.3
SLC2A1	100.00	NM_006516.2
SLC30A10	100.00	NM_018713.2
SLC6A3	100.00	NM_001044.4
THAP1	100.00	NM_018105.2
TIMM8A	100.00	NM_004085.3
TUBB4A	100.00	NM_006087.3
VAC14	100.00	NM_018052.4
WDR45	100.00	NM_007075.3

Lysomal Storage (64 genes) - VUB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
ADCY5	94.52	No comment
AGA	100.00	No comment
ARSA	100.00	No comment
SLURP1	85.73	No comment
ASAH1	99.94	No comment
CHIT1	100.00	No comment
CLN3	100.00	No comment
CLN5	99.94	No comment
CLN6	90.35	No comment
CLN8	100.00	No comment
CTNS	100.00	No comment
CTSA	100.00	No comment
CTSC	100.00	No comment
CTSD	99.45	No comment
CTSK	100.00	No comment
DGUOK	100.00	No comment
FBXL4	100.00	No comment
FUCA1	100.00	No comment
GAA	100.00	No comment
GALC	98.44	No comment
GALNS	96.18	No comment
GBA1	100.00	No comment
GLA	100.00	No comment
GLB1	100.00	No comment
GM2A	100.00	No comment
GNPTAB	100.00	No comment
GNPTG	94.69	No comment
GNS	100.00	No comment
GUSB	100.00	No comment
HEXA	100.00	No comment
HEXB	99.82	No comment
HGSNAT	93.95	No comment
HYAL1	100.00	No comment
IDS	100.00	No comment
IDUA	88.67	No comment
LAMP2	100.00	No comment
LIPA	100.00	No comment
MAN2B1	100.00	No comment
MANBA	99.97	No comment
MCOLN1	97.27	No comment
MFSD8	100.00	No comment
MGME1	100.00	No comment
MPV17	100.00	No comment
NAGA	100.00	No comment
NAGLU	87.38	No comment
NEU1	100.00	No comment
NPC1	98.40	No comment
NPC2	100.00	No comment
OCRL	99.77	No comment
POLG	100.00	No comment
PPT1	100.00	No comment
PSAP	100.00	No comment
RRM2B	100.00	No comment
SGSH	99.99	No comment
SLC17A5	100.00	No comment
SMPD1	100.00	No comment
STS	100.00	No comment
SUCLA2	100.00	No comment
SUCLG1	95.74	No comment
SUMF1	100.00	No comment
TK2	95.90	No comment
ACD	100.00	No comment
TWNK	100.00	No comment
TYMP	91.72	No comment