ALG5 | Belgian Genetic Tests database

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Name:	ALG5 dolichyl-phosphate beta-glucosyltransferase
Symbol:	ALG5
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	bA421P11.2
XREF(s):	Orphanet HGNC Ensembl SwissProt Reactome OMIM
Created:	26 Oct 2023 - 23:41
Changed:	26 Oct 2023 - 23:49

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Related Gene Panels

Ciliopathy, polycystic kidney and liver diseases, ADTKD, nephronophtisis, Bardet-Biedl syndromes and kidney cancers (146 genes) - IPG

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
ADAMTS9	100.00	1	NM_182920.2
ALG8	100.00	1	NM_024079.5
ANKS6	100.00	1	NM_173551.5
ARL6	100.00	1	NM_001278293.3
BBIP1	100.00	1	NM_001195305.3
BBS1	100.00	1	NM_024649.5
BBS10	100.00	1	NM_024685.4
BBS12	100.00	1	NM_152618.3
BBS2	100.00	1	NM_031885.5
BBS4	100.00	1	NM_033028.5
BBS5	100.00	1	NM_152384.3
BBS7	100.00	1	NM_176824.3
BBS9	100.00	1	NM_198428.3
CDC73	100.00	1	NM_024529.5
CEP164	100.00	1	NM_014956.5
CEP290	100.00	1	NM_025114.4
CEP83	100.00	1	NM_016122.3
COL4A1	100.00	1	NM_001845.6
COL4A3	100.00	1	NM_000091.5
COL4A4	100.00	1	NM_000092.5
COL4A5	100.00	1	NM_033380.3
DCDC2	100.00	1	NM_016356.5
DNAJB11	100.00	1	NM_016306.6
DZIP1L	100.00	1	NM_173543.3
EYA1	100.00	1	NM_000503.6
FAN1	100.00	1	NM_014967.5
FH	100.00	1	NM_000143.4
FLCN	100.00	1	NM_144997.7
GANAB	100.00	1	NM_198334.3
GATA3	100.00	1	NM_001002295.2
GATM	100.00	1	NM_001482.3
GLIS2	100.00	1	NM_032575.3
HNF1B	100.00	1	NM_000458.4
IFT172	100.00	1	NM_015662.3
IFT27	100.00	1	NM_001177701.3
INVS	100.00	1	NM_014425.5
IQCB1	100.00	1	NM_001023570.4
LRP5	100.00	1	NM_002335.4
LRP6	100.00	1	NM_002336.3
LZTFL1	100.00	1	NM_020347.4
MAPKBP1	100.00	1	NM_014994.3
MET	100.00	1	NM_000245.4
MKKS	100.00	1	NM_170784.3
MKS1	100.00	1	NM_017777.4
NEK8	100.00	1	NM_178170.3
NOTCH2	99.00	1	NM_024408.4
NPHP1	100.00	1	NM_001128178.3
NPHP3	100.00	1	NM_153240.5
NPHP4	100.00	1	NM_015102.5
OFD1	100.00	1	NM_003611.3
PAX2	100.00	1	NM_000278.5
PKD1	100.00	1	NM_001009944.3
PKD2	100.00	1	NM_000297.4
PKHD1	100.00	1	NM_138694.4
PMM2	0.00	1	NM_000303.2 une seule position
PRKCSH	100.00	1	NM_001289104.2
PTEN	100.00	1	NM_000314.8
REN	100.00	1	NM_000537.4
RPGRIP1L	96.00	1	NM_015272.5
SDCCAG8	100.00	1	NM_006642.5
SDHB	100.00	1	NM_003000.3
SDHD	100.00	1	NM_003002.4
SEC61A1	100.00	1	NM_013336.4
SEC63	100.00	1	NM_007214.5
TMEM67	100.00	1	NM_153704.6
TRIM32	100.00	1	NM_012210.4
TSC1	100.00	1	NM_000368.5
TSC2	100.00	1	NM_000548.5
TTC21B	100.00	1	NM_024753.5
TTC8	100.00	1	NM_144596.4
UMOD	100.00	1	NM_003361.4
VHL	100.00	1	NM_000551.4
WDPCP	100.00	1	NM_015910.7
WDR19	100.00	1	NM_025132.4
XPNPEP3	100.00	1	NM_022098.4
ZNF423	100.00	1	NM_001379286.1
AHI1	100.00	1	NM_001134831.2
ALG5	100.00	1	NM_013338.5
ALG9	100.00	1	NM_024740.2
ARL13B	100.00	1	NM_001174150.2
ARL3	100.00	1	NM_004311.4
ARMC9	100.00	1	NM_001352754.2
ATXN10	100.00	1	NM_013236.4
B9D1	100.00	1	NM_015681.6
B9D2	100.00	1	NM_030578.4
BAP1	100.00	1	NM_004656.4
C2CD3	100.00	1	NM_001286577.2
CC2D2A	100.00	1	NM_001378615.1
CCDC28B	100.00	1	NM_024296.5
CEP104	100.00	1	NM_014704.4
CEP120	100.00	1	NM_001375405.1
CEP41	100.00	1	NM_018718.3
CFAP418	100.00	1	NM_177965.4
CPLANE1	100.00	1	NM_001384732.1
CSPP1	100.00	1	NM_001382391.1
CYP24A1	100.00	1	NM_000782.5
DLG5	100.00	1	NM_004747.4
DYNC2H1	100.00	1	NM_001377.3
DYNC2I1	100.00	1	NM_018051.5
DYNC2I2	100.00	1	NM_052844.4
DYNC2LI1	100.00	1	NM_016008.4
DYNLT2B	100.00	1	NM_152773.5
EVC	100.00	1	NM_153717.3
EVC2	100.00	1	NM_147127.5
FAM149B1	100.00	1	NM_173348.2
HNF1A	100.00	1	NM_000545.8
HYLS1	100.00	1	NM_001134793.2
IFT122	100.00	1	NM_052989.3
IFT140	100.00	1	NM_014714.4
IFT43	100.00	1	NM_001102564.3
IFT52	100.00	1	NM_016004.5
IFT74	100.00	1	NM_025103.4
IFT80	100.00	1	NM_020800.3
IFT81	100.00	1	NM_014055.4
INPP5E	100.00	1	NM_019892.6
INTU	100.00	1	NM_015693.4
JAG1	100.00	1	NM_000214.3
KATNIP	100.00	1	NM_015202.5
KIAA0586	100.00	1	NM_001329943.3
KIAA0753	100.00	1	NM_014804.3
KIF14	100.00	1	NM_014875.3
KIF7	100.00	1	NM_198525.3
NEK1	100.00	1	NM_001199397.3
PARN	100.00	1	NM_002582.4
PDE6D	100.00	1	NM_002601.4
PIBF1	100.00	1	NM_006346.4
POC1B	100.00	1	NM_172240.3
RNF139	100.00	1	NM_007218.4
SDHA	100.00	1	NM_004168.4
SDHC	100.00	1	NM_003001.5
SEC61B	100.00	1	NM_006808.3
SLC41A1	100.00	1	NM_173854.6
SREBF1	100.00	1	NM_004176.5
SUFU	100.00	1	NM_016169.4
TCTN1	100.00	1	NM_001082538.3
TCTN2	100.00	1	NM_024809.5
TCTN3	100.00	1	NM_015631.6
TFAP2A	100.00	1	NM_001372066.1
TMEM107	100.00	1	NM_183065.4
TMEM138	100.00	1	NM_016464.5
TMEM216	100.00	1	NM_001173990.3
TMEM218	100.00	1	NM_001258244.2
TMEM231	100.00	1	NM_001077418.3
TMEM237	100.00	1	NM_001044385.3
TOGARAM1	100.00	1	NM_001308120.2
TRAF3IP1	100.00	1	NM_015650.4
TXNDC15	100.00	1	NM_024715.4
WDR35	100.00	1	NM_020779.4

Panel Nephro-ULG-V1

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
ACE	97.24	,
ACTG2	100.00	,
ACTN4	100.00	,
ADAMTS13	96.63	,
ADAMTS9	100.00	,
ADCY10	100.00	,
AGT	100.00	,
AGTR1	100.00	,
AGXT	100.00	,
ALDOB	100.00	,
ALG5	100.00	,
ALG8	100.00	,
ALG9	99.28	,
ALMS1	100.00	,
ALPL	100.00	,
AMN	86.23	,
ANKS6	91.46	,
ANLN	100.00	,
ANOS1	94.70	,
AP2S1	100.00	,
APOA1	100.00	,
APOL1	100.00	,
APRT	100.00	,
AQP2	100.00	,
ARHGAP24	99.80	,
ARHGDIA	100.00	,
ARL6	100.00	,
ATP6V0A4	100.00	,
ATP6V1B1	100.00	,
ATP7B	100.00	,
ATXN10	99.92	,
AVIL	100.00	,
AVPR2	100.00	,
B2M	100.00	,
B9D1	100.00	,
B9D2	100.00	,
BBIP1	100.00	,
BBS1	100.00	,
BBS10	100.00	,
BBS12	100.00	,
BBS2	100.00	,
BBS4	100.00	,
BBS5	100.00	,
BBS7	100.00	,
BBS9	100.00	,
BICC1	99.81	,
BMP4	100.00	,
BMP7	100.00	,
BNC2	100.00	,
BSND	100.00	,
C3	100.00	,
CA2	100.00	,
CASR	100.00	,
CC2D2A	100.00	,
CD151	100.00	,
CD2AP	100.00	,
CD46	100.00	,
CDC5L	100.00	,
CDC73	100.00	,
CENPF	100.00	,
CEP164	100.00	,
CEP290	99.95	,
CEP41	100.00	,
CEP55	100.00	,
CEP83	100.00	,
CFB	100.00	,
CFH	100.00	,
CFHR1	95.06	,
CFHR3	99.44	,
CFHR5	100.00	,
CFI	100.00	,
CHD1L	99.95	,
CHD7	100.00	,
CHRM3	100.00	,
CHRNA3	99.35	,
CLCN5	100.00	,
CLCNKA	100.00	,
CLCNKB	100.00	,
CLDN10	100.00	,
CLDN16	100.00	,
CLDN19	100.00	,
CNNM2	99.42	,
COL4A1	99.52	,
COL4A3	99.47	,
COL4A4	100.00	,
COL4A5	99.90	,
COL4A6	99.82	,
COQ2	95.50	,
COQ6	100.00	,
COQ8A	100.00	,
COQ8B	100.00	,
CRB2	94.59	,
CSPP1	100.00	,
CTNS	100.00	,
CTU2	98.44	,
CUBN	100.00	,
CUL3	100.00	,
CYP24A1	100.00	,
DAAM2	100.00	,
DCDC2	100.00	,
DGKE	100.00	,
DHCR7	99.99	,
DIS3L2	100.00	,
DMP1	100.00	,
DNAJB11	100.00	,
DSTYK	100.00	,
DYNC2H1	99.97	,
DZIP1L	100.00	,
EGF	100.00	,
EGFR	99.63	,
EHHADH	100.00	,
EMP2	100.00	,
EYA1	100.00	,
FAH	100.00	,
FAM20A	99.78	,
CCNQ	82.12	,
FAN1	100.00	,
FAT1	100.00	,
FGA	100.00	,
FGF20	99.13	,
FGF23	100.00	,
FH	100.00	,
FLCN	100.00	,
FN1	99.98	,
FRAS1	100.00	,
FREM1	100.00	,
FREM2	100.00	,
FXYD2	100.00	,
G6PC1	100.00	,
GALT	100.00	,
GANAB	100.00	,
GATA3	100.00	,
GATM	100.00	,
GLA	100.00	,
GLI3	100.00	,
GLIS2	100.00	,
GNA11	99.87	,
GPC3	99.84	,
GREB1L	100.00	,
GRHPR	100.00	,
GRIP1	100.00	,
GSN	100.00	,
HAAO	100.00	,
HNF1B	100.00	,
HNF4A	100.00	,
HOGA1	100.00	,
HOXA13	71.26	,
HPRT1	97.10	,
HPSE2	100.00	,
HSD11B2	78.40	,
IFT122	100.00	,
IFT140	99.96	,
IFT172	100.00	,
IFT27	100.00	,
IFT80	100.00	,
INF2	99.98	,
INVS	100.00	,
IQCB1	100.00	,
ITGA3	99.70	,
ITGA8	99.76	,
JAG1	99.83	,
KANK1	100.00	,
KANK2	100.00	,
KANK4	100.00	,
KCNA1	100.00	,
KCNJ1	100.00	,
KCNJ10	100.00	,
KCNJ16	100.00	,
KDM6A	99.90	,
KL	95.50	,
KLHL3	100.00	,
KMT2D	100.00	,
KYNU	99.98	,
LAMA5	98.59	,
LAMB2	100.00	,
LIFR	100.00	,
LMX1B	100.00	,
LRIG2	99.95	,
LRP2	100.00	,
LRP4	99.14	,
LRP5	97.83	,
LRP6	100.00	,
LYZ	100.00	,
LZTFL1	100.00	,
MAGED2	99.94	,
MAGI2	93.63	,
MAPKBP1	100.00	,
MET	100.00	,
MKKS	100.00	,
MKS1	100.00	,
MMACHC	100.00	,
MUC1	100.00	,
MYH9	100.00	,
MYO1E	100.00	,
MYOCD	100.00	,
NADSYN1	100.00	,
NEK8	100.00	,
NIPBL	100.00	,
NOTCH2	100.00	,
NPHP1	100.00	,
NPHP3	99.73	,
NPHP4	100.00	,
NPHS1	100.00	,
NPHS2	100.00	,
NR3C2	100.00	,
NRIP1	100.00	,
NUP107	100.00	,
NUP133	100.00	,
NUP160	100.00	,
NUP205	100.00	,
NUP85	100.00	,
NUP93	100.00	,
NXF5	0.00	,
OCRL	99.96	,
OFD1	100.00	,
PAX2	100.00	,
PBX1	100.00	,
PCBD1	92.70	,
PDE6D	100.00	,
PDSS2	100.00	,
PHEX	98.98	,
PKD1	96.86	,
PKD2	92.32	,
PKHD1	100.00	,
PLCE1	100.00	,
PLG	100.00	,
PLVAP	100.00	,
PMM2	100.00	,
PODXL	90.59	,
PRKCSH	100.00	,
PTPRO	100.00	,
REN	100.00	,
RET	99.35	,
ROBO1	100.00	,
ROBO2	100.00	,
ROR2	98.01	,
RPGRIP1L	99.18	,
RRAGD	99.90	,
RRM2B	100.00	,
SALL1	100.00	,
SARS2	100.00	,
SCARB2	100.00	,
SCNN1A	100.00	,
SCNN1B	100.00	,
SCNN1G	100.00	,
SDCCAG8	100.00	,
SDHB	100.00	,
SDHD	100.00	,
SEC61A1	100.00	,
SEC63	99.95	,
SGPL1	99.92	,
SIX1	100.00	,
SIX2	100.00	,
SIX5	93.51	,
SLC12A1	100.00	,
SLC12A3	100.00	,
SLC1A1	100.00	,
SLC22A12	100.00	,
SLC26A1	100.00	,
SLC26A3	100.00	,
SLC2A2	100.00	,
SLC2A9	100.00	,
SLC34A1	100.00	,
SLC34A3	100.00	,
SLC3A1	100.00	,
SLC41A1	100.00	,
SLC4A1	100.00	,
SLC4A4	100.00	,
SLC5A2	100.00	,
SLC6A19	100.00	,
SLC7A7	100.00	,
SLC7A9	100.00	,
NHERF1	100.00	,
SLIT2	99.95	,
SMARCAL1	100.00	,
SOX17	99.26	,
STRA6	100.00	,
STX16	100.00	,
TBC1D1	100.00	,
TBC1D8B	100.00	,
TBX18	99.84	,
TCTN2	100.00	,
TCTN3	100.00	,
TFAP2A	100.00	,
THBD	100.00	,
TMEM138	100.00	,
TMEM216	100.00	,
TMEM231	100.00	,
TMEM237	100.00	,
TMEM260	97.92	,
TMEM67	100.00	,
TRAP1	95.57	,
TRIM32	100.00	,
TRIM8	100.00	,
TRPC6	100.00	,
TRPM6	100.00	,
TSC1	100.00	,
TSC2	100.00	,
TTC21B	50.00	,
TTC8	100.00	,
TTR	100.00	,
TULP3	100.00	,
UMOD	100.00	,
UPK3A	100.00	,
VHL	100.00	,
VIPAS39	100.00	,
VPS33B	100.00	,
WBP11	100.00	,
WDPCP	100.00	,
WDR19	100.00	,
WDR35	100.00	,
WDR73	100.00	,
WNK1	100.00	,
WNK4	100.00	,
WNT4	93.15	,
WNT5A	88.79	,
WT1	95.16	,
XDH	100.00	,
XPNPEP3	100.00	,
XPO5	99.80	,
ZIC3	100.00	,
ZMYM2	99.97	,
ZNF423	100.00	,