Full data view for gene IDS

SUMMARY records: IDS variants classified following ACMG recommendations
Information The variants shown are described using the NM_000202.5 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.(?_-217)_(*3982_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del IDS gene deletion extending from DXS1185 to DXS466 - IDS_000307 - PubMed: Karsten 1998 - - Germline - - - - - DNA SEQ, SSCA - - MPS - PubMed: Karsten 1998 - M - - - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del gene deleted - IDS_000307 not in 100 control chromosomes PubMed: Gort 1998, PubMed: Gort 1998 - - Germline - - - - - DNA SEQ, SSCA - - MPS H14 PubMed: Gort 1998, PubMed: Gort 1998 patient M - Spain - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del gene deleted - IDS_000307 not in 100 control chromosomes PubMed: Gort 1998, PubMed: Gort 1998 - - Germline - - - - - DNA SEQ, SSCA - - MPS H49 PubMed: Gort 1998, PubMed: Gort 1998 patient M - Spain - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del del gene - IDS_000307 - PubMed: Hartog 1999 - - Germline - - - - - DNA Southern, PCR - - MPS U164 PubMed: Hartog 1999 patient M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del del gene - IDS_000307 - PubMed: Hartog 1999 - - Germline - - - - - DNA Southern, PCR - - MPS U179 PubMed: Hartog 1999 patient M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del del IDS - IDS_000307 del IDS PubMed: Zhang 2011 - - Germline - - - - - DNA SEQ - - MPS patient PubMed: Zhang 2011 - M - China - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del del IDS gene - IDS_000307 - PubMed: Amartino 2014 - - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Fam1 PubMed: Amartino 2014 patient M - Argentina - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.? p.? Unknown - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del del ex1-9 - IDS_000307 - PubMed: Fang 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - MPS Pat25 PubMed: Fang 2022 - M - China - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del whole gene deletion - IDS_000307 deficient iduronate 2-sulfatase levels PubMed: Agrawal 2022 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - MPS Pat101 PubMed: Agrawal 2022 patient, no family history M - India - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Maternal (inferred) - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del whole gene deletion - IDS_000307 no detectable enzyme activity PubMed: Agrawal 2022 - - Germline - - - - - DNA MLPA, SEQ - - MPS Pat103.1/2 PubMed: Agrawal 2022 family, 2 affected, family history M - India - - - - - 2 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del del IDS gene - IDS_000307 deletion undetectable by FISH probe RP11-378O08 PubMed: Kosuga 2016 - - Germline - - - - - DNA PCR, SEQ - - MPS Pat65 PubMed: Kosuga 2016 - M - Japan - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del del IDS gene - IDS_000307 deletion undetectable by FISH probe RP11-378O08 PubMed: Kosuga 2016 - - Germline - - - - - DNA PCR, SEQ - - MPS Pat67 PubMed: Kosuga 2016 - M - Japan - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del del IDS gene - IDS_000307 1 Mb deletion Xq28incl. IDS, FMR2 PubMed: Kosuga 2016 - - Germline - - - - - DNA PCR, SEQ - - MPS Pat66 PubMed: Kosuga 2016 - M - Japan - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del del ex1-9 - IDS_000307 - PubMed: Zhang 2019 - - Germline - - - - - DNA PCR, SEQ - - MPS Pat62 PubMed: Zhang 2019 - M - China - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del del ex1-9 - IDS_000307 - PubMed: Zhang 2019 - - Germline - - - - - DNA PCR, SEQ - - MPS Pat63 PubMed: Zhang 2019 - M - China - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del del ex1-9 - IDS_000307 - PubMed: Zhong 2023 - - Germline - - - - - DNA PCR, SEQ - - MPS CH166 PubMed: Zhong 2023 - M - China - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del del ex1-9 - IDS_000307 - PubMed: Zhong 2023 - - Germline - - - - - DNA PCR, SEQ - - MPS CH167 PubMed: Zhong 2023 - M - China - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del del ex1-9 - IDS_000307 - PubMed: Zhong 2023 - - Germline - - - - - DNA PCR, SEQ - - MPS CH168 PubMed: Zhong 2023 - M - China - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del del ex1-9 - IDS_000307 - PubMed: Zhong 2023 - - Germline - - - - - DNA PCR, SEQ - - MPS CH169 PubMed: Zhong 2023 - M - China - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del del ex1-9 - IDS_000307 - PubMed: Zhong 2023 - - Germline - - - - - DNA PCR, SEQ - - MPS CH170 PubMed: Zhong 2023 - M - China - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del del ex1-9 - IDS_000307 - PubMed: Zhong 2023 - - Germline - - - - - DNA PCR, SEQ - - MPS CH171 PubMed: Zhong 2023 - M - China - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del del ex1-9 - IDS_000307 - PubMed: Zhong 2023 - - Germline - - - - - DNA PCR, SEQ - - MPS CH172 PubMed: Zhong 2023 - M - China - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del del ex1-9 - IDS_000307 - PubMed: Zhao 2021 - - De novo - - - - - DNA SEQ - - MPS Pat29 PubMed: Zhao 2021 - M - China - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del del IDS gene - IDS_000307 - PubMed: Dvorakova 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Pat34 PubMed: Dvorakova 2017 - M - Serbia - >6y - - - 1 Johan den Dunnen
+/. - c.(?_-217)_(*3982_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del del IDS gene - IDS_000307 - PubMed: Dvorakova 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Pat32 PubMed: Dvorakova 2017 - M - Serbia - >6y - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del complete IDS del - IDS_000307 IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline - - - - - DNA PCR - - MPS Fam185Pat205 PubMed: Semyachkina 2021 family, 2 affected (2M) M - Russia - - - - - 2 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del complete IDS del - IDS_000307 IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline - - - - - DNA PCR - - MPS Fam186Pat206 PubMed: Semyachkina 2021 relative M - Russia - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del complete IDS del - IDS_000307 IDS activity plasma 1.3 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA PCR - - MPS Fam187Pat207 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del complete IDS del - IDS_000307 IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA PCR - - MPS Fam188Pat208 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del complete IDS del - IDS_000307 IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA PCR - - MPS Fam189Pat209 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del complete IDS del - IDS_000307 IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA PCR - - MPS Fam190Pat210 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del complete IDS del - IDS_000307 IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA PCR - - MPS Fam191Pat211 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del complete IDS del - IDS_000307 IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA PCR - - MPS Fam192Pat212 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del del IDS gene - IDS_000307 - PubMed: Amartino 2014 - - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Fam2 PubMed: Amartino 2014 patient M - Argentina - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del del IDS gene - IDS_000307 - PubMed: Amartino 2014 - - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Fam3 PubMed: Amartino 2014 patient M - Argentina - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del - - IDS_000307 complete gene deletion, incl. DXS466; DXS296, DXS304 present PubMed: Froissart 1993 - - Germline - - - - - DNA SEQ - - MPS2 Pat1 PubMed: Froissart 1993 - M - France - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Parent #1 - pathogenic g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del - - IDS_000307 complete gene deletion, incl. DXS466; DXS296, DXS304 present PubMed: Froissart 1993 - - Germline - - - - - DNA SEQ - - MPS2 Pat2 PubMed: Froissart 1993 - M - France - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Parent #1 - pathogenic g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del - - IDS_000307 complete gene deletion, IDS2 present PubMed: Vafiadaki 1998 - - Germline - - - - - DNA PCR - - MPS2 CS PubMed: Vafaidaki 1998 - M - - - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del - - IDS_000307 complete gene deletion incl. DXS296; DXS304 present PubMed: Flomen 1992, OMIM:var0002 - - Germline - - - - - DNA, RNA CMC, RT-PCR, SEQ - - MPS2 Pat1 PubMed: Flomen 1992 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-217)_(*3982_?)del r.0 p.0 Unknown - pathogenic (recessive) g.(?_148560295)_(148586884_?)del g.(?_149478764)_(149505354_?)del del gene - IDS_000307 - PubMed: Karsten 1998 - - Germline - - - - - DNA SEQ, SSCA - - MPS Pat3 PubMed: Karsten 1998 - M - Russia - - - - - 1 Johan den Dunnen
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