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.

60 entries on 1 page. Showing entries 1 - 60.
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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     
+/. 9 c.1327C>T r.(?) p.(Arg443*) Parent #1 - pathogenic g.148564603G>A g.149483072G>A - - IDS_000011 - PubMed: Vafiadaki 1998 - - Germline - - - - - DNA SEQ - - MPS2 UM PubMed: Vafaidaki 1998 female patient F - - Asian - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.1327c>u p.Arg443Ter Parent #1 - pathogenic (recessive) g.148564603G>A g.149483072G>A - - IDS_000011 - PubMed: Bunge 1992, PubMed: Bunge 1993, OMIM:var0001 - - Germline - - TaqI- - - DNA SEQ - - MPS2 H20 PubMed: Bunge 1992, PubMed: Bunge 1993 - M - Germany - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.(?) p.(Arg443*) Parent #1 - pathogenic g.148564603G>A g.149483072G>A - - IDS_000011 - {PMID:Gort 1998} - - Germline - - TaqI- - - DNA SEQ - - MPS2 - - - M - - - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.(?) p.(Arg443*) Parent #1 - pathogenic g.148564603G>A g.149483072G>A - - IDS_000011 - {PMID:Hartog 1999} - - Germline - - TaqI- - - DNA SEQ - - MPS2 - - - M - - - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.1327c>u p.(Arg443*) Parent #1 - pathogenic g.148564603G>A g.149483072G>A - - IDS_000011 - PubMed: Froisart 2007 - - Germline - - - - - DNA SEQ - - MPS2 - - - M - - - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.1327c>u p.Arg443* Maternal (confirmed) - pathogenic (recessive) g.148564603G>A g.149483072G>A - - IDS_000011 - PubMed: Sukegawa 1992, PubMed: Sukegawa 1995, OMIM:var0001 - - Germline - - TaqI- - - DNA SEQ - - MPS2 PatST PubMed: Sukegawa 1992 mother carrier M - Japan - - - - - 2 Johan den Dunnen
+/. 9 c.1327C>T r.1327c>u p.Arg443* Parent #1 - pathogenic (recessive) g.148564603G>A g.149483072G>A - - IDS_000011 - PubMed: Rathmann 1996 - - Germline - - - - - DNA SEQ - - MPS2 Pat21 PubMed: Rathmann 1996 - M - - - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.1327c>u p.Arg443* Parent #1 - pathogenic g.148564603G>A g.149483072G>A - - IDS_000011 - PubMed: Filocamo 2001 - - Germline - - TaqI- - - DNA SEQ - - MPS2 H47 PubMed: Filocamo 2001 - M - Italy - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.1327c>u p.Arg443* Parent #1 - pathogenic g.148564603G>A g.149483072G>A 1451C>T - IDS_000011 Arg stop; 442 amino acids PubMed: Moreira da Silva 2001 - - Germline - - TaqI- - - DNA SEQ - - MPS2 H11 PubMed: Moreira da Silva 2001 - M - Portugal - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T - p.Arg443* Unknown - NA g.148564603G>A g.149483072G>A - - IDS_000011 expression cloning shows reduced activity, instable protein PubMed: Sukegawa 1992 - - In vitro (cloned) - - TaqI- - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1327C>T r.(?) p.(Arg443*) Parent #1 - pathogenic g.148564603G>A g.149483072G>A - - IDS_000011 - PubMed: Froissart 1993, OMIM:var0001 - - Germline - - TaqI- - - DNA SEQ - - MPS2 Pat5 PubMed: Froissart 1993 - M - France - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.(?) p.(Arg443*) Parent #1 - pathogenic g.148564603G>A g.149483072G>A - - IDS_000011 - PubMed: Froissart 1993, OMIM:var0001 - - Germline - - TaqI- - - DNA SEQ - - MPS2 Pat6 PubMed: Froissart 1993 - M - France - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.(?) p.(Arg443*) Parent #1 - pathogenic g.148564603G>A g.149483072G>A - - IDS_000011 - PubMed: Vafiadaki 1998 - - Germline - - - - - DNA SEQ - - MPS2 TF PubMed: Vafaidaki 1998 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.(?) p.(Arg443*) Maternal (confirmed) - pathogenic (recessive) g.148564603G>A g.149483072G>A - - IDS_000011 - PubMed: Amartino 2014 - - Germline - - - - - DNA SEQ - - MPS2 Fam30 PubMed: Amartino 2014 2-generation family, 1 affected, unaffected carrier mother M - Argentina - - - - - 1 Paula Rozenfeld
+/. - c.1327C>T r.1327c>u p.Arg443Ter Maternal (confirmed) - pathogenic (recessive) g.148564603G>A g.149483072G>A - - IDS_000011 - PubMed: Sukegawa 1995 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPS HT1 PubMed: Sukegawa 1995 - M - Japan - - - - - 1 Johan den Dunnen
+/. - c.1327C>T r.(?) p.(Arg443Ter) Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A - - IDS_000011 - PubMed: Karsten 1998 - - Germline - - - - - DNA SEQ, SSCA - - MPS Pat2 PubMed: Karsten 1998 - M - Russia - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.1327c>u p.Arg443Ter Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A R443X - IDS_000011 - PubMed: Froissart 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPS Pat32 PubMed: Froissart 1998 patient M - France - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.1327c>u p.Arg443Ter Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A R443X - IDS_000011 - PubMed: Froissart 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPS Pat33 PubMed: Froissart 1998 patient M - France - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.1327c>u p.Arg443Ter Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A R443X - IDS_000011 - PubMed: Froissart 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPS Pat34 PubMed: Froissart 1998 patient M - France - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.1327c>u p.Arg443Ter Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A R443X - IDS_000011 - PubMed: Froissart 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPS Pat35 PubMed: Froissart 1998 patient M - France - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.1327c>u p.Arg443Ter Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A R443X - IDS_000011 - PubMed: Froissart 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPS Pat36 PubMed: Froissart 1998 patient M - France - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.(?) p.(Arg443Ter) Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A R443X - IDS_000011 not in 100 control chromosomes PubMed: Gort 1998, PubMed: Gort 1998 - - Germline - - - - - DNA SEQ, SSCA - - MPS H40 PubMed: Gort 1998, PubMed: Gort 1998 patient M - Spain - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.(?) p.(Arg443Ter) Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A - - IDS_000011 - PubMed: Isogai 1998 - - Germline - - - - - DNA SEQ - - MPS HT1 PubMed: Isogai 1998 - M - Japan - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.(?) p.(Arg443Ter) Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A 1451C>T - IDS_000011 - PubMed: Hartog 1999 - - Germline - - - - - DNA SEQ - - MPS U154 PubMed: Hartog 1999 aborted fetus M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.(?) p.(Arg443Ter) Maternal (inferred) - pathogenic (recessive) g.148564603G>A g.149483072G>A - - IDS_000011 - PubMed: Keeratichamroen 2008 - - De novo - - TaqI - - DNA SEQ - - MPS Pat17 PubMed: Keeratichamroen 2008 patient, no family history M - Thailand - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.(?) p.(Arg443Ter) Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A - - IDS_000011 - PubMed: Zhang 2011 - - Germline - - - - - DNA SEQ - - MPS patient PubMed: Zhang 2011 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.(?) p.(Arg443Ter) Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A - - IDS_000011 - PubMed: Zhang 2011 - - Germline - - - - - DNA SEQ - - MPS patient PubMed: Zhang 2011 - M - China - - - - - 1 Johan den Dunnen
+/. - c.1327C>T r.(?) p.(Arg443Ter) Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A - - IDS_000011 - PubMed: Sohn 2012 - - Germline - - - - - DNA SEQ - - MPS KH19 PubMed: Sohn 2012 - M - Korea - - - - - 1 Johan den Dunnen
+/. - c.1327C>T r.(?) p.(Arg443Ter) Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A - - IDS_000011 - PubMed: Sohn 2012 - - Germline - - - - - DNA SEQ - - MPS KH36 PubMed: Sohn 2012 - M - Korea - - - - - 1 Johan den Dunnen
+/. - c.1327C>T r.(?) p.(Arg443Ter) Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A - - IDS_000011 - PubMed: Sohn 2012 - - Germline - - - - - DNA SEQ - - MPS KH71 PubMed: Sohn 2012 - M - Korea - - - - - 1 Johan den Dunnen
+/. - c.1327C>T r.(?) p.(Arg443Ter) Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A R443X - IDS_000011 - PubMed: Brusius-Facchin 2014 - - Germline - - - - - DNA SEQ, SSCA - - SDSX H87 PubMed: Brusius-Facchin 2014 - M - Brazil America-S - - - - 1 Johan den Dunnen
+/. - c.1327C>T r.(?) p.(Arg443Ter) Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A R443X - IDS_000011 - PubMed: Brusius-Facchin 2014 - - Germline - - - - - DNA SEQ, SSCA - - SDSX H88 PubMed: Brusius-Facchin 2014 - M - Brazil America-S - - - - 1 Johan den Dunnen
+/. - c.1327C>T r.(?) p.(Arg443Ter) Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A R443X - IDS_000011 - PubMed: Brusius-Facchin 2014 - - Germline - - - - - DNA SEQ, SSCA - - SDSX H89 PubMed: Brusius-Facchin 2014 - M - Brazil America-S - - - - 1 Johan den Dunnen
+/. - c.1327C>T r.(?) p.(Arg443Ter) Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A R443X - IDS_000011 - PubMed: Brusius-Facchin 2014 - - Germline - - - - - DNA SEQ, SSCA - - SDSX H90 PubMed: Brusius-Facchin 2014 - M - Brazil America-S - - - - 1 Johan den Dunnen
+/. - c.1327C>T r.(?) p.(Arg443Ter) Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A R443X - IDS_000011 - PubMed: Brusius-Facchin 2014 - - Germline - - - - - DNA SEQ, SSCA - - SDSX H91 PubMed: Brusius-Facchin 2014 - M - Brazil America-S - - - - 1 Johan den Dunnen
+/. - c.1327C>T r.(?) p.(Arg443Ter) Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A R443X - IDS_000011 - PubMed: Brusius-Facchin 2014 - - Germline - - - - - DNA SEQ, SSCA - - SDSX H92 PubMed: Brusius-Facchin 2014 - M - Bolivia America-S - - - - 1 Johan den Dunnen
+/. - c.1327C>T r.(?) p.(Arg443*) Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A - - IDS_000011 - PubMed: Cho 2014 - - Germline - - - - - DNA SEQ - - MPS Pat3 PubMed: Cho 2014 - M - Korea - - - - - 1 Johan den Dunnen
+/. - c.1327C>T r.(?) p.(Arg443Ter) Maternal (confirmed) - pathogenic (recessive) g.148564603G>A g.149483072G>A - - IDS_000011 - PubMed: Narayanan 2016 - - Germline - - - - - DNA SEQ - - MPS Pat5 PubMed: Narayanan 2016 2-generation family, 2 affected sibs M - India - - - - - 2 Johan den Dunnen
+/. 9 c.1327C>T r.(?) p.(Arg443Ter) Maternal (confirmed) - pathogenic (recessive) g.148564603G>A g.149483072G>A - - IDS_000011 - PubMed: Uttarilli 2016 - - Germline - - - - - DNA SEQ - - MPS IDS-23 PubMed: Uttarilli 2016 2-generation family, 2 affected brothers M no India - - - - - 2 Johan den Dunnen
+/. - c.1327C>T r.(?) p.(Arg443*) Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A R443X - IDS_000011 detailed functional analysis PubMed: Marazza 2020 - - Germline - - - - - DNA SEQ - - MPS2 patient PubMed: Marazza 2020 - M - Switzerland - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.(?) p.(Arg443Ter) Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A - - IDS_000011 deficient iduronate 2-sulfatase levels PubMed: Agrawal 2022 SCV001480523 - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Pat54 PubMed: Agrawal 2022 patient, no family history M - India - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.(?) p.(Arg443Ter) Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A - - IDS_000011 - PubMed: Josahkian 2021 - - Germline - - - - - DNA SEQ - - MPS - PubMed: Josahkian 2021 patient - - Brazil - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.(?) p.(Arg443Ter) Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A - - IDS_000011 - PubMed: Josahkian 2021 - - Germline - - - - - DNA SEQ - - MPS - PubMed: Josahkian 2021 patient - - Brazil - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.(?) p.(Arg443Ter) Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A - - IDS_000011 - PubMed: Josahkian 2021 - - Germline - - - - - DNA SEQ - - MPS - PubMed: Josahkian 2021 patient - - Brazil - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.(?) p.(Arg443Ter) Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A - - IDS_000011 - PubMed: Kosuga 2016 - - Germline - - - - - DNA SEQ - - MPS Pat78 PubMed: Kosuga 2016 - M - Japan - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.(?) p.(Arg443Ter) Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A - - IDS_000011 - PubMed: Zhang 2019 - - Germline - - - - - DNA SEQ - - MPS Pat35 PubMed: Zhang 2019 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.(?) p.(Arg443Ter) Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A - - IDS_000011 - PubMed: Zhang 2019 - - Germline - - - - - DNA SEQ - - MPS Pat36 PubMed: Zhang 2019 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.(?) p.(Arg443Ter) Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A - - IDS_000011 - PubMed: Zhang 2019 - - Germline - - - - - DNA SEQ - - MPS Pat37 PubMed: Zhang 2019 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.(?) p.(Arg443Ter) Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A - - IDS_000011 - PubMed: Zhang 2019 - - Germline - - - - - DNA SEQ - - MPS Pat38 PubMed: Zhang 2019 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.(?) p.(Arg443Ter) Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A - - IDS_000011 - PubMed: Zhong 2023 - - Germline - - - - - DNA SEQ - - MPS CH97 PubMed: Zhong 2023 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.(?) p.(Arg443Ter) Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A - - IDS_000011 - PubMed: Zhong 2023 - - Germline - - - - - DNA SEQ - - MPS CH98 PubMed: Zhong 2023 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.(?) p.(Arg443Ter) Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A - - IDS_000011 - PubMed: Zhong 2023 - - Germline - - - - - DNA SEQ - - MPS CH99 PubMed: Zhong 2023 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.(?) p.(Arg443Ter) Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A - - IDS_000011 - PubMed: Zhong 2023 - - Germline - - - - - DNA SEQ - - MPS CH100 PubMed: Zhong 2023 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.(?) p.(Arg443Ter) Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A (CGA>TGA) - IDS_000011 - PubMed: Dvorakova 2017 - - De novo - - - - - DNA SEQ - - MPS Pat18 PubMed: Dvorakova 2017 - M - Czech Republic - 32y - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.(?) p.(Arg443Ter) Unknown ACMG pathogenic (recessive) g.148564603G>A g.149483072G>A - - IDS_000011 Two patients are siblings (Narayanan et al., 2016) and two are female (Sohn et al., 2010; PiƱa-Aguilar et al., 2013) PubMed: Zanetti 2024 SCV005089526 rs199422227 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1327C>T r.(?) p.(Arg443Ter) Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A - - IDS_000011 - PubMed: Pina-Aguilar 2013 - - Germline/De novo (untested) - - - - X-chromosome inactivation 92:8 DNA SEQ - - MPS patient PubMed: Pina-Aguilar 2013 2-generation family, 1 affected, unaffected non carrier mother/sister F - Mexico - - - - - 1 Johan den Dunnen
+/. 9 c.1327C>T r.(?) p.(Arg443Ter) Maternal (inferred) - pathogenic (recessive) g.148564603G>A g.149483072G>A R443X - IDS_000011 low iduronate-2-sulfatase activity PubMed: Sohn 2010 - - Germline - - - - X-inactivation could not be determined DNA SEQ - - MPS patient PubMed: Sohn 2010 2-generation family, 2 affected (female and older brother), unaffected carrier daughter F - Korea - - - - - 2 Johan den Dunnen
+/. - c.1327C>T r.(?) p.(Arg443Ter) Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A - - IDS_000011 IDS activity plasma 2.7 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Fam31Pat41 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.1327C>T r.(?) p.(Arg443Ter) Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A - - IDS_000011 IDS activity plasma 3.18 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Fam32Pat42 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.1327C>T r.(?) p.(Arg443Ter) Unknown - pathogenic (recessive) g.148564603G>A g.149483072G>A - - IDS_000011 IDS activity dried blood spot 0.01 (reference 2.5-50 umM/l/h) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Fam33Pat43 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
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