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.

69 entries on 1 page. Showing entries 1 - 69.
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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.1402C>T r.1402c>u p.Arg468Trp Parent #1 - pathogenic g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Isogai 1998 - - Germline - - HapII- - - DNA SEQ - - MPS2 HT40 PubMed: Isogai 1998 - M - Japan - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.1402c>u p.Arg468Trp Parent #1 - pathogenic g.148564528G>A g.149482997G>A 1526C>T - IDS_000043 - PubMed: Moreira da Silva 2001 - - Germline - - NciI- - - DNA SEQ - - MPS2 H13 PubMed: Moreira da Silva 2001 - M - Portugal - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T - p.Arg468Trp Unknown - NA g.148564528G>A g.149482997G>A - - IDS_000043 expression cloning PubMed: Crotty 1992, OMIM:var0012 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Parent #1 - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Crotty 1992, OMIM:var0012 - - Germline - - MspI- - - DNA SEQ - - MPS2 patient PubMed: Crotty 1992 - M - United States - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Parent #1 - pathogenic g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Froisart 2007 - - Germline - - - - - DNA SEQ - - MPS2 - - - M - - - - - - - 1 Johan den Dunnen
+/. 9a c.1402C>T r.(?) p.(Arg468Trp) Parent #1 - pathogenic g.148564528G>A g.149482997G>A - - IDS_000043 - - - - Germline - - - - - DNA SEQ - - MPS2 - - - M - Argentina - - - - - 1 Paula Rozenfeld
+/. 9 c.1402C>T r.1042c>u p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Popowska 1995 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPS HP14 PubMed: Popowska 1995 - M - Poland - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.1402c>u p.Arg468Trp Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Jonsson 1995 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPS patient PubMed: Jonsson 1995 - M - United States - - - - - 1 Johan den Dunnen
+/. - c.1402C>T r.1402c>u p.Arg468Trp Maternal (confirmed) - pathogenic (recessive) g.148564528G>A g.149482997G>A C1526T - IDS_000043 - PubMed: Schroder 1994 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPS PatG-36 PubMed: Schroder 1994 - M - Germany - - - - - 1 Johan den Dunnen
+/. - c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Goldenfum 1996 - - Germline - - - - - DNA SEQ - - MPS PatH19 PubMed: Goldenfum 1996 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A 1526C>T - IDS_000043 - PubMed: Lissens 1997 - - Germline - - - - - DNA SEQ, SSCA - - MPS Pat17 PubMed: Lissens 1997 patient M - France - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.1402c>u p.Arg468Trp Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A R468W - IDS_000043 - PubMed: Froissart 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPS Pat40 PubMed: Froissart 1998 patient M - France - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.1402c>u p.Arg468Trp Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A R468W - IDS_000043 - PubMed: Froissart 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPS Pat41 PubMed: Froissart 1998 patient M - France - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.1402c>u p.Arg468Trp Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A R468W - IDS_000043 - PubMed: Froissart 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPS Pat42 PubMed: Froissart 1998 patient M - France - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.1402c>u p.Arg468Trp Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A R468W - IDS_000043 - PubMed: Froissart 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPS Pat43 PubMed: Froissart 1998 patient M - France - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.1402c>u p.Arg468Trp Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A R468W - IDS_000043 - PubMed: Froissart 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPS Pat44 PubMed: Froissart 1998 patient M - France - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A 1526C>T - IDS_000043 - PubMed: Hartog 1999 - - Germline - - - - - DNA SEQ - - MPS U42 PubMed: Hartog 1999 patient M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Li 1999 - - Germline - - - - - DNA SEQ - - MPS Pat9 PubMed: Li 1999 patient M - United States - - - - - 1 Johan den Dunnen
+/. - c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A R468W - IDS_000043 cDNA expression cloning COS7 cells <0.01 enzyme activity Lin ESHG2000 (P183), PubMed: Lin 2006, PubMed: Chang 2005 - - Germline - - - - - DNA SEQ - - MPS 252;Pat17 Lin ESHG2000 (P183), PubMed: Lin 2006, PubMed: Chang 2005 patient M - Taiwan - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 no detectable enzyme activity PubMed: Kato 2005 - - Germline - - - - - DNA SEQ - - MPS Pat1 PubMed: Kato 2005 patient M - Japan - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A R468W C>T - IDS_000043 - PubMed: Lin 2006 - - Germline - - - - - DNA SEQ - - MPS2 749 PubMed: Lin 2006 - M - Taiwan - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A R468W C>T - IDS_000043 - PubMed: Lin 2006 - - Germline - - - - - DNA SEQ - - MPS2 854 PubMed: Lin 2006 - M - Taiwan - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Zhang 2011 - - Germline - - - - - DNA SEQ - - MPS patient PubMed: Zhang 2011 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Zhang 2011 - - Germline - - - - - DNA SEQ - - MPS patient PubMed: Zhang 2011 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Zhang 2011 - - Germline - - - - - DNA SEQ - - MPS patient PubMed: Zhang 2011 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Maternal (confirmed) - pathogenic (recessive) g.148564528G>A g.149482997G>A [1267C>T;1402C>T] - IDS_000043 [1267C>T;1402C>T] PubMed: Zhang 2011 - - Germline - - - - - DNA SEQ - - MPS patient PubMed: Zhang 2011 2-generation family, 1 affected, unaffected carrier mother M - China - - - - - 1 Johan den Dunnen
+/. - c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Sohn 2012 - - Germline - - - - - DNA SEQ - - MPS KH20 PubMed: Sohn 2012 - M - Korea - - - - - 1 Johan den Dunnen
+/. - c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Sohn 2012 - - Germline - - - - - DNA SEQ - - MPS KH70 PubMed: Sohn 2012 - M - Korea - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Gucev 2011 - - Germline - - - - - DNA SEQ - - MPS Pat3 PubMed: Gucev 2011 - M - Bulgaria - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Gucev 2011 - - Germline - - - - - DNA SEQ - - MPS Pat11 PubMed: Gucev 2011 - M - Bulgaria - - - - - 1 Johan den Dunnen
+/. - c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A R468W - IDS_000043 - PubMed: Brusius-Facchin 2014 - - Germline - - - - - DNA SEQ, SSCA - - SDSX H96 PubMed: Brusius-Facchin 2014 - M - Brazil America-S - - - - 1 Johan den Dunnen
+/. - c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A R468W - IDS_000043 - PubMed: Brusius-Facchin 2014 - - Germline - - - - - DNA SEQ, SSCA - - SDSX H97 PubMed: Brusius-Facchin 2014 - M - Brazil America-S - - - - 1 Johan den Dunnen
+/. - c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A R468W - IDS_000043 - PubMed: Brusius-Facchin 2014 - - Germline - - - - - DNA SEQ, SSCA - - SDSX H98 PubMed: Brusius-Facchin 2014 - M - Brazil America-S - - - - 1 Johan den Dunnen
+/. - c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A R468W - IDS_000043 - PubMed: Brusius-Facchin 2014 - - Germline - - - - - DNA SEQ, SSCA - - SDSX H99 PubMed: Brusius-Facchin 2014 - M - Brazil America-S - - - - 1 Johan den Dunnen
+/. - c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A R468W - IDS_000043 - PubMed: Brusius-Facchin 2014 - - Germline - - - - - DNA SEQ, SSCA - - SDSX H100 PubMed: Brusius-Facchin 2014 - M - Argentina America-S - - - - 1 Johan den Dunnen
+/. - c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A C1672T - IDS_000043 - PubMed: Liu 2002 - - Germline - - - - - DNA SEQ - - MPS2 patient PubMed: Liu 2002 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Uttarilli 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - MPS IDS-25 PubMed: Uttarilli 2016 - M no India - - - - - 1 Johan den Dunnen
+/. - c.1402C>T - p.(Arg468Trp) Unknown - NA g.148564528G>A g.149482997G>A - - IDS_000043 in vitro cDNA expression COS7 cells no detectable enzyme activity PubMed: Lin 2019 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Parent #2 - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Lin 2019 - - Germline - - - - - DNA SEQ - - MPS - PubMed: Lin 2019 - M - Taiwan - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 ACMG PM3, PP3, PP4 PubMed: Fang 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - MPS Pat23 PubMed: Fang 2022 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Maternal (inferred) - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Agrawal 2022 SCV001480197 - Germline - - - - - DNA SEQ - - MPS Pat37 PubMed: Agrawal 2022 patient, family history M - India - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Agrawal 2022 SCV001480197 - De novo - - - - - DNA SEQ - - MPS Pat38 PubMed: Agrawal 2022 patient, no family history, unaffected non-carrier mother M - India - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Maternal (inferred) - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Agrawal 2022 SCV001573783 - Germline - - - - - DNA SEQ - - MPS Pat39.1/2 PubMed: Agrawal 2022 family, 2 affected, family history M - India - - - - - 2 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Agrawal 2022 SCV001573783 - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Pat40 PubMed: Agrawal 2022 patient, no family history M - India - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Josahkian 2021 - - Germline - - - - - DNA SEQ - - MPS - PubMed: Josahkian 2021 patient - - Brazil - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Josahkian 2021 - - Germline - - - - - DNA SEQ - - MPS - PubMed: Josahkian 2021 patient - - Brazil - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Josahkian 2021 - - Germline - - - - - DNA SEQ - - MPS - PubMed: Josahkian 2021 patient - - Brazil - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Josahkian 2021 - - Germline - - - - - DNA SEQ - - MPS - PubMed: Josahkian 2021 patient - - Brazil - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Josahkian 2021 - - Germline - - - - - DNA SEQ - - MPS - PubMed: Josahkian 2021 patient - - Brazil - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Josahkian 2021 - - Germline - - - - - DNA SEQ - - MPS - PubMed: Josahkian 2021 patient - - Brazil - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Zhang 2019 - - Germline - - - - - DNA SEQ - - MPS Pat22 PubMed: Zhang 2019 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Zhang 2019 - - Germline - - - - - DNA SEQ - - MPS Pat23 PubMed: Zhang 2019 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Zhang 2019 - - Germline - - - - - DNA SEQ - - MPS Pat24 PubMed: Zhang 2019 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Zhong 2023 - - Germline - - - - - DNA SEQ - - MPS CH62 PubMed: Zhong 2023 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Zhong 2023 - - Germline - - - - - DNA SEQ - - MPS CH63 PubMed: Zhong 2023 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Zhong 2023 - - Germline - - - - - DNA SEQ - - MPS CH64 PubMed: Zhong 2023 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Zhong 2023 - - Germline - - - - - DNA SEQ - - MPS CH65 PubMed: Zhong 2023 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Zhong 2023 - - Germline - - - - - DNA SEQ - - MPS CH66 PubMed: Zhong 2023 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Zhong 2023 - - Germline - - - - - DNA SEQ - - MPS CH67 PubMed: Zhong 2023 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Maternal (confirmed) - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Zhao 2021 - - Germline - - - - - DNA SEQ - - MPS Pat2 PubMed: Zhao 2021 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Maternal (confirmed) - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Chiong 2017 - - Germline - - - - - DNA SEQ - - MPS Pat13 PubMed: Chiong 2017 - M - Philippines - - - - - 1 Johan den Dunnen
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Unknown ACMG pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 In one patient is described in cis with 418+12T>C (Alkhzouz et al., 2017) and in one patient with c.1267C>T (Zhang et al., 2011) PubMed: Zanetti 2024 SCV005089553 rs199422231 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1402C>T r.(?) p.(Arg468Trp) Parent #1 - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 IDS enzyme activity dried blood spot <0.8 umol/l/h PubMed: Alkhzouz 2017 - - Germline - - - - - DNA SEQ - - MPS H5 PubMed: Alkhzouz 2017 - M - Romania - - - - - 1 Johan den Dunnen
+/. - c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 IDS activity plasma 5.4 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Fam97Pat111 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 IDS activity plasma 0.1 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Fam98Pat112 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Fam99Pat113 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 IDS activity plasma 0.1 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Fam100Pat114 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.1402C>T r.(?) p.(Arg468Trp) Unknown - pathogenic (recessive) g.148564528G>A g.149482997G>A - - IDS_000043 IDS activity dried blood spot 0.01 (reference 2.5-50 umM/l/h) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Fam101Pat115 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+?/. - c.1402C>T r.(?) p.(Arg468Trp) Unknown - likely pathogenic (dominant) g.148564528G>A g.149482997G>A - - IDS_000043 - PubMed: Jacob 2025 SCV002507185.1 - De novo - - - - - DNA SEQ, SEQ-NG - - skeletal dysplasia - PubMed: Jacob 2025 2-generation family, 1 affected, unaffected non-carrier parents - - India - - - - - 1 Johan den Dunnen
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