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.

93 entries on 1 page. Showing entries 1 - 93.
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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.1403G>A r.1403g>a p.Arg468Gln Maternal (confirmed) - pathogenic g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Sukegawa 1997, OMIM:var0013 - - Germline - - - - full X-inactivation paternal allele DNA SEQ - - MPS2 family PubMed: Sukegawa 1997, OMIM:var0013 2-generation family, affected brother/sister, carrier mother F - Japan - - - - - 2 Johan den Dunnen
+/. 9 c.1403G>A r.1403g>a p.Arg468Gln Parent #1 - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Li 1995 - - Germline - - -MspI - - DNA SEQ - - MPS2 Pat2 PubMed: Li 1995 - M - United States - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.1403g>a p.Arg468Glu Maternal (confirmed) - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Whitley 1993, OMIM:var0013 - - Germline - - MspI- - - DNA, RNA RT-PCR, SEQ - - MPS2 patient PubMed: Whitley 1993, OMIM:var0013 - M - United States - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.1403g>a p.(Arg468Gln Parent #1 - pathogenic g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Froisart 2007 - - Germline - - - - - DNA SEQ - - MPS2 - - - M - - - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.1403g>a p.Arg468Gln Parent #1 - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Rathmann 1996 - - Germline - - - - - DNA SEQ - - MPS2 Pat17 PubMed: Rathmann 1996 - M - - - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.1403g>a p.Arg468Gln Parent #1 - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Rathmann 1996 - - Germline - - - - - DNA SEQ - - MPS2 Pat16 PubMed: Rathmann 1996 - M - - - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.1403g>a p.Arg468Gln Maternal (confirmed) - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Sukegawa 1995 - - Germline - - HapII- - - DNA SEQ - - MPS2 HT13 PubMed: Sukegawa 1995 - M - Japan - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.1403g>a p.Arg468Gln Parent #1 - pathogenic g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Isogai 1998 - - Germline - - HapII- - - DNA SEQ - - MPS2 HT38 PubMed: Isogai 1998 - M - Japan - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.1403g>a p.Arg468Gln Parent #1 - pathogenic g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Isogai 1998 - - Germline - - HapII- - - DNA SEQ - - MPS2 HT61 PubMed: Isogai 1998 - M - Japan - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Parent #1 - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Filocamo 2001 - - Germline - - -MspI - - DNA SEQ - - MPS2 H3 PubMed: Filocamo 2001 - M - Italy - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.1403g>a p.Arg468Gln Parent #1 - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Filocamo 2001 - - Germline - - -MspI - - DNA SEQ - - MPS2 H55 PubMed: Filocamo 2001 - M - Italy - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Parent #1 - pathogenic g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Filocamo 2001 - - Germline - - -MspI - - DNA SEQ - - MPS2 H7 PubMed: Filocamo 2001 - M - Italy - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Parent #1 - pathogenic g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Filocamo 2001 - - Germline - - -MspI - - DNA SEQ - - MPS2 H8 PubMed: Filocamo 2001 - M - Italy - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.1403g>a p.Arg468Glu Parent #1 - pathogenic g.148564527C>T g.149482996C>T 1527C>A - IDS_000014 - PubMed: Moreira da Silva 2001 - - Germline - - MspI- - - DNA SEQ - - MPS2 H14 PubMed: Moreira da Silva 2001 - M - Portugal - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Parent #1 - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Karsten 1998 - - Germline - - -MspI - - DNA SEQ - - MPS2 Pat35 PubMed: Karsten 1998 - M - Russia - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Parent #1 - pathogenic g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Vafiadaki 1998 - - Germline - - - - - DNA SEQ - - MPS2 DS PubMed: Vafaidaki 1998 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Parent #1 - pathogenic g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Vafiadaki 1998 - - Germline - - - - - DNA SEQ - - MPS2 MA PubMed: Vafaidaki 1998 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Parent #1 - pathogenic g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Vafiadaki 1998 - - Germline - - - - - DNA SEQ - - MPS2 NM PubMed: Vafaidaki 1998 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Parent #1 - pathogenic g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Vafiadaki 1998 - - Germline - - - - - DNA SEQ - - MPS2 OS PubMed: Vafaidaki 1998 - M - Sweden - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Parent #1 - pathogenic g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Filocamo 2001 - - Germline - - -MspI - - DNA SEQ - - MPS2 H12 PubMed: Filocamo 2001 - M - Italy - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Maternal (confirmed) - pathogenic g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - - Germline - - - - - DNA SEQ - - MPS2 IDS71 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - - - - 1 Miguel Angel Alcántara-Ortigoza
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Amartino 2014 - - De novo - - - - - DNA SEQ - - MPS2 Fam10 PubMed: Amartino 2014 patient M - Argentina - - - - - 1 Paula Rozenfeld
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Maternal (confirmed) - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Amartino 2014 - - Germline - - - - - DNA SEQ - - MPS2 Fam11 PubMed: Amartino 2014 2-generation family, 1 affected, unaffected carrier mother M - Argentina - - - - - 1 Paula Rozenfeld
+/. - c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T R468Q - IDS_000014 - PubMed: Parkinson 2004 - - Germline - - - - - DNA SEQ - - MPS patient PubMed: Parkinson 2004 family, 3 affected M - Australia - - - - - 3 Johan den Dunnen
+/. - c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T R468Q - IDS_000014 - PubMed: Parkinson 2004 - - Germline - - - - - DNA SEQ - - MPS patient PubMed: Parkinson 2004 sib M - Australia - - - - - 1 Johan den Dunnen
+/. - c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T R468Q - IDS_000014 - PubMed: Parkinson 2004 - - Germline - - - - - DNA SEQ - - MPS patient PubMed: Parkinson 2004 sib M - Australia - - - - - 1 Johan den Dunnen
+/. - c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Villani 1997 - - Germline - - - - - DNA SEQ, SSCA - - MPS PatMG PubMed: Villani 1997 - M - Italy - - - - - 1 Johan den Dunnen
+/. - c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Goldenfum 1996 - - Germline - - - - - DNA SEQ - - MPS PatH5 PubMed: Goldenfum 1996 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Goldenfum 1996 - - Germline - - - - - DNA SEQ - - MPS PatH12 PubMed: Goldenfum 1996 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T 1527G>A - IDS_000014 - PubMed: Lissens 1997 - - Germline - - - - - DNA SEQ, SSCA - - MPS Pat18 PubMed: Lissens 1997 patient M - Argentina - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.1403g>a p.Arg468Gln Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T R468Q - IDS_000014 - PubMed: Froissart 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPS Pat45 PubMed: Froissart 1998 patient M - France - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.1403g>a p.Arg468Gln Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T R468Q - IDS_000014 - PubMed: Froissart 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPS Pat46 PubMed: Froissart 1998 patient M - France - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.1403g>a p.Arg468Gln Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T R468Q - IDS_000014 - PubMed: Froissart 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPS Pat47 PubMed: Froissart 1998 patient M - France - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.1403g>a p.Arg468Gln Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T R468Q - IDS_000014 - PubMed: Froissart 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPS Pat48 PubMed: Froissart 1998 patient M - France - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Isogai 1998 - - Germline - - - - - DNA HD, SEQ, SSCA - - MPS HT13 PubMed: Isogai 1998 - M - Japan - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Parent #1 - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Li 1999 - - Germline - - - - - DNA SEQ - - MPS Pat10 PubMed: Li 1999 patient M - United States - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Parent #1 - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Li 1999 - - Germline - - - - - DNA SEQ - - MPS Pat11 PubMed: Li 1999 patient M - United States - - - - - 1 Johan den Dunnen
+/. - c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T R468Q - IDS_000014 cDNA expression cloning COS7 cells <0.01 enzyme activity Lin ESHG2000 (P183), PubMed: Lin 2006, PubMed: Chang 2005 - - Germline - - - - - DNA SEQ - - MPS 1150;Pat16 Lin ESHG2000 (P183), PubMed: Lin 2006, PubMed: Chang 2005 2-generation family, 1 affected, unaffected carrier mother/sister M - Taiwan - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Maternal (confirmed) - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Keeratichamroen 2008 - - Germline - - HpaII - - DNA SEQ - - MPS Pat3 PubMed: Keeratichamroen 2008 patient, no family history M - Thailand - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T R468Q G>A - IDS_000014 - PubMed: Lin 2006 - - Germline - - - - - DNA SEQ - - MPS2 825 PubMed: Lin 2006 patient M - Taiwan - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T R468Q G>A - IDS_000014 - PubMed: Lin 2006 - - Germline - - - - - DNA SEQ - - MPS2 1634 PubMed: Lin 2006 - M - Taiwan - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Zhang 2011 - - Germline - - - - - DNA SEQ - - MPS patient PubMed: Zhang 2011 - M - China - - - - - 1 Johan den Dunnen
+/. - c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Sohn 2012 - - Germline - - - - - DNA SEQ - - MPS KH21 PubMed: Sohn 2012 - M - Korea - - - - - 1 Johan den Dunnen
+/. - c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Charoenwattanasatien 2012 - - Germline - - - - - DNA SEQ - - MPS Pat3 PubMed: Charoenwattanasatien 2012 - M - Thailand - - - - - 1 Johan den Dunnen
+/. - c.1403G>A r.(?) p.(Arg468Gln) Maternal (confirmed) - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Amartino 2014 - - Germline - - - - - DNA SEQ - - MPS Fam8 PubMed: Amartino 2014 2-generation family, 4 affected, unaffected carrier mother M - Argentina - - - - - 4 Johan den Dunnen
+/. - c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Amartino 2014 - - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Fam23 PubMed: Amartino 2014 patient M - Argentina - - - - - 1 Johan den Dunnen
+/. - c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T R468Q - IDS_000014 - PubMed: Brusius-Facchin 2014 - - Germline - - - - - DNA SEQ, SSCA - - SDSX H101 PubMed: Brusius-Facchin 2014 - M - Argentina America-S - - - - 1 Johan den Dunnen
+/. - c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Cobos 2015 - - Germline - - - - - DNA SEQ - - ? MPS2-Pat3 PubMed: Cobos 2015 - M - Lithuania - - - - - 1 Johan den Dunnen
+/. - c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Cobos 2015 - - Germline - - - - - DNA SEQ - - ? MPS2-Pat6 PubMed: Cobos 2015 - M - Mexico - - - - - 1 Johan den Dunnen
+/. - c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Cobos 2015 - - Germline - - - - - DNA SEQ - - ? MPS2-Pat9 PubMed: Cobos 2015 - M - Mexico - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Maternal (confirmed) - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Uttarilli 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - MPS IDS-26 PubMed: Uttarilli 2016 2-generation family, 2 affected brothers, carrier mother M no India - - - - - 2 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Uttarilli 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - MPS IDS-27 PubMed: Uttarilli 2016 - M no India - - - - - 1 Johan den Dunnen
+/. - c.1403G>A - p.(Arg468Gln) Unknown - NA g.148564527C>T g.149482996C>T - - IDS_000014 in vitro cDNA expression COS7 cells no detectable enzyme activity PubMed: Lin 2019 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Parent #2 - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Lin 2019 - - Germline - - - - - DNA SEQ - - MPS - PubMed: Lin 2019 - M - Taiwan - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Fang 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - MPS Pat24 PubMed: Fang 2022 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 deficient iduronate 2-sulfatase levels PubMed: Agrawal 2022 SCV001480198 - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Pat41 PubMed: Agrawal 2022 patient, no family history M - India - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Josahkian 2021 - - Germline - - - - - DNA SEQ - - MPS - PubMed: Josahkian 2021 patient - - Brazil - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Josahkian 2021 - - Germline - - - - - DNA SEQ - - MPS - PubMed: Josahkian 2021 patient - - Brazil - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Josahkian 2021 - - Germline - - - - - DNA SEQ - - MPS - PubMed: Josahkian 2021 patient - - Brazil - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Josahkian 2021 - - Germline - - - - - DNA SEQ - - MPS - PubMed: Josahkian 2021 patient - - Brazil - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Kosuga 2016 - - Germline - - - - - DNA SEQ - - MPS Pat33 PubMed: Kosuga 2016 - M - Japan - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Kosuga 2016 - - Germline - - - - - DNA SEQ - - MPS Pat34 PubMed: Kosuga 2016 - M - Japan - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Kosuga 2016 - - Germline - - - - - DNA SEQ - - MPS Pat74 PubMed: Kosuga 2016 - M - Japan - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Zhang 2019 - - Germline - - - - - DNA SEQ - - MPS Pat25 PubMed: Zhang 2019 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Zhang 2019 - - Germline - - - - - DNA SEQ - - MPS Pat26 PubMed: Zhang 2019 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Zhong 2023 - - Germline - - - - - DNA SEQ - - MPS CH63 PubMed: Zhong 2023 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Zhong 2023 - - Germline - - - - - DNA SEQ - - MPS CH64 PubMed: Zhong 2023 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Zhong 2023 - - Germline - - - - - DNA SEQ - - MPS CH65 PubMed: Zhong 2023 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Zhong 2023 - - Germline - - - - - DNA SEQ - - MPS CH66 PubMed: Zhong 2023 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Zhong 2023 - - Germline - - - - - DNA SEQ - - MPS CH67 PubMed: Zhong 2023 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Zhong 2023 - - Germline - - - - - DNA SEQ - - MPS CH68 PubMed: Zhong 2023 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Zhong 2023 - - Germline - - - - - DNA SEQ - - MPS CH69 PubMed: Zhong 2023 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Zhong 2023 - - Germline - - - - - DNA SEQ - - MPS CH70 PubMed: Zhong 2023 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Zhong 2023 - - Germline - - - - - DNA SEQ - - MPS CH71 PubMed: Zhong 2023 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Maternal (confirmed) - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Zhao 2021 - - Germline - - - - - DNA SEQ - - MPS Pat8 PubMed: Zhao 2021 - M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Maternal (confirmed) - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Chiong 2017 - - Germline - - - - - DNA SEQ - - MPS Pat7 PubMed: Chiong 2017 - M - Philippines - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Maternal (confirmed) - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Chiong 2017 - - Germline - - - - - DNA SEQ - - MPS Pat8 PubMed: Chiong 2017 - M - Philippines - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Maternal (confirmed) - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Chiong 2017 - - Germline - - - - - DNA SEQ - - MPS Pat10 PubMed: Chiong 2017 - M - Philippines - - - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.1403g>a p.Arg468Gln Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 - PubMed: Reboun 2016, PubMed: Dvorakova 2017 - - De novo - - - - extreme skewing X-inactivation in blood leukocytes and buccal swabs DNA SEQ - - MPS patient;Pat6 PubMed: Reboun 2016, PubMed: Dvorakova 2017 2-generation family, 1 affected, unaffected non-carrier mother F - Ukraine - >05y - - - 1 Johan den Dunnen
+/. 9 c.1403G>A r.(?) p.(Arg468Gln) Unknown ACMG pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 Three patients are siblings (Parkinson et al,.,2004) and two are female (Dvorakova et al., 2017; Sukegawa et al., 1997). In one patient the variant is described in cis with c.1394A>T (Amartino et al., 2014) and is reported in HGMD 2022.3 as a unique delins (CX149681) PubMed: Zanetti 2024 SCV000929887.1 rs113993946 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1403G>A r.1403G>T p.Arg468Leu Maternal (confirmed) - pathogenic (recessive) g.148564527C>A g.149482996C>A - - IDS_000014 - PubMed: Sukegawa 1998 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - MPS FamPat2 PubMed: Sukegawa 1998 brother M - Japan - - - - - 1 Johan den Dunnen
+/. - c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 IDS activity 0.32 nmol/mg protein/h (ref. 7.5–55.1) PubMed: Galvis 2015 - - Germline - - - - - DNA SEQ - - MPS Pat003 PubMed: Galvis 2015 patient, no family history M - Colombia - - - - - 1 Johan den Dunnen
+/. - c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 IDS activity 1.6 nmol/mg protein/h (ref. 7.5–55.1) (dried blood spot) PubMed: Galvis 2015 - - Germline - - - - - DNA SEQ - - MPS Pat008 PubMed: Galvis 2015 family, proband and brother M - Colombia - - - - - 1 Johan den Dunnen
+/. - c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Fam102Pat116 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 IDS activity plasma 0.9 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline - - - - - DNA SEQ - - MPS Fam102Pat117 PubMed: Semyachkina 2021 family, 2 affected (2M) M - Russia - - - - - 2 Johan den Dunnen
+/. - c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline - - - - - DNA SEQ - - MPS Fam103Pat118 PubMed: Semyachkina 2021 relative M - Russia - - - - - 1 Johan den Dunnen
+/. - c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 IDS activity plasma 1.4 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Fam104Pat119 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Fam105Pat120 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 IDS activity plasma 6.3 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline - - - - - DNA SEQ - - MPS Fam105Pat121 PubMed: Semyachkina 2021 family, 2 affected (2M) M - Russia - - - - - 2 Johan den Dunnen
+/. - c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 IDS activity plasma 2.8 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline - - - - - DNA SEQ - - MPS Fam106Pat122 PubMed: Semyachkina 2021 relative M - Russia - - - - - 1 Johan den Dunnen
+/. - c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 IDS activity plasma 10.8 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Fam107Pat123 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Fam108Pat124 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.1403G>A r.(?) p.(Arg468Gln) Unknown - pathogenic (recessive) g.148564527C>T g.149482996C>T - - IDS_000014 IDS activity plasma 3.12 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Fam109Pat125 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
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