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.

95 entries on 1 page. Showing entries 1 - 95.
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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     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 8 c.1122C>T r.1121_1180del p.Glu375_Gly394del Parent #1 - pathogenic (recessive) g.148568514G>A g.149486983G>A 1246C>T - IDS_000024 - PubMed: Flomen 1992, OMIM:var0006 - - Germline - - HphI+ - - DNA SEQ - - MPS2 Pat3 PubMed: Flomen 1992 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.1121_1180del p.Glu375_Gly394del Parent #1 - pathogenic (recessive) g.148568514G>A g.149486983G>A 1246C>T - IDS_000024 - PubMed: Rathmann 1996 - - Germline - - - - - DNA SEQ - - MPS2 Pat26 PubMed: Rathmann 1996 - M - - - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.1121_1180del p.Glu375_Gly394del Parent #1 - pathogenic g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Filocamo 2001 - - Germline - - +HphI - - DNA SEQ - - MPS2 H61 PubMed: Filocamo 2001 - M - Italy - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.1121_1180del p.Glu375_Gly394del Parent #1 - pathogenic g.148568514G>A g.149486983G>A - - IDS_000024 One major abnormal transcript (20 amino acids deletion) PubMed: Moreira da Silva 2001 - - Germline - - HphI+ - - DNA SEQ - - MPS2 H6 PubMed: Moreira da Silva 2001 - M - Portugal - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.1121_1180del p.Glu375_Gly394del Parent #1 - pathogenic g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Moreira da Silva 2001 - - Germline - - HphI+ - - DNA SEQ - - MPS2 H7 PubMed: Moreira da Silva 2001 - M - Portugal - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.1121_1180del p.Glu375_Gly394del Parent #1 - pathogenic g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Moreira da Silva 2001 - - Germline - - HphI+ - - DNA SEQ - - MPS2 H8 PubMed: Moreira da Silva 2001 - M - Portugal - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.1121_1180del p.Glu375_Gly394del Parent #1 - likely pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Bunge 1992 - - Germline - - +HphI - - DNA SEQ - - MPS2 H12 PubMed: Bunge 1992 - M - Germany - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.1121_1180del p.Glu375_Gly394del Parent #1 - pathogenic g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Balzano 1997, PubMed: Balzano 1998 - - Germline - - +HphI - - DNA SEQ - - MPS2 H48;PatCC PubMed: Balzano 1997, PubMed: Balzano 1998 - M - - - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.spl? p.(Glu375_Gly394del) Parent #1 - pathogenic g.148568514G>A g.149486983G>A - - IDS_000024 - {PMID:Hartog 1999} - - Germline - - +HphI - - DNA SEQ - - MPS2 - - - M - - - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.1121_1180del p.Glu375_Gly394del Parent #1 - pathogenic g.148568514G>A g.149486983G>A C>T G374G - IDS_000024 - PubMed: Vafiadaki 1998 - - Germline - - - - - DNA SEQ - - MPS2 SSC PubMed: Vafaidaki 1998 - M - Korea - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.[1121_1180del,1122C>T] p.[Glu375_Gly394del,=] Parent #1 - pathogenic g.148568514G>A g.149486983G>A - - IDS_000024 RNA level 0.9 of normal; in-vitro splicing assay confirms splice effect PubMed: Matos 2015, PubMed: Alves 2006 - - Germline - - - - - DNA SEQ - - MPS2 - PubMed: Alves 2006 - M - Portugal - - - - - 1 Yu Sun
+/. 8 c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Maternal (confirmed) - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Amartino 2014 - - Germline - - - - - DNA SEQ - - MPS2 Fam35 PubMed: Amartino 2014 2-generation family, 1 affected, unaffected carrier mother M - Argentina - - - - - 1 Paula Rozenfeld
+/. 8 c.1122C>T r.[1121_1180del,1122c>u] p.[Glu375_Gly394del,Gly374=] Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A 1246C>T spl - IDS_000024 - PubMed: Popowska 1995 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPS HP3 PubMed: Popowska 1995 - M - Poland - - - - - 1 Johan den Dunnen
+/. - c.1122C>T r.1121_1180del p.Glu375_Gly394del Parent #1 - pathogenic (recessive) g.148568514G>A g.149486983G>A 375-394del - IDS_000024 - PubMed: Bunge 1992, PubMed: Bunge 1993 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPS H10 PubMed: Bunge 1992, PubMed: Bunge 1993 - M - Germany - - - - - 1 Johan den Dunnen
+/. - c.1122C>T r.1121_1180del p.Glu375_Gly394del Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Hopwood 1993 (Wilson, unpublished) - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPS Pat23 PubMed: Hopwood 1993 (Wilson, unpublished) - M - - - - - - - 1 Johan den Dunnen
+/. - c.1122C>T r.1121_1180del p.Glu375_Gly394del Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A 1246C>T - IDS_000024 - PubMed: Ben Simon-Schiff 1994 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPS PatB PubMed: Ben Simon-Schiff 1994 - M - Israel jew - - - - 1 Johan den Dunnen
+/. - c.1122C>T r.1121_1180del p.Glu375_Gly394del Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A 1246C>T - IDS_000024 - PubMed: Ben Simon-Schiff 1994 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPS PatC PubMed: Ben Simon-Schiff 1994 - M - Israel jew - - - - 1 Johan den Dunnen
+/. - c.1122C>T r.1121_1180del p.Glu375_Gly394del Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A 1246C>T - IDS_000024 - PubMed: Ben Simon-Schiff 1994 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPS PatR PubMed: Ben Simon-Schiff 1994 - M - Israel jew - - - - 1 Johan den Dunnen
+/. - c.1122C>T r.1121_1180del p.Glu375_Gly394del Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Goldenfum 1996 - - Germline - - - - - DNA SEQ - - MPS PatH8 PubMed: Goldenfum 1996 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.1122C>T r.1121_1180del p.Glu375_Gly394del Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Goldenfum 1996 - - Germline - - - - - DNA SEQ - - MPS PatH9 PubMed: Goldenfum 1996 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.1122C>T r.1121_1180del p.Glu375_Gly394del Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Karsten 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - MPS Pat6 PubMed: Karsten 1998 - M - Russia - - - - - 1 Johan den Dunnen
+/. - c.1122C>T r.1121_1180del p.Glu375_Gly394del Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Karsten 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - MPS Pat11 PubMed: Karsten 1998 - M - Russia - - - - - 1 Johan den Dunnen
+/. - c.1122C>T r.1121_1180del p.Glu375_Gly394del Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Karsten 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - MPS Pat13 PubMed: Karsten 1998 - M - Russia - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A 1246C>T - IDS_000024 - PubMed: Lissens 1997 - - Germline - - - - - DNA SEQ, SSCA - - MPS Pat11 PubMed: Lissens 1997 patient M - Argentina - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A 1246C>T - IDS_000024 - PubMed: Lissens 1997 - - Germline - - - - - DNA SEQ, SSCA - - MPS Pat12 PubMed: Lissens 1997 patient M - Spain - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A 1246C>T - IDS_000024 - PubMed: Lissens 1997 - - Germline - - - - - DNA SEQ, SSCA - - MPS Pat13 PubMed: Lissens 1997 patient M - Spain - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A 1246C>T - IDS_000024 - PubMed: Lissens 1997 - - Germline - - - - - DNA SEQ, SSCA - - MPS Pat14 PubMed: Lissens 1997 patient M - Spain - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A G347sp - IDS_000024 not in 100 control chromosomes PubMed: Gort 1998, PubMed: Gort 1998 - - Germline - - - - - DNA SEQ, SSCA - - MPS H8 PubMed: Gort 1998, PubMed: Gort 1998 patient M - Spain - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A G347sp - IDS_000024 not in 100 control chromosomes PubMed: Gort 1998, PubMed: Gort 1998 - - Germline - - - - - DNA SEQ, SSCA - - MPS H10 PubMed: Gort 1998, PubMed: Gort 1998 patient M - Spain - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A G347sp - IDS_000024 not in 100 control chromosomes PubMed: Gort 1998, PubMed: Gort 1998 - - Germline - - - - - DNA SEQ, SSCA - - MPS H70 PubMed: Gort 1998, PubMed: Gort 1998 patient M - Spain - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A 1246C>T - IDS_000024 - PubMed: Hartog 1999 - - Germline - - - - - DNA SEQ - - MPS U68 PubMed: Hartog 1999 patient M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Li 1999 - - Germline - - - - - DNA SEQ - - MPS Pat28 PubMed: Li 1999 patient M - United States - - - - - 1 Johan den Dunnen
+/. - c.1122C>T r.spl p.? Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A G374sp - IDS_000024 - PubMed: Chang 2005 - - Germline - - HphI+ - - DNA SEQ - - MPS Pat8 PubMed: Chang 2005 patient M - Taiwan - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.spl p.? Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 no detectable enzyme activity PubMed: Kato 2005 - - Germline - - - - - DNA SEQ - - MPS Pat11 PubMed: Kato 2005 patient M - Japan - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.spl p.? Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 no detectable enzyme activity PubMed: Kato 2005 - - Germline - - - - - DNA SEQ - - MPS Pat17 PubMed: Kato 2005 patient M - Japan - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Glu375_gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A G374G E375_G394del - IDS_000024 - PubMed: Lualdi 2006 - - Germline - - - - - DNA SEQ - - MPS H145 PubMed: Lualdi 2006 patient M - Italy - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Glu375_gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A G374G E375_G394del - IDS_000024 - PubMed: Lualdi 2006 - - Germline - - - - - DNA SEQ - - MPS H152 PubMed: Lualdi 2006 patient M - Albania - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Zhang 2011 - - Germline - - - - - DNA SEQ - - MPS patient PubMed: Zhang 2011 - M - China - - - - - 1 Johan den Dunnen
+/. - c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Sohn 2012 - - Germline - - - - - DNA SEQ - - MPS KH18 PubMed: Sohn 2012 - M - Korea - - - - - 1 Johan den Dunnen
+/. - c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Sohn 2012 - - Germline - - - - - DNA SEQ - - MPS KH25 PubMed: Sohn 2012 - M - Korea - - - - - 1 Johan den Dunnen
+/. - c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Sohn 2012 - - Germline - - - - - DNA SEQ - - MPS KH33 PubMed: Sohn 2012 - M - Korea - - - - - 1 Johan den Dunnen
+/. - c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Sohn 2012 - - Germline - - - - - DNA SEQ - - MPS KH34 PubMed: Sohn 2012 - M - Korea - - - - - 1 Johan den Dunnen
+/. - c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Sohn 2012 - - Germline - - - - - DNA SEQ - - MPS KH35 PubMed: Sohn 2012 - M - Korea - - - - - 1 Johan den Dunnen
+/. - c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Sohn 2012 - - Germline - - - - - DNA SEQ - - MPS KH50 PubMed: Sohn 2012 - M - Korea - - - - - 1 Johan den Dunnen
+/. - c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Sohn 2012 - - Germline - - - - - DNA SEQ - - MPS KH63 PubMed: Sohn 2012 - M - Korea - - - - - 1 Johan den Dunnen
+/. 9 c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Maternal (confirmed) - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Amartino 2014 - - Germline - - - - - DNA SEQ - - MPS Fam39 PubMed: Amartino 2014 2-generation family, 1 affected, unaffected carrier mother M - Argentina - - - - - 1 Johan den Dunnen
+/. 9 c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Maternal (confirmed) - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Amartino 2014 - - Germline - - - - - DNA SEQ - - MPS Fam40 PubMed: Amartino 2014 2-generation family, 2 affected, unaffected carrier mother M - Argentina - - - - - 2 Johan den Dunnen
+/. - c.1122C>T r.spl p.? Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Brusius-Facchin 2014 - - Germline - - - - - DNA SEQ, SSCA - - SDSX H77 PubMed: Brusius-Facchin 2014 - M - Brazil America-S - - - - 1 Johan den Dunnen
+/. - c.1122C>T r.spl p.? Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Brusius-Facchin 2014 - - Germline - - - - - DNA SEQ, SSCA - - SDSX H78 PubMed: Brusius-Facchin 2014 - M - Brazil America-S - - - - 1 Johan den Dunnen
+/. - c.1122C>T r.spl p.? Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Brusius-Facchin 2014 - - Germline - - - - - DNA SEQ, SSCA - - SDSX H79 PubMed: Brusius-Facchin 2014 - M - Brazil America-S - - - - 1 Johan den Dunnen
+/. - c.1122C>T r.spl p.? Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Brusius-Facchin 2014 - - Germline - - - - - DNA SEQ, SSCA - - SDSX H80 PubMed: Brusius-Facchin 2014 - M - Brazil America-S - - - - 1 Johan den Dunnen
+/. - c.1122C>T r.spl p.? Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Brusius-Facchin 2014 - - Germline - - - - - DNA SEQ, SSCA - - SDSX H81 PubMed: Brusius-Facchin 2014 - M - Brazil America-S - - - - 1 Johan den Dunnen
+/. - c.1122C>T r.spl p.? Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Brusius-Facchin 2014 - - Germline - - - - - DNA SEQ, SSCA - - SDSX H82 PubMed: Brusius-Facchin 2014 - M - Brazil America-S - - - - 1 Johan den Dunnen
+/. - c.1122C>T r.spl p.? Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Brusius-Facchin 2014 - - Germline - - - - - DNA SEQ, SSCA - - SDSX H83 PubMed: Brusius-Facchin 2014 - M - Brazil America-S - - - - 1 Johan den Dunnen
+/. - c.1122C>T r.spl p.? Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Brusius-Facchin 2014 - - Germline - - - - - DNA SEQ, SSCA - - SDSX H84 PubMed: Brusius-Facchin 2014 - M - Bolivia America-S - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.spl p..? Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Uttarilli 2016 - - Germline - - - - - DNA SEQ - - MPS IDS-16 PubMed: Uttarilli 2016 - M - India - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.spl p..? Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Uttarilli 2016 - - Germline - - - - - DNA SEQ - - MPS IDS-17 PubMed: Uttarilli 2016 - M no India - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.spl p..? Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Uttarilli 2016 - - Germline - - - - - DNA SEQ - - MPS IDS-18 PubMed: Uttarilli 2016 - M - India - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.spl p..? Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Uttarilli 2016 - - Germline - - - - - DNA SEQ - - MPS IDS-19 PubMed: Uttarilli 2016 - M no India - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.spl p..? Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Uttarilli 2016 - - Germline - - - - - DNA SEQ - - MPS IDS-20 PubMed: Uttarilli 2016 - M - India - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.spl p..? Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Uttarilli 2016 - - De novo - - - - - DNA SEQ - - MPS IDS-21 PubMed: Uttarilli 2016 2-generation family, 1 affected, unaffected non-carrier mother M no India - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Maternal (confirmed) - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Lin 2019 - - Germline - - - - - DNA SEQ - - MPS - PubMed: Lin 2019 - M - Taiwan - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T p.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Agrawal 2022 SCV001480480 - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Pat82 PubMed: Agrawal 2022 patient, no family history M - India - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T p.(1121_1180del) p.(Glu375_Gly394del) Maternal (confirmed) - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Agrawal 2022 SCV001480480 - Germline - - - - - DNA SEQ - - MPS Pat83.1/2 PubMed: Agrawal 2022 family, 2 affected, family history, unaffected heterozygous carrier mother M - India - - - - - 2 Johan den Dunnen
+/. 8 c.1122C>T p.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Agrawal 2022 SCV001480480 - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Pat84 PubMed: Agrawal 2022 patient, no family history M - India - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Josahkian 2021 - - Germline - - - - - DNA SEQ - - MPS - PubMed: Josahkian 2021 patient - - Brazil - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Josahkian 2021 - - Germline - - - - - DNA SEQ - - MPS - PubMed: Josahkian 2021 patient - - Brazil - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Josahkian 2021 - - Germline - - - - - DNA SEQ - - MPS - PubMed: Josahkian 2021 patient - - Brazil - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Josahkian 2021 - - Germline - - - - - DNA SEQ - - MPS - PubMed: Josahkian 2021 patient - - Brazil - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Josahkian 2021 - - Germline - - - - - DNA SEQ - - MPS - PubMed: Josahkian 2021 patient - - Brazil - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Kosuga 2016 - - Germline - - - - - DNA SEQ - - MPS Pat15 PubMed: Kosuga 2016 - M - Japan - - - - - 1 Johan den Dunnen
+/. - c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Vollebregt 2017 - - Germline - - - - - DNA SEQ - - MPS Pat17 PubMed: Vollebregt 2017 - M - Netherlands - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Zhang 2019 - - Germline - - - - - DNA SEQ - - MPS Pat48 PubMed: Zhang 2019 - M - China - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Zhang 2019 - - Germline - - - - - DNA SEQ - - MPS Pat49 PubMed: Zhang 2019 - M - China - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Gly375_Gly394) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Zhong 2023 - - Germline - - - - - DNA SEQ - - MPS CH140 PubMed: Zhong 2023 - M - China - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Gly375_Gly394) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Zhong 2023 - - Germline - - - - - DNA SEQ - - MPS CH141 PubMed: Zhong 2023 - M - China - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Gly375_Gly394) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Zhong 2023 - - Germline - - - - - DNA SEQ - - MPS CH142 PubMed: Zhong 2023 - M - China - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Gly375_Gly394) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Zhong 2023 - - Germline - - - - - DNA SEQ - - MPS CH143 PubMed: Zhong 2023 - M - China - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Gly375_Gly394) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Zhong 2023 - - Germline - - - - - DNA SEQ - - MPS CH144 PubMed: Zhong 2023 - M - China - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Gly375_Gly394) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Zhong 2023 - - Germline - - - - - DNA SEQ - - MPS CH145 PubMed: Zhong 2023 - M - China - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.1121_1180del p.Glu375_Gly394del Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A - - IDS_000024 - PubMed: Dvorakova 2017 - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ - - MPS Pat11 PubMed: Dvorakova 2017 - M - Czech Republic - >22y - - - 1 Johan den Dunnen
+/. 9 c.1122C>T r.1121_1180del p.Glu375_Gly394del Unknown ACMG pathogenic (recessive) g.148568514G>A g.149486983G>A (Gly374Gly); c.1123_1182del (Gly394_Met398delinsVal) - IDS_000024 - PubMed: Zanetti 2024 SCV005089439 rs113993948 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A IVS8dsC-T-59 - IDS_000024 IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Fam36Pat46 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A IVS8dsC-T-59 - IDS_000024 IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Fam37Pat47 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A IVS8dsC-T-59 - IDS_000024 IDS activity plasma 0.02 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Fam38Pat48 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A IVS8dsC-T-59 - IDS_000024 IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Fam39Pat49 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A IVS8dsC-T-59 - IDS_000024 IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Fam40Pat50 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A IVS8dsC-T-59 - IDS_000024 IDS activity plasma 2.2 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Fam41Pat51 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A IVS8dsC-T-59 - IDS_000024 IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Fam42Pat52 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A IVS8dsC-T-59 - IDS_000024 IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Fam43Pat53 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A IVS8dsC-T-59 - IDS_000024 IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Fam44Pat54 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A IVS8dsC-T-59 - IDS_000024 IDS activity plasma 4.9 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Fam45Pat55 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A IVS8dsC-T-59 - IDS_000024 IDS activity plasma 2.3 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Fam46Pat56 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A IVS8dsC-T-59 - IDS_000024 IDS activity plasma 7.2 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Fam47Pat57 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 8 c.1122C>T r.(1121_1180del) p.(Glu375_Gly394del) Unknown - pathogenic (recessive) g.148568514G>A g.149486983G>A IVS8dsC-T-59 - IDS_000024 - PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - MPS Fam48Pat58 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
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