Full data view for gene NEU1

Information The variants shown are described using the NM_000434.3 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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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.-3212C>G r.(?) p.(=) Unknown - VUS g.31833765G>C g.31865988G>C SLC44A4(NM_001178045.1):c.1144C>G (p.L382V) - NEU1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3195C>T r.(?) p.(=) Unknown - likely benign g.31833748G>A - SLC44A4(NM_001178045.1):c.1161C>T (p.C387=) - NEU1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2982G>A r.(?) p.(=) Unknown - VUS g.31833535C>T g.31865758C>T SLC44A4(NM_001178044.1):c.1388G>A (p.(Gly463Glu)) - NEU1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2950C>T r.(?) p.(=) Unknown - VUS g.31833503G>A g.31865726G>A SLC44A4(NM_001178045.1):c.1318C>T (p.R440W) - NEU1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2735A>G r.(?) p.(=) Unknown - VUS g.31833288T>C - SLC44A4(NM_001178045.1):c.1445A>G (p.N482S) - NEU1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2104G>A r.(?) p.(=) Unknown - VUS g.31832657C>T - - - NEU1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2035G>T r.(?) p.(=) Unknown - likely benign g.31832588C>A - SLC44A4(NM_001178044.1):c.1800+5G>T (p.?) - NEU1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-954_-934dup r.(?) p.(=) Unknown - VUS g.31831487_31831507dup - SLC44A4(NM_001178044.1):c.1904_1924dup (p.(Arg641_Pro642insHisAsnGlySerLeuAspArg)) - NEU1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_6_ c.-156_*667{0} r.0 p.0 Paternal (confirmed) ACMG pathogenic g.(?_31826829)_(31830709_?)del g.(?_31859052)_(31862932_?)del - - NEU1_000016 deletion NEU1; the patient's electrolinical phenotype is consistent with previous reports of PME due to pathogenic variant in NEU1. Cherry red spot was seen in early 3rd decade. The parents are not related, consistent with the bi-allelic autosomal recessive inheritance of two rare damaging variants in this established PME gene. His younger brother subsequently presented with similar clinical features and found to have the same mutations. Thus, the phenotype is compatible with the genetic finding. PubMed: Courage 2021, Journal: Courage 2021 - - Germline - - - - - DNA SEQ, SEQ-NG WES trio - neuramidase deficiency (sialidosis, type II) PME10 PubMed: Courage 2021, Journal: Courage 2021 - M no Malaysia - - - - - 1 Carolina Courage
?/. - c.173T>C r.(?) p.(Val58Ala) Unknown - VUS g.31829955A>G - NEU1(NM_000434.3):c.173T>C (p.V58A) - NEU1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.263G>C r.(?) p.(Gly88Ala) Unknown - likely benign g.31829865C>G g.31862088C>G NEU1(NM_000434.3):c.263G>C (p.(Gly88Ala)) - NEU1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.344del r.(?) p.(Met115Argfs*23) Maternal (confirmed) ACMG likely pathogenic g.31829784del g.31862007del - - NEU1_000001 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - neuramidase deficiency (sialidosis, type II) - PubMed: Trujillano 2017 unaffected heterozygous carrier parents - - - - - - - - 1 Daniel Trujillano
?/. - c.360A>G r.(?) p.(=) Unknown - VUS g.31829220T>C - NEU1(NM_000434.4):c.360A>G (p.(Thr120=)) - NEU1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.402C>T r.(?) p.(Pro134=) Unknown - likely benign g.31829178G>A - NEU1(NM_000434.3):c.402C>T (p.P134=) - NEU1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408G>A r.(?) p.(Gly136=) Unknown - likely benign g.31829172C>T - NEU1(NM_000434.3):c.408G>A (p.G136=) - NEU1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.432C>T r.(?) p.(=) Unknown - VUS g.31829148G>A - NEU1(NM_000434.4):c.432C>T (p.(Ser144=)) - NEU1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.544A>G r.(?) p.(Ser182Gly) Maternal (confirmed) ACMG likely pathogenic g.31829036T>C - - - NEU1_000015 ACMG PM1, PM2, PM3, PP1, PP4, PP5; The patient's electrolinical phenotype is consistent with previous reports of PME due to pathogenic variant in NEU1. Cherry red spot was seen in early 3rd decade. The parents are not related, consistent with the bi-allelic autosomal recessive inheritance of two rare damaging variants in this established PME gene. His younger brother subsequently presented with similar clinical features and found to have the same mutations. Thus, the phenotype is compatible with the genetic finding. PubMed: Courage 2021, Journal: Courage 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG WES trio - neuramidase deficiency (sialidosis, type II) PME10 PubMed: Courage 2021, Journal: Courage 2021 - M no Malaysia - - - - - 1 Carolina Courage
+/. - c.625del r.(?) p.(Glu209SerfsTer94) Unknown - pathogenic g.31828391del g.31860614del NEU1(NM_000434.3):c.625del (p.(Glu209Serfs*94)) - NEU1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.625del r.(?) p.(Glu209Serfs*94) Both (homozygous) ACMG pathogenic (recessive) g.31828391del g.31860614del - - NEU1_000007 ACMG PVS1, PM2_SUP, PM3; variant reported in 29455223, 32752208, 14517945 - - - Germline ? - - - - DNA SEQ-NG-I - - neuramidase deficiency (sialidosis, type II) 176990 - - M yes Turkey - - - - - 1 Andreas Laner
?/. - c.649G>A r.(?) p.(Val217Met) Unknown - VUS g.31828365C>T g.31860588C>T NEU1(NM_000434.3):c.649G>A (p.V217M) - NEU1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.679G>A r.(?) p.(Gly227Arg) Unknown - likely pathogenic g.31828335C>T g.31860558C>T NEU1(NM_000434.3):c.679G>A (p.(Gly227Arg)), NEU1(NM_000434.4):c.679G>A (p.G227R) - NEU1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.679G>A r.(?) p.(Gly227Arg) Unknown - pathogenic g.31828335C>T - NEU1(NM_000434.3):c.679G>A (p.(Gly227Arg)), NEU1(NM_000434.4):c.679G>A (p.G227R) - NEU1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.698G>A r.(?) p.(Ser233Asn) Unknown - likely pathogenic g.31828316C>T g.31860539C>T NEU1(NM_000434.3):c.698G>A (p.(Ser233Asn)) - NEU1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.700G>A r.(?) p.(Asp234Asn) Paternal (confirmed) ACMG pathogenic g.31828314C>T g.31860537C>T - - NEU1_000002 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - neuramidase deficiency (sialidosis, type II) - PubMed: Trujillano 2017 unaffected heterozygous carrier parents - - - - - - - - 1 Daniel Trujillano
?/. - c.928G>A r.(?) p.(Asp310Asn) Unknown - VUS g.31827912C>T - NEU1(NM_000434.4):c.928G>A (p.(Asp310Asn)) - NEU1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.982G>A r.(?) p.(Gly328Ser) Unknown - VUS g.31827858C>T - NEU1(NM_000434.3):c.982G>A (p.(Gly328Ser)) - NEU1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1021C>T r.(?) p.(Arg341Ter) Unknown - pathogenic g.31827819G>A g.31860042G>A NEU1(NM_000434.3):c.1021C>T (p.R341*) - NEU1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1060A>G r.(?) p.(Thr354Ala) Unknown - likely benign g.31827684T>C g.31859907T>C NEU1(NM_000434.3):c.1060A>G (p.(Thr354Ala)) - NEU1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1069C>T r.(?) p.(Arg357Trp) Unknown - VUS g.31827675G>A - NEU1(NM_000434.3):c.1069C>T (p.(Arg357Trp)) - NEU1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1070G>A r.(?) p.(Arg357Gln) Unknown - likely benign g.31827674C>T - NEU1(NM_000434.3):c.1070G>A (p.R357Q) - NEU1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1070G>A r.(?) p.(Arg357Gln) Parent #1 - VUS g.31827674C>T g.31859897C>T - - NEU1_000017 - PubMed: Fernandez-Marmiesse 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ? Pat30 PubMed: Fernandez-Marmiesse 2014 - M - Spain - - - - - 1 Johan den Dunnen
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