Full data view for gene PGAP3

Information The variants shown are described using the NM_033419.3 transcript reference sequence.

86 entries on 1 page. Showing entries 1 - 86.
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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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Age at death     

VIP     

Data_av     

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?/. - c.-39951del r.(?) p.(=) Unknown - VUS g.37884223del g.39727970del ERBB2(NM_001289936.1):c.3649delG (p.A1217Lfs*70) - ERBB2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-39770G>C r.(?) p.(=) Unknown - benign g.37884037C>G g.39727784C>G ERBB2(NM_001005862.2):c.3418C>G (p.P1140A) - ERBB2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-39429G>A r.(?) p.(=) Unknown - likely benign g.37883696C>T - ERBB2(NM_001289936.1):c.3263C>T (p.T1088I) - ERBB2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-38874C>T r.(?) p.(=) Unknown - likely benign g.37883141G>A g.39726888G>A ERBB2(NM_001289936.1):c.2999G>A (p.G1000E) - ERBB2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-37694A>C r.(?) p.(=) Unknown - likely benign g.37881961T>G g.39725708T>G ERBB2(NM_001289936.1):c.2682T>G (p.G894=) - ERBB2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-27878G>A r.(?) p.(=) Unknown - VUS g.37872145C>T g.39715892C>T ERBB2(NM_001289936.1):c.1421C>T (p.P474L) - ERBB2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-27447G>A r.(?) p.(=) Unknown - VUS g.37871714C>T g.39715461C>T ERBB2(NM_001289936.1):c.1193C>T (p.S398L) - ERBB2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-27280G>T r.(?) p.(=) Unknown - likely benign g.37871547C>A g.39715294C>A ERBB2(NM_001289936.1):c.1112C>A (p.A371D) - ERBB2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-24448G>A r.(?) p.(=) Unknown - benign g.37868715C>T g.39712462C>T ERBB2(NM_001005862.2):c.1058+14C>T - ERBB2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-21866G>C r.(?) p.(=) Unknown - likely benign g.37866133C>G g.39709880C>G ERBB2(NM_001289936.1):c.597C>G (p.S199R) - ERBB2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.100C>T r.(?) p.(Leu34=) Unknown - likely benign g.37844168G>A g.39687915G>A PGAP3(NM_033419.4):c.100C>T (p.L34=) - ERBB2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.124T>G r.(?) p.(Ser42Ala) Unknown - likely benign g.37844144A>C - PGAP3(NM_033419.3):c.124T>G (p.(Ser42Ala)) - ERBB2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.200A>G r.(?) p.(Asp67Gly) Unknown - VUS g.37842254T>C g.39686001T>C PGAP3(NM_033419.4):c.200A>G (p.D67G) - ERBB2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.275G>A r.(?) p.(Gly92Asp) Both (homozygous) - pathogenic g.37842179C>T g.39685926C>T - - PGAP3_000001 This mutation causes a substitution at a highly conserved residue in a juxtamembrane position on the luminal side. This mutation was absent in the Exome Variant Server, dbSNP (build 137), or 1000 Genomes Project databases, or in 108 ethnically matched controls. CHO cells showed that the mutant G92D protein had almost no or absent enzyme activity. Mutant PGAP3 cDNA bearing G92D did not reduce or reduced only slightly the surface levels of CD59, CD55 and uPAR indicating that the substitution caused a null or nearly null phenotype. PubMed: Howard et al. 2014 - rs587777251 Germline yes - - 0 - DNA SEQ-NG - - HPMRS-4;GPIBD-10 - PubMed: Howard 2014 Three siblings, 17,8 and 4y, with hyperphosphatasia with mental retardation 4. - yes Pakistan Pakistani - 0 - - 1 Philippe Campeau
+/. 3 c.314C>A r.(?) p.(Pro105Gln) Both (homozygous) - pathogenic g.37840968G>T g.39684715G>T - - PGAP3_000022 Missense variant. This mutation was predicted as pathogenic by the in silico software: SIFT=0, PolyPhen2=1, and MutationTaster=disease causing. This new mutation was inherited from both unaffected carrier parents. - - - Germline - - - 0 - DNA SEQ, SEQ-NG Peripheral blood WES HPMRS-4;GPIBD-10 II-1 PubMed: Sakaguchi et al., 2018 Novel homozygous PGAP3 mutation (c.314C>A, p.Pro105Gln) in a Croatian patient. Born to healthy and nonconsanguineous parents (from the same region) after an uneventful pregnancy. M no Croatia (Hrvatska) Croatian >08y 0 - Orthotics at 6 years with no improvements, intensive physical therapy for the marked generalized hypotonia. Phenobarbital and Valproate for seizures. 200 mg of pyridoxine daily for neuronal symptoms. 1 Philippe Campeau
+/. - c.314C>G r.(?) p.(Pro105Arg) Both (homozygous) - pathogenic g.37840968G>C g.39684715G>C - - PGAP3_000004 Substitution at a highly conserved residue in the first transmembrane domain. The mutation was absent in 52 Arabic controls or in the Exome Variant Server database. CHO cells showed that the mutant P105R protein had low residual enzyme activity. Electrophoresis and immunoblotting studies showed that the P105R protein had only immature ER-form N-glycan and did not localize properly to the Golgi, but was retained in the ER. PubMed: Howard et al. 2014 - rs371549948 Germline yes - - 0 - DNA SEQ-NG - - HPMRS-4;GPIBD-10 - PubMed: Howard 2014 Index case. F yes Saudi Arabia - - 0 - - 1 Philippe Campeau
+?/. - c.320C>T r.(?) p.(Ser107Leu) Unknown - likely pathogenic g.37840962G>A g.39684709G>A - - PGAP3_000011 - PubMed: Knaus et al. 2016 - - Unknown - - - 0 - DNA, RNA SEQ-NG fibroblasts or blood exome sequencing HPMRS-1;GPIBD-2 A-II-1 Knaus 2016:27120253 - F no - European American - 0 - - 1 Philippe Campeau
+?/. - c.320C>T r.(?) p.(Ser107Leu) Paternal (confirmed) - likely pathogenic g.37840962G>A g.39684709G>A - - PGAP3_000011 - PubMed: Knaus et al. 2016 - - Germline - - - 0 - DNA, RNA SEQ-NG fibroblasts or blood exome sequencing HPMRS-1;GPIBD-2 D-II-2 PubMed: Knaus 2016 - F no - British - 0 - - 1 Philippe Campeau
+?/. - c.320C>T r.(?) p.(Ser107Leu) Maternal (confirmed) - likely pathogenic g.37840962G>A g.39684709G>A - - PGAP3_000011 - PubMed: Pagnamenta et al. 2017 - - Germline - - - 0 - DNA SEQ-NG Blood WES DD 257982 PubMed: Pagnamenta 2017 - F no - Caucasian - 0 - - 2 Philippe Campeau
+?/. - c.320C>T r.(?) p.(Ser107Leu) Maternal (confirmed) - likely pathogenic g.37840962G>A g.39684709G>A - - PGAP3_000011 - PubMed: Pagnamenta et al. 2017 - - Germline - - - 0 - DNA SEQ - - DD - PubMed: Pagnamenta 2017 brother of individual 257982 M no - Caucasian - 0 - - 1 Philippe Campeau
+/. 2 c.320C>T r.(?) p.(Ser107Leu) Both (homozygous) - pathogenic g.37840962G>A g.39684709G>A - - PGAP3_000011 Missense mutation. The wild type S107 residue is more hydrophobic and smaller than the mutant residue. This mutation will affect the hydrophobic interactions with the lipid membrane and protein function. - - - Germline - - - 0 - DNA SEQ, SEQ-NG Peripheral blood WES HPMRS-4;GPIBD-10 III-2 PubMed: Balobaid et al., 2018 - M yes Saudi Arabia Middle Eastern >03y 0 - - 1 Philippe Campeau
+/. 2 c.320C>T r.(?) p.(Ser107Leu) Both (homozygous) - pathogenic g.37840962G>A g.39684709G>A - - PGAP3_000011 Missense mutation. The wild type S107 residue is more hydrophobic and smaller than the mutant residue. This mutation will affect the hydrophobic interactions with the lipid membrane and protein function. - - - Germline - - - 0 - DNA SEQ, SEQ-NG Peripheral blood WES HPMRS-4;GPIBD-10 III-1 PubMed: Balobaid et al., 2018 - F yes Saudi Arabia Middle Eastern >09y 0 - anti-epileptic medications 1 Philippe Campeau
+?/. - c.402dup r.(?) p.(Met135Hisfs*28) Paternal (confirmed) - likely pathogenic g.37840884dup g.39684631dup - - PGAP3_000013 - PubMed: Knaus et al. 2016 - - Germline - - - 0 - DNA, RNA SEQ-NG fibroblasts or blood exome sequencing HPMRS-1;GPIBD-2 B-II-2 PubMed: Knaus 2016 - F no - German - 0 - - 1 Philippe Campeau
+?/. - c.402dup r.(?) p.(Met135Hisfs*28) Both (homozygous) - likely pathogenic g.37840884dup g.39684631dup - - PGAP3_000013 - PubMed: Abdel-Hamid et al. 2017 - - Germline yes - - 0 - DNA SEQ peripheral blood leukocytes - HPMRS-1;GPIBD-2 Patient_1 PubMed: Abdel-Hamid 2017 - M yes Egypt - - 0 - - 1 Philippe Campeau
+?/. - c.402dup r.(?) p.(Met135Hisfs*28) Both (homozygous) - likely pathogenic g.37840884dup g.39684631dup - - PGAP3_000013 - PubMed: Abdel-Hamid et al. 2017 - - Germline yes - - 0 - DNA SEQ peripheral blood leukocytes - HPMRS-1;GPIBD-2 Patient_2 PubMed: Abdel-Hamid 2017 - F yes Egypt - - 0 - - 1 Philippe Campeau
+?/. - c.402dup r.(?) p.(Met135Hisfs*28) Both (homozygous) - likely pathogenic g.37840884dup g.39684631dup - - PGAP3_000013 - PubMed: Abdel-Hamid et al. 2017 - - Germline yes - - 0 - DNA SEQ peripheral blood leukocytes - HPMRS-1;GPIBD-2 Patient_3 PubMed: Abdel-Hamid 2017 - F yes Egypt - - 0 - - 1 Philippe Campeau
+?/. - c.402dup r.(?) p.(Met135Hisfs*28) Both (homozygous) - likely pathogenic g.37840884dup g.39684631dup - - PGAP3_000013 - PubMed: Abdel-Hamid et al. 2017 - - Germline yes - - 0 - DNA SEQ peripheral blood leukocytes - HPMRS-1;GPIBD-2 Patient_4 PubMed: Abdel-Hamid 2017 - M yes Egypt - - 0 - - 1 Philippe Campeau
+?/. - c.402dup r.(?) p.(Met135Hisfs*28) Both (homozygous) - likely pathogenic g.37840884dup g.39684631dup - - PGAP3_000013 - PubMed: Abdel-Hamid et al. 2017 - - Germline yes - - 0 - DNA SEQ peripheral blood leukocytes - HPMRS-1;GPIBD-2 Patient_6 PubMed: Abdel-Hamid 2017 - F no Egypt - - 0 - - 1 Philippe Campeau
+?/. - c.402dup r.(?) p.(Met135Hisfs*28) Both (homozygous) - likely pathogenic g.37840884dup g.39684631dup - - PGAP3_000013 - PubMed: Abdel-Hamid et al. 2017 - - Germline yes - - 0 - DNA SEQ peripheral blood leukocytes - HPMRS-1;GPIBD-2 Patient_7 PubMed: Abdel-Hamid 2017 cousin with Patient_8 M yes Egypt - - 0 - - 2 Philippe Campeau
+?/. - c.402dup r.(?) p.(Met135Hisfs*28) Both (homozygous) - likely pathogenic g.37840884dup g.39684631dup - - PGAP3_000013 - PubMed: Abdel-Hamid et al. 2017 - - Germline yes - - 0 - DNA SEQ peripheral blood leukocytes - HPMRS-1;GPIBD-2 Patient_8 PubMed: Abdel-Hamid 2017 cousin with Patient_7 F no Egypt - - 0 - - 1 Philippe Campeau
+?/. - c.402dup r.(?) p.(Met135Hisfs*28) Both (homozygous) - likely pathogenic g.37840884dup g.39684631dup - - PGAP3_000013 - PubMed: Abdel-Hamid et al. 2017 - - Germline yes - - 0 - DNA SEQ peripheral blood leukocytes - HPMRS-1;GPIBD-2 Patient_9 PubMed: Abdel-Hamid 2017 - M yes Egypt - - 0 - - 2 Philippe Campeau
+?/. - c.402dup r.(?) p.(Met135Hisfs*28) Both (homozygous) - likely pathogenic g.37840884dup g.39684631dup - - PGAP3_000013 - PubMed: Abdel-Hamid et al. 2017 - - Germline yes - - 0 - DNA SEQ peripheral blood leukocytes - HPMRS-1;GPIBD-2 Patient_10 PubMed: Abdel-Hamid 2017 - M yes Egypt - - 0 - - 1 Philippe Campeau
-?/. - c.404T>C r.(?) p.(Met135Thr) Unknown - likely benign g.37840878A>G g.39684625A>G PGAP3(NM_033419.3):c.404T>C (p.(Met135Thr)) - PGAP3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.439dup r.(?) p.(Leu147Profs*16) Paternal (confirmed) - pathogenic g.37830928dup g.39674675dup - - PGAP3_000003 In vitro functional expression studies in CHO cells showed that the mutant c.439dupC mutant had no residual enzyme activity, and was likely degraded by nonsense-mediated mRNA decay. Flow cytometric analysis of patient cells showed a reduction in the cell surface levels of GPI-anchored proteins. PubMed: Howard et al. 2014 - - Germline yes - - 0 - DNA SEQ-NG - - HPMRS-4;GPIBD-10 - PubMed: Howard 2014 Index case. F no United States Caucasian - 0 - - 1 Philippe Campeau
-?/. - c.495+10C>T r.(=) p.(=) Unknown - likely benign g.37830860G>A - PGAP3(NM_033419.4):c.495+10C>T - PGAP3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.496-9_496-8insCAGAGTA r.(=) p.(=) Unknown - VUS g.37830315_37830316insTACTCTG g.39674062_39674063insTACTCTG - - PGAP3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.507C>A r.(?) p.(Tyr169*) Both (homozygous) - pathogenic g.37830296G>T g.39674043G>T - - PGAP3_000021 Parents were heterozygous carriers for p.Tyr169Ter. This nonsense alteration was predicted to cause a truncated protein with lacking functionally structural 5 transmembrane domains (TMD) - - - Germline - - - 0 - DNA SEQ, SEQ-NG Peripheral blood WES, emulsion PCR HPMRS-4;GPIBD-10 Patient 1 PubMed: Akgün Doğan et al., 2018 Second child of the parents (first cousin marriage), born via cesarean delivery at term. Died due to aspiration pneumonia-related respiratory distress. M yes ? (unknown) - 00y18m 0 - - 1 Philippe Campeau
+/. 5 c.507C>A r.(?) p.(Tyr169*) Both (homozygous) - pathogenic g.37830296G>T g.39674043G>T - - PGAP3_000021 Parents were heterozygous carriers for p.Tyr169Ter. This nonsense alteration was predicted to cause a truncated protein with lacking functionally structural 5 transmembrane domains (TMD) - - - Germline - - - 0 - DNA SEQ, SEQ-NG Peripheral blood WES, emulsion PCR HPMRS-4;GPIBD-10 Patient 2 PubMed: Akgün Doğan et al., 2018 3rd child of parents (first cousin marriage), younger sister of patient 1, born via cesarean delivery at 36 weeks F yes - - >00y01m 0 - - 1 Philippe Campeau
+?/. - c.511T>C r.(?) p.(Cys171Arg) Maternal (confirmed) - likely pathogenic g.37830292A>G g.39674039A>G - - PGAP3_000017 - PubMed: Knaus et al. 2016 - - Germline - - - 0 - DNA, RNA SEQ-NG fibroblasts or blood exome sequencing HPMRS-1;GPIBD-2 F-II-3 PubMed: Knaus 2016 - M no - Japanese - 0 - - 1 Philippe Campeau
+?/. - c.558-10G>A r.(=) p.(=) Unknown - likely pathogenic g.37829913C>T g.39673660C>T - - PGAP3_000012 - PubMed: Knaus et al. 2016 - - Unknown - - - 0 - DNA, RNA SEQ-NG fibroblasts or blood exome sequencing HPMRS-1;GPIBD-2 A-II-1 Knaus 2016:27120253 - F no - European American - 0 - - 1 Philippe Campeau
+?/. - c.558-10G>A r.(=) p.(=) Maternal (confirmed) - likely pathogenic g.37829913C>T g.39673660C>T - - PGAP3_000012 - PubMed: Knaus et al. 2016 - - Germline - - - 0 - DNA, RNA SEQ-NG fibroblasts or blood exome sequencing HPMRS-1;GPIBD-2 B-II-2 PubMed: Knaus 2016 - F no - German - 0 - - 1 Philippe Campeau
+/. - c.663T>G r.(?) p.(Tyr221Ter) Unknown - pathogenic g.37829798A>C g.39673545A>C PGAP3(NM_033419.5):c.663T>G (p.Y221*) - PGAP3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.715_717del r.(?) p.(Trp239del) Unknown - VUS g.37829490_37829492del g.39673237_39673239del - - PGAP3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.817_820del r.(?) p.(Asp273Serfs*37) Both (homozygous) - likely pathogenic g.37829384_37829387del g.39673131_39673134del - - PGAP3_000019 - PubMed: Abdel-Hamid et al. 2017 - - Germline yes - - 0 - DNA SEQ peripheral blood leukocytes - HPMRS-1;GPIBD-2 Patient_5 PubMed: Abdel-Hamid 2017 - F yes Egypt - - 0 - - 1 Philippe Campeau
?/. - c.827C>T r.(?) p.(Pro276Leu) Unknown - VUS g.37829376G>A g.39673123G>A PGAP3(NM_033419.5):c.827C>T (p.P276L) - PGAP3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? - c.827C>T r.(?) p.(Pro276Leu) Unknown - likely pathogenic g.37829376G>A g.39673123G>A - - PGAP3_000006 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.842T>C r.(?) p.(Leu281Pro) Paternal (confirmed) - likely pathogenic g.37829361A>G g.39673108A>G - - PGAP3_000018 - PubMed: Knaus et al. 2016 - - Germline - - - 0 - DNA, RNA SEQ-NG fibroblasts or blood exome sequencing HPMRS-1;GPIBD-2 F-II-3 PubMed: Knaus 2016 - M no - Japanese - 0 - - 1 Philippe Campeau
+?/. - c.845A>G r.(?) p.(Asp282Gly) Both (homozygous) - likely pathogenic g.37829358T>C g.39673105T>C - - PGAP3_000016 - PubMed: Knaus et al. 2016 - - Germline - - - 0 - DNA, RNA SEQ-NG fibroblasts or blood exome sequencing HPMRS-1;GPIBD-2 E-II-2 PubMed: Knaus 2016 - F yes - Palestinian - 0 - - 2 Philippe Campeau
+?/. - c.845A>G r.(?) p.(Asp282Gly) Both (homozygous) - likely pathogenic g.37829358T>C g.39673105T>C - - PGAP3_000016 - PubMed: Knaus et al. 2016 - - Germline - - - 0 - DNA, RNA SEQ-NG fibroblasts or blood exome sequencing HPMRS-1;GPIBD-2 E-II-4 PubMed: Knaus 2016 - F yes - Palestinian - 0 - - 1 Philippe Campeau
?/. - c.850C>T r.(?) p.(His284Tyr) Unknown - VUS g.37829353G>A g.39673100G>A - - PGAP3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.850C>T r.(?) p.(His284Tyr) Both (homozygous) - pathogenic g.37829353G>A g.39673100G>A - - PGAP3_000008 Mutation is heterozygous in the available parents. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane. - - - Germline - - - 0 - DNA SEQ, SEQ-NG Peripheral blood WES HPMRS-4;GPIBD-10 I-1 PubMed: Balobaid et al., 2018 - F yes Saudi Arabia Middle Eastern >09y 0 - anti-epileptic medications 1 Philippe Campeau
+/. 7 c.850C>T r.(?) p.(His284Tyr) Both (homozygous) - pathogenic g.37829353G>A g.39673100G>A - - PGAP3_000008 Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane. - - - Germline - - - 0 - DNA SEQ, SEQ-NG Peripheral blood WES HPMRS-4;GPIBD-10 II-2 PubMed: Balobaid et al., 2018 - M yes Saudi Arabia Middle Eastern >03y 0 - - 1 Philippe Campeau
+/. 7 c.850C>T r.(?) p.(His284Tyr) Both (homozygous) - pathogenic g.37829353G>A g.39673100G>A - - PGAP3_000008 Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane. - - - Germline - - - 0 - DNA SEQ, SEQ-NG Peripheral blood WES HPMRS-4;GPIBD-10 II-1 PubMed: Balobaid et al., 2018 - M yes Saudi Arabia Middle Eastern >08y 0 - anti-epileptic medications 1 Philippe Campeau
+/. 7 c.850C>T r.(?) p.(His284Tyr) Both (homozygous) - pathogenic g.37829353G>A g.39673100G>A - - PGAP3_000008 Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane. - - - Germline - - - 0 - DNA SEQ, SEQ-NG Peripheral blood WES HPMRS-4;GPIBD-10 I-2 PubMed: Balobaid et al., 2018 - F yes Saudi Arabia Middle Eastern >06y 0 - - 1 Philippe Campeau
+/. - c.850C>T r.(?) p.(His284Tyr) Both (homozygous) - pathogenic (recessive) g.37829353G>A g.39673100G>A NM_033419.3:c.850C>T:p.(His284Tyr) - PGAP3_000008 - PubMed: Maddirevula 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia 17DG0809 PubMed: Maddirevula 2018 family M yes - Arab - 0 - - 1 LOVD
+/. - c.850C>T r.(?) p.(His284Tyr) Both (homozygous) - pathogenic (recessive) g.37829353G>A g.39673100G>A NM_033419.3:c.850C>T:p.(His284Tyr) - PGAP3_000008 - PubMed: Maddirevula 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia 14DG0578 PubMed: Maddirevula 2018 family F yes - Arab - 0 - - 1 LOVD
+/. - c.850C>T r.(?) p.(His284Tyr) Both (homozygous) - pathogenic (recessive) g.37829353G>A g.39673100G>A NM_033419.3:c.850C>T:p.(His284Tyr) - PGAP3_000008 - PubMed: Maddirevula 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia 12DG2300 , 12DG2301 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - 0 - - 2 LOVD
+/. - c.850C>T r.(?) p.(His284Tyr) Both (homozygous) - pathogenic (recessive) g.37829353G>A g.39673100G>A NM_033419.3:c.850C>T:p.(His284Tyr) - PGAP3_000008 - PubMed: Maddirevula 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia 14DG0816 , 16DG0111 PubMed: Maddirevula 2018 family, 2 affected (2F) F yes - Arab - 0 - - 2 LOVD
+/. - c.850C>T r.(?) p.(His284Tyr) Both (homozygous) - pathogenic (recessive) g.37829353G>A g.39673100G>A NM_033419.3:c.850C>T:p.(His284Tyr) - PGAP3_000008 - PubMed: Maddirevula 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia 14DG2083 , 14DG2084, 14DG2085 PubMed: Maddirevula 2018 family, 3 affected (F, 2M) F;M yes - Arab - 0 - - 3 LOVD
+?/. 7 c.851A>G r.(?) p.(His284Arg) Both (homozygous) - likely pathogenic g.37829352T>C g.39673099T>C - - PGAP3_000020 - PubMed: Nampoothiri et al. 2017 - - Germline - - - 0 - DNA SEQ-NG - WES DD IV-1 PubMed: Nampoothiri 2017 - M yes Oman - - 0 - - 2 Philippe Campeau
+?/. 7 c.851A>G r.(?) p.(His284Arg) Both (homozygous) - likely pathogenic g.37829352T>C g.39673099T>C - - PGAP3_000020 - PubMed: Nampoothiri et al. 2017 - - Germline - - - 0 - DNA SEQ-NG - WES DD, HPMRS-6;GPIBD-12 IV-2 PubMed: Nampoothiri 2017 - F yes Oman - - 0 - - 1 Philippe Campeau
+/. - c.851A>G r.(?) p.(His284Arg) Both (homozygous) - pathogenic g.37829352T>C g.39673099T>C - - PGAP3_000020 The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane. - - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES, Homozygosity mapping HPMRS-4;GPIBD-10 VIII-2 PubMed: Balobaid et al., 2018 - F yes Oman Middle Eastern >04y 0 - anti-epileptic medications 1 Philippe Campeau
+/. - c.851A>G r.(?) p.(His284Arg) Both (homozygous) - pathogenic g.37829352T>C g.39673099T>C - - PGAP3_000020 Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane. - - - Germline - - - 0 - DNA SEQ, SEQ-NG Peripheral blood WES, homozygosity by descent HPMRS-4;GPIBD-10 VIII-1 PubMed: Balobaid et al., 2018 - M yes Oman Middle Eastern >07y 0 - anti-epileptic medications 1 Philippe Campeau
+/. - c.851A>G r.(?) p.(His284Arg) Both (homozygous) - pathogenic g.37829352T>C g.39673099T>C - - PGAP3_000020 Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane. - - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES, homozygosity by descent HPMRS-4;GPIBD-10 VII-2 PubMed: Balobaid et al., 2018 - F yes Oman Middle Eastern >05y 0 - - 1 Philippe Campeau
+/. - c.851A>G r.(?) p.(His284Arg) Both (homozygous) - pathogenic g.37829352T>C g.39673099T>C - - PGAP3_000020 Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane. - - - Germline - - - 0 - DNA SEQ, SEQ-NG Peripheral blood WES, homozygosity by descent HPMRS-4;GPIBD-10 VII-1 PubMed: Balobaid et al., 2018 - F yes Oman Middle Eastern >09y 0 - - 1 Philippe Campeau
+/. - c.851A>G r.(?) p.(His284Arg) Both (homozygous) - pathogenic g.37829352T>C g.39673099T>C - - PGAP3_000020 Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane. - - - Germline - - - 0 - DNA SEQ, SEQ-NG Peripheral Blood WES HPMRS-4;GPIBD-10 VI-1 PubMed: Balobaid 2018 - F no Qatar Middle Eastern >06y 0 - - 1 Philippe Campeau
+/. 7 c.851A>G r.(?) p.(His284Arg) Both (homozygous) - pathogenic g.37829352T>C g.39673099T>C - - PGAP3_000020 Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane. - - - Germline - - - 0 - DNA SEQ, SEQ-NG Peripheral Blood WES, Targeted mutation analysis HPMRS-4;GPIBD-10 V-1 PubMed: Balobaid 2018 - F yes Qatar Middle Eastern >02y03m 0 - - 1 Philippe Campeau
+/. 7 c.851A>G r.(?) p.(His284Arg) Both (homozygous) - pathogenic g.37829352T>C g.39673099T>C - - PGAP3_000020 Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane. - - - Germline - - - 0 - DNA SEQ, SEQ-NG Peripheral blood WES HPMRS-4;GPIBD-10 IV-2 PubMed: Balobaid 2018 - F yes Qatar Middle Eastern >10y 0 - - 1 Philippe Campeau
+/. 7 c.851A>G r.(?) p.(His284Arg) Both (homozygous) - pathogenic g.37829352T>C g.39673099T>C - - PGAP3_000020 Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane. - - - Germline - - - 0 - DNA SEQ, SEQ-NG Peripheral blood WES HPMRS-4;GPIBD-10 IV-1 PubMed: Balobaid 2018 - F yes Qatar Middle Eastern >13y 0 - - 1 Philippe Campeau
+/. - c.851A>G r.(?) p.(His284Arg) Unknown - pathogenic g.37829352T>C g.39673099T>C - - PGAP3_000020 - - - - De novo - - - 0 - DNA SEQ, SEQ-NG Peripheral blood Clinical Exome sequencing HPMRS-4;GPIBD-10 PGAP3 (2x)_individual 1 PubMed: Yavarna et al., 2015 Paper presents a compilation of many genes. No detailed information on specific PGAP3 patients. - - - Middle Eastern - 0 - - 1 Philippe Campeau
+/. - c.851A>G r.(?) p.(His284Arg) Unknown - pathogenic g.37829352T>C g.39673099T>C - - PGAP3_000020 - - - - De novo - - - 0 - DNA SEQ, SEQ-NG Peripheral blood Clinical Exome Sequencing HPMRS-4;GPIBD-10 PGAP3 (2x)_individual 2 PubMed: Yavarna et al., 2015 Paper presents a compilation of many genes. No detailed information on patient. - - - Middle Eastern - 0 - - 1 Philippe Campeau
+?/. - c.861G>T r.(?) p.(Trp287Cys) Paternal (confirmed) - likely pathogenic g.37829342C>A g.39673089C>A - - PGAP3_000014 - PubMed: Knaus et al. 2016 - - Germline - - - 0 - DNA, RNA SEQ-NG fibroblasts or blood exome sequencing HPMRS-1;GPIBD-2 C-II-1 PubMed: Knaus 2016 - M no - French - 0 - - 2 Philippe Campeau
+?/. - c.861G>T r.(?) p.(Trp287Cys) Paternal (confirmed) - likely pathogenic g.37829342C>A g.39673089C>A - - PGAP3_000014 - PubMed: Knaus et al. 2016 - - Germline - - - 0 - DNA, RNA SEQ-NG fibroblasts or blood exome sequencing HPMRS-1;GPIBD-2 C-II-2 PubMed: Knaus 2016 - F no - French - 0 - - 1 Philippe Campeau
+/. 8 c.914A>G r.(?) p.(Asp305Gly) Maternal (confirmed) - pathogenic g.37829105T>C g.39672852T>C - - PGAP3_000002 CHO cell line defective in both PGAP3 have GPI-APs at mildly reduced levels because of a lack of GPI fatty acid remodelling. When wild-type PGAP3 cDNA was transfected, the first step in the fatty acid remodelling was restored, whereas the second step remained defective, leading to the release of lyso-GPI intermediates and resulting in a severe reduction in the surface levels of GPI-APs. Mutant PGAP3 cDNA bearing the mutation p.Asp305Gly significantly reduced levels of all three GPI-APs, indicating some residual activity. The p.Asp305Gly protein was readily detectable but had immature N-glycan and was mislocalized in the ER by immunoblot. PubMed: Howard et al. 2014 - rs587777252 Germline yes - - 0 - DNA SEQ-NG - - HPMRS-4;GPIBD-10 - PubMed: Howard 2014 Index case. F no United States Caucasian - 0 - - 1 Philippe Campeau
+?/. - c.914A>G r.(?) p.(Asp305Gly) Maternal (confirmed) - likely pathogenic g.37829105T>C g.39672852T>C - - PGAP3_000002 - PubMed: Knaus et al. 2016 - - Germline - - - 0 - DNA, RNA SEQ-NG fibroblasts or blood exome sequencing HPMRS-1;GPIBD-2 D-II-2 PubMed: Knaus 2016 - F no - British - 0 - - 1 Philippe Campeau
+?/. - c.914A>G r.(?) p.(Asp305Gly) Paternal (confirmed) - likely pathogenic g.37829105T>C g.39672852T>C - - PGAP3_000002 - PubMed: Pagnamenta et al. 2017 - - Germline - - - 0 - DNA SEQ-NG Blood WES DD 257982 PubMed: Pagnamenta 2017 - F no - Caucasian - 0 - - 2 Philippe Campeau
+?/. - c.914A>G r.(?) p.(Asp305Gly) Paternal (confirmed) - likely pathogenic g.37829105T>C g.39672852T>C - - PGAP3_000002 - PubMed: Pagnamenta et al. 2017 - - Germline - - - 0 - DNA SEQ - - DD - PubMed: Pagnamenta 2017 brother of individual 257982 M no - Caucasian - 0 - - 1 Philippe Campeau
+?/. - c.924C>A r.(?) p.(Tyr308*) Both (homozygous) ACMG likely pathogenic g.37829095G>T g.39672842G>T - - PGAP3_000005 - PubMed: Trujillano 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - HPMRS-4;GPIBD-10 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - 1 Daniel Trujillano
+?/. - c.*559C>T r.(=) p.(=) Maternal (confirmed) - likely pathogenic g.37828497G>A g.39672244G>A - - PGAP3_000015 - PubMed: Knaus et al. 2016 - - Germline - - - 0 - DNA, RNA SEQ-NG fibroblasts or blood exome sequencing HPMRS-1;GPIBD-2 C-II-1 PubMed: Knaus 2016 - M no - French - 0 - - 2 Philippe Campeau
+?/. - c.*559C>T r.(=) p.(=) Maternal (confirmed) - likely pathogenic g.37828497G>A g.39672244G>A - - PGAP3_000015 - PubMed: Knaus et al. 2016 - - Germline - - - 0 - DNA, RNA SEQ-NG fibroblasts or blood exome sequencing HPMRS-1;GPIBD-2 C-II-2 PubMed: Knaus 2016 - F no - French - 0 - - 1 Philippe Campeau
-/. - c.*6299G>T r.(=) p.(=) Unknown - benign g.37822757C>A g.39666504C>A - - PGAP3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6317C>G r.(=) p.(=) Unknown - likely benign g.37822739G>C g.39666486G>C - - TCAP_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6495C>A r.(=) p.(=) Unknown - likely benign g.37822561G>T g.39666308G>T - - TCAP_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*6616A>C r.(=) p.(=) Unknown - benign g.37822440T>G g.39666187T>G - - PGAP3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6618C>A r.(=) p.(=) Unknown - likely benign g.37822438G>T g.39666185G>T TCAP(NM_003673.3):c.*76G>T - TCAP_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*6618C>A r.(=) p.(=) Unknown - likely benign g.37822438G>T g.39666185G>T TCAP(NM_003673.3):c.*76G>T - TCAP_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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