Full data view for gene WNT1


Osteogenesis Imperfecta Variant Database
Information The variants shown are described using the NM_005430.3 transcript reference sequence.

166 entries on 2 pages. Showing entries 1 - 100.
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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     
+/+ 1 c.2T>C r.(?) p.(Met1?) Paternal (confirmed) - pathogenic g.49372435T>C - - - WNT1_000045 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/? 1 c.6del r.(?) p.(Leu3Serfs*36) Unknown - pathogenic g.49372439del g.48978656del 6delG - WNT1_000053 - PubMed: Kuptanon 2019 - - Germline - - - - - DNA SEQ - - OI - PubMed: Kuptanon 2019 - - - - - - - - - 1 Raymond Dalgleish
+/+ 1 c.10del r.(?) p.(Trp4Glyfs*35) Paternal (confirmed) - pathogenic g.49372443del - 10delT - WNT1_000044 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/+ 1i c.104+1G>A r.spl p.? Paternal (confirmed) - pathogenic g.49372538G>A - - - WNT1_000047 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/? 1 c.104+4_104+44del r.spl p.? Both (homozygous) - pathogenic g.49372541_49372581del - - - WNT1_000062 - PubMed: Panigrahi 2018 - - Germline - - - - - DNA SEQ - - OI - PubMed: Panigrahi 2018 - - - - - - - - - 1 Raymond Dalgleish
+/? 1i c.105-2A>G r.spl p.? Maternal (confirmed) - pathogenic g.49373249A>G - - - WNT1_000042 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/. 2 c.110T>C r.(?) p.(Ile37Thr) Parent #1 - pathogenic (recessive) g.49373256T>C g.48979473T>C - - WNT1_000019 - PubMed: Liu 2017 - - Germline - 1/101 cases OI - - - DNA SEQ-NG - targeted 14-gene panel OI OI Fam36 PubMed: Liu 2017 analysis 101 unrelated OI families - - China - - - - - 1 Johan den Dunnen
+/+ 2 c.110T>C r.(?) p.(Ile37Thr) Paternal (confirmed) - pathogenic g.49373256T>C - - - WNT1_000019 The c.110T>C variant is misreported twice as c.110G>T. PubMed: Liu 2016 - - Germline - - - - - DNA SEQ-NG, PCR, SEQ - custom gene panel OI - PubMed: Liu 2016 - - - China - - - - - 1 Raymond Dalgleish
?/. - c.146A>C r.(?) p.(Asp49Ala) Unknown - VUS g.49373292A>C - WNT1(NM_005430.4):c.146A>C (p.(Asp49Ala)) - WNT1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.184C>T r.(?) p.(Gln62*) Unknown - pathogenic g.49373330C>T - - - WNT1_000017 - PubMed: Aldinger 2015 - - Germline - - - - - DNA SEQ - - OI - PubMed: Aldinger 2015 - - - China - - - - - 1 Raymond Dalgleish
+/? 2 c.189del r.(?) p.(Leu64*) Unknown - pathogenic g.49373335del - 189delG - WNT1_000039 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/. - c.216dup r.(?) p.(Arg73ThrfsTer82) Unknown - pathogenic g.49373362dup g.48979579dup - - WNT1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.216dup r.(?) p.(Arg73Thrfs*82) Paternal (confirmed) - pathogenic g.49373362dup - 216dupA - WNT1_000041 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/+ 2 c.216dup r.(?) p.(Arg73Thrfs*82) Maternal (confirmed) - pathogenic g.49373362dup - 216dupA - WNT1_000041 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
?/. - c.218G>A r.(?) p.(Arg73His) Unknown - VUS g.49373364G>A - WNT1(NM_005430.4):c.218G>A (p.(Arg73His)) - WNT1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.242G>C r.(?) p.(Ser81Thr) Unknown - likely benign g.49373388G>C - WNT1(NM_005430.3):c.242G>C (p.(Ser81Thr)) - WNT1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 2 c.255del r.(?) p.(Leu86Cysfs*) Both (homozygous) - likely pathogenic g.49373401del - 255delG - WNT1_000035 - PubMed: Essawi 2018, Journal: Essawi 2018 - - Germline - - - - - DNA PCR, SEQ - - OI AN_005854 PubMed: Essawi 2018 - - - India - - - - - 1 Sofie Symoens
+/? 2 c.255del r.(?) p.(Leu86Cysfs*) Both (homozygous) - pathogenic g.49373401del - 255delG - WNT1_000035 - PubMed: Nampoothiri 2019 - - Germline - - - - - DNA SEQ - - OI - PubMed: Nampoothiri 2019 - - - India - - - - - 1 Raymond Dalgleish
+/+ 2 c.259C>T r.(?) p.(Gln87*) Unknown - pathogenic g.49373405C>T - - - WNT1_000008 - PubMed: Pyott 2013 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Pyott 2013 The proband (II-1) has an affected younger sibling (II-2). The phenotype is consistent with OI III but has not been independently confirmed. - - - - - - - - 1 Peter Byers
-?/. - c.264T>A r.(?) p.(Ser88Arg) Unknown - likely benign g.49373410T>A g.48979627T>A WNT1(NM_005430.3):c.264T>A (p.S88R, p.(Ser88Arg)), WNT1(NM_005430.4):c.264T>A (p.S88R) - WNT1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.264T>A r.(?) p.(Ser88Arg) Unknown - VUS g.49373410T>A g.48979627T>A WNT1(NM_005430.3):c.264T>A (p.S88R, p.(Ser88Arg)), WNT1(NM_005430.4):c.264T>A (p.S88R) - WNT1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.264T>A r.(?) p.(Ser88Arg) Unknown - VUS g.49373410T>A g.48979627T>A WNT1(NM_005430.3):c.264T>A (p.S88R, p.(Ser88Arg)), WNT1(NM_005430.4):c.264T>A (p.S88R) - WNT1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.268G>A r.(?) p.(Val90Met) Unknown - VUS g.49373414G>A - WNT1(NM_005430.4):c.268G>A (p.V90M) - WNT1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.287_300del r.(?) p.(Gln96Profs*54) Both (homozygous) - pathogenic g.49373433_49373446del - - - WNT1_000002 - PubMed: Fahiminiya 2013 - - Germline - - - - - DNA SEQ - - OI - PubMed: Fahiminiya 2013 This patients family was reported in further depth as Family 2 by {PMID25010833:Palomo et al., 2014}. - - - - - - - - 1 Raymond Dalgleish
+/+ 2 c.287_300del r.(?) p.(Gln96Profs*54) Both (homozygous) - pathogenic g.49373433_49373446del - - - WNT1_000002 - PubMed: Pyott 2013 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Pyott 2013 The parents of the proband and a younger brother are heterozygous for the variant. - - - Newfoundland - - - - 1 Peter Byers
+/+ 2 c.301C>T r.(?) p.(Arg101Cys) Paternal (confirmed) - pathogenic g.49373447C>T - - - WNT1_000028 - PubMed: Lu 2018 - - Germline - - - - - DNA SEQ - - OI - PubMed: Lu 2018 - - - - - - - - - 1 Raymond Dalgleish
+/+ 2 c.301C>T r.(?) p.(Arg101Cys) Maternal (confirmed) - pathogenic g.49373447C>T - - - WNT1_000028 - PubMed: Lu 2018 - - Germline - - - - - DNA SEQ - - OI - PubMed: Lu 2018 - - - - - - - - - 1 Raymond Dalgleish
+/+ 2 c.301C>T r.(?) p.(Arg101Cys) Maternal (confirmed) - pathogenic g.49373447C>T - - - WNT1_000028 - PubMed: Lu 2018 - - Germline - - - - - DNA SEQ - - OI - PubMed: Lu 2018 - - - - - - - - - 1 Raymond Dalgleish
+/? 2 c.301C>T r.(?) p.(Arg101Cys) Paternal (confirmed) - pathogenic g.49373447C>T - - - WNT1_000028 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/? 2 c.301C>T r.(?) p.(Arg101Cys) Maternal (confirmed) - pathogenic g.49373447C>T - - - WNT1_000028 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/? 2 c.301C>T r.(?) p.(Arg101Cys) Maternal (confirmed) - pathogenic g.49373447C>T - - - WNT1_000028 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/? 2 c.306G>T r.(?) p.(Trp102Cys) Both (homozygous) - pathogenic g.49373452G>T - - - WNT1_000057 - PubMed: Mrosk 2018 - - Germline - - - - - DNA SEQ - - OI - PubMed: Mrosk 2018 - - - India - - - - - 1 Raymond Dalgleish
+?/? 2 c.306G>T r.(?) p.(Trp102Cys) Both (homozygous) - likely pathogenic g.49373452G>T - - - WNT1_000057 - PubMed: Mrosk 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES OI - PubMed: Mrosk 2018 - - - India - - - - - 1 Raymond Dalgleish
?/. - c.313C>T r.(?) p.(Pro105Ser) Unknown - VUS g.49373459C>T g.48979676C>T WNT1(NM_005430.4):c.313C>T (p.P105S) - WNT1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.359-3C>G r.spl? p.? Unknown - pathogenic g.49374204C>G g.48980421C>G - - WNT1_000025 - - - - Germline - - - - - DNA - - - ? - - - - - - - - - - - 1 Muhammad Umair
+/+ 2i c.359-3C>G r.spl p.? Both (homozygous) - pathogenic g.49374204C>G - - - WNT1_000025 - PubMed: Umair 2017 - - Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ, SEQ-NG - WES OI - PubMed: Umair 2017 - - yes Pakistan - - - - - 1 Raymond Dalgleish
+?/. - c.359G>A r.(?) p.(Gly120Asp) Both (homozygous) - likely pathogenic g.49374207G>A g.48980424G>A - - WNT1_000103 ACMG PubMed: Tuysuz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel OI Pat107 PubMed: Tuysuz 2022 - - - Turkey - - - - - 1 Johan den Dunnen
+?/. - c.359G>A r.(?) p.(Gly120Asp) Both (homozygous) - likely pathogenic g.49374207G>A g.48980424G>A - - WNT1_000103 ACMG PubMed: Tuysuz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel OI Pat108 PubMed: Tuysuz 2022 - - - Turkey - - - - - 1 Johan den Dunnen
+/? 3 c.369A>C r.(?) p.(Glu123Asp) Paternal (confirmed) - pathogenic g.49374217A>C - - - WNT1_000070 - PubMed: Won 2017 - - Germline - - - - - DNA SEQ - - OI - PubMed: Won 2017 - - - Korea - - - - - 1 Raymond Dalgleish
+/? 3 c.371C>T r.(?) p.(Thr124Met) Paternal (confirmed) - pathogenic g.49374219C>T - - - WNT1_000049 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
?/. - c.373G>A r.(?) p.(Ala125Thr) Unknown - VUS g.49374221G>A g.48980438G>A WNT1(NM_005430.4):c.373G>A (p.A125T) - WNT1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.382T>G r.(?) p.(Phe128Val) Maternal (confirmed) - pathogenic g.49374230T>G - - - WNT1_000029 - PubMed: Lu 2018 - - Germline - - - - - DNA SEQ - - OI - PubMed: Lu 2018 - - - - - - - - - 1 Raymond Dalgleish
+/? 3 c.382T>G r.(?) p.(Phe128Val) Maternal (confirmed) - pathogenic g.49374230T>G - - - WNT1_000029 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/. 3 c.385G>A r.(?) p.(Ala129Thr) Parent #1 - pathogenic (recessive) g.49374233G>A g.48980450G>A - - WNT1_000021 - PubMed: Liu 2017 - - Germline - 1/101 cases OI - - - DNA SEQ-NG - targeted 14-gene panel OI OI Fam37 PubMed: Liu 2017 analysis 101 unrelated OI families - - China - - - - - 1 Johan den Dunnen
+/+ 3 c.385G>A r.(?) p.(Ala129Thr) Paternal (inferred) - pathogenic g.49374233G>A - - - WNT1_000021 - PubMed: Liu 2016 - - Germline - - - - - DNA SEQ-NG, PCR, SEQ - custom gene panel OI - PubMed: Liu 2016 - - - China - - - - - 1 Raymond Dalgleish
+/+ 3 c.385G>A r.(?) p.(Ala129Thr) Both (homozygous) - pathogenic g.49374233G>A - - - WNT1_000021 - PubMed: Lu 2018 - - Germline - - - - - DNA SEQ - - OI - PubMed: Lu 2018 - - - - - - - - - 1 Raymond Dalgleish
+/? 3 c.397A>T r.(?) (p.Ala133Thr) Paternal (confirmed) - pathogenic g.49374245A>T - - - WNT1_000055 - PubMed: Lu 2018 - - Germline - - - - - DNA SEQ - - OI - PubMed: Lu 2018 - - - China - - - - - 1 Raymond Dalgleish
+/+ 3 c.397G>A r.(?) p.(Ala133Thr) Paternal (confirmed) - pathogenic g.49374245G>A - - - WNT1_000032 - PubMed: Lu 2018 - - Germline - - - - - DNA SEQ - - OI - PubMed: Lu 2018 The probands sister (P9) also harbours the same two variants and has the same OI type. - - - - - - - - 1 Raymond Dalgleish
+/+ 3 c.397G>A r.(?) p.(Ala133Thr) Maternal (inferred) - pathogenic g.49374245G>A - - - WNT1_000032 - PubMed: Lu 2018 - - Germline - - - - - DNA SEQ - - OI - PubMed: Lu 2018 The probands brother (P11) also harbours the same two variants and has the same OI type.; The paternal variant is misreported as c.774C>T in Supplemntal Figure 2. - - - - - - - - 1 Raymond Dalgleish
+/? 3 c.397G>A r.(?) p.(Ala133Thr) Paternal (confirmed) - pathogenic g.49374245G>A - - - WNT1_000032 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/+ 3 c.421C>T r.(?) p.(Arg141Cys) Both (homozygous) - pathogenic g.49374269C>T - - - WNT1_000024 - PubMed: Caparros-Martin 2016 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Caparros-Martin 2016 - - - Turkey - - - - - 1 Raymond Dalgleish
+/+ 3 c.428G>T r.(?) p.(Cys143Phe) Both (homozygous) - pathogenic g.49374276G>T - - - WNT1_000001 - PubMed: Fahiminiya 2013 - - Germline - - - - - DNA SEQ - - OI - PubMed: Fahiminiya 2013 This patients family was reported in further depth as Family 1 by {PMID25010833:Palomo et al., 2014}. - - - - - - - - 1 Raymond Dalgleish
+/? 3 c.457T>G r.(?) p.(Cys153Gly) Maternal (confirmed) - pathogenic g.49374305T>G - - - WNT1_000071 - PubMed: Won 2017 - - Germline - - - - - DNA SEQ - - OI - PubMed: Won 2017 - - - Korea - - - - - 1 Raymond Dalgleish
+/+ 3 c.466del r.(?) p.(Arg156Glyfs*43) Both (homozygous) - pathogenic g.49374314del - - - WNT1_000027 - PubMed: Lu 2018 - - Germline - - - - - DNA SEQ - - OI - PubMed: Lu 2018 - - - - - - - - - 1 Raymond Dalgleish
+/? 3 c.466del r.(?) p.(Arg156Glyfs*43) Both (homozygous) - pathogenic g.49374314del - - - WNT1_000027 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
?/. - c.482G>A r.(?) p.(Gly161Glu) Unknown - VUS g.49374330G>A - WNT1(NM_005430.4):c.482G>A (p.(Gly161Glu)) - WNT1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 3 c.500dup r.(?) Cys170Leufs*6 Maternal (confirmed) - pathogenic g.49374348dup - 500dupG - WNT1_000054 - PubMed: Cao 2019 - - Germline - - - - - DNA SEQ - - OI - PubMed: Cao 2019 - - - China - - - - - 1 Raymond Dalgleish
+?/. - c.501G>C r.(?) p.(Trp167Cys) Unknown - likely pathogenic g.49374349G>C g.48980566G>C WNT1(NM_005430.4):c.501G>C (p.W167C) - WNT1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 3 c.501G>C r.(?) p.(Trp167Cys) Maternal (confirmed) - pathogenic g.49374349G>C - - - WNT1_000048 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
?/. - c.505G>A r.(?) p.(Gly169Ser) Unknown - VUS g.49374353G>A g.48980570G>A WNT1(NM_005430.4):c.505G>A (p.G169S) - WNT1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.505G>T r.(?) p.(Gly169Cys) Parent #2 - pathogenic (recessive) g.49374353G>T g.48980570G>T - - WNT1_000020 - PubMed: Liu 2017 - - Germline - 1/101 cases OI - - - DNA SEQ-NG - targeted 14-gene panel OI OI Fam36 PubMed: Liu 2017 analysis 101 unrelated OI families - - China - - - - - 1 Johan den Dunnen
+/+ 3 c.505G>T r.(?) p.(Gly169Cys) Maternal (confirmed) - pathogenic g.49374353G>T - 110G>T - WNT1_000020 misreported twice as 110G>T PubMed: Liu 2016 - - Germline - - - - - DNA SEQ-NG, PCR, SEQ - custom gene panel OI - PubMed: Liu 2016 - - - China - - - - - 1 Raymond Dalgleish
?/. - c.505G>T r.(?) p.(Gly169Cys) Unknown - VUS g.49374353G>T - WNT1(NM_005430.3):c.505G>T (p.(Gly169Cys)) - WNT1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.506dup r.(?) p.(Cys170Leufs*6) Parent #2 - pathogenic (recessive) g.49374354dup g.48980571dup 506dupG - WNT1_000007 - PubMed: Liu 2017 - - Germline - 1/101 cases OI - - - DNA SEQ-NG - targeted 14-gene panel OI OI Fam38 PubMed: Liu 2017 analysis 101 unrelated OI families - - China - - - - - 1 Johan den Dunnen
+/. 3 c.506dup r.(?) p.(Cys170Leufs*6) Both (homozygous) - pathogenic (recessive) g.49374354dup g.48980571dup 506dupG - WNT1_000007 - PubMed: Liu 2017 - - Germline - 1/101 cases OI - - - DNA SEQ-NG - targeted 14-gene panel OI OI Fam88 PubMed: Liu 2017 analysis 101 unrelated OI families F - China - - - - - 1 Johan den Dunnen
+/+ 3 c.506dup r.(?) p.(Cys170Leufs*6) Unknown - pathogenic g.49374354dup - - - WNT1_000007 - PubMed: Pyott 2013 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Pyott 2013 The proband (II-1) has an affected younger sibling (II-2). The phenotype is consistent with OI III but has not been independently confirmed. - - - - - - - - 1 Peter Byers
+/+ 3 c.506dup r.(?) p.(Cys170Leufs*6) Both (homozygous) - pathogenic g.49374354dup - - - WNT1_000007 - PubMed: Liu 2016 - - Germline - - - - - DNA SEQ-NG, PCR, SEQ - custom gene panel OI - PubMed: Liu 2016 - - - China - - - - - 1 Raymond Dalgleish
+/+ 3 c.506dup r.(?) p.(Cys170Leufs*6) Maternal (confirmed) - pathogenic g.49374354dup - - - WNT1_000007 - PubMed: Liu 2016 - - Germline - - - - - DNA SEQ-NG, PCR, SEQ - custom gene panel OI - PubMed: Liu 2016 - - - China - - - - - 1 Raymond Dalgleish
+/+ 3 c.506dup r.(?) p.(Cys170Leufs*6) Both (homozygous) - pathogenic g.49374354dup - - - WNT1_000007 - PubMed: Caparros-Martin 2016 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Caparros-Martin 2016 - - - Egypt - - - - - 1 Raymond Dalgleish
+?/? 3 c.506dup r.(?) p.(Cys170Leufs*6) Both (homozygous) - likely pathogenic g.49374354dup - - - WNT1_000007 - - - - Germline - - - - - DNA PCR, SEQ - - OI AN_005850 - Has another sib (brother) with the same causal variant - - India - - - - - 1 Sofie Symoens
+?/? 3 c.506dup r.(?) p.(Cys170Leufs*6) Both (homozygous) - likely pathogenic g.49374354dup - - - WNT1_000007 - - - - Germline - - - - - DNA PCR, SEQ - - OI AN_005851 - - - - India - - - - - 1 Sofie Symoens
+?/? 3 c.506dup r.(?) p.(Cys170Leufs*6) Both (homozygous) - likely pathogenic g.49374354dup - - - WNT1_000007 - PubMed: Essawi 2018, Journal: Essawi 2018 - - Germline - - - - - DNA PCR, SEQ - - OI AN_005852 PubMed: Essawi 2018 - - - India - - - - - 1 Sofie Symoens
+?/? 3 c.506dup r.(?) p.(Cys170Leufs*6) Both (homozygous) - likely pathogenic g.49374354dup - - - WNT1_000007 - PubMed: Essawi 2018, Journal: Essawi 2018 - - Germline - - - - - DNA PCR, SEQ - - OI AN_005853 PubMed: Essawi 2018 - - - India - - - - - 1 Sofie Symoens
+/? 3 c.506dup r.(?) p.(Cys170Leufs*6) Both (homozygous) - pathogenic g.49374354dup - - - WNT1_000007 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/? 3 c.506dup r.(?) p.(Cys170Leufs*6) Both (homozygous) - pathogenic g.49374354dup - - - WNT1_000007 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/? 3 c.506dup r.(?) p.(Cys170Leufs*6) Both (homozygous) - pathogenic g.49374354dup - - - WNT1_000007 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/? 3 c.506dup r.(?) p.(Cys170Leufs*6) Maternal (confirmed) - pathogenic g.49374354dup - - - WNT1_000007 - PubMed: Lu 2018 - - Germline - - - - - DNA SEQ - - OI - PubMed: Lu 2018 - - - China - - - - - 1 Raymond Dalgleish
+/? 3 c.506dup r.(?) p.(Cys170Leufs*6) Both (homozygous) - pathogenic g.49374354dup - - - WNT1_000007 - PubMed: Mrosk 2018 - - Germline - - - - - DNA SEQ - - OI - PubMed: Mrosk 2018 - - - India - - - - - 1 Raymond Dalgleish
+/? 3 c.506dup r.(?) p.(Cys170Leufs*6) Both (homozygous) - pathogenic g.49374354dup - - - WNT1_000007 - PubMed: Mrosk 2018 - - Germline - - - - - DNA SEQ - - ? - PubMed: Mrosk 2018 The patient was homozygous for the variation. Whilst the patients mother as a heterozygous, data for the patients father is not known. - - India - - - - - 1 Raymond Dalgleish
+/? 3 c.506dup r.(?) p.(Cys170Leufs*6) Both (homozygous) - pathogenic g.49374354dup - - - WNT1_000007 - PubMed: Mrosk 2018 - - Germline - - - - - DNA SEQ - - OI - PubMed: Mrosk 2018 The was hypertrophic callus formation noted in the patient. - - India - - - - - 1 Raymond Dalgleish
+/? 3 c.506dup r.(?) p.(Cys170Leufs*6) Both (homozygous) - pathogenic g.49374354dup - - - WNT1_000007 - PubMed: Mrosk 2018 - - Germline - - - - - DNA SEQ - - OI - PubMed: Mrosk 2018 - - - India - - - - - 1 Raymond Dalgleish
+/? 3 c.506dup r.(?) p.(Cys170Leufs*6) Both (homozygous) - pathogenic g.49374354dup - - - WNT1_000007 - PubMed: Mrosk 2018 - - Germline - - - - - DNA SEQ - - OI - PubMed: Mrosk 2018 - - - India - - - - - 1 Raymond Dalgleish
+/? 3 c.506dup r.(?) p.(Cys170Leufs*6) Both (homozygous) - pathogenic g.49374354dup - - - WNT1_000007 - PubMed: Mrosk 2018 - - Germline - - - - - DNA SEQ - - OI - PubMed: Mrosk 2018 - - - India - - - - - 1 Raymond Dalgleish
+/? 3 c.506dup r.(?) p.(Cys170Leufs*6) Both (homozygous) - pathogenic g.49374354dup - - - WNT1_000007 - PubMed: Nampoothiri 2019 - - Germline - - - - - DNA SEQ - - OI - PubMed: Nampoothiri 2019 The patient had a brother (reported as PI-2) with the same variation. - - India - - - - - 1 Raymond Dalgleish
+/? 3 c.506dup r.(?) p.(Cys170Leufs*6) Both (homozygous) - pathogenic g.49374354dup - - - WNT1_000007 - PubMed: Nampoothiri 2019 - - Germline - - - - - DNA SEQ - - OI - PubMed: Nampoothiri 2019 The patient had a sister (reported as PI-1) with the same variation. - - India - - - - - 1 Raymond Dalgleish
+/? 3 c.506dup r.(?) p.(Cys170Leufs*6) Maternal (confirmed) - pathogenic g.49374354dup - - - WNT1_000007 - PubMed: Nampoothiri 2019 - - Germline - - - - - DNA SEQ - - OI - PubMed: Nampoothiri 2019 The patient had relatives (reported as PI-1 abd PI-2 in the paper) with the same variation. - - India - - - - - 1 Raymond Dalgleish
+/? 3 c.506dup r.(?) p.(Cys170Leufs*6) Both (homozygous) - pathogenic g.49374354dup - - - WNT1_000007 - PubMed: Nampoothiri 2019 - - Germline - - - - - DNA SEQ - - OI - PubMed: Nampoothiri 2019 - - - India - - - - - 1 Raymond Dalgleish
+/? 3 c.506dup r.(?) p.(Cys170Leufs*6) Unknown - pathogenic g.49374354dup - - - WNT1_000007 - PubMed: Nampoothiri 2019 - - Germline - - - - - DNA SEQ - - OI - PubMed: Nampoothiri 2019 - - - India - - - - - 1 Raymond Dalgleish
+/. 3 c.506G>A r.(?) p.(Gly169Asp) Parent #1 - pathogenic (recessive) g.49374354G>A g.48980571G>A - - WNT1_000022 - PubMed: Liu 2017 - - Germline - 1/101 cases OI - - - DNA SEQ-NG - targeted 14-gene panel OI OI Fam38 PubMed: Liu 2017 analysis 101 unrelated OI families - - China - - - - - 1 Johan den Dunnen
+/. 3 c.506G>A r.(?) p.(Gly169Asp) Parent #2 - pathogenic (recessive) g.49374354G>A g.48980571G>A - - WNT1_000022 - PubMed: Liu 2017 - - Germline - 1/101 cases OI - - - DNA SEQ-NG - targeted 14-gene panel OI OI Fam37 PubMed: Liu 2017 analysis 101 unrelated OI families - - China - - - - - 1 Johan den Dunnen
+/+ 3 c.506G>A r.(?) p.(Gly169Asp) Maternal (confirmed) - pathogenic g.49374354G>A - - - WNT1_000022 - PubMed: Liu 2016 - - Germline - - - - - DNA SEQ-NG, PCR, SEQ - custom gene panel OI - PubMed: Liu 2016 - - - China - - - - - 1 Raymond Dalgleish
+/+ 3 c.506G>A r.(?) p.(Gly169Asp) Paternal (inferred) - pathogenic g.49374354G>A - - - WNT1_000022 - PubMed: Liu 2016 - - Germline - - - - - DNA SEQ-NG, PCR, SEQ - custom gene panel OI - PubMed: Liu 2016 - - - China - - - - - 1 Raymond Dalgleish
+/? 3 c.506G>A r.(?) p.(Gly169Asp) Maternal (confirmed) - pathogenic g.49374354G>A - - - WNT1_000022 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/? 3 c.506G>A r.(?) p.(Gly169Asp) Paternal (confirmed) - pathogenic g.49374354G>A - - - WNT1_000022 - PubMed: Cao 2019 - - Germline - - - - - DNA SEQ - - OI - PubMed: Cao 2019 - - - China - - - - - 1 Raymond Dalgleish
+/. - c.506G>A r.(?) p.(Gly169Asp) Unknown - pathogenic g.49374354G>A - WNT1(NM_005430.4):c.506G>A (p.(Gly169Asp)) - WNT1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.529G>T r.(?) p.(Gly177Cys) Both (homozygous) - pathogenic g.49374377G>T - - - WNT1_000010 - PubMed: Keupp 2013 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Keupp 2013 - - yes Turkey - - - - - 1 Raymond Dalgleish
+/+ 3 c.534_545del r.(?) p.(Leu179_Arg182del) Both (homozygous) - pathogenic g.49374382_49374393del - - - WNT1_000016 - PubMed: Stephen 2015 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG - WES OI - PubMed: Stephen 2015 The patient has two affected second cousins once removed and the parents are consanguineous and confirmed to be heterozygous for the variant.; The variant deletion spans are incorrectly reported at the DNA and protein levels. - - India - - - - - 1 Raymond Dalgleish
+/+ 3 c.538_560del r.(?) p.(Phe180Argfs*129) Both (homozygous) - pathogenic g.49374386_49374408del - - - WNT1_000026 - PubMed: Lu 2018 - - Germline - - - - - DNA SEQ - - OI - PubMed: Lu 2018 - - - - - - - - - 1 Raymond Dalgleish
?/. - c.541G>A r.(?) p.(Gly181Ser) Unknown - VUS g.49374389G>A - WNT1(NM_005430.4):c.541G>A (p.G181S) - WNT1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.565G>T r.(?) p.(Glu189*) Unknown - pathogenic g.49374413G>T - - - WNT1_000012 - PubMed: Keupp 2013 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Keupp 2013 - - yes Turkey - - - - - 1 Raymond Dalgleish
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