Full data view for gene WDR45

Information The variants shown are described using the NM_007075.3 transcript reference sequence.

218 entries on 3 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     
?/. - c.-17-2247T>C r.(=) p.(=) Maternal (inferred) - VUS g.48938018A>G g.49080359= - - WDR45_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-17-2247T>C r.(=) p.(=) Maternal (inferred) - VUS g.48938018A>G g.49080359= - - WDR45_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+/. - c.(?_-17-1)_(*1_?)del r.0? p.0? Unknown - pathogenic (dominant) g.(?_48932461)_(48935772_?)del g.(?_49074802)_(49078113_?)del del ex 3-8, 10, 12 - WDR45_000086 - PubMed: Hermann 2017 - - De novo - - - - - DNA PCRq, SEQ - - NBIA patient PubMed: Hermann 2017 2-generation family, 1 affected, unaffected non-carrier parents F - Germany - - - - - 1 Johan den Dunnen
+/. - c.-1_5del r.(?) p.0? Unknown - pathogenic (dominant) g.48935752_48935757del g.49078093_49078098del - - WDR45_000072 - PubMed: Haack 2012 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NBIA 63701 PubMed: Haack 2012, PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected parents F - Germany;France;Ireland - - - - - 1 Johan den Dunnen
?/. _1 - r.? p.? Parent #1 - VUS g.pter_48958100delins[NC_000011.9:118359082_qterinv] - - t(X;11)(p11.2;q23) WDR45_000103 - PubMed: Brassesco 2018 - - Somatic - - - - - DNA microscope, PCRlr, SEQ - - ALL patient PubMed: Brassesco 2018 - - - Brazil - - - - - 1 Johan den Dunnen
?/. _1 - r.? p.? Parent #1 - VUS g.[NC_000017.10:36871301_qter]delins[NC_000011.9:118353384_118359081];pter_48958100inv - - t(X;11;17)(p11.2;q23;q12) WDR45_000104 - PubMed: Brassesco 2018 - - DUPLICATE record - - - - - DNA microscope, PCRlr, SEQ - - ALL patient PubMed: Brassesco 2018 - - - Brazil - - - - - 1 Johan den Dunnen
+/. _1_12_ c.-439_*370[0] r.0 p.0 Unknown - pathogenic (dominant) g.(48915437_48922335)_(48942321_48967391)del g.(49057906_49064804)_(49085409_49110453)del hg18 g.(48802381_48809279)_(48829265_48854335)del - WDR45_000075 19.9 Kb deletion involving WDR45, CCDC120 and PRAF2 PubMed: Abidi 2016 - - De novo - - - - - DNA arrayCGH - - NBIA patient PubMed: Abidi 2016 - M - France - - - - - 1 Johan den Dunnen
+/. - c.1A>G r.(?) p.0? Unknown - pathogenic (dominant) g.48935754T>C g.49078095T>C - - WDR45_000073 - PubMed: Hayflick 2013 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NBIA NBIA21, patient PubMed: Hayflick 2013, PubMed: Crisp 2015 2-generation family, 1 affected, unaffected parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.2T>A r.(?) p.0? Unknown - pathogenic (dominant) g.48935753A>T g.49078094A>T - - WDR45_000135 - PubMed: Adang 2020 - - De novo - - - - - DNA SEQ - - NBIA Pat9 PubMed: Adang 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
./. - c.3G>C r.(?) p.(Met1?) Unknown - pathogenic g.48935752C>G g.49078093C>G - - WDR45_000005 splice variant PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) F - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
./. - c.3G>C r.(?) p.(Met1?) Unknown - pathogenic g.48935752C>G g.49078093C>G - - WDR45_000005 splice variant PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) F - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
+/. - c.14_20dup r.(?) p.(Gly8Thrfs*65) Maternal (confirmed) - pathogenic (dominant) g.48935735_48935741dup g.49078076_49078082dup 14_20dupCACTTCG - WDR45_000134 inherited from reportedly asymptomatic mother PubMed: Adang 2020 - - Germline - - - - - DNA RT-PCR, SEQ, SEQ-NG - WGS NBIA Pat15 PubMed: Adang 2020 2-generation family, 1 affected, unaffected parents M - - - - - - - 1 Johan den Dunnen
+/. - c.19C>T r.(?) p.(Arg7*) Unknown - pathogenic (dominant) g.48935736G>A g.49078077G>A - - WDR45_000070 - PubMed: Haack 2012 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NBIA 63704 PubMed: Haack 2012, PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected parents F - Puerto Rico Hispanic - - - - 1 Johan den Dunnen
+?/. - c.19C>T r.(?) p.(Arg7*) Unknown - pathogenic (dominant) g.48935736G>A g.49078077G>A - - WDR45_000070 - PubMed: Hamdan 2015 - - De novo - - - - - DNA SEQ-NG - WES ID 1883.659 PubMed: Hamdan 2015 - F - Canada - - - - - 1 Johan den Dunnen
+/. - c.19C>T r.(?) p.(Arg7*) Unknown - pathogenic (dominant) g.48935736G>A g.49078077G>A - - WDR45_000070 - PubMed: Chen 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NBIA Pat1 PubMed: Chen 2019 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - 1 Johan den Dunnen
+/. - c.19C>T r.(?) p.(Arg7*) Maternal (confirmed) - pathogenic (dominant) g.48935736G>A g.49078077G>A - - WDR45_000070 inherited from reportedly asymptomatic mother PubMed: Adang 2020 - - Germline - - - - - DNA SEQ - - NBIA Pat8 PubMed: Adang 2020 2-generation family, 1 affected, unaffected parents M - - - - - - - 1 Johan den Dunnen
+/. - c.19dup r.(?) p.(Arg7Profs*64) Unknown - pathogenic (dominant) g.48935736dup g.49078077dup - - WDR45_000071 - PubMed: Haack 2012 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NBIA 49841 PubMed: Haack 2012, PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected parents M - Germany - - - - - 1 Johan den Dunnen
?/. - c.20G>A r.(?) p.(Arg7Gln) Unknown - likely benign g.48935735C>T g.49078076C>T - - WDR45_000088 - PubMed: Kulikovskaja 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? PatB PubMed: Kulikovskaja 2018 - F - Germany - - - - - 1 Johan den Dunnen
+/. - c.38G>C r.[(38g>c,-17_55del)] p.[(Arg13Pro,Thr2_Met25del)] Unknown - pathogenic (dominant) g.48935717C>G g.49078058C>G - - WDR45_000069 - PubMed: Haack 2012 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NBIA 63700 PubMed: Haack 2012, PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected non-carrier parents/relatives F - Germany;United States native American (Sioux, Cherokee) - - - - 1 Johan den Dunnen
+/. - c.46C>T r.(?) p.(Gln16*) Unknown ACMG pathogenic (dominant) g.48935709G>A g.49078050G>A - - WDR45_000133 likely de novo PubMed: Helbig 2016 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES seizures Pat101 PubMed: Helbig 2016 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.52C>T r.(?) p.(Gln18*) Unknown - pathogenic (dominant) g.48935703G>A g.49078044G>A - - WDR45_000132 - PubMed: Adang 2020 - - De novo - - - - - DNA RT-PCR, SEQ, SEQ-NG - WES NBIA Pat16 PubMed: Adang 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.55+1G>A r.spl p.(?) Unknown - likely pathogenic g.48935699C>T g.49078040C>T - - WDR45_000067 - - - - Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
+/. - c.55+1G>C r.spl p.? Unknown - pathogenic (dominant) g.48935699C>G g.49078040C>G - - WDR45_000068 - PubMed: Hayflick 2013 - - De novo - - - - - DNA SEQ, SEQ-NG - - NBIA HS152 PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.56-1G>A r.spl p.? Unknown - pathogenic (dominant) g.48935571C>T g.49077912C>T - - WDR45_000066 - PubMed: Haack 2012 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NBIA 63705 PubMed: Haack 2012, PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected parents F - Romania;France - - - - - 1 Johan den Dunnen
+/. - c.64del r.(?) p.(Cys22Alafs*16) Unknown - pathogenic (dominant) g.48935565del g.49077906del 64DeIT - WDR45_000084 - PubMed: Fonderico 2017 - - De novo - - - - - DNA SEQ - - NBIA patient PubMed: Fonderico 2017 2-generation family, 1 affected, unaffected non-carrier parents F - Italy - - - - - 1 Johan den Dunnen
?/. - c.82G>A r.(?) p.(Gly28Ser) Unknown - VUS g.48935544C>T g.49077885C>T WDR45(NM_007075.3):c.82G>A (p.G28S) - WDR45_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.99C>T r.(?) p.(Asn33=) Unknown - likely benign g.48935527G>A g.49077868G>A WDR45(NM_007075.3):c.99C>T (p.N33=) - WDR45_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.100G>A r.(?) p.(Val34Met) Unknown - VUS g.48935526C>T g.49077867C>T WDR45(NM_001029896.1):c.100G>A (p.(Val34Met)), WDR45(NM_007075.3):c.100G>A (p.V34M), WDR45(NM_007075.4):c.100G>A (p.V34M) - WDR45_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.100G>A r.(?) p.(Val34Met) Unknown - VUS g.48935526C>T g.49077867C>T WDR45(NM_001029896.1):c.100G>A (p.(Val34Met)), WDR45(NM_007075.3):c.100G>A (p.V34M), WDR45(NM_007075.4):c.100G>A (p.V34M) - WDR45_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.100G>A r.(?) p.(Val34Met) Unknown - VUS g.48935526C>T g.49077867C>T - - WDR45_000021 - PubMed: Russo 2018 - - De novo - - - - - DNA SEQ - - NBIA Pat4 PubMed: Russo 2018 2-generation family, 1 affected, unaffected non-carrier parents F - Italy - - - - - 1 Johan den Dunnen
?/. - c.100G>A r.(?) p.(Val34Met) Unknown - VUS g.48935526C>T - WDR45(NM_001029896.1):c.100G>A (p.(Val34Met)), WDR45(NM_007075.3):c.100G>A (p.V34M), WDR45(NM_007075.4):c.100G>A (p.V34M) - WDR45_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.125dup r.(?) p.(His42Glnfs*29) Unknown - pathogenic (dominant) g.48935501dup g.49077842dup 125dupA - WDR45_000093 - PubMed: Ishiyama 2018 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NBIA Pat2 PubMed: Ishiyama 2018 2-generation family, 1 affected, unaffected parents F - Japan - - - - - 1 Johan den Dunnen
?/. - c.131-8C>A r.(=) p.(=) Unknown - VUS g.48935414G>T - WDR45(NM_007075.3):c.131-8C>A - WDR45_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.131-1G>A r.131_141del p.Asp44Glyfs*23 Unknown - pathogenic (dominant) g.48935407C>T g.49077748C>T - - WDR45_000090 >99% variant allele in blood leukocytes, saliva, hair root and nail PubMed: Nakashima 2016 - - De novo - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES NBIA Pat1 PubMed: Nakashima 2016 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - 1 Johan den Dunnen
+/. - c.131-1G>C r.spl? p.? Unknown - pathogenic g.48935407C>G - - - WDR45_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.147C>T r.(?) p.(Gly49=) Unknown - VUS g.48935390G>A g.49077731G>A WDR45(NM_007075.3):c.147C>T (p.G49=) - WDR45_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.147C>T r.[131_235del,=] p.[Asp44_Ser78del,Gly49=] Unknown - likely pathogenic g.48935390G>A g.49077731G>A - - WDR45_000039 effect on RNA exon skipping - - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood mRNA splicing analysis on tissue ? - - - - - Netherlands - - - - - 1 Tjakko van Ham
+/. - c.161_163del r.(?) p.(Val54del) Maternal (confirmed) - pathogenic (dominant) g.48935377_48935379del g.49077718_49077720del 161_163delTGG - WDR45_000078 mother mosaic PubMed: Zarate 2016, Journal: Zarate 2016 ClinVar-SCV000223914 - Germline - - - - - DNA SEQ, SEQ-NG - WES NBIA patient PubMed: Zarate 2016, Journal: Zarate 2016 2-generation family, affected brother sister, unaffected mosaic mother F;M no United States - - - - - 2 Johan den Dunnen
?/. - c.172C>T r.(?) p.(His58Tyr) Unknown - VUS g.48935365G>A - WDR45(NM_001029896.2):c.172C>T (p.(His58Tyr)) - WDR45_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.183C>A r.(?) p.(Asn61Lys) Unknown - pathogenic (dominant) g.48935354G>T g.49077695G>T - - WDR45_000065 - PubMed: Haack 2012 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NBIA NBIA10 PubMed: Haack 2012, PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected non-carrier parents F - Pakistan - - - - - 1 Johan den Dunnen
+/. - c.183C>A r.(?) p.(Asn61Lys) Unknown - pathogenic g.48935354G>T - - - WDR45_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.186del r.(?) p.(Leu63Trpfs*19) Unknown - pathogenic (dominant) g.48935352del g.49077693del 186delT - WDR45_000064 - PubMed: Hayflick 2013 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NBIA HS415 PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected parents F - - - - - - - 1 Johan den Dunnen
+/. - c.197T>A r.(?) p.(Val66Glu) Unknown - pathogenic (dominant) g.48935340A>T g.49077681A>T - - WDR45_000099 - PubMed: Khoury 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NBIA patient PubMed: Khoury 2019 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - 1 Johan den Dunnen
-?/. - c.202G>A r.(?) p.(Gly68Ser) Unknown - likely benign g.48935335C>T - WDR45(NM_001029896.1):c.202G>A (p.(Gly68Ser)) - WDR45_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.224C>A r.(?) p.(Ser75*) Unknown - pathogenic (dominant) g.48935313G>T g.49077654G>T - - WDR45_000092 - PubMed: Ishiyama 2018 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NBIA Pat1 PubMed: Ishiyama 2018 2-generation family, 1 affected, unaffected parents F - Japan - - - - - 1 Johan den Dunnen
+/. - c.228_229del r.(?) p.(Glu76Aspfs*38) Unknown - pathogenic (dominant) g.48935311_48935312del g.49077652_49077653del - - WDR45_000063 - PubMed: Haack 2012 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NBIA 63708 PubMed: Haack 2012, PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected non-carrier parents M - Germany;Scotland;Ireland - - - - - 1 Johan den Dunnen
+/. - c.235+1G>A r.spl p.? Unknown - pathogenic (dominant) g.48935301C>T g.49077642C>T - - WDR45_000062 - PubMed: Haack 2012, PubMed: Ingrassia 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NBIA 411-201 PubMed: Haack 2012, PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected non-carrier parents F - Italy - - - - - 1 Johan den Dunnen
+/. - c.235+1G>T r.spl p.? Unknown - pathogenic (dominant) g.48935301C>A g.49077642C>A - - WDR45_000091 - PubMed: Percy 2018 - - De novo - - - - random X-inactivation DNA SEQ, SEQ-NG - WES NBIA PatB PubMed: Percy 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
-/. - c.235+18G>T r.(=) p.(=) Unknown - benign g.48935284C>A g.49077625C>A WDR45(NM_007075.3):c.235+18G>T, WDR45(NM_007075.4):c.235+18G>T - WDR45_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.235+18G>T r.(=) p.(=) Unknown - benign g.48935284C>A g.49077625C>A WDR45(NM_007075.3):c.235+18G>T, WDR45(NM_007075.4):c.235+18G>T - WDR45_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.235+18G>T r.(=) p.(=) Unknown - benign g.48935284C>A g.49077625C>A WDR45(NM_007075.3):c.235+18G>T, WDR45(NM_007075.4):c.235+18G>T - WDR45_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.236-22G>A r.(=) p.(=) Unknown - likely benign g.48934434C>T g.49076775C>T WDR45(NM_007075.4):c.236-22G>A - WDR45_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.236-18A>G r.[131_235del;235_236ins236-17_236-1] p.(=) Unknown - pathogenic (dominant) g.48934430T>C g.49076771T>C - - WDR45_000089 - PubMed: Willoughby 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES trio NBIA patient PubMed: Willoughby 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-?/. - c.236-5C>A r.spl? p.? Unknown - likely benign g.48934417G>T - WDR45(NM_007075.4):c.236-5C>A - WDR45_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.248G>A r.(?) p.(Trp83*) Unknown - pathogenic (dominant) g.48934400C>T g.49076741C>T - - WDR45_000131 >99% variant allele in blood leukocytes, saliva, hair root and nail PubMed: Nakashima 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NBIA Pat2 PubMed: Nakashima 2016 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - 1 Johan den Dunnen
+?/. - c.249G>A r.(?) p.(Trp83Ter) Unknown - likely pathogenic g.48934399C>T g.49076740C>T - - WDR45_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.249G>A r.(?) p.(Trp83*) Unknown - pathogenic (dominant) g.48934399C>T g.49076740C>T - - WDR45_000029 - PubMed: Lim 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - NBIA patient PubMed: Lim 2018 2-generation family, 1 affected, unaffected parents F no Malaysia India - - - - 1 Johan den Dunnen
+/. - c.251A>G r.(?) p.(Asp84Gly) Unknown - pathogenic (dominant) g.48934397T>C g.49076738T>C - - WDR45_000076 father not available PubMed: Long 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - NBIA patient PubMed: Long 2015 - F - Canada - - - - - 1 Johan den Dunnen
+/. - c.251del r.(?) p.(Asp84Alafs*34) Unknown - pathogenic (dominant) g.48934397del g.49076738del 251delA - WDR45_000130 - PubMed: Russo 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - NBIA Pat3 PubMed: Russo 2018 2-generation family, 1 affected, unaffected parents F - Italy - - - - - 1 Johan den Dunnen
+/. - c.293T>C r.(?) p.(Leu98Pro) Unknown - pathogenic (dominant) g.48934355A>G g.49076696A>G - - WDR45_000061 - PubMed: Haack 2012 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NBIA 63702 PubMed: Haack 2012, PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected parents/relatives F - United States African American - - - - 1 Johan den Dunnen
+/. - c.293T>C r.293u>c p.Leu98Pro Unknown - pathogenic (dominant) g.48934355A>G g.49076696A>G - - WDR45_000061 - PubMed: Nishioka 2015 - - Germline/De novo (untested) - - - - preferential expression variant allele DNA, RNA RT-PCR, SEQ - - NBIA Case 7 PubMed: Nishioka 2015 2-generation family, 1 affected, unaffected parents F - Japan - - - - - 1 Johan den Dunnen
?/. - c.295G>C r.(?) p.(Glu99Gln) Unknown - VUS g.48934353C>G g.49076694C>G - - WDR45_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.299T>C r.(?) p.(Phe100Ser) Unknown - pathogenic (dominant) g.48934349A>G g.49076690A>G chrX:48934349 A>G (Phe100Ser) - WDR45_000129 - PubMed: Adang 2020 - - De novo - - - - - DNA SEQ - - NBIA Pat5 PubMed: Adang 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.319_320del r.(?) p.(Leu107Phefs*7) Unknown - likely pathogenic (dominant) g.48934328_48934329del g.49076669_49076670del 319_320delCT - WDR45_000087 - PubMed: Kulikovskaja 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - NBIA PatA PubMed: Kulikovskaja 2018 - F - Serbia - - - - - 1 Johan den Dunnen
+/. - c.322del r.(?) p.(Ser108Leufs*10) Unknown - pathogenic (dominant) g.48934328del g.49076669del - - WDR45_000060 - PubMed: Ozawa 2014 - - De novo - - - - - DNA SEQ - - NBIA patient PubMed: Ozawa 2014 2-generation family, 1 affected, unaffected non-carrier parents F - Japan - - - - - 1 Johan den Dunnen
-?/. - c.339T>A r.(?) p.(His113Gln) Unknown - likely benign g.48934309A>T g.49076650A>T WDR45(NM_007075.3):c.339T>A (p.H113Q), WDR45(NM_007075.4):c.339T>A (p.H113Q) - WDR45_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.339T>A r.(?) p.(His113Gln) Unknown - likely benign g.48934309A>T - WDR45(NM_007075.3):c.339T>A (p.H113Q), WDR45(NM_007075.4):c.339T>A (p.H113Q) - WDR45_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.344+1G>A r.spl p.? Unknown - pathogenic (dominant) g.48934303C>T g.49076644C>T - - WDR45_000128 - PubMed: Russo 2018 - - De novo - - - - - DNA SEQ - - NBIA Pat4 PubMed: Russo 2018 2-generation family, 1 affected, unaffected non-carrier parents F - Italy - - - - - 1 Johan den Dunnen
./. - c.344+2T>A r.spl? p.? Unknown - pathogenic g.48934302A>T g.49076643A>T - - WDR45_000004 splice variant PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+/. - c.344+5G>A r.spl? p.? Unknown - pathogenic (dominant) g.48934299C>T g.49076640C>T - - WDR45_000100 - PubMed: Özgün 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NBIA patient PubMed: Özgün 2020 2-generation family, 1 affected, unaffected parents F - Turkey - - - - - 1 Johan den Dunnen
+/. - c.345-2A>C r.spl? p.? Unknown - pathogenic (dominant) g.48934185T>G g.49076526T>G NM_001029896.1:c.342-2A>C - WDR45_000059 - PubMed: Rathore 2014 - - De novo - - - - - DNA SEQ - - NBIA patient PubMed: Rathore 2014 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. - c.345-1G>A r.345_439del p.Ile116Alafs*3 Unknown - pathogenic (dominant) g.48934184C>T g.49076525C>T - - WDR45_000127 - PubMed: Ryu 2015 - - De novo - - - - - DNA, RNA RT-PCR, SEQ - - NBIA patient PubMed: Ryu 2015 - F - Korea - - - - - 1 Johan den Dunnen
-?/. - c.354C>T r.(?) p.(Ile118=) Unknown - likely benign g.48934174G>A g.49076515G>A WDR45(NM_007075.3):c.354C>T (p.I118=), WDR45(NM_007075.4):c.354C>T (p.I118=) - WDR45_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.354C>T r.(?) p.(Ile118=) Unknown - likely benign g.48934174G>A g.49076515G>A WDR45(NM_007075.3):c.354C>T (p.I118=), WDR45(NM_007075.4):c.354C>T (p.I118=) - WDR45_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.354C>T r.(?) p.(Ile118=) Unknown - benign g.48934174G>A g.49076515G>A WDR45(NM_007075.3):c.354C>T (p.I118=), WDR45(NM_007075.4):c.354C>T (p.I118=) - WDR45_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.359dup r.(?) p.(Lys121Glufs*18) Unknown - pathogenic (dominant) g.48934169dup g.49076510dup - - WDR45_000058 - PubMed: Haack 2012 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NBIA 63711 PubMed: Haack 2012, PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected non-carrier parents/relatives F - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.381C>G r.(?) p.(Tyr127Ter) Unknown - pathogenic g.48934147G>C g.49076488G>C WDR45(NM_007075.4):c.381C>G (p.Y127*) - WDR45_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381C>T r.(?) p.(Tyr127=) Unknown - likely benign g.48934147G>A g.49076488G>A WDR45(NM_007075.3):c.381C>T (p.Y127=) - WDR45_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.400C>T r.(?) p.(Arg134*) Unknown - pathogenic (dominant) g.48934128G>A g.49076469G>A - - WDR45_000057 - PubMed: Haack 2012 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NBIA 63707 PubMed: Haack 2012, PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected non-carrier parents/relatives F - - - - - - - 1 Johan den Dunnen
+/. - c.400C>T r.(?) p.(Arg134*) Unknown - pathogenic (dominant) g.48934128G>A g.49076469G>A - - WDR45_000057 - PubMed: Nishioka 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - NBIA Case 5 PubMed: Nishioka 2015 2-generation family, 1 affected, unaffected parents F - Japan - - - - - 1 Johan den Dunnen
+/. - c.400C>T r.(?) p.(Arg134*) Unknown - pathogenic (dominant) g.48934128G>A g.49076469G>A - - WDR45_000057 - PubMed: Xixis 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NBIA patient PubMed: Xixis 2015, PubMed: Xixis 2016 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. - c.400C>T r.(?) p.(Arg134*) Unknown - pathogenic (dominant) g.48934128G>A g.49076469G>A - - WDR45_000057 low level somatic mosaicism nails mother PubMed: Nakashima 2016 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NBIA Pat3 PubMed: Nakashima 2016 2-generation family, 1 affected, unaffected parents M - Japan - - - - - 1 Johan den Dunnen
+/. - c.400C>T r.(?) p.(Arg134Ter) Unknown - pathogenic g.48934128G>A g.49076469G>A NM_001029896:c400C>T - WDR45_000057 - PubMed: Salinas 2020 SUB7803621 - Unknown - - - - - DNA SEQ-NG - WES ? Pat103 PubMed: Salinas 2020 patient F - - - - - - - 1 Johan den Dunnen
+/. - c.401G>C r.(?) p.(Arg134Pro) Unknown - pathogenic (dominant) g.48934127C>G g.49076468C>G - - WDR45_000126 - PubMed: Chen 2019 - - De novo - - - - - DNA RT-PCR, SEQ, SEQ-NG - WES NBIA Pat2 PubMed: Chen 2019 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - 1 Johan den Dunnen
+/. - c.405_409del r.(?) p.(Lys135Asnfs*2) Unknown - pathogenic (dominant) g.48934119_48934123del g.49076460_49076464del - - WDR45_000056 - PubMed: Haack 2012 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NBIA 63709 PubMed: Haack 2012, PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected parents F - Italy;United States northern Europe, native American - - - - 1 Johan den Dunnen
+/. - c.411dup r.(?) p.(Glu138*) Unknown - pathogenic (dominant) g.48934119dup g.49076460dup 412insT - WDR45_000101 - PubMed: Rohani 2019 - - De novo - - - - - DNA SEQ - - NBIA Pat2 PubMed: Rohani 2019 2-generation family, 1 affected, unaffected non-carrier parents F - Iran - - - - - 1 Johan den Dunnen
+/. - c.411dup r.(?) p.(Glu138*) Unknown - pathogenic (dominant) g.48934119dup g.49076460dup 411dupT - WDR45_000101 - PubMed: Sato 2020 - - Germline/De novo (untested) - - - - - DNA SEQ - - NBIA patient PubMed: Sato 2020 - F - Japan - - - - - 1 Johan den Dunnen
+/. - c.412G>T r.(?) p.(Glu138*) Unknown - pathogenic (dominant) g.48934116C>A g.49076457C>A - - WDR45_000125 - PubMed: Adang 2020 - - De novo - - - - - DNA SEQ - - NBIA Pat14 PubMed: Adang 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.414_419del r.(?) p.(Glu138_Phe139del) Unknown - pathogenic (dominant) g.48934115_48934120del g.49076456_49076461del 414_419delGTTTGA - WDR45_000124 - PubMed: Nishioka 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - NBIA Case 3 PubMed: Nishioka 2015 2-generation family, 1 affected, unaffected parents F - Japan - - - - - 1 Johan den Dunnen
+/. - c.437dup r.437dup p.Leu148Alafs*3 Unknown - pathogenic (dominant) g.48934092dup g.49076433dup 437dupA - WDR45_000055 - PubMed: Saitsu 2013 - - De novo - - - - normal expression both alleles in lymphoblastoid cell lines DNA, RNA RT-PCR, SEQ, SEQ-NG - WES NBIA subject 3 PubMed: Saitsu 2013 2-generation family, 1 affected, unaffected non-carrier parents F - Japan - - - - - 1 Johan den Dunnen
+/. - c.439+1G>T r.439_440ins[u;439+2_439+24] p.[al147_Leu148ins8 Unknown - pathogenic (dominant) g.48934088C>A g.49076429C>A - - WDR45_000054 - PubMed: Saitsu 2013 - - De novo - - - - normal allele inactivated in lymphoblastoid cell lines DNA, RNA RT-PCR, SEQ, SEQ-NG - WES NBIA subject 1 PubMed: Saitsu 2013 2-generation family, 1 affected, unaffected non-carrier parents F - Japan - - - - - 1 Johan den Dunnen
+/. - c.439+2T>G r.spl p.? Unknown - pathogenic (dominant) g.48934087A>C g.49076428A>C - - WDR45_000123 - PubMed: Rohani 2019 - - De novo - - - - - DNA SEQ - - NBIA Pat1 PubMed: Rohani 2019 3-generation family, 1 affected, unaffected non-carrier parents F yes Iran - - - - - 1 Johan den Dunnen
?/. - c.439+10C>T r.(=) p.(=) Unknown - VUS g.48934079G>A g.49076420G>A WDR45(NM_007075.3):c.439+10C>T - WDR45_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.439+18C>T r.(=) p.(=) Unknown - likely benign g.48934071G>A g.49076412G>A WDR45(NM_007075.3):c.439+18C>T - WDR45_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.440-2A>G r.spl p.? Unknown - pathogenic (dominant) g.48933606T>C g.49075947T>C - - WDR45_000079 - PubMed: Hoffjan 2016 - - De novo - - - - - DNA SEQ - - NBIA patient PubMed: Hoffjan 2016 2-generation family, 1 affected, unaffected non-carrier parents F - Argentina - - - - - 1 Johan den Dunnen
+/. - c.442_446del r.(?) p.(Leu148*) Maternal (confirmed) - pathogenic (dominant) g.48933599_48933603del g.49075940_49075944del 442_446delCTCTG - WDR45_000122 inherited from reportedly asymptomatic mother PubMed: Adang 2020 - - Germline - - - - - DNA SEQ - - NBIA Pat10 PubMed: Adang 2020 2-generation family, 1 affected, unaffected parents M - - - - - - - 1 Johan den Dunnen
+/. - c.447_448del r.(?) p.(Cys149*) Unknown - pathogenic (dominant) g.48933598_48933599del g.49075939_49075940del - - WDR45_000082 - PubMed: Araújo 2017 - - De novo - - - - - DNA SEQ - - NBIA twins PubMed: Araújo 2017 3-generation family, affected twin pair, unaffected non-carrier parents F - Portugal - - - - - 2 Johan den Dunnen
+/. - c.454del r.(?) p.(Cys152Alafs*9) Unknown - pathogenic (dominant) g.48933590del g.49075931del 454delT - WDR45_000094 - PubMed: Carvill 2018 - - De novo - - - - - DNA SEQ - - NBIA Pat5 PubMed: Carvill 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.466G>T r.(?) p.(Glu156Ter) Unknown - pathogenic g.48933578C>A g.49075919C>A WDR45(NM_007075.3):c.466G>T (p.E156*) - WDR45_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.476del r.(?) p.(Leu159Argfs*2) Unknown - pathogenic (dominant) g.48933568del g.49075909del - - WDR45_000053 - PubMed: Haack 2012 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NBIA 63703 PubMed: Haack 2012, PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected parents F - United States African American - - - - 1 Johan den Dunnen
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