Full data view for gene PITX3

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_005029.3 transcript reference sequence.

51 entries on 1 page. Showing entries 1 - 51.
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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.-13+8_-13+11del r.(=) p.(=) Unknown - likely benign g.104001081_104001084del g.102241324_102241327del PITX3(NM_005029.3):c.-13+8_-13+11del (p.(=)) - GBF1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.38G>A r.(?) p.(Ser13Asn) Unknown - likely pathogenic g.103991800C>T g.102232043C>T 94G>A - PITX3_000001 mapped by linkage; not in 600 control chromosomes; de novo in mother PubMed: Semina 1998 - - Germline yes - - - - DNA microsat, SEQ - - CCTRCT - PubMed: Semina 1998 2-generation family, affected mother/son F;M no United States - - - - - 2 Deepti Anand
+?/. 2 c.38G>A r.(?) p.(Ser13Asn) Unknown - likely pathogenic g.103991800C>T g.102232043C>T - - PITX3_000001 - - - - Germline yes - - - - DNA PCR - - CTCRT11;CTPP4 - - - M ? France - - - - - 2 Celia Zazo-Seco
?/. - c.269G>C r.(?) p.(Ser90Thr) Unknown - VUS g.103991397C>G - PITX3(NM_005029.4):c.269G>C (p.(Ser90Thr)) - ELOVL3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.285C>T r.(?) p.(Ile95=) Unknown - benign g.103991381G>A g.102231624G>A PITX3(NM_005029.4):c.285C>T (p.I95=) - PITX3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.285C>T r.(?) p.(Ile95=) Both (homozygous) - likely benign g.103991381G>A g.102231624G>A - - PITX3_000010 - PubMed: Li 2019 - rs2281983 Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam2PatII1 PubMed: Li 2019 2-generation family, affected mother/2 daughters F - China - - - - - 3 Johan den Dunnen
-?/. - c.285C>T r.(?) p.(Ile95=) Both (homozygous) - likely benign g.103991381G>A g.102231624G>A - - PITX3_000010 - PubMed: Li 2019 - rs2281983 Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam3PatIV1 PubMed: Li 2019 4-generation family, 5 affected (5F) F - China - - - - - 5 Johan den Dunnen
-?/. - c.285C>T r.(?) p.(Ile95=) Both (homozygous) - likely benign g.103991381G>A g.102231624G>A - - PITX3_000010 - PubMed: Li 2019 - rs2281983 Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam4PatIV1 PubMed: Li 2019 4-generation family, 4 affected (2F, 2M) F - China - - - - - 4 Johan den Dunnen
?/. - c.431A>G r.(?) p.(Tyr144Cys) Unknown - VUS g.103990749T>C - PITX3(NM_005029.3):c.431A>G (p.Y144C) - PITX3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.487C>A r.(?) p.(Pro163Thr) Unknown - VUS g.103990693G>T - PITX3(NM_005029.4):c.487C>A (p.(Pro163Thr)) - ELOVL3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.542del r.(?) p.(Pro181Leufs*128) Unknown - likely pathogenic g.103990639del g.102230882del - - PITX3_000006 - PubMed: Berry 2011 - - Germline - - - - - DNA, protein arraySNP - - CTRCT - PubMed: Berry 2011 - - - - English - - - - 9 Deepti Anand
+/. 4 c.573del r.(?) p.(Ser192Alafs*117) Paternal (confirmed) - pathogenic g.103990609del g.102230852del 573delC - PITX3_000005 - PubMed: Verdin 2014, Journal: Verdin 2014 - - Germline yes - - - - DNA, protein SEQ - - CCTRCT - PubMed: Verdin 2014, Journal: Verdin 2014 3-generation family, 3 affecteds (F, 2M) F;M - Belgium Belgina-Romanian - - - - 3 Deepti Anand
+/. 4 c.573del r.(?) p.Ser192Alafs*117 Unknown - NA g.103990609del g.102230852del - - PITX3_000005 IHC shows retained nuclear localization; pcDNA3.1 in vitro expression cloning in B3 cells shows decreased DNA-binding, luciferase assay in lens epithelial cells shows reduced (0.17) transactivation activity PubMed: Verdin 2014, Journal: Verdin 2014 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.578C>G r.(?) p.(Ser193Cys) Unknown - VUS g.103990602G>C g.102230845G>C - - PITX3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.582del r.(?) p.(Ile194Metfs*115) Unknown - likely pathogenic g.103990598del g.102230841del - - PITX3_000007 - - - - De novo yes - - - - DNA PCR - - CTCRT11;CTPP4 - - - M - England - - - - - 1 Celia Zazo-Seco
?/. - c.640_656del r.(?) p.(Ala214ArgfsTer42) Unknown - VUS g.103990535_103990551del - PITX3(NM_005029.3):c.640_656delGCCCTGCAGGGCCTGGG (p.(Ala214fs)), PITX3(NM_005029.4):c.640_656delGCCCTGCAGGGCCTGGG (p.A214Rfs*42) - PITX3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.640_656del r.(?) p.(Ala214Argfs*42) Both (homozygous) - pathogenic (recessive) g.103990535_103990551del g.102230778_102230794del - - PITX3_000003 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F30‐M PubMed: Patel 2017 family - yes Saudi Arabia - - - - - 1 LOVD
+/. - c.640_656del r.(?) p.(Ala214ArgfsTer42) Unknown ACMG pathogenic g.103990535_103990551del g.102230778_102230794del PITX3 c.640_656del p.(Ala214ArgfsTer42) het - PITX3_000003 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 114 genes panel tested retinal disease 15021966 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.640_656del r.(?) p.(Ala214ArgfsTer42) Paternal (confirmed) - likely pathogenic (dominant) g.103990535_103990551del g.102230778_102230794del 640_656delGCCCTGCAGGGCCTGGG - PITX3_000003 - PubMed: Fernandez-Alcalde 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam28 PubMed: Fernandez-Alcalde 2021 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.640_656del r.(?) p.(Ala214Argfs*42) Both (homozygous) - pathogenic (recessive) g.103990535_103990551del g.102230778_102230794del - - PITX3_000003 - PubMed: Aldahmesh 2011 - - Germline yes - - - - DNA arraySNP, SEQ - - ? Fam1 PubMed: Aldahmesh 2011 4-generation family, 2 affected (F, M) F;M yes Saudi Arabia - - - - - 2 Johan den Dunnen
?/. - c.640_656del r.(?) p.(Ala214ArgfsTer42) Unknown - VUS g.103990535_103990551del - PITX3(NM_005029.3):c.640_656delGCCCTGCAGGGCCTGGG (p.(Ala214fs)), PITX3(NM_005029.4):c.640_656delGCCCTGCAGGGCCTGGG (p.A214Rfs*42) - PITX3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.640_656dup r.(?) p.(Gly220Profs*95) Parent #1 - pathogenic g.103990535_103990551dup g.102230778_102230794dup - - PITX3_000002 not in 300 control chromosomes PubMed: Semina 1998 - - Germline yes - - - - DNA microsat, SEQ, SSCA - - CCTRCT - PubMed: Semina 1998 3-generation family, 6 affecteds (3F, 3M) F;M no United States - - - - - 6 Deepti Anand
+?/. 4 c.640_656dup r.(?) p.(Gly220Profs*95) Unknown - likely pathogenic g.103990535_103990551dup g.102230778_102230794dup 657–673dup17 - PITX3_000002 - PubMed: Berry 2004 - - Germline yes - - - - DNA, protein arraySNP - - CTRCT - PubMed: Berry 2004 family, 10 affected individuals - - - English - - - - 10 Deepti Anand
+?/. 4 c.640_656dup r.(?) p.(Gly220Profs*95) Unknown - likely pathogenic g.103990535_103990551dup g.102230778_102230794dup 657–673dup17 - PITX3_000002 - PubMed: Berry 2004 - - Germline yes - - - - DNA, protein arraySNP - - CTRCT - PubMed: Berry 2004 family, 11 affected individuals - - - English - - - - 11 Deepti Anand
+?/. 4 c.640_656dup r.(?) p.(Gly220Profs*95) Unknown - likely pathogenic g.103990535_103990551dup g.102230778_102230794dup 657–673dup17 - PITX3_000002 - PubMed: Berry 2004 - - Germline yes - - - - DNA, protein arraySNP - - CTRCT - PubMed: Berry 2004 family, 17 affected individuals - - - English - - - - 17 Deepti Anand
+?/. 4 c.640_656dup r.(?) p.(Gly220Profs*95) Unknown - likely pathogenic g.103990535_103990551dup g.102230778_102230794dup 657–673dup17 - PITX3_000002 - PubMed: Berry 2004 - - Germline yes - - - - DNA, protein arraySNP - - CTRCT - PubMed: Berry 2004 family, 12 affected individuals - - China - - - - - 12 Deepti Anand
+?/. 4 c.640_656dup r.(?) p.(Gly220Profs*95) Unknown - likely pathogenic g.103990535_103990551dup g.102230778_102230794dup - - PITX3_000002 - PubMed: Finzi 2005 - - Germline yes - - - - DNA, protein arraySNP - - CTRCT - PubMed: Finzi 2005 - - - - English - - - - 20 Deepti Anand
+?/. 4 c.640_656dup r.(?) p.(Gly220Profs*95) Unknown - likely pathogenic g.103990535_103990551dup g.102230778_102230794dup 657ins17 - PITX3_000002 - PubMed: Burdon 2006 - - Germline yes - - - - DNA, protein arraySNP - - CTRCT - PubMed: Burdon 2006 family, 33 affected individuals - - - - - - - - 33 Deepti Anand
+?/. 4 c.640_656dup r.(?) p.(Gly220Profs*95) Unknown - likely pathogenic g.103990535_103990551dup g.102230778_102230794dup 657ins17 - PITX3_000002 - PubMed: Summers 2008 - - Germline yes - - - - DNA, protein arraySNP - - CTRCT - PubMed: Summers 2008 family, 7 affected individuals - - Australia - - - - - 7 Deepti Anand
+?/. 4 c.640_656dup r.(?) p.(Gly220Profs*95) Unknown - likely pathogenic g.103990535_103990551dup g.102230778_102230794dup 657ins17 - PITX3_000002 - PubMed: Summers 2008 - - Germline yes - - - - DNA, protein arraySNP - - CTRCT - PubMed: Summers 2008 family, 7 affected individuals - - Australia - - - - - 7 Deepti Anand
+?/. 4 c.640_656dup r.(?) p.(Gly220Profs*95) Parent #1 - pathogenic g.103990535_103990551dup g.102230778_102230794dup - - PITX3_000002 - PubMed: Verdin 2014, Journal: Verdin 2014 - - Germline yes - - - - DNA, protein SEQ - - CTRCT - PubMed: Aldahmesh 2011 - - - - - - - - - 2 Deepti Anand
+/. 4 c.640_656dup r.(?) p.(Gly220Profs*95) Parent #1 - pathogenic g.103990535_103990551dup g.102230778_102230794dup - - PITX3_000002 - PubMed: Verdin 2014, Journal: Verdin 2014 - - Germline yes - - - - DNA, protein SEQ - - CCTRCT - PubMed: Verdin 2014, Journal: Verdin 2014 3-generation family, 4 affecteds (2F, 2M), grandmother, son, grandaugther/son F;M no Belgium - - - - - 4 Deepti Anand
+/. 4 c.640_656dup r.(?) p.(Gly220Profs*95) Parent #1 - pathogenic g.103990535_103990551dup g.102230778_102230794dup - - PITX3_000002 - PubMed: Verdin 2014, Journal: Verdin 2014 - - Germline yes - - - - DNA, protein SEQ - - CCTRCT - PubMed: Verdin 2014, Journal: Verdin 2014 3-generation family, 6 affecteds (4F, 2M) F;M no Belgium - - - - - 6 Deepti Anand
+/. 4 c.640_656dup r.(?) p.(Gly220Profs*95) Parent #1 - likely pathogenic g.103990535_103990551dup g.102230778_102230794dup - - PITX3_000002 - PubMed: Verdin 2014, Journal: Verdin 2014 - - Germline yes - - - - DNA, protein SEQ - - CCTRCT - PubMed: Verdin 2014, Journal: Verdin 2014 4-generation family, 9 affecteds (5F, 4M) F;M no Belgium - - - - - 9 Deepti Anand
+/. 4 c.640_656dup r.(?) p.(Gly220Profs*95) Parent #1 - pathogenic g.103990535_103990551dup g.102230778_102230794dup - - PITX3_000002 - PubMed: Verdin 2014, Journal: Verdin 2014 - - Germline yes - - - - DNA, protein SEQ - - CCTRCT - PubMed: Verdin 2014, Journal: Verdin 2014 3-generation family, 6 affecteds (2F, 4M) F;M no Belgium - - - - - 6 Deepti Anand
+/. 4 c.640_656dup r.(?) p.Gly220Profs*95 Unknown - NA g.103990535_103990551dup g.102230778_102230794dup - - PITX3_000002 IHC shows retained nuclear localization; pcDNA3.1 in vitro expression cloning in B3 cells shows decreased DNA-binding, luciferase assay in lens epithelial cells shows reduced (0.32) transactivation activity PubMed: Verdin 2014, Journal: Verdin 2014 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.640_656dup r.(?) p.(Gly220Profs*95) Unknown - likely pathogenic g.103990535_103990551dup g.102230778_102230794dup - - PITX3_000002 - - - - Germline yes - - - - DNA PCR - - CTCRT11;CTPP4 - - - M no France - - - - - 5 Celia Zazo-Seco
+?/. 4 c.640_656dup r.(?) p.(Gly220Profs*95) Unknown - likely pathogenic g.103990535_103990551dup g.102230778_102230794dup - - PITX3_000002 - - - - Germline - - - - - DNA PCR - - CTCRT11;CTPP4 - - - M - France - - - - - 2 Celia Zazo-Seco
+/. - c.640_656dup r.(?) p.(Gly220ProfsTer95) Unknown ACMG pathogenic g.103990535_103990551dup g.102230778_102230794dup PITX3 c.640_656dup p.(Gly220ProfsTer95) het - PITX3_000002 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 144 genes panel tested retinal disease 17015905 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.640_656dup r.(?) p.(Gly220ProfsTer95) Unknown - pathogenic (dominant) g.103990535_103990551dup g.102230778_102230794dup 656_657insGCCCTGCAGGGCCTGGG - PITX3_000002 - PubMed: Zhang 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT WCC13PatIII1 PubMed: Zhang 2018 3-generation family, 6 affected (2F, 4M) M - China - - - - - 6 Johan den Dunnen
+?/. 4 c.650del r.(?) p.(Gly217Alafs*92) Unknown - likely pathogenic g.103990532del g.102230775del 650delG (p.Gly217AlafsX91) - PITX3_000004 - PubMed: Berry 2004 - - Germline yes - - - - DNA, protein arraySNP - - CTRCT - PubMed: Berry 2004 family, 6 affected individuals - - - Hispanic - - - - 6 Deepti Anand
+?/. 4 c.650del r.(?) p.(Gly217Alafs*92) Unknown - likely pathogenic g.103990532del g.102230775del 650delG (p.Gly217AlafsX91) - PITX3_000004 - PubMed: Bidinost 2006 - - Germline yes - - - - DNA, protein arraySNP - - CTRCT - PubMed: Bidinost 2006 family, 32 affected individuals - - Lebanon - - - - - 32 Deepti Anand
?/. - c.650G>A r.(?) p.(Gly217Asp) Unknown - VUS g.103990530C>T g.102230773C>T PITX3(NM_005029.3):c.650G>A (p.G217D) - PITX3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.661G>A r.(?) p.(Gly221Ser) Unknown - likely benign g.103990519C>T g.102230762C>T PITX3(NM_005029.3):c.661G>A (p.G221S) - PITX3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.669del r.(?) p.(Leu225Trpfs*84) Unknown - likely pathogenic g.103990517del g.102230760del - - PITX3_000008 - - - - Germline yes - - - - DNA PCR - - CTCRT11;CTPP4 - - - F - Iraq - - - - - 2 Celia Zazo-Seco
-?/. - c.699G>A r.(?) p.(Gly233=) Unknown - likely benign g.103990481C>T - PITX3(NM_005029.3):c.699G>A (p.G233=) - PITX3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.738_740dup r.(?) p.(Ala250dup) Unknown - VUS g.103990454_103990456dup - PITX3(NM_005029.3):c.738_740dupCGC (p.(Ala247dup)) - ELOVL3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.785C>A r.(?) p.(Ser262Ter) Unknown - pathogenic (dominant) g.103990395G>T g.102230638G>T - - PITX3_000012 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam23139 PubMed: Jackson 2020 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+?/. - c.797_814del r.(?) p.(Ser266_Ala271del) Paternal (confirmed) - likely pathogenic (dominant) g.103990370_103990387del g.102230613_102230630del - - PITX3_000026 - PubMed: Liu 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam113Pat302 PubMed: Liu 2023 2-generation family, affected father/daughter F - China - - - - - 2 Johan den Dunnen
+?/. - c.797_814del r.(?) p.(Ser266_Ala271del) Unknown - likely pathogenic (dominant) g.103990370_103990387del g.102230613_102230630del - - PITX3_000026 - PubMed: Liu 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam113Pat303 PubMed: Liu 2023 father M - China - - - - - 1 Johan den Dunnen
?/. - c.*2860A>G r.(=) p.(=) Unknown - VUS g.103987411T>C g.102227654T>C ELOVL3(NM_152310.1):c.130T>C (p.(Tyr44His)) - ELOVL3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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