Full data view for gene FOXE3

Information The variants shown are described using the NM_012186.2 transcript reference sequence.

221 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.5C>T r.(?) p.(Ala2Val) Unknown - VUS g.47881992C>T - FOXE3(NM_012186.2):c.5C>T (p.A2V) - FOXE3_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.16G>A r.(?) p.(Asp6Asn) Parent #1 - benign g.47882003G>A g.47416331G>A - - FOXE3_000021 5/158 African American controls PubMed: Reis 2010, Journal: Reis 2010 - - Germline - 5/682 controls - - - DNA SEQ, SEQ-NG - - - - PubMed: Reis 2010, Journal: Reis 2010 682 controls - - - - - - - - 5 Johan den Dunnen
-/. - c.16G>A r.(?) p.(Asp6Asn) Unknown - benign g.47882003G>A - FOXE3(NM_012186.3):c.16G>A (p.D6N) - FOXE3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.16G>A r.(?) p.(Asp6Asn) Unknown - benign g.47882003G>A - FOXE3(NM_012186.3):c.16G>A (p.D6N) - FOXE3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.21_24del r.(?) p.(Met7Ilefs*216) Unknown - pathogenic g.47882008_47882011del g.47416336_47416339del - - FOXE3_000001 - - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 3 Daniel Kelberman
+?/. 1 c.21_24del r.(?) p.(Met7Ilefs*216) Both (homozygous) - likely pathogenic g.47882008_47882011del g.47416336_47416339del - - FOXE3_000001 - PubMed: Iseri 2009, Journal: Iseri 2009 - - Germline - - - - - DNA SEQ - - ASGD2 - PubMed: Iseri 2009, Journal: Iseri 2009 4-generation family, 3 affecteds (F, 2M), unaffected hetereozygous carrier parents F;M yes Pakistan - - - - - 3 Deepti Anand
+/. 1 c.21_24del r.(?) p.(Met7Ilefs*216) Both (homozygous) - pathogenic g.47882008_47882011del g.47416336_47416339del 21_24delGGAT - FOXE3_000001 - PubMed: Ullah 2016 - - Germline yes - - - - DNA SEQ - - ASGD2 FamMA119 PubMed: Ullah 2016 6-generation family, 4 affecteds (2F, 2M), unaffected heterozygous carrier parents F;M yes Pakistan - - - - - 4 Johan den Dunnen
+/. - c.21_24del r.(21_24del) p.(Met7Ilefs*216) Both (homozygous) - pathogenic (recessive) g.47882008_47882011del g.47416336_47416339del - - FOXE3_000001 - PubMed: Islam 2015 - - Germline - - - - - DNA SEQ - - ASGD2 Pat2 PubMed: Islam 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents - yes United Kingdom (Great Britain) India - - - - 1 Johan den Dunnen
+/. - c.21_24del r.(?) p.(Met7Ilefs*216) Both (homozygous) - pathogenic (recessive) g.47882008_47882011del g.47416336_47416339del 21_24delGGAT - FOXE3_000001 - PubMed: Ullah 2016 - - Germline yes - - - - DNA SEQ - - ASGD2 FamMA115 PubMed: Ullah 2016 6-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 2 Johan den Dunnen
+/. - c.21_24del r.(?) p.(Met7IlefsTer216) Both (homozygous) ACMG pathogenic (recessive) g.47882008_47882011del g.47416336_47416339del - - FOXE3_000001 ACMG VS1, PS1, PM2, PM3 PubMed: Reis 2021 - - Germline - - - - - DNA SEQ - - ? Fam1 PubMed: Reis 2021 family, 1 affected M - India Asia-S - - - - 1 Johan den Dunnen
+/. - c.21_24del r.(?) p.(Met7IlefsTer216) Both (homozygous) ACMG pathogenic (recessive) g.47882008_47882011del g.47416336_47416339del - - FOXE3_000001 ACMG VS1, PS1, PM2, PM3 PubMed: Reis 2021 - - Germline - - - - - DNA SEQ - - ? Fam2PatA PubMed: Reis 2021 family, 3 affected M yes Pakistan Asia-S - - - - 3 Johan den Dunnen
+/. - c.21_24del r.(?) p.(Met7IlefsTer216) Both (homozygous) ACMG pathogenic (recessive) g.47882008_47882011del g.47416336_47416339del - - FOXE3_000001 ACMG VS1, PS1, PM2, PM3 PubMed: Reis 2021 - - Germline - - - - - DNA SEQ - - ? Fam2PatB PubMed: Reis 2021 sib M yes Pakistan Asia-S - - - - 1 Johan den Dunnen
+/. - c.21_24del r.(?) p.(Met7IlefsTer216) Both (homozygous) ACMG pathogenic (recessive) g.47882008_47882011del g.47416336_47416339del - - FOXE3_000001 ACMG VS1, PS1, PM2, PM3 PubMed: Reis 2021 - - Germline - - - - - DNA SEQ - - ? Fam2PatC PubMed: Reis 2021 paternal cousin M yes Pakistan Asia-S - - - - 1 Johan den Dunnen
+/. - c.21_24del r,(?) p.(Met7IlefsTer216) Both (homozygous) - pathogenic (recessive) g.47882008_47882011del g.47416336_47416339del 21_24delGGAT - FOXE3_000001 - PubMed: Ernst 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - 59-gene panel ? Pat1 PubMed: Ernst 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes India - - - - - 1 Johan den Dunnen
?/. - c.37T>G r.(?) p.(Phe13Val) Unknown - VUS g.47882024T>G g.47416352T>G FOXE3(NM_012186.3):c.37T>G (p.F13V) - FOXE3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.51T>C r.(?) p.(=) Unknown - likely benign g.47882038T>C - FOXE3(NM_012186.3):c.51T>C (p.P17=) - FOXE3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.91C>T r.(?) p.(Pro31Ser) Unknown - VUS g.47882078C>T - FOXE3(NM_012186.2):c.91C>T (p.(Pro31Ser)) - FOXE3_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.106G>T r.(?) p.(Glu36Ter) Both (homozygous) - pathogenic (recessive) g.47882093G>T g.47416421G>T - - FOXE3_000087 - PubMed: Akbar 2024 - - Germline yes - - - - DNA SEQ - - MCOP FamPatIV9 PubMed: Akbar 2024 4-generation family, 6 affected (3F, 3M), , unaffected heterozygous carrier parents/relatives M - Pakistan - - - - - 6 Johan den Dunnen
+/. - c.106G>T r.(?) p.(Glu36Ter) Both (homozygous) - pathogenic (recessive) g.47882093G>T g.47416421G>T - - FOXE3_000087 - PubMed: Akbar 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES MCOP FamPatIV11 PubMed: Akbar 2024 sister F - Pakistan - - - - - 1 Johan den Dunnen
+/. - c.106G>T r.(?) p.(Glu36Ter) Both (homozygous) - pathogenic (recessive) g.47882093G>T g.47416421G>T - - FOXE3_000087 - PubMed: Akbar 2024 - - Germline yes - - - - DNA SEQ - - MCOP FamPatIV12 PubMed: Akbar 2024 sister F - Pakistan - - - - - 1 Johan den Dunnen
+/. - c.106G>T r.(?) p.(Glu36Ter) Both (homozygous) - pathogenic (recessive) g.47882093G>T g.47416421G>T - - FOXE3_000087 - PubMed: Akbar 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES MCOP, SPG FamPatIV14 PubMed: Akbar 2024 brother M - Pakistan - - - - - 1 Johan den Dunnen
+/. - c.106G>T r.(?) p.(Glu36Ter) Both (homozygous) - pathogenic (recessive) g.47882093G>T g.47416421G>T - - FOXE3_000087 - PubMed: Akbar 2024 - - Germline yes - - - - DNA SEQ - - MCOP FamPatIV15 PubMed: Akbar 2024 sister F - Pakistan - - - - - 1 Johan den Dunnen
+/. - c.106G>T r.(?) p.(Glu36Ter) Both (homozygous) - pathogenic (recessive) g.47882093G>T g.47416421G>T - - FOXE3_000087 - PubMed: Akbar 2024 - - Germline yes - - - - DNA SEQ - - MCOP FamPatIV2 PubMed: Akbar 2024 cousin M - Pakistan - - - - - 1 Johan den Dunnen
-?/. - c.127G>A r.(?) p.(Glu43Lys) Unknown - likely benign g.47882114G>A g.47416442G>A FOXE3(NM_012186.2):c.127G>A (p.E43K) - FOXE3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.135G>A r.(?) p.(Ala45=) Parent #1 - benign g.47882122G>A g.47416450G>A - - FOXE3_000022 1/110 Asian controls PubMed: Reis 2010, Journal: Reis 2010 - - Germline - 1/682 controls - - - DNA SEQ, SEQ-NG - - - - PubMed: Reis 2010, Journal: Reis 2010 682 controls - - - - - - - - 1 Johan den Dunnen
-?/. - c.135G>A r.(?) p.(Ala45=) Unknown - likely benign g.47882122G>A - FOXE3(NM_012186.2):c.135G>A (p.A45=) - FOXE3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.146G>C r.(?) p.(Gly49Ala) Parent #1 - likely pathogenic g.47882133G>C g.47416461G>C - - FOXE3_000009 - PubMed: Iseri 2009, Journal: Iseri 2009 - - Germline - - - - - DNA SEQ - - CTRCT - PubMed: Iseri 2009, Journal: Iseri 2009 2-generation family, 4 affecteds (3F, M) F;M - Pakistan - - - - - 4 Deepti Anand
-?/. 1 c.146G>C r.(?) p.(Gly49Ala) Parent #1 - likely benign g.47882133G>C g.47416461G>C - - FOXE3_000009 - PubMed: Reis 2010, Journal: Reis 2010 - - Germline - 4/682 controls - - - DNA SEQ, SEQ-NG - - - - PubMed: Reis 2010, Journal: Reis 2010 682 controls - - - - - - - - 4 Johan den Dunnen
+/. - c.148_170dup r.(?) p.(Gly58ArgfsTer174) Both (homozygous) ACMG pathogenic (recessive) g.47882135_47882157dup g.47416463_47416485dup - - FOXE3_000088 ACMG PVS1, PM2, PM3, PP4 PubMed: Reis 2021 - - Germline - - - - - DNA SEQ - - ? Fam3 PubMed: Reis 2021 family, 1 affected M - India Asia-S - - - - 1 Johan den Dunnen
+/. - c.148_170dup r,(?) p.(Gly58ArgfsTer174) Both (homozygous) - pathogenic (recessive) g.47882135_47882157dup g.47416463_47416485dup dup (Gly58 Argfs*174) - FOXE3_000088 - PubMed: Ernst 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - 59-gene panel ? Pat7 PubMed: Ernst 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes India - - - - - 1 Johan den Dunnen
?/. - c.158C>T r.(?) p.(Pro53Leu) Unknown - VUS g.47882145C>T g.47416473C>T FOXE3(NM_012186.2):c.158C>T (p.P53L), FOXE3(NM_012186.3):c.158C>T (p.P53L) - FOXE3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.158C>T r.(?) p.(Pro53Leu) Unknown - benign g.47882145C>T - FOXE3(NM_012186.2):c.158C>T (p.P53L), FOXE3(NM_012186.3):c.158C>T (p.P53L) - FOXE3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.159C>T r.(?) p.(Pro53=) Parent #1 - benign g.47882145C>T - 158C>T (P53P) - FOXE3_000023 3/110 Asian controls Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Reis 2010, Journal: Reis 2010 - - Germline - 3/682 controls - - - DNA SEQ, SEQ-NG - - - - PubMed: Reis 2010, Journal: Reis 2010 682 controls - - - - - - - - 3 Johan den Dunnen
+?/. - c.159_199del r.(?) p.(Thr54AlafsTer217) Unknown - VUS g.47882146_47882186del g.47416474_47416514del - - FOXE3_000075 - PubMed: Mansoorshahi 2024 - rs1216242726 Germline - - - - - DNA SEQ, SEQ-NG - WES CHD BAV162 PubMed: Mansoorshahi 2024 analysis 215 early-onset complications bicuspid aortic valve-affected families. - - United States - - - - - 1 Johan den Dunnen
-?/. - c.161C>T r.(?) p.(Thr54Met) Unknown - likely benign g.47882148C>T - FOXE3(NM_012186.2):c.161C>T (p.T54M) - FOXE3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.163C>A r.(?) p.(Pro55Thr) Unknown - likely benign g.47882150C>A - FOXE3(NM_012186.2):c.163C>A (p.P55T) - FOXE3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.174C>T r.(?) p.(Gly58=) Unknown - likely benign g.47882161C>T - FOXE3(NM_012186.2):c.174C>T (p.G58=) - FOXE3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.181del r,(?) p.(Arg61GlyfsTer163) Both (homozygous) - pathogenic (recessive) g.47882168del g.47416496del - - FOXE3_000089 - PubMed: Ernst 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - 59-gene panel ? Pat14 PubMed: Ernst 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes United States Europe - - - - 1 Johan den Dunnen
?/. - c.194G>T r.(?) p.(Arg65Leu) Unknown - VUS g.47882181G>T g.47416509G>T - - FOXE3_000038 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - (Germany) - - - - - 1 IMGAG
+/. - c.194_196del r.(?) p.(Arg65del) Unknown - pathogenic (dominant) g.47882181_47882183del g.47416509_47416511del 179_181del - FOXE3_000065 - PubMed: Zhang 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT WCC9PatII1 PubMed: Zhang 2018 2-generation family, 1 affected M - China - - - - - 1 Johan den Dunnen
-?/. - c.225G>T r.(?) p.(Ser75=) Unknown - likely benign g.47882212G>T g.47416540G>T FOXE3(NM_012186.2):c.225G>T (p.S75=) - FOXE3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.232G>A r.(?) p.(Ala78Thr) Unknown - VUS g.47882219G>A - FOXE3(NM_012186.2):c.232G>A (p.(Ala78Thr)) - FOXE3_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.232G>A r.(?) p.(Ala78Thr) Both (homozygous) - pathogenic (recessive) g.47882219G>A g.47416547G>A - - FOXE3_000073 - PubMed: Plaisancie 2018 - - Germline yes - - - - DNA SEQ - - MCOP Fam2 PubMed: Plaisancie 2018 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F;M - France - - - - - 2 Johan den Dunnen
+/. - c.232G>A r.(?) p.(Ala78Thr) Maternal (confirmed) - pathogenic (recessive) g.47882219G>A g.47416547G>A - - FOXE3_000073 - PubMed: Plaisancie 2018 - - Germline - - - - - DNA SEQ - - MCOP Pat2 PubMed: Plaisancie 2018 patient - - France - - - - - 1 Johan den Dunnen
+/. - c.232G>A r.(?) p.(Ala78Thr) Parent #1 ACMG pathogenic (recessive) g.47882219G>A g.47416547G>A - - FOXE3_000073 ACMG PS1, PM1, PM2, PP2, PP3, PP4 PubMed: Reis 2021 - - Germline - - - - - DNA SEQ - - ? Fam4 PubMed: Reis 2021 family, 1 affected F - - white;Asia - - - - 1 Johan den Dunnen
+/. - c.232G>A r.(?) p.(Ala78Thr) Parent #1 ACMG pathogenic (recessive) g.47882219G>A g.47416547G>A - - FOXE3_000073 ACMG PS1, PM1, PM2, PP2, PP3, PP4 PubMed: Reis 2021 - - Germline - - - - - DNA SEQ - - ? Fam5 PubMed: Reis 2021 family, 1 affected M - Netherlands - - - - - 1 Johan den Dunnen
-/. - c.234G>A r.(?) p.(Ala78=) Unknown - benign g.47882221G>A g.47416549G>A FOXE3(NM_012186.2):c.234G>A (p.A78=), FOXE3(NM_012186.3):c.234G>A (p.A78=) - FOXE3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.234G>A r.(?) p.(Ala78=) Unknown - benign g.47882221G>A g.47416549G>A FOXE3(NM_012186.2):c.234G>A (p.A78=), FOXE3(NM_012186.3):c.234G>A (p.A78=) - FOXE3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.234G>A r.(?) p.(Ala78=) Unknown - benign g.47882221G>A - FOXE3(NM_012186.2):c.234G>A (p.A78=), FOXE3(NM_012186.3):c.234G>A (p.A78=) - FOXE3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.240C>T r.(?) p.(Ile80=) Unknown - likely benign g.47882227C>T g.47416555C>T FOXE3(NM_012186.2):c.240C>T (p.I80=), FOXE3(NM_012186.3):c.240C>T (p.I80=) - FOXE3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.240C>T r.(?) p.(Ile80=) Unknown - likely benign g.47882227C>T - FOXE3(NM_012186.2):c.240C>T (p.I80=), FOXE3(NM_012186.3):c.240C>T (p.I80=) - FOXE3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.240C>T r.(?) p.(Ile80=) Unknown - likely benign g.47882227C>T - FOXE3(NM_012186.2):c.240C>T (p.I80=), FOXE3(NM_012186.3):c.240C>T (p.I80=) - FOXE3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.244A>G r.(?) p.(Met82Val) Both (homozygous) - likely pathogenic g.47882231A>G g.47416559A>G - - FOXE3_000010 - PubMed: Iseri 2009, Journal: Iseri 2009 - - Germline - - - - - DNA SEQ - - ASGD2 - PubMed: Iseri 2009, Journal: Iseri 2009 7-generation family, 6 affecteds (F, 5M), unaffected hetereozygous carrier parents F;M yes Pakistan - - - - - 6 Deepti Anand
+?/. 1 c.244A>G r.(?) p.(Met82Val) Parent #1 - likely pathogenic g.47882231A>G g.47416559A>G - - FOXE3_000010 - PubMed: Reis 2010, Journal: Reis 2010 - - Germline - - - - - DNA SEQ - - MCOP - PubMed: Reis 2010, Journal: Reis 2010 - - no - white - - - - 1 Deepti Anand
+?/. - c.244A>G r.(?) p.(Met82Val) Unknown - likely pathogenic g.47882231A>G g.47416559A>G c.244A>G, p.(Met82Val) - FOXE3_000010 heterozygous PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood panel of 126 genes ? 13860 PubMed: Wang 2019 - F - China - - - - - 1 LOVD
+/. - c.244A>G r.(?) p.(Met82Val) Both (homozygous) ACMG pathogenic (recessive) g.47882231A>G - - - FOXE3_000010 ACMG: PS4, PM3, PP1_MOD, PM2_SUP, PP3; sister also affected, co-segregation. PMID: 19708017, 29136273, 29314435 VCV000667373.16 - Germline yes - - - - DNA SEQ-NG-I - - ASGD1 198801 - - F yes Saudi Arabia - - - - - 1 Andreas Laner
+/. - c.244A>G r.(?) p.(Met82Val) Unknown - pathogenic g.47882231A>G g.47416559A>G - - FOXE3_000010 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
+/. - c.244A>G r.(?) p.(Met82Val) Paternal (confirmed) - pathogenic (recessive) g.47882231A>G g.47416559A>G - - FOXE3_000010 - PubMed: Plaisancie 2018 - - Germline - - - - - DNA SEQ - - MCOP Pat1 PubMed: Plaisancie 2018 patient - - France - - - - - 1 Johan den Dunnen
+/. - c.244A>G r.(?) p.(Met82Val) Both (homozygous) - pathogenic (recessive) g.47882231A>G g.47416559A>G - - FOXE3_000010 - PubMed: Plaisancie 2018 - - Germline yes - - - - DNA SEQ - - MCOP Fam1 PubMed: Plaisancie 2018 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F;M - France - - - - - 2 Johan den Dunnen
+?/. - c.244A>G r.(?) p.(Met82Val) Maternal (confirmed) - likely pathogenic (recessive) g.47882231A>G g.47416559A>G - - FOXE3_000010 - PubMed: Quiroz-Casian 2018 - - Germline - - - - - DNA SEQ - - MCOP Pat2 PubMed: Quiroz-Casian 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Mexico - - - - - 1 Johan den Dunnen
?/. - c.244A>G r.(?) p.(Met82Val) Paternal (confirmed) ACMG VUS g.47882231A>G g.47416559A>G - - FOXE3_000010 ACMG PM1_P, PM2_P, PP5_P, PP3_M; no variant 2nd chromosome; unaffected carrier father PubMed: Lecca 2024 667373 - Germline - - - - - DNA SEQ, SEQ-NG - WES SPG FamEEPat40 PubMed: Lecca 2024 5-generation family, 3 affected (2F, M) F - Italy - - - - - 1 Johan den Dunnen
+/. - c.244A>G r.(?) p.(Met82Val) Both (homozygous) ACMG pathogenic (recessive) g.47882231A>G g.47416559A>G - - FOXE3_000010 ACMG PS1, PM1, PM2, PM3, PP2, PP3 PubMed: Reis 2021 - - Germline - - - - - DNA SEQ - - ? Fam6 PubMed: Reis 2021 family, 1 affected M - India Asia-S - - - - 1 Johan den Dunnen
+/. - c.244A>G r.(?) p.(Met82Val) Parent #1 ACMG pathogenic (recessive) g.47882231A>G g.47416559A>G - - FOXE3_000010 ACMG PS1, PM1, PM2, PM3, PP2, PP3 PubMed: Reis 2021 - - Germline - - - - - DNA SEQ - - ? Fam7PatA PubMed: Reis 2021 family, 2 affected F - Czech Republic white - - - - 2 Johan den Dunnen
+/. - c.244A>G r.(?) p.(Met82Val) Parent #1 ACMG pathogenic (recessive) g.47882231A>G g.47416559A>G - - FOXE3_000010 ACMG PS1, PM1, PM2, PM3, PP2, PP3 PubMed: Reis 2021 - - Germline - - - - - DNA SEQ - - ? Fam7PatB PubMed: Reis 2021 sib F - Czech Republic white - - - - 1 Johan den Dunnen
+/. - c.244A>G r.(?) p.(Met82Val) Parent #2 ACMG pathogenic (recessive) g.47882231A>G g.47416559A>G - - FOXE3_000010 ACMG PS1, PM1, PM2, PM3, PP2, PP3 PubMed: Reis 2021 - - Germline - - - - - DNA SEQ - - ? Fam5 PubMed: Reis 2021 family, 1 affected M - Netherlands - - - - - 1 Johan den Dunnen
+?/. - c.245T>C r.(?) p.(Met82Thr) Parent #2 - likely pathogenic (recessive) g.47882232T>C g.47416560T>C - - FOXE3_000090 - PubMed: Taha Najim 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MCOP Pat13 PubMed: Taha Najim 2020 2-generation family, unaffected heterozygous carrier parents F - Sweden - - - - - 1 Johan den Dunnen
+/. - c.250C>G r,(?) p.(Leu84Val) Both (homozygous) - pathogenic (recessive) g.47882237C>G g.47416565C>G - - FOXE3_000091 - PubMed: Ernst 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - 59-gene panel ? Pat13 PubMed: Ernst 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no India - - - - - 1 Johan den Dunnen
+/. 1 c.269G>T r.(?) p.(Arg90Leu) Unknown - pathogenic g.47882256G>T g.47416584G>T - - FOXE3_000003 - - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Daniel Kelberman
+?/. 1 c.269G>T r.(?) p.(Arg90Leu) Unknown - likely pathogenic g.47882256G>T g.47416584G>T - - FOXE3_000003 - PubMed: Ormestad 2002 - - Germline - - - - - DNA SEQ - - CTRCT - PubMed: Ormestad 2002 - - no Sweden - - - - - 1 Deepti Anand
+/. - c.269G>T r.(?) p.(Arg90Leu) Maternal (confirmed) - pathogenic (recessive) g.47882256G>T g.47416584G>T - - FOXE3_000003 - PubMed: Islam 2015 - - Germline - - - - - DNA SEQ - - ASGD2 Pat3 PubMed: Islam 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.269G>T r.(?) p.(Arg90Leu) Maternal (confirmed) - pathogenic (recessive) g.47882256G>T g.47416584G>T - - FOXE3_000003 - PubMed: Plaisancie 2018 - - Germline - - - - - DNA SEQ - - MCOP Pat1 PubMed: Plaisancie 2018 patient - - France - - - - - 1 Johan den Dunnen
+/. - c.269G>T r,(?) p.(Arg90Leu) Both (homozygous) - pathogenic (recessive) g.47882256G>T g.47416584G>T - - FOXE3_000003 - PubMed: Ernst 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - 59-gene panel ? Pat4 PubMed: Ernst 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M no England - - - - - 1 Johan den Dunnen
-/. 1 c.276C>T r.(?) p.(Leu92=) Parent #1 - benign g.47882263C>T g.47416591C>T - - FOXE3_000024 1/158 African American controls PubMed: Reis 2010, Journal: Reis 2010 - - Germline - 1/682 controls - - - DNA SEQ, SEQ-NG - - - - PubMed: Reis 2010, Journal: Reis 2010 682 controls - - - - - - - - 1 Johan den Dunnen
+?/. - c.286G>A r.(?) p.(Ala96Thr) Parent #2 ACMG likely pathogenic (recessive) g.47882273G>A g.47416601G>A - - FOXE3_000092 ACMG PM1, PM2, PM3, PP2, PP3, PP4 PubMed: Reis 2021 - - Germline - - - - - DNA SEQ - - ? Fam4 PubMed: Reis 2021 family, 1 affected F - - white;Asia - - - - 1 Johan den Dunnen
?/. 1 c.289A>G r.(?) p.(Ile97Val) Parent #1 - likely pathogenic g.47882276A>G g.47416604A>G - - FOXE3_000011 - PubMed: Gillespie 2014 - - Germline - - - - - DNA SEQ - - CTRCT - PubMed: Gillespie 2014 - - - - - - - - - 1 Deepti Anand
+/. 1 c.289A>G r.(?) p.(Ile97Val) Both (homozygous) - pathogenic g.47882276A>G g.47416604A>G - - FOXE3_000011 - PubMed: Ullah 2016 - - Germline yes - - - - DNA SEQ - - ASGD2 FamMA143 PubMed: Ullah 2016 6-generation family, 6 affecteds (3F, 3M), unaffected hetereozygous carrier parents F;M yes Pakistan - - - - - 6 Deepti Anand
+/. - c.289A>G r.(?) p.(Ile97Val) Both (homozygous) - pathogenic (recessive) g.47882276A>G g.47416604A>G - - FOXE3_000011 - PubMed: Basharat 2023, Journal: Basharat 2023 - - Germline yes - - - - DNA SEQ Blood - ? MA201PatIII3 PubMed: Basharat 2023, Journal: Basharat 2023 4-generation family, 4 affected (3F, M), unaffected heterozygous parents/relatives F yes Pakistan Asia-S - - - - 4 Rabia Basharat
+/. - c.289A>G r.(?) p.(Ile97Val) Both (homozygous) ACMG likely pathogenic (recessive) g.47882276A>G g.47416604A>G - - FOXE3_000011 ACMG PM1, PM2, PM5, PP2, PP3 PubMed: Rashid 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ASGD GCUF06 PubMed: Rashid 2020 4-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 5 Johan den Dunnen
+/. - c.289A>G r.(?) p.(Ile97Val) Both (homozygous) ACMG pathogenic (recessive) g.47882276A>G g.47416604A>G - - FOXE3_000011 ACMG PS1, PM1, PM2, PM3, PP2, PP3 PubMed: Reis 2021 - - Germline - - - - - DNA SEQ - - ? Fam8 PubMed: Reis 2021 family, 1 affected M - Pakistan Asia-S - - - - 1 Johan den Dunnen
+/. - c.291C>G r.(?) p.(Ile97Met) Both (homozygous) - pathogenic (recessive) g.47882278C>G g.47416606C>G - - FOXE3_000083 - PubMed: Quiroz-Casian 2018 - - Germline - - - - - DNA SEQ - - MCOP Pat1 PubMed: Quiroz-Casian 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Mexico - - - - - 1 Johan den Dunnen
?/. - c.291C>G r.(?) p.(Ile97Met) Both (homozygous) ACMG VUS g.47882278C>G g.47416606C>G - - FOXE3_000083 ACMG PM2, PP3 PubMed: Thanikachalam 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - ASGD Fam18PatII1 PubMed: Thanikachalam 2020 2-generation family, 1 affected, unaffected parents M - United States white;Hispanic - - - - 1 Johan den Dunnen
+/. - c.291C>G r.(?) p.(Ile97Met) Both (homozygous) ACMG pathogenic (recessive) g.47882278C>G g.47416606C>G - - FOXE3_000083 ACMG PS1, PM1, PM2, PM3, PP2, PP3 PubMed: Reis 2021 - - Germline - - - - - DNA SEQ - - ? Fam9PatA PubMed: Reis 2021 family, 2 affected M - Mexico Latino - - - - 2 Johan den Dunnen
+/. - c.291C>G r.(?) p.(Ile97Met) Both (homozygous) ACMG pathogenic (recessive) g.47882278C>G g.47416606C>G - - FOXE3_000083 ACMG PS1, PM1, PM2, PM3, PP2, PP3 PubMed: Reis 2021 - - Germline - - - - - DNA SEQ - - ? Fam9PatB PubMed: Reis 2021 brother M - Mexico Latino - - - - 1 Johan den Dunnen
+?/. 1 c.292T>C r.(?) p.(Tyr98His) Both (homozygous) - likely pathogenic g.47882279T>C g.47416607T>C - - FOXE3_000005 - PubMed: Ali 2010 - - Germline yes - - - - DNA SEQ - - ASGD2 - PubMed: Ali 2010 6-generation family, 9 affecteds (4F, 5M), unaffected heterozygous carrier parents/sibs F;M yes Mexico Mexican, Tlaxcala - - - - 9 Deepti Anand
+/. - c.292T>C r.(?) p.(Tyr98His) Both (homozygous) - pathogenic (recessive) g.47882279T>C g.47416607T>C - - FOXE3_000005 - PubMed: Pantoja-Melendez 2013 - - Germline yes 10/405 heterozygous carriers local controls - - - DNA SEQ - - ? family PubMed: Pantoja-Melendez 2013 several families, 17 affected, unaffected heterozygous carrier parents F;M - Mexico mestizo - - - - 17 Johan den Dunnen
+/. - c.292T>C r.(?) p.(Tyr98His) Both (homozygous) - pathogenic (recessive) g.47882279T>C g.47416607T>C - - FOXE3_000005 - PubMed: Garcia-Montalvo 2014 - - Germline - - - - - DNA SEQ - - MCOP patient PubMed: Garcia-Montalvo 2014 patient - - Mexico - - - - - 1 Johan den Dunnen
?/. - c.300C>A r.(?) p.(Phe100Leu) Unknown - VUS g.47882287C>A - FOXE3(NM_012186.3):c.300C>A (p.F100L) - FOXE3_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.307G>A r.(?) p.(Glu103Lys) Both (homozygous) - pathogenic (recessive) g.47882294G>A g.47416622G>A - - FOXE3_000048 - PubMed: Chen 2017 - - Germline yes - - - - DNA SEQ - - CTRCT Fam60039 PubMed: Chen 2017 2-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives F;M - - - - - - - 5 Johan den Dunnen
+/. - c.307G>A r.(?) p.(Glu103Lys) Both (homozygous) - pathogenic (recessive) g.47882294G>A g.47416622G>A - - FOXE3_000048 - PubMed: Khan 2016 - - Germline yes - - - - DNA SEQ - - CTRCT FamPKCC039 PubMed: Khan 2016 5-generation family, 7 affected brother (4)/sisters (3), unaffected heterozygous carrier parents F;M yes Pakistan - - - - - 7 Johan den Dunnen
+/. - c.310C>T r.(?) p.(Arg104Cys) Paternal (confirmed) - pathogenic (recessive) g.47882297C>T g.47416625C>T - - FOXE3_000084 - PubMed: Plaisancie 2018 - - Germline - - - - - DNA SEQ - - MCOP Pat2 PubMed: Plaisancie 2018 patient - - France - - - - - 1 Johan den Dunnen
?/. - c.325C>A r.(?) p.(Arg109Ser) Unknown ACMG VUS g.47882312C>A g.47416640C>A FOXE3 c.325C>A p.(Arg109Ser) het FOXE3 c.555dupC p.(Phe186LeufsTer99) het - FOXE3_000059 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 45 genes panel tested retinal disease 17015864 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
?/. - c.325C>T r.(?) p.(Arg109Cys) Unknown - VUS g.47882312C>T - FOXE3(NM_012186.3):c.325C>T (p.(Arg109Cys)) - FOXE3_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.334C>T r.(?) p.(Pro112Ser) Unknown - likely benign g.47882321C>T g.47416649C>T FOXE3(NM_012186.2):c.334C>T (p.P112S), FOXE3(NM_012186.3):c.334C>T (p.P112S) - FOXE3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.334C>T r.(?) p.(Pro112Ser) Unknown - likely benign g.47882321C>T g.47416649C>T FOXE3(NM_012186.2):c.334C>T (p.P112S), FOXE3(NM_012186.3):c.334C>T (p.P112S) - FOXE3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.345G>A r.(?) p.(Trp115Ter) Paternal (confirmed) - pathogenic (recessive) g.47882332G>A g.47416660G>A - - FOXE3_000085 - PubMed: Plaisancie 2018 - - Germline - - - - - DNA SEQ - - MCOP Pat3 PubMed: Plaisancie 2018 patient - - France - - - - - 1 Johan den Dunnen
+/. - c.351C>G r.(?) p.(Asn117Lys) Both (homozygous) - pathogenic (recessive) g.47882338C>G g.47416666C>G - - FOXE3_000081 - PubMed: Khan 2016 - - Germline yes - - - - DNA SEQ - - CTRCT FamPKCC009 PubMed: Khan 2016 4-generation family, 5 affected brother (3)/sisters (2), unaffected heterozygous carrier parents F;M yes Pakistan - - - - - 5 Johan den Dunnen
?/. - c.352A>G r.(?) p.(Ser118Gly) Both (homozygous) ACMG VUS g.47882339A>G g.47416667A>G FOXE3 c.352A>G p.(Ser118Gly) hom - FOXE3_000060 homozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 114 genes panel tested retinal disease 16017070 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. 1 c.358C>G r.(?) p.(Arg120Gly) Both (homozygous) - pathogenic g.47882345C>G g.47416673C>G - - FOXE3_000002 - - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Daniel Kelberman
+/. - c.358C>G r.(?) p.(Arg120Gly) Both (homozygous) - pathogenic (recessive) g.47882345C>G g.47416673C>G - - FOXE3_000002 - PubMed: Islam 2015 - - Germline - - - - - DNA SEQ - - ASGD2 Pat1 PubMed: Islam 2015 2-generation family, 1 affected, unaffected carrier mother - yes United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
+/. - c.358C>G r,(?) p.(Arg120Gly) Both (homozygous) - pathogenic (recessive) g.47882345C>G g.47416673C>G - - FOXE3_000002 - PubMed: Ernst 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - 59-gene panel ? Pat2 PubMed: Ernst 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Pakistan - - - - - 1 Johan den Dunnen
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