Full data view for gene PPT1

An NCL gene variant database
Information The variants shown are described using the NM_000310.3 transcript reference sequence.

397 entries on 4 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.(798+1_799-1)_(*1_*1351) r.(?) p.(?) Unknown - likely pathogenic g.? g.? PPT1(NM_000310.3):c.722C>T(p.S241L)/CDS9 deletion - NPHS2_000000 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 210 - - - DNA SEQ-NG-I blood - ? WHP110 PubMed: Sun 2018 - M - China - - - - - 1 LOVD
-/. 1 c.-109C>A r.(?) p.(=) Parent #1 - benign g.40563019G>T g.40097347G>T - - PPT1_000005 - - - rs41301070 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/. 1 c.-109C>A r.(-109c>a) p.(?) Parent #1 - pathogenic g.40563019G>T g.40097347G>T g.1--109C>A - PPT1_000005 was iniitally publoished as g.1-123C>A; g.1-109C>A PubMed: Mole 2001, Batten disease database - rs41301070 Germline - - - - - DNA SEQ - - CLN 11589012-? PubMed: Mole 2001, Batten disease database - - - Netherlands - - - - - 1 Johan den Dunnen
+?/. - c.2T>C r.(?) p.(Met1?) Parent #1 - likely pathogenic g.40562909A>G g.40097237A>G - - PPT1_000089 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs796052927 Germline - 3/2785 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
+/. 1 c.3G>A r.(3g>a) p.0? Parent #1 - pathogenic g.40562908C>T g.40097236C>T Inefficient initiation (p.Met1?) - PPT1_000069 - PubMed: Das 1998, Batten disease database - - Germline - - - - - DNA SEQ - - CLN 9664077-? PubMed: Das 1998, Batten disease database - - - United States; Canada Scottish; German; Irish - - - - 1 Johan den Dunnen
+/. 1 c.3G>A r.(3g>a) p.0? Parent #1 - pathogenic g.40562908C>T g.40097236C>T c.3G>A, Inefficient initiation (p.Met1?) - PPT1_000069 - PubMed: Das 1998, Batten disease database - - Germline - - - - - DNA SEQ - - CLN 9664077-? PubMed: Das 1998, Batten disease database - - - United States; Canada German; Native American - - - - 1 Johan den Dunnen
?/. - c.3G>A r.(?) p.(Met1?) Unknown - VUS g.40562908C>T g.40097236C>T PPT1(NM_000310.3):c.3G>A (p.(Met1?)) - PPT1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.14G>A r.(?) p.(Gly5Asp) Unknown - likely benign g.40562897C>T - PPT1(NM_000310.3):c.14G>A (p.G5D) - PPT1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.18C>A r.(?) p.(Cys6*) Both (homozygous) ACMG likely pathogenic g.40562893G>T - - - PPT1_000100 - - - - Germline - - - - - DNA SEQ DBS - CLN1 ? - - F yes Uzbekistan - - - - - 1 Corina-Marcela Rus
+/. 1 c.29T>A r.(29u>a) p.(Leu10*) Parent #2 - pathogenic g.40562882A>T g.40097210A>T p.Leu10X - PPT1_000068 - PubMed: Mitchison 1998, Batten disease database - rs137852699 Germline - - - - - DNA SEQ - - CLN 9425237-? PubMed: Mitchison 1998, Batten disease database - - - Scotland - - - - - 1 Johan den Dunnen
+/. 1 c.29T>A r.(29u>a) p.(Leu10*) Parent #2 - pathogenic g.40562882A>T g.40097210A>T p.Leu10X - PPT1_000068 - PubMed: Mitchison 1998, Batten disease database - rs137852699 Germline - - - - - DNA SEQ - - CLN 9425237-? PubMed: Mitchison 1998, Batten disease database - - - Scotland - - - - - 1 Johan den Dunnen
+/. 1 c.29T>A r.(29u>a) p.(Leu10*) Parent #1 - pathogenic g.40562882A>T g.40097210A>T p.Leu10X - PPT1_000068 - PubMed: Das 1998, Batten disease database - rs137852699 Germline - - - - - DNA SEQ - - CLN 9664077-? PubMed: Das 1998, Batten disease database - - - United States; Canada Norwegian; Canadian; Cherokee - - - - 1 Johan den Dunnen
+/. 1 c.29T>A r.(29u>a) p.(Leu10*) Parent #2 - pathogenic g.40562882A>T g.40097210A>T p.Leu10X - PPT1_000068 - PubMed: Munroe 1998, Batten disease database - rs137852699 Germline - - - - - DNA SEQ - - CLN 9733046-? PubMed: Munroe 1998, Batten disease database - - - Scotland - - - - - 1 Johan den Dunnen
+/. 1 c.29T>A r.(29u>a) p.(Leu10*) Parent #2 - pathogenic g.40562882A>T g.40097210A>T p.Leu10X - PPT1_000068 - PubMed: Kousi 2012, Batten disease database - rs137852699 Germline - - - - - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 1 c.29T>A r.(29u>a) p.(Leu10*) Parent #2 - pathogenic g.40562882A>T g.40097210A>T p.Leu10X - PPT1_000068 - PubMed: Kousi 2012, Batten disease database - rs137852699 Germline - - - - - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 1 c.29T>A r.(29u>a) p.(Leu10*) Parent #2 - pathogenic g.40562882A>T g.40097210A>T p.Leu10X - PPT1_000068 - PubMed: Kousi 2012, Batten disease database - rs137852699 Germline - - - - - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 1 c.29T>A r.(29u>a) p.(Leu10*) Parent #2 - pathogenic g.40562882A>T g.40097210A>T p.Leu10X - PPT1_000068 - PubMed: Kousi 2012, Batten disease database - rs137852699 Germline - - - - - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 1 c.29T>A r.(29u>a) p.(Leu10*) Parent #2 - pathogenic g.40562882A>T g.40097210A>T p.Leu10X - PPT1_000068 - PubMed: Kousi 2012, Batten disease database - rs137852699 Germline - - - - - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database - - - Canada - - - - - 1 Johan den Dunnen
+/. 1 c.29T>A r.(29u>a) p.(Leu10*) Both (homozygous) - pathogenic g.40562882A>T g.40097210A>T p.Leu10X - PPT1_000068 - PubMed: Das 1998, Batten disease database - rs137852699 Germline - - - - - DNA SEQ - - CLN 9664077-? PubMed: Das 1998, Batten disease database - - - United States; Canada Greek; Irish - - - - 1 Johan den Dunnen
+/. 1 c.29T>A r.(29u>a) p.(Leu10*) Both (homozygous) - pathogenic g.40562882A>T g.40097210A>T p.Leu10X - PPT1_000068 - PubMed: Munroe 1998, Batten disease database - rs137852699 Germline - - - - - DNA SEQ - - CLN 9733046-? PubMed: Munroe 1998, Batten disease database - - - Scotland - - - - - 1 Johan den Dunnen
+/. - c.29T>A r.(?) p.(Leu10Ter) Unknown - pathogenic g.40562882A>T g.40097210A>T PPT1(NM_000310.3):c.29T>A (p.L10*), PPT1(NM_000310.4):c.29T>A (p.(Leu10*)) - PPT1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.29T>A r.(?) p.(Leu10*) Unknown - likely pathogenic g.40562882A>T g.40097210A>T c.29T>A, p.(Leu10*) - PPT1_000068 Compound heterozygous PubMed: Jilani 2019 - - Germline ? - - - - DNA SEQ - - CLN 2 PubMed: Jilani 2019 - M no - - - - - - 1 LOVD
+/. - c.29T>A r.(?) p.(Leu10Ter) Unknown - pathogenic g.40562882A>T - PPT1(NM_000310.3):c.29T>A (p.L10*), PPT1(NM_000310.4):c.29T>A (p.(Leu10*)) - PPT1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.(?_69)_(125-76_?)del r.? p.? Both (homozygous) - pathogenic (recessive) g.(?_40558255)_(40562842_?)del g.(?_40092583)_(40097170_?)del chr1:40558255-40562842del - PPT1_000109 - PubMed: Nambot 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? PED2770.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
+?/. 1 c.74_78dup r.(?) p.(Leu27Serfs*12) Both (homozygous) ACMG likely pathogenic g.40562833_40562837dup - - - PPT1_000097 - - - - Germline - - - - - DNA SEQ DNA - CLN1 ? - - F yes Iran - - - - - 1 Corina-Marcela Rus
+/. 1 c.114del r.(?) p.(Trp38CysfsTer12) Parent #2 - pathogenic g.40562798del g.40097126del p.Trp38CysfsX12 - PPT1_000066 - PubMed: Kousi 2012, Batten disease database - - Germline - - - - - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 1 c.114del r.(?) p.(Trp38CysfsTer12) Both (homozygous) - pathogenic g.40562798del g.40097126del p.Trp38X - PPT1_000066 - PubMed: Kousi 2012, Batten disease database - - Germline - - - - - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 1 c.114G>T r.(114g>u) p.(Trp38*) Both (homozygous) - pathogenic g.40562797C>A g.40097125C>A p.Trp38Cys - PPT1_000067 - PubMed: Kousi 2009, Batten disease database - - Germline - - - - - DNA SEQ - - CLN 19201763-? PubMed: Kousi 2009, Batten disease database - - - Turkey - - - - - 1 Johan den Dunnen
+/. 1 c.114G>T r.(114g>u) p.(Trp38*) Both (homozygous) - pathogenic g.40562797C>A g.40097125C>A p.Trp38Cys - PPT1_000067 - PubMed: Kousi 2012, Batten disease database - - Germline - - - - - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database - - - Turkey - - - - - 1 Johan den Dunnen
+/. 1 c.114G>T r.(114g>u) p.(Trp38*) Both (homozygous) - pathogenic g.40562797C>A g.40097125C>A p.Trp38Cys - PPT1_000067 - PubMed: Kousi 2012, Batten disease database - - Germline - - - - - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database - - - Turkey - - - - - 1 Johan den Dunnen
+/. 1 c.117T>A r.(117u>a) p.(His39Gln) Parent #1 - pathogenic g.40562794A>T g.40097122A>T p.His39Gln - PPT1_000065 - PubMed: Das 1998, Batten disease database - - Germline - - - - - DNA SEQ - - CLN 9664077-? PubMed: Das 1998, Batten disease database - - - United States; Canada Irish; Welsh; English; German; Norwegian - - - - 1 Johan den Dunnen
+/. 1i c.124+1G>A r.spl p.? Parent #1 - pathogenic g.40562786C>T g.40097114C>T IVS1+1G>A - PPT1_000064 - PubMed: Bi 2006, Batten disease database - - Germline - - - - - DNA SEQ - - CLN 17044973-? PubMed: Bi 2006, Batten disease database - - - China - - - - - 1 Johan den Dunnen
-/. - c.124+18T>G r.(=) p.(=) Unknown - benign g.40562769A>C - PPT1(NM_001363695.2):c.124+18T>G - PPT1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.124+139G>A r.(=) p.(=) Unknown - likely benign g.40562648C>T g.40096976C>T PPT1(NM_000310.3):c.124+139G>A - PPT1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i_2i c.124+1215_235-102del r.125_433del p.(Asp43_Gly145del) Parent #2 - pathogenic g.40557947_40561573del g.40092275_40095901del c.124+1214del3.6kb - PPT1_000054 c.124+1214 del3.6Kb: skipping of exons 2-4 at the cDNA level; c.124+1215_235-102del3627: 3.6kb deletion or p.Gly42_Gly306delinsAlaLysLeuArg PubMed: Simonati 2009, Batten disease database - - Germline - - - - - DNA SEQ - - CLN 19302939-? PubMed: Simonati 2009, Batten disease database - - - Italy - - - - - 1 Johan den Dunnen
-/. - c.125-1652C>T r.(=) p.(=) Unknown - benign g.40559831G>A g.40094159G>A PPT1(NM_000310.3):c.125-1652C>T - PPT1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.125-1564A>G r.(=) p.(=) Unknown - likely benign g.40559743T>C g.40094071T>C PPT1(NM_000310.3):c.125-1564A>G - PPT1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.125-188_125-185del r.(=) p.(=) Unknown - likely benign g.40558366_40558369del g.40092694_40092697del PPT1(NM_000310.3):c.125-188_125-185delAAGT - PPT1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.125-15T>G r.125_433del p.(Asp43_Gly145del) Both (homozygous) - pathogenic g.40558194A>C g.40092522A>C c.125-15T>G - PPT1_000062 - PubMed: Bonsignore 2006, Batten disease database - - Germline - - - - - DNA SEQ - - CLN 16759889-? PubMed: Bonsignore 2006, Batten disease database Sibs. aberrant splicing confirmed (LINCL phenotype - but towards the severe spectrum) - - Italy - - - - - 1 Johan den Dunnen
+/. 1i c.125-15T>G r.125_433del p.(Asp43_Gly145del) Both (homozygous) - pathogenic g.40558194A>C g.40092522A>C c.125-15T>G - PPT1_000062 - PubMed: Bonsignore 2006, Batten disease database - - Germline - - - - - DNA SEQ - - CLN 16759889-? PubMed: Bonsignore 2006, Batten disease database aberrant splicing confirmed (LINCL phenotype - but towards the severe spectrum) - - Italy - - - - - 1 Johan den Dunnen
+/. 1i c.125-2A>G r.spl p.? Both (homozygous) - pathogenic g.40558181T>C g.40092509T>C c.125-2A>G - PPT1_000061 IVS1-2A>G PubMed: Salonen 2000, Batten disease database - - Germline - - - - - DNA SEQ - - CLN 10679943-? PubMed: Salonen 2000, Batten disease database - - - Turkey - - - - - 1 Johan den Dunnen
?/. - c.125G>A r.(?) p.(Gly42Glu) Unknown - VUS g.40558179C>T g.40092507C>T - - PPT1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 2 c.125G>A r.(125g>a) p.(Gly42Glu) Parent #1 - pathogenic g.40558179C>T g.40092507C>T p.Gly42Glu - PPT1_000002 - PubMed: Das 1998, Batten disease database - - Germline - - - - - DNA SEQ - - CLN 9664077-? PubMed: Das 1998, Batten disease database - - - United States; Canada Swedish; Norwegian - - - - 1 Johan den Dunnen
+/. 2 c.134G>A r.(134g>a) p.(Cys45Tyr) Parent #2 - pathogenic g.40558170C>T g.40092498C>T p.Cys45Tyr - PPT1_000059 - PubMed: Ramadan 2007, Batten disease database - rs137852702 Germline - - - - - DNA SEQ - - CLN 17261688-? PubMed: Ramadan 2007, Batten disease database p.Cys45Tyr shows residual activity thought to be responsible for the late-onset - - England - - - - - 1 Johan den Dunnen
+/. 2 c.134G>A r.(134g>a) p.(Cys45Tyr) Parent #2 - pathogenic g.40558170C>T g.40092498C>T p.Cys45Tyr - PPT1_000059 - PubMed: Kousi 2012, Batten disease database - rs137852702 Germline - - - - - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 2 c.135_137dup r.(?) p.(Cys46dup) Both (homozygous) - pathogenic g.40558169_40558171dup g.40092497_40092499dup p.Cys46dup - PPT1_000060 - PubMed: Salonen 2000, Batten disease database - - Germline - - - - - DNA SEQ - - CLN 10679943-? PubMed: Salonen 2000, Batten disease database - - - - Afro-Carribean; Asian - - - - 1 Johan den Dunnen
+/. 2 c.135_137dup r.(?) p.(Cys46dup) Both (homozygous) - pathogenic g.40558169_40558171dup g.40092497_40092499dup p.Cys46dup - PPT1_000060 - PubMed: Kousi 2012, Batten disease database - - Germline - - - - - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 2 c.163A>T r.(364a>u) p.(Lys55*) Parent #2 - pathogenic g.40558141T>A g.40092469T>A p.Lys55X - PPT1_000058 - PubMed: Munroe 1998, Batten disease database - - Germline - - - - - DNA SEQ - - CLN 9733046-? PubMed: Munroe 1998, Batten disease database - - - Scotland - - - - - 1 Johan den Dunnen
+/. 2 c.163A>T r.(364a>u) p.(Lys55*) Parent #1 - pathogenic g.40558141T>A g.40092469T>A p.Lys55X - PPT1_000058 - PubMed: Vesa 1995, Batten disease database - - Germline - - - - - DNA SEQ - - CLN 7637805-? PubMed: Vesa 1995, Batten disease database - - - England - - - - - 1 Johan den Dunnen
+/. 2 c.169dup r.(?) p.(Met57Asnfs*45) Parent #2 - pathogenic g.40558141dup g.40092469dup p.Met57AsnfsX45 - PPT1_000057 - PubMed: Waliany 2000, Batten disease database - - Germline - - - - - DNA SEQ - - CLN 10649502-? PubMed: Waliany 2000, Batten disease database - - - United States - - - - - 1 Johan den Dunnen
+/. 2 c.169dup r.(?) p.(Met57Asnfs*45) Parent #1 - pathogenic g.40558141dup g.40092469dup p.Met57AsnfsX45 - PPT1_000057 - PubMed: Kousi 2012, Batten disease database - - Germline - - - - - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database variant 2nd allele not identified - - Russia - - - - - 1 Johan den Dunnen
+/. 2 c.169dup r.(?) p.(Met57Asnfs*45) Both (homozygous) - pathogenic g.40558141dup g.40092469dup p.Met57AsnfsX45 - PPT1_000057 - PubMed: Santorelli 1998, Batten disease database - - Germline - - - - - DNA SEQ - - CLN 9571187-? PubMed: Santorelli 1998, Batten disease database - - - Italy - - - - - 1 Johan den Dunnen
+/. 2 c.169dup r.(?) p.(Met57Asnfs*45) Both (homozygous) - pathogenic g.40558141dup g.40092469dup p.Met57AsnfsX45 - PPT1_000057 - PubMed: Salonen 2000, Batten disease database - - Germline - - - - - DNA SEQ - - CLN 10679943-? PubMed: Salonen 2000, Batten disease database - - - Turkey - - - - - 1 Johan den Dunnen
+/. 2 c.169dup r.(?) p.(Met57Asnfs*45) Both (homozygous) - pathogenic g.40558141dup g.40092469dup p.Met57AsnfsX45 - PPT1_000057 - PubMed: Kousi 2012, Batten disease database - - Germline - - - - - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database - - - United States - - - - - 1 Johan den Dunnen
+/. 2 c.169dup r.(?) p.(Met57Asnfs*45) Both (homozygous) - pathogenic g.40558141dup g.40092469dup p.Met57AsnfsX45 - PPT1_000057 - PubMed: Kousi 2012, Batten disease database - - Germline - - - - - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database - - - United States - - - - - 1 Johan den Dunnen
+/. 2 c.169dup r.(?) p.(Met57Asnfs*45) Both (homozygous) - pathogenic g.40558141dup g.40092469dup p.Met57AsnfsX45 - PPT1_000057 - PubMed: Kousi 2012, Batten disease database - - Germline - - - - - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database - - - United States - - - - - 1 Johan den Dunnen
+/. 2 c.169dup r.(?) p.(Met57Asnfs*45) Both (homozygous) - pathogenic g.40558141dup g.40092469dup p.Met57AsnfsX45 - PPT1_000057 - PubMed: Kousi 2012, Batten disease database - - Germline - - - - - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 1i c.174-175delG r.(175delg) p.(Glu59Argfs*12) Parent #1 - pathogenic g.40558305delC g.40092633delC p.Glu59ArgfsX12 - PPT1_000063 Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Salonen 2000, Batten disease database - - Germline - - - - - DNA SEQ - - CLN 10679943-? PubMed: Salonen 2000, Batten disease database - - - England - - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #1 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Mitchison 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9425237-? PubMed: Mitchison 1998, Batten disease database Siblings - - England - - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #1 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Mitchison 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9425237-? PubMed: Mitchison 1998, Batten disease database - - - England - - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #1 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Mitchison 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9425237-? PubMed: Mitchison 1998, Batten disease database Siblings - - Canada - - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #1 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Mitchison 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9425237-? PubMed: Mitchison 1998, Batten disease database - - - Canada - - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #1 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Mitchison 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9425237-? PubMed: Mitchison 1998, Batten disease database - - - Canada - - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #1 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Mitchison 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9425237-? PubMed: Mitchison 1998, Batten disease database - - - Scotland - - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #1 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Mitchison 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9425237-? PubMed: Mitchison 1998, Batten disease database - - - Scotland - - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #1 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Mitchison 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9425237-? PubMed: Mitchison 1998, Batten disease database - - - Scotland - - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #1 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Mitchison 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9425237-? PubMed: Mitchison 1998, Batten disease database - - - Scotland - - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #1 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Mitchison 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9425237-? PubMed: Mitchison 1998, Batten disease database - - - Scotland - - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #1 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Das 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9664077-? PubMed: Das 1998, Batten disease database - - - United States; Canada French Canadian; Irish - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #1 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Das 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9664077-? PubMed: Das 1998, Batten disease database - - - United States; Canada Norwegian; German; Irish; English - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #1 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Das 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9664077-? PubMed: Das 1998, Batten disease database - - - United States; Canada Scottish; Irish; English; French; French Canadian - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #1 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Das 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9664077-? PubMed: Das 1998, Batten disease database - - - United States; Canada Scottish; Irish; German; Hungarian - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #1 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Das 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9664077-? PubMed: Das 1998, Batten disease database - - - United States; Canada German; Irish - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #1 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Das 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9664077-? PubMed: Das 1998, Batten disease database - - - United States; Canada - - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #1 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Waliany 2000, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 10649502-? PubMed: Waliany 2000, Batten disease database - - - United States - - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #2 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Kousi 2012, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database - - - Canada - - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Parent #2 - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Kousi 2012, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database - - - Canada - - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Both (homozygous) - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Mitchison 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9425237-? PubMed: Mitchison 1998, Batten disease database Siblings - - United States - - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Both (homozygous) - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Mitchison 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9425237-? PubMed: Mitchison 1998, Batten disease database - - - United States - - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Both (homozygous) - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Das 1998, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 9664077-? PubMed: Das 1998, Batten disease database very mild clinical course - - United States; Canada Scottish - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Both (homozygous) - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Waliany 2000, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 10649502-? PubMed: Waliany 2000, Batten disease database - - - United States - - - - - 1 Johan den Dunnen
+/. 2 c.223A>C r.(223a>c) p.(Thr75Pro) Both (homozygous) - pathogenic g.40558081T>G g.40092409T>G p.Thr75Pro - PPT1_000055 - PubMed: Kousi 2012, Batten disease database - rs137852696 Germline - - - - - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database - - - Canada - - - - - 1 Johan den Dunnen
+/. - c.223A>C r.(?) p.(Thr75Pro) Unknown - pathogenic g.40558081T>G g.40092409T>G PPT1(NM_000310.4):c.223A>C (p.T75P) - PPT1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.223A>C r.(?) p.(Thr75Pro) Parent #1 - likely pathogenic g.40558081T>G g.40092409T>G - - PPT1_000055 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 627 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.223A>C r.(?) p.(Thr75Pro) Parent #1 - likely pathogenic g.40558081T>G g.40092409T>G - - PPT1_000055 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 628 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.223A>C r.(?) p.(Thr75Pro) Unknown - likely pathogenic g.40558081T>G g.40092409T>G c.223A>C, p.(Thr75Pro) - PPT1_000055 homozygous PubMed: Jilani 2019 - - Germline ? - - - - DNA SEQ - - CLN 4 PubMed: Jilani 2019 - F no - - - - - - 1 LOVD
+?/. - c.223A>C r.(?) p.(Thr75Pro) Unknown - likely pathogenic g.40558081T>G g.40092409T>G c.223A>C, p.(Thr75Pro) - PPT1_000055 Compound heterozygous PubMed: Jilani 2019 - - Germline ? - - - - DNA SEQ - - CLN 6 PubMed: Jilani 2019 - M ? - - 2y10m - - - 1 LOVD
+?/. - c.223A>C r.(?) p.(Thr75Pro) Unknown - likely pathogenic g.40558081T>G g.40092409T>G c.223A>C, p.(Thr75Pro) - PPT1_000055 homozygous PubMed: Jilani 2019 - - Germline ? - - - - DNA SEQ - - CLN 2 PubMed: Jilani 2019 - M no - - - - - - 1 LOVD
?/. - c.223A>C r.(?) p.(Thr75Pro) Unknown - VUS g.40558081T>G g.40092409T>G PPT1 nucleotide 1, protein 1:c.223A>C, p.Thr75Pro nucleotide 2, protein 2:c.325T>G, p.Tyr109Asp - PPT1_000055 heterozygous, ACMG unclassified - no access to supplementary table 2 PubMed: Hull 2020 - - Germline ? - - - - DNA ? blood NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families retinal disease 82 PubMed: Hull 2020 - ? - New Zealand white - - - - 1 LOVD
+/. 2i c.235-3T>C r.spl? p.(?) Parent #1 - pathogenic g.40557847A>G g.40092175A>G c.235-3T>C - PPT1_000053 - PubMed: Kousi 2012, Batten disease database - - Germline - - - - - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database Sibs - - Italy - - - - - 1 Johan den Dunnen
+/. 2i c.235-3T>C r.spl? p.(?) Parent #1 - pathogenic g.40557847A>G g.40092175A>G c.235-3T>C - PPT1_000053 - PubMed: Kousi 2012, Batten disease database - - Germline - - - - - DNA SEQ - - CLN 21990111-? PubMed: Kousi 2012, Batten disease database - - - Italy - - - - - 1 Johan den Dunnen
?/. - c.236A>G r.(?) p.(Asp79Gly) Unknown - VUS g.40557843T>C g.40092171T>C - - PPT1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 3 c.236A>G r.(236a>g) p.(Asp79Gly) Parent #1 - pathogenic g.40557843T>C g.40092171T>C p.Asp79Gly - PPT1_000003 - PubMed: Mitchison 1998, Batten disease database - rs137852697 Germline - - - - - DNA SEQ - - CLN 9425237-? PubMed: Mitchison 1998, Batten disease database - - - United States - - - - - 1 Johan den Dunnen
+/. 3 c.236A>G r.(236a>g) p.(Asp79Gly) Parent #1 - pathogenic g.40557843T>C g.40092171T>C p.Asp79Gly - PPT1_000003 - PubMed: Das 1998, Batten disease database - rs137852697 Germline - - - - - DNA SEQ - - CLN 9664077-? PubMed: Das 1998, Batten disease database - - - United States; Canada English; Hispanic - - - - 1 Johan den Dunnen
-?/. - c.255C>T r.(?) p.(Phe85=) Unknown - likely benign g.40557824G>A g.40092152G>A PPT1(NM_000310.3):c.255C>T (p.F85=), PPT1(NM_000310.4):c.255C>T (p.F85=) - PPT1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.255C>T r.(?) p.(Phe85=) Unknown - likely benign g.40557824G>A - PPT1(NM_000310.3):c.255C>T (p.F85=), PPT1(NM_000310.4):c.255C>T (p.F85=) - PPT1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.255_257del r.(?) p.(Phe85del) Parent #1 - pathogenic g.40557828_40557830del g.40092156_40092158del c.249_251delCTT; referred as Phe84del or p.Ser83_Phe84delinsSer - PPT1_000052 - PubMed: Salonen 2000, Batten disease database - - Germline - - - - - DNA SEQ - - CLN 10679943-? PubMed: Salonen 2000, Batten disease database - - - - English; Irish; German - - - - 1 Johan den Dunnen
+/. 3 c.255_257del r.(?) p.(Phe85del) Parent #1 - pathogenic g.40557828_40557830del g.40092156_40092158del p.Ser83_Phe84delinsSer - PPT1_000052 - PubMed: Waliany 2000, Batten disease database - - Germline - - - - - DNA SEQ - - CLN 10649502-? PubMed: Waliany 2000, Batten disease database - - - United States - - - - - 1 Johan den Dunnen
+/. 3 c.255_257del r.(?) p.(Phe85del) Parent #1 - pathogenic g.40557828_40557830del g.40092156_40092158del p.Ser83_Phe84delinsSer - PPT1_000052 - PubMed: Mole 2001, Batten disease database - - Germline - - - - - DNA SEQ - - CLN 11589012-? PubMed: Mole 2001, Batten disease database - - - Germany - - - - - 1 Johan den Dunnen
+/. 2 c.271_287delinsTT r.(?) p.(Gln91_Cys96delinsPhe) Both (homozygous) - pathogenic g.40557792_40557808delinsAA - p.Gln91_Cys96delinsPhe - PPT1_000056 - PubMed: Mole 2001, Batten disease database - - Germline - - - - - DNA SEQ - - CLN 21990111-? PubMed: Mole 2001, Batten disease database - - - Turkey - - - - - 1 Johan den Dunnen
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