GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PPT1 L10Xinsufficiently evaluated pathogenicunknown

(5 web hits)

PPT1 C45Yinsufficiently evaluated pathogenicunknown
PPT1 M57Shiftuncertain not reviewedunknown

Although there are no known reports for this variant, this is predicted to be very disruptive. Other disruptive mutations in this gene cause infantile Neuronal ceroid-lipofuscinosis in a recessive manner, this variant is predicted to have the same effect.

CGI sample GS000005532
PPT1 T75Ppathogenicrecessive

Reported to cause neuronal ceroid lipofuscinosis, a neurodegenerative disorder, in a recessive manner. This assertion is recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000009451/), and comes from Mitchison et al 1998 (PMID: 9425237). Mitchison et al report this variant was seen in 8 of 22 patients studied, once homozygous and others compound heterozygous.

(24 web hits)

PPT1 D79Ginsufficiently evaluated pathogenicunknown

(8 web hits)

PPT1 I87Linsufficiently evaluated not reviewedunknown
PPT1 G108Rinsufficiently evaluated pathogenicunknown

(12 web hits)

PPT1 R122Winsufficiently evaluated pathogenicunknown

(30 web hits)

PPT1 I134Tinsufficiently evaluated none, f=0.034unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS19701-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS20509-1100-36-ASM
PPT1 R151Xinsufficiently evaluated pathogenic, f=0.000unknown

(35 web hits)

PPT1 Q176Hinsufficiently evaluated noneunknown
PPT1 I190Linsufficiently evaluated not reviewedunknown
PPT1 L219Qinsufficiently evaluated pathogenicunknown

(12 web hits)

PPT1 Q279Hinsufficiently evaluated none, f=0.026unknown var-GS19025-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
Page: 1 2
Total results: 14

Gene search

"GENE" or "GENE A123C":

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