Variants studied for Dejerine-Sottas disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
12	6	49	0	4	1	66

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	not provided	total
MPZ	4	3	15	0	0	20
PMP22	1	2	15	0	0	17
PRX	3	1	11	3	0	17
EGR2	3	0	6	1	1	9
GJB1	1	0	2	0	0	3

Submitter and significance breakdown #

Total submitters: 19

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	not provided	total
Inherited Neuropathy Consortium	0	0	34	0	0	34
Baylor Genetics	0	0	8	0	0	8
3billion	2	4	0	0	0	6
Genome-Nilou Lab	0	0	0	4	0	4
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	3	0	0	3
Mendelics	2	0	0	0	0	2
GeneReviews	1	0	0	0	1	2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	2	0	0	0	0	2
Inherited Neuropathy Consortium Ii, University Of Miami	0	0	2	0	0	2
OMIM	1	0	0	0	0	1
Institute of Human Genetics, University of Goettingen	1	0	0	0	0	1
Northcott Neuroscience Laboratory, ANZAC Research Institute	1	0	0	0	0	1
Centre for Translational Omics - GOSgene, University College London	1	0	0	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	0	1	0	0	1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology	0	1	0	0	0	1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	1	0	0	0	0	1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital	0	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	1
Pangenia Genomics, Pangenia Inc.	0	0	1	0	0	1

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