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  3. GJB1
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Adult onset leukodystrophy

Gene: GJB1

Green List (high evidence)
GJB1 (gap junction protein beta 1)
EnsemblGeneIds (GRCh38): ENSG00000169562
EnsemblGeneIds (GRCh37): ENSG00000169562
OMIM: 304040, Gene2Phenotype
GJB1 is in 7 panels

4 reviews

David Lynch (UCL Institute of Neurology)

Green List (high evidence)

Created: 13 Sep 2019, 4:20 p.m.
Last Modified: 13 Sep 2019, 4:20 p.m.
Panel version: 0.19

Catherine Snow (Genomics England)

I don't know

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800

Created: 24 Jul 2019, 2:49 p.m.
Last Modified: 24 Jul 2019, 2:49 p.m.
Panel version: 0.14

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating uploaded from file (Consensus gene list for R62 Adult-Onset Leukodystrophy - Leeds.xlsx) submitted by Ian Berry (Leeds Genetics Laboratory) on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Phenotype and MOI not submitted.
Created: 4 Jul 2019, 4:32 p.m. | Last Modified: 4 Jul 2019, 4:32 p.m.
Panel Version: 0.10
Created: 4 Jul 2019, 4:32 p.m.
Last Modified: 4 Jul 2019, 4:32 p.m.
Panel version: 0.10

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Included all genes listed in clinical cases in Lynch et al 2015 PMID:28334938 and Ayrignac et al. 2015 PMID: 25527826. Included all genes with clear adult onset listed in Vanderver 2017 PMID:27159321 and Ahmed et al. 2017 PMID:24357685. A small number of genes from these resources were omitted, particularly those with limited or single case reports referenced in Ahmed et al, those with a metabolic basis (that could be determined by standard metabolic assays), and recessive diseases where the likelihood of encountering incidental carrier status is far more likely than finding a diagnosis e.g. Cockayne syndrome. Due to variable expressivity and potential later onset of phenotype in hypomorphic cases, peroxisomal biogenesis disorders OMIM phenotypic Series PS214100 and GeneReviews PMID:20301621 included.
Created: 4 Jul 2019, 4:06 p.m. | Last Modified: 4 Jul 2019, 4:06 p.m.
Panel Version: 0.9

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 Jul 2019, 4:06 p.m.
Last Modified: 4 Jul 2019, 4:06 p.m.
Panel version: 0.9

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800
OMIM
304040
Clinvar variants
Variants in GJB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jul 2019, Gel status: 3

Set mode of inheritance, Set Phenotypes

Catherine Snow (Genomics England)

Mode of inheritance for gene GJB1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 for gene: GJB1

4 Jul 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene GJB1 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685

4 Jul 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to GJB1. Rating Changed from Red List (low evidence) to Green List (high evidence)

4 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to GJB1.

4 Jul 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: GJB1 was added gene: GJB1 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH Mode of inheritance for gene: GJB1 was set to