White matter disorders - adult onsetGene: GJA1
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850
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
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
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene GJA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850 for gene: GJA1
Publications for gene GJA1 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Source Expert Review Green was added to GJA1. Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to GJA1.
gene: GJA1 was added gene: GJA1 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH Mode of inheritance for gene: GJA1 was set to