1. Panels
  2. Adult onset leukodystrophy
  3. GJA1
STRs in panel
Prev Next
Regions in panel
Prev Next

Adult onset leukodystrophy

Gene: GJA1

Green List (high evidence)
GJA1 (gap junction protein alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000152661
EnsemblGeneIds (GRCh37): ENSG00000152661
OMIM: 121014, Gene2Phenotype
GJA1 is in 25 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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850

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

History Filter Activity

31 Aug 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: GJA1 were changed from Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850 to Oculodentodigital dysplasia, OMIM:164200; Oculodentodigital dysplasia, autosomal recessive, OMIM:257850

24 Jul 2019, Gel status: 3

Set mode of inheritance, Set Phenotypes

Catherine Snow (Genomics England)

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

4 Jul 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene GJA1 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 GJA1. 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 GJA1.

4 Jul 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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