Inherited white matter disorders

Gene: GJA1

Green List (high evidence)

GJA1 (gap junction protein alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000152661
EnsemblGeneIds (GRCh37): ENSG00000152661
OMIM: 121014, Gene2Phenotype
GJA1 is in 23 panels

3 reviews

Ellen Thomas (Genomics England Curator)

Comment on list classification: Also in eligibility statement as relevant prior testing.
Created: 6 Oct 2016, 9:06 a.m.

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM, not in G2P / DD. Numerous variants described and present in Leukodystrophies: A Historical Perspective and Adapted Definition (PMID 27564080).
Created: 1 Sep 2016, 8:58 a.m.
Comment on phenotypes: Also associated with Atrioventricular septal defect 3 600309 AD; Craniometaphyseal dysplasia, autosomal recessive 218400; Erythrokeratodermia variabilis et progressive 133200 AR, AD; Hypoplastic left heart syndrome 1 241550 AR; Palmoplantar keratoderma with congenital alopecia 104100 AD; Syndactyly, type III 186100
Created: 1 Sep 2016, 8:57 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for Oculodentodigital dysplasia (ODDD). Confirmed DD gene for AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA and AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA. Multiple cases reported on OMIM for Oculodentodigital dysplasia, with different variants and different studies. Green gene in the Meiges panel version 1.16 and unexplained skeletal dysplasia panel version 1. Is not on the Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel submitted to the UKGTN by Leeds Genetics Laboratory.
Created: 26 Aug 2016, 10:26 a.m.
Relevant phenotypes and mode of inheritance sourced from OMIM.
Created: 8 Jan 2016, 10:44 a.m.

History Filter Activity

6 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

6 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Sep 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for GJA1 were set to Oculodentodigital dysplasia (AD) 164200; Oculodentodigital dysplasia, autosomal recessive 257850

1 Sep 2016, Gel status: 2

Upload gene information

Sarah Leigh (Genomics England Curator)

GJA1 was added to Inherited white matter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

1 Sep 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for GJA1 were set to Oculodentodigital dysplasia (AD) 164200; Oculodentodigital dysplasia, autosomal recessive 257850

26 Aug 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

8 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GJA1 was created by ellenmcdonagh

8 Jan 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GJA1 was added to Inherited white matter disorderspanel. Sources: Eligibility statement prior genetic testing,Other