Inherited white matter disorders
Gene: GJA1Comment on list classification: Also in eligibility statement as relevant prior testing.Created: 6 Oct 2016, 9:06 a.m.
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 186100Created: 1 Sep 2016, 8:57 a.m.
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.
Phenotypes for gene: GJA1 were changed from Oculodentodigital dysplasia (AD) 164200; Oculodentodigital dysplasia, autosomal recessive 257850 to Oculodentodigital dysplasia, OMIM:164200; Oculodentodigital dysplasia, autosomal recessive, OMIM:257850
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for GJA1 were set to Oculodentodigital dysplasia (AD) 164200; Oculodentodigital dysplasia, autosomal recessive 257850
GJA1 was added to Inherited white matter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for GJA1 were set to Oculodentodigital dysplasia (AD) 164200; Oculodentodigital dysplasia, autosomal recessive 257850
This gene has been classified as Amber List (Moderate Evidence).
GJA1 was created by ellenmcdonagh
GJA1 was added to Inherited white matter disorderspanel. Sources: Eligibility statement prior genetic testing,Other