Meiges disease
Gene: GJC2EnsemblGeneIds (GRCh38): ENSG00000198835
EnsemblGeneIds (GRCh37): ENSG00000198835
OMIM: 608803, Gene2Phenotype
GJC2 is in 17 panels
1 review
Pia Ostergaard (St George's)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Lymphedema, hereditary, IC, 613480
- OMIM
- 608803
- Clinvar variants
- Variants in GJC2
- Penetrance
- Complete
- Panels with this gene
-
- Primary lymphoedema
- Adult onset neurodegenerative disorder
- Inherited white matter disorders
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset leukodystrophy
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- Adult onset hereditary spastic paraplegia
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Childhood onset hereditary spastic paraplegia
History Filter Activity
panel promoted to version 1
Richard Scott (Genomics England Curator)Ready for version 1
Set Phenotypes
Richard Scott (Genomics England Curator)Phenotypes for GJC2 were set to Lymphedema, hereditary, IC, 613480
Set Mode of Inheritance
Richard Scott (Genomics England Curator)Mode of inheritance for GJC2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Ellen McDonagh (Genomics England Curator)GJC2 was added to Meiges diseasepanel. Sources: Radboud University Medical Center, Nijmegen
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene GJC2 were set to Leukodystrophy, hypomyelinating, 2, 608804; Spastic paraplegia 44, autosomal recessive, 613206; Lymphedema, hereditary, IC, 613480
Upload gene information
Ellen McDonagh (Genomics England Curator)GJC2 was added to Meiges diseasepanel. Sources: Radboud University Medical Center, Nijmegen
clearsources
Ellen McDonagh (Genomics England Curator)GJC2All sources for gene: GJC2were removed
Upload gene information
Ellen McDonagh (Genomics England Curator)GJC2 was added to Meiges diseasepanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)GJC2 was added to Meiges diseasepanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)GJC2 was added to Meiges diseasepanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)GJC2 was added to Meiges diseasepanel. Sources: Eligibility statement prior genetic testing