Lymphoedema_syndromic
Gene: GJC2
GJC2 (gap junction protein gamma 2)
EnsemblGeneIds (GRCh38): ENSG00000198835
EnsemblGeneIds (GRCh37): ENSG00000198835
OMIM: 608803, Gene2Phenotype
GJC2 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000198835
EnsemblGeneIds (GRCh37): ENSG00000198835
OMIM: 608803, Gene2Phenotype
GJC2 is in 16 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- London South GLH
- Phenotypes
-
- Lymphedema, hereditary, IC, 613480
- OMIM
- 608803
- Clinvar variants
- Variants in GJC2
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Prepair 1000+
- Hereditary Neuropathy - complex
- Lymphoedema_syndromic
- BabyScreen+ newborn screening
- Lymphoedema_nonsyndromic
- Intellectual disability syndromic and non-syndromic
- Hereditary Spastic Paraplegia - adult onset
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Dystonia - complex
- Mendeliome
- Hereditary Spastic Paraplegia - paediatric
- Ataxia - paediatric
History Filter Activity
29 Jan 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Sue White (Victorian Clinical Genetics Services)gene: GJC2 was added gene: GJC2 was added to Lymphoedema_syndromic. Sources: London South GLH,Radboud University Medical Center, Nijmegen,Expert Review Green Mode of inheritance for gene: GJC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GJC2 were set to Lymphedema, hereditary, IC, 613480