Likely inborn error of metabolism - targeted testing not possible
Gene: GABRG2
Comment when marking as ready: Associated with phenotypes in OMIM and as a probable Developmental Disorder Gene / G2P for Epilepsy, generalized, with febrile seizures plus, type 3 611277. At least 3 variants reported in at least 3 cases of Epilepsy, generalized, with febrile seizures plus, type 3 611277, together with supportive in vitro studies and at least 2 variants reported in at least two cases of {Epilepsy, childhood absence, susceptibility to, 2} 607681, together with supportive in vitro studies.Created: 23 Jan 2017, 12:36 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRG2 were set to 23708187; 16510738; 15342642; 34957497
Publications for gene: GABRG2 were set to 23708187; 16510738; 15342642; 34957497
Publications for gene: GABRG2 were set to 23708187; 16510738; 15342642; 34957497
Publications for gene: GABRG2 were set to 23708187; 16510738; 15342642; 34957497
Publications for gene: GABRG2 were set to 23708187; 16510738; 15342642; 34957497
Publications for gene: GABRG2 were set to 23708187; 16510738; 15342642; 34957497
Publications for gene: GABRG2 were set to 23708187; 16510738; 15342642
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
gene: GABRG2 was added gene: GABRG2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GABRG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GABRG2 were set to 23708187; 16510738; 15342642 Phenotypes for gene: GABRG2 were set to Febrile seizures, familial, 8 611277; Epilepsy, generalized, with febrile seizures plus, type 3 611277; {Epilepsy, childhood absence, susceptibility to, 2} 607681