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Neurotransmitter Defects v0.53 GPHN Zornitza Stark changed review comment from: Well established gene-disease association, but indirect link to neurotransmitter defects: gephryn interacts with glycine and GABA receptors.; to: Indirect link to neurotransmitter defects: gephryn interacts with glycine and GABA receptors.
Neurotransmitter Defects v0.53 GPHN Zornitza Stark Marked gene: GPHN as ready
Neurotransmitter Defects v0.53 GPHN Zornitza Stark Gene: gphn has been classified as Red List (Low Evidence).
Neurotransmitter Defects v0.53 GPHN Zornitza Stark Phenotypes for gene: GPHN were changed from to Molybdenum cofactor deficiency C, MIM# 615501
Neurotransmitter Defects v0.52 GPHN Zornitza Stark Mode of inheritance for gene: GPHN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.51 GPHN Zornitza Stark Classified gene: GPHN as Red List (low evidence)
Neurotransmitter Defects v0.51 GPHN Zornitza Stark Gene: gphn has been classified as Red List (Low Evidence).
Neurotransmitter Defects v0.50 GPHN Zornitza Stark reviewed gene: GPHN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Molybdenum cofactor deficiency C, MIM# 615501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.0 GPHN Zornitza Stark gene: GPHN was added
gene: GPHN was added to Neurotransmitter Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GPHN was set to Unknown