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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 |