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Neurotransmitter Defects v1.7 SLC6A9 Bryony Thompson gene: SLC6A9 was added
gene: SLC6A9 was added to Neurotransmitter Defects. Sources: Expert Review Green
Mode of inheritance for gene: SLC6A9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC6A9 were set to 27481395; 27773429; 14622582; 33269555
Phenotypes for gene: SLC6A9 were set to Atypical glycine encephalopathy MONDO:0015010; Glycine neurotransmitter disorders
Neurotransmitter Defects v1.7 GRM1 Bryony Thompson gene: GRM1 was added
gene: GRM1 was added to Neurotransmitter Defects. Sources: Expert Review Green
Mode of inheritance for gene: GRM1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: GRM1 were set to 26308914; 31319223; 22901947
Phenotypes for gene: GRM1 were set to Cerebellar ataxia MONDO:0000437; Glutamate neurotransmitter disorders
Neurotransmitter Defects v1.7 GRIA4 Bryony Thompson gene: GRIA4 was added
gene: GRIA4 was added to Neurotransmitter Defects. Sources: Expert Review Green
Mode of inheritance for gene: GRIA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRIA4 were set to 35518358; 29220673
Phenotypes for gene: GRIA4 were set to Glutamate neurotransmitter disorders; Neurodevelopmental disorder with or without seizures and gait abnormalities MONDO:0060641
Neurotransmitter Defects v1.7 GRIA3 Bryony Thompson gene: GRIA3 was added
gene: GRIA3 was added to Neurotransmitter Defects. Sources: Expert Review Green
Mode of inheritance for gene: GRIA3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: GRIA3 were set to 38038360
Phenotypes for gene: GRIA3 were set to Glutamate neurotransmitter disorders; X-linked complex neurodevelopmental disorder MONDO:0100148
Neurotransmitter Defects v1.7 GRIN2D Bryony Thompson gene: GRIN2D was added
gene: GRIN2D was added to Neurotransmitter Defects. Sources: Expert Review Green
Mode of inheritance for gene: GRIN2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRIN2D were set to 30280376; 27616483
Phenotypes for gene: GRIN2D were set to Glutamate neurotransmitter disorders; Complex neurodevelopmental disorder MONDO:0100038
Neurotransmitter Defects v1.7 GRIN2B Bryony Thompson gene: GRIN2B was added
gene: GRIN2B was added to Neurotransmitter Defects. Sources: Expert Review Green
Mode of inheritance for gene: GRIN2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRIN2B were set to 28377535
Phenotypes for gene: GRIN2B were set to Glutamate neurotransmitter disorders; Complex neurodevelopmental disorder MONDO:0100038
Neurotransmitter Defects v1.7 GRIN2A Bryony Thompson gene: GRIN2A was added
gene: GRIN2A was added to Neurotransmitter Defects. Sources: Expert Review Green
Mode of inheritance for gene: GRIN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRIN2A were set to 30544257
Phenotypes for gene: GRIN2A were set to Glutamate neurotransmitter disorders; Complex neurodevelopmental disorder MONDO:0100038
Neurotransmitter Defects v1.7 GRIN1 Bryony Thompson gene: GRIN1 was added
gene: GRIN1 was added to Neurotransmitter Defects. Sources: Expert Review Green
Mode of inheritance for gene: GRIN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GRIN1 were set to 29365063; 27164704; 28051072
Phenotypes for gene: GRIN1 were set to Glutamate neurotransmitter disorders; Complex neurodevelopmental disorder MONDO:0100038
Neurotransmitter Defects v1.7 GABBR2 Bryony Thompson gene: GABBR2 was added
gene: GABBR2 was added to Neurotransmitter Defects. Sources: Expert Review Green
Mode of inheritance for gene: GABBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABBR2 were set to 35850019
Phenotypes for gene: GABBR2 were set to Developmental and epileptic encephalopathy, 59 MONDO:0033368; Gamma-aminobutyric acid neurotransmitter disorders
Neurotransmitter Defects v1.7 SLC6A1 Bryony Thompson gene: SLC6A1 was added
gene: SLC6A1 was added to Neurotransmitter Defects. Sources: Expert Review Green
Mode of inheritance for gene: SLC6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC6A1 were set to 34028503
Phenotypes for gene: SLC6A1 were set to Myoclonic-atonic epilepsy MONDO:0014633
Neurotransmitter Defects v1.7 GABRB2 Bryony Thompson gene: GABRB2 was added
gene: GABRB2 was added to Neurotransmitter Defects. Sources: Expert Review Green
Mode of inheritance for gene: GABRB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRB2 were set to 27789573; 35850019; 29100083
Phenotypes for gene: GABRB2 were set to Epileptic encephalopathy, infantile or early childhood, 2 MONDO:0020631; Gamma-aminobutyric acid neurotransmitter disorders
Neurotransmitter Defects v1.7 GABRB1 Bryony Thompson gene: GABRB1 was added
gene: GABRB1 was added to Neurotransmitter Defects. Sources: Expert Review Green
Mode of inheritance for gene: GABRB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRB1 were set to 23934111; 27273810; 35850019; 31618474
Phenotypes for gene: GABRB1 were set to Developmental and epileptic encephalopathy, 45 MONDO:0014942; Gamma-aminobutyric acid neurotransmitter disorders
Neurotransmitter Defects v1.6 Zornitza Stark HPO terms changed from to Abnormal CSF metabolite concentration, HP:0025454
List of related panels changed from to Abnormal CSF metabolite concentration; HP:0025454
Neurotransmitter Defects v1.5 DDC Zornitza Stark Tag treatable tag was added to gene: DDC.
Tag clinical trial tag was added to gene: DDC.
Neurotransmitter Defects v1.5 QDPR Zornitza Stark Tag treatable tag was added to gene: QDPR.
Neurotransmitter Defects v1.5 PTS Zornitza Stark Tag treatable tag was added to gene: PTS.
Neurotransmitter Defects v1.5 ALDH7A1 Zornitza Stark Tag treatable tag was added to gene: ALDH7A1.
Neurotransmitter Defects v1.5 GABRD Zornitza Stark Phenotypes for gene: GABRD were changed from Intellectual disability; Epilepsy; Susceptibility to epilepsy, MIM#613060 to Intellectual disability; Epilepsy; Susceptibility to epilepsy, MIM#613060
Neurotransmitter Defects v1.5 GABRD Zornitza Stark Phenotypes for gene: GABRD were changed from Intellectual disability; Epilepsy; Susceptibility to epilepsy, MIM#613060 to Intellectual disability; Epilepsy; Susceptibility to epilepsy, MIM#613060
Neurotransmitter Defects v1.4 GABRD Zornitza Stark Phenotypes for gene: GABRD were changed from Susceptibility to epilepsy, MIM#613060 to Intellectual disability; Epilepsy; Susceptibility to epilepsy, MIM#613060
Neurotransmitter Defects v1.3 GABRD Zornitza Stark Publications for gene: GABRD were set to 15115768
Neurotransmitter Defects v1.2 GABRD Zornitza Stark Classified gene: GABRD as Green List (high evidence)
Neurotransmitter Defects v1.2 GABRD Zornitza Stark Gene: gabrd has been classified as Green List (High Evidence).
Neurotransmitter Defects v1.1 GABRD Zornitza Stark changed review comment from: Limited reports. The variant originally reported in PMID 15115768 in association with epilepsy is present in >4,000 hets in gnomad and 55 homs which is not consistent with a Mendelian disorder.; to: Susceptibility to epilepsy, MIM#613060: Limited reports. The variant originally reported in PMID 15115768 in association with epilepsy is present in >4,000 hets in gnomad and 55 homs which is not consistent with a Mendelian disorder.
Neurotransmitter Defects v1.1 GABRD Zornitza Stark edited their review of gene: GABRD: Added comment: 10 individuals with 7 unique variants reported in individuals with neurodevelopmental disorders and epilepsy. Six of the variants were demonstrated to be GoF, and those individuals with neurodevelopmental disorders with behavioural issues, various degrees of intellectual disability, generalized epilepsy with atypical absences and generalized myoclonic and/or bilateral tonic-clonic seizures. In contrast, the one individual carrying a loss-of-function variant had normal intelligence, no seizure history but has a diagnosis of autism spectrum disorder and suffering from elevated internalizing psychiatric symptoms.; Changed rating: GREEN; Changed publications: 15115768, 34633442; Changed phenotypes: Intellectual disability, Epilepsy, Susceptibility to epilepsy, MIM#613060
Neurotransmitter Defects v1.0 Zornitza Stark promoted panel to version 1.0
Neurotransmitter Defects v0.87 GABRD Zornitza Stark Marked gene: GABRD as ready
Neurotransmitter Defects v0.87 GABRD Zornitza Stark Gene: gabrd has been classified as Red List (Low Evidence).
Neurotransmitter Defects v0.87 GABRD Zornitza Stark Phenotypes for gene: GABRD were changed from to Susceptibility to epilepsy, MIM#613060
Neurotransmitter Defects v0.86 GABRD Zornitza Stark Publications for gene: GABRD were set to
Neurotransmitter Defects v0.85 GABRD Zornitza Stark Mode of inheritance for gene: GABRD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurotransmitter Defects v0.84 GABRD Zornitza Stark Classified gene: GABRD as Red List (low evidence)
Neurotransmitter Defects v0.84 GABRD Zornitza Stark Gene: gabrd has been classified as Red List (Low Evidence).
Neurotransmitter Defects v0.83 GABRD Zornitza Stark reviewed gene: GABRD: Rating: RED; Mode of pathogenicity: None; Publications: 15115768; Phenotypes: Susceptibility to epilepsy, MIM#613060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurotransmitter Defects v0.83 QDPR Zornitza Stark Marked gene: QDPR as ready
Neurotransmitter Defects v0.83 QDPR Zornitza Stark Gene: qdpr has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.83 QDPR Zornitza Stark Phenotypes for gene: QDPR were changed from to Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630
Neurotransmitter Defects v0.82 QDPR Zornitza Stark Publications for gene: QDPR were set to
Neurotransmitter Defects v0.81 QDPR Zornitza Stark Mode of inheritance for gene: QDPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.80 QDPR Zornitza Stark reviewed gene: QDPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 11153907; Phenotypes: Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.80 GLRA1 Zornitza Stark Marked gene: GLRA1 as ready
Neurotransmitter Defects v0.80 GLRA1 Zornitza Stark Gene: glra1 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.80 TH Zornitza Stark Marked gene: TH as ready
Neurotransmitter Defects v0.80 TH Zornitza Stark Gene: th has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.80 TH Zornitza Stark Phenotypes for gene: TH were changed from to Segawa syndrome, recessive , MIM#605407
Neurotransmitter Defects v0.79 TH Zornitza Stark Publications for gene: TH were set to
Neurotransmitter Defects v0.78 TH Zornitza Stark Mode of inheritance for gene: TH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.77 TH Zornitza Stark reviewed gene: TH: Rating: GREEN; Mode of pathogenicity: None; Publications: 17696123, 11246459, 10585338; Phenotypes: Segawa syndrome, recessive , MIM#605407; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.77 SPR Zornitza Stark Marked gene: SPR as ready
Neurotransmitter Defects v0.77 SPR Zornitza Stark Gene: spr has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.77 SPR Zornitza Stark Phenotypes for gene: SPR were changed from to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716
Neurotransmitter Defects v0.76 SPR Zornitza Stark Publications for gene: SPR were set to
Neurotransmitter Defects v0.75 SPR Zornitza Stark Mode of inheritance for gene: SPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.74 SPR Zornitza Stark reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 22522443; Phenotypes: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.74 SLC6A5 Zornitza Stark Marked gene: SLC6A5 as ready
Neurotransmitter Defects v0.74 SLC6A5 Zornitza Stark Gene: slc6a5 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.74 SLC6A5 Zornitza Stark Phenotypes for gene: SLC6A5 were changed from to Hyperekplexia 3, MIM# 614618
Neurotransmitter Defects v0.73 SLC6A5 Zornitza Stark Publications for gene: SLC6A5 were set to
Neurotransmitter Defects v0.72 SLC6A5 Zornitza Stark Mode of inheritance for gene: SLC6A5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurotransmitter Defects v0.71 SLC6A5 Zornitza Stark reviewed gene: SLC6A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 16751771; Phenotypes: Hyperekplexia 3, MIM# 614618; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurotransmitter Defects v0.71 SLC6A3 Zornitza Stark Marked gene: SLC6A3 as ready
Neurotransmitter Defects v0.71 SLC6A3 Zornitza Stark Gene: slc6a3 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.71 SLC6A3 Zornitza Stark Phenotypes for gene: SLC6A3 were changed from to Parkinsonism-dystonia, infantile, 1, MIM# 613135
Neurotransmitter Defects v0.70 SLC6A3 Zornitza Stark Publications for gene: SLC6A3 were set to
Neurotransmitter Defects v0.69 SLC6A3 Zornitza Stark Mode of inheritance for gene: SLC6A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.68 SLC6A3 Zornitza Stark reviewed gene: SLC6A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21112253; Phenotypes: Parkinsonism-dystonia, infantile, 1, MIM# 613135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.68 SLC25A22 Zornitza Stark Marked gene: SLC25A22 as ready
Neurotransmitter Defects v0.68 SLC25A22 Zornitza Stark Gene: slc25a22 has been classified as Red List (Low Evidence).
Neurotransmitter Defects v0.68 SLC25A22 Zornitza Stark Phenotypes for gene: SLC25A22 were changed from to Epileptic encephalopathy, early infantile, 3, MIM# 609304
Neurotransmitter Defects v0.67 SLC25A22 Zornitza Stark Mode of inheritance for gene: SLC25A22 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.66 SLC25A22 Zornitza Stark Classified gene: SLC25A22 as Red List (low evidence)
Neurotransmitter Defects v0.66 SLC25A22 Zornitza Stark Gene: slc25a22 has been classified as Red List (Low Evidence).
Neurotransmitter Defects v0.65 SLC25A22 Zornitza Stark reviewed gene: SLC25A22: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 3, MIM# 609304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.65 PTS Zornitza Stark Marked gene: PTS as ready
Neurotransmitter Defects v0.65 PTS Zornitza Stark Gene: pts has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.65 PTS Zornitza Stark Phenotypes for gene: PTS were changed from to Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640
Neurotransmitter Defects v0.64 PTS Zornitza Stark Publications for gene: PTS were set to
Neurotransmitter Defects v0.63 PTS Zornitza Stark Mode of inheritance for gene: PTS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.62 PTS Zornitza Stark reviewed gene: PTS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9222755; Phenotypes: Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.62 PNPO Zornitza Stark Marked gene: PNPO as ready
Neurotransmitter Defects v0.62 PNPO Zornitza Stark Gene: pnpo has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.62 PNPO Zornitza Stark Phenotypes for gene: PNPO were changed from to Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090
Neurotransmitter Defects v0.61 PNPO Zornitza Stark Mode of inheritance for gene: PNPO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.60 PNPO Zornitza Stark reviewed gene: PNPO: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.60 PCBD1 Zornitza Stark Marked gene: PCBD1 as ready
Neurotransmitter Defects v0.60 PCBD1 Zornitza Stark Gene: pcbd1 has been classified as Amber List (Moderate Evidence).
Neurotransmitter Defects v0.60 PCBD1 Zornitza Stark Phenotypes for gene: PCBD1 were changed from to Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070
Neurotransmitter Defects v0.59 PCBD1 Zornitza Stark Publications for gene: PCBD1 were set to
Neurotransmitter Defects v0.58 PCBD1 Zornitza Stark Mode of inheritance for gene: PCBD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.57 PCBD1 Zornitza Stark Classified gene: PCBD1 as Amber List (moderate evidence)
Neurotransmitter Defects v0.57 PCBD1 Zornitza Stark Gene: pcbd1 has been classified as Amber List (Moderate Evidence).
Neurotransmitter Defects v0.56 PCBD1 Zornitza Stark reviewed gene: PCBD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 9585615; Phenotypes: Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.56 MAOA Zornitza Stark Marked gene: MAOA as ready
Neurotransmitter Defects v0.56 MAOA Zornitza Stark Gene: maoa has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.56 MAOA Zornitza Stark Phenotypes for gene: MAOA were changed from to Brunner syndrome, MIM# 300615
Neurotransmitter Defects v0.55 MAOA Zornitza Stark Publications for gene: MAOA were set to
Neurotransmitter Defects v0.54 MAOA Zornitza Stark Mode of inheritance for gene: MAOA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Neurotransmitter Defects v0.53 MAOA Zornitza Stark reviewed gene: MAOA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25807999, 24169519; Phenotypes: Brunner syndrome, MIM# 300615; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
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 v0.50 GLRB Zornitza Stark Publications for gene: GLRB were set to 21391991; 11929858
Neurotransmitter Defects v0.49 GLRB Zornitza Stark edited their review of gene: GLRB: Changed publications: 21391991, 11929858, 27843043
Neurotransmitter Defects v0.49 GLRB Zornitza Stark Marked gene: GLRB as ready
Neurotransmitter Defects v0.49 GLRB Zornitza Stark Gene: glrb has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.49 GLRB Zornitza Stark Phenotypes for gene: GLRB were changed from to Hyperekplexia 2, MIM# 614619
Neurotransmitter Defects v0.48 GLRB Zornitza Stark Publications for gene: GLRB were set to
Neurotransmitter Defects v0.47 GLRB Zornitza Stark Mode of inheritance for gene: GLRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.46 GLRB Zornitza Stark reviewed gene: GLRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 21391991, 11929858; Phenotypes: Hyperekplexia 2, MIM# 614619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.46 GLRA1 Zornitza Stark Phenotypes for gene: GLRA1 were changed from to Hyperekplexia 1, MIM# 149400
Neurotransmitter Defects v0.45 GLRA1 Zornitza Stark Publications for gene: GLRA1 were set to
Neurotransmitter Defects v0.44 GLRA1 Zornitza Stark Mode of inheritance for gene: GLRA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurotransmitter Defects v0.43 GLRA1 Zornitza Stark reviewed gene: GLRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8298642, 16832093; Phenotypes: Hyperekplexia 1, MIM# 149400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurotransmitter Defects v0.43 GCH1 Zornitza Stark Marked gene: GCH1 as ready
Neurotransmitter Defects v0.43 GCH1 Zornitza Stark Gene: gch1 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.43 GCH1 Zornitza Stark Phenotypes for gene: GCH1 were changed from to Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230
Neurotransmitter Defects v0.42 GCH1 Zornitza Stark Mode of inheritance for gene: GCH1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurotransmitter Defects v0.41 GCH1 Zornitza Stark reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurotransmitter Defects v0.41 GABRG2 Zornitza Stark Marked gene: GABRG2 as ready
Neurotransmitter Defects v0.41 GABRG2 Zornitza Stark Gene: gabrg2 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.41 GABRG2 Zornitza Stark Phenotypes for gene: GABRG2 were changed from to Epileptic encephalopathy, early infantile, 74 618396; Epilepsy, generalized, with febrile seizures plus, type 3 607681
Neurotransmitter Defects v0.40 GABRG2 Zornitza Stark Publications for gene: GABRG2 were set to
Neurotransmitter Defects v0.39 GABRG2 Zornitza Stark Mode of inheritance for gene: GABRG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurotransmitter Defects v0.38 GABRG2 Zornitza Stark reviewed gene: GABRG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11326274, 11326275, 27864268; Phenotypes: Epileptic encephalopathy, early infantile, 74 618396, Epilepsy, generalized, with febrile seizures plus, type 3 607681; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurotransmitter Defects v0.38 GABRB3 Zornitza Stark changed review comment from: GABA receptor. Multiple unrelated families reported.; to: GABA receptor. Multiple unrelated families reported. Onset of multiple seizures types within the first year of life, and variable intellectual disability.
Neurotransmitter Defects v0.38 GABRB3 Zornitza Stark Marked gene: GABRB3 as ready
Neurotransmitter Defects v0.38 GABRB3 Zornitza Stark Gene: gabrb3 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.38 GABRB3 Zornitza Stark Phenotypes for gene: GABRB3 were changed from to Epileptic encephalopathy, early infantile, 43, MIM# 617113
Neurotransmitter Defects v0.37 GABRB3 Zornitza Stark Publications for gene: GABRB3 were set to
Neurotransmitter Defects v0.36 GABRB3 Zornitza Stark Mode of inheritance for gene: GABRB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurotransmitter Defects v0.35 GABRB3 Zornitza Stark reviewed gene: GABRB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23934111, 27476654; Phenotypes: Epileptic encephalopathy, early infantile, 43, MIM# 617113; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurotransmitter Defects v0.35 GABRA1 Zornitza Stark Marked gene: GABRA1 as ready
Neurotransmitter Defects v0.35 GABRA1 Zornitza Stark Gene: gabra1 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.35 GABRA1 Zornitza Stark Phenotypes for gene: GABRA1 were changed from to Epileptic encephalopathy, early infantile, 19, MIM# 615744
Neurotransmitter Defects v0.34 GABRA1 Zornitza Stark Publications for gene: GABRA1 were set to
Neurotransmitter Defects v0.33 GABRA1 Zornitza Stark Mode of inheritance for gene: GABRA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurotransmitter Defects v0.32 GABRA1 Zornitza Stark reviewed gene: GABRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24623842; Phenotypes: Epileptic encephalopathy, early infantile, 19, MIM# 615744; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurotransmitter Defects v0.32 FOLR1 Zornitza Stark Marked gene: FOLR1 as ready
Neurotransmitter Defects v0.32 FOLR1 Zornitza Stark Gene: folr1 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.32 FOLR1 Zornitza Stark Classified gene: FOLR1 as Green List (high evidence)
Neurotransmitter Defects v0.32 FOLR1 Zornitza Stark Gene: folr1 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.31 FOLR1 Zornitza Stark changed review comment from: Folate is a neurotransmitter precursor. Treatable condition.
Sources: Expert list; to: Folate is a neurotransmitter precursor. Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Recognition and diagnosis of this disorder is critical because folinic acid therapy can reverse the clinical symptoms and improve brain abnormalities and function.
Sources: Expert list
Neurotransmitter Defects v0.31 FOLR1 Zornitza Stark gene: FOLR1 was added
gene: FOLR1 was added to Neurotransmitter Defects. Sources: Expert list
Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOLR1 were set to 19732866; 30420205; 27743887
Phenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068
Review for gene: FOLR1 was set to GREEN
Added comment: Folate is a neurotransmitter precursor. Treatable condition.
Sources: Expert list
Neurotransmitter Defects v0.30 DNAJC12 Zornitza Stark Marked gene: DNAJC12 as ready
Neurotransmitter Defects v0.30 DNAJC12 Zornitza Stark Gene: dnajc12 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.30 DNAJC12 Zornitza Stark Classified gene: DNAJC12 as Green List (high evidence)
Neurotransmitter Defects v0.30 DNAJC12 Zornitza Stark Gene: dnajc12 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.29 DNAJC12 Zornitza Stark gene: DNAJC12 was added
gene: DNAJC12 was added to Neurotransmitter Defects. Sources: Expert list
Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC12 were set to 28132689; 30139987; 28892570
Phenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, MIM# 617384
Review for gene: DNAJC12 was set to GREEN
Added comment: Over 10 families reported with non-BH4-deficient hyperphenylalaninemia (HPANBH4), an autosomal recessive disorder characterised by increased serum phenylalanine (HPA) usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities, such as dystonia, and variably impaired intellectual development. Laboratory analysis shows dopamine and serotonin deficiencies in the CSF, and normal tetrahydrobiopterin (BH4) metabolism. Treatment with BH4 and neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy. Can present with juvenile- or adult-onset dopa-responsive nonprogressive parkinsonism.
Sources: Expert list
Neurotransmitter Defects v0.28 DHFR Zornitza Stark Marked gene: DHFR as ready
Neurotransmitter Defects v0.28 DHFR Zornitza Stark Gene: dhfr has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.28 DHFR Zornitza Stark Classified gene: DHFR as Green List (high evidence)
Neurotransmitter Defects v0.28 DHFR Zornitza Stark Gene: dhfr has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.27 DHFR Zornitza Stark gene: DHFR was added
gene: DHFR was added to Neurotransmitter Defects. Sources: Expert list
Mode of inheritance for gene: DHFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHFR were set to 21310276; 21310277
Phenotypes for gene: DHFR were set to Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839
Review for gene: DHFR was set to GREEN
Added comment: Dihydrofolate reductase deficiency is an autosomal recessive metabolic disorder characterized by the haematologic findings of megaloblastic anaemia and variable neurologic symptoms, ranging from severe developmental delay and generalised seizures in infancy to childhood absence epilepsy with learning difficulties to lack of symptoms. CSF shows markedly decreased 5-methyltetrahydrofolate (5-MTHF) and low tetrahydrobiopterin (BH4), the latter a cofactor required for the synthesis of dopamine and serotonin.
Sources: Expert list
Neurotransmitter Defects v0.26 DDC Zornitza Stark Marked gene: DDC as ready
Neurotransmitter Defects v0.26 DDC Zornitza Stark Gene: ddc has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.26 DDC Zornitza Stark Phenotypes for gene: DDC were changed from to Aromatic L-amino acid decarboxylase deficiency, MIM# 608643
Neurotransmitter Defects v0.25 DDC Zornitza Stark Publications for gene: DDC were set to
Neurotransmitter Defects v0.24 DDC Zornitza Stark Mode of inheritance for gene: DDC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.23 DDC Zornitza Stark reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20505134; Phenotypes: Aromatic L-amino acid decarboxylase deficiency, MIM# 608643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.23 DBH Zornitza Stark Marked gene: DBH as ready
Neurotransmitter Defects v0.23 DBH Zornitza Stark Gene: dbh has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.23 DBH Zornitza Stark Phenotypes for gene: DBH were changed from to Dopamine beta-hydroxylase deficiency, MIM#223360
Neurotransmitter Defects v0.22 DBH Zornitza Stark Publications for gene: DBH were set to
Neurotransmitter Defects v0.21 DBH Zornitza Stark Mode of inheritance for gene: DBH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.20 DBH Zornitza Stark reviewed gene: DBH: Rating: GREEN; Mode of pathogenicity: None; Publications: 11857564; Phenotypes: Dopamine beta-hydroxylase deficiency, MIM#223360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.19 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Neurotransmitter Defects v0.18 ARHGEF9 Zornitza Stark Marked gene: ARHGEF9 as ready
Neurotransmitter Defects v0.18 ARHGEF9 Zornitza Stark Gene: arhgef9 has been classified as Red List (Low Evidence).
Neurotransmitter Defects v0.18 ARHGEF9 Zornitza Stark Phenotypes for gene: ARHGEF9 were changed from to Epileptic encephalopathy, early infantile, 8, MIM# 300607
Neurotransmitter Defects v0.17 ARHGEF9 Zornitza Stark Publications for gene: ARHGEF9 were set to
Neurotransmitter Defects v0.16 ARHGEF9 Zornitza Stark Mode of inheritance for gene: ARHGEF9 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Neurotransmitter Defects v0.15 ARHGEF9 Zornitza Stark Classified gene: ARHGEF9 as Red List (low evidence)
Neurotransmitter Defects v0.15 ARHGEF9 Zornitza Stark Gene: arhgef9 has been classified as Red List (Low Evidence).
Neurotransmitter Defects v0.14 ARHGEF9 Zornitza Stark reviewed gene: ARHGEF9: Rating: RED; Mode of pathogenicity: None; Publications: 31942680, 30048823, 29130122, 28620718; Phenotypes: Epileptic encephalopathy, early infantile, 8, MIM# 300607; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Neurotransmitter Defects v0.14 ALPL Zornitza Stark Marked gene: ALPL as ready
Neurotransmitter Defects v0.14 ALPL Zornitza Stark Gene: alpl has been classified as Red List (Low Evidence).
Neurotransmitter Defects v0.14 ALPL Zornitza Stark Phenotypes for gene: ALPL were changed from to Hypophosphatasia
Neurotransmitter Defects v0.13 ALPL Zornitza Stark Mode of inheritance for gene: ALPL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurotransmitter Defects v0.12 ALPL Zornitza Stark Classified gene: ALPL as Red List (low evidence)
Neurotransmitter Defects v0.12 ALPL Zornitza Stark Gene: alpl has been classified as Red List (Low Evidence).
Neurotransmitter Defects v0.11 ALPL Zornitza Stark reviewed gene: ALPL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypophosphatasia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurotransmitter Defects v0.11 ALDH7A1 Zornitza Stark Marked gene: ALDH7A1 as ready
Neurotransmitter Defects v0.11 ALDH7A1 Zornitza Stark Gene: aldh7a1 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.11 ALDH7A1 Zornitza Stark Phenotypes for gene: ALDH7A1 were changed from to Epilepsy, pyridoxine-dependent, MIM# 266100
Neurotransmitter Defects v0.10 ALDH7A1 Zornitza Stark Mode of inheritance for gene: ALDH7A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.9 ALDH7A1 Zornitza Stark reviewed gene: ALDH7A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, pyridoxine-dependent, MIM# 266100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.9 ALDH5A1 Zornitza Stark Marked gene: ALDH5A1 as ready
Neurotransmitter Defects v0.9 ALDH5A1 Zornitza Stark Gene: aldh5a1 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.9 ALDH5A1 Zornitza Stark Phenotypes for gene: ALDH5A1 were changed from to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Neurotransmitter Defects v0.8 ALDH5A1 Zornitza Stark Publications for gene: ALDH5A1 were set to
Neurotransmitter Defects v0.7 ALDH5A1 Zornitza Stark Mode of inheritance for gene: ALDH5A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.6 ALDH5A1 Zornitza Stark reviewed gene: ALDH5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9683595, 14635103, 32402538; Phenotypes: Succinic semialdehyde dehydrogenase deficiency, MIM# 271980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.6 ABAT Zornitza Stark Marked gene: ABAT as ready
Neurotransmitter Defects v0.6 ABAT Zornitza Stark Gene: abat has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.6 ABAT Zornitza Stark Phenotypes for gene: ABAT were changed from to GABA-transaminase deficiency, MIM# 613163
Neurotransmitter Defects v0.5 ABAT Zornitza Stark Publications for gene: ABAT were set to
Neurotransmitter Defects v0.4 ABAT Zornitza Stark Mode of inheritance for gene: ABAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.3 ABAT Zornitza Stark reviewed gene: ABAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 28411234, 27596361, 20052547, 10407778, 6148708; Phenotypes: GABA-transaminase deficiency, MIM# 613163; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.3 SLC18A2 Zornitza Stark Marked gene: SLC18A2 as ready
Neurotransmitter Defects v0.3 SLC18A2 Zornitza Stark Gene: slc18a2 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.3 SLC18A2 Zornitza Stark Classified gene: SLC18A2 as Green List (high evidence)
Neurotransmitter Defects v0.3 SLC18A2 Zornitza Stark Gene: slc18a2 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.2 SLC18A2 Zornitza Stark gene: SLC18A2 was added
gene: SLC18A2 was added to Neurotransmitter Defects. Sources: Expert Review
Mode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC18A2 were set to 23363473; 31240161; 26497564; 9427250; 11463816; 9427251
Phenotypes for gene: SLC18A2 were set to Parkinsonism-dystonia, infantile, 2, MIM# 618049
Review for gene: SLC18A2 was set to GREEN
Added comment: At least three unrelated families reported, potential treatment implications. Associated with intellectual disability and epilepsy as well as prominent movement disorder. Three mouse models.
Sources: Expert Review
Neurotransmitter Defects v0.1 Zornitza Stark Panel name changed from Neurotransmitter Defect_VCGS to Neurotransmitter Defects
Panel types changed to Victorian Clinical Genetics Services
Neurotransmitter Defects v0.0 TH Zornitza Stark gene: TH was added
gene: TH was added to Neurotransmitter Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TH was set to Unknown
Neurotransmitter Defects v0.0 SPR Zornitza Stark gene: SPR was added
gene: SPR was added to Neurotransmitter Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SPR was set to Unknown
Neurotransmitter Defects v0.0 SLC6A5 Zornitza Stark gene: SLC6A5 was added
gene: SLC6A5 was added to Neurotransmitter Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC6A5 was set to Unknown
Neurotransmitter Defects v0.0 SLC6A3 Zornitza Stark gene: SLC6A3 was added
gene: SLC6A3 was added to Neurotransmitter Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC6A3 was set to Unknown
Neurotransmitter Defects v0.0 SLC25A22 Zornitza Stark gene: SLC25A22 was added
gene: SLC25A22 was added to Neurotransmitter Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A22 was set to Unknown
Neurotransmitter Defects v0.0 QDPR Zornitza Stark gene: QDPR was added
gene: QDPR was added to Neurotransmitter Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: QDPR was set to Unknown
Neurotransmitter Defects v0.0 PTS Zornitza Stark gene: PTS was added
gene: PTS was added to Neurotransmitter Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PTS was set to Unknown
Neurotransmitter Defects v0.0 PNPO Zornitza Stark gene: PNPO was added
gene: PNPO was added to Neurotransmitter Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PNPO was set to Unknown
Neurotransmitter Defects v0.0 PCBD1 Zornitza Stark gene: PCBD1 was added
gene: PCBD1 was added to Neurotransmitter Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PCBD1 was set to Unknown
Neurotransmitter Defects v0.0 MAOA Zornitza Stark gene: MAOA was added
gene: MAOA was added to Neurotransmitter Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MAOA was set to Unknown
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
Neurotransmitter Defects v0.0 GLRB Zornitza Stark gene: GLRB was added
gene: GLRB was added to Neurotransmitter Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLRB was set to Unknown
Neurotransmitter Defects v0.0 GLRA1 Zornitza Stark gene: GLRA1 was added
gene: GLRA1 was added to Neurotransmitter Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLRA1 was set to Unknown
Neurotransmitter Defects v0.0 GCH1 Zornitza Stark gene: GCH1 was added
gene: GCH1 was added to Neurotransmitter Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GCH1 was set to Unknown
Neurotransmitter Defects v0.0 GABRG2 Zornitza Stark gene: GABRG2 was added
gene: GABRG2 was added to Neurotransmitter Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GABRG2 was set to Unknown
Neurotransmitter Defects v0.0 GABRD Zornitza Stark gene: GABRD was added
gene: GABRD was added to Neurotransmitter Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GABRD was set to Unknown
Neurotransmitter Defects v0.0 GABRB3 Zornitza Stark gene: GABRB3 was added
gene: GABRB3 was added to Neurotransmitter Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GABRB3 was set to Unknown
Neurotransmitter Defects v0.0 GABRA1 Zornitza Stark gene: GABRA1 was added
gene: GABRA1 was added to Neurotransmitter Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GABRA1 was set to Unknown
Neurotransmitter Defects v0.0 DDC Zornitza Stark gene: DDC was added
gene: DDC was added to Neurotransmitter Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DDC was set to Unknown
Neurotransmitter Defects v0.0 DBH Zornitza Stark gene: DBH was added
gene: DBH was added to Neurotransmitter Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DBH was set to Unknown
Neurotransmitter Defects v0.0 ARHGEF9 Zornitza Stark gene: ARHGEF9 was added
gene: ARHGEF9 was added to Neurotransmitter Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARHGEF9 was set to Unknown
Neurotransmitter Defects v0.0 ALPL Zornitza Stark gene: ALPL was added
gene: ALPL was added to Neurotransmitter Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALPL was set to Unknown
Neurotransmitter Defects v0.0 ALDH7A1 Zornitza Stark gene: ALDH7A1 was added
gene: ALDH7A1 was added to Neurotransmitter Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALDH7A1 was set to Unknown
Neurotransmitter Defects v0.0 ALDH5A1 Zornitza Stark gene: ALDH5A1 was added
gene: ALDH5A1 was added to Neurotransmitter Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALDH5A1 was set to Unknown
Neurotransmitter Defects v0.0 ABAT Zornitza Stark gene: ABAT was added
gene: ABAT was added to Neurotransmitter Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ABAT was set to Unknown
Neurotransmitter Defects v0.0 Zornitza Stark Added panel Neurotransmitter Defect_VCGS