PanelApp (test)
  1. Panels
  2. Neurotransmitter Defects
Description
This panel was developed and is maintained by VCGS.

The panel contains genes associated with neurotransmitter disorders, a heterogeneous group of disorders involving defects in the metabolism of monoamines (dopamine, norepinephrine, epinephrine and serotonin), GABA and glycine. The clinical presentations were highly variable, and may include seizures, neurodevelopmental delay, movement disorders, gait abnormalities, hypotonia, autonomic features. Measurement of neurotransmitter metabolites in cerebral spinal fluid (CSF) may be helpful in delineating the metabolic defects.

This panel has been compared against the Genomics England PanelApp 'Neurotransmitter disorders' panel V1.6 with all discrepancies resolved and reciprocal feedback provided to Genomics England.
Panel Activity

1 reviewer

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

41 Entities

29 reviewed, 36 green

List Entity Reviews Mode of inheritance Details
41 Entitiess
Green Green List (high evidence)
ABAT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • GABA-transaminase deficiency, MIM# 613163
Tags
Green Green List (high evidence)
ALDH5A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Tags
Green Green List (high evidence)
ALDH7A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy, pyridoxine-dependent, MIM# 266100
Tags
  • treatable
Green Green List (high evidence)
DBH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dopamine beta-hydroxylase deficiency, MIM#223360
Tags
Green Green List (high evidence)
DDC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Aromatic L-amino acid decarboxylase deficiency, MIM# 608643
Tags
  • clinical trial
  • treatable
Green Green List (high evidence)
DHFR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839
Tags
Green Green List (high evidence)
DNAJC12
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hyperphenylalaninemia, mild, non-BH4-deficient, MIM# 617384
Tags
Green Green List (high evidence)
FOLR1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068
Tags
Green Green List (high evidence)
GABBR2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Developmental and epileptic encephalopathy, 59 MONDO:0033368
  • Gamma-aminobutyric acid neurotransmitter disorders
Tags
Green Green List (high evidence)
GABRA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 19, MIM# 615744
Tags
Green Green List (high evidence)
GABRB1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Developmental and epileptic encephalopathy, 45 MONDO:0014942
  • Gamma-aminobutyric acid neurotransmitter disorders
Tags
Green Green List (high evidence)
GABRB2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, infantile or early childhood, 2 MONDO:0020631
  • Gamma-aminobutyric acid neurotransmitter disorders
Tags
Green Green List (high evidence)
GABRB3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 43, MIM# 617113
Tags
Green Green List (high evidence)
GABRD
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual disability
  • Epilepsy
  • Susceptibility to epilepsy, MIM#613060
Tags
Green Green List (high evidence)
GABRG2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 74 618396
  • Epilepsy, generalized, with febrile seizures plus, type 3 607681
Tags
Green Green List (high evidence)
GCH1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910
  • Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230
Tags
Green Green List (high evidence)
GLRA1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperekplexia 1, MIM# 149400
Tags
Green Green List (high evidence)
GLRB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperekplexia 2, MIM# 614619
Tags
Green Green List (high evidence)
GRIA3
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Glutamate neurotransmitter disorders
  • X-linked complex neurodevelopmental disorder MONDO:0100148
Tags
Green Green List (high evidence)
GRIA4
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Glutamate neurotransmitter disorders
  • Neurodevelopmental disorder with or without seizures and gait abnormalities MONDO:0060641
Tags
Green Green List (high evidence)
GRIN1
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glutamate neurotransmitter disorders
  • Complex neurodevelopmental disorder MONDO:0100038
Tags
Green Green List (high evidence)
GRIN2A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Glutamate neurotransmitter disorders
  • Complex neurodevelopmental disorder MONDO:0100038
Tags
Green Green List (high evidence)
GRIN2B
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Glutamate neurotransmitter disorders
  • Complex neurodevelopmental disorder MONDO:0100038
Tags
Green Green List (high evidence)
GRIN2D
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Glutamate neurotransmitter disorders
  • Complex neurodevelopmental disorder MONDO:0100038
Tags
Green Green List (high evidence)
GRM1
0 reviews
 BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cerebellar ataxia MONDO:0000437
  • Glutamate neurotransmitter disorders
Tags
Green Green List (high evidence)
MAOA
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Brunner syndrome, MIM# 300615
Tags
Green Green List (high evidence)
PNPO
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090
Tags
Green Green List (high evidence)
PTS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640
Tags
  • treatable
Green Green List (high evidence)
QDPR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630
Tags
  • treatable
Green Green List (high evidence)
SLC18A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Parkinsonism-dystonia, infantile, 2, MIM# 618049
Tags
Green Green List (high evidence)
SLC6A1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Myoclonic-atonic epilepsy MONDO:0014633
Tags
Green Green List (high evidence)
SLC6A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Parkinsonism-dystonia, infantile, 1, MIM# 613135
Tags
Green Green List (high evidence)
SLC6A5
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperekplexia 3, MIM# 614618
Tags
Green Green List (high evidence)
SLC6A9
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Atypical glycine encephalopathy MONDO:0015010
  • Glycine neurotransmitter disorders
Tags
Green Green List (high evidence)
SPR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716
Tags
Green Green List (high evidence)
TH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Segawa syndrome, recessive , MIM#605407
Tags
Amber Amber List (moderate evidence)
PCBD1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070
Tags
Red Red List (low evidence)
ALPL
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypophosphatasia
Tags
Red Red List (low evidence)
ARHGEF9
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 8, MIM# 300607
Tags
Red Red List (low evidence)
GPHN
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Molybdenum cofactor deficiency C, MIM# 615501
Tags
Red Red List (low evidence)
SLC25A22
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 3, MIM# 609304
Tags

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