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| Neurotransmitter disorders v1.8 | ALDH5A1 | Sarah Leigh edited their review of gene: ALDH5A1: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in numerous cases, together with supportive functional evidence and mouse model.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurotransmitter disorders v1.8 | ALDH5A1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurotransmitter disorders v1.4 | ALDH7A1 |
Zornitza Stark gene: ALDH7A1 was added gene: ALDH7A1 was added to Neurotransmitter disorders. Sources: Expert list Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent, MIM# 266100 Review for gene: ALDH7A1 was set to GREEN gene: ALDH7A1 was marked as current diagnostic Added comment: Well established gene-disease association, condition is considered a disorder of neurotransmitter metabolism by some expert groups: deficiency of antiquitin leads to the buildup of α-aminoadipic semialdehyde, resulting in a disruption in the activity of pyridoxine, which in turn is required for the breakdown of neurotransmitters. Metabolic findings: increased serum and CSF levels of pipecolic acid; increased serum, CSF and urinary levels of alpha-aminoadipic semialdehyde. Treatable disorder. Sources: Expert list |
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| Neurotransmitter disorders v1.4 | PNPO |
Zornitza Stark gene: PNPO was added gene: PNPO was added to Neurotransmitter disorders. Sources: Expert list Mode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPO were set to Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090 Review for gene: PNPO was set to GREEN Added comment: Well established gene-disease association. Pyridoxal 5′-phosphate is a co-factor in the synthesis of dopamine and serotonin. Multiple CSF abnormalities reported including decreased HVA and 5HIAA. Treatable disorder, typically manifesting as neonatal seizures. Sources: Expert list |
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| Neurotransmitter disorders v1.4 | ALDH5A1 |
Zornitza Stark gene: ALDH5A1 was added gene: ALDH5A1 was added to Neurotransmitter disorders. Sources: Expert list Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH5A1 were set to 9683595; 14635103; 32402538 Phenotypes for gene: ALDH5A1 were set to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 Review for gene: ALDH5A1 was set to GREEN gene: ALDH5A1 was marked as current diagnostic Added comment: Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare autosomal recessive neurologic disorder in which an enzyme defect in the GABA degradation pathway causes a consecutive elevation of gamma-hydroxybutyric acid (GHB) and GABA. The clinical features include developmental delay, hypotonia, mental retardation, ataxia, seizures, hyperkinetic behavior, aggression, and sleep disturbances. Over 50 unrelated families reported. Sources: Expert list |
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| Neurotransmitter disorders v1.4 | ABAT | Zornitza Stark edited their review of gene: ABAT: Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurotransmitter disorders v1.4 | ABAT |
Zornitza Stark gene: ABAT was added gene: ABAT was added to Neurotransmitter disorders. Sources: Expert list Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABAT were set to 28411234; 27596361; 20052547; 10407778; 6148708 Phenotypes for gene: ABAT were set to GABA-transaminase deficiency, MIM# 613163 Review for gene: ABAT was set to GREEN Added comment: Over ten families reported. Disorder is is characterised by neonatal or early infantile-onset encephalopathy, hypotonia, hypersomnolence, epilepsy, choreoathetosis, and accelerated linear growth. EEGs show burst-suppression, modified hypsarrhythmia, multifocal spikes, and generalized spike-wave. Severity varies, but most individuals have profound developmental impairment and some die in infancy. Sources: Expert list |
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| Neurotransmitter disorders v1.4 | DDC | Lothar Schlueter reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 28100251, 30952622; Phenotypes: Aromatic L-amino acid decarboxylase deficiency 608643, floppy child, dystonia, hypotonia, developmental delay, oculogyric crisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurotransmitter disorders | TH | Louise Daugherty classified TH as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurotransmitter disorders | TH | Louise Daugherty edited their review of TH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurotransmitter disorders | TH | Louise Daugherty commented on TH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurotransmitter disorders | SPR | Louise Daugherty edited their review of SPR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurotransmitter disorders | PTS | Louise Daugherty edited their review of PTS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurotransmitter disorders | DNAJC12 | Louise Daugherty edited their review of DNAJC12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurotransmitter disorders | DBH | Louise Daugherty edited their review of DBH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurotransmitter disorders | TH | Manju Kurian added TH to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurotransmitter disorders | TH | Manju Kurian reviewed TH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||