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Neurotransmitter disorders v1.9 ALDH5A1 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: ALDH5A1.
Neurotransmitter disorders v1.9 ALDH5A1 Sarah Leigh Classified gene: ALDH5A1 as Green List (high evidence)
Neurotransmitter disorders v1.9 ALDH5A1 Sarah Leigh Gene: aldh5a1 has been classified as Green List (High Evidence).
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 Tag Q2_21_rating tag was added to gene: ALDH5A1.
Neurotransmitter disorders v1.8 ALDH5A1 Sarah Leigh Classified gene: ALDH5A1 as Amber List (moderate evidence)
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 v1.8 ALDH5A1 Sarah Leigh Gene: aldh5a1 has been classified as Amber List (Moderate Evidence).
Neurotransmitter disorders v1.7 ALDH5A1 Sarah Leigh Phenotypes for gene: ALDH5A1 were changed from Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 to Succinic semialdehyde dehydrogenase deficiency OMIM:271980; succinic semialdehyde dehydrogenase deficiency MONDO:0010083
Neurotransmitter disorders v1.6 DDC Arina Puzriakova Phenotypes for gene: DDC were changed from Aromatic L-amino acid decarboxylase deficiency, 608643 to Aromatic L-amino acid decarboxylase deficiency, OMIM:608643; Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
Neurotransmitter disorders v1.5 DDC Arina Puzriakova Publications for gene: DDC were set to 27604308; 24816252; 27830117
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
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
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
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
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 Louise Daugherty promoted panel to version 1
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 classified SPR as green
Neurotransmitter disorders SPR Louise Daugherty edited their review of SPR
Neurotransmitter disorders SPR Louise Daugherty commented on SPR
Neurotransmitter disorders SLC6A3 Louise Daugherty classified SLC6A3 as green
Neurotransmitter disorders SLC6A3 Louise Daugherty commented on SLC6A3
Neurotransmitter disorders SLC18A2 Louise Daugherty classified SLC18A2 as green
Neurotransmitter disorders SLC18A2 Louise Daugherty classified SLC18A2 as amber
Neurotransmitter disorders SLC18A2 Louise Daugherty commented on SLC18A2
Neurotransmitter disorders QDPR Louise Daugherty classified QDPR as green
Neurotransmitter disorders QDPR Louise Daugherty commented on QDPR
Neurotransmitter disorders PTS Louise Daugherty edited their review of PTS
Neurotransmitter disorders PTS Louise Daugherty classified PTS as green
Neurotransmitter disorders PTS Louise Daugherty commented on PTS
Neurotransmitter disorders PITX3 Louise Daugherty classified PITX3 as red
Neurotransmitter disorders PITX3 Louise Daugherty commented on PITX3
Neurotransmitter disorders MAOA Louise Daugherty classified MAOA as green
Neurotransmitter disorders MAOA Louise Daugherty commented on MAOA
Neurotransmitter disorders GCH1 Louise Daugherty classified GCH1 as green
Neurotransmitter disorders GCH1 Louise Daugherty commented on GCH1
Neurotransmitter disorders FOLR1 Louise Daugherty classified FOLR1 as green
Neurotransmitter disorders FOLR1 Louise Daugherty commented on FOLR1
Neurotransmitter disorders DNAJC12 Louise Daugherty classified DNAJC12 as green
Neurotransmitter disorders DNAJC12 Louise Daugherty edited their review of DNAJC12
Neurotransmitter disorders DNAJC12 Louise Daugherty commented on DNAJC12
Neurotransmitter disorders DHFR Louise Daugherty classified DHFR as green
Neurotransmitter disorders DHFR Louise Daugherty commented on DHFR
Neurotransmitter disorders DDC Louise Daugherty classified DDC as green
Neurotransmitter disorders DDC Louise Daugherty commented on DDC
Neurotransmitter disorders DBH Louise Daugherty edited their review of DBH
Neurotransmitter disorders DBH Louise Daugherty classified DBH as green
Neurotransmitter disorders DBH Louise Daugherty commented on DBH
Neurotransmitter disorders PITX3 Manju Kurian added PITX3 to panel
Neurotransmitter disorders PITX3 Manju Kurian reviewed PITX3
Neurotransmitter disorders DNAJC12 Manju Kurian added DNAJC12 to panel
Neurotransmitter disorders DNAJC12 Manju Kurian reviewed DNAJC12
Neurotransmitter disorders DHFR Manju Kurian added DHFR to panel
Neurotransmitter disorders DHFR Manju Kurian reviewed DHFR
Neurotransmitter disorders FOLR1 Manju Kurian added FOLR1 to panel
Neurotransmitter disorders FOLR1 Manju Kurian reviewed FOLR1
Neurotransmitter disorders SLC18A2 Manju Kurian added SLC18A2 to panel
Neurotransmitter disorders SLC18A2 Manju Kurian reviewed SLC18A2
Neurotransmitter disorders SLC6A3 Manju Kurian added SLC6A3 to panel
Neurotransmitter disorders SLC6A3 Manju Kurian reviewed SLC6A3
Neurotransmitter disorders MAOA Manju Kurian added MAOA to panel
Neurotransmitter disorders MAOA Manju Kurian reviewed MAOA
Neurotransmitter disorders DBH Manju Kurian added DBH to panel
Neurotransmitter disorders DBH Manju Kurian reviewed DBH
Neurotransmitter disorders TH Manju Kurian added TH to panel
Neurotransmitter disorders TH Manju Kurian reviewed TH
Neurotransmitter disorders DDC Manju Kurian added DDC to panel
Neurotransmitter disorders DDC Manju Kurian reviewed DDC
Neurotransmitter disorders QDPR Manju Kurian added QDPR to panel
Neurotransmitter disorders QDPR Manju Kurian reviewed QDPR
Neurotransmitter disorders PTS Manju Kurian added PTS to panel
Neurotransmitter disorders PTS Manju Kurian reviewed PTS
Neurotransmitter disorders SPR Manju Kurian added SPR to panel
Neurotransmitter disorders SPR Manju Kurian reviewed SPR
Neurotransmitter disorders GCH1 Manju Kurian added GCH1 to panel
Neurotransmitter disorders GCH1 Manju Kurian reviewed GCH1