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Hyperammonaemia v0.10 SLC25A36 Zornitza Stark Marked gene: SLC25A36 as ready
Hyperammonaemia v0.10 SLC25A36 Zornitza Stark Gene: slc25a36 has been classified as Green List (High Evidence).
Hyperammonaemia v0.10 SLC25A36 Zornitza Stark Classified gene: SLC25A36 as Green List (high evidence)
Hyperammonaemia v0.10 SLC25A36 Zornitza Stark Gene: slc25a36 has been classified as Green List (High Evidence).
Hyperammonaemia v0.9 SLC25A36 Krithika Murali gene: SLC25A36 was added
gene: SLC25A36 was added to Hyperammonaemia. Sources: Literature
Mode of inheritance for gene: SLC25A36 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A36 were set to 34971397; 34576089; 31036718
Phenotypes for gene: SLC25A36 were set to Hyperinsulinemic hypoglycemia, familial, 8 - MIM#620211
Review for gene: SLC25A36 was set to GREEN
Added comment: Solute carrier family 25 members 33 (SLC25A33) and 36 (SLC25A36) are the only known mitochondrial pyrimidine nucleotide carriers in humans

PMID: 34971397 Sharoor et al 2022 report 2 siblings with hyperinsulinism, hypoglycemia and hyperammonemia from early infancy with homozygous SLC25A36 c.284 + 3 A > T variant identified through WES. Functional studies support LoF.

PMID: 34576089 report a 12-year-old patient with hypothyroidism, hyperinsulinism, hyperammonemia, chronical obstipation, short stature, along with language and general developmental delay. WES identified SLC25A36 gene homozygous c.803dupT, p.Ser269llefs*35 variant. Functional analysis of mutant SLC25A36 protein in proteoliposomes showed a virtually abolished transport activity. Immunoblotting results suggest that the mutant SLC25A36 protein in the patient undergoes fast degradation. Supplementation with uridine lead to some improvement in clinical course.

PMID: 31036718 deficiencies in SLC25A36 in mouse embryonic stem cells have been associated with mtDNA depletion as well as mitochondrial dysfunction
Sources: Literature
Hyperammonaemia v0.9 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Hyperammonaemia v0.7 Zornitza Stark HPO terms changed from to Hyperammonaemia, HP:0001987
List of related panels changed from to Hyperammonaemia; HP:0001987
Hyperammonaemia v0.6 CPS1 Zornitza Stark Tag treatable tag was added to gene: CPS1.
Hyperammonaemia v0.6 MLYCD Zornitza Stark Tag treatable tag was added to gene: MLYCD.
Hyperammonaemia v0.6 ASL Zornitza Stark Tag treatable tag was added to gene: ASL.
Hyperammonaemia v0.6 ARG1 Zornitza Stark Tag treatable tag was added to gene: ARG1.
Hyperammonaemia v0.6 ACADVL Zornitza Stark Tag treatable tag was added to gene: ACADVL.
Hyperammonaemia v0.6 PCCB Zornitza Stark Tag treatable tag was added to gene: PCCB.
Hyperammonaemia v0.6 PCCA Zornitza Stark Tag treatable tag was added to gene: PCCA.
Hyperammonaemia v0.6 ETFB Zornitza Stark Tag treatable tag was added to gene: ETFB.
Hyperammonaemia v0.6 ETFA Zornitza Stark Tag treatable tag was added to gene: ETFA.
Hyperammonaemia v0.6 ETFDH Zornitza Stark Tag treatable tag was added to gene: ETFDH.
Hyperammonaemia v0.6 HADHB Zornitza Stark Tag treatable tag was added to gene: HADHB.
Hyperammonaemia v0.6 HADHA Zornitza Stark Tag treatable tag was added to gene: HADHA.
Hyperammonaemia v0.6 MMAB Zornitza Stark Tag treatable tag was added to gene: MMAB.
Hyperammonaemia v0.6 MMAA Zornitza Stark Tag treatable tag was added to gene: MMAA.
Hyperammonaemia v0.6 ACADM Zornitza Stark Tag treatable tag was added to gene: ACADM.
Hyperammonaemia v0.6 IVD Zornitza Stark Tag treatable tag was added to gene: IVD.
Hyperammonaemia v0.6 HLCS Zornitza Stark Tag treatable tag was added to gene: HLCS.
Hyperammonaemia v0.6 SLC25A20 Zornitza Stark Tag treatable tag was added to gene: SLC25A20.
Hyperammonaemia v0.6 CPT2 Zornitza Stark Marked gene: CPT2 as ready
Hyperammonaemia v0.6 CPT2 Zornitza Stark Gene: cpt2 has been classified as Green List (High Evidence).
Hyperammonaemia v0.6 CPT2 Zornitza Stark Tag treatable tag was added to gene: CPT2.
Hyperammonaemia v0.6 CPT1A Zornitza Stark Tag treatable tag was added to gene: CPT1A.
Hyperammonaemia v0.6 BCKDHB Zornitza Stark Tag treatable tag was added to gene: BCKDHB.
Hyperammonaemia v0.6 BCKDHA Zornitza Stark Tag treatable tag was added to gene: BCKDHA.
Hyperammonaemia v0.6 DBT Zornitza Stark Marked gene: DBT as ready
Hyperammonaemia v0.6 DBT Zornitza Stark Gene: dbt has been classified as Green List (High Evidence).
Hyperammonaemia v0.6 DBT Zornitza Stark Tag treatable tag was added to gene: DBT.
Hyperammonaemia v0.6 HMGCL Zornitza Stark Tag treatable tag was added to gene: HMGCL.
Hyperammonaemia v0.6 ASS1 Zornitza Stark Tag treatable tag was added to gene: ASS1.
Hyperammonaemia v0.6 OAT Zornitza Stark Marked gene: OAT as ready
Hyperammonaemia v0.6 OAT Zornitza Stark Gene: oat has been classified as Red List (Low Evidence).
Hyperammonaemia v0.6 OAT Zornitza Stark Publications for gene: OAT were set to
Hyperammonaemia v0.5 OAT Zornitza Stark Classified gene: OAT as Red List (low evidence)
Hyperammonaemia v0.5 OAT Zornitza Stark Gene: oat has been classified as Red List (Low Evidence).
Hyperammonaemia v0.4 OAT Krithika Murali reviewed gene: OAT: Rating: RED; Mode of pathogenicity: None; Publications: 33068755, 1618792, 2220818, 3339136, 3417397, 2916581, 1737786, 33463379; Phenotypes: Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#258870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia v0.4 IVD Zornitza Stark Marked gene: IVD as ready
Hyperammonaemia v0.4 IVD Zornitza Stark Gene: ivd has been classified as Green List (High Evidence).
Hyperammonaemia v0.4 IVD Zornitza Stark Phenotypes for gene: IVD were changed from Isovaleric acidemia 243500 to Isovaleric acidaemia, MIM# 243500
Hyperammonaemia v0.3 IVD Zornitza Stark Publications for gene: IVD were set to 23063737; 26018748; 24019846; 23587913
Hyperammonaemia v0.2 IVD Zornitza Stark reviewed gene: IVD: Rating: GREEN; Mode of pathogenicity: None; Publications: 15486829; Phenotypes: Isovaleric acidaemia, MIM# 243500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia v0.2 SLC7A7 Zornitza Stark Marked gene: SLC7A7 as ready
Hyperammonaemia v0.2 SLC7A7 Zornitza Stark Gene: slc7a7 has been classified as Green List (High Evidence).
Hyperammonaemia v0.2 SLC7A7 Zornitza Stark Publications for gene: SLC7A7 were set to
Hyperammonaemia v0.1 SLC7A7 Zornitza Stark reviewed gene: SLC7A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 10080182, 18716612; Phenotypes: Lysinuric protein intolerance, MIM# 222700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia v0.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Hyperammonaemia v0.0 TMEM70 Zornitza Stark gene: TMEM70 was added
gene: TMEM70 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM70 were set to 26550569; 21147908; 24740313
Phenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 614052
Hyperammonaemia v0.0 SLC7A7 Zornitza Stark gene: SLC7A7 was added
gene: SLC7A7 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance 222700
Hyperammonaemia v0.0 SLC25A20 Zornitza Stark gene: SLC25A20 was added
gene: SLC25A20 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A20 were set to Carnitine-acylcarnitine translocase deficiency 212138
Hyperammonaemia v0.0 SLC25A15 Zornitza Stark gene: SLC25A15 was added
gene: SLC25A15 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970
Hyperammonaemia v0.0 SLC25A13 Zornitza Stark gene: SLC25A13 was added
gene: SLC25A13 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A13 were set to Citrullinemia, adult-onset type II 603471
Hyperammonaemia v0.0 SLC22A5 Zornitza Stark gene: SLC22A5 was added
gene: SLC22A5 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC22A5 were set to Propionicacidemia 606054
Hyperammonaemia v0.0 SERAC1 Zornitza Stark gene: SERAC1 was added
gene: SERAC1 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERAC1 were set to 27604308; 28482397; 27186703; 22683713; 28778788; 16527507; 29205472
Phenotypes for gene: SERAC1 were set to MEGDHEL syndrome; MEGDEL syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; Hypoglycemia
Hyperammonaemia v0.0 PYGM Zornitza Stark gene: PYGM was added
gene: PYGM was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYGM were set to McArdle disease 232600
Hyperammonaemia v0.0 POLG Zornitza Stark gene: POLG was added
gene: POLG was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700
Hyperammonaemia v0.0 PCCB Zornitza Stark gene: PCCB was added
gene: PCCB was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCB were set to Propionicacidemia 606054
Hyperammonaemia v0.0 PCCA Zornitza Stark gene: PCCA was added
gene: PCCA was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCA were set to Propionicacidemia 606054
Hyperammonaemia v0.0 PC Zornitza Stark gene: PC was added
gene: PC was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency 266150
Hyperammonaemia v0.0 OTC Zornitza Stark gene: OTC was added
gene: OTC was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: OTC 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: OTC were set to 2983225
Phenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency, 311250
Hyperammonaemia v0.0 OAT Zornitza Stark gene: OAT was added
gene: OAT was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina with or without ornithinemia 258870
Hyperammonaemia v0.0 NAGS Zornitza Stark gene: NAGS was added
gene: NAGS was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGS were set to N-acetylglutamate synthase deficiency 237310
Hyperammonaemia v0.0 MUT Zornitza Stark gene: MUT was added
gene: MUT was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUT were set to Methylmalonic aciduria, mut(0) type 251000
Hyperammonaemia v0.0 MMAB Zornitza Stark gene: MMAB was added
gene: MMAB was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMAB were set to Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type 251110
Hyperammonaemia v0.0 MMAA Zornitza Stark gene: MMAA was added
gene: MMAA was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMAA were set to 15523652; 12438653
Phenotypes for gene: MMAA were set to Methylmalonic aciduria, vitamin B12-responsive 251100
Hyperammonaemia v0.0 MLYCD Zornitza Stark gene: MLYCD was added
gene: MLYCD was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MLYCD were set to 10455107; 10417274; 12955715
Phenotypes for gene: MLYCD were set to Malonyl-CoA decarboxylase deficiency 248360; malonic aciduria
Hyperammonaemia v0.0 IVD Zornitza Stark gene: IVD was added
gene: IVD was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IVD were set to 23063737; 26018748; 24019846; 23587913
Phenotypes for gene: IVD were set to Isovaleric acidemia 243500
Hyperammonaemia v0.0 HMGCL Zornitza Stark gene: HMGCL was added
gene: HMGCL was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia v0.0 HLCS Zornitza Stark gene: HLCS was added
gene: HLCS was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HLCS were set to Holocarboxylase synthetase deficiency 253270
Hyperammonaemia v0.0 HADHB Zornitza Stark gene: HADHB was added
gene: HADHB was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency 609015
Hyperammonaemia v0.0 HADHA Zornitza Stark gene: HADHA was added
gene: HADHA was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHA were set to Trifunctional protein deficiency 609015
Hyperammonaemia v0.0 GLUD1 Zornitza Stark gene: GLUD1 was added
gene: GLUD1 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GLUD1 were set to 11214910; 10636977
Phenotypes for gene: GLUD1 were set to Hyperinsulinism-hyperammonemia syndrome, 606762
Hyperammonaemia v0.0 ETFDH Zornitza Stark gene: ETFDH was added
gene: ETFDH was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC 231680
Hyperammonaemia v0.0 ETFB Zornitza Stark gene: ETFB was added
gene: ETFB was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFB were set to 27081516
Phenotypes for gene: ETFB were set to Glutaric acidemia IIB 231680
Hyperammonaemia v0.0 ETFA Zornitza Stark gene: ETFA was added
gene: ETFA was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFA were set to Glutaric acidemia IIA 231680
Hyperammonaemia v0.0 DBT Zornitza Stark gene: DBT was added
gene: DBT was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DBT were set to Maple syrup urine disease, type II 248600
Hyperammonaemia v0.0 CPT2 Zornitza Stark gene: CPT2 was added
gene: CPT2 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT2 were set to CPT deficiency, hepatic, type II 600649; CPT II deficiency, lethal neonatal 608836
Hyperammonaemia v0.0 CPT1A Zornitza Stark gene: CPT1A was added
gene: CPT1A was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT1A were set to CPT deficiency, hepatic, type IA 255120
Hyperammonaemia v0.0 CPS1 Zornitza Stark gene: CPS1 was added
gene: CPS1 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency 237300
Hyperammonaemia v0.0 CA5A Zornitza Stark gene: CA5A was added
gene: CA5A was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CA5A were set to 24530203
Phenotypes for gene: CA5A were set to Hyperammonemia due to carbonic anhydrase VA deficiency 615751
Hyperammonaemia v0.0 BCKDHB Zornitza Stark gene: BCKDHB was added
gene: BCKDHB was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHB were set to Maple syrup urine disease, type Ib 248600
Hyperammonaemia v0.0 BCKDHA Zornitza Stark gene: BCKDHA was added
gene: BCKDHA was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHA were set to Maple syrup urine disease, type Ia 248600
Hyperammonaemia v0.0 AUH Zornitza Stark gene: AUH was added
gene: AUH was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I 250950
Hyperammonaemia v0.0 ASS1 Zornitza Stark gene: ASS1 was added
gene: ASS1 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASS1 were set to 2358466
Phenotypes for gene: ASS1 were set to Citrullinemia 215700
Hyperammonaemia v0.0 ASL Zornitza Stark gene: ASL was added
gene: ASL was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASL were set to 2263616; 12408190
Phenotypes for gene: ASL were set to Argininosuccinic aciduria 207900
Hyperammonaemia v0.0 ARG1 Zornitza Stark gene: ARG1 was added
gene: ARG1 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARG1 were set to Argininemia 207800
Hyperammonaemia v0.0 ALDH18A1 Zornitza Stark gene: ALDH18A1 was added
gene: ALDH18A1 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ALDH18A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH18A1 were set to 24767728; 11092761
Phenotypes for gene: ALDH18A1 were set to Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150
Hyperammonaemia v0.0 ACADVL Zornitza Stark gene: ACADVL was added
gene: ACADVL was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADVL were set to VLCAD deficiency 201475
Hyperammonaemia v0.0 ACADM Zornitza Stark gene: ACADM was added
gene: ACADM was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of 201450
Hyperammonaemia v0.0 Zornitza Stark Added panel Hyperammonaemia