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Hyperammonaemia v1.0 OAT Gene migrated from ENSG00000065154 to ENSG00000065154 (gene set migration)
Hyperammonaemia v1.0 DBT Gene migrated from ENSG00000137992 to ENSG00000137992 (gene set migration)
Hyperammonaemia v1.0 SLC7A7 Gene migrated from ENSG00000155465 to ENSG00000155465 (gene set migration)
Hyperammonaemia v1.0 IVD Gene migrated from ENSG00000128928 to ENSG00000128928 (gene set migration)
Hyperammonaemia v1.0 TMEM70 Gene migrated from ENSG00000175606 to ENSG00000175606 (gene set migration)
Hyperammonaemia v1.0 SLC25A20 Gene migrated from ENSG00000178537 to ENSG00000178537 (gene set migration)
Hyperammonaemia v1.0 SLC25A15 Gene migrated from ENSG00000102743 to ENSG00000102743 (gene set migration)
Hyperammonaemia v1.0 SLC25A13 Gene migrated from ENSG00000004864 to ENSG00000004864 (gene set migration)
Hyperammonaemia v1.0 SLC22A5 Gene migrated from ENSG00000197375 to ENSG00000197375 (gene set migration)
Hyperammonaemia v1.0 SERAC1 Gene migrated from ENSG00000122335 to ENSG00000122335 (gene set migration)
Hyperammonaemia v1.0 PYGM Gene migrated from ENSG00000068976 to ENSG00000068976 (gene set migration)
Hyperammonaemia v1.0 POLG Gene migrated from ENSG00000140521 to ENSG00000140521 (gene set migration)
Hyperammonaemia v1.0 PCCB Gene migrated from ENSG00000114054 to ENSG00000114054 (gene set migration)
Hyperammonaemia v1.0 PCCA Gene migrated from ENSG00000175198 to ENSG00000175198 (gene set migration)
Hyperammonaemia v1.0 PC Gene migrated from ENSG00000173599 to ENSG00000173599 (gene set migration)
Hyperammonaemia v1.0 OTC Gene migrated from ENSG00000036473 to ENSG00000036473 (gene set migration)
Hyperammonaemia v1.0 NAGS Gene migrated from ENSG00000161653 to ENSG00000161653 (gene set migration)
Hyperammonaemia v1.0 MMAB Gene migrated from ENSG00000139428 to ENSG00000139428 (gene set migration)
Hyperammonaemia v1.0 MMAA Gene migrated from ENSG00000151611 to ENSG00000151611 (gene set migration)
Hyperammonaemia v1.0 MLYCD Gene migrated from ENSG00000103150 to ENSG00000103150 (gene set migration)
Hyperammonaemia v1.0 MMUT Gene symbol changed from MUT to MMUT during gene set migration (ENSG00000146085 -> ENSG00000146085)
Hyperammonaemia v1.0 HMGCL Gene migrated from ENSG00000117305 to ENSG00000117305 (gene set migration)
Hyperammonaemia v1.0 HLCS Gene migrated from ENSG00000159267 to ENSG00000159267 (gene set migration)
Hyperammonaemia v1.0 HADHB Gene migrated from ENSG00000138029 to ENSG00000138029 (gene set migration)
Hyperammonaemia v1.0 HADHA Gene migrated from ENSG00000084754 to ENSG00000084754 (gene set migration)
Hyperammonaemia v1.0 GLUD1 Gene migrated from ENSG00000148672 to ENSG00000148672 (gene set migration)
Hyperammonaemia v1.0 ETFDH Gene migrated from ENSG00000171503 to ENSG00000171503 (gene set migration)
Hyperammonaemia v1.0 ETFB Gene migrated from ENSG00000105379 to ENSG00000105379 (gene set migration)
Hyperammonaemia v1.0 ETFA Gene migrated from ENSG00000140374 to ENSG00000140374 (gene set migration)
Hyperammonaemia v1.0 CPT1A Gene migrated from ENSG00000110090 to ENSG00000110090 (gene set migration)
Hyperammonaemia v1.0 CPS1 Gene migrated from ENSG00000021826 to ENSG00000021826 (gene set migration)
Hyperammonaemia v1.0 CPT2 Gene migrated from ENSG00000157184 to ENSG00000157184 (gene set migration)
Hyperammonaemia v1.0 CA5A Gene migrated from ENSG00000174990 to ENSG00000174990 (gene set migration)
Hyperammonaemia v1.0 BCKDHB Gene migrated from ENSG00000083123 to ENSG00000083123 (gene set migration)
Hyperammonaemia v1.0 BCKDHA Gene migrated from ENSG00000248098 to ENSG00000248098 (gene set migration)
Hyperammonaemia v1.0 ASS1 Gene migrated from ENSG00000130707 to ENSG00000130707 (gene set migration)
Hyperammonaemia v1.0 ASL Gene migrated from ENSG00000126522 to ENSG00000126522 (gene set migration)
Hyperammonaemia v1.0 ALDH18A1 Gene migrated from ENSG00000059573 to ENSG00000059573 (gene set migration)
Hyperammonaemia v1.0 ACADVL Gene migrated from ENSG00000072778 to ENSG00000072778 (gene set migration)
Hyperammonaemia v1.0 ACADM Gene migrated from ENSG00000117054 to ENSG00000117054 (gene set migration)
Hyperammonaemia v1.0 AUH Gene migrated from ENSG00000148090 to ENSG00000148090 (gene set migration)
Hyperammonaemia v1.0 ARG1 Gene migrated from ENSG00000118520 to ENSG00000118520 (gene set migration)
Hyperammonaemia v1.0 SLC25A36 Gene migrated from ENSG00000114120 to ENSG00000114120 (gene set migration)
Hyperammonaemia v1.0 Panel migrated to gene set Ensemblv115. Source version: v0.10
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