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Hyperammonaemia v1.22 Eleanor Williams List of related panels changed from to
Hyperammonaemia v1.21 SLC22A5 Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia v1.20 SLC22A5 Sarah Leigh changed review comment from: Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; to: Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427).
Hyperammonaemia v1.20 SLC22A5 Sarah Leigh Phenotypes for gene: SLC22A5 were changed from Propionicacidemia 606054 to Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919
Hyperammonaemia v1.19 SLC22A5 Sarah Leigh Publications for gene: SLC22A5 were set to
Hyperammonaemia v1.18 SLC22A5 Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).
Hyperammonaemia v1.18 SLC22A5 Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hyperammonaemia v1.17 ETFB Sarah Leigh Publications for gene: ETFB were set to 27081516
Hyperammonaemia v1.16 ETFB Sarah Leigh Phenotypes for gene: ETFB were changed from Glutaric acidemia IIB 231680 to Glutaric acidemia IIB, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Hyperammonaemia v1.15 ETFA Sarah Leigh Phenotypes for gene: ETFA were changed from Glutaric acidemia IIA 231680 to Glutaric acidemia IIA, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Hyperammonaemia v1.14 PC Arina Puzriakova Phenotypes for gene: PC were changed from Pyruvate carboxylase deficiency 266150 to Pyruvate carboxylase deficiency, OMIM:266150
Hyperammonaemia v1.13 TAZ Arina Puzriakova commented on gene: TAZ
Hyperammonaemia v1.13 TAZ Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
Hyperammonaemia v1.13 CPT2 Arina Puzriakova Phenotypes for gene: CPT2 were changed from CPT deficiency, hepatic, type II 600649; CPT II deficiency, lethal neonatal 608836 to CPT II deficiency, infantile, OMIM:600649; CPT II deficiency, lethal neonatal, OMIM:608836
Hyperammonaemia v1.12 SLC25A15 Arina Puzriakova Phenotypes for gene: SLC25A15 were changed from Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970
Hyperammonaemia v1.11 SERAC1 Arina Puzriakova Phenotypes for gene: SERAC1 were changed from 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739; MEGDEL syndrome; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; MEGDHEL syndrome; Hypoglycemia to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739; Hypoglycemia
Hyperammonaemia v1.10 ARG1 Arina Puzriakova Phenotypes for gene: ARG1 were changed from Argininemia 207800 to Argininemia, OMIM:207800
Hyperammonaemia v1.9 ALDH18A1 Sarah Leigh Phenotypes for gene: ALDH18A1 were changed from Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150 to Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150; ALDH18A1-related de Barsy syndrome MONDO:0009053
Hyperammonaemia v1.8 ALDH18A1 Sarah Leigh changed review comment from: Comment when marking as ready: Associated with Cutis laxa, autosomal recessive, type IIIA (219150) in OMIM, not in G2P / DD. At least 6 homozygous variants reported. Hyperammonaemia only reported in two siblings (PMID 24767728); to: Comment when marking as ready: Associated with Cutis laxa, autosomal recessive, type IIIA (219150) in OMIM, not in G2P / DD. At least 6 homozygous variants reported. Hyperammonaemia only reported in two siblings (PMID 11092761;24767728)
Hyperammonaemia v1.8 G6PC Catherine Snow Tag new-gene-name tag was added to gene: G6PC.
Hyperammonaemia v1.8 G6PC Catherine Snow commented on gene: G6PC
Hyperammonaemia v1.8 MUT Louise Daugherty Tag new-gene-name tag was added to gene: MUT.
Hyperammonaemia v1.8 MUT Louise Daugherty commented on gene: MUT
Hyperammonaemia OTC Ellen McDonagh edited their review of OTC
Hyperammonaemia SERAC1 Louise Daugherty classified SERAC1 as Green List (high evidence)
Hyperammonaemia SERAC1 Louise Daugherty edited their review of SERAC1
Hyperammonaemia SERAC1 Louise Daugherty reviewed SERAC1
Hyperammonaemia CD320 Sarah Leigh commented on CD320
Hyperammonaemia ACADL Sarah Leigh edited their review of ACADL
Hyperammonaemia Sarah Leigh promoted panel to version 1
Hyperammonaemia ALDH18A1 Sarah Leigh classified ALDH18A1 as green
Hyperammonaemia POLG Sarah Leigh marked POLG as ready
Hyperammonaemia POLG Sarah Leigh classified POLG as green
Hyperammonaemia OAT Sarah Leigh classified OAT as green
Hyperammonaemia IVD Sarah Leigh classified IVD as green
Hyperammonaemia ETFDH Sarah Leigh marked ETFDH as ready
Hyperammonaemia ETFDH Sarah Leigh classified ETFDH as green
Hyperammonaemia ETFB Sarah Leigh marked ETFB as ready
Hyperammonaemia ETFB Sarah Leigh classified ETFB as green
Hyperammonaemia ETFA Sarah Leigh marked ETFA as ready
Hyperammonaemia ETFA Sarah Leigh classified ETFA as green
Hyperammonaemia DBT Sarah Leigh marked DBT as ready
Hyperammonaemia DBT Sarah Leigh classified DBT as green
Hyperammonaemia BCKDHB Sarah Leigh marked BCKDHB as ready
Hyperammonaemia BCKDHB Sarah Leigh classified BCKDHB as green
Hyperammonaemia BCKDHA Sarah Leigh classified BCKDHA as green
Hyperammonaemia AUH Sarah Leigh classified AUH as green
Hyperammonaemia ACADVL Sarah Leigh marked ACADVL as ready
Hyperammonaemia ACADVL Sarah Leigh classified ACADVL as green
Hyperammonaemia ACADVL Sarah Leigh classified ACADVL as green
Hyperammonaemia ACADS Sarah Leigh marked ACADS as ready
Hyperammonaemia ACADS Sarah Leigh commented on ACADS
Hyperammonaemia ACADL Sarah Leigh marked ACADL as ready
Hyperammonaemia ACADL Sarah Leigh commented on ACADL
Hyperammonaemia ACAD9 Sarah Leigh marked ACAD9 as ready
Hyperammonaemia ACAD9 Sarah Leigh commented on ACAD9
Hyperammonaemia ETFDH Sarah Leigh commented on ETFDH
Hyperammonaemia ETFB Sarah Leigh commented on ETFB
Hyperammonaemia ETFA Sarah Leigh commented on ETFA
Hyperammonaemia DBT Sarah Leigh commented on DBT
Hyperammonaemia BCKDHB Sarah Leigh commented on BCKDHB
Hyperammonaemia BCKDHA Sarah Leigh commented on BCKDHA
Hyperammonaemia AUH Sarah Leigh edited their review of AUH
Hyperammonaemia AUH Sarah Leigh marked AUH as ready
Hyperammonaemia AUH Sarah Leigh commented on AUH
Hyperammonaemia ALDH18A1 Sarah Leigh marked ALDH18A1 as ready
Hyperammonaemia ALDH18A1 Sarah Leigh commented on ALDH18A1
Hyperammonaemia MLYCD Sarah Leigh marked MLYCD as ready
Hyperammonaemia MLYCD Sarah Leigh commented on MLYCD
Hyperammonaemia CA5A Sarah Leigh marked CA5A as ready
Hyperammonaemia CA5A Sarah Leigh commented on CA5A
Hyperammonaemia CA5A Sarah Leigh classified CA5A as green
Hyperammonaemia ALDH18A1 Sarah Leigh classified ALDH18A1 as red
Hyperammonaemia TMEM70 Sarah Leigh marked TMEM70 as ready
Hyperammonaemia TMEM70 Sarah Leigh commented on TMEM70
Hyperammonaemia PYGM Sarah Leigh marked PYGM as ready
Hyperammonaemia PYGM Sarah Leigh commented on PYGM
Hyperammonaemia POLG Sarah Leigh commented on POLG
Hyperammonaemia PC Sarah Leigh marked PC as ready
Hyperammonaemia PC Sarah Leigh commented on PC
Hyperammonaemia HLCS Sarah Leigh marked HLCS as ready
Hyperammonaemia HLCS Sarah Leigh commented on HLCS
Hyperammonaemia ATPAF2 Sarah Leigh marked ATPAF2 as ready
Hyperammonaemia ATPAF2 Sarah Leigh commented on ATPAF2
Hyperammonaemia ATPAF2 Sarah Leigh classified ATPAF2 as red
Hyperammonaemia ARG1 Sarah Leigh marked ARG1 as ready
Hyperammonaemia ARG1 Sarah Leigh commented on ARG1
Hyperammonaemia ARG1 Sarah Leigh classified ARG1 as green
Hyperammonaemia SLC7A7 Sarah Leigh marked SLC7A7 as ready
Hyperammonaemia SLC7A7 Sarah Leigh commented on SLC7A7
Hyperammonaemia SLC25A20 Sarah Leigh marked SLC25A20 as ready
Hyperammonaemia SLC25A20 Sarah Leigh commented on SLC25A20
Hyperammonaemia SLC25A13 Sarah Leigh marked SLC25A13 as ready
Hyperammonaemia SLC25A13 Sarah Leigh commented on SLC25A13
Hyperammonaemia SLC22A5 Sarah Leigh marked SLC22A5 as ready
Hyperammonaemia SLC22A5 Sarah Leigh commented on SLC22A5
Hyperammonaemia PCCB Sarah Leigh marked PCCB as ready
Hyperammonaemia PCCB Sarah Leigh commented on PCCB
Hyperammonaemia PCCA Sarah Leigh marked PCCA as ready
Hyperammonaemia PCCA Sarah Leigh commented on PCCA
Hyperammonaemia OAT Sarah Leigh marked OAT as ready
Hyperammonaemia OAT Sarah Leigh commented on OAT
Hyperammonaemia OAT Sarah Leigh classified OAT as red
Hyperammonaemia MUT Sarah Leigh marked MUT as ready
Hyperammonaemia MUT Sarah Leigh commented on MUT
Hyperammonaemia MMACHC Sarah Leigh classified MMACHC as red
Hyperammonaemia MMACHC Sarah Leigh marked MMACHC as ready
Hyperammonaemia MMACHC Sarah Leigh commented on MMACHC
Hyperammonaemia MMAB Sarah Leigh marked MMAB as ready
Hyperammonaemia MMAB Sarah Leigh commented on MMAB
Hyperammonaemia MMAA Sarah Leigh marked MMAA as ready
Hyperammonaemia MMAA Sarah Leigh commented on MMAA
Hyperammonaemia IVD Sarah Leigh marked IVD as ready
Hyperammonaemia IVD Sarah Leigh classified IVD as red
Hyperammonaemia IVD Sarah Leigh commented on IVD
Hyperammonaemia HMGCS2 Sarah Leigh marked HMGCS2 as ready
Hyperammonaemia HMGCS2 Sarah Leigh commented on HMGCS2
Hyperammonaemia HMGCS2 Sarah Leigh classified HMGCS2 as red
Hyperammonaemia HMGCL Sarah Leigh marked HMGCL as ready
Hyperammonaemia HMGCL Sarah Leigh commented on HMGCL
Hyperammonaemia HADHB Sarah Leigh marked HADHB as ready
Hyperammonaemia HADHB Sarah Leigh commented on HADHB
Hyperammonaemia HADHA Sarah Leigh marked HADHA as ready
Hyperammonaemia HADHA Sarah Leigh commented on HADHA
Hyperammonaemia CPT2 Sarah Leigh marked CPT2 as ready
Hyperammonaemia CPT2 Sarah Leigh commented on CPT2
Hyperammonaemia CPT1A Sarah Leigh marked CPT1A as ready
Hyperammonaemia CPT1A Sarah Leigh commented on CPT1A
Hyperammonaemia ACADVL Sarah Leigh marked ACADVL as ready
Hyperammonaemia ACADVL Sarah Leigh commented on ACADVL
Hyperammonaemia GLUD1 Sarah Leigh marked GLUD1 as ready
Hyperammonaemia GLUD1 Sarah Leigh commented on GLUD1
Hyperammonaemia ACADM Sarah Leigh marked ACADM as ready
Hyperammonaemia ACADM Sarah Leigh commented on ACADM
Hyperammonaemia ACADM Sarah Leigh classified ACADM as green
Hyperammonaemia NAGS Sarah Leigh classified NAGS as green
Hyperammonaemia NAGS Sarah Leigh marked NAGS as ready
Hyperammonaemia NAGS Sarah Leigh commented on NAGS
Hyperammonaemia CPS1 Sarah Leigh marked CPS1 as ready
Hyperammonaemia CPS1 Sarah Leigh commented on CPS1
Hyperammonaemia CPS1 Sarah Leigh classified CPS1 as green
Hyperammonaemia ASL Sarah Leigh commented on ASL