08 Aug 2023
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
08 Aug 2023
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).
01 Aug 2023
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
01 Aug 2023
Hyperammonaemia v1.19
SLC22A5
Sarah Leigh Publications for gene: SLC22A5 were set to
01 Aug 2023
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).
01 Aug 2023
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
30 May 2023
Hyperammonaemia v1.17
ETFB
Sarah Leigh Publications for gene: ETFB were set to 27081516
30 May 2023
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
30 May 2023
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
13 Apr 2023
Hyperammonaemia v1.14
PC
Arina Puzriakova Phenotypes for gene: PC were changed from Pyruvate carboxylase deficiency 266150 to Pyruvate carboxylase deficiency, OMIM:266150
10 May 2022
Hyperammonaemia v1.13
TAZ
Arina Puzriakova commented on gene: TAZ
10 May 2022
Hyperammonaemia v1.13
TAZ
Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
12 Jan 2022
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
31 Aug 2021
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
20 Aug 2021
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
16 Aug 2021
Hyperammonaemia v1.10
ARG1
Arina Puzriakova Phenotypes for gene: ARG1 were changed from Argininemia 207800 to Argininemia, OMIM:207800
14 Jul 2021
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
01 Jul 2021
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)
23 Feb 2021
Hyperammonaemia v1.8
G6PC
Catherine Snow Tag new-gene-name tag was added to gene: G6PC.
23 Feb 2021
Hyperammonaemia v1.8
G6PC
Catherine Snow commented on gene: G6PC
30 Oct 2018
Hyperammonaemia v1.8
MUT
Louise Daugherty Tag new-gene-name tag was added to gene: MUT.
30 Oct 2018
Hyperammonaemia v1.8
MUT
Louise Daugherty commented on gene: MUT
14 May 2018
Hyperammonaemia
OTC
Ellen McDonagh edited their review of OTC
19 Dec 2017
Hyperammonaemia
SERAC1
Louise Daugherty classified SERAC1 as Green List (high evidence)
19 Dec 2017
Hyperammonaemia
SERAC1
Louise Daugherty edited their review of SERAC1
19 Dec 2017
Hyperammonaemia
SERAC1
Louise Daugherty reviewed SERAC1
14 Feb 2017
Hyperammonaemia
CD320
Sarah Leigh commented on CD320
24 Jan 2017
Hyperammonaemia
ACADL
Sarah Leigh edited their review of ACADL
22 Nov 2016
Hyperammonaemia
Sarah Leigh promoted panel to version 1
22 Nov 2016
Hyperammonaemia
ALDH18A1
Sarah Leigh classified ALDH18A1 as green
21 Nov 2016
Hyperammonaemia
POLG
Sarah Leigh marked POLG as ready
21 Nov 2016
Hyperammonaemia
POLG
Sarah Leigh classified POLG as green
21 Nov 2016
Hyperammonaemia
OAT
Sarah Leigh classified OAT as green
21 Nov 2016
Hyperammonaemia
IVD
Sarah Leigh classified IVD as green
21 Nov 2016
Hyperammonaemia
ETFDH
Sarah Leigh marked ETFDH as ready
21 Nov 2016
Hyperammonaemia
ETFDH
Sarah Leigh classified ETFDH as green
21 Nov 2016
Hyperammonaemia
ETFB
Sarah Leigh marked ETFB as ready
21 Nov 2016
Hyperammonaemia
ETFB
Sarah Leigh classified ETFB as green
21 Nov 2016
Hyperammonaemia
ETFA
Sarah Leigh marked ETFA as ready
21 Nov 2016
Hyperammonaemia
ETFA
Sarah Leigh classified ETFA as green
21 Nov 2016
Hyperammonaemia
DBT
Sarah Leigh marked DBT as ready
21 Nov 2016
Hyperammonaemia
DBT
Sarah Leigh classified DBT as green
21 Nov 2016
Hyperammonaemia
BCKDHB
Sarah Leigh marked BCKDHB as ready
21 Nov 2016
Hyperammonaemia
BCKDHB
Sarah Leigh classified BCKDHB as green
21 Nov 2016
Hyperammonaemia
BCKDHA
Sarah Leigh classified BCKDHA as green
21 Nov 2016
Hyperammonaemia
AUH
Sarah Leigh classified AUH as green
21 Nov 2016
Hyperammonaemia
ACADVL
Sarah Leigh marked ACADVL as ready
21 Nov 2016
Hyperammonaemia
ACADVL
Sarah Leigh classified ACADVL as green
21 Nov 2016
Hyperammonaemia
ACADVL
Sarah Leigh classified ACADVL as green
04 Nov 2016
Hyperammonaemia
ACADS
Sarah Leigh marked ACADS as ready
04 Nov 2016
Hyperammonaemia
ACADS
Sarah Leigh commented on ACADS
04 Nov 2016
Hyperammonaemia
ACADL
Sarah Leigh marked ACADL as ready
04 Nov 2016
Hyperammonaemia
ACADL
Sarah Leigh commented on ACADL
04 Nov 2016
Hyperammonaemia
ACAD9
Sarah Leigh marked ACAD9 as ready
04 Nov 2016
Hyperammonaemia
ACAD9
Sarah Leigh commented on ACAD9
03 Nov 2016
Hyperammonaemia
ETFDH
Sarah Leigh commented on ETFDH
03 Nov 2016
Hyperammonaemia
ETFB
Sarah Leigh commented on ETFB
03 Nov 2016
Hyperammonaemia
ETFA
Sarah Leigh commented on ETFA
03 Nov 2016
Hyperammonaemia
DBT
Sarah Leigh commented on DBT
03 Nov 2016
Hyperammonaemia
BCKDHB
Sarah Leigh commented on BCKDHB
03 Nov 2016
Hyperammonaemia
BCKDHA
Sarah Leigh commented on BCKDHA
03 Nov 2016
Hyperammonaemia
AUH
Sarah Leigh edited their review of AUH
03 Nov 2016
Hyperammonaemia
AUH
Sarah Leigh marked AUH as ready
03 Nov 2016
Hyperammonaemia
AUH
Sarah Leigh commented on AUH
03 Nov 2016
Hyperammonaemia
ALDH18A1
Sarah Leigh marked ALDH18A1 as ready
03 Nov 2016
Hyperammonaemia
ALDH18A1
Sarah Leigh commented on ALDH18A1
08 Sep 2016
Hyperammonaemia
MLYCD
Sarah Leigh marked MLYCD as ready
08 Sep 2016
Hyperammonaemia
MLYCD
Sarah Leigh commented on MLYCD
18 Aug 2016
Hyperammonaemia
CA5A
Sarah Leigh marked CA5A as ready
18 Aug 2016
Hyperammonaemia
CA5A
Sarah Leigh commented on CA5A
18 Aug 2016
Hyperammonaemia
CA5A
Sarah Leigh classified CA5A as green
18 Aug 2016
Hyperammonaemia
ALDH18A1
Sarah Leigh classified ALDH18A1 as red
18 Aug 2016
Hyperammonaemia
TMEM70
Sarah Leigh marked TMEM70 as ready
18 Aug 2016
Hyperammonaemia
TMEM70
Sarah Leigh commented on TMEM70
18 Aug 2016
Hyperammonaemia
PYGM
Sarah Leigh marked PYGM as ready
18 Aug 2016
Hyperammonaemia
PYGM
Sarah Leigh commented on PYGM
18 Aug 2016
Hyperammonaemia
POLG
Sarah Leigh commented on POLG
18 Aug 2016
Hyperammonaemia
PC
Sarah Leigh marked PC as ready
18 Aug 2016
Hyperammonaemia
PC
Sarah Leigh commented on PC
18 Aug 2016
Hyperammonaemia
HLCS
Sarah Leigh marked HLCS as ready
18 Aug 2016
Hyperammonaemia
HLCS
Sarah Leigh commented on HLCS
18 Aug 2016
Hyperammonaemia
ATPAF2
Sarah Leigh commented on ATPAF2
18 Aug 2016
Hyperammonaemia
ATPAF2
Sarah Leigh marked ATPAF2 as ready
18 Aug 2016
Hyperammonaemia
ATPAF2
Sarah Leigh classified ATPAF2 as red
18 Aug 2016
Hyperammonaemia
ARG1
Sarah Leigh marked ARG1 as ready
18 Aug 2016
Hyperammonaemia
ARG1
Sarah Leigh commented on ARG1
18 Aug 2016
Hyperammonaemia
ARG1
Sarah Leigh classified ARG1 as green
18 Aug 2016
Hyperammonaemia
SLC7A7
Sarah Leigh marked SLC7A7 as ready
18 Aug 2016
Hyperammonaemia
SLC7A7
Sarah Leigh commented on SLC7A7
18 Aug 2016
Hyperammonaemia
SLC25A20
Sarah Leigh marked SLC25A20 as ready
18 Aug 2016
Hyperammonaemia
SLC25A20
Sarah Leigh commented on SLC25A20
18 Aug 2016
Hyperammonaemia
SLC25A13
Sarah Leigh marked SLC25A13 as ready
18 Aug 2016
Hyperammonaemia
SLC25A13
Sarah Leigh commented on SLC25A13
18 Aug 2016
Hyperammonaemia
SLC22A5
Sarah Leigh marked SLC22A5 as ready
18 Aug 2016
Hyperammonaemia
SLC22A5
Sarah Leigh commented on SLC22A5
18 Aug 2016
Hyperammonaemia
PCCB
Sarah Leigh marked PCCB as ready
18 Aug 2016
Hyperammonaemia
PCCB
Sarah Leigh commented on PCCB
18 Aug 2016
Hyperammonaemia
PCCA
Sarah Leigh marked PCCA as ready
18 Aug 2016
Hyperammonaemia
PCCA
Sarah Leigh commented on PCCA
18 Aug 2016
Hyperammonaemia
OAT
Sarah Leigh marked OAT as ready
18 Aug 2016
Hyperammonaemia
OAT
Sarah Leigh commented on OAT
18 Aug 2016
Hyperammonaemia
OAT
Sarah Leigh classified OAT as red
18 Aug 2016
Hyperammonaemia
MUT
Sarah Leigh marked MUT as ready
18 Aug 2016
Hyperammonaemia
MUT
Sarah Leigh commented on MUT
18 Aug 2016
Hyperammonaemia
MMACHC
Sarah Leigh classified MMACHC as red
18 Aug 2016
Hyperammonaemia
MMACHC
Sarah Leigh marked MMACHC as ready
18 Aug 2016
Hyperammonaemia
MMACHC
Sarah Leigh commented on MMACHC
18 Aug 2016
Hyperammonaemia
MMAB
Sarah Leigh marked MMAB as ready
18 Aug 2016
Hyperammonaemia
MMAB
Sarah Leigh commented on MMAB
18 Aug 2016
Hyperammonaemia
MMAA
Sarah Leigh marked MMAA as ready
18 Aug 2016
Hyperammonaemia
MMAA
Sarah Leigh commented on MMAA
18 Aug 2016
Hyperammonaemia
IVD
Sarah Leigh marked IVD as ready
18 Aug 2016
Hyperammonaemia
IVD
Sarah Leigh classified IVD as red
18 Aug 2016
Hyperammonaemia
IVD
Sarah Leigh commented on IVD
18 Aug 2016
Hyperammonaemia
HMGCS2
Sarah Leigh commented on HMGCS2
18 Aug 2016
Hyperammonaemia
HMGCS2
Sarah Leigh marked HMGCS2 as ready
18 Aug 2016
Hyperammonaemia
HMGCS2
Sarah Leigh classified HMGCS2 as red
18 Aug 2016
Hyperammonaemia
HMGCL
Sarah Leigh commented on HMGCL
18 Aug 2016
Hyperammonaemia
HMGCL
Sarah Leigh marked HMGCL as ready
18 Aug 2016
Hyperammonaemia
HADHB
Sarah Leigh marked HADHB as ready
18 Aug 2016
Hyperammonaemia
HADHB
Sarah Leigh commented on HADHB
18 Aug 2016
Hyperammonaemia
HADHA
Sarah Leigh marked HADHA as ready
18 Aug 2016
Hyperammonaemia
HADHA
Sarah Leigh commented on HADHA
18 Aug 2016
Hyperammonaemia
CPT2
Sarah Leigh marked CPT2 as ready
18 Aug 2016
Hyperammonaemia
CPT2
Sarah Leigh commented on CPT2
18 Aug 2016
Hyperammonaemia
CPT1A
Sarah Leigh commented on CPT1A
18 Aug 2016
Hyperammonaemia
CPT1A
Sarah Leigh marked CPT1A as ready
18 Aug 2016
Hyperammonaemia
ACADVL
Sarah Leigh marked ACADVL as ready
18 Aug 2016
Hyperammonaemia
ACADVL
Sarah Leigh commented on ACADVL
18 Aug 2016
Hyperammonaemia
GLUD1
Sarah Leigh marked GLUD1 as ready
18 Aug 2016
Hyperammonaemia
GLUD1
Sarah Leigh commented on GLUD1
17 Aug 2016
Hyperammonaemia
ACADM
Sarah Leigh marked ACADM as ready
17 Aug 2016
Hyperammonaemia
ACADM
Sarah Leigh commented on ACADM
17 Aug 2016
Hyperammonaemia
ACADM
Sarah Leigh classified ACADM as green
17 Aug 2016
Hyperammonaemia
NAGS
Sarah Leigh classified NAGS as green
17 Aug 2016
Hyperammonaemia
NAGS
Sarah Leigh marked NAGS as ready
17 Aug 2016
Hyperammonaemia
NAGS
Sarah Leigh commented on NAGS
17 Aug 2016
Hyperammonaemia
CPS1
Sarah Leigh marked CPS1 as ready
17 Aug 2016
Hyperammonaemia
CPS1
Sarah Leigh commented on CPS1
17 Aug 2016
Hyperammonaemia
CPS1
Sarah Leigh classified CPS1 as green
17 Aug 2016
Hyperammonaemia
ASL
Sarah Leigh commented on ASL