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Likely inborn error of metabolism - targeted testing not possible v4.51 PNPLA2 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: PNPLA2.
Likely inborn error of metabolism - targeted testing not possible v4.51 PNPLA2 Arina Puzriakova reviewed gene: PNPLA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v4.50 PNPLA2 Achchuthan Shanmugasundram Source NHS GMS was added to PNPLA2.
Source Expert Review Green was added to PNPLA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v4.27 PNPLA2 Achchuthan Shanmugasundram Classified gene: PNPLA2 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v4.27 PNPLA2 Achchuthan Shanmugasundram Gene: pnpla2 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v4.27 PNPLA2 Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: PNPLA2.
Likely inborn error of metabolism - targeted testing not possible v4.27 PNPLA2 Achchuthan Shanmugasundram Classified gene: PNPLA2 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v4.27 PNPLA2 Achchuthan Shanmugasundram Gene: pnpla2 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v4.27 PNPLA2 Achchuthan Shanmugasundram Classified gene: PNPLA2 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v4.27 PNPLA2 Achchuthan Shanmugasundram Gene: pnpla2 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v4.27 PNPLA2 Achchuthan Shanmugasundram Classified gene: PNPLA2 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v4.27 PNPLA2 Achchuthan Shanmugasundram Gene: pnpla2 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v4.27 PNPLA2 Achchuthan Shanmugasundram Publications for gene: PNPLA2 were set to 18952067; 21544567; 25287355; 25956450; 32269696
Likely inborn error of metabolism - targeted testing not possible v4.27 PNPLA2 Achchuthan Shanmugasundram Classified gene: PNPLA2 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v4.27 PNPLA2 Achchuthan Shanmugasundram Gene: pnpla2 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v4.26 PNPLA2 Achchuthan Shanmugasundram Publications for gene: PNPLA2 were set to 18952067; 21544567; 25287355; 25956450; 32269696
Likely inborn error of metabolism - targeted testing not possible v4.27 PNPLA2 Achchuthan Shanmugasundram Publications for gene: PNPLA2 were set to 18952067; 21544567; 25287355; 25956450; 32269696
Likely inborn error of metabolism - targeted testing not possible v4.27 PNPLA2 Achchuthan Shanmugasundram Publications for gene: PNPLA2 were set to 18952067; 21544567; 25287355; 25956450; 32269696
Likely inborn error of metabolism - targeted testing not possible v4.26 PNPLA2 Achchuthan Shanmugasundram Publications for gene: PNPLA2 were set to 18952067; 21544567; 25287355; 25956450; 32269696
Likely inborn error of metabolism - targeted testing not possible v4.26 PNPLA2 Achchuthan Shanmugasundram Publications for gene: PNPLA2 were set to 18952067; 21544567; 25287355; 25956450; 32269696
Likely inborn error of metabolism - targeted testing not possible v4.26 PNPLA2 Achchuthan Shanmugasundram Publications for gene: PNPLA2 were set to 18952067; 21544567; 25287355; 25956450; 32269696
Likely inborn error of metabolism - targeted testing not possible v4.26 PNPLA2 Achchuthan Shanmugasundram Publications for gene: PNPLA2 were set to 18952067; 25287355; 25956450
Likely inborn error of metabolism - targeted testing not possible v4.25 PNPLA2 Achchuthan Shanmugasundram reviewed gene: PNPLA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18952067, 21544567, 25287355, 25956450, 32269696; Phenotypes: Neutral lipid storage disease with myopathy, OMIM:610717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v3.6 XPNPEP3 Achchuthan Shanmugasundram Tag Q1_22_rating was removed from gene: XPNPEP3.
Likely inborn error of metabolism - targeted testing not possible v3.6 XPNPEP3 Achchuthan Shanmugasundram reviewed gene: XPNPEP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism - targeted testing not possible v3.5 XPNPEP3 Achchuthan Shanmugasundram Source NHS GMS was added to XPNPEP3.
Source Expert Review Green was added to XPNPEP3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v2.237 PNPT1 Arina Puzriakova Phenotypes for gene: PNPT1 were changed from Deafness, autosomal recessive 70, 614934; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 13, 614932; respiratory chain disorder; hearing loss; Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) to Combined oxidative phosphorylation deficiency 13, OMIM:614932; Deafness, autosomal recessive 70, OMIM:614934; Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Likely inborn error of metabolism - targeted testing not possible v2.218 XPNPEP3 Sarah Leigh edited their review of gene: XPNPEP3: Added comment: Associated with relevant phenotype in OMIM and as limited Gen2Phen gene. At least three variants were reported in three unrelated cases (PMID: 32660933; 20179356). Two of the variants were terminating (RCV000000069, RCV001554332) and the third was a missense variant (RCV000000068), that seems to activate a cryptic splice site; RT-PCR of lymphoblastoid cells showed that this resulted in the inclusion of intronic bases and a frameshift. Cilia-related function was examined by the suppression of zebrafish xpnpep3, resulting in phenotypes reminiscent of ciliopathy morphants, this effect was rescued by human XPNPEP3 that was devoid of a mitochondrial localization signal (PMID: 20179356).; Changed rating: GREEN
Likely inborn error of metabolism - targeted testing not possible v2.218 XPNPEP3 Sarah Leigh Tag Q1_22_rating tag was added to gene: XPNPEP3.
Likely inborn error of metabolism - targeted testing not possible v2.218 XPNPEP3 Sarah Leigh Classified gene: XPNPEP3 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v2.218 XPNPEP3 Sarah Leigh Gene: xpnpep3 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v2.217 XPNPEP3 Sarah Leigh Phenotypes for gene: XPNPEP3 were changed from nephronophthisis-like nephropathy to Nephronophthisis-like nephropathy 1 OMIM:613159; nephronophthisis-like nephropathy 1 MONDO:0013163
Likely inborn error of metabolism - targeted testing not possible v2.216 XPNPEP3 Sarah Leigh Publications for gene: XPNPEP3 were set to PMID: 20179356
Likely inborn error of metabolism - targeted testing not possible v2.51 PNPLA2 Zornitza Stark gene: PNPLA2 was added
gene: PNPLA2 was added to Inborn errors of metabolism. Sources: Expert Review
Mode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA2 were set to 18952067; 25287355; 25956450
Phenotypes for gene: PNPLA2 were set to Neutral lipid storage disease with myopathy MIM#610717
Review for gene: PNPLA2 was set to GREEN
Added comment: PLPLA2 is a triglyceride lipase and this is a lipid storage disorder.
Sources: Expert Review
Likely inborn error of metabolism - targeted testing not possible v1.238 PNP Sarah Leigh Publications for gene: PNP were set to 27604308; 3029074; 1384322; 9067751; 8931706; 9737781; 11453975
Likely inborn error of metabolism - targeted testing not possible v1.238 PNP Sarah Leigh Publications for gene: PNP were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.237 PNP Sarah Leigh Deleted their comment
Likely inborn error of metabolism - targeted testing not possible v1.237 PNP Sarah Leigh Classified gene: PNP as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.237 PNP Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 10 variants reported.
Likely inborn error of metabolism - targeted testing not possible v1.237 PNP Sarah Leigh Gene: pnp has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.237 PNP Sarah Leigh Classified gene: PNP as Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.237 PNP Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 10 variants reported.
Likely inborn error of metabolism - targeted testing not possible v1.237 PNP Sarah Leigh Gene: pnp has been classified as Green List (High Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.236 PNP Sarah Leigh Added comment: Comment on phenotypes: SCID;Purine nucleoside phosphorylase deficiency (Disorders of purine metabolism)
Likely inborn error of metabolism - targeted testing not possible v1.236 PNP Sarah Leigh Phenotypes for gene: PNP were changed from SCID; Purine nucleoside phosphorylase deficiency (Disorders of purine metabolism) to Immunodeficiency due to purine nucleoside phosphorylase deficiency 613179
Likely inborn error of metabolism - targeted testing not possible v1.76 PNPLA8 Sarah Leigh Source Expert Review Green was added to PNPLA8.
Mode of inheritance for gene PNPLA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Mitochondrial myopathy with lactic acidosis, 251950 for gene: PNPLA8
Publications for gene PNPLA8 were changed from to 25473036; 25512002; 29681094
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v1.47 PNPT1 Ivone Leong Source NHS GMS was added to PNPT1.
Source London North GLH was added to PNPT1.
Likely inborn error of metabolism - targeted testing not possible v1.47 PNPO Ivone Leong Source NHS GMS was added to PNPO.
Source London North GLH was added to PNPO.
Likely inborn error of metabolism - targeted testing not possible v1.47 PNP Ivone Leong Source NHS GMS was added to PNP.
Source London North GLH was added to PNP.
Likely inborn error of metabolism - targeted testing not possible v0.4 PNPLA8 Ellen McDonagh gene: PNPLA8 was added
gene: PNPLA8 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: PNPLA8 was set to Unknown
Likely inborn error of metabolism - targeted testing not possible v0.4 PNPLA4 Ellen McDonagh gene: PNPLA4 was added
gene: PNPLA4 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: PNPLA4 was set to Unknown
Likely inborn error of metabolism - targeted testing not possible v0.4 XPNPEP3 Ellen McDonagh gene: XPNPEP3 was added
gene: XPNPEP3 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XPNPEP3 were set to PMID: 20179356
Phenotypes for gene: XPNPEP3 were set to nephronophthisis-like nephropathy
Likely inborn error of metabolism - targeted testing not possible v0.4 PNPT1 Ellen McDonagh Added phenotypes Deafness, autosomal recessive 70, 614934; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 13, 614932; respiratory chain disorder; hearing loss; Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: PNPT1
Publications for gene PNPT1 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 PNPT1 Ellen McDonagh gene: PNPT1 was added
gene: PNPT1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PNPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPT1 were set to respiratory chain disorder; Deafness, autosomal recessive 70, 614934; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 13, 614932; hearing loss
Likely inborn error of metabolism - targeted testing not possible v0.4 PNPO Ellen McDonagh gene: PNPO was added
gene: PNPO was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPO were set to 27604308
Phenotypes for gene: PNPO were set to Pyridoxamine 5 -oxidase deficiency (Disorders of pyridoxine metabolism)
Likely inborn error of metabolism - targeted testing not possible v0.4 PNP Ellen McDonagh gene: PNP was added
gene: PNP was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: PNP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNP were set to 27604308
Phenotypes for gene: PNP were set to SCID; Purine nucleoside phosphorylase deficiency (Disorders of purine metabolism)