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Undiagnosed metabolic disorders v1.615 G6PC Arina Puzriakova Phenotypes for gene: G6PC were changed from Glycogen storage disease type 1a, von Gierke (Glycogen storage disorders); fasting intolerance with enlarged liver, renal tubular disease; Glycogen storage disease Ia, 232200; Glycogen Storage Disease Type I; Glycogen Storage Disorders- Liver; Glycogen Storage Disease; Glycogen Storage Disease Ia to Glycogen storage disease Ia, OMIM:232200
Undiagnosed metabolic disorders v1.581 PC Arina Puzriakova Phenotypes for gene: PC were changed from Pyruvate carboxylase deficiency (Disorders of gluconeogenesis); lactic acidosis, hypotonia, encephalopathy; Pyruvate carboxylase deficiency 266150; Pyruvate carboxylase deficiency to Pyruvate carboxylase deficiency, OMIM:266150
Undiagnosed metabolic disorders v1.447 G6PC Catherine Snow Tag new-gene-name tag was added to gene: G6PC.
Undiagnosed metabolic disorders v1.447 G6PC Catherine Snow commented on gene: G6PC
Undiagnosed metabolic disorders v1.227 PCSK9 Sarah Leigh Mode of pathogenicity for gene: PCSK9 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Undiagnosed metabolic disorders v1.226 PCSK9 Sarah Leigh Classified gene: PCSK9 as Green List (high evidence)
Undiagnosed metabolic disorders v1.226 PCSK9 Sarah Leigh Gene: pcsk9 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.225 PCSK9 Sarah Leigh Publications for gene: PCSK9 were set to 27604308
Undiagnosed metabolic disorders v1.224 PCSK9 Sarah Leigh Phenotypes for gene: PCSK9 were changed from Autosomal dominant hypercholesterolemia-3 (Inherited hypercholesterolaemias); Familial hypercholesterolaemia to Hypercholesterolemia, familial, 3 603776; {Low density lipoprotein cholesterol level QTL 1} 603776
Undiagnosed metabolic disorders v1.223 PCK1 Sarah Leigh Classified gene: PCK1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.223 PCK1 Sarah Leigh Gene: pck1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.222 PCK1 Sarah Leigh Publications for gene: PCK1 were set to 27604308
Undiagnosed metabolic disorders v1.221 PCK1 Sarah Leigh Added comment: Comment on phenotypes: Phosphoenolpyruvate carboxykinase deficiency (Disorders of gluconeogenesis);Cytosolic phosphoenolpyruvate carboxykinase (PEPCK))
Undiagnosed metabolic disorders v1.221 PCK1 Sarah Leigh Phenotypes for gene: PCK1 were changed from Phosphoenolpyruvate carboxykinase deficiency (Disorders of gluconeogenesis); ?Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency; (PCK1 DEFICIENCY, Cytosolic phosphoenolpyruvate carboxykinase (PEPCK)) to ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic 261680
Undiagnosed metabolic disorders v1.183 LIPC Sarah Leigh Classified gene: LIPC as Amber List (moderate evidence)
Undiagnosed metabolic disorders v1.183 LIPC Sarah Leigh Gene: lipc has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.182 LIPC Sarah Leigh Classified gene: LIPC as Amber List (moderate evidence)
Undiagnosed metabolic disorders v1.182 LIPC Sarah Leigh Gene: lipc has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.181 LIPC Sarah Leigh Publications for gene: LIPC were set to 27604308; 1671786; 12777476; 22464213; 23219720
Undiagnosed metabolic disorders v1.180 LIPC Sarah Leigh Phenotypes for gene: LIPC were changed from {Diabetes mellitus, noninsulin-dependent} 125853; Hepatic lipase deficiency 614025; [High density lipoprotein cholesterol level QTL 12] 612797 to Hepatic lipase deficiency, 614025; [High density lipoprotein cholesterol level QTL 12] 612797; {Diabetes mellitus, noninsulin-dependent} 125853
Undiagnosed metabolic disorders v1.179 LIPC Sarah Leigh Publications for gene: LIPC were set to 27604308
Undiagnosed metabolic disorders v1.178 LIPC Sarah Leigh Phenotypes for gene: LIPC were changed from Hepatic lipase deficiency (Inherited mixed hyperlipidaemias); Hepatic lipase deficiency, 614025; [High density lipoprotein cholesterol level QTL 12] 612797; {Diabetes mellitus, noninsulin-dependent} 125853 to {Diabetes mellitus, noninsulin-dependent} 125853; Hepatic lipase deficiency 614025; [High density lipoprotein cholesterol level QTL 12] 612797
Undiagnosed metabolic disorders PCK1 Louise Daugherty reviewed PCK1
Undiagnosed metabolic disorders LIPC Rebecca Foulger reviewed LIPC
Undiagnosed metabolic disorders PCBD1 Sarah Leigh marked PCBD1 as ready
Undiagnosed metabolic disorders PCBD1 Sarah Leigh commented on PCBD1
Undiagnosed metabolic disorders G6PC3 Sarah Leigh marked G6PC3 as ready
Undiagnosed metabolic disorders G6PC3 Sarah Leigh classified G6PC3 as green
Undiagnosed metabolic disorders G6PC3 Sarah Leigh classified G6PC3 as green
Undiagnosed metabolic disorders NPC2 Sarah Leigh marked NPC2 as ready
Undiagnosed metabolic disorders NPC2 Sarah Leigh classified NPC2 as green
Undiagnosed metabolic disorders NPC1 Sarah Leigh marked NPC1 as ready
Undiagnosed metabolic disorders NPC1 Sarah Leigh classified NPC1 as green
Undiagnosed metabolic disorders PCSK9 Sarah Leigh commented on PCSK9
Undiagnosed metabolic disorders NPC2 Sarah Leigh edited their review of NPC2
Undiagnosed metabolic disorders NPC2 Sarah Leigh edited their review of NPC2
Undiagnosed metabolic disorders NPC1 Sarah Leigh edited their review of NPC1
Undiagnosed metabolic disorders NPC1 Sarah Leigh edited their review of NPC1
Undiagnosed metabolic disorders NPC1 Sarah Leigh edited their review of NPC1
Undiagnosed metabolic disorders PCSK9 Sarah Leigh reviewed PCSK9
Undiagnosed metabolic disorders NPC2 Sarah Leigh edited their review of NPC2
Undiagnosed metabolic disorders NPC2 Sarah Leigh reviewed NPC2
Undiagnosed metabolic disorders NPC1 Sarah Leigh edited their review of NPC1
Undiagnosed metabolic disorders NPC1 Sarah Leigh edited their review of NPC1
Undiagnosed metabolic disorders NPC1 Sarah Leigh reviewed NPC1
Undiagnosed metabolic disorders G6PC3 Sarah Leigh edited their review of G6PC3
Undiagnosed metabolic disorders G6PC3 Sarah Leigh edited their review of G6PC3
Undiagnosed metabolic disorders G6PC3 Sarah Leigh edited their review of G6PC3
Undiagnosed metabolic disorders G6PC3 Sarah Leigh reviewed G6PC3