12 Mar 2024
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
13 Apr 2023
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
23 Feb 2021
Undiagnosed metabolic disorders v1.447
G6PC
Catherine Snow Tag new-gene-name tag was added to gene: G6PC.
23 Feb 2021
Undiagnosed metabolic disorders v1.447
G6PC
Catherine Snow commented on gene: G6PC
19 Aug 2019
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
19 Aug 2019
Undiagnosed metabolic disorders v1.226
PCSK9
Sarah Leigh Classified gene: PCSK9 as Green List (high evidence)
19 Aug 2019
Undiagnosed metabolic disorders v1.226
PCSK9
Sarah Leigh Gene: pcsk9 has been classified as Green List (High Evidence).
19 Aug 2019
Undiagnosed metabolic disorders v1.225
PCSK9
Sarah Leigh Publications for gene: PCSK9 were set to 27604308
19 Aug 2019
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
19 Aug 2019
Undiagnosed metabolic disorders v1.223
PCK1
Sarah Leigh Classified gene: PCK1 as Green List (high evidence)
19 Aug 2019
Undiagnosed metabolic disorders v1.223
PCK1
Sarah Leigh Gene: pck1 has been classified as Green List (High Evidence).
19 Aug 2019
Undiagnosed metabolic disorders v1.222
PCK1
Sarah Leigh Publications for gene: PCK1 were set to 27604308
19 Aug 2019
Undiagnosed metabolic disorders v1.221
PCK1
Sarah Leigh Added comment: Comment on phenotypes: Phosphoenolpyruvate carboxykinase deficiency (Disorders of gluconeogenesis);Cytosolic phosphoenolpyruvate carboxykinase (PEPCK))
19 Aug 2019
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
19 Aug 2019
Undiagnosed metabolic disorders v1.183
LIPC
Sarah Leigh Classified gene: LIPC as Amber List (moderate evidence)
19 Aug 2019
Undiagnosed metabolic disorders v1.183
LIPC
Sarah Leigh Gene: lipc has been classified as Amber List (Moderate Evidence).
19 Aug 2019
Undiagnosed metabolic disorders v1.182
LIPC
Sarah Leigh Classified gene: LIPC as Amber List (moderate evidence)
19 Aug 2019
Undiagnosed metabolic disorders v1.182
LIPC
Sarah Leigh Gene: lipc has been classified as Amber List (Moderate Evidence).
19 Aug 2019
Undiagnosed metabolic disorders v1.181
LIPC
Sarah Leigh Publications for gene: LIPC were set to 27604308; 1671786; 12777476; 22464213; 23219720
19 Aug 2019
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
15 Aug 2019
Undiagnosed metabolic disorders v1.179
LIPC
Sarah Leigh Publications for gene: LIPC were set to 27604308
15 Aug 2019
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
23 Feb 2017
Undiagnosed metabolic disorders
PCK1
Louise Daugherty reviewed PCK1
23 Feb 2017
Undiagnosed metabolic disorders
LIPC
Rebecca Foulger reviewed LIPC
19 Jan 2017
Undiagnosed metabolic disorders
PCBD1
Sarah Leigh marked PCBD1 as ready
19 Jan 2017
Undiagnosed metabolic disorders
PCBD1
Sarah Leigh commented on PCBD1
17 Jan 2017
Undiagnosed metabolic disorders
G6PC3
Sarah Leigh marked G6PC3 as ready
17 Jan 2017
Undiagnosed metabolic disorders
G6PC3
Sarah Leigh classified G6PC3 as green
17 Jan 2017
Undiagnosed metabolic disorders
G6PC3
Sarah Leigh classified G6PC3 as green
17 Jan 2017
Undiagnosed metabolic disorders
NPC2
Sarah Leigh marked NPC2 as ready
17 Jan 2017
Undiagnosed metabolic disorders
NPC2
Sarah Leigh classified NPC2 as green
17 Jan 2017
Undiagnosed metabolic disorders
NPC1
Sarah Leigh marked NPC1 as ready
17 Jan 2017
Undiagnosed metabolic disorders
NPC1
Sarah Leigh classified NPC1 as green
06 Jan 2017
Undiagnosed metabolic disorders
PCSK9
Sarah Leigh commented on PCSK9
06 Jan 2017
Undiagnosed metabolic disorders
NPC2
Sarah Leigh edited their review of NPC2
06 Jan 2017
Undiagnosed metabolic disorders
NPC2
Sarah Leigh edited their review of NPC2
06 Jan 2017
Undiagnosed metabolic disorders
NPC1
Sarah Leigh edited their review of NPC1
06 Jan 2017
Undiagnosed metabolic disorders
NPC1
Sarah Leigh edited their review of NPC1
06 Jan 2017
Undiagnosed metabolic disorders
NPC1
Sarah Leigh edited their review of NPC1
06 Jan 2017
Undiagnosed metabolic disorders
PCSK9
Sarah Leigh reviewed PCSK9
06 Jan 2017
Undiagnosed metabolic disorders
NPC2
Sarah Leigh edited their review of NPC2
06 Jan 2017
Undiagnosed metabolic disorders
NPC2
Sarah Leigh reviewed NPC2
06 Jan 2017
Undiagnosed metabolic disorders
NPC1
Sarah Leigh edited their review of NPC1
06 Jan 2017
Undiagnosed metabolic disorders
NPC1
Sarah Leigh edited their review of NPC1
06 Jan 2017
Undiagnosed metabolic disorders
NPC1
Sarah Leigh reviewed NPC1
06 Jan 2017
Undiagnosed metabolic disorders
G6PC3
Sarah Leigh edited their review of G6PC3
06 Jan 2017
Undiagnosed metabolic disorders
G6PC3
Sarah Leigh edited their review of G6PC3
06 Jan 2017
Undiagnosed metabolic disorders
G6PC3
Sarah Leigh edited their review of G6PC3
06 Jan 2017
Undiagnosed metabolic disorders
G6PC3
Sarah Leigh reviewed G6PC3