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{
"count": 220212,
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{
"created": "2021-03-06T18:34:57.170218+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pgk1 has been classified as Green List (High Evidence).",
"entity_name": "PGK1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:34:49.757442+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PGK1 were changed from to Phosphoglycerate kinase 1 deficiency, MIM# 300653",
"entity_name": "PGK1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:34:31.218454+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PGK1 were set to ",
"entity_name": "PGK1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:34:07.407450+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PGK1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PGK1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:33:43.008055+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PGK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 6933565, 1547346, 7577653, 9512313; Phenotypes: Phosphoglycerate kinase 1 deficiency, MIM# 300653; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PGK1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:32:43.342048+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PGK1 as ready",
"entity_name": "PGK1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:32:43.331195+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pgk1 has been classified as Green List (High Evidence).",
"entity_name": "PGK1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:32:30.230195+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PGK1 were changed from to Phosphoglycerate kinase 1 deficiency, MIM# 300653",
"entity_name": "PGK1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:31:58.838183+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PGK1 were set to ",
"entity_name": "PGK1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:30:50.587657+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PGK1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PGK1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:30:06.841380+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PGK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 6933565, 1547346, 7577653, 9512313; Phenotypes: Phosphoglycerate kinase 1 deficiency, MIM# 300653; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PGK1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:27:57.408898+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PGM1 as ready",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:27:57.400231+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pgm1 has been classified as Green List (High Evidence).",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:27:50.386185+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PGM1 were changed from to Congenital disorder of glycosylation, type It 614921; Glycogen storage disorder XIV",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:27:32.179172+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PGM1 were set to ",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:27:13.674392+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PGM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:26:55.500512+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PGM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19625727, 24499211; Phenotypes: Congenital disorder of glycosylation, type It 614921, Glycogen storage disorder XIV; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:25:50.334715+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PGM1 as ready",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:25:50.321908+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pgm1 has been classified as Green List (High Evidence).",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:25:42.895630+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PGM1 were changed from to Congenital disorder of glycosylation, type It 614921; Glycogen storage disorder XIV",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:25:12.934474+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PGM1 were set to ",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:24:29.540213+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PGM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:23:59.613736+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PGM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19625727, 24499211; Phenotypes: Congenital disorder of glycosylation, type It 614921, Glycogen storage disorder XIV; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:21:03.293564+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PHKA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PHKA1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:20:42.112413+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PHKA1: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PHKA1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:20:20.545603+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHKA1 as ready",
"entity_name": "PHKA1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:20:20.536533+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phka1 has been classified as Green List (High Evidence).",
"entity_name": "PHKA1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:20:13.206142+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PHKA1 were changed from to Muscle glycogenosis, MIM# 300559",
"entity_name": "PHKA1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:19:55.326412+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PHKA1 were set to ",
"entity_name": "PHKA1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:19:37.103947+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PHKA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PHKA1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:19:17.189074+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PHKA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7874115, 12825073, 9731190; Phenotypes: Muscle glycogenosis, MIM# 300559; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PHKA1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:18:30.537770+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHKA1 as ready",
"entity_name": "PHKA1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:18:30.529241+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phka1 has been classified as Green List (High Evidence).",
"entity_name": "PHKA1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:18:26.837747+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PHKA1 were changed from to Muscle glycogenosis, MIM# 300559",
"entity_name": "PHKA1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:17:31.502921+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PHKA1 were set to ",
"entity_name": "PHKA1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:16:56.100808+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PHKA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PHKA1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:16:24.067010+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PHKA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7874115, 12825073, 9731190; Phenotypes: Muscle glycogenosis, MIM# 300559; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PHKA1",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:12:57.853197+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHKB as ready",
"entity_name": "PHKB",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:12:57.842402+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phkb has been classified as Green List (High Evidence).",
"entity_name": "PHKB",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:12:50.089323+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PHKB were changed from to Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750; Glycogen storage disease IXb, MONDO:0009868",
"entity_name": "PHKB",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:12:31.472568+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PHKB were set to ",
"entity_name": "PHKB",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:12:13.621283+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PHKB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PHKB",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:11:55.734643+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PHKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 9215682, 25266922, 30659246; Phenotypes: Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750, Glycogen storage disease IXb, MONDO:0009868; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PHKB",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:11:02.141705+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHKB as ready",
"entity_name": "PHKB",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:11:02.132653+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phkb has been classified as Green List (High Evidence).",
"entity_name": "PHKB",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:10:57.119027+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PHKB were changed from to Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750; Glycogen storage disease IXb, MONDO:0009868",
"entity_name": "PHKB",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:10:19.459648+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PHKB were set to ",
"entity_name": "PHKB",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:09:48.628663+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PHKB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PHKB",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:09:11.161399+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PHKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 9215682, 25266922, 30659246; Phenotypes: Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750, Glycogen storage disease IXb; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PHKB",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:06:07.815011+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHKG2 as ready",
"entity_name": "PHKG2",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:06:07.799527+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phkg2 has been classified as Green List (High Evidence).",
"entity_name": "PHKG2",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:06:00.351026+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PHKG2 were changed from to Glycogen storage disease IXc, MIM# 613027",
"entity_name": "PHKG2",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:05:42.561034+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PHKG2 were set to ",
"entity_name": "PHKG2",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:05:23.529607+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PHKG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PHKG2",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:05:06.126598+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PHKG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8896567, 9384616, 10905889; Phenotypes: Glycogen storage disease IXc, MIM# 613027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PHKG2",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:04:16.002582+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHKG2 as ready",
"entity_name": "PHKG2",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:04:15.992451+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phkg2 has been classified as Green List (High Evidence).",
"entity_name": "PHKG2",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:04:07.040395+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHKG2 as ready",
"entity_name": "PHKG2",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:04:07.032177+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phkg2 has been classified as Green List (High Evidence).",
"entity_name": "PHKG2",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:03:55.600246+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PHKG2 as Green List (high evidence)",
"entity_name": "PHKG2",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:03:55.589929+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phkg2 has been classified as Green List (High Evidence).",
"entity_name": "PHKG2",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:03:54.052151+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PHKG2 were changed from to Glycogen storage disease IXc, MIM# 613027",
"entity_name": "PHKG2",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:03:47.326198+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHKG2 was added\ngene: PHKG2 was added to Liver Failure_Paediatric. Sources: Expert Review\nMode of inheritance for gene: PHKG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PHKG2 were set to 8896567; 9384616; 10905889\nPhenotypes for gene: PHKG2 were set to Glycogen storage disease IXc, MIM# 613027\nReview for gene: PHKG2 was set to GREEN\nAdded comment: Glycogen storage disease IXc is characterized by onset in childhood of hepatomegaly, hypotonia, growth retardation in childhood, and liver dysfunction. These symptoms improve with age in most cases; however, some patients may develop hepatic fibrosis or cirrhosis. \nSources: Expert Review",
"entity_name": "PHKG2",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:02:59.626407+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PHKG2 were set to ",
"entity_name": "PHKG2",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:02:28.820037+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PHKG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PHKG2",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:01:57.381566+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PHKG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8896567, 9384616, 10905889; Phenotypes: Glycogen storage disease IXc, MIM# 613027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PHKG2",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:00:15.543868+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRKAG2 as ready",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:00:15.533489+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkag2 has been classified as Green List (High Evidence).",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2021-03-06T18:00:12.379578+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKAG2 were changed from to Glycogen storage disease of heart, lethal congenital, MIM# 261740",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:59:46.318241+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRKAG2 were set to ",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:59:17.292589+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRKAG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:58:48.017581+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15877279, 17667862, 32646569; Phenotypes: Glycogen storage disease of heart, lethal congenital, MIM# 261740; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:55:03.245971+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PYGL as ready",
"entity_name": "PYGL",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:55:03.237345+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pygl has been classified as Green List (High Evidence).",
"entity_name": "PYGL",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:54:58.540070+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PYGL as Green List (high evidence)",
"entity_name": "PYGL",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:54:58.529694+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pygl has been classified as Green List (High Evidence).",
"entity_name": "PYGL",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:54:49.323473+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PYGL was added\ngene: PYGL was added to Liver Failure_Paediatric. Sources: Literature\nMode of inheritance for gene: PYGL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PYGL were set to 32892177\nPhenotypes for gene: PYGL were set to Glycogen storage disease VI, MIM# 232700\nReview for gene: PYGL was set to GREEN\nAdded comment: Progression to cirrhosis reported. \nSources: Literature",
"entity_name": "PYGL",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:53:44.347281+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PYGL as ready",
"entity_name": "PYGL",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:53:44.340149+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pygl has been classified as Green List (High Evidence).",
"entity_name": "PYGL",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:53:32.775906+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PYGL were changed from to Glycogen storage disease VI, MIM# 232700",
"entity_name": "PYGL",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:53:13.746716+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PYGL were set to ",
"entity_name": "PYGL",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:52:55.265205+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PYGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PYGL",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:52:35.878431+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PYGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 9529348, 9536091, 33505429, 32961316, 32892177; Phenotypes: Glycogen storage disease VI, MIM# 232700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PYGL",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:51:50.614903+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PYGL as ready",
"entity_name": "PYGL",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:51:50.602120+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pygl has been classified as Green List (High Evidence).",
"entity_name": "PYGL",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:51:46.488682+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PYGL were changed from to Glycogen storage disease VI, MIM# 232700",
"entity_name": "PYGL",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:51:23.267046+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PYGL were set to ",
"entity_name": "PYGL",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:50:53.233918+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PYGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PYGL",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:50:18.760152+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PYGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 9529348, 9536091, 33505429, 32961316, 32892177; Phenotypes: Glycogen storage disease VI, MIM# 232700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PYGL",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:46:26.760619+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NHLRC1 as ready",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:46:26.753361+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhlrc1 has been classified as Green List (High Evidence).",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:46:23.288693+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NHLRC1 were changed from to Epilepsy, progressive myoclonic 2B (Lafora) 254780",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:45:53.289297+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NHLRC1 were set to ",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:45:18.687342+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1027",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NHLRC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:44:47.348203+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1026",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NHLRC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21505799, 12958597; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora) 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:44:04.389486+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NHLRC1 as ready",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:44:04.377724+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhlrc1 has been classified as Green List (High Evidence).",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:43:52.070808+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NHLRC1 were changed from to Epilepsy, progressive myoclonic 2B (Lafora) 254780",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:43:21.938035+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NHLRC1 were set to ",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2021-03-06T17:42:51.553644+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NHLRC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NHLRC1",
"entity_type": "gene"
}
]
}