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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1455",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1453",
"results": [
{
"created": "2021-01-02T18:08:49.282459+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLUD1 were changed from to Hyperinsulinism-hyperammonemia syndrome, MIM# 606762",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2021-01-02T18:08:13.000832+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLUD1 were set to ",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2021-01-02T18:07:44.245642+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLUD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2021-01-02T18:07:14.806006+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GLUD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11214910, 11297618; Phenotypes: Hyperinsulinism-hyperammonemia syndrome, MIM# 606762; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2021-01-02T14:59:43.272845+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ETFDH as ready",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2021-01-02T14:59:43.264743+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: etfdh has been classified as Green List (High Evidence).",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2021-01-02T14:59:41.113644+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ETFDH were changed from to Glutaric acidemia IIC, MIM# 231680",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2021-01-02T14:59:10.279431+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ETFDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2021-01-02T14:58:40.020434+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIC, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2021-01-02T14:57:47.463416+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ETFB as ready",
"entity_name": "ETFB",
"entity_type": "gene"
},
{
"created": "2021-01-02T14:57:47.450043+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: etfb has been classified as Green List (High Evidence).",
"entity_name": "ETFB",
"entity_type": "gene"
},
{
"created": "2021-01-02T14:57:45.004460+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ETFB were changed from to Glutaric acidemia IIB, MIM# 231680",
"entity_name": "ETFB",
"entity_type": "gene"
},
{
"created": "2021-01-02T14:57:16.097708+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ETFB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ETFB",
"entity_type": "gene"
},
{
"created": "2021-01-02T14:56:48.263512+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ETFB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIB, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ETFB",
"entity_type": "gene"
},
{
"created": "2021-01-02T14:55:29.565983+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: ETFA: Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.\r\n\r\nThe heterogeneous clinical features of MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in those with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress.",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2021-01-02T14:54:12.182817+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ETFA as ready",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2021-01-02T14:54:12.172569+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: etfa has been classified as Green List (High Evidence).",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2021-01-02T14:53:46.077733+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ETFA were changed from to Glutaric acidemia IIA, MIM# 231680",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2021-01-02T14:53:14.890925+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ETFA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2021-01-02T14:52:45.938969+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ETFA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIA, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2021-01-01T17:37:00.036299+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CPT2 as ready",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2021-01-01T17:37:00.024540+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpt2 has been classified as Green List (High Evidence).",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2021-01-01T17:36:56.882549+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CPT2 were changed from to CPT II deficiency, infantile 600649; CPT II deficiency, lethal neonatal 608836; CPT II deficiency, myopathic, stress-induced 255110",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2021-01-01T17:36:27.889258+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CPT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2021-01-01T17:35:58.817713+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CPT II deficiency, infantile 600649, CPT II deficiency, lethal neonatal 608836, CPT II deficiency, myopathic, stress-induced 255110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2020-12-31T16:39:13.299010+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CPT1A as ready",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2020-12-31T16:39:13.287648+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpt1a has been classified as Green List (High Evidence).",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2020-12-31T16:39:09.369426+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CPT1A were changed from to CPT deficiency, hepatic, type IA, MIM# 255120",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2020-12-31T16:38:46.409099+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CPT1A were set to ",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2020-12-31T16:38:22.549875+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CPT1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2020-12-31T16:37:53.262560+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CPT1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 12189492; Phenotypes: CPT deficiency, hepatic, type IA, MIM# 255120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2020-12-31T14:20:39.690471+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFAP58 were changed from Multiple morphological abnormalities of the sperm flagella (MMAF) to Spermatogenic failure 49, MIM#619144; Multiple morphological abnormalities of the sperm flagella (MMAF)",
"entity_name": "CFAP58",
"entity_type": "gene"
},
{
"created": "2020-12-31T14:20:13.817483+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CFAP58: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 49, MIM#619144; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFAP58",
"entity_type": "gene"
},
{
"created": "2020-12-31T14:18:05.371957+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGPAT2 as ready",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2020-12-31T14:18:05.362956+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agpat2 has been classified as Green List (High Evidence).",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2020-12-31T14:17:58.141185+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGPAT2 were changed from to Lipodystrophy, congenital generalized, type 1, MIM# 608594",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2020-12-31T14:17:38.555244+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AGPAT2 were set to 32876150; 11967537",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2020-12-31T14:17:18.493212+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AGPAT2 were set to ",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2020-12-31T14:16:51.185456+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AGPAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2020-12-31T14:13:09.371053+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AGPAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32876150, 11967537; Phenotypes: Lipodystrophy, congenital generalized, type 1, MIM# 608594; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2020-12-31T14:11:43.840095+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AGPAT2 were set to 32876150",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2020-12-31T14:11:25.406419+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: AGPAT2.",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2020-12-31T14:11:15.794514+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AGPAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11967537; Phenotypes: Lipodystrophy, congenital generalized, type 1, MIM# 608594; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2020-12-31T14:00:43.560259+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGPAT2 as ready",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2020-12-31T14:00:43.550724+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agpat2 has been classified as Green List (High Evidence).",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2020-12-31T14:00:35.372157+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGPAT2 were changed from to Lipodystrophy, congenital generalized, type 1 MIM#608594",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2020-12-31T14:00:14.168812+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AGPAT2 were set to ",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2020-12-31T13:59:54.356803+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AGPAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2020-12-31T11:12:19.273435+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5888",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: AGPAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32876150; Phenotypes: Lipodystrophy, congenital generalized, type 1 MIM#608594; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:26:11.872367+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LPIN1 as ready",
"entity_name": "LPIN1",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:26:11.864287+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lpin1 has been classified as Green List (High Evidence).",
"entity_name": "LPIN1",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:25:58.333949+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LPIN1 were changed from to Myoglobinuria, acute recurrent, autosomal recessive, MIM# 268200",
"entity_name": "LPIN1",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:25:24.541194+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LPIN1 were set to ",
"entity_name": "LPIN1",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:25:03.821530+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LPIN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LPIN1",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:24:44.094314+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LPIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18817903, 32549891, 32522502, 32410653; Phenotypes: Myoglobinuria, acute recurrent, autosomal recessive, MIM# 268200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LPIN1",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:23:44.962062+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LPIN1 as ready",
"entity_name": "LPIN1",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:23:44.948209+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lpin1 has been classified as Green List (High Evidence).",
"entity_name": "LPIN1",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:23:41.980349+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LPIN1 were changed from to Myoglobinuria, acute recurrent, autosomal recessive, MIM# 268200",
"entity_name": "LPIN1",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:23:14.325769+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LPIN1 were set to ",
"entity_name": "LPIN1",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:22:45.047262+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LPIN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LPIN1",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:22:14.978623+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LPIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18817903, 32549891, 32522502, 32410653; Phenotypes: Myoglobinuria, acute recurrent, autosomal recessive, MIM# 268200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LPIN1",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:17:06.344983+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TAZ as ready",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:17:06.336307+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taz has been classified as Green List (High Evidence).",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:17:03.730357+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAZ were changed from to Barth syndrome, MIM# 302060",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:16:35.202498+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TAZ was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:13:28.591512+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MLYCD as ready",
"entity_name": "MLYCD",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:13:28.577568+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mlycd has been classified as Green List (High Evidence).",
"entity_name": "MLYCD",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:13:23.562147+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MLYCD were changed from to Malonyl-CoA decarboxylase deficiency, MIM# 248360",
"entity_name": "MLYCD",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:12:51.963327+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MLYCD were set to ",
"entity_name": "MLYCD",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:12:19.952125+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MLYCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MLYCD",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:11:46.575316+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 12955715; Phenotypes: Malonyl-CoA decarboxylase deficiency, MIM# 248360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MLYCD",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:11:06.773717+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MLYCD as ready",
"entity_name": "MLYCD",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:11:06.761300+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mlycd has been classified as Green List (High Evidence).",
"entity_name": "MLYCD",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:10:56.024995+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MLYCD were changed from to Malonyl-CoA decarboxylase deficiency, MIM# 248360",
"entity_name": "MLYCD",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:10:36.743678+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MLYCD were set to ",
"entity_name": "MLYCD",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:10:18.296381+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MLYCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MLYCD",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:09:58.810451+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 12955715; Phenotypes: Malonyl-CoA decarboxylase deficiency, MIM# 248360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MLYCD",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:09:13.843029+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MLYCD as ready",
"entity_name": "MLYCD",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:09:13.826312+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mlycd has been classified as Green List (High Evidence).",
"entity_name": "MLYCD",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:09:10.843755+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MLYCD were changed from to Malonyl-CoA decarboxylase deficiency, MIM# 248360",
"entity_name": "MLYCD",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:08:42.825963+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MLYCD were set to ",
"entity_name": "MLYCD",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:08:15.992551+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MLYCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MLYCD",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:07:45.308587+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 12955715; Phenotypes: Malonyl-CoA decarboxylase deficiency, MIM# 248360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MLYCD",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:04:13.041822+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A20 as ready",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2020-12-31T09:04:13.030800+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a20 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2020-12-31T08:50:43.911338+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A20 were changed from to Carnitine-acylcarnitine translocase deficiency, MIM# 212138",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2020-12-31T08:50:26.195219+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC25A20 were set to ",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2020-12-31T08:49:58.408461+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC25A20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2020-12-31T08:49:39.302417+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: None; Publications: 15363639, 15365988, 24088670; Phenotypes: Carnitine-acylcarnitine translocase deficiency, MIM# 212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2020-12-31T08:48:19.105187+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A20 as ready",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2020-12-31T08:48:19.094134+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a20 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2020-12-31T08:48:15.913654+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A20 were changed from to Carnitine-acylcarnitine translocase deficiency, MIM# 212138",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2020-12-31T08:47:48.637027+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC25A20 were set to ",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2020-12-31T08:47:15.600640+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC25A20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2020-12-31T08:46:45.176307+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: None; Publications: 15363639, 15365988, 24088670; Phenotypes: Carnitine-acylcarnitine translocase deficiency, MIM# 212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A20",
"entity_type": "gene"
},
{
"created": "2020-12-31T08:39:17.129855+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Barth syndrome, MIM# 302060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2020-12-30T16:57:21.618163+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SETX as ready",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2020-12-30T16:57:21.610449+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: setx has been classified as Green List (High Evidence).",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2020-12-30T16:57:17.799253+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETX were changed from dHMN/dSMA; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 to dHMN/dSMA; Amyotrophic lateral sclerosis 4, juvenile MIM# 602433; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2020-12-30T16:56:58.946273+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SETX were set to ",
"entity_name": "SETX",
"entity_type": "gene"
}
]
}