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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1662",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1660",
"results": [
{
"created": "2020-08-23T16:14:20.660062+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DDC were set to ",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2020-08-23T16:13:52.484112+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DDC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2020-08-23T16:13:25.258699+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20505134; Phenotypes: Aromatic L-amino acid decarboxylase deficiency, MIM# 608643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2020-08-23T16:11:44.196668+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DBH as ready",
"entity_name": "DBH",
"entity_type": "gene"
},
{
"created": "2020-08-23T16:11:44.188689+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dbh has been classified as Green List (High Evidence).",
"entity_name": "DBH",
"entity_type": "gene"
},
{
"created": "2020-08-23T16:11:37.106586+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DBH were changed from to Dopamine beta-hydroxylase deficiency, MIM#223360",
"entity_name": "DBH",
"entity_type": "gene"
},
{
"created": "2020-08-23T16:11:19.142758+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DBH were set to ",
"entity_name": "DBH",
"entity_type": "gene"
},
{
"created": "2020-08-23T16:11:02.006902+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DBH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DBH",
"entity_type": "gene"
},
{
"created": "2020-08-23T16:10:46.726371+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DBH: Rating: GREEN; Mode of pathogenicity: None; Publications: 11857564; Phenotypes: Dopamine beta-hydroxylase deficiency, MIM#223360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DBH",
"entity_type": "gene"
},
{
"created": "2020-08-23T16:10:02.215540+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARHGEF9 as ready",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2020-08-23T16:10:02.195499+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arhgef9 has been classified as Green List (High Evidence).",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2020-08-23T16:09:55.942686+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DBH as ready",
"entity_name": "DBH",
"entity_type": "gene"
},
{
"created": "2020-08-23T16:09:55.932616+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dbh has been classified as Green List (High Evidence).",
"entity_name": "DBH",
"entity_type": "gene"
},
{
"created": "2020-08-23T16:09:53.683647+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DBH were changed from to Dopamine beta-hydroxylase deficiency, MIM#223360",
"entity_name": "DBH",
"entity_type": "gene"
},
{
"created": "2020-08-23T16:09:33.062383+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DBH were set to ",
"entity_name": "DBH",
"entity_type": "gene"
},
{
"created": "2020-08-23T16:09:02.892722+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DBH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DBH",
"entity_type": "gene"
},
{
"created": "2020-08-23T16:08:38.952246+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DBH: Rating: GREEN; Mode of pathogenicity: None; Publications: 11857564; Phenotypes: Dopamine beta-hydroxylase deficiency, MIM#223360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DBH",
"entity_type": "gene"
},
{
"created": "2020-08-23T16:01:17.792735+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-08-23T15:56:06.757028+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARHGEF9 were changed from to Epileptic encephalopathy, early infantile, 8, MIM# 300607",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2020-08-23T15:55:36.006112+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.783",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARHGEF9 were set to ",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2020-08-23T15:55:12.729976+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.782",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARHGEF9 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2020-08-23T15:54:44.258024+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARHGEF9: Rating: GREEN; Mode of pathogenicity: None; Publications: 31942680, 30048823, 29130122, 28620718; Phenotypes: Epileptic encephalopathy, early infantile, 8, MIM# 300607; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2020-08-23T15:54:02.623835+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARHGEF9 as ready",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2020-08-23T15:54:02.613895+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arhgef9 has been classified as Green List (High Evidence).",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2020-08-23T15:53:56.827464+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARHGEF9 were changed from to Epileptic encephalopathy, early infantile, 8, MIM# 300607",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2020-08-23T15:53:42.365612+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARHGEF9 were set to ",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2020-08-23T15:53:27.142140+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARHGEF9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2020-08-23T15:53:08.782126+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARHGEF9: Rating: GREEN; Mode of pathogenicity: None; Publications: 31942680, 30048823, 29130122, 28620718; Phenotypes: Epileptic encephalopathy, early infantile, 8, MIM# 300607; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2020-08-23T15:52:04.917423+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARHGEF9 as ready",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2020-08-23T15:52:04.900967+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arhgef9 has been classified as Red List (Low Evidence).",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2020-08-23T15:52:02.534337+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARHGEF9 were changed from to Epileptic encephalopathy, early infantile, 8, MIM# 300607",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2020-08-23T15:51:37.970002+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARHGEF9 were set to ",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2020-08-23T15:51:12.692480+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARHGEF9 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2020-08-23T15:50:52.226848+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARHGEF9 as Red List (low evidence)",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2020-08-23T15:50:52.216438+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arhgef9 has been classified as Red List (Low Evidence).",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2020-08-23T15:50:26.114052+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARHGEF9: Rating: RED; Mode of pathogenicity: None; Publications: 31942680, 30048823, 29130122, 28620718; Phenotypes: Epileptic encephalopathy, early infantile, 8, MIM# 300607; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2020-08-23T15:42:18.806054+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALPL as ready",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2020-08-23T15:42:18.795661+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alpl has been classified as Red List (Low Evidence).",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2020-08-23T15:39:19.165175+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALPL were changed from to Hypophosphatasia",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2020-08-23T15:38:53.232732+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALPL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2020-08-23T15:38:28.541295+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALPL as Red List (low evidence)",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2020-08-23T15:38:28.533295+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alpl has been classified as Red List (Low Evidence).",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2020-08-23T15:38:05.486605+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALPL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypophosphatasia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2020-08-23T15:02:44.292200+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STAT5B as ready",
"entity_name": "STAT5B",
"entity_type": "gene"
},
{
"created": "2020-08-23T15:02:44.281478+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stat5b has been classified as Green List (High Evidence).",
"entity_name": "STAT5B",
"entity_type": "gene"
},
{
"created": "2020-08-23T15:02:30.452956+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STAT5B were changed from to Growth hormone insensitivity with immunodeficiency, MIM# 245590",
"entity_name": "STAT5B",
"entity_type": "gene"
},
{
"created": "2020-08-23T15:02:08.173165+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STAT5B were set to ",
"entity_name": "STAT5B",
"entity_type": "gene"
},
{
"created": "2020-08-23T15:01:49.261575+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: STAT5B was changed from to Other",
"entity_name": "STAT5B",
"entity_type": "gene"
},
{
"created": "2020-08-23T15:01:31.796035+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STAT5B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "STAT5B",
"entity_type": "gene"
},
{
"created": "2020-08-23T15:01:09.480998+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STAT5B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29844444; Phenotypes: Growth hormone insensitivity with immunodeficiency, MIM# 245590; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "STAT5B",
"entity_type": "gene"
},
{
"created": "2020-08-23T13:32:10.251152+10:00",
"panel_name": "Pharmacogenomics_Paediatric",
"panel_id": 3271,
"panel_version": "0.49",
"user_name": "David Metz",
"item_type": "entity",
"text": "commented on gene: TPMT: In newborn infants, peripheral blood TPMT activity is 50% greater than in race-matched adults and shows a distribution of activity consistent with the polymorphism characterized in adults.",
"entity_name": "TPMT",
"entity_type": "gene"
},
{
"created": "2020-08-23T13:03:16.601458+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH7A1 as ready",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2020-08-23T13:03:16.593319+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh7a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2020-08-23T13:03:13.921497+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALDH7A1 were changed from to Epilepsy, pyridoxine-dependent, MIM# 266100",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2020-08-23T13:02:42.846913+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALDH7A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2020-08-23T13:02:19.273412+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALDH7A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, pyridoxine-dependent, MIM# 266100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:52:22.502384+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH5A1 as ready",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:52:22.492854+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh5a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:52:08.960666+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALDH5A1 were changed from to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:51:52.756832+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALDH5A1 were set to ",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:51:32.785687+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALDH5A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:51:11.091795+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALDH5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9683595, 14635103, 32402538; Phenotypes: Succinic semialdehyde dehydrogenase deficiency, MIM# 271980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:50:10.562496+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH5A1 as ready",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:50:10.551868+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh5a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:50:07.260970+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALDH5A1 were changed from to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:49:40.231497+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.780",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALDH5A1 were set to ",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:49:20.868258+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALDH5A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:47:35.748060+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALDH5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9683595, 14635103, 32402538; Phenotypes: Succinic semialdehyde dehydrogenase deficiency, MIM# 271980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:46:53.563974+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH5A1 as ready",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:46:53.555772+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh5a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:46:21.687179+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALDH5A1 were changed from to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:46:00.737682+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALDH5A1 were set to ",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:45:37.659781+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALDH5A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:45:10.239280+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALDH5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9683595, 14635103, 32402538; Phenotypes: Succinic semialdehyde dehydrogenase deficiency, MIM# 271980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:42:42.904732+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABAT as ready",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:42:42.895017+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abat has been classified as Green List (High Evidence).",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:42:36.422615+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABAT were changed from to GABA-transaminase deficiency, MIM# 613163; mtDNA depletion syndrome (MDS)",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:42:19.934318+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABAT were set to ",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:41:56.606458+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:41:50.238286+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ABAT: Added comment: Bi-allelic variants in ABAT are associated with a neurotransmitter disorder. However, there are also reports of families with encephalomyopathic MDS caused by bi-allelic variants in ABAT resulting in elevated GABA in subjects' brains as well as decreased mtDNA levels in subjects' fibroblasts. Nucleoside rescue and co-IP experiments demonstrate that ABAT functions in the mitochondrial nucleoside salvage pathway to facilitate conversion of dNDPs to dNTPs. Unclear whether this a distinct disorder or part of a continuum caused by the enzyme being part of two pathways.; Changed publications: 25738457, 27903293, 28411234, 27596361, 20052547, 10407778, 6148708; Changed phenotypes: GABA-transaminase deficiency, MIM# 613163, mtDNA depletion syndrome (MDS)",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:40:36.202247+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:40:04.015798+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABAT as ready",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:40:03.997933+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abat has been classified as Red List (Low Evidence).",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:40:01.786516+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABAT were changed from to GABA-transaminase deficiency, MIM# 613163",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:39:39.699561+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:39:10.603196+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ABAT as Red List (low evidence)",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:39:10.593357+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abat has been classified as Red List (Low Evidence).",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:38:44.996955+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABAT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: GABA-transaminase deficiency, MIM# 613163; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:33:31.664726+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABAT as ready",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:33:31.653456+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abat has been classified as Red List (Low Evidence).",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:33:28.271336+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABAT were changed from to GABA-transaminase deficiency, MIM#613163",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:33:06.171441+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABAT were set to ",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:32:39.780445+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:32:18.974729+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ABAT as Red List (low evidence)",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:32:18.964947+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abat has been classified as Red List (Low Evidence).",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:31:51.561600+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least 5 patients from unrelated families reported in the literature, severe ID is part of the phenotype; to: At least 5 patients from unrelated families reported in the literature, severe ID is part of the phenotype. However, predominant MRI finding is that of abnormal myelination. In a series of 10 individuals in PMID 28411234, none had CC abnormalities. CC abnormalities appear to have only been reported in a single individual in PMID 10407778.",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:30:05.454937+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ABAT: Changed rating: RED; Changed publications: 10407778, 20052547, 27596361, 28411234",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:13:33.047115+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABAT as ready",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:13:33.035034+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abat has been classified as Green List (High Evidence).",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2020-08-23T12:12:28.488448+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABAT were changed from to mtDNA depletion syndrome (MDS)",
"entity_name": "ABAT",
"entity_type": "gene"
}
]
}