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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1070",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1068",
"results": [
{
"created": "2021-12-30T08:08:19.512921+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP8B1 were changed from to Cholestasis, progressive familial intrahepatic 1, MIM# 211600; Cholestasis, benign recurrent intrahepatic, MIM# 243300; Cholestasis, intrahepatic, of pregnancy, 1, MIM#\t147480",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:07:48.434053+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP8B1 were changed from Cholestasis, progressive familial intrahepatic 1, MIM# 211600; Cholestasis, benign recurrent intrahepatic, MIM#\t243300 to Cholestasis, progressive familial intrahepatic 1, MIM# 211600; Cholestasis, benign recurrent intrahepatic, MIM#\t243300; Cholestasis, intrahepatic, of pregnancy, 1, MIM#\t147480",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:07:22.700543+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP8B1 were set to ",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:07:11.686193+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP8B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:06:51.923075+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP8B1 were changed from to Cholestasis, progressive familial intrahepatic 1, MIM# 211600; Cholestasis, benign recurrent intrahepatic, MIM#\t243300",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:06:23.569739+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP8B1: Changed phenotypes: Cholestasis, progressive familial intrahepatic 1, MIM# 211600, Cholestasis, benign recurrent intrahepatic, MIM# 243300",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:06:15.309625+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10385",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP8B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:06:00.431672+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP8B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15239083; Phenotypes: Cholestasis, progressive familial intrahepatic 1, MIM# 211600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:05:26.896544+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP8B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15239083; Phenotypes: Cholestasis, progressive familial intrahepatic 1, MIM# 211600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:04:18.808945+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP8B1 as ready",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:04:18.797599+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp8b1 has been classified as Red List (Low Evidence).",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:04:12.595919+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP8B1 were changed from ATP8B1-RELATED INTRAHEPATIC CHOLESTASIS to Cholestasis, progressive familial intrahepatic 1, MIM# 211600",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:03:56.547081+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP8B1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholestasis, progressive familial intrahepatic 1, MIM# 211600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:02:39.615949+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6V1B1 as ready",
"entity_name": "ATP6V1B1",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:02:39.602060+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v1b1 has been classified as Red List (Low Evidence).",
"entity_name": "ATP6V1B1",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:02:33.210488+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP6V1B1 were changed from DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS to Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300",
"entity_name": "ATP6V1B1",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:02:08.850303+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP6V1B1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP6V1B1",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:00:57.946746+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP1A3 as ready",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:00:57.935942+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp1a3 has been classified as Green List (High Evidence).",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:00:54.037017+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP1A3 were changed from RAPID-ONSET DYSTONIA-PARKINSONISM; ALTERNATING HEMIPLEGIA OF CHILDHOOD to Developmental and epileptic encephalopathy 99, MIM# 619606; Polymicrogyria",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:00:40.595072+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP1A3 were set to ",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:00:27.640006+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP1A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:00:17.691079+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP1A3 as Green List (high evidence)",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:00:17.679553+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp1a3 has been classified as Green List (High Evidence).",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-12-30T08:00:04.830881+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP1A3: Added comment: Individuals with PMG reported.; Changed publications: 33762331, 33880529; Changed phenotypes: Developmental and epileptic encephalopathy 99, MIM# 619606, Polymicrogyria",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-12-30T07:59:06.144203+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2021-12-30T07:58:06.265251+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP13A2 as ready",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2021-12-30T07:58:06.251115+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp13a2 has been classified as Red List (Low Evidence).",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2021-12-30T07:57:58.050147+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP13A2 were changed from PARKINSON DISEASE 9 to Kufor-Rakeb syndrome, MIM# 606693; Spastic paraplegia 78, autosomal recessive, MIM# 617225",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2021-12-30T07:57:44.012580+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP13A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Kufor-Rakeb syndrome, MIM# 606693, Spastic paraplegia 78, autosomal recessive, MIM# 617225; Mode of inheritance: None",
"entity_name": "ATP13A2",
"entity_type": "gene"
},
{
"created": "2021-12-30T07:56:22.556708+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATM as ready",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2021-12-30T07:56:22.545097+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atm has been classified as Red List (Low Evidence).",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2021-12-30T07:56:09.611991+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATM were changed from ATAXIA-TELANGIECTASIA to Ataxia-telangiectasia, MIM# 208900",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2021-12-30T07:55:44.582347+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia-telangiectasia, MIM# 208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2021-12-30T07:54:37.561212+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACAT1 as ready",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2021-12-30T07:54:37.551039+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acat1 has been classified as Red List (Low Evidence).",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2021-12-30T07:54:31.827880+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACAT1 were changed from ALPHA-METHYLACETOACETIC ACIDURIA to Alpha-methylacetoacetic aciduria, MIM# 203750",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2021-12-30T07:54:07.253768+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACADS as ready",
"entity_name": "ACADS",
"entity_type": "gene"
},
{
"created": "2021-12-30T07:54:07.240908+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acads has been classified as Red List (Low Evidence).",
"entity_name": "ACADS",
"entity_type": "gene"
},
{
"created": "2021-12-30T07:54:03.214898+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACADS were changed from SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY to Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470",
"entity_name": "ACADS",
"entity_type": "gene"
},
{
"created": "2021-12-30T07:53:35.276946+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACADM as ready",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2021-12-30T07:53:35.267158+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acadm has been classified as Red List (Low Evidence).",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2021-12-30T07:53:30.397444+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACADM were changed from MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY to Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2021-12-30T07:52:06.174207+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNF213 as ready",
"entity_name": "RNF213",
"entity_type": "gene"
},
{
"created": "2021-12-30T07:52:06.141782+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf213 has been classified as Green List (High Evidence).",
"entity_name": "RNF213",
"entity_type": "gene"
},
{
"created": "2021-12-30T07:51:49.303686+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNF213 were changed from to Susceptibility to Moyamoya disease 2, (MIM# 607151)",
"entity_name": "RNF213",
"entity_type": "gene"
},
{
"created": "2021-12-30T07:51:28.404105+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RNF213 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "RNF213",
"entity_type": "gene"
},
{
"created": "2021-12-30T07:50:46.186711+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DRD5 as ready",
"entity_name": "DRD5",
"entity_type": "gene"
},
{
"created": "2021-12-30T07:50:46.137210+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: drd5 has been classified as Red List (Low Evidence).",
"entity_name": "DRD5",
"entity_type": "gene"
},
{
"created": "2021-12-30T07:50:25.757408+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DRD5 as Red List (low evidence)",
"entity_name": "DRD5",
"entity_type": "gene"
},
{
"created": "2021-12-30T07:50:25.747147+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: drd5 has been classified as Red List (Low Evidence).",
"entity_name": "DRD5",
"entity_type": "gene"
},
{
"created": "2021-12-30T07:49:43.387405+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AXIN1 as ready",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2021-12-30T07:49:43.378206+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: axin1 has been classified as Red List (Low Evidence).",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2021-12-30T07:49:35.190406+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AXIN1 were changed from to Caudal duplication anomaly, MIM# 607864",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2021-12-30T07:48:03.286240+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AXIN1 were set to ",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2021-12-30T07:47:43.276857+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AXIN1 as Red List (low evidence)",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2021-12-30T07:47:43.266034+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: axin1 has been classified as Red List (Low Evidence).",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2021-12-29T18:29:30.867000+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AXIN1: Rating: RED; Mode of pathogenicity: None; Publications: 9335612; Phenotypes: Caudal duplication anomaly, MIM# 607864; Mode of inheritance: None",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2021-12-29T18:27:43.199804+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASL as ready",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2021-12-29T18:27:43.190809+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asl has been classified as Red List (Low Evidence).",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2021-12-29T17:34:28.045040+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASL as ready",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2021-12-29T17:34:28.034794+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asl has been classified as Green List (High Evidence).",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2021-12-29T17:28:33.197724+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASL were set to ",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2021-12-29T17:28:12.369681+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASL were changed from to Argininosuccinic aciduria MIM#207900; Urea cycle disorders and inherited hyperammonaemias; disorder of amino acid metabolism",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2021-12-29T17:28:00.553040+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASL were changed from ARGININOSUCCINATE LYASE DEFICIENCY to Argininosuccinic aciduria, MIM#207900",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2021-12-29T17:27:42.198272+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2021-12-29T17:27:11.169901+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Intellectual disability is a feature of this metabolic condition.; to: Onset is typically post-natal.",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2021-12-29T17:26:59.019487+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ASL: Changed rating: RED",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2021-12-29T17:25:51.720772+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARG1 as ready",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2021-12-29T17:25:51.710746+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arg1 has been classified as Green List (High Evidence).",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2021-12-29T17:25:43.338020+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARG1 were changed from to Argininaemia MIM#207800; Urea cycle disorders and inherited hyperammonaemias; disorder of arginine metabolism",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2021-12-29T17:25:15.763517+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARG1 were set to ",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2021-12-29T17:24:57.294952+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2021-12-29T17:24:09.519260+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARG1 as ready",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2021-12-29T17:24:09.508549+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arg1 has been classified as Red List (Low Evidence).",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2021-12-29T17:24:06.202713+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARG1 were changed from ARGININEMIA to Argininaemia, MIM# 207800",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2021-12-29T17:23:52.419178+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Argininaemia, MIM# 207800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2021-12-29T17:20:51.784426+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TWIST2 as ready",
"entity_name": "TWIST2",
"entity_type": "gene"
},
{
"created": "2021-12-29T17:20:51.770895+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: twist2 has been classified as Green List (High Evidence).",
"entity_name": "TWIST2",
"entity_type": "gene"
},
{
"created": "2021-12-29T17:20:44.360327+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TWIST2 were changed from to Ablepharon-macrostomia syndrome, MIM# 200110; Barber-Say syndrome, MIM# 209885; Focal facial dermal dysplasia 3, Setleis type, MIM# 227260",
"entity_name": "TWIST2",
"entity_type": "gene"
},
{
"created": "2021-12-29T17:20:25.249461+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TWIST2 were set to ",
"entity_name": "TWIST2",
"entity_type": "gene"
},
{
"created": "2021-12-29T17:16:35.835147+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TWIST2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TWIST2",
"entity_type": "gene"
},
{
"created": "2021-12-29T17:16:08.735398+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TWIST2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26119818, 20691403, 21931173, 26119818; Phenotypes: Ablepharon-macrostomia syndrome, MIM# 200110, Barber-Say syndrome, MIM# 209885, Focal facial dermal dysplasia 3, Setleis type, MIM# 227260; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TWIST2",
"entity_type": "gene"
},
{
"created": "2021-12-29T17:13:30.485236+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TWIST2 were set to 26119818",
"entity_name": "TWIST2",
"entity_type": "gene"
},
{
"created": "2021-12-29T17:13:13.423117+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TWIST2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TWIST2",
"entity_type": "gene"
},
{
"created": "2021-12-29T16:12:37.263618+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10369",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: RNF213: Rating: GREEN; Mode of pathogenicity: None; Publications: 28635953; Phenotypes: usceptibility to Moyamoya disease 2, (MIM# 607151); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RNF213",
"entity_type": "gene"
},
{
"created": "2021-12-29T16:10:46.294320+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10369",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: DRD5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "DRD5",
"entity_type": "gene"
},
{
"created": "2021-12-29T16:08:44.665295+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10369",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: AXIN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "AXIN1",
"entity_type": "gene"
},
{
"created": "2021-12-29T14:08:19.545997+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APTX as ready",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2021-12-29T14:08:19.534909+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aptx has been classified as Green List (High Evidence).",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2021-12-29T14:08:17.026610+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: APTX were changed from Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; Ataxia with Oculomotor Apraxia; Early onset ataxia with oculomotor apraxia and hypoalbuminemia to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2021-12-29T14:07:40.783222+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: APTX were set to ",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2021-12-29T14:07:14.561356+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: None; Publications: 30986824, 26256098, 11586299; Phenotypes: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2021-12-29T14:06:22.099529+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APTX as ready",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2021-12-29T14:06:22.085758+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aptx has been classified as Green List (High Evidence).",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2021-12-29T14:06:14.042284+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: APTX were changed from to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2021-12-29T14:05:39.410450+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: APTX were set to ",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2021-12-29T14:05:19.955845+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: APTX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2021-12-29T14:05:00.781700+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: None; Publications: 30986824, 26256098, 11586299; Phenotypes: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2021-12-29T14:02:33.146437+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APTX as ready",
"entity_name": "APTX",
"entity_type": "gene"
}
]
}