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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1126",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1124",
"results": [
{
"created": "2021-11-18T11:26:31.157217+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MEIS2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MEIS2",
"entity_type": "gene"
},
{
"created": "2021-11-18T11:26:22.196748+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MEIS2 as Green List (high evidence)",
"entity_name": "MEIS2",
"entity_type": "gene"
},
{
"created": "2021-11-18T11:26:22.187241+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: meis2 has been classified as Green List (High Evidence).",
"entity_name": "MEIS2",
"entity_type": "gene"
},
{
"created": "2021-11-18T11:26:02.978107+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MEIS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33427397, 25712757; Phenotypes: Cleft palate, cardiac defects, and mental retardation (MIM#600987); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MEIS2",
"entity_type": "gene"
},
{
"created": "2021-11-18T11:25:02.232907+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MEIS2 as ready",
"entity_name": "MEIS2",
"entity_type": "gene"
},
{
"created": "2021-11-18T11:25:02.220049+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: meis2 has been classified as Green List (High Evidence).",
"entity_name": "MEIS2",
"entity_type": "gene"
},
{
"created": "2021-11-18T11:24:58.443319+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MEIS2 were changed from to Cleft palate, cardiac defects, and mental retardation (MIM#600987)",
"entity_name": "MEIS2",
"entity_type": "gene"
},
{
"created": "2021-11-18T11:24:24.044475+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MEIS2 were set to ",
"entity_name": "MEIS2",
"entity_type": "gene"
},
{
"created": "2021-11-18T11:23:55.872388+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MEIS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MEIS2",
"entity_type": "gene"
},
{
"created": "2021-11-18T11:23:20.095922+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MEIS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33427397, 25712757; Phenotypes: Cleft palate, cardiac defects, and mental retardation (MIM#600987); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MEIS2",
"entity_type": "gene"
},
{
"created": "2021-11-18T11:22:15.949178+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MEIS2 as ready",
"entity_name": "MEIS2",
"entity_type": "gene"
},
{
"created": "2021-11-18T11:22:15.937398+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: meis2 has been classified as Green List (High Evidence).",
"entity_name": "MEIS2",
"entity_type": "gene"
},
{
"created": "2021-11-18T11:22:04.056323+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MEIS2 were changed from to Cleft palate, cardiac defects, and mental retardation (MIM#600987)",
"entity_name": "MEIS2",
"entity_type": "gene"
},
{
"created": "2021-11-18T11:21:42.034543+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MEIS2 were set to ",
"entity_name": "MEIS2",
"entity_type": "gene"
},
{
"created": "2021-11-18T11:21:07.314123+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MEIS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MEIS2",
"entity_type": "gene"
},
{
"created": "2021-11-18T10:02:06.400458+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMA4 as ready",
"entity_name": "LAMA4",
"entity_type": "gene"
},
{
"created": "2021-11-18T10:02:06.383849+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lama4 has been classified as Red List (Low Evidence).",
"entity_name": "LAMA4",
"entity_type": "gene"
},
{
"created": "2021-11-18T09:59:39.639791+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMA4 were changed from to Cardiomyopathy, dilated, 1JJ (MIM#615235)",
"entity_name": "LAMA4",
"entity_type": "gene"
},
{
"created": "2021-11-18T09:59:21.792570+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LAMA4 were set to ",
"entity_name": "LAMA4",
"entity_type": "gene"
},
{
"created": "2021-11-18T09:59:02.683866+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAMA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LAMA4",
"entity_type": "gene"
},
{
"created": "2021-11-18T09:58:43.512041+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LAMA4 as Red List (low evidence)",
"entity_name": "LAMA4",
"entity_type": "gene"
},
{
"created": "2021-11-18T09:58:43.501758+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lama4 has been classified as Red List (Low Evidence).",
"entity_name": "LAMA4",
"entity_type": "gene"
},
{
"created": "2021-11-18T09:58:20.224107+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: LAMA4.",
"entity_name": "LAMA4",
"entity_type": "gene"
},
{
"created": "2021-11-18T09:56:51.812851+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LAMA4: Rating: RED; Mode of pathogenicity: None; Publications: 17646580, 26406308, 27532257; Phenotypes: Cardiomyopathy, dilated, 1JJ (MIM#615235); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LAMA4",
"entity_type": "gene"
},
{
"created": "2021-11-18T08:00:58.048041+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DSTYK as ready",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2021-11-18T08:00:58.037632+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dstyk has been classified as Red List (Low Evidence).",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2021-11-18T08:00:53.916684+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DSTYK were changed from CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 to Congenital anomalies of kidney and urinary tract 1, MIM# 610805; Spastic paraplegia 23, MIM# 270750",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2021-11-18T08:00:12.233576+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DSTYK were set to ",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2021-11-18T07:59:57.462741+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DSTYK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2021-11-18T07:58:16.929481+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DSTYK as Red List (low evidence)",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2021-11-18T07:58:16.917817+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dstyk has been classified as Red List (Low Evidence).",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2021-11-18T07:58:00.859025+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DSTYK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2021-11-18T07:55:20.021025+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DSTYK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2021-11-18T07:55:00.214296+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DSTYK as Amber List (moderate evidence)",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2021-11-18T07:55:00.202975+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dstyk has been classified as Amber List (Moderate Evidence).",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2021-11-18T07:54:42.479203+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DSTYK: Changed rating: AMBER",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2021-11-18T07:51:58.108283+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DSP as ready",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2021-11-18T07:51:58.098542+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dsp has been classified as Green List (High Evidence).",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2021-11-18T07:51:53.263922+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DSP were changed from Arrhythmogenic right ventricular dysplasia 8 607450; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis 615821; Skin fragility-woolly hair syndrome 607655; Epidermolysis bullosa, lethal acantholytic 609638; Cardiomyopathy, dilated, with woolly hair and keratoderma 605676; Keratosis palmoplantaris striata II, 612908 to Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821; Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676; Epidermolysis bullosa, lethal acantholytic, MIM# 609638",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2021-11-18T07:50:30.807598+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DSP were set to 30993396",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2021-11-18T07:49:35.646802+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2021-11-17T18:08:16.235424+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP1A2 were changed from Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Developmental and epileptic encephalopathy, polymicrogyria to Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Developmental and epileptic encephalopathy 98, MIM# 619605",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-11-17T18:08:09.617117+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP1A2 were changed from Alternating hemiplegia of childhood 1, MIM# 104290; Developmental and epileptic encephalopathy, polymicrogyria to Alternating hemiplegia of childhood 1, MIM# 104290; Developmental and epileptic encephalopathy 98, MIM# 619605",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-11-17T18:07:33.819501+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP1A2: Changed phenotypes: Alternating hemiplegia of childhood 1, MIM# 104290, Developmental and epileptic encephalopathy 98, MIM# 619605",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-11-17T17:57:42.764930+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP1A2 were changed from developmental and epileptic encephalopathy; early or neonatal onset seizures, polymicrogyria to Developmental and epileptic encephalopathy 98, MIM# 619605",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-11-17T17:57:00.932076+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 98, MIM# 619605; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-11-17T17:56:34.163210+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP1A2 were changed from Alternating hemiplegia of childhood 1, MIM#104290; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Developmental and epileptic encephalopathy, polymicrogyria to Alternating hemiplegia of childhood 1, MIM#104290; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Developmental and epileptic encephalopathy 98, MIM# 619605",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-11-17T17:56:01.523374+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP1A2: Changed phenotypes: Alternating hemiplegia of childhood 1, MIM#104290, Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602, Developmental and epileptic encephalopathy 98, MIM# 619605",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-11-17T17:54:50.493899+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP1A2 were changed from Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Developmental and epileptic encephalopathy, polymicrogyria to Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Developmental and epileptic encephalopathy 98\t, MIM#619605",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-11-17T17:54:09.837095+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP1A2: Changed phenotypes: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602, Developmental and epileptic encephalopathy 98, MIM# 619605",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-11-17T17:53:07.525657+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP1A2 as ready",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-11-17T17:53:07.509123+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp1a2 has been classified as Green List (High Evidence).",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-11-17T17:53:03.971192+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP1A2 were changed from hydrops fetalis; arthrogryposis; microcephaly; extensive cortical malformations to Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Developmental and epileptic encephalopathy, polymicrogyria",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-11-17T17:52:51.624673+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP1A2 were set to 31608932; 30690204",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-11-17T17:52:39.120472+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP1A2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-11-17T17:52:24.830801+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP1A2 as Green List (high evidence)",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-11-17T17:52:24.821197+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp1a2 has been classified as Green List (High Evidence).",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-11-17T17:52:11.994532+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: ATP1A2: Three individuals from two unrelated families reported with balleliic LoF variants in this gene and hydrops/congenital abnormalities. Mouse model is perinatal lethal. This is a distinct phenotype from the mono allelic variants associated with alternating hemiplegia.",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-11-17T17:52:06.059915+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-11-17T17:51:53.077485+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP1A2: Changed phenotypes: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602, Developmental and epileptic encephalopathy, polymicrogyria; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-11-17T17:51:36.127567+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP1A2: Changed publications: 30690204, 31608932, 33880529",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-11-17T17:51:00.292305+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP1A2: Changed publications: 30690204, 31608932; Changed phenotypes: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-11-17T17:50:32.665692+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP1A2 were changed from hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations to Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-11-17T17:49:55.078844+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP1A2: Changed rating: GREEN",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-11-17T17:49:48.346883+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP1A2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Mode of inheritance: None",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-11-17T17:49:32.656904+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP1A2 were changed from Alternating hemiplegia of childhood 1, MIM#104290; Hydrops fetalis, microcephaly, arthrogryposis, extensive cortical malformations; Developmental and epileptic encephalopathy, polymicrogyria to Alternating hemiplegia of childhood 1, MIM#104290; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Developmental and epileptic encephalopathy, polymicrogyria",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-11-17T17:49:09.888781+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP1A2: Changed phenotypes: Alternating hemiplegia of childhood 1, MIM#104290, Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602, Developmental and epileptic encephalopathy, polymicrogyria",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-11-17T17:48:43.119795+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP1A2 were changed from hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations to Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-11-17T17:48:11.830780+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP1A2: Changed phenotypes: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602, hydrops fetalis, microcephaly, arthrogryposis, extensive cortical malformations",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-11-17T17:48:09.365112+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP1A2 were changed from hydrops; arthrogryposis; microcephaly; malformations of cortical development; dysmorphic features; severe respiratory insufficiency to Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; hydrops; arthrogryposis; microcephaly; malformations of cortical development; dysmorphic features; severe respiratory insufficiency",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-11-17T17:47:44.084430+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP1A2 were changed from Hydrops fetalis, microcephaly, arthrogryposis, extensive cortical malformations; Developmental and epileptic encephalopathy, polymicrogyria to Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Developmental and epileptic encephalopathy, polymicrogyria",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-11-17T17:47:39.717059+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP1A2: Changed phenotypes: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602, hydrops, arthrogryposis, microcephaly, malformations of cortical development, dysmorphic features, severe respiratory insufficiency",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-11-17T17:47:04.576200+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP1A2 were set to 31608932",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-11-17T17:44:44.787829+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP1A2: Changed phenotypes: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602, Developmental and epileptic encephalopathy, polymicrogyria",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2021-11-17T17:31:27.344393+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9763",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: NR4A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "NR4A3",
"entity_type": "gene"
},
{
"created": "2021-11-17T17:31:10.174890+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.535",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: None; Publications: 28157540,23862974; Phenotypes: Spastic paraplegia 23, MIM# 270750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2021-11-17T17:13:40.072932+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.535",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: 16467215,23137101,26604139, 22795705,31983221,24108106,16175511,20302578,20613772; Phenotypes: Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821, Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2021-11-17T10:22:12.455011+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRKG2 were set to 33106379",
"entity_name": "PRKG2",
"entity_type": "gene"
},
{
"created": "2021-11-17T10:21:51.198418+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRKG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34782440; Phenotypes: Acromesomelic dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRKG2",
"entity_type": "gene"
},
{
"created": "2021-11-17T10:21:04.064240+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRKG2 were set to 33106379",
"entity_name": "PRKG2",
"entity_type": "gene"
},
{
"created": "2021-11-17T10:20:27.562974+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRKG2: Added comment: PMID 34782440: 4 further families reported.; Changed publications: 33106379, 34782440",
"entity_name": "PRKG2",
"entity_type": "gene"
},
{
"created": "2021-11-17T09:49:11.854287+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED17 as ready",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2021-11-17T09:49:11.819999+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med17 has been classified as Green List (High Evidence).",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2021-11-17T09:49:07.383292+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED17 were changed from MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY to Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2021-11-17T09:48:53.979424+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MED17 were set to ",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2021-11-17T09:45:58.952070+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MED17 as Green List (high evidence)",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2021-11-17T09:45:58.940539+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med17 has been classified as Green List (High Evidence).",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2021-11-17T09:45:46.865202+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 5 individuals from 3 families now reported with intellectual disability and variable other neurological features including ataxia and seizures.; to: Over 10 families now reported with intellectual disability and variable other neurological features including ataxia, microcephaly and seizures. Note the c.1112T>C (p.L371P) variant is a founder variant in the Caucasus-Jewish families.",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2021-11-17T09:45:32.296930+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MED17: Changed publications: 30345598, 33756211",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2021-11-17T09:44:53.055327+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: MED17.",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2021-11-17T09:44:40.249843+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MED17: Changed publications: 30345598, 33756211",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2021-11-17T09:44:30.130433+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 5 individuals from 3 families now reported with intellectual disability and variable other neurological features including ataxia and seizures.; to: Over 10 families now reported with intellectual disability and variable other neurological features including ataxia, microcephaly and seizures.\r\n\r\nNote the c.1112T>C (p.L371P) variant is a founder variant in the Caucasus-Jewish families.",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:58:32.156197+11:00",
"panel_name": "Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNTNAP2 as ready",
"entity_name": "CNTNAP2",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:58:32.145935+11:00",
"panel_name": "Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cntnap2 has been classified as Green List (High Evidence).",
"entity_name": "CNTNAP2",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:58:27.754297+11:00",
"panel_name": "Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CNTNAP2 as Green List (high evidence)",
"entity_name": "CNTNAP2",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:58:27.745332+11:00",
"panel_name": "Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cntnap2 has been classified as Green List (High Evidence).",
"entity_name": "CNTNAP2",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:57:58.981806+11:00",
"panel_name": "Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CNTNAP2 was added\ngene: CNTNAP2 was added to Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly. Sources: Expert Review\nMode of inheritance for gene: CNTNAP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CNTNAP2 were set to 16571880; 19896112; 27439707\nPhenotypes for gene: CNTNAP2 were set to Cortical dysplasia-focal epilepsy syndrome, MIM# 610042\nReview for gene: CNTNAP2 was set to GREEN\nAdded comment: More than 10 unrelated families reported, with a Pitt-Hopkins like syndrome. Typical clinical features include delayed psychomotor development, intellectual disability, severe speech impairment or regression, and behavioural abnormalities. Most patients have onset of seizures within the first years of life. Some patients may have cortical dysplasia on brain imaging. \nSources: Expert Review",
"entity_name": "CNTNAP2",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:57:12.648865+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNTNAP2 as ready",
"entity_name": "CNTNAP2",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:57:12.638927+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cntnap2 has been classified as Green List (High Evidence).",
"entity_name": "CNTNAP2",
"entity_type": "gene"
},
{
"created": "2021-11-17T00:56:44.635083+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CNTNAP2 were changed from to Cortical dysplasia-focal epilepsy syndrome, MIM# 610042",
"entity_name": "CNTNAP2",
"entity_type": "gene"
}
]
}