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{
"count": 220959,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1223",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1221",
"results": [
{
"created": "2021-08-30T20:51:00.935292+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4091",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PI4KA as Green List (high evidence)",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2021-08-30T20:51:00.925227+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4091",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pi4ka has been classified as Green List (High Evidence).",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2021-08-30T20:50:12.493636+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.232",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PI4KA as Green List (high evidence)",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2021-08-30T20:50:12.484115+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.232",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pi4ka has been classified as Green List (High Evidence).",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2021-08-30T20:50:04.122190+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4090",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PI4KA was added\ngene: PI4KA was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PI4KA were set to PMID: 34415322\nPhenotypes for gene: PI4KA were set to Neurodevelopmental syndrome with hypomyelinating leukodystrophy\nReview for gene: PI4KA was set to GREEN\nAdded comment: Used WES/WGS to identify 10 unrelated patients harbouring biallelic variants in PI4KA, and a spectrum of severe global neurodevelopmental delay, hypomyelination, and developmental brain abnormalities, and pure spastic paraplegia. Some patients presented immunological deficits or genito-urinary abnormalities. Western blotting and immunofluorescence showed decreased PI4KA levels in the patients' fibroblasts. Immunofluorescence and targeted lipidomics indicated that PI4KA activity was diminished in fibroblasts and peripheral blood mononuclear cells. \nSources: Literature",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2021-08-30T20:49:49.524215+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.231",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PI4KA was added\ngene: PI4KA was added to Leukodystrophy - paediatric. Sources: Literature\nMode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PI4KA were set to PMID: 34415322\nPhenotypes for gene: PI4KA were set to Neurodevelopmental syndrome with hypomyelinating leukodystrophy\nReview for gene: PI4KA was set to GREEN\nAdded comment: Used WES/WGS to identify 10 unrelated patients harbouring biallelic variants in PI4KA, and a spectrum of severe global neurodevelopmental delay, hypomyelination, and developmental brain abnormalities, and pure spastic paraplegia. Some patients presented immunological deficits or genito-urinary abnormalities. Western blotting and immunofluorescence showed decreased PI4KA levels in the patients' fibroblasts. Immunofluorescence and targeted lipidomics indicated that PI4KA activity was diminished in fibroblasts and peripheral blood mononuclear cells. \nSources: Literature",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2021-08-30T20:14:00.859958+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.113",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: OPDM1 as ready",
"entity_name": "OPDM1",
"entity_type": "str"
},
{
"created": "2021-08-30T20:14:00.850003+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.113",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: opdm1 has been classified as Green List (High Evidence).",
"entity_name": "OPDM1",
"entity_type": "str"
},
{
"created": "2021-08-30T20:13:51.041266+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.113",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: OPDM1 as Green List (high evidence)",
"entity_name": "OPDM1",
"entity_type": "str"
},
{
"created": "2021-08-30T20:13:51.026591+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.113",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: opdm1 has been classified as Green List (High Evidence).",
"entity_name": "OPDM1",
"entity_type": "str"
},
{
"created": "2021-08-30T20:13:40.806716+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.112",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: OPDM1 was added\nSTR: OPDM1 was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: OPDM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: OPDM1 were set to 31332380; 34047774\nPhenotypes for STR: OPDM1 were set to Oculopharyngodistal myopathy 1 MIM#164310\nReview for STR: OPDM1 was set to GREEN\nSTR: OPDM1 was marked as clinically relevant\nAdded comment: NM_013437.5:c.-102CGG[X]\r\nRNA-mediated toxicity is thought to be the mechanism of disease. Sixty-five Japanese patients with oculopharyngodistal myopathy (OPDM) from 59 families with CGG repeat expansions in LRP12. This represents the most common OPDM subtype among all patients in Japan with genetically diagnosed OPDM. \r\nNormal: 13 to 45 repeats.\r\nPathogenic: 85 to 289 repeats. \nSources: Expert list",
"entity_name": "OPDM1",
"entity_type": "str"
},
{
"created": "2021-08-30T19:45:30.335262+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.145",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: NIID as Green List (high evidence)",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-08-30T19:45:30.325032+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.145",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: niid has been classified as Green List (High Evidence).",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-08-30T19:44:52.706818+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.144",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: NIID was added\nSTR: NIID was added to Early-onset Dementia. Sources: Literature\nMode of inheritance for STR: NIID was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: NIID were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102; 34333668\nPhenotypes for STR: NIID were set to Neuronal intranuclear inclusion disease MIM#603472; Oculopharyngodistal myopathy 3 MIM#619473; Tremor, hereditary essential, 6 MIM#618866\nReview for STR: NIID was set to GREEN\nSTR: NIID was marked as clinically relevant\nAdded comment: NM_001364012.2:c.-164GGC[X]\r\nExpanded repeat in NOTCH2NLC sequence is (GGC)9(GGA)2(GGC)2.\r\nLarge number of families and sporadic cases reported with expansions, with a range of neurodegenerative phenotypes, including: dementia, Parkinsonism/tremor, peripheral neuropathy, leukoencephalopathy, myopathy, motor neurone disease.\r\nNormal repeat range: 4-40, 1 control had 61 repeats and may have been a presymptomatic carrier.\r\nIntermediate range: 41-60 identified in Parkinson's disease\r\nPathogenic repeat range: >=60-520\r\nMechanism of disease is translation of repeat expansion into a toxic polyglycine protein, identified in both mouse models and tissue samples from affected individuals. \nSources: Literature",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-08-30T19:41:57.086054+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.143",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed STR:NIID from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-08-30T19:41:19.299117+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.117",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: NIID as ready",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-08-30T19:41:19.289601+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.117",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: niid has been classified as Green List (High Evidence).",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-08-30T19:40:59.893825+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.117",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: NIID as Green List (high evidence)",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-08-30T19:40:59.883957+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.117",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: niid has been classified as Green List (High Evidence).",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-08-30T19:40:42.710874+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.116",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: NIID was added\nSTR: NIID was added to Hereditary Neuropathy - complex. Sources: Literature\nMode of inheritance for STR: NIID was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: NIID were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102; 34333668\nPhenotypes for STR: NIID were set to Neuronal intranuclear inclusion disease MIM#603472; Oculopharyngodistal myopathy 3 MIM#619473; Tremor, hereditary essential, 6 MIM#618866\nReview for STR: NIID was set to GREEN\nSTR: NIID was marked as clinically relevant\nAdded comment: NM_001364012.2:c.-164GGC[X]\r\nExpanded repeat in NOTCH2NLC sequence is (GGC)9(GGA)2(GGC)2.\r\nLarge number of families and sporadic cases reported with expansions, with a range of neurodegenerative phenotypes, including: dementia, Parkinsonism/tremor, peripheral neuropathy, leukoencephalopathy, myopathy, motor neurone disease.\r\nNormal repeat range: 4-40, 1 control had 61 repeats and may have been a presymptomatic carrier.\r\nIntermediate range: 41-60 identified in Parkinson's disease\r\nPathogenic repeat range: >=60-520\r\nMechanism of disease is translation of repeat expansion into a toxic polyglycine protein, identified in both mouse models and tissue samples from affected individuals. \nSources: Literature",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-08-30T19:38:30.621481+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.115",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed STR:NIID from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-08-30T19:29:37.202847+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.361",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: NIID as ready",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-08-30T19:29:37.192653+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.361",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: niid has been classified as Green List (High Evidence).",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-08-30T19:29:31.642201+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.361",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: NIID as Green List (high evidence)",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-08-30T19:29:31.632740+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.361",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: niid has been classified as Green List (High Evidence).",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-08-30T19:29:00.005134+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.360",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: NIID was added\nSTR: NIID was added to Regression. Sources: Literature\nMode of inheritance for STR: NIID was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: NIID were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102; 34333668\nPhenotypes for STR: NIID were set to Neuronal intranuclear inclusion disease MIM#603472; Oculopharyngodistal myopathy 3 MIM#619473; Tremor, hereditary essential, 6 MIM#618866\nReview for STR: NIID was set to GREEN\nSTR: NIID was marked as clinically relevant\nAdded comment: NM_001364012.2:c.-164GGC[X]\r\nExpanded repeat in NOTCH2NLC sequence is (GGC)9(GGA)2(GGC)2.\r\nLarge number of families and sporadic cases reported with expansions, with a range of neurodegenerative phenotypes, including: dementia, Parkinsonism/tremor, peripheral neuropathy, leukoencephalopathy, myopathy, motor neurone disease.\r\nNormal repeat range: 4-40, 1 control had 61 repeats and may have been a presymptomatic carrier.\r\nIntermediate range: 41-60 identified in Parkinson's disease\r\nPathogenic repeat range: >=60-520\r\nMechanism of disease is translation of repeat expansion into a toxic polyglycine protein, identified in both mouse models and tissue samples from affected individuals. \nSources: Literature",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-08-30T19:25:41.095674+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.359",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed STR:NIID from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-08-30T19:13:37.368743+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8981",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: NIID as ready",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-08-30T19:13:37.357310+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8981",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: niid has been classified as Green List (High Evidence).",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-08-30T19:11:11.826645+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8981",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: NIID as Green List (high evidence)",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-08-30T19:11:11.816543+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8981",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: niid has been classified as Green List (High Evidence).",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-08-30T19:10:09.312917+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8980",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: NIID was added\nSTR: NIID was added to Mendeliome. Sources: Literature\nMode of inheritance for STR: NIID was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: NIID were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102; 34333668\nPhenotypes for STR: NIID were set to Neuronal intranuclear inclusion disease MIM#603472; Oculopharyngodistal myopathy 3 MIM#619473; Tremor, hereditary essential, 6 MIM#618866\nReview for STR: NIID was set to GREEN\nSTR: NIID was marked as clinically relevant\nAdded comment: NM_001364012.2:c.-164GGC[X]\r\nExpanded repeat in NOTCH2NLC sequence is (GGC)9(GGA)2(GGC)2.\r\nLarge number of families and sporadic cases reported with expansions, with a range of neurodegenerative phenotypes, including: dementia, Parkinsonism/tremor, peripheral neuropathy, leukoencephalopathy, myopathy, motor neurone disease.\r\nNormal repeat range: 4-40, 1 control had 61 repeats and may have been a presymptomatic carrier.\r\nIntermediate range: 41-60 identified in Parkinson's disease\r\nPathogenic repeat range: >=60-520\r\nMechanism of disease is translation of repeat expansion into a toxic polyglycine protein, identified in both mouse models and tissue samples from affected individuals. \nSources: Literature",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-08-30T19:04:19.050040+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8979",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed STR:NIID from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-08-30T19:01:18.125906+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.120",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: NIID as ready",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-08-30T19:01:18.111872+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.120",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: niid has been classified as Green List (High Evidence).",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-08-30T19:01:06.882800+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.120",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: NIID as Green List (high evidence)",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-08-30T19:01:06.872072+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.120",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: niid has been classified as Green List (High Evidence).",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-08-30T19:00:34.181423+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.119",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: NIID was added\nSTR: NIID was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for STR: NIID was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: NIID were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102; 34333668\nPhenotypes for STR: NIID were set to Neuronal intranuclear inclusion disease MIM#603472; Oculopharyngodistal myopathy 3 MIM#619473; Tremor, hereditary essential, 6 MIM#618866\nReview for STR: NIID was set to GREEN\nSTR: NIID was marked as clinically relevant\nAdded comment: NM_001364012.2:c.-164GGC[X]\r\nExpanded repeat in NOTCH2NLC sequence is (GGC)9(GGA)2(GGC)2.\r\nLarge number of families and sporadic cases reported with expansions, with a range of neurodegenerative phenotypes, including: dementia, Parkinsonism/tremor, peripheral neuropathy, leukoencephalopathy, myopathy, motor neurone disease.\r\nNormal repeat range: 4-40, 1 control had 61 repeats and may have been a presymptomatic carrier.\r\nIntermediate range: 41-60 identified in Parkinson's disease\r\nPathogenic repeat range: >=60-520\r\nMechanism of disease is translation of repeat expansion into a toxic polyglycine protein, identified in both mouse models and tissue samples from affected individuals. \nSources: Literature",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-08-30T18:56:00.923362+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.118",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed STR:NIID from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-08-30T18:08:32.429424+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.111",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: NIID as ready",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-08-30T18:08:32.419579+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.111",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: niid has been classified as Green List (High Evidence).",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-08-30T18:08:23.881445+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.111",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: NIID as Green List (high evidence)",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-08-30T18:08:23.872231+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.111",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: niid has been classified as Green List (High Evidence).",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-08-30T18:08:09.293384+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.110",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: NIID was added\nSTR: NIID was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: NIID was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: NIID were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102; 34333668\nPhenotypes for STR: NIID were set to Neuronal intranuclear inclusion disease MIM#603472; Oculopharyngodistal myopathy 3 MIM#619473; Tremor, hereditary essential, 6 MIM#618866\nReview for STR: NIID was set to GREEN\nSTR: NIID was marked as clinically relevant\nAdded comment: NM_001364012.2:c.-164GGC[X]\r\nExpanded repeat in NOTCH2NLC sequence is (GGC)9(GGA)2(GGC)2.\r\nLarge number of families and sporadic cases reported with expansions, with a range of neurodegenerative phenotypes, including: dementia, Parkinsonism/tremor, peripheral neuropathy, leukoencephalopathy, myopathy, motor neurone disease.\r\nNormal repeat range: 4-40, 1 control had 61 repeats and may have been a presymptomatic carrier.\r\nIntermediate range: 41-60 identified in Parkinson's disease\r\nPathogenic repeat range: >=60-520\r\nMechanism of disease is translation of repeat expansion into a toxic polyglycine protein, identified in both mouse models and tissue samples from affected individuals. \nSources: Expert list",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-08-30T16:23:35.500158+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.109",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed STR:NIID from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-08-30T14:13:49.406651+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PITX2 as ready",
"entity_name": "PITX2",
"entity_type": "gene"
},
{
"created": "2021-08-30T14:13:49.395834+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pitx2 has been classified as Green List (High Evidence).",
"entity_name": "PITX2",
"entity_type": "gene"
},
{
"created": "2021-08-30T14:13:47.199504+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PITX2 were changed from AXENFELD-RIEGER SYNDROME to Axenfeld-Rieger syndrome, type 1, MIM# 180500",
"entity_name": "PITX2",
"entity_type": "gene"
},
{
"created": "2021-08-30T14:13:36.379184+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PITX2 as Green List (high evidence)",
"entity_name": "PITX2",
"entity_type": "gene"
},
{
"created": "2021-08-30T14:13:36.369710+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pitx2 has been classified as Green List (High Evidence).",
"entity_name": "PITX2",
"entity_type": "gene"
},
{
"created": "2021-08-30T14:13:26.792836+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PITX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Axenfeld-Rieger syndrome, type 1, MIM# 180500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PITX2",
"entity_type": "gene"
},
{
"created": "2021-08-30T13:22:15.292034+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8978",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SUCO as ready",
"entity_name": "SUCO",
"entity_type": "gene"
},
{
"created": "2021-08-30T13:22:15.272092+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8978",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: suco has been classified as Amber List (Moderate Evidence).",
"entity_name": "SUCO",
"entity_type": "gene"
},
{
"created": "2021-08-30T13:20:04.563693+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8978",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SUCO as Amber List (moderate evidence)",
"entity_name": "SUCO",
"entity_type": "gene"
},
{
"created": "2021-08-30T13:20:04.553456+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8978",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: suco has been classified as Amber List (Moderate Evidence).",
"entity_name": "SUCO",
"entity_type": "gene"
},
{
"created": "2021-08-30T13:19:39.804679+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8977",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SUCO was added\ngene: SUCO was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SUCO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SUCO were set to 29620724; 20440000\nPhenotypes for gene: SUCO were set to Osteogenesis imperfecta\nReview for gene: SUCO was set to AMBER\nAdded comment: A single case with diffuse osteopenia, multiple fractures with limb deformities, and short long bones, with biallelic variants (a missense and a splice site variant). Also, a null mouse model with acute onset skeletal defects that include impaired bone formation and spontaneous fractures. \nSources: Literature",
"entity_name": "SUCO",
"entity_type": "gene"
},
{
"created": "2021-08-30T13:16:28.151167+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.63",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SUCO as ready",
"entity_name": "SUCO",
"entity_type": "gene"
},
{
"created": "2021-08-30T13:16:28.132001+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.63",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: suco has been classified as Amber List (Moderate Evidence).",
"entity_name": "SUCO",
"entity_type": "gene"
},
{
"created": "2021-08-30T13:16:14.346838+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.63",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SUCO as Amber List (moderate evidence)",
"entity_name": "SUCO",
"entity_type": "gene"
},
{
"created": "2021-08-30T13:16:14.338363+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.63",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: suco has been classified as Amber List (Moderate Evidence).",
"entity_name": "SUCO",
"entity_type": "gene"
},
{
"created": "2021-08-30T13:12:47.281115+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.62",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SUCO was added\ngene: SUCO was added to Osteogenesis Imperfecta. Sources: Expert list\nMode of inheritance for gene: SUCO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SUCO were set to 29620724; 20440000\nPhenotypes for gene: SUCO were set to Osteogenesis imperfecta\nReview for gene: SUCO was set to AMBER\nAdded comment: A single case with diffuse osteopenia, multiple fractures with limb deformities, and short long bones, with biallelic variants (a missense and a splice site variant). Also, a null mouse model with acute onset skeletal defects that include impaired bone formation and spontaneous fractures. \nSources: Expert list",
"entity_name": "SUCO",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:58:46.394644+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.61",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ANO5 as Green List (high evidence)",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:58:46.384480+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.61",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ano5 has been classified as Green List (High Evidence).",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:57:15.182829+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.60",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ANO5 was added\ngene: ANO5 was added to Osteogenesis Imperfecta. Sources: Expert list\nMode of inheritance for gene: ANO5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANO5 were set to 30712070; 15124103; 30641283; 29175271\nPhenotypes for gene: ANO5 were set to Gnathodiaphyseal dysplasia MIM#166260\nReview for gene: ANO5 was set to GREEN\ngene: ANO5 was marked as current diagnostic\nAdded comment: Bone fragility is a feature of the condition, which is an overlapping feature with OI and could be a differential diagnosis. >3 families/probands and a null mouse model reported. \nSources: Expert list",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:42:48.602756+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.59",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: XYLT2 as ready",
"entity_name": "XYLT2",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:42:48.592325+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.59",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: xylt2 has been classified as Green List (High Evidence).",
"entity_name": "XYLT2",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:42:30.400894+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.113",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: XYLT2 as ready",
"entity_name": "XYLT2",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:42:30.388141+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.113",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: xylt2 has been classified as Green List (High Evidence).",
"entity_name": "XYLT2",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:42:03.823137+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.59",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: XYLT2 as Green List (high evidence)",
"entity_name": "XYLT2",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:42:03.814417+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.59",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: xylt2 has been classified as Green List (High Evidence).",
"entity_name": "XYLT2",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:41:31.989236+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.58",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: XYLT2 was added\ngene: XYLT2 was added to Osteogenesis Imperfecta. Sources: Expert list\nMode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: XYLT2 were set to 26027496; 26987875\nPhenotypes for gene: XYLT2 were set to Spondyloocular syndrome MIM#605822\nReview for gene: XYLT2 was set to GREEN\ngene: XYLT2 was marked as current diagnostic\nAdded comment: Generalised osteoporosis and recurrent fractures are a feature of the condition, which overlaps with the OI phenotype. >3 families reported. \nSources: Expert list",
"entity_name": "XYLT2",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:28:50.296753+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OTX2 as ready",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:28:50.288050+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otx2 has been classified as Green List (High Evidence).",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:28:48.090400+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OTX2 were changed from Microcephaly, bilateral anopthalmia, developmental delay, cleft palate to Pituitary hormone deficiency, combined, 6, MIM# 613986; Microphthalmia, syndromic 5, MIM# 610125",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:28:38.093685+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OTX2 were set to 18728160",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:28:28.367030+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OTX2 as Green List (high evidence)",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:28:28.357764+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otx2 has been classified as Green List (High Evidence).",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:28:19.050378+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OTX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18728160, 33950863, 15846561; Phenotypes: Pituitary hormone deficiency, combined, 6, MIM# 613986, Microphthalmia, syndromic 5, MIM# 610125; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:24:20.936218+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCM5 as ready",
"entity_name": "MCM5",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:24:20.926210+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcm5 has been classified as Red List (Low Evidence).",
"entity_name": "MCM5",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:24:18.695298+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCM5 were changed from ?Meier-Gorlin syndrome 8 to Meier-Gorlin syndrome 8 (MIM#617564)",
"entity_name": "MCM5",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:24:04.637846+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MCM5: Rating: RED; Mode of pathogenicity: None; Publications: 28198391; Phenotypes: Meier-Gorlin syndrome 8 (MIM#617564); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCM5",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:20:32.207167+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIG1 as ready",
"entity_name": "LIG1",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:20:32.192249+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lig1 has been classified as Green List (High Evidence).",
"entity_name": "LIG1",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:20:29.875801+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LIG1 were changed from immunodeficiency, sun sensitivity, growth reatrdation to Combined immunodeficiency; Lymphopaenia; Hypogammaglobulinaemia; Recurrent bacterial and viral infections; Growth retardation; Sun sensitivity, radiation sensitivity; Macrocytosis",
"entity_name": "LIG1",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:20:18.304136+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LIG1 were set to 1581963, 1351188",
"entity_name": "LIG1",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:19:53.648490+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LIG1 as Green List (high evidence)",
"entity_name": "LIG1",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:19:53.638064+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lig1 has been classified as Green List (High Evidence).",
"entity_name": "LIG1",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:19:44.034277+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LIG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30395541; Phenotypes: Combined immunodeficiency, Lymphopaenia, Hypogammaglobulinaemia, Recurrent bacterial and viral infections, Growth retardation, Sun sensitivity, radiation sensitivity, Macrocytosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIG1",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:18:03.899403+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.57",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: WNT4 was added\ngene: WNT4 was added to Osteogenesis Imperfecta. Sources: Expert list\nMode of inheritance for gene: WNT4 was set to Unknown\nPublications for gene: WNT4 were set to 25108526; 26733379\nPhenotypes for gene: WNT4 were set to Osteoporosis\nReview for gene: WNT4 was set to RED\nAdded comment: Mouse model where recombinant Wnt4 alleviated bone loss and inflammation by inhibiting NF-κB in vivo in mouse models of bone disease. However, no reported association with Mendelian disease. A common SNP (rs10917157) has been associated with bone mineral density. \nSources: Expert list",
"entity_name": "WNT4",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:11:41.368517+10:00",
"panel_name": "Osteoporosis",
"panel_id": 3696,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel deleted",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-08-30T12:10:05.254774+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LHX4 as ready",
"entity_name": "LHX4",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:10:05.244172+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lhx4 has been classified as Green List (High Evidence).",
"entity_name": "LHX4",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:10:02.889131+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LHX4 were changed from hypopituitarism to Pituitary hormone deficiency, combined, 4, MIM# 262700",
"entity_name": "LHX4",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:09:53.502706+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LHX4 were set to 11567216, 18073311",
"entity_name": "LHX4",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:09:42.211158+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LHX4 as Green List (high evidence)",
"entity_name": "LHX4",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:09:42.200719+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lhx4 has been classified as Green List (High Evidence).",
"entity_name": "LHX4",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:09:32.594383+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LHX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11567216, 17527005, 18073311; Phenotypes: Pituitary hormone deficiency, combined, 4, MIM# 262700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LHX4",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:05:43.078586+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LHX3 as ready",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2021-08-30T12:05:43.068456+10:00",
"panel_name": "Growth failure in early childhood",
"panel_id": 3631,
"panel_version": "0.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lhx3 has been classified as Green List (High Evidence).",
"entity_name": "LHX3",
"entity_type": "gene"
}
]
}