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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1181",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1179",
"results": [
{
"created": "2021-10-21T06:26:42.599666+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STX16: Rating: GREEN; Mode of pathogenicity: None; Publications: 1456170, 15579741, 15800843, 33320452, 32337648, 33247854, 29959430; Phenotypes: Pseudohypoparathyroidism type 1b MIM no: 603233; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
"entity_name": "STX16",
"entity_type": "gene"
},
{
"created": "2021-10-21T06:25:49.536022+11:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STX16 as ready",
"entity_name": "STX16",
"entity_type": "gene"
},
{
"created": "2021-10-21T06:25:49.518563+11:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stx16 has been classified as Green List (High Evidence).",
"entity_name": "STX16",
"entity_type": "gene"
},
{
"created": "2021-10-21T06:25:47.029480+11:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STX16 were changed from to Pseudohypoparathyroidism type 1b MIM#: 603233",
"entity_name": "STX16",
"entity_type": "gene"
},
{
"created": "2021-10-21T06:24:59.136338+11:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STX16 were set to ",
"entity_name": "STX16",
"entity_type": "gene"
},
{
"created": "2021-10-21T06:24:36.273345+11:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STX16 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
"entity_name": "STX16",
"entity_type": "gene"
},
{
"created": "2021-10-21T06:24:09.238417+11:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: STX16.",
"entity_name": "STX16",
"entity_type": "gene"
},
{
"created": "2021-10-21T06:24:00.487655+11:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: STX16: Multiple reports of a PHP-Ib phenotype.\r\n\r\nCaused in most cases by a maternally inherited 3-kb, 4.4-kb or larger deletion involving STX16, which is associated with loss of methylation (LOM) at GNAS exon A/B DMR (also referred to as exon 1A or GNAS A/B:TSS-DMR).\r\n\r\nOf PHP1B cases, 15–20% are familial, with an autosomal dominant mode of inheritance (AD-PHP1B) through the maternal lineage. In this familial form, the methylation defect is usually limited to loss of methylation at GNAS A/B:TSS-DMR, secondary to a 3 kb microdeletion on the maternal allele of cis-acting control elements within STX16. Other maternally inherited deletions and duplications have also been identified in some rare familial cases affecting either an isolated GNAS A/B:TSS-DMR or all four DMRs (Nature review, PMID 29959430)\r\n\r\nSTX16 is not clearly an imprinted gene, but only maternally inherited deletions are associated with this phenotype. Deletions in this gene are thought to disrupt cis-acting regulation of GNAS expression.",
"entity_name": "STX16",
"entity_type": "gene"
},
{
"created": "2021-10-21T06:23:46.058200+11:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STX16: Rating: GREEN; Mode of pathogenicity: None; Publications: 1456170, 15579741, 15800843, 33320452, 32337648, 33247854, 29959430; Phenotypes: Pseudohypoparathyroidism type 1b MIM#: 603233; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)",
"entity_name": "STX16",
"entity_type": "gene"
},
{
"created": "2021-10-21T06:20:05.706237+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STX16 as ready",
"entity_name": "STX16",
"entity_type": "gene"
},
{
"created": "2021-10-21T06:20:05.696923+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stx16 has been classified as Green List (High Evidence).",
"entity_name": "STX16",
"entity_type": "gene"
},
{
"created": "2021-10-21T06:20:00.876132+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STX16 as Green List (high evidence)",
"entity_name": "STX16",
"entity_type": "gene"
},
{
"created": "2021-10-21T06:20:00.861460+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stx16 has been classified as Green List (High Evidence).",
"entity_name": "STX16",
"entity_type": "gene"
},
{
"created": "2021-10-21T06:19:52.316560+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: STX16.",
"entity_name": "STX16",
"entity_type": "gene"
},
{
"created": "2021-10-20T20:11:51.092223+11:00",
"panel_name": "Imprinting disorders",
"panel_id": 3663,
"panel_version": "1.0",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "gene: STX16 was added\ngene: STX16 was added to Imprinting disorders. Sources: Literature\nMode of inheritance for gene: STX16 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)\nPublications for gene: STX16 were set to PMID: 1456170; 15579741; 15800843; 33320452; 32337648; 33247854; 29959430\nPhenotypes for gene: STX16 were set to Pseudohypoparathyroidism type 1b MIM no: 603233\nReview for gene: STX16 was set to GREEN\nAdded comment: Multiple reports of a PHP-Ib phenotype.\r\n\r\nCaused in most cases by a maternally inherited 3-kb, 4.4-kb or larger deletion involving STX16, which is associated with loss of methylation (LOM) at GNAS exon A/B DMR (also referred to as exon 1A or GNAS A/B:TSS-DMR).\r\n\r\nOf PHP1B cases, 15–20% are familial, with an autosomal dominant mode of inheritance (AD-PHP1B) through the maternal lineage. In this familial form, the methylation defect is usually limited to loss of methylation at GNAS A/B:TSS-DMR, secondary to a 3 kb microdeletion on the maternal allele of cis-acting control elements within STX16. Other maternally inherited deletions and duplications have also been identified in some rare familial cases affecting either an isolated GNAS A/B:TSS-DMR or all four DMRs (Nature review, PMID 29959430)\r\n\r\nSTX16 is not clearly an imprinted gene, but only maternally inherited deletions are associated with this phenotype. Deletions in this gene are thought to disrupt cis-acting regulation of GNAS expression. \nSources: Literature",
"entity_name": "STX16",
"entity_type": "gene"
},
{
"created": "2021-10-20T10:42:03.721698+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAOK1 were changed from Intellectual disability; hypotonia; macrocephaly to Developmental delay with or without intellectual impairment or behavioural abnormalities, MIM#619575; Intellectual disability; hypotonia; macrocephaly",
"entity_name": "TAOK1",
"entity_type": "gene"
},
{
"created": "2021-10-20T10:41:25.310788+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TAOK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay with or without intellectual impairment or behavioural abnormalities, MIM#619575; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TAOK1",
"entity_type": "gene"
},
{
"created": "2021-10-20T10:40:48.743620+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAOK1 were changed from TAOK1-related neurodevelopmental disorder to Developmental delay with or without intellectual impairment or behavioural abnormalities, MIM#619575; TAOK1-related neurodevelopmental disorder",
"entity_name": "TAOK1",
"entity_type": "gene"
},
{
"created": "2021-10-20T10:40:27.986629+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TAOK1: Changed phenotypes: Developmental delay with or without intellectual impairment or behavioural abnormalities, MIM#619575, TAOK1-related neurodevelopmental disorder",
"entity_name": "TAOK1",
"entity_type": "gene"
},
{
"created": "2021-10-20T10:40:01.674122+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAOK1 were changed from Intellectual disability; macrocephaly to Developmental delay with or without intellectual impairment or behavioural abnormalities, MIM#619575; Intellectual disability; macrocephaly",
"entity_name": "TAOK1",
"entity_type": "gene"
},
{
"created": "2021-10-20T10:39:25.189201+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TAOK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay with or without intellectual impairment or behavioural abnormalities, MIM#619575; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TAOK1",
"entity_type": "gene"
},
{
"created": "2021-10-19T21:21:37.169709+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STOX1 as ready",
"entity_name": "STOX1",
"entity_type": "gene"
},
{
"created": "2021-10-19T21:21:37.160300+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stox1 has been classified as Red List (Low Evidence).",
"entity_name": "STOX1",
"entity_type": "gene"
},
{
"created": "2021-10-19T21:21:24.224672+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STOX1 were changed from to Preeclampsia/eclampsia 4 (MIM#609404)",
"entity_name": "STOX1",
"entity_type": "gene"
},
{
"created": "2021-10-19T21:21:01.236341+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STOX1 were set to ",
"entity_name": "STOX1",
"entity_type": "gene"
},
{
"created": "2021-10-19T21:20:37.800098+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STOX1 as Red List (low evidence)",
"entity_name": "STOX1",
"entity_type": "gene"
},
{
"created": "2021-10-19T21:20:37.789371+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stox1 has been classified as Red List (Low Evidence).",
"entity_name": "STOX1",
"entity_type": "gene"
},
{
"created": "2021-10-19T21:18:24.099415+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRNA5 as ready",
"entity_name": "CHRNA5",
"entity_type": "gene"
},
{
"created": "2021-10-19T21:18:24.088710+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrna5 has been classified as Red List (Low Evidence).",
"entity_name": "CHRNA5",
"entity_type": "gene"
},
{
"created": "2021-10-19T21:18:16.278396+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRNA5 were changed from to Lung cancer susceptibility 2 (MIM#612052); Nicotine dependence, susceptibility to (MIM#612052)",
"entity_name": "CHRNA5",
"entity_type": "gene"
},
{
"created": "2021-10-19T21:17:53.929222+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHRNA5 as Red List (low evidence)",
"entity_name": "CHRNA5",
"entity_type": "gene"
},
{
"created": "2021-10-19T21:17:53.912371+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrna5 has been classified as Red List (Low Evidence).",
"entity_name": "CHRNA5",
"entity_type": "gene"
},
{
"created": "2021-10-19T21:17:24.083879+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIAA0556 as ready",
"entity_name": "KIAA0556",
"entity_type": "gene"
},
{
"created": "2021-10-19T21:17:24.072208+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa0556 has been classified as Green List (High Evidence).",
"entity_name": "KIAA0556",
"entity_type": "gene"
},
{
"created": "2021-10-19T21:17:18.582199+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIAA0556 as Green List (high evidence)",
"entity_name": "KIAA0556",
"entity_type": "gene"
},
{
"created": "2021-10-19T21:17:18.571784+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa0556 has been classified as Green List (High Evidence).",
"entity_name": "KIAA0556",
"entity_type": "gene"
},
{
"created": "2021-10-19T20:17:34.324119+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TBX4: Changed publications: 31761294, 31965066; Changed phenotypes: Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension MIM#147891, Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, MIM# 601360",
"entity_name": "TBX4",
"entity_type": "gene"
},
{
"created": "2021-10-19T17:45:58.165124+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNHIT3 as ready",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2021-10-19T17:45:58.153665+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znhit3 has been classified as Green List (High Evidence).",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2021-10-19T17:45:52.331271+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNHIT3 as Green List (high evidence)",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2021-10-19T17:45:52.322215+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znhit3 has been classified as Green List (High Evidence).",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2021-10-19T17:45:08.210742+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNHIT3 as ready",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2021-10-19T17:45:08.199601+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znhit3 has been classified as Green List (High Evidence).",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2021-10-19T17:45:01.255093+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNHIT3 was added\ngene: ZNHIT3 was added to Genetic Epilepsy. Sources: Expert Review\nfounder tags were added to gene: ZNHIT3.\nMode of inheritance for gene: ZNHIT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNHIT3 were set to 28335020; 28335020; 31048081\nPhenotypes for gene: ZNHIT3 were set to PEHO syndrome, MIM# 260565\nReview for gene: ZNHIT3 was set to GREEN\nAdded comment: PEHO is a severe autosomal recessive neurodevelopmental disorder characterized by extreme cerebellar atrophy due to almost total loss of granule neurons. Affected individuals present in early infancy with hypotonia, profoundly delayed psychomotor development, optic atrophy, progressive atrophy of the cerebellum and brainstem, and dysmyelination. Most patients also develop infantile seizures that are often associated with hypsarrhythmia on EEG, and many have peripheral oedema. More than 20 affected individuals reported of Finnish origin, p.Ser31Leu is a founder variant. One compound het reported and supportive animal model. \nSources: Expert Review",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2021-10-19T17:43:29.720503+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNHIT3 as Green List (high evidence)",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2021-10-19T17:43:29.710639+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znhit3 has been classified as Green List (High Evidence).",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2021-10-19T17:42:59.854884+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNHIT3 was added\ngene: ZNHIT3 was added to Optic Atrophy. Sources: Literature\nfounder tags were added to gene: ZNHIT3.\nMode of inheritance for gene: ZNHIT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNHIT3 were set to 28335020; 28335020; 31048081\nPhenotypes for gene: ZNHIT3 were set to PEHO syndrome, MIM# 260565\nReview for gene: ZNHIT3 was set to GREEN\nAdded comment: PEHO is a severe autosomal recessive neurodevelopmental disorder characterized by extreme cerebellar atrophy due to almost total loss of granule neurons. Affected individuals present in early infancy with hypotonia, profoundly delayed psychomotor development, optic atrophy, progressive atrophy of the cerebellum and brainstem, and dysmyelination. Most patients also develop infantile seizures that are often associated with hypsarrhythmia on EEG, and many have peripheral oedema. More than 20 affected individuals reported of Finnish origin, p.Ser31Leu is a founder variant. One compound het reported and supportive animal model. \nSources: Literature",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2021-10-19T17:40:34.291019+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNHIT3 as ready",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2021-10-19T17:40:34.278716+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znhit3 has been classified as Green List (High Evidence).",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2021-10-19T17:40:29.665413+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNHIT3 as Green List (high evidence)",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2021-10-19T17:40:29.656624+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znhit3 has been classified as Green List (High Evidence).",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2021-10-19T17:39:57.434000+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNHIT3 was added\ngene: ZNHIT3 was added to Microcephaly. Sources: Expert Review\nfounder tags were added to gene: ZNHIT3.\nMode of inheritance for gene: ZNHIT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNHIT3 were set to 28335020; 28335020; 31048081\nPhenotypes for gene: ZNHIT3 were set to PEHO syndrome, MIM# 260565\nReview for gene: ZNHIT3 was set to GREEN\nAdded comment: PEHO is a severe autosomal recessive neurodevelopmental disorder characterized by extreme cerebellar atrophy due to almost total loss of granule neurons. Affected individuals present in early infancy with hypotonia, profoundly delayed psychomotor development, optic atrophy, progressive atrophy of the cerebellum and brainstem, and dysmyelination. Most patients also develop infantile seizures that are often associated with hypsarrhythmia on EEG, and many have peripheral oedema. More than 20 affected individuals reported of Finnish origin, p.Ser31Leu is a founder variant. One compound het reported and supportive animal model. \nSources: Expert Review",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2021-10-19T17:39:44.920534+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: ZNHIT3.",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2021-10-19T17:39:40.085636+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNHIT3 as Green List (high evidence)",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2021-10-19T17:39:40.070760+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znhit3 has been classified as Green List (High Evidence).",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2021-10-19T17:39:13.955250+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNHIT3 as Green List (high evidence)",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2021-10-19T17:39:13.945341+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znhit3 has been classified as Green List (High Evidence).",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2021-10-19T17:39:13.518234+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNHIT3 as ready",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2021-10-19T17:39:13.507831+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znhit3 has been classified as Red List (Low Evidence).",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2021-10-19T17:38:25.358080+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNHIT3 was added\ngene: ZNHIT3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ZNHIT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNHIT3 were set to 28335020; 28335020; 31048081\nPhenotypes for gene: ZNHIT3 were set to PEHO syndrome, MIM# 260565\nReview for gene: ZNHIT3 was set to GREEN\nAdded comment: PEHO is a severe autosomal recessive neurodevelopmental disorder characterized by extreme cerebellar atrophy due to almost total loss of granule neurons. Affected individuals present in early infancy with hypotonia, profoundly delayed psychomotor development, optic atrophy, progressive atrophy of the cerebellum and brainstem, and dysmyelination. Most patients also develop infantile seizures that are often associated with hypsarrhythmia on EEG, and many have peripheral oedema. More than 20 affected individuals reported of Finnish origin, p.Ser31Leu is a founder variant. One compound het reported and supportive animal model. \nSources: Literature",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2021-10-19T17:37:35.133464+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNHIT3 as ready",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2021-10-19T17:37:35.108084+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znhit3 has been classified as Green List (High Evidence).",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2021-10-19T17:36:58.556822+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNHIT3 were changed from to PEHO syndrome, MIM# 260565",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2021-10-19T17:36:38.985294+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZNHIT3 were set to ",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2021-10-19T17:36:17.540459+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZNHIT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2021-10-19T17:35:48.672230+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: ZNHIT3.",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2021-10-19T17:35:37.622841+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZNHIT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28335020, 28335020, 31048081; Phenotypes: PEHO syndrome, MIM# 260565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZNHIT3",
"entity_type": "gene"
},
{
"created": "2021-10-19T11:52:25.618925+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HCFC1 was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2021-10-19T11:51:53.292629+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HCFC1: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2021-10-19T11:50:51.434749+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADGRG1 as ready",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2021-10-19T11:50:51.425659+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adgrg1 has been classified as Green List (High Evidence).",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2021-10-19T11:50:25.116570+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag 5'UTR tag was added to gene: ADGRG1.",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2021-10-19T11:50:11.092867+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 12 families reported in the original paper.; to: 12 families reported in the original paper.\r\n\r\nNote promoter deletion is common.",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2021-10-19T11:49:53.238807+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADGRG1 were changed from to Polymicrogyria, bilateral frontoparietal, MIM#606854",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2021-10-19T11:49:31.258806+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADGRG1 were set to ",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2021-10-19T11:49:11.140926+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 12 families reported in the original paper. ID and seizures are common features.; to: 12 families reported in the original paper. ID and seizures are common features.\r\n\r\nNote promoter deletion is common.",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2021-10-19T11:48:56.880597+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag 5'UTR tag was added to gene: ADGRG1.",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2021-10-19T11:48:55.379421+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADGRG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2021-10-19T11:48:35.853457+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag 5'UTR tag was added to gene: ADGRG1.",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2021-10-19T11:48:13.664791+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADGRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16240336, 33299078; Phenotypes: Polymicrogyria, bilateral frontoparietal, MIM#606854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2021-10-19T11:47:12.699903+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADGRG1 as ready",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2021-10-19T11:47:12.687551+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adgrg1 has been classified as Green List (High Evidence).",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2021-10-19T11:47:09.726197+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADGRG1 were changed from to Polymicrogyria, bilateral frontoparietal, MIM#606854",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2021-10-19T11:46:33.043710+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADGRG1 were set to ",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2021-10-19T11:46:02.906494+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADGRG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2021-10-19T11:45:25.890080+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADGRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16240336, 33299078; Phenotypes: Polymicrogyria, bilateral frontoparietal, MIM#606854; Mode of inheritance: None",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2021-10-19T10:45:50.691342+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4213",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: KIAA0556 was added\ngene: KIAA0556 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: KIAA0556 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIAA0556 were set to 26714646; 27245168\nPhenotypes for gene: KIAA0556 were set to Joubert syndrome 26, MIM# 616784\nReview for gene: KIAA0556 was set to GREEN\ngene: KIAA0556 was marked as current diagnostic\nAdded comment: 5 individuals from two families reported, supportive mouse model. Individuals were reported to have (global) developmental delay.\r\n\r\nNew HGNC approved name is KATNIP. \nSources: Literature",
"entity_name": "KIAA0556",
"entity_type": "gene"
},
{
"created": "2021-10-19T10:37:07.201550+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9406",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: CHRNA5: Rating: RED; Mode of pathogenicity: None; Publications: 20643934, 18385676; Phenotypes: Lung cancer susceptibility 2 (MIM#612052), Nicotine dependence, susceptibility to (MIM#612052); Mode of inheritance: Unknown; Current diagnostic: yes",
"entity_name": "CHRNA5",
"entity_type": "gene"
},
{
"created": "2021-10-19T10:27:48.040622+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9406",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: STOX1: Rating: RED; Mode of pathogenicity: None; Publications: 15806103, 17290274, 30548667, 33301424; Phenotypes: Preeclampsia/eclampsia 4 (MIM#609404); Mode of inheritance: Unknown; Current diagnostic: yes",
"entity_name": "STOX1",
"entity_type": "gene"
},
{
"created": "2021-10-18T20:41:26.059069+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATAD2B as ready",
"entity_name": "GATAD2B",
"entity_type": "gene"
},
{
"created": "2021-10-18T20:41:26.048150+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gatad2b has been classified as Amber List (Moderate Evidence).",
"entity_name": "GATAD2B",
"entity_type": "gene"
},
{
"created": "2021-10-18T20:41:19.444454+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GATAD2B as Amber List (moderate evidence)",
"entity_name": "GATAD2B",
"entity_type": "gene"
},
{
"created": "2021-10-18T20:41:19.430853+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gatad2b has been classified as Amber List (Moderate Evidence).",
"entity_name": "GATAD2B",
"entity_type": "gene"
},
{
"created": "2021-10-18T20:40:51.004911+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GATAD2B was added\ngene: GATAD2B was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: GATAD2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GATAD2B were set to 32688057\nPhenotypes for gene: GATAD2B were set to Mental retardation, autosomal dominant 18, OMIM # 615074\nReview for gene: GATAD2B was set to AMBER\nAdded comment: More than 70 patients reported: - loss-of-function and missense variants - clinical features of hypotonia, intellectual disability, strabismus, cardiac defects, characteristic facies, childhood apraxia of speech, and macrocephaly.\r\n\r\nSeizures are a rare feature. \nSources: Expert Review",
"entity_name": "GATAD2B",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:33:10.762420+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGF12 as ready",
"entity_name": "FGF12",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:33:10.751857+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgf12 has been classified as Green List (High Evidence).",
"entity_name": "FGF12",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:33:05.719530+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGF12 were changed from to Developmental and epileptic encephalopathy 47, MIM# 617166",
"entity_name": "FGF12",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:32:38.285044+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FGF12 were set to ",
"entity_name": "FGF12",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:32:04.684860+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGF12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGF12",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:31:36.088181+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FGF12: Rating: GREEN; Mode of pathogenicity: None; Publications: 32645220, 27164707, 27830185, 27872899; Phenotypes: Developmental and epileptic encephalopathy 47, MIM# 617166; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGF12",
"entity_type": "gene"
}
]
}