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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1323",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1321",
"results": [
{
"created": "2021-05-15T11:53:57.087643+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIAH1 were changed from Developmental delay; Infantile hypotonia; Dysmorphic features; Laryngomalacia to Buratti-Harel syndrome, MIM# 619314; Developmental delay; Infantile hypotonia; Dysmorphic features; Laryngomalacia",
"entity_name": "SIAH1",
"entity_type": "gene"
},
{
"created": "2021-05-15T11:53:29.959253+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SIAH1: Changed phenotypes: Buratti-Harel syndrome, MIM# 619314, Developmental delay, Infantile hypotonia, Dysmorphic features, Laryngomalacia",
"entity_name": "SIAH1",
"entity_type": "gene"
},
{
"created": "2021-05-15T11:53:06.763041+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIAH1 were changed from Developmental delay; Infantile hypotonia; Dysmorphic features; Laryngomalacia to Buratti-Harel syndrome, MIM# 619314; Developmental delay; Infantile hypotonia; Dysmorphic features; Laryngomalacia",
"entity_name": "SIAH1",
"entity_type": "gene"
},
{
"created": "2021-05-15T11:52:42.593945+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SIAH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Buratti-Harel syndrome, MIM# 619314; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIAH1",
"entity_type": "gene"
},
{
"created": "2021-05-15T11:52:01.578933+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCA5 as ready",
"entity_name": "SMARCA5",
"entity_type": "gene"
},
{
"created": "2021-05-15T11:52:01.568654+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarca5 has been classified as Green List (High Evidence).",
"entity_name": "SMARCA5",
"entity_type": "gene"
},
{
"created": "2021-05-15T11:51:52.927379+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMARCA5 as Green List (high evidence)",
"entity_name": "SMARCA5",
"entity_type": "gene"
},
{
"created": "2021-05-15T11:51:52.916908+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarca5 has been classified as Green List (High Evidence).",
"entity_name": "SMARCA5",
"entity_type": "gene"
},
{
"created": "2021-05-15T11:51:14.861260+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMARCA5 was added\ngene: SMARCA5 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: SMARCA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMARCA5 were set to 33980485\nPhenotypes for gene: SMARCA5 were set to Neurodevelopmental disorder; microcephaly; dysmorphic features\nReview for gene: SMARCA5 was set to GREEN\nAdded comment: 12 individuals reported with either de novo or appropriately segregating variants in this gene and mild developmental delay, frequent postnatal short stature and microcephaly, and recurrent dysmorphic features. Functional data supports gene-disease association. \nSources: Literature",
"entity_name": "SMARCA5",
"entity_type": "gene"
},
{
"created": "2021-05-15T11:50:48.329900+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCA5 as ready",
"entity_name": "SMARCA5",
"entity_type": "gene"
},
{
"created": "2021-05-15T11:50:48.318334+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarca5 has been classified as Green List (High Evidence).",
"entity_name": "SMARCA5",
"entity_type": "gene"
},
{
"created": "2021-05-15T11:50:25.172700+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMARCA5 as Green List (high evidence)",
"entity_name": "SMARCA5",
"entity_type": "gene"
},
{
"created": "2021-05-15T11:50:25.163662+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarca5 has been classified as Green List (High Evidence).",
"entity_name": "SMARCA5",
"entity_type": "gene"
},
{
"created": "2021-05-15T11:49:49.593010+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMARCA5 was added\ngene: SMARCA5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SMARCA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMARCA5 were set to 33980485\nPhenotypes for gene: SMARCA5 were set to Neurodevelopmental disorder; microcephaly; dysmorphic features\nReview for gene: SMARCA5 was set to GREEN\nAdded comment: 12 individuals reported with either de novo or appropriately segregating variants in this gene and mild developmental delay, frequent postnatal short stature and microcephaly, and recurrent dysmorphic features. Functional data supports gene-disease association. \nSources: Literature",
"entity_name": "SMARCA5",
"entity_type": "gene"
},
{
"created": "2021-05-15T11:48:29.907258+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBXW7 as ready",
"entity_name": "FBXW7",
"entity_type": "gene"
},
{
"created": "2021-05-15T11:48:29.897240+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxw7 has been classified as Green List (High Evidence).",
"entity_name": "FBXW7",
"entity_type": "gene"
},
{
"created": "2021-05-15T11:47:43.545170+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBXW7 as Green List (high evidence)",
"entity_name": "FBXW7",
"entity_type": "gene"
},
{
"created": "2021-05-15T11:47:43.532131+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxw7 has been classified as Green List (High Evidence).",
"entity_name": "FBXW7",
"entity_type": "gene"
},
{
"created": "2021-05-15T11:47:30.986379+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCA5 as ready",
"entity_name": "SMARCA5",
"entity_type": "gene"
},
{
"created": "2021-05-15T11:47:30.975382+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarca5 has been classified as Green List (High Evidence).",
"entity_name": "SMARCA5",
"entity_type": "gene"
},
{
"created": "2021-05-15T11:47:23.710167+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMARCA5 as Green List (high evidence)",
"entity_name": "SMARCA5",
"entity_type": "gene"
},
{
"created": "2021-05-15T11:47:23.695214+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarca5 has been classified as Green List (High Evidence).",
"entity_name": "SMARCA5",
"entity_type": "gene"
},
{
"created": "2021-05-15T11:46:49.763009+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMARCA5 was added\ngene: SMARCA5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SMARCA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMARCA5 were set to 33980485\nPhenotypes for gene: SMARCA5 were set to Neurodevelopmental disorder; microcephaly; dysmorphic features\nReview for gene: SMARCA5 was set to GREEN\nAdded comment: 12 individuals reported with either de novo or appropriately segregating variants in this gene and mild developmental delay, frequent postnatal short stature and microcephaly, and recurrent dysmorphic features. Functional data supports gene-disease association. \nSources: Literature",
"entity_name": "SMARCA5",
"entity_type": "gene"
},
{
"created": "2021-05-15T11:44:17.743219+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FBXW7 was added\ngene: FBXW7 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: FBXW7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FBXW7 were set to 33057194\nPhenotypes for gene: FBXW7 were set to FBXW7-related neurodevelopmental syndrome\nReview for gene: FBXW7 was set to GREEN\nAdded comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio developmental disorder study. 12 de novo missense and 1 de novo synonymous variant identified in ~10,000 cases with developmental disorders (no other phenotype info provided).\r\n\r\nWe are aware of additional cases pending publication. \nSources: Literature",
"entity_name": "FBXW7",
"entity_type": "gene"
},
{
"created": "2021-05-15T11:42:05.970622+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBXW7 were changed from Developmental disorder to FBXW7-related neurodevelopmental syndrome",
"entity_name": "FBXW7",
"entity_type": "gene"
},
{
"created": "2021-05-15T11:41:38.718471+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBXW7 as Green List (high evidence)",
"entity_name": "FBXW7",
"entity_type": "gene"
},
{
"created": "2021-05-15T11:41:38.702755+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxw7 has been classified as Green List (High Evidence).",
"entity_name": "FBXW7",
"entity_type": "gene"
},
{
"created": "2021-05-14T16:29:41.721293+10:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-05-14T16:27:27.427238+10:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PLEKHM1 as ready",
"entity_name": "PLEKHM1",
"entity_type": "gene"
},
{
"created": "2021-05-14T16:27:27.416336+10:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: plekhm1 has been classified as Green List (High Evidence).",
"entity_name": "PLEKHM1",
"entity_type": "gene"
},
{
"created": "2021-05-14T16:27:21.938869+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.76",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PLEKHM1 as Green List (high evidence)",
"entity_name": "PLEKHM1",
"entity_type": "gene"
},
{
"created": "2021-05-14T16:27:21.928587+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.76",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: plekhm1 has been classified as Green List (High Evidence).",
"entity_name": "PLEKHM1",
"entity_type": "gene"
},
{
"created": "2021-05-14T16:26:57.874278+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.75",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "PLEKHM1",
"entity_type": "gene"
},
{
"created": "2021-05-14T16:26:40.380415+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.75",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: PLEKHM1: Added comment: 2 unrelated cases with monoallelic variants and 2 unrelated cases with biallelic variants, with supporting animal models. The recessive form is the only form reported in the IUIS 2019 PID update.; Changed rating: GREEN; Changed publications: 17404618, 32048120, 17997709, 27291868, 27777970, 28290981; Changed phenotypes: Osteopetrosis, autosomal dominant 3 MIM#618107, Osteopetrosis, autosomal recessive 6 MIM#611497; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PLEKHM1",
"entity_type": "gene"
},
{
"created": "2021-05-14T16:23:44.391176+10:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: PLEKHM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17997709, 27291868, 17404618, 27777970, 28290981; Phenotypes: Osteopetrosis, autosomal dominant 3 MIM#618107; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PLEKHM1",
"entity_type": "gene"
},
{
"created": "2021-05-14T16:08:28.862779+10:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "PLEKHM1",
"entity_type": "gene"
},
{
"created": "2021-05-14T14:37:08.584399+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7618",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: FBXW7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33057194; Phenotypes: FBXW7-related neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "FBXW7",
"entity_type": "gene"
},
{
"created": "2021-05-14T08:37:57.393659+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Recurrent de novo variant in both individuals; to: Recurrent de novo variant in both individuals p.Ser479Phe.\r\n ",
"entity_name": "LEMD2",
"entity_type": "gene"
},
{
"created": "2021-05-14T08:37:26.118530+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LEMD2 were changed from progeroid disorder to Marbach-Rustad progeroid syndrome, OMIM# 619322; progeroid disorder",
"entity_name": "LEMD2",
"entity_type": "gene"
},
{
"created": "2021-05-14T08:37:05.247985+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LEMD2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Marbach-Rustad progeroid syndrome, OMIM# 619322; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LEMD2",
"entity_type": "gene"
},
{
"created": "2021-05-14T06:20:18.441821+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEPT9 as ready",
"entity_name": "SEPT9",
"entity_type": "gene"
},
{
"created": "2021-05-14T06:20:18.422669+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sept9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEPT9",
"entity_type": "gene"
},
{
"created": "2021-05-14T06:20:15.138308+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: SEPT9.\nTag 5'UTR tag was added to gene: SEPT9.\nTag founder tag was added to gene: SEPT9.\nTag new gene name tag was added to gene: SEPT9.",
"entity_name": "SEPT9",
"entity_type": "gene"
},
{
"created": "2021-05-14T06:19:50.498162+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEPT9 were changed from HNA; AMYOTROPHY, HEREDITARY NEURALGIC to HNA; Amyotrophy, hereditary neuralgic, MIM# 162100",
"entity_name": "SEPT9",
"entity_type": "gene"
},
{
"created": "2021-05-14T06:19:33.437310+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SEPT9 were set to ",
"entity_name": "SEPT9",
"entity_type": "gene"
},
{
"created": "2021-05-14T06:19:24.248097+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SEPT9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SEPT9",
"entity_type": "gene"
},
{
"created": "2021-05-14T06:19:11.269188+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEPT9 as Amber List (moderate evidence)",
"entity_name": "SEPT9",
"entity_type": "gene"
},
{
"created": "2021-05-14T06:19:11.254993+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sept9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEPT9",
"entity_type": "gene"
},
{
"created": "2021-05-14T06:19:01.958807+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SEPT9: Rating: AMBER; Mode of pathogenicity: None; Publications: 16186812, 19451530, 19939853, 19139049, 18492087; Phenotypes: Amyotrophy, hereditary neuralgic, MIM# 162100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SEPT9",
"entity_type": "gene"
},
{
"created": "2021-05-14T06:13:37.345504+10:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEPT9 as ready",
"entity_name": "SEPT9",
"entity_type": "gene"
},
{
"created": "2021-05-14T06:13:37.335123+10:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sept9 has been classified as Green List (High Evidence).",
"entity_name": "SEPT9",
"entity_type": "gene"
},
{
"created": "2021-05-14T06:13:32.540858+10:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SEPT9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SEPT9",
"entity_type": "gene"
},
{
"created": "2021-05-14T06:13:22.919563+10:00",
"panel_name": "Pain syndromes",
"panel_id": 3126,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SEPT9: Rating: GREEN; Mode of pathogenicity: None; Publications: 16186812, 19451530, 19939853, 19139049; Phenotypes: Amyotrophy, hereditary neuralgic, MIM# 162100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SEPT9",
"entity_type": "gene"
},
{
"created": "2021-05-14T06:12:04.774815+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SEPT9 were set to ",
"entity_name": "SEPT9",
"entity_type": "gene"
},
{
"created": "2021-05-14T06:11:43.399926+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SEPT9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SEPT9",
"entity_type": "gene"
},
{
"created": "2021-05-14T06:11:25.103097+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: SEPT9.\nTag 5'UTR tag was added to gene: SEPT9.\nTag founder tag was added to gene: SEPT9.\nTag new gene name tag was added to gene: SEPT9.",
"entity_name": "SEPT9",
"entity_type": "gene"
},
{
"created": "2021-05-14T06:11:05.526575+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SEPT9: Added comment: Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm. Multiple founder variants, including p.Arg88Trp. Also note intragenic duplication and 5'UTR variant reported, which may not be detectable by all NGS assays.; Changed publications: 16186812, 19451530, 19939853, 19139049",
"entity_name": "SEPT9",
"entity_type": "gene"
},
{
"created": "2021-05-13T20:41:07.049364+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC5A7 as ready",
"entity_name": "SLC5A7",
"entity_type": "gene"
},
{
"created": "2021-05-13T20:41:07.039666+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc5a7 has been classified as Green List (High Evidence).",
"entity_name": "SLC5A7",
"entity_type": "gene"
},
{
"created": "2021-05-13T20:41:03.223198+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC5A7 were changed from to Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143",
"entity_name": "SLC5A7",
"entity_type": "gene"
},
{
"created": "2021-05-13T20:40:34.815071+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC5A7 were set to ",
"entity_name": "SLC5A7",
"entity_type": "gene"
},
{
"created": "2021-05-13T20:40:02.553442+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC5A7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC5A7",
"entity_type": "gene"
},
{
"created": "2021-05-13T20:39:30.642892+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC5A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 27569547, 29189923, 30172469; Phenotypes: Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC5A7",
"entity_type": "gene"
},
{
"created": "2021-05-13T20:25:26.398602+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC5A7 as ready",
"entity_name": "SLC5A7",
"entity_type": "gene"
},
{
"created": "2021-05-13T20:25:26.387623+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc5a7 has been classified as Green List (High Evidence).",
"entity_name": "SLC5A7",
"entity_type": "gene"
},
{
"created": "2021-05-13T20:25:16.700234+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC5A7 were changed from to Neuronopathy, distal hereditary motor, type VIIA, MIM# 158580; MONDO:0008024; Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143",
"entity_name": "SLC5A7",
"entity_type": "gene"
},
{
"created": "2021-05-13T20:24:41.115840+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC5A7 were set to ",
"entity_name": "SLC5A7",
"entity_type": "gene"
},
{
"created": "2021-05-13T20:24:20.515333+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC5A7 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC5A7",
"entity_type": "gene"
},
{
"created": "2021-05-13T20:23:52.134647+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC5A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 23141292, 15173594, 29782645, 29582019, 27569547, 29189923, 30172469; Phenotypes: Neuronopathy, distal hereditary motor, type VIIA, MIM# 158580, MONDO:0008024, Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC5A7",
"entity_type": "gene"
},
{
"created": "2021-05-13T20:14:27.251159+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASXL1 as ready",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2021-05-13T20:14:27.238652+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asxl1 has been classified as Green List (High Evidence).",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2021-05-13T20:14:22.565751+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ASXL1 as Green List (high evidence)",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2021-05-13T20:14:22.555514+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asxl1 has been classified as Green List (High Evidence).",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2021-05-13T20:13:57.480358+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASXL1 was added\ngene: ASXL1 was added to Cancer Predisposition_Paediatric. Sources: Expert Review\nMode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ASXL1 were set to 29446906\nPhenotypes for gene: ASXL1 were set to Bohring-Opitz syndrome , MIM#605039; Wilms tumour\nReview for gene: ASXL1 was set to GREEN\nAdded comment: Case reports suggest that individuals with BOS are at greater risk for Wilms tumour than the general population. \r\nRecommended surveillance: Renal ultrasound every three months from birth to age eight to screen for the development of Wilms tumour. \nSources: Expert Review",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2021-05-13T14:27:42.085082+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZMIZ1 as ready",
"entity_name": "ZMIZ1",
"entity_type": "gene"
},
{
"created": "2021-05-13T14:27:42.074240+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zmiz1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZMIZ1",
"entity_type": "gene"
},
{
"created": "2021-05-13T14:27:35.443876+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZMIZ1 as Amber List (moderate evidence)",
"entity_name": "ZMIZ1",
"entity_type": "gene"
},
{
"created": "2021-05-13T14:27:35.434433+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zmiz1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZMIZ1",
"entity_type": "gene"
},
{
"created": "2021-05-13T12:42:53.452352+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.71",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "gene: ZMIZ1 was added\ngene: ZMIZ1 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: ZMIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZMIZ1 were set to 30639322\nPhenotypes for gene: ZMIZ1 were set to Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (MIM#618659)\nReview for gene: ZMIZ1 was set to GREEN\nAdded comment: Out of 19 individuals reported with a neurodevelopmental phenotype (16 unrelated), 4 presented hearing loss. One of these individuals (#13) also had 2 affected siblings that did not present hearing loss (#14 and #15) (PMID: 30639322). \nSources: Literature",
"entity_name": "ZMIZ1",
"entity_type": "gene"
},
{
"created": "2021-05-13T09:53:04.944867+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association. Deletions common.; to: Well established gene-disease association. Deletions common. High sequence homology between SMN1 and SMN2 can make NGS data difficult to interpret.",
"entity_name": "SMN1",
"entity_type": "gene"
},
{
"created": "2021-05-13T09:48:52.141706+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPG11 as ready",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2021-05-13T09:48:52.132378+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spg11 has been classified as Green List (High Evidence).",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2021-05-13T09:48:48.849943+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPG11 were changed from to Spastic paraplegia 11, autosomal recessive 604360",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2021-05-13T09:48:17.886580+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPG11 were set to ",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2021-05-13T09:47:51.158658+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPG11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2021-05-13T09:47:17.671634+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: None; Publications: 33581793; Phenotypes: Spastic paraplegia 11, autosomal recessive 604360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2021-05-13T09:37:48.161095+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPTAN1 as ready",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2021-05-13T09:37:48.150179+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptan1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2021-05-13T09:37:45.469007+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPTAN1 were changed from to Developmental and epileptic encephalopathy 5, MIM# 613477",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2021-05-13T09:37:20.230543+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPTAN1 were set to ",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2021-05-13T09:36:24.850642+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPTAN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2021-05-13T09:35:59.351000+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPTAN1 as Amber List (moderate evidence)",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2021-05-13T09:35:59.340516+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptan1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2021-05-13T09:35:28.046372+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPTAN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20493457, 22258530, 32811770; Phenotypes: Developmental and epileptic encephalopathy 5, MIM# 613477; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2021-05-13T09:34:13.013185+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPTAN1 as ready",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2021-05-13T09:34:13.000212+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptan1 has been classified as Green List (High Evidence).",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2021-05-13T09:34:09.004855+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPTAN1 were changed from to Developmental and epileptic encephalopathy 5, MIM# 613477",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2021-05-13T09:33:34.742000+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPTAN1 were set to ",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2021-05-13T09:33:08.369289+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPTAN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2021-05-13T09:32:41.503262+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20493457, 22258530, 32811770; Phenotypes: Developmental and epileptic encephalopathy 5, MIM# 613477; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPTAN1",
"entity_type": "gene"
}
]
}