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{
"count": 220377,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1296",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1294",
"results": [
{
"created": "2021-06-15T16:56:39.659824+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sema3f has been classified as Green List (High Evidence).",
"entity_name": "SEMA3F",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:56:15.809950+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLXNA3 as ready",
"entity_name": "PLXNA3",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:56:15.797968+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plxna3 has been classified as Green List (High Evidence).",
"entity_name": "PLXNA3",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:56:06.724497+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLXNA3 as Green List (high evidence)",
"entity_name": "PLXNA3",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:56:06.715718+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plxna3 has been classified as Green List (High Evidence).",
"entity_name": "PLXNA3",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:55:41.188075+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8000",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLXNA3 was added\ngene: PLXNA3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PLXNA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PLXNA3 were set to 33495532\nPhenotypes for gene: PLXNA3 were set to Hypogonadotropic hypogonadism\nReview for gene: PLXNA3 was set to GREEN\nAdded comment: Screened 216 patients with Idiopathic hypogonadotropic hypogonadism by exome sequencing. Identified 7 individuals from 5 families with hemizygous PLXNA3 missense variants. In 2 of the kindreds, there was at least one more gene known to be associated with IHH (oligogenecity). Data provided with evidence that PLXNA3, a key component of the SEMA3F holoreceptor complex,31 is expressed by the human GnRH and olfactory/vomeronasal systems. S646P variant showed PLXNA3 localization exclusively in the ER, indicating that the variant S646P disrupts cell surface localization of PLXNA3. \nSources: Literature",
"entity_name": "PLXNA3",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:53:18.244831+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLXNA3 as ready",
"entity_name": "PLXNA3",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:53:18.234694+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plxna3 has been classified as Green List (High Evidence).",
"entity_name": "PLXNA3",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:49:49.826371+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DLG4 were changed from Intellectual disability; Marfanoid habitus to Intellectual developmental disorder 62, MIM# 618793",
"entity_name": "DLG4",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:49:29.070380+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DLG4 were set to 27479843; 25123844; 19617690; 29460436; 23020937; 28135719",
"entity_name": "DLG4",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:49:03.031979+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DLG4: Added comment: PMID 33597769: 53 patients (42 previously unpublished) with DLG4 variants. The clinical picture predominated by early onset global developmental delay, intellectual disability, autism spectrum disorder, and attention deficit–hyperactivity disorder.; Changed publications: 27479843, 25123844, 19617690, 29460436, 23020937, 28135719, 33597769; Changed phenotypes: Intellectual developmental disorder 62, MIM# 618793",
"entity_name": "DLG4",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:47:45.539568+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAI1 as ready",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:47:45.528956+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnai1 has been classified as Green List (High Evidence).",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:47:42.757703+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.68",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: NF2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29409008; Phenotypes: Neurofibromatosis, type 2, MIM#101000, Meningioma, NF2-related, somatic, MIM#607174, Schwannomatosis, somatic, MIM#162091; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "NF2",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:47:41.371345+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DLG4 were changed from Intellectual developmental disorder 62\t618793 to Intellectual developmental disorder 62, MIM#\t618793",
"entity_name": "DLG4",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:47:14.149939+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DLG4 were changed from Intellectual disability; Marfanoid habitus to Intellectual developmental disorder 62\t618793",
"entity_name": "DLG4",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:46:49.300101+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DLG4 were set to 27479843; 25123844; 19617690; 29460436; 23020937; 28135719",
"entity_name": "DLG4",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:45:38.959941+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAI1 as ready",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:45:38.948356+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnai1 has been classified as Green List (High Evidence).",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:45:28.354920+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNAI1 as Green List (high evidence)",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:45:28.345420+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnai1 has been classified as Green List (High Evidence).",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:44:54.978791+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNAI1 was added\ngene: GNAI1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: GNAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GNAI1 were set to 28135719; 33473207\nPhenotypes for gene: GNAI1 were set to Intellectual disability; seizures; hypotonia\nReview for gene: GNAI1 was set to GREEN\nAdded comment: Over 30 individuals reported, most had a severe neurodevelopmental disorder with global developmental delay, intellectual disability, hypotonia, and epilepsy. \nSources: Literature",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:44:29.094150+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNAI1 were changed from to Intellectual disability; seizures; hypotonia",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:43:29.504594+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNAI1 were set to ",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:39:25.859541+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNAI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:39:07.388804+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28135719, 33473207; Phenotypes: Intellectual disability, seizures, hypotonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:38:47.418143+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNAI1 were changed from Intellectual disability; seizures; hypotonia to Intellectual disability; seizures; hypotonia",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:38:10.091711+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNAI1 were changed from Intellectual disability to Intellectual disability; seizures; hypotonia",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:37:29.064257+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNAI1 were set to 28135719",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:35:45.686601+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FARSA as ready",
"entity_name": "FARSA",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:35:45.675507+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: farsa has been classified as Green List (High Evidence).",
"entity_name": "FARSA",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:35:24.793403+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FARSA were set to 31355908",
"entity_name": "FARSA",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:35:23.963724+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7994",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: SURF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24027061; Phenotypes: Charcot-Marie-Tooth disease, type 4K MIM#616684, Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:34:38.868212+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FARSA as Green List (high evidence)",
"entity_name": "FARSA",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:34:38.858754+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: farsa has been classified as Green List (High Evidence).",
"entity_name": "FARSA",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:33:59.425154+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FARSA: Added comment: Schuch et al. (2021) report 3 unrelated individuals with bi-allelic variants in FARSA. Identified through WES and variants segregated with disease. Functional evidence was obtained with reduced FARS1 enzyme activity levels in fibroblasts or EBV-transformed lymphoblastoid cell lines (EBV-LCLs) of patients. Common to all was a chronic interstitial lung disease starting early in life and characterized by bilateral ground-glass opacification on HR-CT, and cholesterol pneumonitis in lung histology. Additional abnormalities in other organ systems include liver disease, neurological manifestations, and growth restriction.; Changed rating: GREEN; Changed publications: 31355908, 33598926; Changed phenotypes: Rajab interstitial lung disease with brain calcifications 2, MIM# 619013",
"entity_name": "FARSA",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:32:57.780396+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FARSA were set to 31355908",
"entity_name": "FARSA",
"entity_type": "gene"
},
{
"created": "2021-06-15T16:31:18.894238+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LAMA5 were set to 29534211",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2021-06-15T14:13:31.514059+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.281",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: IFT74: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33531668; Phenotypes: Joubert syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-06-15T14:12:59.770366+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.5",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: IFT74 as Green List (high evidence)",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-06-15T14:12:59.760190+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.5",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ift74 has been classified as Green List (High Evidence).",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-06-15T14:12:25.870278+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.4",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: IFT74 was added\ngene: IFT74 was added to Joubert syndrome and other neurological ciliopathies. Sources: Literature\nMode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFT74 were set to PMID: 33531668\nPhenotypes for gene: IFT74 were set to Joubert syndrome\nReview for gene: IFT74 was set to GREEN\nAdded comment: Identified IFT74 as a JBTS-associated gene in 3 unrelated families through WES. All the affected individuals carried truncated variants and shared one missense variant (p.Q179E) found only in East Asians. The expression of the human p.Q179E-IFT74 variant displayed compromised rescue effects in zebrafish ift74 morphants. Attenuated ciliogenesis; altered distribution of IFT proteins and ciliary membrane proteins, including ARL13B, INPP5E, and GPR161; and disrupted hedgehog signaling were observed in patient fibroblasts with IFT74 variants. \nSources: Literature",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-06-15T14:10:46.175534+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3868",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RFX7 as Green List (high evidence)",
"entity_name": "RFX7",
"entity_type": "gene"
},
{
"created": "2021-06-15T14:10:46.165886+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3868",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rfx7 has been classified as Green List (High Evidence).",
"entity_name": "RFX7",
"entity_type": "gene"
},
{
"created": "2021-06-15T14:10:30.157894+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3868",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RFX7 as Green List (high evidence)",
"entity_name": "RFX7",
"entity_type": "gene"
},
{
"created": "2021-06-15T14:10:30.146631+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3868",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rfx7 has been classified as Green List (High Evidence).",
"entity_name": "RFX7",
"entity_type": "gene"
},
{
"created": "2021-06-15T14:10:10.653990+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3868",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RFX7 as Green List (high evidence)",
"entity_name": "RFX7",
"entity_type": "gene"
},
{
"created": "2021-06-15T14:10:10.643726+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3868",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rfx7 has been classified as Green List (High Evidence).",
"entity_name": "RFX7",
"entity_type": "gene"
},
{
"created": "2021-06-15T14:09:44.593425+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3867",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RFX7 as Green List (high evidence)",
"entity_name": "RFX7",
"entity_type": "gene"
},
{
"created": "2021-06-15T14:09:44.570320+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3867",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rfx7 has been classified as Green List (High Evidence).",
"entity_name": "RFX7",
"entity_type": "gene"
},
{
"created": "2021-06-15T14:09:19.237277+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3867",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RFX7 as Green List (high evidence)",
"entity_name": "RFX7",
"entity_type": "gene"
},
{
"created": "2021-06-15T14:09:19.217651+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3867",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rfx7 has been classified as Green List (High Evidence).",
"entity_name": "RFX7",
"entity_type": "gene"
},
{
"created": "2021-06-15T14:08:46.277622+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3867",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RFX7 as Green List (high evidence)",
"entity_name": "RFX7",
"entity_type": "gene"
},
{
"created": "2021-06-15T14:08:46.267229+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3867",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rfx7 has been classified as Green List (High Evidence).",
"entity_name": "RFX7",
"entity_type": "gene"
},
{
"created": "2021-06-15T14:08:30.440886+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3866",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RFX4 as Green List (high evidence)",
"entity_name": "RFX4",
"entity_type": "gene"
},
{
"created": "2021-06-15T14:08:30.413584+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3866",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rfx4 has been classified as Green List (High Evidence).",
"entity_name": "RFX4",
"entity_type": "gene"
},
{
"created": "2021-06-15T14:08:03.562132+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3866",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RFX4 as Green List (high evidence)",
"entity_name": "RFX4",
"entity_type": "gene"
},
{
"created": "2021-06-15T14:08:03.552236+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3866",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rfx4 has been classified as Green List (High Evidence).",
"entity_name": "RFX4",
"entity_type": "gene"
},
{
"created": "2021-06-15T14:07:35.162715+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3866",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RFX4 as Green List (high evidence)",
"entity_name": "RFX4",
"entity_type": "gene"
},
{
"created": "2021-06-15T14:07:35.152336+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3866",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rfx4 has been classified as Green List (High Evidence).",
"entity_name": "RFX4",
"entity_type": "gene"
},
{
"created": "2021-06-15T14:07:19.138333+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3866",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RFX4 as Green List (high evidence)",
"entity_name": "RFX4",
"entity_type": "gene"
},
{
"created": "2021-06-15T14:07:19.122243+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3866",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rfx4 has been classified as Green List (High Evidence).",
"entity_name": "RFX4",
"entity_type": "gene"
},
{
"created": "2021-06-15T14:07:04.784716+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3866",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RFX4 as Green List (high evidence)",
"entity_name": "RFX4",
"entity_type": "gene"
},
{
"created": "2021-06-15T14:07:04.774117+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3866",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rfx4 has been classified as Green List (High Evidence).",
"entity_name": "RFX4",
"entity_type": "gene"
},
{
"created": "2021-06-15T14:06:38.110112+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3865",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RFX3 as Green List (high evidence)",
"entity_name": "RFX3",
"entity_type": "gene"
},
{
"created": "2021-06-15T14:06:38.101315+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3865",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rfx3 has been classified as Green List (High Evidence).",
"entity_name": "RFX3",
"entity_type": "gene"
},
{
"created": "2021-06-15T14:05:37.914792+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3864",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: RFX4 was added\ngene: RFX4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RFX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RFX4 were set to PMID: 33658631\nPhenotypes for gene: RFX4 were set to ID, ASD, ADHD\nReview for gene: RFX4 was set to GREEN\nAdded comment: Report of 38 individuals (from 33 unrelated families) with de novo or inherited loss of function variants in RFX3 (15 families), RFX4 (4 families), and RFX7 (14 families), identified through WES. Individuals share neurobehavioural features including ASD, intellectual disability, and/or ADHD; other frequent features include hypersensitivity to sensory stimuli and sleep problems. RFX3, RFX4, and RFX7 are strongly expressed in developing and adult human brain, and X-box binding motifs as well as RFX ChIP-seq peaks are enriched in the cis-regulatory regions of known ASD risk genes. These genes are potentially critical transcriptional regulators of neurobiological pathways associated with neurodevelopmental disease pathogenesis. \nSources: Literature",
"entity_name": "RFX4",
"entity_type": "gene"
},
{
"created": "2021-06-15T14:05:18.317224+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3864",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: RFX3 was added\ngene: RFX3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RFX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RFX3 were set to PMID: 33658631\nPhenotypes for gene: RFX3 were set to ID, ASD, ADHD\nReview for gene: RFX3 was set to GREEN\nAdded comment: Report of 38 individuals (from 33 unrelated families) with de novo or inherited loss of function variants in RFX3 (15 families), RFX4 (4 families), and RFX7 (14 families), identified through WES. Individuals share neurobehavioural features including ASD, intellectual disability, and/or ADHD; other frequent features include hypersensitivity to sensory stimuli and sleep problems. RFX3, RFX4, and RFX7 are strongly expressed in developing and adult human brain, and X-box binding motifs as well as RFX ChIP-seq peaks are enriched in the cis-regulatory regions of known ASD risk genes. These genes are potentially critical transcriptional regulators of neurobiological pathways associated with neurodevelopmental disease pathogenesis. \nSources: Literature",
"entity_name": "RFX3",
"entity_type": "gene"
},
{
"created": "2021-06-15T14:05:03.861477+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3864",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: RFX7 was added\ngene: RFX7 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RFX7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RFX7 were set to PMID: 33658631\nPhenotypes for gene: RFX7 were set to ID, ASD, ADHD\nReview for gene: RFX7 was set to GREEN\nAdded comment: Report of 38 individuals (from 33 unrelated families) with de novo or inherited loss of function variants in RFX3 (15 families), RFX4 (4 families), and RFX7 (14 families), identified through WES. Individuals share neurobehavioural features including ASD, intellectual disability, and/or ADHD; other frequent features include hypersensitivity to sensory stimuli and sleep problems. RFX3, RFX4, and RFX7 are strongly expressed in developing and adult human brain, and X-box binding motifs as well as RFX ChIP-seq peaks are enriched in the cis-regulatory regions of known ASD risk genes. These genes are potentially critical transcriptional regulators of neurobiological pathways associated with neurodevelopmental disease pathogenesis. \nSources: Literature",
"entity_name": "RFX7",
"entity_type": "gene"
},
{
"created": "2021-06-15T13:54:34.885707+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.208",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PLXNA3 as Green List (high evidence)",
"entity_name": "PLXNA3",
"entity_type": "gene"
},
{
"created": "2021-06-15T13:54:34.875508+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.208",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: plxna3 has been classified as Green List (High Evidence).",
"entity_name": "PLXNA3",
"entity_type": "gene"
},
{
"created": "2021-06-15T13:54:13.043468+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.208",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SEMA3F as Green List (high evidence)",
"entity_name": "SEMA3F",
"entity_type": "gene"
},
{
"created": "2021-06-15T13:54:13.033795+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.208",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: sema3f has been classified as Green List (High Evidence).",
"entity_name": "SEMA3F",
"entity_type": "gene"
},
{
"created": "2021-06-15T13:53:16.432185+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.207",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SEMA3F was added\ngene: SEMA3F was added to Differences of Sex Development. Sources: Literature\nMode of inheritance for gene: SEMA3F was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SEMA3F were set to PMID: 33495532\nPhenotypes for gene: SEMA3F were set to Hypogonadotropic hypogonadism\nReview for gene: SEMA3F was set to GREEN\nAdded comment: Screened 216 patients with Idiopathic hypogonadotropic hypogonadism by exome sequencing. Identified 10 individuals from 7 families with heterozygous SEMA3F missense variants. In 4 of the kindreds, there was at least one more gene known to be associated with IHH (oligogenecity). Provide unequivocal human embryonic data showing the expression of SEMA3F along the developing human GnRH migratory pathway. SEMA3Fs harboring the P452T, T29M, and T724M missense variants showed impaired SEMA3F secretion in whole cell lysates. \nSources: Literature",
"entity_name": "SEMA3F",
"entity_type": "gene"
},
{
"created": "2021-06-15T13:52:57.006370+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.207",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PLXNA3 was added\ngene: PLXNA3 was added to Differences of Sex Development. Sources: Literature\nMode of inheritance for gene: PLXNA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PLXNA3 were set to PMID: 33495532\nPhenotypes for gene: PLXNA3 were set to Hypogonadotropic hypogonadism\nAdded comment: Screened 216 patients with Idiopathic hypogonadotropic hypogonadism by exome sequencing. Identified 7 individuals from 5 families with hemizygous PLXNA3 missense variants.\r\nIn 2 of the kindreds, there was at least one more gene known to be associated with IHH (oligogenecity). Data provided with evidence that PLXNA3, a key component of the SEMA3F holoreceptor complex,31 is expressed by the human GnRH and olfactory/vomeronasal systems. S646P variant showed PLXNA3 localization exclusively in the ER, indicating that the variant S646P disrupts cell surface localization of PLXNA3. \nSources: Literature",
"entity_name": "PLXNA3",
"entity_type": "gene"
},
{
"created": "2021-06-15T13:32:57.527410+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3863",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: DLG4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33597769; Phenotypes: Intellectual developmental disorder 62; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DLG4",
"entity_type": "gene"
},
{
"created": "2021-06-15T13:30:27.950484+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3863",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: GNAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33473207; Phenotypes: Developmental delay, seizures, and hypotonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2021-06-15T13:16:01.378747+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3863",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: FARSA as Green List (high evidence)",
"entity_name": "FARSA",
"entity_type": "gene"
},
{
"created": "2021-06-15T13:16:01.369283+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3863",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: farsa has been classified as Green List (High Evidence).",
"entity_name": "FARSA",
"entity_type": "gene"
},
{
"created": "2021-06-15T13:15:45.784124+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3863",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: FARSA as Green List (high evidence)",
"entity_name": "FARSA",
"entity_type": "gene"
},
{
"created": "2021-06-15T13:15:45.774235+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3863",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: farsa has been classified as Green List (High Evidence).",
"entity_name": "FARSA",
"entity_type": "gene"
},
{
"created": "2021-06-15T13:15:22.547788+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7993",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: LAMA5 were changed from to bent bone dysplasia; nephrotic syndrome; Presynaptic congenital myasthenic syndrome; multisystem syndrome; developmental delay",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2021-06-15T13:15:08.557871+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3862",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: FARSA was added\ngene: FARSA was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: FARSA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FARSA were set to PMID: 33598926\nPhenotypes for gene: FARSA were set to Rajab interstitial lung disease with brain calcifications 2\nReview for gene: FARSA was set to GREEN\ngene: FARSA was marked as current diagnostic\nAdded comment: FARSA is a subunit with FARSB to form FARS1 enzyme. Bi-allelic mutations in FARSB are well described.\r\nSchuch et al. (2021) report 3 unrelated individuals with bi-allelic variants in FARSA. Identified through WES and variants segregated with disease. Functional evidence was obtained with reduced FARS1 enzyme activity levels in fibroblasts or EBV-transformed lymphoblastoid cell lines (EBV-LCLs) of patients. Common to all was a chronic interstitial lung disease starting early in life and characterized by bilateral ground-glass opacification on HR-CT, and cholesterol pneumonitis in lung histology. Additional abnormalities in other organ systems include liver disease, neurological manifestations, and growth restriction. \nSources: Literature",
"entity_name": "FARSA",
"entity_type": "gene"
},
{
"created": "2021-06-15T13:13:30.934491+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.24",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: FARSA as Green List (high evidence)",
"entity_name": "FARSA",
"entity_type": "gene"
},
{
"created": "2021-06-15T13:13:30.924966+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.24",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: farsa has been classified as Green List (High Evidence).",
"entity_name": "FARSA",
"entity_type": "gene"
},
{
"created": "2021-06-15T13:13:06.693394+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.23",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: FARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33598926; Phenotypes: Rajab interstitial lung disease with brain calcifications 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FARSA",
"entity_type": "gene"
},
{
"created": "2021-06-15T13:12:18.220598+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.6",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: FARSA as Green List (high evidence)",
"entity_name": "FARSA",
"entity_type": "gene"
},
{
"created": "2021-06-15T13:12:18.209201+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.6",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: farsa has been classified as Green List (High Evidence).",
"entity_name": "FARSA",
"entity_type": "gene"
},
{
"created": "2021-06-15T13:12:15.024825+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7992",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: LAMA5 were set to ",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2021-06-15T13:11:48.596955+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.5",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: FARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33598926; Phenotypes: Rajab interstitial lung disease with brain calcifications 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FARSA",
"entity_type": "gene"
},
{
"created": "2021-06-15T13:09:19.160625+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7991",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAMA5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2021-06-15T13:08:50.060025+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7990",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: LAMA5: Rating: AMBER; Mode of pathogenicity: None; Publications: 33242826, 29534211, 16790509, 30589377, 28735299, 30631761; Phenotypes: bent bone dysplasia, nephrotic syndrome, Presynaptic congenital myasthenic syndrome, multisystem syndrome, developmental delay; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2021-06-15T13:07:34.629717+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.167",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: LAMA5: Changed publications: 29534211, 16790509, 29764427, 30808327, 24130771",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2021-06-15T13:07:03.262008+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.167",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Three consanguineous families with homozygous missense variants (VUS) identified in two affected siblings with paediatric nephrotic syndrome within each family. No functional studies conducted on the missense variants. A hypomorphic Lama5 homozygous mouse model demonstrated proteinuria, cystic kidney disease and death from progressive renal failure at 3–4 weeks of age.; to: PMID: 29534211 - Three consanguineous families with homozygous missense variants (VUS) identified in two affected siblings with paediatric nephrotic syndrome within each family. No functional studies conducted on the missense variants. \r\nPMID: 16790509 - A hypomorphic Lama5 homozygous mouse model demonstrated proteinuria, cystic kidney disease and death from progressive renal failure at 3–4 weeks of age.\r\nPMID: 24130771 - a single case focal segmental glomerulosclerosis (proteinuria) with biallelic missense variants (VUS - S1469A & V2440I). Also reports p.Gly3685Arg in 2 other cases, which has 11 homozygotes in gnomAD v2.1\r\nPMID: 29764427, 30808327 - Four families with haematuria and proteinuria reported with digenic inheritance of a LAMA5 missense variant with a COL4A4/5 variant. One of those variants (p.His1717Tyr) has 892 homozygotes in gnomAD v2.1",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2021-06-15T12:18:34.499090+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.167",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: LAMA5: Changed publications: 29534211, 16790509, 29764427, 30808327; Changed phenotypes: Nephrotic syndrome, Alport syndrome; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2021-06-15T11:50:12.823784+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.167",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: LAMA5: Rating: AMBER; Mode of pathogenicity: None; Publications: 29534211, 16790509; Phenotypes: Nephrotic syndrome; Mode of inheritance: None",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2021-06-15T11:27:30.177208+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.104",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: LAMA5 as ready",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2021-06-15T11:27:30.167178+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.104",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lama5 has been classified as Red List (Low Evidence).",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2021-06-15T11:18:06.998870+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.104",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LAMA5 was added\ngene: LAMA5 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: LAMA5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LAMA5 were set to 33242826\nPhenotypes for gene: LAMA5 were set to Bent bone dysplasia\nReview for gene: LAMA5 was set to RED\nAdded comment: A single family with 3 affected siblings with biallelic variants, and some supporting in vitro functional assays. \nSources: Literature",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2021-06-15T11:06:20.400627+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF81 as ready",
"entity_name": "ZNF81",
"entity_type": "gene"
}
]
}