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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=843",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=841",
"results": [
{
"created": "2022-05-13T10:38:32.106836+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RHEB were changed from Intellectual disability; Macrocephaly; Focal cortical dysplasia to Neurodevelopmental disorder MONDO:0700092, RHEB-related; Intellectual disability; Macrocephaly; Focal cortical dysplasia",
"entity_name": "RHEB",
"entity_type": "gene"
},
{
"created": "2022-05-13T10:37:53.096265+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RHEB: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, RHEB-related, Intellectual disability, Macrocephaly, Focal cortical dysplasia",
"entity_name": "RHEB",
"entity_type": "gene"
},
{
"created": "2022-05-13T10:37:31.880589+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RHEB as ready",
"entity_name": "RHEB",
"entity_type": "gene"
},
{
"created": "2022-05-13T10:37:31.865781+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rheb has been classified as Green List (High Evidence).",
"entity_name": "RHEB",
"entity_type": "gene"
},
{
"created": "2022-05-13T10:37:30.531592+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14209",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FSHR were changed from to Ovarian dysgenesis 1 MONDO:0024463; Ovarian hyperstimulation syndrome MONDO:0011972",
"entity_name": "FSHR",
"entity_type": "gene"
},
{
"created": "2022-05-13T10:37:17.328471+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RHEB were changed from to Neurodevelopmental disorder MONDO:0700092, RHEB-related; Intellectual disability; Macrocephaly; Focal cortical dysplasia",
"entity_name": "RHEB",
"entity_type": "gene"
},
{
"created": "2022-05-13T10:36:54.183224+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RHEB were set to ",
"entity_name": "RHEB",
"entity_type": "gene"
},
{
"created": "2022-05-13T10:36:31.470796+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RHEB was changed from Unknown to Other",
"entity_name": "RHEB",
"entity_type": "gene"
},
{
"created": "2022-05-13T10:36:10.969638+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RHEB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31337748, 29051493; Phenotypes: Neurodevelopmental disorder MONDO:0700092, RHEB-related, Intellectual disability, Macrocephaly, Focal cortical dysplasia; Mode of inheritance: Other",
"entity_name": "RHEB",
"entity_type": "gene"
},
{
"created": "2022-05-13T10:28:36.175103+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14205",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FSHR were set to ",
"entity_name": "FSHR",
"entity_type": "gene"
},
{
"created": "2022-05-13T10:23:22.845515+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCCC2 as ready",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2022-05-13T10:23:22.830247+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mccc2 has been classified as Red List (Low Evidence).",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2022-05-13T10:23:19.585693+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14204",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FSHR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FSHR",
"entity_type": "gene"
},
{
"created": "2022-05-13T10:23:16.385223+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MCCC2 as Red List (low evidence)",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2022-05-13T10:23:16.367334+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mccc2 has been classified as Red List (Low Evidence).",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2022-05-13T10:23:00.757591+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MCCC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2022-05-13T10:18:19.025883+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14203",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FSHR: Rating: GREEN; Mode of pathogenicity: None; Publications: 16630814, 7553856, 9020851, 9769327, 20087398, 9854118, 12930928, 12930927, 17721928, 26911863; Phenotypes: Ovarian dysgenesis 1 MONDO:0024463, Ovarian hyperstimulation syndrome MONDO:0011972; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FSHR",
"entity_type": "gene"
},
{
"created": "2022-05-13T09:59:39.418500+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RHCE as ready",
"entity_name": "RHCE",
"entity_type": "gene"
},
{
"created": "2022-05-13T09:59:39.372394+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rhce has been classified as Green List (High Evidence).",
"entity_name": "RHCE",
"entity_type": "gene"
},
{
"created": "2022-05-13T09:29:14.758362+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RHCE as ready",
"entity_name": "RHCE",
"entity_type": "gene"
},
{
"created": "2022-05-13T09:29:14.748358+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rhce has been classified as Green List (High Evidence).",
"entity_name": "RHCE",
"entity_type": "gene"
},
{
"created": "2022-05-13T09:29:10.185070+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RHCE as Green List (high evidence)",
"entity_name": "RHCE",
"entity_type": "gene"
},
{
"created": "2022-05-13T09:29:10.175477+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rhce has been classified as Green List (High Evidence).",
"entity_name": "RHCE",
"entity_type": "gene"
},
{
"created": "2022-05-13T09:28:58.173460+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RHCE was added\ngene: RHCE was added to Red cell disorders. Sources: Expert list\nMode of inheritance for gene: RHCE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RHCE were set to 9657766; 16271106; 25413218\nPhenotypes for gene: RHCE were set to Rh-null disease, amorph type, MIM# 617970\nReview for gene: RHCE was set to GREEN\nAdded comment: The RH-null phenotype designates rare individuals whose red blood cells lack all Rh antigens. Clinically, Rh-null patients present mild to moderate hemolytic anemia; cells exhibit characteristic morphologic and functional abnormalities including spherocytosis, stomatocytosis, and diminished lifespan. Multiple families reported. \nSources: Expert list",
"entity_name": "RHCE",
"entity_type": "gene"
},
{
"created": "2022-05-13T09:28:50.716289+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RHCE were changed from to Rh-null disease, amorph type, MIM# 617970",
"entity_name": "RHCE",
"entity_type": "gene"
},
{
"created": "2022-05-13T09:28:32.591046+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RHCE were set to ",
"entity_name": "RHCE",
"entity_type": "gene"
},
{
"created": "2022-05-13T09:28:13.148776+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RHCE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RHCE",
"entity_type": "gene"
},
{
"created": "2022-05-13T09:27:23.370819+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RHCE: Rating: GREEN; Mode of pathogenicity: None; Publications: 9657766, 16271106, 25413218; Phenotypes: Rh-null disease, amorph type, MIM# 617970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RHCE",
"entity_type": "gene"
},
{
"created": "2022-05-13T09:23:28.148724+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RGS9BP as ready",
"entity_name": "RGS9BP",
"entity_type": "gene"
},
{
"created": "2022-05-13T09:23:28.125923+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rgs9bp has been classified as Green List (High Evidence).",
"entity_name": "RGS9BP",
"entity_type": "gene"
},
{
"created": "2022-05-13T09:23:20.019288+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RGS9BP were changed from to Bradyopsia, MIM# 608415",
"entity_name": "RGS9BP",
"entity_type": "gene"
},
{
"created": "2022-05-13T09:22:56.233815+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RGS9BP were set to ",
"entity_name": "RGS9BP",
"entity_type": "gene"
},
{
"created": "2022-05-13T09:22:32.938557+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RGS9BP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RGS9BP",
"entity_type": "gene"
},
{
"created": "2022-05-13T09:22:07.027269+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RGS9BP: Rating: GREEN; Mode of pathogenicity: None; Publications: 14702087, 19818506; Phenotypes: Bradyopsia, MIM# 608415; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RGS9BP",
"entity_type": "gene"
},
{
"created": "2022-05-13T09:17:44.342385+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RGS9 as ready",
"entity_name": "RGS9",
"entity_type": "gene"
},
{
"created": "2022-05-13T09:17:44.333518+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rgs9 has been classified as Green List (High Evidence).",
"entity_name": "RGS9",
"entity_type": "gene"
},
{
"created": "2022-05-13T09:17:21.732110+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RGS9 were changed from to Bradyopsia, MIM# 608415",
"entity_name": "RGS9",
"entity_type": "gene"
},
{
"created": "2022-05-13T09:16:54.072543+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RGS9 were set to ",
"entity_name": "RGS9",
"entity_type": "gene"
},
{
"created": "2022-05-13T09:16:20.056119+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RGS9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RGS9",
"entity_type": "gene"
},
{
"created": "2022-05-13T09:15:57.735625+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RGS9: Rating: GREEN; Mode of pathogenicity: None; Publications: 14702087, 10676965, 19818506; Phenotypes: Bradyopsia, MIM# 608415; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RGS9",
"entity_type": "gene"
},
{
"created": "2022-05-13T09:12:15.613995+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RFX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitchell-Riley syndrome, MIM# 615710; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RFX6",
"entity_type": "gene"
},
{
"created": "2022-05-13T09:11:44.702989+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RFX6 as ready",
"entity_name": "RFX6",
"entity_type": "gene"
},
{
"created": "2022-05-13T09:11:44.693285+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rfx6 has been classified as Green List (High Evidence).",
"entity_name": "RFX6",
"entity_type": "gene"
},
{
"created": "2022-05-13T09:11:08.509440+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RFX6 were changed from to Mitchell-Riley syndrome, MIM#\t615710",
"entity_name": "RFX6",
"entity_type": "gene"
},
{
"created": "2022-05-13T09:10:10.241065+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RFX6 were set to ",
"entity_name": "RFX6",
"entity_type": "gene"
},
{
"created": "2022-05-13T09:07:42.892258+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEMA7A as ready",
"entity_name": "SEMA7A",
"entity_type": "gene"
},
{
"created": "2022-05-13T09:07:42.883619+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sema7a has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEMA7A",
"entity_type": "gene"
},
{
"created": "2022-05-13T09:07:37.274469+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEMA7A as Amber List (moderate evidence)",
"entity_name": "SEMA7A",
"entity_type": "gene"
},
{
"created": "2022-05-13T09:07:37.263955+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sema7a has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEMA7A",
"entity_type": "gene"
},
{
"created": "2022-05-13T09:07:00.483314+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEMA7A was added\ngene: SEMA7A was added to Cholestasis. Sources: Expert list\nMode of inheritance for gene: SEMA7A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SEMA7A were set to 34585848\nPhenotypes for gene: SEMA7A were set to Cholestasis, progressive familial intrahepatic, 11 , MIM# 619874\nReview for gene: SEMA7A was set to AMBER\nAdded comment: Pan et al 2021 (PMID:34585848) identified a homozygous missense variant (gnomad: 107 hets 0 homs) in a child with progressive familial intrahepatic cholestasis. Homozygous mice recapitulated the patient phenotype. \nSources: Expert list",
"entity_name": "SEMA7A",
"entity_type": "gene"
},
{
"created": "2022-05-13T09:04:53.985976+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEMA7A were changed from Decreased bone mineral density; Kallmann syndrome; progressive familial intrahepatic cholestasis to Decreased bone mineral density; Kallmann syndrome; Cholestasis, progressive familial intrahepatic, 11 , MIM# 619874",
"entity_name": "SEMA7A",
"entity_type": "gene"
},
{
"created": "2022-05-13T09:04:23.578870+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SEMA7A: Changed rating: AMBER; Changed phenotypes: Cholestasis, progressive familial intrahepatic, 11 , MIM# 619874; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SEMA7A",
"entity_type": "gene"
},
{
"created": "2022-05-13T08:54:44.699632+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14191",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FXYD6 as ready",
"entity_name": "FXYD6",
"entity_type": "gene"
},
{
"created": "2022-05-13T08:54:44.690855+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14191",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fxyd6 has been classified as Red List (Low Evidence).",
"entity_name": "FXYD6",
"entity_type": "gene"
},
{
"created": "2022-05-13T08:52:47.783072+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14191",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FXYD6 were changed from to Schizophrenia MONDO:0005090",
"entity_name": "FXYD6",
"entity_type": "gene"
},
{
"created": "2022-05-13T08:45:43.595423+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14190",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FXYD6 were set to ",
"entity_name": "FXYD6",
"entity_type": "gene"
},
{
"created": "2022-05-13T08:44:15.857735+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14189",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FXYD6 as Red List (low evidence)",
"entity_name": "FXYD6",
"entity_type": "gene"
},
{
"created": "2022-05-13T08:44:15.848525+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14189",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fxyd6 has been classified as Red List (Low Evidence).",
"entity_name": "FXYD6",
"entity_type": "gene"
},
{
"created": "2022-05-13T08:43:53.567946+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14188",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FXYD6: Rating: RED; Mode of pathogenicity: None; Publications: 17357072, 26193471, 29895895; Phenotypes: Schizophrenia MONDO:0005090; Mode of inheritance: None",
"entity_name": "FXYD6",
"entity_type": "gene"
},
{
"created": "2022-05-13T08:43:09.720106+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14188",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FZD2 as ready",
"entity_name": "FZD2",
"entity_type": "gene"
},
{
"created": "2022-05-13T08:43:09.709931+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14188",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fzd2 has been classified as Green List (High Evidence).",
"entity_name": "FZD2",
"entity_type": "gene"
},
{
"created": "2022-05-13T08:39:56.407763+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14188",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FZD2 were changed from to Autosomal dominant omodysplasia MONDO:0008123",
"entity_name": "FZD2",
"entity_type": "gene"
},
{
"created": "2022-05-13T08:04:18.379465+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14187",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FZD2 were set to ",
"entity_name": "FZD2",
"entity_type": "gene"
},
{
"created": "2022-05-13T06:55:31.910075+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBP2 as ready",
"entity_name": "FBP2",
"entity_type": "gene"
},
{
"created": "2022-05-13T06:55:31.898383+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FBP2",
"entity_type": "gene"
},
{
"created": "2022-05-13T06:55:22.766910+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBP2 as Amber List (moderate evidence)",
"entity_name": "FBP2",
"entity_type": "gene"
},
{
"created": "2022-05-13T06:55:22.753816+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FBP2",
"entity_type": "gene"
},
{
"created": "2022-05-13T06:54:45.412416+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FBP2 was added\ngene: FBP2 was added to Regression. Sources: Expert list\nMode of inheritance for gene: FBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FBP2 were set to 33977262\nPhenotypes for gene: FBP2 were set to Leukodystrophy, childhood-onset, remitting, MIM# 619864\nReview for gene: FBP2 was set to AMBER\nAdded comment: 8 individuals from 3 generations in a single family reported with a variant in this gene. The children presented with episode of regression and leukodystrophy in early childhood, from which they made a slow recovery. The adults had a broad range of neurobehavioural phenotypes but also had leukodystrophy on imaging. Some functional data presented (in vitro). \nSources: Expert list",
"entity_name": "FBP2",
"entity_type": "gene"
},
{
"created": "2022-05-13T06:53:08.474430+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBP2 as ready",
"entity_name": "FBP2",
"entity_type": "gene"
},
{
"created": "2022-05-13T06:53:08.461007+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FBP2",
"entity_type": "gene"
},
{
"created": "2022-05-13T06:52:57.988913+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBP2 as Amber List (moderate evidence)",
"entity_name": "FBP2",
"entity_type": "gene"
},
{
"created": "2022-05-13T06:52:57.973984+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FBP2",
"entity_type": "gene"
},
{
"created": "2022-05-13T06:52:36.954674+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FBP2 was added\ngene: FBP2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: FBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FBP2 were set to 33977262\nPhenotypes for gene: FBP2 were set to Leukodystrophy, childhood-onset, remitting, MIM# 619864\nReview for gene: FBP2 was set to AMBER\nAdded comment: 8 individuals from 3 generations in a single family reported with a variant in this gene. The children presented with episode of regression and leukodystrophy in early childhood, from which they made a slow recovery. The adults had a broad range of neurobehavioural phenotypes but also had leukodystrophy on imaging. Some functional data presented (in vitro). \nSources: Expert list",
"entity_name": "FBP2",
"entity_type": "gene"
},
{
"created": "2022-05-13T06:51:00.345532+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBP2 as ready",
"entity_name": "FBP2",
"entity_type": "gene"
},
{
"created": "2022-05-13T06:51:00.315552+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FBP2",
"entity_type": "gene"
},
{
"created": "2022-05-13T06:50:55.671600+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBP2 as Amber List (moderate evidence)",
"entity_name": "FBP2",
"entity_type": "gene"
},
{
"created": "2022-05-13T06:50:55.661922+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FBP2",
"entity_type": "gene"
},
{
"created": "2022-05-13T06:49:53.558025+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FBP2 was added\ngene: FBP2 was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: FBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FBP2 were set to 33977262\nPhenotypes for gene: FBP2 were set to Leukodystrophy, childhood-onset, remitting, MIM# \t619864\nReview for gene: FBP2 was set to AMBER\nAdded comment: 8 individuals from 3 generations in a single family reported with a variant in this gene. The children presented with episode of regression and leukodystrophy in early childhood, from which they made a slow recovery. The adults had a broad range of neurobehavioural phenotypes but also had leukodystrophy on imaging.\r\n\r\nSome functional data presented (in vitro). \nSources: Expert list",
"entity_name": "FBP2",
"entity_type": "gene"
},
{
"created": "2022-05-13T06:38:45.617537+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TLR7 were changed from Immunodeficiency 74, COVID19-related, X-linked, MIM# 301051 to Immunodeficiency 74, COVID19-related, X-linked, MIM# 301051; Systemic lupus erythematosus 17, MIM# 301080",
"entity_name": "TLR7",
"entity_type": "gene"
},
{
"created": "2022-05-13T06:38:19.998593+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TLR7 were set to 32706371",
"entity_name": "TLR7",
"entity_type": "gene"
},
{
"created": "2022-05-13T06:37:55.950988+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TLR7 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "TLR7",
"entity_type": "gene"
},
{
"created": "2022-05-13T06:37:33.968538+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Four affected individuals from two unrelated families and some functional data.; to: Immunodeficiency: Four affected individuals from two unrelated families and some functional data.",
"entity_name": "TLR7",
"entity_type": "gene"
},
{
"created": "2022-05-13T06:37:20.179389+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TLR7: Added comment: SLE\r\nXLD: only affected females reported; 4 individuals from three unrelated families. Mouse model.; Changed publications: 32706371, 35477763; Changed phenotypes: Immunodeficiency 74, COVID19-related, X-linked, MIM# 301051, Systemic lupus erythematosus 17, MIM# 301080; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "TLR7",
"entity_type": "gene"
},
{
"created": "2022-05-13T06:36:24.213203+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TLR7 as ready",
"entity_name": "TLR7",
"entity_type": "gene"
},
{
"created": "2022-05-13T06:36:24.201809+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tlr7 has been classified as Green List (High Evidence).",
"entity_name": "TLR7",
"entity_type": "gene"
},
{
"created": "2022-05-13T06:35:47.004225+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TLR7 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "TLR7",
"entity_type": "gene"
},
{
"created": "2022-05-13T06:35:16.200397+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TLR7 as Green List (high evidence)",
"entity_name": "TLR7",
"entity_type": "gene"
},
{
"created": "2022-05-13T06:35:16.191306+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tlr7 has been classified as Green List (High Evidence).",
"entity_name": "TLR7",
"entity_type": "gene"
},
{
"created": "2022-05-13T06:34:33.439218+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TLR7 was added\ngene: TLR7 was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: TLR7 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: TLR7 were set to 35477763\nPhenotypes for gene: TLR7 were set to Systemic lupus erythematosus 17, MIM#\t301080\nReview for gene: TLR7 was set to GREEN\nAdded comment: XLD: only affected females reported; 4 individuals from three unrelated families. Mouse model. \nSources: Expert list",
"entity_name": "TLR7",
"entity_type": "gene"
},
{
"created": "2022-05-13T06:30:38.948701+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MOV10L1 as ready",
"entity_name": "MOV10L1",
"entity_type": "gene"
},
{
"created": "2022-05-13T06:30:38.939042+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mov10l1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MOV10L1",
"entity_type": "gene"
},
{
"created": "2022-05-13T06:30:27.611103+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MOV10L1 as Amber List (moderate evidence)",
"entity_name": "MOV10L1",
"entity_type": "gene"
},
{
"created": "2022-05-13T06:30:27.600001+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mov10l1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MOV10L1",
"entity_type": "gene"
},
{
"created": "2022-05-13T06:30:07.379420+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MOV10L1 was added\ngene: MOV10L1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: MOV10L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MOV10L1 were set to 35476666; 20534472\nPhenotypes for gene: MOV10L1 were set to Spermatogenic failure 73, MIM#619878\nReview for gene: MOV10L1 was set to AMBER\nAdded comment: Two unrelated individuals and a mouse model. \nSources: Expert list",
"entity_name": "MOV10L1",
"entity_type": "gene"
},
{
"created": "2022-05-12T18:22:17.277567+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RFX6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RFX6",
"entity_type": "gene"
},
{
"created": "2022-05-12T18:04:53.637867+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RFC2 as ready",
"entity_name": "RFC2",
"entity_type": "gene"
},
{
"created": "2022-05-12T18:04:53.617091+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rfc2 has been classified as Red List (Low Evidence).",
"entity_name": "RFC2",
"entity_type": "gene"
},
{
"created": "2022-05-12T18:04:44.289100+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RFC2 as Red List (low evidence)",
"entity_name": "RFC2",
"entity_type": "gene"
},
{
"created": "2022-05-12T18:04:44.280199+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rfc2 has been classified as Red List (Low Evidence).",
"entity_name": "RFC2",
"entity_type": "gene"
},
{
"created": "2022-05-12T18:04:24.356131+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RFC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "RFC2",
"entity_type": "gene"
}
]
}