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{
"count": 221385,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1757",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1755",
"results": [
{
"created": "2020-06-26T16:59:11.723243+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FGF17 as Amber List (moderate evidence)",
"entity_name": "FGF17",
"entity_type": "gene"
},
{
"created": "2020-06-26T16:59:11.710444+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fgf17 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FGF17",
"entity_type": "gene"
},
{
"created": "2020-06-26T16:59:02.386136+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FGF17: Rating: AMBER; Mode of pathogenicity: None; Publications: 17442747, 23643382; Phenotypes: Hypogonadotropic hypogonadism 20 with or without anosmia MIM#615270; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGF17",
"entity_type": "gene"
},
{
"created": "2020-06-26T16:21:29.909907+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3166",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ESR2 as Amber List (moderate evidence)",
"entity_name": "ESR2",
"entity_type": "gene"
},
{
"created": "2020-06-26T16:21:29.898002+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3166",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: esr2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ESR2",
"entity_type": "gene"
},
{
"created": "2020-06-26T16:21:07.367539+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3165",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ESR2 was added\ngene: ESR2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: ESR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ESR2",
"entity_type": "gene"
},
{
"created": "2020-06-26T16:18:40.244830+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ESR2 was added\ngene: ESR2 was added to Disorders of Sex Differentiation. Sources: Literature\nMode of inheritance for gene: ESR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ESR2 were set to 29261182; 9861029\nPhenotypes for gene: ESR2 were set to 46,XY Disorders of Sex Development\nReview for gene: ESR2 was set to AMBER\nAdded comment: A homozygous indel (Asn181del) was identified in a syndromic case with 46,XY DSD, and 2 heterozygous missense variants were identified in 2 non-syndromic cases with 46,XY DSD. Asn181del and Leu426Arg were found to have significantly increased transcriptional activation in in vitro luciferase assays. Esrb null male mice showed no overt abnormalities and reproduced normally. Older mutant males displayed signs of prostate and bladder hyperplasia. \nSources: Literature",
"entity_name": "ESR2",
"entity_type": "gene"
},
{
"created": "2020-06-26T16:07:52.499147+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3164",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ZBTB18: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID 27598823, 29573576; Phenotypes: Mental retardation, autosomal dominant 22 612337; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ZBTB18",
"entity_type": "gene"
},
{
"created": "2020-06-26T15:41:27.699458+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ESR2 as ready",
"entity_name": "ESR2",
"entity_type": "gene"
},
{
"created": "2020-06-26T15:41:27.686927+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: esr2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ESR2",
"entity_type": "gene"
},
{
"created": "2020-06-26T15:41:12.979361+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ESR2 as Amber List (moderate evidence)",
"entity_name": "ESR2",
"entity_type": "gene"
},
{
"created": "2020-06-26T15:41:12.959397+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: esr2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ESR2",
"entity_type": "gene"
},
{
"created": "2020-06-26T15:23:20.001426+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ESR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30113650, 9861029; Phenotypes: Ovarian dysgenesis 8 MIM#618187; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ESR2",
"entity_type": "gene"
},
{
"created": "2020-06-26T14:52:23.514620+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ERCC6 as ready",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2020-06-26T14:52:23.503448+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ercc6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2020-06-26T14:52:19.525068+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ERCC6 as Amber List (moderate evidence)",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2020-06-26T14:52:19.519081+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Strong segregation in one family and supporting functional assays. POI has not been mentioned in carriers for Cockayne syndrome. More evidence is required to determine whether dominant POI associated variants in this gene are specific to the exon expressed in the alternate transcript.",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2020-06-26T14:52:19.488471+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ercc6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2020-06-26T14:49:17.134150+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2020-06-26T14:48:49.716684+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ERCC6 as Amber List (moderate evidence)",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2020-06-26T14:48:49.710517+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Strong segregation in one family and supporting functional assays.",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2020-06-26T14:48:49.678275+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ercc6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2020-06-26T14:46:28.372237+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ERCC6: Rating: AMBER; Mode of pathogenicity: None; Publications: 26218421; Phenotypes: Premature ovarian failure 11 MIM#616946; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2020-06-26T13:05:34.412704+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DUSP6 as ready",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2020-06-26T13:05:34.403621+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dusp6 has been classified as Red List (Low Evidence).",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2020-06-26T13:05:30.605926+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DUSP6 as Red List (low evidence)",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2020-06-26T13:05:30.593281+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dusp6 has been classified as Red List (Low Evidence).",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2020-06-26T13:04:54.695913+10:00",
"panel_name": "Amenorrhoea",
"panel_id": 3166,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: DUSP6: Rating: RED; Mode of pathogenicity: None; Publications: 23643382, 32389901; Phenotypes: Hypogonadotropic hypogonadism 19 with or without anosmia MIM#615269; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2020-06-26T11:06:40.520814+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3164",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MT-TP as ready",
"entity_name": "MT-TP",
"entity_type": "gene"
},
{
"created": "2020-06-26T11:06:40.512223+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3164",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mt-tp has been classified as Red List (Low Evidence).",
"entity_name": "MT-TP",
"entity_type": "gene"
},
{
"created": "2020-06-26T11:06:25.129115+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3164",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MT-TP as Red List (low evidence)",
"entity_name": "MT-TP",
"entity_type": "gene"
},
{
"created": "2020-06-26T11:06:25.124891+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3164",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: This is a mitochondrial gene, which is on the Mitochondrial disease gene panel.",
"entity_name": "MT-TP",
"entity_type": "gene"
},
{
"created": "2020-06-26T11:06:25.088284+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3164",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mt-tp has been classified as Red List (Low Evidence).",
"entity_name": "MT-TP",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:50:36.494253+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABL1 as ready",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:50:36.484075+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abl1 has been classified as Green List (High Evidence).",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:50:30.459747+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ABL1 as Green List (high evidence)",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:50:30.446946+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abl1 has been classified as Green List (High Evidence).",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:48:34.092098+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SETD2 as ready",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:48:34.080405+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: setd2 has been classified as Green List (High Evidence).",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:48:31.133273+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETD2 were changed from to Luscan-Lumish syndrome, MIM#616831",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:48:03.388108+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SETD2 were set to ",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:47:35.705722+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SETD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:47:02.450513+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SETD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29681085; Phenotypes: Luscan-Lumish syndrome, MIM#616831; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:46:17.806439+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SETD2 as ready",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:46:17.796709+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: setd2 has been classified as Green List (High Evidence).",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:46:14.468214+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETD2 were changed from to Luscan-Lumish syndrome, MIM#616831",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:45:45.597507+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SETD2 were set to ",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:45:11.545366+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SETD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:44:40.576855+10:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SETD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29681085; Phenotypes: Luscan-Lumish syndrome, MIM#616831; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:43:56.792405+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETD2 were changed from Luscan-Lumish syndrome 616831; Luscan-Lumish syndrome\t616831 to Luscan-Lumish syndrome 616831",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:43:08.474395+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2715",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SETD2 as ready",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:43:08.460821+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2715",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: setd2 has been classified as Green List (High Evidence).",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:43:04.458662+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2715",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETD2 were changed from to Luscan-Lumish syndrome, MIM#616831",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:42:25.878106+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2714",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SETD2 were set to ",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:41:42.862563+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2713",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SETD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:41:07.994869+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SETD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29681085; Phenotypes: Luscan-Lumish syndrome, MIM#616831; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:39:57.308128+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SETD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29681085; Phenotypes: Luscan-Lumish syndrome, MIM#616831; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:39:06.170978+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SETD2 as ready",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:39:06.157976+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: setd2 has been classified as Green List (High Evidence).",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:37:09.208050+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETD2 were changed from to Luscan-Lumish syndrome, MIM#616831",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:36:43.306086+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SETD2 were set to ",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:36:24.376577+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SETD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:34:41.364594+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HMBS as ready",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:34:41.349149+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmbs has been classified as Green List (High Evidence).",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:34:16.620168+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Porphyria, acute intermittent, MIM# 176000, Porphyria, acute intermittent, nonerythroid variant, MIM# 176000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HMBS",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:33:21.928968+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CPOX as ready",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:33:21.917023+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpox has been classified as Green List (High Evidence).",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:33:10.841454+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coproporphyria, MIM# 121300, Harderoporphyria, MIM# 618892; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CPOX",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:30:33.945432+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATA1 as ready",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:30:33.933891+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:29:59.995833+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UROS as ready",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:29:59.986418+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uros has been classified as Green List (High Evidence).",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:29:55.271117+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UROS were set to ",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:29:30.380512+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UROD as ready",
"entity_name": "UROD",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:29:30.371136+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: urod has been classified as Green List (High Evidence).",
"entity_name": "UROD",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:29:15.412551+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UROD were set to ",
"entity_name": "UROD",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:29:04.634441+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UROD was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UROD",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:28:24.156518+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPOX as ready",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:28:24.146700+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppox has been classified as Green List (High Evidence).",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:28:21.911170+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPOX were changed from Porphyria variegata 176200 to Porphyria variegata, MIM# 176200",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:26:55.902604+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPOX were set to ",
"entity_name": "PPOX",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:26:17.299521+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FECH as ready",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:26:17.290435+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fech has been classified as Green List (High Evidence).",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:26:12.164418+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FECH were set to ",
"entity_name": "FECH",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:25:42.307080+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALAS2 as ready",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:25:42.294566+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alas2 has been classified as Green List (High Evidence).",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:25:37.653371+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALAS2 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": "ALAS2",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:25:01.802879+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALAD as ready",
"entity_name": "ALAD",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:25:01.763565+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alad has been classified as Green List (High Evidence).",
"entity_name": "ALAD",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:24:55.478220+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALAD were set to ",
"entity_name": "ALAD",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:24:31.628183+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HFE as ready",
"entity_name": "HFE",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:24:31.619259+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hfe has been classified as Red List (Low Evidence).",
"entity_name": "HFE",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:24:08.310348+10:00",
"panel_name": "Porphyria",
"panel_id": 3077,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-06-25T20:23:05.738904+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBE2A as ready",
"entity_name": "UBE2A",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:23:05.727546+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube2a has been classified as Green List (High Evidence).",
"entity_name": "UBE2A",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:22:56.784769+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBE2A were changed from to Mental retardation, X-linked syndromic, Nascimento-type (MIM#300860)",
"entity_name": "UBE2A",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:22:37.288687+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBE2A were set to ",
"entity_name": "UBE2A",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:22:17.536481+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UBE2A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "UBE2A",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:21:56.212651+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UBE2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24053514, 16909393; Phenotypes: Mental retardation, X-linked syndromic, Nascimento-type (MIM#300860); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "UBE2A",
"entity_type": "gene"
},
{
"created": "2020-06-25T20:20:46.751860+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBE2A as ready",
"entity_name": "UBE2A",
"entity_type": "gene"
}
]
}