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{
"count": 220377,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1301",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1299",
"results": [
{
"created": "2021-06-11T15:27:12.549086+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2ak2 has been classified as Green List (High Evidence).",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2021-06-11T15:27:00.455682+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EIF2AK2: Changed rating: GREEN",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2021-06-11T15:26:54.884835+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EIF2AK2: Added comment: PMID 33866603: further report of dystonia in a 3-generation family, same variant (p.Gly130Arg); Changed publications: 33236446, 33866603",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:30:29.741021+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RELN as ready",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:30:29.729915+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: reln has been classified as Red List (Low Evidence).",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:30:27.294281+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RELN were changed from to Lissencephaly 2 (Norman-Roberts type), MIM# 257320; ASD",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:29:57.113826+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RELN were set to ",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:29:38.150687+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RELN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:27:17.541938+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RELN as Red List (low evidence)",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:27:17.530907+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: reln has been classified as Red List (Low Evidence).",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:26:55.119737+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RELN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly 2 (Norman-Roberts type), MIM# 257320; Mode of inheritance: None",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:23:48.980288+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC37A4 as ready",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:23:48.967544+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc37a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:23:40.360300+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC37A4 were changed from to Glycogen storage disease Ib 232220; Glycogen storage disease Ic 232240; Congenital disorder of glycosylation",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:23:20.280098+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC37A4 were set to ",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:22:34.938986+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC37A4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:22:13.116234+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 33964207, 9675154, 9758626; Phenotypes: Glycogen storage disease Ib 232220, Glycogen storage disease Ic 232240, Congenital disorder of glycosylation; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:17:21.037474+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBA1A as ready",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:17:21.027422+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tuba1a has been classified as Green List (High Evidence).",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:16:42.309531+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBA1A were changed from to Lissencephaly 3, MIM# 611603; Congenital fibrosis of the extraocular muscles, AD",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:16:15.775376+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBA1A were set to ",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:15:47.033899+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBA1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:15:29.082206+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly 3, MIM# 611603; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:13:09.815727+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LTBP1 as ready",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:13:09.804381+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ltbp1 has been classified as Green List (High Evidence).",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:13:06.422156+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LTBP1 as Green List (high evidence)",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:13:06.412117+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ltbp1 has been classified as Green List (High Evidence).",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:12:36.755802+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LTBP1 was added\ngene: LTBP1 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature\nMode of inheritance for gene: LTBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LTBP1 were set to 33991472\nPhenotypes for gene: LTBP1 were set to cutis laxa syndrome\nReview for gene: LTBP1 was set to GREEN\nAdded comment: PMID:33991472\r\n- Premature truncating variants in multiple affected individuals from 4 unrelated consanguineous families.\r\n- Affected individuals present with connective tissue features (cutis laxa and inguinal hernia), craniofacial dysmorphology, variable heart defects, and prominent skeletal features (craniosynostosis, short stature, brachydactyly, and syndactyly).\r\n- Functional studies done on patient fibroblasts and zebrafish models. \nSources: Literature",
"entity_name": "LTBP1",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:09:03.537457+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATXN2L as ready",
"entity_name": "ATXN2L",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:09:03.527167+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atxn2l has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATXN2L",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:08:21.665572+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATXN2L as ready",
"entity_name": "ATXN2L",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:08:21.655631+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atxn2l has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATXN2L",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:07:49.781749+10:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL9A3 were changed from sensorineural hearing loss; midface hypoplasia; Stickler syndrome; myopia to Stickler syndrome, AR; Deafness, AD; Peripheral vitreoretinal degeneration and retinal detachment, AD",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:07:39.358612+10:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL9A3 were set to 31090205; 30450842; 20301479; 24273071",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:07:27.904582+10:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL9A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:07:17.129024+10:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL9A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33633367; Phenotypes: Stickler syndrome, AR, Deafness, AD, Peripheral vitreoretinal degeneration and retinal detachment, AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:05:11.369376+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL9A3 were changed from Epiphyseal dysplasia, multiple, 3, with or without myopathy, MIM# 600969; Stickler syndrome; Deafness to Epiphyseal dysplasia, multiple, 3, with or without myopathy, MIM# 600969; Stickler syndrome AR; Deafness AD; Peripheral vitreoretinal degeneration and retinal detachment, AD",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:04:30.759018+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL9A3 were set to 30450842; 31090205; 24273071; 10090888; 15551337; 33078831; 15917166",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:02:32.694081+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCAS3 were changed from to Syndromic neurodevelopmental disorder",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:02:11.004991+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BCAS3 were set to ",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-06-11T14:01:51.616045+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BCAS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-06-11T13:59:37.530362+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANGPTL8 as ready",
"entity_name": "ANGPTL8",
"entity_type": "gene"
},
{
"created": "2021-06-11T13:59:37.518289+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: angptl8 has been classified as Red List (Low Evidence).",
"entity_name": "ANGPTL8",
"entity_type": "gene"
},
{
"created": "2021-06-11T13:59:27.201188+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANGPTL8 as Red List (low evidence)",
"entity_name": "ANGPTL8",
"entity_type": "gene"
},
{
"created": "2021-06-11T13:59:27.190679+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: angptl8 has been classified as Red List (Low Evidence).",
"entity_name": "ANGPTL8",
"entity_type": "gene"
},
{
"created": "2021-06-11T13:58:47.988024+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SRCAP as ready",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2021-06-11T13:58:47.978214+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srcap has been classified as Green List (High Evidence).",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2021-06-11T13:58:29.349271+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRCAP were changed from to Floating-Harbor syndrome MIM#136140; Neurodevelopmental disorder, non-Floating Harbor",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2021-06-11T13:58:06.593896+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SRCAP were set to ",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2021-06-11T13:57:46.163511+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SRCAP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2021-06-11T13:56:28.197498+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SRCAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 33909990; Phenotypes: Floating-Harbor syndrome MIM#136140, Neurodevelopmental disorder, non-Floating Harbor; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2021-06-11T13:56:03.299246+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRCAP were changed from to Floating-Harbor syndrome MIM#136140; Neurodevelopmental disorder, non-Floating Harbor",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2021-06-11T13:55:35.907895+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SRCAP were set to ",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2021-06-11T13:55:01.105476+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SRCAP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2021-06-11T13:54:32.208068+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SRCAP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, non-Floating Harbor; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2021-06-11T13:50:49.886386+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAMTSL2 as ready",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2021-06-11T13:50:49.875585+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamtsl2 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2021-06-11T13:50:30.270548+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADAMTSL2 were changed from to Geleophysic dysplasia 1, MIM# 231050; Dermatosparaxic Ehlers Danlos syndrome",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2021-06-11T13:50:15.662961+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Six families reported with same variant. However, in five, no further segregation studies were performed and overall it is unclear whether this is a founder variant or a recurrent variant. No functional data.; to: Six families reported with same variant. However, in five, no further segregation studies were performed and overall it is unclear whether this is a founder variant or a recurrent variant. No functional data.\r\n\r\nNote association between bi-allelic variants and geleophysic dysplasia is well established.",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2021-06-11T13:49:50.051885+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADAMTSL2 were set to ",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2021-06-11T13:49:28.877665+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADAMTSL2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2021-06-11T13:49:12.334189+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADAMTSL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33369194, 26879370, 21415077; Phenotypes: Geleophysic dysplasia 1, MIM# 231050, Dermatosparaxic Ehlers Danlos syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2021-06-11T13:45:27.662924+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAMTSL2 as ready",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2021-06-11T13:45:27.648295+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamtsl2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2021-06-11T13:45:15.343503+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADAMTSL2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Dermatosparaxic Ehlers Danlos syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2021-06-11T09:29:29.850613+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UNC45A were changed from cholestasis; congenital diarrhea; impaired hearing; bone fragility to Osteootohepatoenteric syndrome, MIM# 619377; cholestasis; congenital diarrhea; impaired hearing; bone fragility",
"entity_name": "UNC45A",
"entity_type": "gene"
},
{
"created": "2021-06-11T09:28:55.521924+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UNC45A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteootohepatoenteric syndrome, MIM# 619377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC45A",
"entity_type": "gene"
},
{
"created": "2021-06-11T09:28:27.806277+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UNC45A were changed from Cholestasis; Diarrhoea; Bone fragility; Impaired hearing to Osteootohepatoenteric syndrome, MIM# 619377; Cholestasis; Diarrhoea; Bone fragility; Impaired hearing",
"entity_name": "UNC45A",
"entity_type": "gene"
},
{
"created": "2021-06-11T09:28:08.418350+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UNC45A: Changed phenotypes: Osteootohepatoenteric syndrome, MIM# 619377, Cholestasis, Diarrhoea, Bone fragility, Impaired hearing",
"entity_name": "UNC45A",
"entity_type": "gene"
},
{
"created": "2021-06-11T09:27:51.325013+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UNC45A were changed from Cholestasis; Diarrhoea; Bone fragility; Impaired hearing to Osteootohepatoenteric syndrome, MIM# 619377; Cholestasis; Diarrhoea; Bone fragility; Impaired hearing",
"entity_name": "UNC45A",
"entity_type": "gene"
},
{
"created": "2021-06-11T09:27:25.793952+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UNC45A: Changed phenotypes: Osteootohepatoenteric syndrome, MIM# 619377, Cholestasis, Diarrhoea, Bone fragility, Impaired hearing",
"entity_name": "UNC45A",
"entity_type": "gene"
},
{
"created": "2021-06-11T09:27:11.093390+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UNC45A were changed from Cholestasis; Diarrhoea; Bone fragility; Impaired hearing to Osteootohepatoenteric syndrome, MIM# 619377; Cholestasis; Diarrhoea; Bone fragility; Impaired hearing",
"entity_name": "UNC45A",
"entity_type": "gene"
},
{
"created": "2021-06-11T09:26:34.952728+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UNC45A: Changed phenotypes: Osteootohepatoenteric syndrome, MIM# 619377, Cholestasis, Diarrhoea, Bone fragility, Impaired hearing",
"entity_name": "UNC45A",
"entity_type": "gene"
},
{
"created": "2021-06-11T09:25:57.899741+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF5A were changed from Intellectual disability; microcephaly; dysmorphism to Faundes-Banka syndrome, MIM# 619376; Intellectual disability; microcephaly; dysmorphism",
"entity_name": "EIF5A",
"entity_type": "gene"
},
{
"created": "2021-06-11T09:25:22.582612+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EIF5A: Changed phenotypes: Faundes-Banka syndrome, MIM# 619376, Intellectual disability, microcephaly, dysmorphism",
"entity_name": "EIF5A",
"entity_type": "gene"
},
{
"created": "2021-06-11T09:25:05.062383+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF5A were changed from Intellectual disability; microcephaly; dysmorphism to Faundes-Banka syndrome, MIM# 619376; Intellectual disability; microcephaly; dysmorphism",
"entity_name": "EIF5A",
"entity_type": "gene"
},
{
"created": "2021-06-11T09:24:32.729800+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EIF5A: Changed phenotypes: Faundes-Banka syndrome, MIM# 619376, Intellectual disability, microcephaly, dysmorphism",
"entity_name": "EIF5A",
"entity_type": "gene"
},
{
"created": "2021-06-11T09:24:12.762103+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF5A were changed from Intellectual disability; microcephaly; dysmorphism to Faundes-Banka syndrome, MIM# 619376; Intellectual disability; microcephaly; dysmorphism",
"entity_name": "EIF5A",
"entity_type": "gene"
},
{
"created": "2021-06-11T09:23:49.012568+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EIF5A: Changed phenotypes: Faundes-Banka syndrome, MIM# 619376, Intellectual disability, microcephaly, dysmorphism",
"entity_name": "EIF5A",
"entity_type": "gene"
},
{
"created": "2021-06-11T09:21:29.679820+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HS3ST6 as ready",
"entity_name": "HS3ST6",
"entity_type": "gene"
},
{
"created": "2021-06-11T09:21:29.668873+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hs3st6 has been classified as Red List (Low Evidence).",
"entity_name": "HS3ST6",
"entity_type": "gene"
},
{
"created": "2021-06-11T09:21:18.401852+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HS3ST6 was added\ngene: HS3ST6 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: HS3ST6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HS3ST6 were set to 33508266\nPhenotypes for gene: HS3ST6 were set to Hereditary angioedema-8 (HAE8), MIM#619367\nReview for gene: HS3ST6 was set to RED\nAdded comment: Three affected individuals from a single family reported, missense variant, no functional data. \nSources: Expert list",
"entity_name": "HS3ST6",
"entity_type": "gene"
},
{
"created": "2021-06-11T09:19:15.571835+10:00",
"panel_name": "Hereditary angioedema",
"panel_id": 226,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HS3ST6 as ready",
"entity_name": "HS3ST6",
"entity_type": "gene"
},
{
"created": "2021-06-11T09:19:15.561045+10:00",
"panel_name": "Hereditary angioedema",
"panel_id": 226,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hs3st6 has been classified as Red List (Low Evidence).",
"entity_name": "HS3ST6",
"entity_type": "gene"
},
{
"created": "2021-06-11T09:18:40.364570+10:00",
"panel_name": "Hereditary angioedema",
"panel_id": 226,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HS3ST6 was added\ngene: HS3ST6 was added to Hereditary angioedema. Sources: Expert list\nMode of inheritance for gene: HS3ST6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HS3ST6 were set to 33508266\nPhenotypes for gene: HS3ST6 were set to Hereditary angioedema-8 (HAE8), MIM#619367\nReview for gene: HS3ST6 was set to RED\nAdded comment: Three affected individuals from a single family reported, missense variant, no functional data. \nSources: Expert list",
"entity_name": "HS3ST6",
"entity_type": "gene"
},
{
"created": "2021-06-11T08:32:19.118859+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYOF as ready",
"entity_name": "MYOF",
"entity_type": "gene"
},
{
"created": "2021-06-11T08:32:19.109716+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myof has been classified as Red List (Low Evidence).",
"entity_name": "MYOF",
"entity_type": "gene"
},
{
"created": "2021-06-11T08:31:52.371771+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYOF was added\ngene: MYOF was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: MYOF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MYOF were set to 32542751\nPhenotypes for gene: MYOF were set to Hereditary angioedema-7 (HAE7), MIM#619366\nReview for gene: MYOF was set to RED\nAdded comment: Three individuals from one family reported, onset of recurrent episodic swelling of the face, lips, and oral mucosa was in the second decade. Variant was also present in another unaffected family member. Some functional data. \nSources: Expert list",
"entity_name": "MYOF",
"entity_type": "gene"
},
{
"created": "2021-06-11T08:28:48.664586+10:00",
"panel_name": "Hereditary angioedema",
"panel_id": 226,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYOF as ready",
"entity_name": "MYOF",
"entity_type": "gene"
},
{
"created": "2021-06-11T08:28:48.653205+10:00",
"panel_name": "Hereditary angioedema",
"panel_id": 226,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myof has been classified as Red List (Low Evidence).",
"entity_name": "MYOF",
"entity_type": "gene"
},
{
"created": "2021-06-11T08:28:32.018507+10:00",
"panel_name": "Hereditary angioedema",
"panel_id": 226,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYOF was added\ngene: MYOF was added to Hereditary angioedema. Sources: Expert list\nMode of inheritance for gene: MYOF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MYOF were set to 32542751\nPhenotypes for gene: MYOF were set to Hereditary angioedema-7 (HAE7), MIM#619366\nReview for gene: MYOF was set to RED\nAdded comment: Three individuals from one family reported, onset of recurrent episodic swelling of the face, lips, and oral mucosa was in the second decade. Variant was also present in another unaffected family member. Some functional data. \nSources: Expert list",
"entity_name": "MYOF",
"entity_type": "gene"
},
{
"created": "2021-06-10T18:47:46.129004+10:00",
"panel_name": "Hereditary angioedema",
"panel_id": 226,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KNG1 as ready",
"entity_name": "KNG1",
"entity_type": "gene"
},
{
"created": "2021-06-10T18:47:46.118681+10:00",
"panel_name": "Hereditary angioedema",
"panel_id": 226,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kng1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KNG1",
"entity_type": "gene"
},
{
"created": "2021-06-10T18:47:41.700206+10:00",
"panel_name": "Hereditary angioedema",
"panel_id": 226,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KNG1 as Amber List (moderate evidence)",
"entity_name": "KNG1",
"entity_type": "gene"
},
{
"created": "2021-06-10T18:47:41.691488+10:00",
"panel_name": "Hereditary angioedema",
"panel_id": 226,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kng1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KNG1",
"entity_type": "gene"
},
{
"created": "2021-06-10T18:47:13.912818+10:00",
"panel_name": "Hereditary angioedema",
"panel_id": 226,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KNG1 was added\ngene: KNG1 was added to Hereditary angioedema. Sources: Expert list\nMode of inheritance for gene: KNG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KNG1 were set to 31087670; 33114181\nPhenotypes for gene: KNG1 were set to Hereditary angioedema-6 (HAE6), MIM#619363\nReview for gene: KNG1 was set to AMBER\nAdded comment: Onset of episodic subcutaneous and submucosal swelling is typically in adulthood. The face, mouth, and tongue are often affected; some patients have distal limb or abdominal oedema. C1INH levels are normal. Two unrelated multigenerational families reported. \nSources: Expert list",
"entity_name": "KNG1",
"entity_type": "gene"
},
{
"created": "2021-06-10T18:45:26.598939+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KNG1 as ready",
"entity_name": "KNG1",
"entity_type": "gene"
},
{
"created": "2021-06-10T18:45:26.588762+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kng1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KNG1",
"entity_type": "gene"
},
{
"created": "2021-06-10T18:45:05.046991+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KNG1 were changed from to Hereditary angioedema-6 (HAE6), MIM#619363",
"entity_name": "KNG1",
"entity_type": "gene"
},
{
"created": "2021-06-10T18:44:18.526942+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7909",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KNG1 were set to ",
"entity_name": "KNG1",
"entity_type": "gene"
}
]
}