HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220489,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1276",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1274",
"results": [
{
"created": "2021-07-07T17:34:45.563852+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: None; Publications: 21258341, 25492405, 18327258, 33875766; Phenotypes: Nephronophthisis 12, MIM# 613820, Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2021-07-07T17:31:38.525074+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAF3IP1 were changed from Senior-Loken syndrome 9 MIM#616629 to Senior-Loken syndrome 9, MIM# 616629; MONDO:0014712",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2021-07-07T17:31:22.953066+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAF3IP1 were set to 26487268",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2021-07-07T17:31:05.537670+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRAF3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26487268, 18364699, 21945076; Phenotypes: Senior-Loken syndrome 9, MIM# 616629, MONDO:0014712; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2021-07-07T17:30:34.848145+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAF3IP1 as ready",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2021-07-07T17:30:34.836609+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: traf3ip1 has been classified as Green List (High Evidence).",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2021-07-07T17:30:32.681523+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAF3IP1 were changed from to Senior-Loken syndrome 9, MIM# 616629; MONDO:0014712",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2021-07-07T17:30:03.453525+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAF3IP1 were set to ",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2021-07-07T17:29:35.779636+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRAF3IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2021-07-07T17:29:03.738206+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRAF3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26487268, 18364699, 21945076; Phenotypes: Senior-Loken syndrome 9, MIM# 616629, MONDO:0014712; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2021-07-07T17:28:29.247149+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAF3IP1 as ready",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2021-07-07T17:28:29.237682+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: traf3ip1 has been classified as Green List (High Evidence).",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2021-07-07T17:28:23.386859+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAF3IP1 were changed from to Senior-Loken syndrome 9, MIM# 616629; MONDO:0014712",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2021-07-07T17:27:56.851181+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAF3IP1 were set to ",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2021-07-07T17:27:24.506160+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRAF3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26487268, 18364699, 21945076; Phenotypes: Senior-Loken syndrome 9, MIM# 616629, MONDO:0014712; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2021-07-07T17:26:29.651106+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAF3IP1 as ready",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2021-07-07T17:26:29.640798+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: traf3ip1 has been classified as Green List (High Evidence).",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2021-07-07T17:26:03.678486+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAF3IP1 were changed from to Senior-Loken syndrome 9, MIM# 616629; MONDO:0014712",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2021-07-07T17:25:28.797535+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAF3IP1 were set to ",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2021-07-07T17:25:09.067335+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRAF3IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2021-07-07T17:24:33.711441+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRAF3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26487268, 18364699, 21945076; Phenotypes: Senior-Loken syndrome 9, MIM# 616629, MONDO:0014712; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2021-07-07T17:23:37.256438+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAF3IP1 as ready",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2021-07-07T17:23:37.246939+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: traf3ip1 has been classified as Green List (High Evidence).",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2021-07-07T17:23:35.183671+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAF3IP1 were changed from to Senior-Loken syndrome 9, MIM# 616629; MONDO:0014712",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2021-07-07T17:23:00.454227+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAF3IP1 were set to ",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2021-07-07T17:22:38.301190+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRAF3IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2021-07-07T17:22:09.238765+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRAF3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26487268, 18364699, 21945076; Phenotypes: Senior-Loken syndrome 9, MIM# 616629, MONDO:0014712; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2021-07-07T15:08:38.572073+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP9A as ready",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-07-07T15:08:38.561053+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp9a has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-07-07T15:08:33.597688+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP9A as Amber List (moderate evidence)",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-07-07T15:08:33.587515+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp9a has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-07-07T15:08:10.071004+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP9A was added\ngene: ATP9A was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: ATP9A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP9A were set to http://dx.doi.org/10.1136/jmedgenet-2021-107843\nPhenotypes for gene: ATP9A were set to Neurodevelopmental delay; Postnatal microcephaly; Failure to thrive; Gastrointestinal symptoms\nReview for gene: ATP9A was set to AMBER\nAdded comment: Vogt et al. 2021 report on 3 individuals from 2 unrelated consanguineous families with different homozygous truncating variants in ATP9A, presenting with DD/ID of variable degree (2 mild, 1 severe), postnatal microcephaly (OFC range: −2.33 SD to −3.58 SD), failure to thrive, and gastrointestinal symptoms. Patient-derived fibroblasts showed reduced expression of ATP9A, and consistent with previous findings also overexpression of interacting partners, ARPC3 and SNX3. \nSources: Literature",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-07-07T15:07:54.511440+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3930",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: FTCD: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29178637, 30740726; Phenotypes: Glutamate formiminotransferase deficiency MIM#229100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2021-07-07T15:06:54.075344+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP9A as ready",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-07-07T15:06:54.065563+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp9a has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-07-07T15:06:45.975858+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP9A as Amber List (moderate evidence)",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-07-07T15:06:45.964736+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp9a has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-07-07T15:06:14.087797+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP9A was added\ngene: ATP9A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ATP9A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP9A were set to http://dx.doi.org/10.1136/jmedgenet-2021-107843\nPhenotypes for gene: ATP9A were set to Neurodevelopmental delay; Postnatal microcephaly; Failure to thrive; Gastrointestinal symptoms\nReview for gene: ATP9A was set to AMBER\nAdded comment: Vogt et al. 2021 report on 3 individuals from 2 unrelated consanguineous families with different homozygous truncating variants in ATP9A, presenting with DD/ID of variable degree (2 mild, 1 severe), postnatal microcephaly (OFC range: −2.33 SD to −3.58 SD), failure to thrive, and gastrointestinal symptoms. Patient-derived fibroblasts showed reduced expression of ATP9A, and consistent with previous findings also overexpression of interacting partners, ARPC3 and SNX3. \nSources: Literature",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-07-07T15:05:04.271926+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP9A as Amber List (moderate evidence)",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-07-07T15:05:04.262963+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp9a has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-07-07T15:03:12.627232+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP2C2 as ready",
"entity_name": "ATP2C2",
"entity_type": "gene"
},
{
"created": "2021-07-07T15:03:12.616518+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp2c2 has been classified as Red List (Low Evidence).",
"entity_name": "ATP2C2",
"entity_type": "gene"
},
{
"created": "2021-07-07T15:02:53.006369+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP2C2 was added\ngene: ATP2C2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ATP2C2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP2C2 were set to 33864365; 28440294\nPhenotypes for gene: ATP2C2 were set to language impairment, HP:0002463\nReview for gene: ATP2C2 was set to RED\nAdded comment: PMID: 33864365 - Martinelli et al 2021 - report a family with a missense variant NM_001286527.2:c.304G>A, p.(Val102Met) in ATP2C2 in a father and two siblings with specific language impairment. However two other affected siblings did not have this variant. This variant was also reported by Chen et al. They found that the variant had a higher frequency in language cases (1.8%, N = 360) compared with cohorts selected for dyslexia (0.8%, N = 520) and ADHD (0.7%, N = 150), which presented frequencies comparable to reference databases (0.9%, N = 24 046 gnomAD controls). They postulate that variant is not sufficient on its own to cause a disorder but is a susceptibility factor which increases the risk for language impairment. PMID: 28440294 - Chen et al 2017 - report 2 probands with severe learning impairment, and missense variants in ATP2C2 (NM_001286527: c.G304A:p.V102M and NM_001291454:exon21: c.C1936T:p.R646W). \nSources: Literature",
"entity_name": "ATP2C2",
"entity_type": "gene"
},
{
"created": "2021-07-07T15:01:20.758637+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP2C2 as Red List (low evidence)",
"entity_name": "ATP2C2",
"entity_type": "gene"
},
{
"created": "2021-07-07T15:01:20.747939+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp2c2 has been classified as Red List (Low Evidence).",
"entity_name": "ATP2C2",
"entity_type": "gene"
},
{
"created": "2021-07-07T15:00:16.788374+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OBSCN were set to 30681346; 26573135; 17716621; 25173926; 28630914",
"entity_name": "OBSCN",
"entity_type": "gene"
},
{
"created": "2021-07-07T14:59:46.723113+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OBSCN: Rating: RED; Mode of pathogenicity: None; Publications: 33438037; Phenotypes: Hypertrophic cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "OBSCN",
"entity_type": "gene"
},
{
"created": "2021-07-07T14:58:52.985617+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag refuted was removed from gene: OBSCN.\nTag disputed tag was added to gene: OBSCN.",
"entity_name": "OBSCN",
"entity_type": "gene"
},
{
"created": "2021-07-07T14:58:09.029572+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OBSCN were set to 30681346; 26573135; 17716621; 25173926; 28630914",
"entity_name": "OBSCN",
"entity_type": "gene"
},
{
"created": "2021-07-07T14:57:47.401959+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag refuted tag was added to gene: OBSCN.",
"entity_name": "OBSCN",
"entity_type": "gene"
},
{
"created": "2021-07-07T14:56:28.835811+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: P2RX2 were set to 23345450; 24211385",
"entity_name": "P2RX2",
"entity_type": "gene"
},
{
"created": "2021-07-07T14:55:54.920881+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: P2RX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33791800; Phenotypes: Deafness, autosomal dominant 41, MIM# 608224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "P2RX2",
"entity_type": "gene"
},
{
"created": "2021-07-07T14:55:13.342853+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: P2RX2 were set to 23345450; 24211385",
"entity_name": "P2RX2",
"entity_type": "gene"
},
{
"created": "2021-07-07T14:54:05.876438+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP2S1 were set to 33729479; 33057194; 23222959; 33729479; 33168530; 3204769; 31723423; 29479578",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2021-07-07T14:53:39.584455+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP2S1 were set to 33729479; 33057194; 23222959; 33729479; 33168530; 3204769; 31723423; 2947957; 8",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2021-07-07T14:53:09.413706+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP2S1 were set to 33057194; 23222959; 33729479; 33168530; 3204769; 31723423; 29479578",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2021-07-07T01:46:36.588121+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8229",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: ATP9A was added\ngene: ATP9A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ATP9A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP9A were set to http://dx.doi.org/10.1136/jmedgenet-2021-107843\nPhenotypes for gene: ATP9A were set to Neurodevelopmental delay; Postnatal microcephaly; Failure to thrive; Gastrointestinal symptoms\nReview for gene: ATP9A was set to AMBER\nAdded comment: Vogt et al. 2021 report on 3 individuals from 2 unrelated consanguineous families with different homozygous truncating variants in ATP9A, presenting with DD/ID of variable degree (2 mild, 1 severe), postnatal microcephaly (OFC range: −2.33 SD to −3.58 SD), failure to thrive, and gastrointestinal symptoms. Patient-derived fibroblasts showed reduced expression of ATP9A, and consistent with previous findings also overexpression of interacting partners, ARPC3 and SNX3. \nSources: Literature",
"entity_name": "ATP9A",
"entity_type": "gene"
},
{
"created": "2021-07-06T22:56:16.415145+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8229",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: ATP2C2 was added\ngene: ATP2C2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ATP2C2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ATP2C2 were set to 33864365; 28440294\nPhenotypes for gene: ATP2C2 were set to language impairment, HP:0002463\nReview for gene: ATP2C2 was set to RED\nAdded comment: PMID: 33864365 - Martinelli et al 2021 - report a family with a missense variant NM_001286527.2:c.304G>A, p.(Val102Met) in ATP2C2 in a father and two siblings with specific language impairment. However two other affected siblings did not have this variant. This variant was also reported by Chen et al. They found that the variant had a higher frequency in language cases (1.8%, N = 360) compared with cohorts selected for dyslexia (0.8%, N = 520) and ADHD (0.7%, N = 150), which presented frequencies comparable to reference databases (0.9%, N = 24 046 gnomAD controls). They postulate that variant is not sufficient on its own to cause a disorder but is a susceptibility factor which increases the risk for language impairment.\r\n\r\nPMID: 28440294 - Chen et al 2017 - report 2 probands with severe learning impairment, and missense variants in ATP2C2 (NM_001286527: c.G304A:p.V102M and NM_001291454:exon21: c.C1936T:p.R646W). \nSources: Literature",
"entity_name": "ATP2C2",
"entity_type": "gene"
},
{
"created": "2021-07-06T22:08:54.383364+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8229",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: OBSCN: Rating: RED; Mode of pathogenicity: None; Publications: 33438037; Phenotypes: ; Mode of inheritance: None",
"entity_name": "OBSCN",
"entity_type": "gene"
},
{
"created": "2021-07-06T21:33:18.315444+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8229",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: P2RX2: Rating: ; Mode of pathogenicity: None; Publications: 33791800; Phenotypes: ; Mode of inheritance: None",
"entity_name": "P2RX2",
"entity_type": "gene"
},
{
"created": "2021-07-06T20:54:57.087841+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8229",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: AP2S1: Rating: ; Mode of pathogenicity: None; Publications: 33729479; Phenotypes: ; Mode of inheritance: None",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2021-07-06T20:17:20.602067+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM67 as ready",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-07-06T20:17:20.591719+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem67 has been classified as Green List (High Evidence).",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-07-06T20:16:52.460612+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM67 were changed from Joubert syndrome 6, MIM# 610688; Meckel syndrome 3, MIM# 607361; COACH syndrome 1, MIM# 216360 to Joubert syndrome 6, MIM# 610688; Meckel syndrome 3, MIM# 607361; COACH syndrome 1, MIM# 216360",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-07-06T20:16:38.175612+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM67 were changed from to Joubert syndrome 6, MIM# 610688; Meckel syndrome 3, MIM# 607361; COACH syndrome 1, MIM# 216360",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-07-06T20:16:10.671299+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM67 were set to ",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-07-06T20:15:36.969897+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM67 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-07-06T20:15:08.027340+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: None; Publications: 16415887, 17377820, 17160906, 19508969; Phenotypes: Joubert syndrome 6, MIM# 610688, Meckel syndrome 3, MIM# 607361, COACH syndrome 1, MIM# 216360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-07-06T20:13:37.829372+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM67 as ready",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-07-06T20:13:37.819497+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem67 has been classified as Red List (Low Evidence).",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-07-06T20:13:33.532974+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM67 were changed from to Joubert syndrome 6, MIM# 610688; Meckel syndrome 3, MIM# 607361; Nephronophthisis 11, MIM# 613550; COACH syndrome 1, MIM# 216360",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-07-06T20:13:06.648094+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM67 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-07-06T20:12:36.422927+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM67 as Red List (low evidence)",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-07-06T20:12:36.413851+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem67 has been classified as Red List (Low Evidence).",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-07-06T20:12:06.215414+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM67: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 6, MIM# 610688, Meckel syndrome 3, MIM# 607361, Nephronophthisis 11, MIM# 613550, COACH syndrome 1, MIM# 216360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-07-06T20:11:14.576800+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM67 as ready",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-07-06T20:11:14.567038+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem67 has been classified as Green List (High Evidence).",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-07-06T20:11:05.904989+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM67 were changed from to Joubert syndrome 6, MIM# 610688; Meckel syndrome 3, MIM# 607361; Nephronophthisis 11, MIM# 613550; COACH syndrome 1, MIM# 216360",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-07-06T20:10:40.490831+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM67 were set to ",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-07-06T20:10:14.971456+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM67 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-07-06T20:09:52.780743+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-07-06T20:09:45.514320+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TMEM67: Added comment: Bi-allelic variants in this gene are associated with a range of ciliopathies, including JBTS, Meckel syndrome and nephronophthisis. Multiple families with each.; Changed publications: 16415887, 17377820, 17160906, 19508969; Changed phenotypes: Joubert syndrome 6, MIM# 610688, Meckel syndrome 3, MIM# 607361, Nephronophthisis 11, MIM# 613550, COACH syndrome 1, MIM# 216360",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-07-06T20:08:36.910391+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM67 as ready",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-07-06T20:08:36.899211+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem67 has been classified as Green List (High Evidence).",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-07-06T20:08:26.982917+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM67 were changed from to Joubert syndrome 6, MIM# 610688; Meckel syndrome 3, MIM# 607361; Nephronophthisis 11, MIM# 613550; COACH syndrome 1, MIM# 216360",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-07-06T20:08:02.674288+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM67 were set to ",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-07-06T19:59:34.392710+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.427",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM67 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-07-06T19:59:02.591052+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Bi-allelic variants in this gene are associated with a range of ciliopathies, including JBTS and Meckel syndrome. Multiple families with each.; to: Bi-allelic variants in this gene are associated with a range of ciliopathies, including JBTS, Meckel syndrome and nephronophthisis. Multiple families with each.",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-07-06T19:58:11.219685+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.426",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TMEM67: Changed phenotypes: Joubert syndrome 6, MIM# 610688, Meckel syndrome 3, MIM# 607361, Nephronophthisis 11, MIM# 613550, COACH syndrome 1, MIM# 216360",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-07-06T19:50:57.582343+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: XDH as ready",
"entity_name": "XDH",
"entity_type": "gene"
},
{
"created": "2021-07-06T19:50:57.568442+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xdh has been classified as Green List (High Evidence).",
"entity_name": "XDH",
"entity_type": "gene"
},
{
"created": "2021-07-06T19:50:42.003512+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: XDH were changed from to Xanthinuria, type I (MIM#278300)",
"entity_name": "XDH",
"entity_type": "gene"
},
{
"created": "2021-07-06T19:49:49.831915+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: XDH were set to ",
"entity_name": "XDH",
"entity_type": "gene"
},
{
"created": "2021-07-06T19:49:33.146445+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: XDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "XDH",
"entity_type": "gene"
},
{
"created": "2021-07-06T19:47:36.390718+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CBL as ready",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2021-07-06T19:47:36.375487+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cbl has been classified as Green List (High Evidence).",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2021-07-06T19:47:31.090365+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CBL were set to 25283271; 28343148",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2021-07-06T19:47:12.008679+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CBL as Green List (high evidence)",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2021-07-06T19:47:11.992736+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cbl has been classified as Green List (High Evidence).",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2021-07-06T16:28:37.317944+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8223",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: XDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 32071838; Phenotypes: Xanthinuria, type I (MIM#278300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "XDH",
"entity_type": "gene"
}
]
}