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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2035",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2033",
"results": [
{
"created": "2019-12-18T10:11:48.515822+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.14",
"user_name": "Natasha Brown",
"item_type": "entity",
"text": "Publications for gene: DSCAM were set to ",
"entity_name": "DSCAM",
"entity_type": "gene"
},
{
"created": "2019-12-18T10:11:16.739568+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.13",
"user_name": "Natasha Brown",
"item_type": "entity",
"text": "Mode of inheritance for gene: DSCAM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DSCAM",
"entity_type": "gene"
},
{
"created": "2019-12-18T10:10:36.948656+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.12",
"user_name": "Natasha Brown",
"item_type": "entity",
"text": "reviewed gene: DSCAM: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27824329, 28191889, 21904980; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DSCAM",
"entity_type": "gene"
},
{
"created": "2019-12-18T10:09:05.107611+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1422",
"user_name": "Natasha Brown",
"item_type": "entity",
"text": "Marked gene: DSCAM as ready",
"entity_name": "DSCAM",
"entity_type": "gene"
},
{
"created": "2019-12-18T10:09:05.104433+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1422",
"user_name": "Natasha Brown",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Large cohort studies mean that individual phenotype data currently lacking in particular in relation to ID",
"entity_name": "DSCAM",
"entity_type": "gene"
},
{
"created": "2019-12-18T10:09:05.086504+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1422",
"user_name": "Natasha Brown",
"item_type": "entity",
"text": "Gene: dscam has been classified as Amber List (Moderate Evidence).",
"entity_name": "DSCAM",
"entity_type": "gene"
},
{
"created": "2019-12-18T10:08:28.999680+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1422",
"user_name": "Natasha Brown",
"item_type": "entity",
"text": "Phenotypes for gene: DSCAM were changed from to Autism; ID",
"entity_name": "DSCAM",
"entity_type": "gene"
},
{
"created": "2019-12-18T10:07:57.634720+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1421",
"user_name": "Natasha Brown",
"item_type": "entity",
"text": "Publications for gene: DSCAM were set to ",
"entity_name": "DSCAM",
"entity_type": "gene"
},
{
"created": "2019-12-18T10:07:40.382227+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1420",
"user_name": "Natasha Brown",
"item_type": "entity",
"text": "Mode of inheritance for gene: DSCAM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DSCAM",
"entity_type": "gene"
},
{
"created": "2019-12-18T10:07:18.672557+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1419",
"user_name": "Natasha Brown",
"item_type": "entity",
"text": "Classified gene: DSCAM as Amber List (moderate evidence)",
"entity_name": "DSCAM",
"entity_type": "gene"
},
{
"created": "2019-12-18T10:07:18.663832+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1419",
"user_name": "Natasha Brown",
"item_type": "entity",
"text": "Gene: dscam has been classified as Amber List (Moderate Evidence).",
"entity_name": "DSCAM",
"entity_type": "gene"
},
{
"created": "2019-12-18T09:59:12.159711+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.359",
"user_name": "Seb L",
"item_type": "entity",
"text": "changed review comment from: This gene is included in a large number of publications as it plays an central role immunity (MAJOR HISTOCOMPATIBILITY COMPLEX CLASS I CHAIN-RELATED GENE B). However beyond a number of susceptibility associations, it does not appear to have been firmly associated with disease in patients.; to: This gene is included in a large number of publications as it plays an central role immunity (MAJOR HISTOCOMPATIBILITY COMPLEX CLASS I CHAIN-RELATED GENE B). However beyond a number of susceptibility associations, it does not appear to have been firmly associated with disease in patients.\r\n\r\nhttps://ghr.nlm.nih.gov/gene/MICB#resources \r\n",
"entity_name": "MICB",
"entity_type": "gene"
},
{
"created": "2019-12-18T09:55:21.341903+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.359",
"user_name": "Seb L",
"item_type": "entity",
"text": "reviewed gene: MICB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "MICB",
"entity_type": "gene"
},
{
"created": "2019-12-18T09:45:33.074975+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1418",
"user_name": "Natasha Brown",
"item_type": "entity",
"text": "reviewed gene: DSCAM: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27824329, 28191889, 21904980; Phenotypes: Autism, ID; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DSCAM",
"entity_type": "gene"
},
{
"created": "2019-12-17T17:26:27.148449+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PISD as ready",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2019-12-17T17:26:27.141301+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pisd has been classified as Amber List (Moderate Evidence).",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2019-12-17T17:26:21.296685+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PISD as Amber List (moderate evidence)",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2019-12-17T17:26:21.289482+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pisd has been classified as Amber List (Moderate Evidence).",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2019-12-17T17:26:09.109891+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PISD was added\ngene: PISD was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: PISD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PISD were set to 30488656; 31263216; 30858161\nPhenotypes for gene: PISD were set to Spondylometaphyseal dysplasia with large epiphyses\nReview for gene: PISD was set to AMBER\nAdded comment: Two unrelated probands from non-consanguineous families identified as having the same homozygous variant; some functional data. Note there was some regions of homozygosity identified, indicative of distant relatedness and therefore founder effect.\r\nThree other families reported with bi-allelic variants in this gene in 2019 and a multi-system disorder including short stature, but skeletal findings not as well characterised as in this paper. \nSources: Literature",
"entity_name": "PISD",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:30:54.110637+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP1R12A as ready",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:30:54.103412+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1r12a has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:30:47.280573+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPP1R12A as Amber List (moderate evidence)",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:30:47.273516+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1r12a has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:30:33.197634+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPP1R12A was added\ngene: PPP1R12A was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Research\nMode of inheritance for gene: PPP1R12A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PPP1R12A were set to Intellectual disability; holoprosencephaly; disorder of sex development\nAdded comment: Emerging evidence. \nSources: Research",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:27:31.175372+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPP1R12A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, holoprosencephaly, disorder of sex development; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:26:51.445299+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia_VCGS",
"panel_id": 112,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP1R12A as ready",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:26:51.437755+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia_VCGS",
"panel_id": 112,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1r12a has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:26:44.302117+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia_VCGS",
"panel_id": 112,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPP1R12A were changed from to Intellectual disability; holoprosencephaly; disorder of sex development",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:26:14.410778+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia_VCGS",
"panel_id": 112,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPP1R12A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:25:49.604446+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia_VCGS",
"panel_id": 112,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPP1R12A as Amber List (moderate evidence)",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:25:49.596402+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia_VCGS",
"panel_id": 112,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1r12a has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:25:21.812266+11:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia_VCGS",
"panel_id": 112,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPP1R12A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, holoprosencephaly, disorder of sex development; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:24:47.083568+11:00",
"panel_name": "Disorders of Sex Differentiation_VCGS",
"panel_id": 99,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP1R12A as ready",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:24:47.076420+11:00",
"panel_name": "Disorders of Sex Differentiation_VCGS",
"panel_id": 99,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1r12a has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:24:34.571946+11:00",
"panel_name": "Disorders of Sex Differentiation_VCGS",
"panel_id": 99,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPP1R12A were changed from to Intellectual disability; holoprosencephaly; disorder of sex development",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:23:34.334624+11:00",
"panel_name": "Disorders of Sex Differentiation_VCGS",
"panel_id": 99,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPP1R12A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:23:17.421272+11:00",
"panel_name": "Disorders of Sex Differentiation_VCGS",
"panel_id": 99,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPP1R12A as Amber List (moderate evidence)",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:23:17.355578+11:00",
"panel_name": "Disorders of Sex Differentiation_VCGS",
"panel_id": 99,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1r12a has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:22:49.978433+11:00",
"panel_name": "Disorders of Sex Differentiation_VCGS",
"panel_id": 99,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPP1R12A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, holoprosencephaly, disorder of sex development; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPP1R12A",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:20:21.993960+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANKRD17 as ready",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:20:21.986149+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ankrd17 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:19:58.398673+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANKRD17 as Amber List (moderate evidence)",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:19:58.391599+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ankrd17 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:19:23.248739+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANKRD17 was added\ngene: ANKRD17 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Research\nMode of inheritance for gene: ANKRD17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ANKRD17 were set to Intellectual disability; dysmorphic features\nReview for gene: ANKRD17 was set to AMBER\nAdded comment: Emerging evidence. \nSources: Research",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:17:44.691227+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANKRD17 as ready",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:17:44.684179+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ankrd17 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:17:37.463208+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANKRD17 were changed from to Intellectual disability; dysmorphic features",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:16:59.832917+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANKRD17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:16:32.276697+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANKRD17 as Amber List (moderate evidence)",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:16:32.267474+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ankrd17 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:14:00.302508+11:00",
"panel_name": "Genetic Epilepsy_AustralianGenomics_VCGS",
"panel_id": 202,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANKRD17: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, dysmorphic features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:12:36.385832+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANKRD17 as ready",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:12:36.376823+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ankrd17 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:11:22.145655+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANKRD17 were changed from to Intellectual disability; dysmorphic features",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:10:56.591069+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANKRD17 as Amber List (moderate evidence)",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:10:56.583733+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ankrd17 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:10:39.141343+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANKRD17: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, dysmorphic features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANKRD17",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:06:42.511821+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZFHX3 as ready",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:06:42.508646+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Emerging evidence.",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:06:42.490047+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zfhx3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:05:57.863898+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:05:57.238157+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Personal communication: Over 20 individuals with mostly de novo variants in this gene and mild ID/DD \nSources: Research; to: Emerging evidence.\r\nSources: Research",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:05:12.496875+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZFHX3 as Amber List (moderate evidence)",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2019-12-17T16:05:12.489182+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zfhx3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:18.647777+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: ISCA-37501-Loss was added\nRegion: ISCA-37501-Loss was added to Skeletal dysplasia. Sources: Expert list,Expert Review Green\nMode of inheritance for Region: ISCA-37501-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37501-Loss were set to 20206336; 22052739\nPhenotypes for Region: ISCA-37501-Loss were set to Chromosome 17q23.1-q23.2 deletion syndrome, 613355; PMID:20206336 mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, hand, foot and limb abnormalities; PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss",
"entity_name": "ISCA-37501-Loss",
"entity_type": "region"
},
{
"created": "2019-12-17T13:07:18.576669+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: ISCA-37441-Loss was added\nRegion: ISCA-37441-Loss was added to Skeletal dysplasia. Sources: NHS GMS,ClinGen,Expert Review Green\nMode of inheritance for Region: ISCA-37441-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37441-Loss were set to 15852040; 20140962; 16319823\nPhenotypes for Region: ISCA-37441-Loss were set to parietal foramina; mental retardation; intellectual disability; ophthalmologic anomalies; Potocki-Shaffer syndrome; myopia; biparietal foramina; enlarged anterior fontanel; minor craniofacial anomalies; genital abnormalities in males; developmental delay; multiple exostoses; strabismus; 601224",
"entity_name": "ISCA-37441-Loss",
"entity_type": "region"
},
{
"created": "2019-12-17T13:07:18.501366+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: ISCA-37434-Loss was added\nRegion: ISCA-37434-Loss was added to Skeletal dysplasia. Sources: NHS GMS,ClinGen,Expert Review Green\nMode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37434-Loss were set to 18245432; 17918734; 22766398\nPhenotypes for Region: ISCA-37434-Loss were set to microcephaly; 1p36 deletion syndrome; large anterior fontanels; large, late-closing anterior fontanel; deep-set eyes; central nervous system anomalies; pointed chin; heart defects; poor/absent speech; hypotonia; brachycephaly; hearing impairment; 607872; growth impairment; flat nose; nasal bridge; mental retardation; seizures; epicanthus; microbrachycephaly; posteriorly rotated, low-set, abnormal ears; developmental delay; distinct dysmorphic features",
"entity_name": "ISCA-37434-Loss",
"entity_type": "region"
},
{
"created": "2019-12-17T13:07:18.422743+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: ISCA-37418-Loss was added\nRegion: ISCA-37418-Loss was added to Skeletal dysplasia. Sources: NHS GMS,ClinGen,Expert Review Green\nMode of inheritance for Region: ISCA-37418-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for Region: ISCA-37418-Loss were set to Potocki-Lupski syndrome; Smith-Magenis syndrome; moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems; 182290; Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance; hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, congenital anomalies; Dental abnormalities; hypotonia, poor feeding, failure to thrive, developmental delay particularly cognitive and language deficity, mild-moderate intellectual deficit, and neuropsychiatric disorders",
"entity_name": "ISCA-37418-Loss",
"entity_type": "region"
},
{
"created": "2019-12-17T13:07:18.348308+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: ISCA-37406-Loss was added\nRegion: ISCA-37406-Loss was added to Skeletal dysplasia. Sources: NHS GMS,ClinGen,Expert Review Green\nMode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37406-Loss were set to 16783566; 10573006\nPhenotypes for Region: ISCA-37406-Loss were set to PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes; 610543",
"entity_name": "ISCA-37406-Loss",
"entity_type": "region"
},
{
"created": "2019-12-17T13:07:18.275217+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Region: ISCA-37394-Loss was added\nRegion: ISCA-37394-Loss was added to Skeletal dysplasia. Sources: NHS GMS,ClinGen,Expert Review Green\nMode of inheritance for Region: ISCA-37394-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37394-Loss were set to 25402011; 23188045\nPhenotypes for Region: ISCA-37394-Loss were set to 2q37 deletion syndrome is a condition that can affect many parts of the body. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. PMID 23188045 brachydactyly-mental retardation syndrome, Albright hereditary osteodystrophy-like syndrome, developmental delay and behavioural abnormalities in combination; 600430",
"entity_name": "ISCA-37394-Loss",
"entity_type": "region"
},
{
"created": "2019-12-17T13:07:18.140175+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNF423 was added\ngene: ZNF423 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: ZNF423 was set to ",
"entity_name": "ZNF423",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:17.917540+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZIC3 was added\ngene: ZIC3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: ZIC3 was set to ",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:17.742509+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZBTB16 was added\ngene: ZBTB16 was added to Skeletal dysplasia. Sources: Expert Review Red,Expert list,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: ZBTB16 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZBTB16 were set to Skeletal defects, genital hypoplasia, and mental retardation 612447",
"entity_name": "ZBTB16",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:17.544590+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: XPNPEP3 was added\ngene: XPNPEP3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: XPNPEP3 was set to ",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:17.361736+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WRN was added\ngene: WRN was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS\nMode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WRN were set to Werner syndrome -277700",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:17.086352+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WNT3 was added\ngene: WNT3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: WNT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WNT3 were set to 14872406\nPhenotypes for gene: WNT3 were set to Tetra-amelia syndrome 273395",
"entity_name": "WNT3",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:16.862354+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WHRN was added\ngene: WHRN was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: WHRN was set to ",
"entity_name": "WHRN",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:16.688467+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VHL was added\ngene: VHL was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: VHL was set to ",
"entity_name": "VHL",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:16.525089+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VAC14 was added\ngene: VAC14 was added to Skeletal dysplasia. Sources: Other\nMode of inheritance for gene: VAC14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VAC14 were set to 28635952\nPhenotypes for gene: VAC14 were set to Yunis-Varon syndrome (YVS) (includes multiple skeletal anomalies)",
"entity_name": "VAC14",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:16.333633+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: USP9X was added\ngene: USP9X was added to Skeletal dysplasia. Sources: \nMode of inheritance for gene: USP9X was set to \nPhenotypes for gene: USP9X were set to New syndrom with skd",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:16.161021+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: USH2A was added\ngene: USH2A was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: USH2A was set to ",
"entity_name": "USH2A",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:15.991467+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: USH1G was added\ngene: USH1G was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: USH1G was set to ",
"entity_name": "USH1G",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:15.732380+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: USH1C was added\ngene: USH1C was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: USH1C was set to ",
"entity_name": "USH1C",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:15.544836+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UMOD was added\ngene: UMOD was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: UMOD was set to ",
"entity_name": "UMOD",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:15.362740+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UFSP2 was added\ngene: UFSP2 was added to Skeletal dysplasia. Sources: NHS GMS\nMode of inheritance for gene: UFSP2 was set to \nPublications for gene: UFSP2 were set to 28892125; 26428751\nPhenotypes for gene: UFSP2 were set to Beukes Hip Dysplasia 142669, Spondyloepimetaphyseal dysplasia, Di Rocco type 617974",
"entity_name": "UFSP2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:15.200837+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TULP1 was added\ngene: TULP1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: TULP1 was set to ",
"entity_name": "TULP1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:14.938371+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSC2 was added\ngene: TSC2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: TSC2 was set to ",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:14.754145+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSC1 was added\ngene: TSC1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: TSC1 was set to ",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:14.455681+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRMT10A was added\ngene: TRMT10A was added to Skeletal dysplasia. Sources: Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: TRMT10A was set to \nPhenotypes for gene: TRMT10A were set to Microcephaly, short stature and impaired glucose metabolism, 616033",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:14.284985+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRIM32 was added\ngene: TRIM32 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Red\nMode of inheritance for gene: TRIM32 was set to \nPhenotypes for gene: TRIM32 were set to Polydactyly; Bardet-Biedl syndrome 11, 615988",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:14.120298+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TOPORS was added\ngene: TOPORS was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: TOPORS was set to ",
"entity_name": "TOPORS",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:13.943639+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNXB was added\ngene: TNXB was added to Skeletal dysplasia. Sources: Expert\nMode of inheritance for gene: TNXB was set to ",
"entity_name": "TNXB",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:13.778550+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM67 was added\ngene: TMEM67 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM67 were set to COACH syndrome 216360; Meckel syndrome 3 607361; {Bardet-Biedl syndrome 14, modifier of} 615991; Joubert syndrome 6 610688",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:13.569975+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM237 was added\ngene: TMEM237 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: TMEM237 was set to ",
"entity_name": "TMEM237",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:13.413085+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM138 was added\ngene: TMEM138 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: TMEM138 was set to ",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:13.247166+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: THPO was added\ngene: THPO was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red,Illumina TruGenome Clinical Sequencing Services\nMode of inheritance for gene: THPO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: THPO were set to 22453305; 19553636\nPhenotypes for gene: THPO were set to Thrombocythemia 1 187950 (rare presentation with congenital limb defects)\nMode of pathogenicity for gene: THPO was set to Other - please provide details in the comments",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:12.933880+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TGDS was added\ngene: TGDS was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS\nMode of inheritance for gene: TGDS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TGDS were set to 25480037\nPhenotypes for gene: TGDS were set to Catel-Manzke syndrome 616145",
"entity_name": "TGDS",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:12.766778+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TDP2 was added\ngene: TDP2 was added to Skeletal dysplasia. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: TDP2 was set to \nPhenotypes for gene: TDP2 were set to Dentinogenesis imperfecta, Shields type II, 125490",
"entity_name": "TDP2",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:12.545007+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TCTN1 was added\ngene: TCTN1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory\nMode of inheritance for gene: TCTN1 was set to ",
"entity_name": "TCTN1",
"entity_type": "gene"
},
{
"created": "2019-12-17T13:07:12.372995+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPECC1L was added\ngene: SPECC1L was added to Skeletal dysplasia. Sources: Expert Review Red,Expert list,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: SPECC1L was set to Other\nPublications for gene: SPECC1L were set to 26111080\nPhenotypes for gene: SPECC1L were set to Facial clefting, oblique, 1 600251; Opitz GBBB syndrome, type II 145410; Teebi hyperterorism like syndrome 145420",
"entity_name": "SPECC1L",
"entity_type": "gene"
}
]
}