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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2015",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2013",
"results": [
{
"created": "2020-01-02T09:40:38.246013+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRAP as ready",
"entity_name": "GRAP",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:40:38.233486+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grap has been classified as Red List (Low Evidence).",
"entity_name": "GRAP",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:40:26.477235+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRAP was added\ngene: GRAP was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: GRAP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GRAP were set to 30610177\nPhenotypes for gene: GRAP were set to Deafness, autosomal recessive 114, MIM#\t618456\nReview for gene: GRAP was set to RED\nAdded comment: Two apparently unrelated Turkish families reported, however same homozygous missense variant, and SNP analysis indicated identity by descent. \nSources: Expert list",
"entity_name": "GRAP",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:37:54.730048+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRAP was added\ngene: GRAP was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: GRAP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GRAP were set to 30610177\nPhenotypes for gene: GRAP were set to Deafness, autosomal recessive 114, MIM#\t618456\nReview for gene: GRAP was set to RED\nAdded comment: Two apparently unrelated Turkish families reported, however same homozygous missense variant, and SNP analysis indicated identity by descent. \nSources: Expert list",
"entity_name": "GRAP",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:34:20.321046+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPNS2 as ready",
"entity_name": "SPNS2",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:34:20.309278+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spns2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPNS2",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:34:10.780840+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPNS2 as Amber List (moderate evidence)",
"entity_name": "SPNS2",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:34:10.770161+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spns2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPNS2",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:33:52.444295+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPNS2 was added\ngene: SPNS2 was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: SPNS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPNS2 were set to 25356849\nPhenotypes for gene: SPNS2 were set to Deafness, autosomal recessive 115, MIM#\t618457\nReview for gene: SPNS2 was set to AMBER\nAdded comment: Single family reported, mouse model shows progressive hearing loss. \nSources: Expert list",
"entity_name": "SPNS2",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:32:03.562585+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPNS2 as ready",
"entity_name": "SPNS2",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:32:03.550343+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spns2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPNS2",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:31:59.531223+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPNS2 as Amber List (moderate evidence)",
"entity_name": "SPNS2",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:31:59.518148+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spns2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPNS2",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:31:11.792630+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPNS2 was added\ngene: SPNS2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: SPNS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPNS2 were set to 30973865; 25356849\nPhenotypes for gene: SPNS2 were set to Deafness, autosomal recessive 115, MIM#\t618457\nReview for gene: SPNS2 was set to AMBER\nAdded comment: Single family reported, mouse model shows progressive hearing loss. \nSources: Expert list",
"entity_name": "SPNS2",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:23:19.784149+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ESRP1 as ready",
"entity_name": "ESRP1",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:23:19.772033+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: esrp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ESRP1",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:21:54.863976+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ESRP1 as Amber List (moderate evidence)",
"entity_name": "ESRP1",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:21:54.836225+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: esrp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ESRP1",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:21:36.764249+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ESRP1 was added\ngene: ESRP1 was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: ESRP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ESRP1 were set to 29107558\nPhenotypes for gene: ESRP1 were set to Deafness, autosomal recessive 109, MIM#\t618013\nReview for gene: ESRP1 was set to AMBER\nAdded comment: Single family with affected sibs, mouse model. \nSources: Expert list",
"entity_name": "ESRP1",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:18:14.812644+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ESRP1 as Amber List (moderate evidence)",
"entity_name": "ESRP1",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:18:14.801025+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: esrp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ESRP1",
"entity_type": "gene"
},
{
"created": "2020-01-02T09:17:45.280890+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ESRP1 was added\ngene: ESRP1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: ESRP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ESRP1 were set to 29107558\nPhenotypes for gene: ESRP1 were set to Deafness, autosomal recessive 109, MIM#\t618013\nReview for gene: ESRP1 was set to AMBER\nAdded comment: Single family reported with affected sibs, mouse model. \nSources: Expert list",
"entity_name": "ESRP1",
"entity_type": "gene"
},
{
"created": "2020-01-01T16:11:32.352734+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.524",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC26A5 as ready",
"entity_name": "SLC26A5",
"entity_type": "gene"
},
{
"created": "2020-01-01T16:11:32.341197+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.524",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc26a5 has been classified as Red List (Low Evidence).",
"entity_name": "SLC26A5",
"entity_type": "gene"
},
{
"created": "2020-01-01T16:11:15.971418+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.524",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC26A5 were changed from to Deafness, autosomal recessive 61, MIM# 613865",
"entity_name": "SLC26A5",
"entity_type": "gene"
},
{
"created": "2020-01-01T16:11:00.175697+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC26A5 were set to ",
"entity_name": "SLC26A5",
"entity_type": "gene"
},
{
"created": "2020-01-01T16:10:43.921059+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC26A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC26A5",
"entity_type": "gene"
},
{
"created": "2020-01-01T16:10:17.225247+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC26A5 as Red List (low evidence)",
"entity_name": "SLC26A5",
"entity_type": "gene"
},
{
"created": "2020-01-01T16:10:17.205136+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc26a5 has been classified as Red List (Low Evidence).",
"entity_name": "SLC26A5",
"entity_type": "gene"
},
{
"created": "2020-01-01T16:09:49.162459+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC26A5: Rating: RED; Mode of pathogenicity: None; Publications: 24164807; Phenotypes: Deafness, autosomal recessive 61, MIM# 613865; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC26A5",
"entity_type": "gene"
},
{
"created": "2020-01-01T16:08:20.138141+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A6 as ready",
"entity_name": "SLC25A6",
"entity_type": "gene"
},
{
"created": "2020-01-01T16:08:20.126889+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a6 has been classified as Red List (Low Evidence).",
"entity_name": "SLC25A6",
"entity_type": "gene"
},
{
"created": "2020-01-01T16:08:11.701749+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC25A6 was added\ngene: SLC25A6 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: SLC25A6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC25A6 were set to 24164807\nPhenotypes for gene: SLC25A6 were set to Deafness, autosomal recessive 61, MIM#\t613865\nReview for gene: SLC25A6 was set to RED\nAdded comment: Single family with compound het variants in this gene in a pair of sibs reported. Note an intronic variant in this gene previously implicated in deafness has been reclassified as likely benign due to high pop frequency (PMID:12719379). \nSources: Expert list",
"entity_name": "SLC25A6",
"entity_type": "gene"
},
{
"created": "2020-01-01T15:54:57.181246+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPIP5K2 as ready",
"entity_name": "PPIP5K2",
"entity_type": "gene"
},
{
"created": "2020-01-01T15:54:57.169914+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppip5k2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPIP5K2",
"entity_type": "gene"
},
{
"created": "2020-01-01T15:54:47.269940+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPIP5K2 as Amber List (moderate evidence)",
"entity_name": "PPIP5K2",
"entity_type": "gene"
},
{
"created": "2020-01-01T15:54:47.257705+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppip5k2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPIP5K2",
"entity_type": "gene"
},
{
"created": "2020-01-01T15:54:22.958747+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPIP5K2 was added\ngene: PPIP5K2 was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: PPIP5K2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPIP5K2 were set to 29590114\nPhenotypes for gene: PPIP5K2 were set to Deafness, autosomal recessive 100, MIM#\t618422\nReview for gene: PPIP5K2 was set to AMBER\nAdded comment: Two apparently unrelated families with multiple affecteds segregating a homozygous missense variant; mouse model. \nSources: Expert list",
"entity_name": "PPIP5K2",
"entity_type": "gene"
},
{
"created": "2020-01-01T15:52:14.641337+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPIP5K2 as ready",
"entity_name": "PPIP5K2",
"entity_type": "gene"
},
{
"created": "2020-01-01T15:52:14.629061+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppip5k2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPIP5K2",
"entity_type": "gene"
},
{
"created": "2020-01-01T15:52:01.440221+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPIP5K2 as Amber List (moderate evidence)",
"entity_name": "PPIP5K2",
"entity_type": "gene"
},
{
"created": "2020-01-01T15:52:01.426991+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppip5k2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPIP5K2",
"entity_type": "gene"
},
{
"created": "2020-01-01T15:51:32.140144+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPIP5K2 was added\ngene: PPIP5K2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: PPIP5K2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPIP5K2 were set to 29590114\nPhenotypes for gene: PPIP5K2 were set to Deafness, autosomal recessive 100, MIM#\t618422\nReview for gene: PPIP5K2 was set to AMBER\nAdded comment: Two apparently unrelated families with multiple affecteds segregating a homozygous missense variant; mouse model. \nSources: Expert list",
"entity_name": "PPIP5K2",
"entity_type": "gene"
},
{
"created": "2020-01-01T15:45:02.368476+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ROR1 as ready",
"entity_name": "ROR1",
"entity_type": "gene"
},
{
"created": "2020-01-01T15:45:02.355868+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ror1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ROR1",
"entity_type": "gene"
},
{
"created": "2020-01-01T15:44:54.168194+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ROR1 as Amber List (moderate evidence)",
"entity_name": "ROR1",
"entity_type": "gene"
},
{
"created": "2020-01-01T15:44:54.156417+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ror1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ROR1",
"entity_type": "gene"
},
{
"created": "2020-01-01T15:44:34.727896+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ROR1 was added\ngene: ROR1 was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: ROR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ROR1 were set to 27162350\nPhenotypes for gene: ROR1 were set to Deafness, autosomal recessive 108, MIM#\t617654\nReview for gene: ROR1 was set to AMBER\nAdded comment: Single family, sibs with homozygous missense variant; mouse model. \nSources: Expert list",
"entity_name": "ROR1",
"entity_type": "gene"
},
{
"created": "2020-01-01T15:42:07.169079+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ROR1 as ready",
"entity_name": "ROR1",
"entity_type": "gene"
},
{
"created": "2020-01-01T15:42:07.156582+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ror1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ROR1",
"entity_type": "gene"
},
{
"created": "2020-01-01T15:42:02.421482+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ROR1 as Amber List (moderate evidence)",
"entity_name": "ROR1",
"entity_type": "gene"
},
{
"created": "2020-01-01T15:42:02.409872+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ror1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ROR1",
"entity_type": "gene"
},
{
"created": "2020-01-01T15:41:30.457596+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ROR1 was added\ngene: ROR1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: ROR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ROR1 were set to 27162350\nPhenotypes for gene: ROR1 were set to Deafness, autosomal recessive 108, MIM#\t617654\nReview for gene: ROR1 was set to AMBER\nAdded comment: Single family, homozygous missense variant in sibs; mouse model. \nSources: Expert list",
"entity_name": "ROR1",
"entity_type": "gene"
},
{
"created": "2019-12-31T18:46:23.989911+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PUM1 as ready",
"entity_name": "PUM1",
"entity_type": "gene"
},
{
"created": "2019-12-31T18:46:23.977950+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pum1 has been classified as Green List (High Evidence).",
"entity_name": "PUM1",
"entity_type": "gene"
},
{
"created": "2019-12-31T18:45:50.866442+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PUM1 were changed from Spinocerebellar ataxia 47, MIM#617931 to Spinocerebellar ataxia 47, MIM#617931; intellectual disability; epilepsy",
"entity_name": "PUM1",
"entity_type": "gene"
},
{
"created": "2019-12-31T18:45:35.770456+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PUM1 were set to 29474920; 25768905",
"entity_name": "PUM1",
"entity_type": "gene"
},
{
"created": "2019-12-31T18:45:29.141133+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PUM1 as Green List (high evidence)",
"entity_name": "PUM1",
"entity_type": "gene"
},
{
"created": "2019-12-31T18:45:29.135423+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Another two families reported.",
"entity_name": "PUM1",
"entity_type": "gene"
},
{
"created": "2019-12-31T18:45:29.104048+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pum1 has been classified as Green List (High Evidence).",
"entity_name": "PUM1",
"entity_type": "gene"
},
{
"created": "2019-12-31T18:17:23.967764+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: S1PR2 as ready",
"entity_name": "S1PR2",
"entity_type": "gene"
},
{
"created": "2019-12-31T18:17:23.955835+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: s1pr2 has been classified as Green List (High Evidence).",
"entity_name": "S1PR2",
"entity_type": "gene"
},
{
"created": "2019-12-31T18:17:19.221368+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: S1PR2 as Green List (high evidence)",
"entity_name": "S1PR2",
"entity_type": "gene"
},
{
"created": "2019-12-31T18:17:19.208737+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: s1pr2 has been classified as Green List (High Evidence).",
"entity_name": "S1PR2",
"entity_type": "gene"
},
{
"created": "2019-12-31T18:16:44.201957+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: S1PR2 was added\ngene: S1PR2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: S1PR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: S1PR2 were set to 26805784; 29776397; 27383011\nPhenotypes for gene: S1PR2 were set to Deafness, autosomal recessive 68, MIM#\t610419\nReview for gene: S1PR2 was set to GREEN\nAdded comment: Three unrelated families and a mouse model. \nSources: Expert list",
"entity_name": "S1PR2",
"entity_type": "gene"
},
{
"created": "2019-12-31T18:11:48.764675+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RIPOR2 as ready",
"entity_name": "RIPOR2",
"entity_type": "gene"
},
{
"created": "2019-12-31T18:11:48.752709+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ripor2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RIPOR2",
"entity_type": "gene"
},
{
"created": "2019-12-31T18:11:40.613144+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RIPOR2 as Amber List (moderate evidence)",
"entity_name": "RIPOR2",
"entity_type": "gene"
},
{
"created": "2019-12-31T18:11:40.601041+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ripor2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RIPOR2",
"entity_type": "gene"
},
{
"created": "2019-12-31T18:11:23.154138+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RIPOR2 was added\ngene: RIPOR2 was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: RIPOR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RIPOR2 were set to 24958875\nPhenotypes for gene: RIPOR2 were set to Deafness, autosomal recessive 104, MIM# 616515\nReview for gene: RIPOR2 was set to AMBER\nAdded comment: Single family and animal model data. \nSources: Expert list",
"entity_name": "RIPOR2",
"entity_type": "gene"
},
{
"created": "2019-12-31T18:08:47.971339+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RIPOR2 as ready",
"entity_name": "RIPOR2",
"entity_type": "gene"
},
{
"created": "2019-12-31T18:08:47.959991+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ripor2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RIPOR2",
"entity_type": "gene"
},
{
"created": "2019-12-31T18:08:43.886226+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RIPOR2 as Amber List (moderate evidence)",
"entity_name": "RIPOR2",
"entity_type": "gene"
},
{
"created": "2019-12-31T18:08:43.874597+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ripor2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RIPOR2",
"entity_type": "gene"
},
{
"created": "2019-12-31T18:08:13.373795+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RIPOR2 was added\ngene: RIPOR2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: RIPOR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RIPOR2 were set to 24958875\nPhenotypes for gene: RIPOR2 were set to Deafness, autosomal recessive 104, MIM#\t616515\nReview for gene: RIPOR2 was set to AMBER\nAdded comment: Single family and animal model data. \nSources: Expert list",
"entity_name": "RIPOR2",
"entity_type": "gene"
},
{
"created": "2019-12-31T18:05:31.082517+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NARS2 as ready",
"entity_name": "NARS2",
"entity_type": "gene"
},
{
"created": "2019-12-31T18:05:31.069975+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nars2 has been classified as Green List (High Evidence).",
"entity_name": "NARS2",
"entity_type": "gene"
},
{
"created": "2019-12-31T18:05:27.087987+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NARS2 as Green List (high evidence)",
"entity_name": "NARS2",
"entity_type": "gene"
},
{
"created": "2019-12-31T18:05:27.077119+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nars2 has been classified as Green List (High Evidence).",
"entity_name": "NARS2",
"entity_type": "gene"
},
{
"created": "2019-12-31T18:04:50.553497+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NARS2 was added\ngene: NARS2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: NARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NARS2 were set to 25807530; 28077841; 30327238; 25385316\nPhenotypes for gene: NARS2 were set to Deafness, autosomal recessive 94, MIM#\t618434; Combined oxidative phosphorylation deficiency 24, MIM#616239\nReview for gene: NARS2 was set to GREEN\nAdded comment: Only one family described with isolated deafness; however, deafness is also part of the phenotype of the multi-system mitochondrial disorder associated with this gene. \nSources: Expert list",
"entity_name": "NARS2",
"entity_type": "gene"
},
{
"created": "2019-12-31T18:00:28.342600+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIT as ready",
"entity_name": "KIT",
"entity_type": "gene"
},
{
"created": "2019-12-31T18:00:28.330396+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kit has been classified as Green List (High Evidence).",
"entity_name": "KIT",
"entity_type": "gene"
},
{
"created": "2019-12-31T18:00:25.079768+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIT as Green List (high evidence)",
"entity_name": "KIT",
"entity_type": "gene"
},
{
"created": "2019-12-31T18:00:25.067488+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kit has been classified as Green List (High Evidence).",
"entity_name": "KIT",
"entity_type": "gene"
},
{
"created": "2019-12-31T17:59:52.075707+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIT was added\ngene: KIT was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KIT were set to Piebaldism, MIM#\t172800\nReview for gene: KIT was set to GREEN\nAdded comment: Deafness described in a proportion of affected individuals. \nSources: Expert list",
"entity_name": "KIT",
"entity_type": "gene"
},
{
"created": "2019-12-31T17:56:51.939523+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HAAO as ready",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2019-12-31T17:56:51.926996+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: haao has been classified as Green List (High Evidence).",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2019-12-31T17:56:41.639320+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HAAO as Green List (high evidence)",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2019-12-31T17:56:41.628179+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: haao has been classified as Green List (High Evidence).",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2019-12-31T17:55:46.665111+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HAAO as ready",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2019-12-31T17:55:46.654294+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: haao has been classified as Amber List (Moderate Evidence).",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2019-12-31T17:55:37.208212+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HAAO as Amber List (moderate evidence)",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2019-12-31T17:55:37.195479+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: haao has been classified as Amber List (Moderate Evidence).",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2019-12-31T17:55:04.107026+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HAAO was added\ngene: HAAO was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HAAO were set to 28792876\nPhenotypes for gene: HAAO were set to Vertebral, cardiac, renal, and limb defects syndrome 1, MIM#\t617660\nReview for gene: HAAO was set to AMBER\nAdded comment: Two unrelated families described with bi-allelic variants in this gene and a multiple congenital anomalies disorder, including deafness. Functional data. \nSources: Expert list",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2019-12-31T17:12:25.381421+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PROC as ready",
"entity_name": "PROC",
"entity_type": "gene"
},
{
"created": "2019-12-31T17:12:25.370041+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: proc has been classified as Green List (High Evidence).",
"entity_name": "PROC",
"entity_type": "gene"
},
{
"created": "2019-12-31T17:12:10.632201+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PROC were set to ",
"entity_name": "PROC",
"entity_type": "gene"
},
{
"created": "2019-12-31T17:12:04.228131+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PROC were changed from to Thrombophilia due to protein C deficiency, autosomal dominant (176860); Thrombophilia due to protein C deficiency, autosomal recessive (612304)",
"entity_name": "PROC",
"entity_type": "gene"
},
{
"created": "2019-12-31T17:11:42.793887+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PROC was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "PROC",
"entity_type": "gene"
},
{
"created": "2019-12-31T17:06:59.522405+11:00",
"panel_name": "Ichthyosis_VCGS",
"panel_id": 124,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS33B as ready",
"entity_name": "VPS33B",
"entity_type": "gene"
}
]
}