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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1772",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1770",
"results": [
{
"created": "2020-06-11T06:57:07.838561+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIMS2 as ready",
"entity_name": "LIMS2",
"entity_type": "gene"
},
{
"created": "2020-06-11T06:57:07.826673+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lims2 has been classified as Red List (Low Evidence).",
"entity_name": "LIMS2",
"entity_type": "gene"
},
{
"created": "2020-06-11T06:56:56.049434+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIMS2 was added\ngene: LIMS2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: LIMS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LIMS2 were set to 25589244; 16317048\nPhenotypes for gene: LIMS2 were set to Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue MIM#616827\nReview for gene: LIMS2 was set to RED\nAdded comment: Only one family reported and Pinch2 -/- mice were viable and fertile with no apparent phenotype. \nSources: Expert list",
"entity_name": "LIMS2",
"entity_type": "gene"
},
{
"created": "2020-06-10T09:53:06.148679+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3049",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: FAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22772369; Phenotypes: Interstitial nephritis, karyomegalic 614817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FAN1",
"entity_type": "gene"
},
{
"created": "2020-06-10T08:47:12.119195+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3049",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: RAD21: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31334757, 25575569, 32193685; Phenotypes: ?Mungan syndrome, 611376, Cornelia de Lange syndrome 4, 614701, Holoprocencephaly; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2020-06-09T21:00:48.392149+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAD21 as ready",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2020-06-09T21:00:48.380053+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rad21 has been classified as Green List (High Evidence).",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2020-06-09T21:00:43.895791+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAD21 as Green List (high evidence)",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2020-06-09T21:00:43.887050+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rad21 has been classified as Green List (High Evidence).",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2020-06-09T21:00:13.957836+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAD21 was added\ngene: RAD21 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature\nMode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAD21 were set to 31334757\nPhenotypes for gene: RAD21 were set to Holoprosencephaly; Septo-optic dysplasia\nReview for gene: RAD21 was set to GREEN\nAdded comment: Three individuals reported with variants in this gene and HPE phenotype. Note paper reports variants in other cohesinopathy genes also. \nSources: Literature",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2020-06-09T20:54:06.855822+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSMB1 as ready",
"entity_name": "PSMB1",
"entity_type": "gene"
},
{
"created": "2020-06-09T20:54:06.846725+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PSMB1",
"entity_type": "gene"
},
{
"created": "2020-06-09T20:53:57.954905+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PSMB1 as Amber List (moderate evidence)",
"entity_name": "PSMB1",
"entity_type": "gene"
},
{
"created": "2020-06-09T20:53:57.942415+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PSMB1",
"entity_type": "gene"
},
{
"created": "2020-06-09T20:53:38.466483+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3048",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSMB1 was added\ngene: PSMB1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PSMB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSMB1 were set to 32129449\nPhenotypes for gene: PSMB1 were set to Intellectual disability; microcephaly\nReview for gene: PSMB1 was set to AMBER\nAdded comment: Two siblings reported with a homozygous missense variant in this gene; supportive experimental evidence including zebrafish model. \nSources: Literature",
"entity_name": "PSMB1",
"entity_type": "gene"
},
{
"created": "2020-06-09T20:52:31.545208+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSMB1 as ready",
"entity_name": "PSMB1",
"entity_type": "gene"
},
{
"created": "2020-06-09T20:52:31.532906+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PSMB1",
"entity_type": "gene"
},
{
"created": "2020-06-09T20:52:17.828989+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PSMB1 as Amber List (moderate evidence)",
"entity_name": "PSMB1",
"entity_type": "gene"
},
{
"created": "2020-06-09T20:52:17.820183+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PSMB1",
"entity_type": "gene"
},
{
"created": "2020-06-09T20:51:26.532338+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSMB1 was added\ngene: PSMB1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PSMB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSMB1 were set to 32129449\nPhenotypes for gene: PSMB1 were set to Intellectual disability; microcephaly\nReview for gene: PSMB1 was set to AMBER\nAdded comment: Two siblings reported with a homozygous missense variant in this gene; supportive experimental evidence including zebrafish model. \nSources: Literature",
"entity_name": "PSMB1",
"entity_type": "gene"
},
{
"created": "2020-06-09T20:43:30.382061+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3047",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC12A6 as ready",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2020-06-09T20:43:30.369946+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3047",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc12a6 has been classified as Green List (High Evidence).",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2020-06-09T20:43:03.642133+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3047",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC12A6 were changed from to Andermann syndrome; Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; Intermediate CMT",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2020-06-09T20:42:41.889457+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3046",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC12A6 were set to ",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2020-06-09T20:42:18.388838+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3045",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC12A6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2020-06-09T20:41:55.383398+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3044",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31439721; Phenotypes: Andermann syndrome, Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum, Intermediate CMT; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2020-06-09T20:40:21.749770+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC12A6 as ready",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2020-06-09T20:40:21.737567+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc12a6 has been classified as Green List (High Evidence).",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2020-06-09T20:40:18.006893+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC12A6 were changed from Andermann syndrome; Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; HMSN to Andermann syndrome; Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; Intermediate CMT",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2020-06-09T20:39:52.119047+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC12A6 were set to ",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2020-06-09T20:39:42.892427+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC12A6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2020-06-09T20:39:31.010419+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31439721; Phenotypes: Agenesis of the corpus callosum with peripheral neuropathy, MM# 218000, Intermediate CMT; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2020-06-09T20:15:47.422056+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C16orf62 as ready",
"entity_name": "C16orf62",
"entity_type": "gene"
},
{
"created": "2020-06-09T20:15:47.409845+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c16orf62 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C16orf62",
"entity_type": "gene"
},
{
"created": "2020-06-09T20:15:43.063839+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C16orf62 as Amber List (moderate evidence)",
"entity_name": "C16orf62",
"entity_type": "gene"
},
{
"created": "2020-06-09T20:15:43.051392+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c16orf62 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C16orf62",
"entity_type": "gene"
},
{
"created": "2020-06-09T20:15:12.736588+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: HGNC approved name: VPS35L. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 25434475). \nSources: Expert list; to: HGNC approved name: VPS35L. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 25434475;31712251). \r\nSources: Expert list",
"entity_name": "C16orf62",
"entity_type": "gene"
},
{
"created": "2020-06-09T20:15:04.093002+10:00",
"panel_name": "Anophthalmia_Microphthalmia_Coloboma",
"panel_id": 42,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C16orf62 was added\ngene: C16orf62 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature\nMode of inheritance for gene: C16orf62 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C16orf62 were set to 25434475; 31712251\nPhenotypes for gene: C16orf62 were set to 3C/Ritscher-Schinzel-like syndrome\nReview for gene: C16orf62 was set to AMBER\nAdded comment: HGNC approved name: VPS35L. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 25434475;31712251). \nSources: Literature",
"entity_name": "C16orf62",
"entity_type": "gene"
},
{
"created": "2020-06-09T20:14:52.320791+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3044",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: HGNC approved name: VPS35L. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 25434475). \nSources: Expert list; to: HGNC approved name: VPS35L. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 25434475;31712251). \r\nSources: Expert list",
"entity_name": "C16orf62",
"entity_type": "gene"
},
{
"created": "2020-06-09T20:12:12.625062+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3044",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: C16orf62: Changed publications: 25434475, 31712251",
"entity_name": "C16orf62",
"entity_type": "gene"
},
{
"created": "2020-06-09T20:11:48.087559+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C16orf62 were set to 25434475; 31712251",
"entity_name": "C16orf62",
"entity_type": "gene"
},
{
"created": "2020-06-09T20:11:21.145806+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C16orf62 were set to 25434475",
"entity_name": "C16orf62",
"entity_type": "gene"
},
{
"created": "2020-06-09T20:10:44.405635+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: C16orf62: Changed publications: 25434475, 31712251",
"entity_name": "C16orf62",
"entity_type": "gene"
},
{
"created": "2020-06-09T13:15:11.973498+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3044",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: EWSR1 as ready",
"entity_name": "EWSR1",
"entity_type": "gene"
},
{
"created": "2020-06-09T13:15:11.961305+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3044",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ewsr1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EWSR1",
"entity_type": "gene"
},
{
"created": "2020-06-09T13:11:16.409516+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3044",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: EWSR1 were changed from to Amyotrophic lateral sclerosis",
"entity_name": "EWSR1",
"entity_type": "gene"
},
{
"created": "2020-06-09T13:09:09.484046+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3043",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: EWSR1 were set to ",
"entity_name": "EWSR1",
"entity_type": "gene"
},
{
"created": "2020-06-09T13:07:53.457040+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3042",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: EWSR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EWSR1",
"entity_type": "gene"
},
{
"created": "2020-06-09T13:07:31.720621+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3041",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: EWSR1 as Amber List (moderate evidence)",
"entity_name": "EWSR1",
"entity_type": "gene"
},
{
"created": "2020-06-09T13:07:31.707529+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3041",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ewsr1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EWSR1",
"entity_type": "gene"
},
{
"created": "2020-06-09T13:07:07.982138+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3040",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: EWSR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29731676, 22454397; Phenotypes: Amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EWSR1",
"entity_type": "gene"
},
{
"created": "2020-06-09T10:28:11.395387+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.39",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Publications for gene: FGF10 were set to ",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2020-06-09T10:28:00.052098+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.38",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: FGF10 as ready",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2020-06-09T10:28:00.028911+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.38",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: fgf10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2020-06-09T10:27:42.993840+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.38",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: FGF10 as Amber List (moderate evidence)",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2020-06-09T10:27:42.989685+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.38",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Two unrelated individuals in large craniosynostosis cohort with pathogenic variants in FGF10.",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2020-06-09T10:27:42.958748+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "0.38",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: fgf10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2020-06-09T10:20:22.181572+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3040",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRPM7 as ready",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2020-06-09T10:20:22.169400+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3040",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpm7 has been classified as Red List (Low Evidence).",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2020-06-09T10:20:13.452982+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3040",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRPM7 were changed from to {Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, MIM# 105500",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2020-06-09T10:19:53.163880+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRPM7 as Red List (low evidence)",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2020-06-09T10:19:53.096232+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpm7 has been classified as Red List (Low Evidence).",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2020-06-09T10:19:29.092183+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRPM7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, MIM# 105500; Mode of inheritance: None",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2020-06-08T08:50:10.748682+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: C16orf62.",
"entity_name": "C16orf62",
"entity_type": "gene"
},
{
"created": "2020-06-08T08:49:44.025135+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: C16orf62.",
"entity_name": "C16orf62",
"entity_type": "gene"
},
{
"created": "2020-06-07T18:30:45.460601+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.719",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMC1A as ready",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2020-06-07T18:30:45.447655+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.719",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smc1a has been classified as Green List (High Evidence).",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2020-06-07T18:30:42.232318+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.719",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMC1A were changed from to Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2020-06-07T18:30:18.377460+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMC1A were set to ",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2020-06-07T18:29:53.783333+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.717",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMC1A was changed from Unknown to Other",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2020-06-07T18:29:23.712463+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMC1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31334757, 28166369; Phenotypes: Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044; Mode of inheritance: Other",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2020-06-07T18:29:12.756034+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMC1A as ready",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2020-06-07T18:29:12.747461+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smc1a has been classified as Green List (High Evidence).",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2020-06-07T18:29:01.572351+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMC1A as Green List (high evidence)",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2020-06-07T18:29:01.563443+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smc1a has been classified as Green List (High Evidence).",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2020-06-07T18:28:19.858467+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMC1A was added\ngene: SMC1A was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature\nMode of inheritance for gene: SMC1A was set to Other\nPublications for gene: SMC1A were set to 31334757; 28166369\nPhenotypes for gene: SMC1A were set to Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM#\t301044\nReview for gene: SMC1A was set to GREEN\nAdded comment: Multiple females reported with EE/HPE and LOF variants in this gene. Note gene also causes CdL. \nSources: Literature",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2020-06-07T18:25:16.145763+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STAG2 as ready",
"entity_name": "STAG2",
"entity_type": "gene"
},
{
"created": "2020-06-07T18:25:16.136998+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stag2 has been classified as Green List (High Evidence).",
"entity_name": "STAG2",
"entity_type": "gene"
},
{
"created": "2020-06-07T18:25:12.557818+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STAG2 were changed from Holoprosencephaly to Holoprosencephaly 13, X-linked, MIM#\t301043",
"entity_name": "STAG2",
"entity_type": "gene"
},
{
"created": "2020-06-07T18:24:15.061069+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STAG2 as Green List (high evidence)",
"entity_name": "STAG2",
"entity_type": "gene"
},
{
"created": "2020-06-07T18:24:15.050025+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stag2 has been classified as Green List (High Evidence).",
"entity_name": "STAG2",
"entity_type": "gene"
},
{
"created": "2020-06-07T18:23:46.951628+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STAG2 was added\ngene: STAG2 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature\nMode of inheritance for gene: STAG2 was set to Other\nPublications for gene: STAG2 were set to 31334757\nPhenotypes for gene: STAG2 were set to Holoprosencephaly\nReview for gene: STAG2 was set to GREEN\nAdded comment: Six females reported with LoF variants in this gene and HPE spectrum disorders. \nSources: Literature",
"entity_name": "STAG2",
"entity_type": "gene"
},
{
"created": "2020-06-07T18:18:31.299847+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C16orf62 as ready",
"entity_name": "C16orf62",
"entity_type": "gene"
},
{
"created": "2020-06-07T18:18:31.287823+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c16orf62 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C16orf62",
"entity_type": "gene"
},
{
"created": "2020-06-07T18:18:21.146443+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C16orf62 as Amber List (moderate evidence)",
"entity_name": "C16orf62",
"entity_type": "gene"
},
{
"created": "2020-06-07T18:18:21.134115+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c16orf62 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C16orf62",
"entity_type": "gene"
},
{
"created": "2020-06-07T18:17:59.999373+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C16orf62 was added\ngene: C16orf62 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: C16orf62 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C16orf62 were set to 25434475\nPhenotypes for gene: C16orf62 were set to 3C/Ritscher-Schinzel-like syndrome\nReview for gene: C16orf62 was set to AMBER\nAdded comment: HGNC approved name: VPS35L. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 25434475). \nSources: Expert list",
"entity_name": "C16orf62",
"entity_type": "gene"
},
{
"created": "2020-06-07T18:16:15.909684+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C16orf62 as ready",
"entity_name": "C16orf62",
"entity_type": "gene"
},
{
"created": "2020-06-07T18:16:15.896309+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c16orf62 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C16orf62",
"entity_type": "gene"
},
{
"created": "2020-06-07T18:16:07.971493+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C16orf62 as Amber List (moderate evidence)",
"entity_name": "C16orf62",
"entity_type": "gene"
},
{
"created": "2020-06-07T18:16:07.962723+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c16orf62 has been classified as Amber List (Moderate Evidence).",
"entity_name": "C16orf62",
"entity_type": "gene"
},
{
"created": "2020-06-07T18:15:32.243456+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C16orf62 was added\ngene: C16orf62 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: C16orf62 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C16orf62 were set to 25434475\nPhenotypes for gene: C16orf62 were set to 3C/Ritscher-Schinzel-like syndrome\nReview for gene: C16orf62 was set to AMBER\nAdded comment: HGNC approved name: VPS35L. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 25434475). \nSources: Expert list",
"entity_name": "C16orf62",
"entity_type": "gene"
},
{
"created": "2020-06-05T15:56:43.922752+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RHOBTB2 as ready",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2020-06-05T15:56:43.914097+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rhobtb2 has been classified as Green List (High Evidence).",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2020-06-05T15:56:33.996995+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RHOBTB2 were changed from to Epileptic encephalopathy, early infantile, 64, MIM#618004",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2020-06-05T15:56:09.102920+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RHOBTB2 were set to ",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2020-06-05T15:55:49.761153+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: RHOBTB2 was changed from to Other",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2020-06-05T15:55:17.073721+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3033",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RHOBTB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2020-06-05T14:44:08.429738+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3032",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: RHOBTB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:29276004, 29768694; Phenotypes: Epileptic encephalopathy, early infantile, 64, 618004; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "RHOBTB2",
"entity_type": "gene"
},
{
"created": "2020-06-05T09:59:05.876178+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP1CB as ready",
"entity_name": "PPP1CB",
"entity_type": "gene"
}
]
}