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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1330",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1328",
"results": [
{
"created": "2021-05-07T11:29:02.768887+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEPRO as ready",
"entity_name": "NEPRO",
"entity_type": "gene"
},
{
"created": "2021-05-07T11:29:02.758717+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nepro has been classified as Amber List (Moderate Evidence).",
"entity_name": "NEPRO",
"entity_type": "gene"
},
{
"created": "2021-05-07T11:28:43.361881+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NEPRO as Amber List (moderate evidence)",
"entity_name": "NEPRO",
"entity_type": "gene"
},
{
"created": "2021-05-07T11:28:43.351397+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nepro has been classified as Amber List (Moderate Evidence).",
"entity_name": "NEPRO",
"entity_type": "gene"
},
{
"created": "2021-05-07T09:31:14.413047+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LRSAM1: Rating: RED; Mode of pathogenicity: None; Publications: 20865121, 22012984, 22781092, 27686364, 33568173, 33414056, 30996334; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436, MONDO:0013753; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRSAM1",
"entity_type": "gene"
},
{
"created": "2021-05-07T09:30:06.337484+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRSAM1 as ready",
"entity_name": "LRSAM1",
"entity_type": "gene"
},
{
"created": "2021-05-07T09:30:06.327719+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrsam1 has been classified as Green List (High Evidence).",
"entity_name": "LRSAM1",
"entity_type": "gene"
},
{
"created": "2021-05-07T09:29:59.590953+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LRSAM1 were changed from to Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436; MONDO:0013753",
"entity_name": "LRSAM1",
"entity_type": "gene"
},
{
"created": "2021-05-07T09:29:43.285002+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LRSAM1 were set to ",
"entity_name": "LRSAM1",
"entity_type": "gene"
},
{
"created": "2021-05-07T09:29:26.113773+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LRSAM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LRSAM1",
"entity_type": "gene"
},
{
"created": "2021-05-07T09:29:08.451059+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LRSAM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20865121, 22012984, 22781092, 27686364, 33568173, 33414056, 30996334; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436, MONDO:0013753; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LRSAM1",
"entity_type": "gene"
},
{
"created": "2021-05-06T20:53:39.771329+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LITAF as ready",
"entity_name": "LITAF",
"entity_type": "gene"
},
{
"created": "2021-05-06T20:53:39.760071+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: litaf has been classified as Green List (High Evidence).",
"entity_name": "LITAF",
"entity_type": "gene"
},
{
"created": "2021-05-06T20:53:31.050905+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LITAF were changed from to Charcot-Marie-Tooth disease, type 1C, MIM# 601098; MONDO:0010995",
"entity_name": "LITAF",
"entity_type": "gene"
},
{
"created": "2021-05-06T20:53:11.996738+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LITAF were set to ",
"entity_name": "LITAF",
"entity_type": "gene"
},
{
"created": "2021-05-06T20:52:51.666587+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LITAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LITAF",
"entity_type": "gene"
},
{
"created": "2021-05-06T20:50:17.955571+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LITAF: Rating: GREEN; Mode of pathogenicity: None; Publications: 12525712, 19541485, 23359569, 32665875, 28211240; Phenotypes: Charcot-Marie-Tooth disease, type 1C, MIM# 601098, MONDO:0010995; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LITAF",
"entity_type": "gene"
},
{
"created": "2021-05-06T20:38:20.522940+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LSM7 as ready",
"entity_name": "LSM7",
"entity_type": "gene"
},
{
"created": "2021-05-06T20:38:20.511838+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lsm7 has been classified as Red List (Low Evidence).",
"entity_name": "LSM7",
"entity_type": "gene"
},
{
"created": "2021-05-06T20:38:12.839448+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LSM7 was added\ngene: LSM7 was added to Leukodystrophy - paediatric. Sources: Literature\nMode of inheritance for gene: LSM7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LSM7 were set to https://doi.org/10.1016/j.xhgg.2021.100034\nPhenotypes for gene: LSM7 were set to Leukodystrophy; fetal death\nReview for gene: LSM7 was set to RED\nAdded comment: Homozygous variant (p.Asp41Asn) identified in a child with leukodystrophy and a homozygous variant (p.Arg69Pro) identified in an individual that died in utero. In vitro and in vivo (zebrafish) assays supporting pathogenicity of the 2 variants. \nSources: Literature",
"entity_name": "LSM7",
"entity_type": "gene"
},
{
"created": "2021-05-06T20:34:21.646157+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC3A1 as ready",
"entity_name": "SLC3A1",
"entity_type": "gene"
},
{
"created": "2021-05-06T20:34:21.636365+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc3a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC3A1",
"entity_type": "gene"
},
{
"created": "2021-05-06T20:34:13.212656+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC3A1 were changed from to Cystinuria, MIM# 220100",
"entity_name": "SLC3A1",
"entity_type": "gene"
},
{
"created": "2021-05-06T20:33:55.990422+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC3A1 were set to ",
"entity_name": "SLC3A1",
"entity_type": "gene"
},
{
"created": "2021-05-06T20:33:30.902625+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC3A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC3A1",
"entity_type": "gene"
},
{
"created": "2021-05-06T20:33:10.537284+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystinuria, MIM# 220100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC3A1",
"entity_type": "gene"
},
{
"created": "2021-05-06T16:57:11.554857+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7512",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: LSM7 as ready",
"entity_name": "LSM7",
"entity_type": "gene"
},
{
"created": "2021-05-06T16:57:11.544539+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7512",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lsm7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LSM7",
"entity_type": "gene"
},
{
"created": "2021-05-06T16:56:33.046173+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3739",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PTPN4 as ready",
"entity_name": "PTPN4",
"entity_type": "gene"
},
{
"created": "2021-05-06T16:56:32.983272+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3739",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ptpn4 has been classified as Green List (High Evidence).",
"entity_name": "PTPN4",
"entity_type": "gene"
},
{
"created": "2021-05-06T16:56:14.619881+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7512",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: LSM7 as Amber List (moderate evidence)",
"entity_name": "LSM7",
"entity_type": "gene"
},
{
"created": "2021-05-06T16:56:14.608196+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7512",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lsm7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LSM7",
"entity_type": "gene"
},
{
"created": "2021-05-06T16:55:56.771790+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7511",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LSM7 was added\ngene: LSM7 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: LSM7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LSM7 were set to DOI:https://doi.org/10.1016/j.xhgg.2021.100034\nPhenotypes for gene: LSM7 were set to Leukodystrophy; foetal death\nReview for gene: LSM7 was set to AMBER\nAdded comment: Homozygous variant (p.Asp41Asn) identified in a child with leukodystrophy and a homozygous variant (p.Arg69Pro) identified in an individual that died in utero. In vitro and in vivo (zebrafish) assays supporting pathogenicity of the 2 variants. \nSources: Literature",
"entity_name": "LSM7",
"entity_type": "gene"
},
{
"created": "2021-05-06T16:50:02.681105+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3739",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PTPN4 as Green List (high evidence)",
"entity_name": "PTPN4",
"entity_type": "gene"
},
{
"created": "2021-05-06T16:50:02.670540+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3739",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ptpn4 has been classified as Green List (High Evidence).",
"entity_name": "PTPN4",
"entity_type": "gene"
},
{
"created": "2021-05-06T16:43:11.000772+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3738",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PTPN4 was added\ngene: PTPN4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PTPN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PTPN4 were set to 17953619; 25424712; 30238967; DOI: https://doi.org/10.1016/j.xhgg.2021.100033\nPhenotypes for gene: PTPN4 were set to Intellectual disability; developmental delay\nReview for gene: PTPN4 was set to GREEN\nAdded comment: >3 unrelated probands and supporting mouse model\r\nPMID: 17953619 - knockout mouse model has impaired motor learning and cerebellar synaptic plasticity\r\nPMID: 25424712 - twins with a de novo whole gene deletion and a Rett-like neurodevelopmental disorder\r\nPMID: 30238967 - mosaic de novo variant (p.Leu72Ser) identified in a child with developmental delay, autistic features, hypotonia, increased immunoglobulin E and dental problems. Also supporting mouse assays demonstrating loss of protein expression in dendritic spines\r\nDOI: https://doi.org/10.1016/j.xhgg.2021.100033 - missense and truncating variants in six unrelated individuals with varying degrees of intellectual disability or developmental delay. 5 were able to undergo segregation analysis and found to be de novo. \nSources: Literature",
"entity_name": "PTPN4",
"entity_type": "gene"
},
{
"created": "2021-05-06T16:41:42.544563+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7510",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PTPN4 as ready",
"entity_name": "PTPN4",
"entity_type": "gene"
},
{
"created": "2021-05-06T16:41:42.532045+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7510",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ptpn4 has been classified as Green List (High Evidence).",
"entity_name": "PTPN4",
"entity_type": "gene"
},
{
"created": "2021-05-06T16:39:15.882912+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7510",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PTPN4 as Green List (high evidence)",
"entity_name": "PTPN4",
"entity_type": "gene"
},
{
"created": "2021-05-06T16:39:15.874102+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7510",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ptpn4 has been classified as Green List (High Evidence).",
"entity_name": "PTPN4",
"entity_type": "gene"
},
{
"created": "2021-05-06T16:36:41.414400+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7509",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PTPN4 was added\ngene: PTPN4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PTPN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PTPN4 were set to 17953619; 25424712; 30238967; DOI: https://doi.org/10.1016/j.xhgg.2021.100033\nPhenotypes for gene: PTPN4 were set to Intellectual disability; developmental delay\nReview for gene: PTPN4 was set to GREEN\nAdded comment: >3 unrelated probands and supporting mouse model\r\nPMID: 17953619 - knockout mouse model has impaired motor learning and cerebellar synaptic plasticity\r\nPMID: 25424712 - twins with a de novo whole gene deletion and a Rett-like neurodevelopmental disorder\r\nPMID: 30238967 - mosaic de novo variant (p.Leu72Ser) identified in a child with developmental delay, autistic features, hypotonia, increased immunoglobulin E and dental problems. Also supporting mouse assays demonstrating loss of protein expression in dendritic spines\r\nDOI: https://doi.org/10.1016/j.xhgg.2021.100033 - missense and truncating variants in six unrelated individuals with varying degrees of intellectual disability or developmental delay. 5 were able to undergo segregation analysis and found to be de novo. \nSources: Literature",
"entity_name": "PTPN4",
"entity_type": "gene"
},
{
"created": "2021-05-06T14:28:59.168164+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7508",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: SLC3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25964309; Phenotypes: Cystinuria (MIM#220100) AD, AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC3A1",
"entity_type": "gene"
},
{
"created": "2021-05-06T13:47:45.665826+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WFS1 were set to 25211237",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2021-05-06T13:25:47.527774+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: POLR3K.",
"entity_name": "POLR3K",
"entity_type": "gene"
},
{
"created": "2021-05-06T13:25:31.329954+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: POLR3K.",
"entity_name": "POLR3K",
"entity_type": "gene"
},
{
"created": "2021-05-06T13:25:23.647129+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: POLR3K.",
"entity_name": "POLR3K",
"entity_type": "gene"
},
{
"created": "2021-05-06T12:06:42.232204+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR3K as ready",
"entity_name": "POLR3K",
"entity_type": "gene"
},
{
"created": "2021-05-06T12:06:42.221590+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr3k has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLR3K",
"entity_type": "gene"
},
{
"created": "2021-05-06T12:06:23.066830+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLR3K as Amber List (moderate evidence)",
"entity_name": "POLR3K",
"entity_type": "gene"
},
{
"created": "2021-05-06T12:06:23.057805+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr3k has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLR3K",
"entity_type": "gene"
},
{
"created": "2021-05-06T12:05:53.261402+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLR3K was added\ngene: POLR3K was added to Regression. Sources: Expert Review\nMode of inheritance for gene: POLR3K was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLR3K were set to 30584594; 33659930\nPhenotypes for gene: POLR3K were set to Hypomyelinating leukodystrophy-21, MIM#619310\nReview for gene: POLR3K was set to AMBER\nAdded comment: Two individuals from same ethnic background reported with a common homozygous missense variant in this gene, suggestive of founder effect. Some functional evidence, and note other gene family members are linked to similar phenotypes. Neurodegenerative phenotype: global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life. \nSources: Expert Review",
"entity_name": "POLR3K",
"entity_type": "gene"
},
{
"created": "2021-05-06T12:01:28.747376+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR3K as ready",
"entity_name": "POLR3K",
"entity_type": "gene"
},
{
"created": "2021-05-06T12:01:28.736725+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr3k has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLR3K",
"entity_type": "gene"
},
{
"created": "2021-05-06T12:01:19.358726+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLR3K as Amber List (moderate evidence)",
"entity_name": "POLR3K",
"entity_type": "gene"
},
{
"created": "2021-05-06T12:01:19.349483+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr3k has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLR3K",
"entity_type": "gene"
},
{
"created": "2021-05-06T11:58:24.584478+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLR3K was added\ngene: POLR3K was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: POLR3K was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLR3K were set to 30584594; 33659930\nPhenotypes for gene: POLR3K were set to Hypomyelinating leukodystrophy-21, MIM#619310\nReview for gene: POLR3K was set to AMBER\nAdded comment: Two individuals from same ethnic background reported with a common homozygous missense variant in this gene, suggestive of founder effect. Some functional evidence, and note other gene family members are linked to similar phenotypes. Neurodegenerative phenotype: global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life. \nSources: Expert Review",
"entity_name": "POLR3K",
"entity_type": "gene"
},
{
"created": "2021-05-06T11:56:57.897320+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR3K as ready",
"entity_name": "POLR3K",
"entity_type": "gene"
},
{
"created": "2021-05-06T11:56:57.884255+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr3k has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLR3K",
"entity_type": "gene"
},
{
"created": "2021-05-06T11:56:53.438119+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLR3K as Amber List (moderate evidence)",
"entity_name": "POLR3K",
"entity_type": "gene"
},
{
"created": "2021-05-06T11:56:53.428164+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr3k has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLR3K",
"entity_type": "gene"
},
{
"created": "2021-05-06T11:56:42.503412+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLR3K was added\ngene: POLR3K was added to Leukodystrophy - paediatric. Sources: Expert Review\nMode of inheritance for gene: POLR3K was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLR3K were set to 30584594; 33659930\nPhenotypes for gene: POLR3K were set to Hypomyelinating leukodystrophy-21, MIM#619310\nReview for gene: POLR3K was set to AMBER\nAdded comment: Two individuals from same ethnic background reported with a common homozygous missense variant in this gene, suggestive of founder effect. Some functional evidence, and note other gene family members are linked to similar phenotypes.\r\n\r\nNeurodegenerative phenotype: global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life. \nSources: Expert Review",
"entity_name": "POLR3K",
"entity_type": "gene"
},
{
"created": "2021-05-06T03:31:36.568486+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.65",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: SNCB: Rating: AMBER; Mode of pathogenicity: None; Publications: 33760043; Phenotypes: Dementia, Lewy body, OMIM:127750; Mode of inheritance: None",
"entity_name": "SNCB",
"entity_type": "gene"
},
{
"created": "2021-05-05T22:40:13.169938+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7505",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33693650; Phenotypes: Wolfram syndrome 1, OMIM:222300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:51:55.303671+10:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SAG as ready",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:51:55.283441+10:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sag has been classified as Green List (High Evidence).",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:51:43.900546+10:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SAG were changed from Oguchi Disease; Retinitis pigmentosa 47; Congenital Stationary Night Blindness to Oguchi disease-1, MIM# 258100",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:51:25.744387+10:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SAG were set to ",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:51:12.512643+10:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 7670478, 9565049, 15234147; Phenotypes: Oguchi disease-1, MIM# 258100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:50:13.134335+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SAG as ready",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:50:13.122182+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sag has been classified as Green List (High Evidence).",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:50:05.692345+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SAG were changed from to Oguchi disease-1, MIM# 258100; Retinitis pigmentosa 47, MIM# 613758",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:49:40.182202+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SAG were set to ",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:49:16.510513+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SAG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:48:56.955712+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 7670478, 9565049, 15234147, 28549094, 33047631; Phenotypes: Oguchi disease-1, MIM# 258100, Retinitis pigmentosa 47, MIM# 613758; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:46:11.358784+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SAG as ready",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:46:11.345167+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sag has been classified as Amber List (Moderate Evidence).",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:46:04.556169+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SAG were changed from Oguchi disease-1, 258100; Retinitis pigmentosa 47 to Retinitis pigmentosa 47, MIM# 613758",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:45:51.280170+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SAG were set to ",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:45:40.745181+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SAG as Amber List (moderate evidence)",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:45:40.735118+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sag has been classified as Amber List (Moderate Evidence).",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:45:33.046866+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: SAG.",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:45:24.368062+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SAG: Rating: AMBER; Mode of pathogenicity: None; Publications: 28549094, 33047631; Phenotypes: Retinitis pigmentosa 47, MIM# 613758; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:41:10.041609+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YWHAG as ready",
"entity_name": "YWHAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:41:09.999761+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ywhag has been classified as Green List (High Evidence).",
"entity_name": "YWHAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:40:51.097603+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: YWHAG were changed from to Developmental and epileptic encephalopathy 56, (MIMI#617665)",
"entity_name": "YWHAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:40:12.559225+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: YWHAG were set to ",
"entity_name": "YWHAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:39:50.599022+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: YWHAG was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "YWHAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:39:24.797783+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YWHAG as ready",
"entity_name": "YWHAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:39:24.786220+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ywhag has been classified as Green List (High Evidence).",
"entity_name": "YWHAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:39:20.371423+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: YWHAG were changed from to Developmental and epileptic encephalopathy 56, (MIMI#617665)",
"entity_name": "YWHAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:37:46.585268+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: YWHAG were set to 33393734; 33590706; 31926053; 33767733",
"entity_name": "YWHAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:37:25.515265+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: YWHAG were set to 33393734; 33590706; 31926053; 33767733",
"entity_name": "YWHAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:37:16.663591+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: YWHAG was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "YWHAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:37:04.005376+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: YWHAG were set to ",
"entity_name": "YWHAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:36:55.650435+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: YWHAG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "YWHAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:36:01.387592+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: YWHAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 33393734, 33590706, 31926053, 33767733; Phenotypes: Developmental and epileptic encephalopathy 56, (MIMI#617665); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "YWHAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:35:34.270568+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: YWHAG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "YWHAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:34:26.738238+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: YWHAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 33393734, 33590706, 31926053, 33767733; Phenotypes: Developmental and epileptic encephalopathy 56, (MIMI#617665); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "YWHAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:33:38.713789+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YWHAG as ready",
"entity_name": "YWHAG",
"entity_type": "gene"
},
{
"created": "2021-05-05T20:33:38.708951+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Developmental and epileptic encephalopathy-56 (DEE56) is a neurodevelopmental disorder characterized by early-onset seizures in most patients, followed by impaired intellectual development, variable behavioral abnormalities, and sometimes additional neurologic features, such as ataxia",
"entity_name": "YWHAG",
"entity_type": "gene"
}
]
}