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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1628",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1626",
"results": [
{
"created": "2020-08-31T16:06:02.406311+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP4M1 were set to ",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:05:35.355162+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AP4M1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2020-08-31T15:59:25.228306+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.171",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: BLM was added\ngene: BLM was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BLM were set to 30214071\nPhenotypes for gene: BLM were set to Bloom syndrome\t(MIM#210900)\nPenetrance for gene: BLM were set to unknown\nReview for gene: BLM was set to RED\nAdded comment: Microcephaly is a feature of Bloom Syndrome, however there is limited evidence for the association of microcephaly with BLM gene specifically.\r\n\r\nPMID: 30214071;\r\nin a cohort of microcephalic patients (<=-2SD), 1 family with 2 affecteds are homozygous for a nonsense variant \nSources: Literature",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2020-08-31T13:59:24.293003+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.171",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: ATRIP was added\ngene: ATRIP was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: ATRIP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATRIP were set to 23144622\nPhenotypes for gene: ATRIP were set to Seckel Syndrome\nPenetrance for gene: ATRIP were set to unknown\nReview for gene: ATRIP was set to RED\nAdded comment: PMID: 23144622;\r\n- 1x proband from a consanguineous family\r\n- progressive severe microcephaly (-9 to -10SD)\r\n- cHet for a nonsense and a splice \nSources: Literature",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2020-08-31T13:48:50.985636+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.171",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30690204, 31608932; Phenotypes: hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2020-08-31T13:17:03.902235+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.171",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: ARCN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27476655; Phenotypes: Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2020-08-31T12:15:28.001156+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.171",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: AP4S1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21620353, 25552650, 27444738; Phenotypes: Spastic paraplegia 52, autosomal recessive (MIM#614067); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2020-08-31T11:53:29.835368+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.171",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: AP4M1: Changed publications: 28464862, 24700674",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2020-08-31T11:53:22.386132+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.171",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: PMID: 28464862;\r\n- 1x with severe progressive microcephaly (< - 4 SD)\r\n- homozygous nonsense\r\n\r\nPMID: 24700674;\r\n- 2x unrelated patients (1 and 3) < -3 SD head circumference\r\n- 2x homozygous nonsense \r\n\r\nPMID: 21620353 ;\r\n- 3 families with 4 affecteds ( < -3 SD)\r\n- all PTVs; to: PMID: 28464862;\r\n- 1x with severe progressive microcephaly (< - 4 SD)\r\n- homozygous nonsense\r\n\r\nPMID: 24700674;\r\n- 2x unrelated patients (1 and 3) < -3 SD head circumference\r\n- 2x homozygous nonsense ",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2020-08-31T11:49:24.978638+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.171",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28464862, 24700674, 21620353; Phenotypes: Spastic paraplegia 50, autosomal recessive (MIM#612936); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2020-08-31T10:28:05.216286+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Activating variants in AKT2 and micro duplications are associated with macrocephaly/megalencephaly. Note that deletions involving AKT3 have consistently been associated with microcephaly. However, most involve at least one other gene apart from AKT3. One family reported with only AKT3 deleted: deletion was inherited from a phenotypically normal parent, suggesting either additional effects in bigger deletions or incomplete penetrance.; to: Activating variants in AKT3 and micro duplications are associated with macrocephaly/megalencephaly. Note that deletions involving AKT3 have consistently been associated with microcephaly. However, most involve at least one other gene apart from AKT3. One family reported with only AKT3 deleted: deletion was inherited from a phenotypically normal parent, suggesting either additional effects in bigger deletions or incomplete penetrance.",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2020-08-31T10:22:56.991439+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AKT3 as ready",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2020-08-31T10:22:56.980729+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: akt3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2020-08-31T10:22:54.276815+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AKT3 were changed from to Microcephaly",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2020-08-31T10:22:36.984703+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AKT3 were set to ",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2020-08-31T10:21:30.503975+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AKT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2020-08-31T10:19:47.932479+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AKT3 as Amber List (moderate evidence)",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2020-08-31T10:19:47.920497+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: akt3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2020-08-31T10:19:18.933180+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: AKT3.",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2020-08-31T10:19:09.950806+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AKT3: Rating: AMBER; Mode of pathogenicity: None; Publications: 32827175, 31929334, 30853971, 30053339, 25424989; Phenotypes: Microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:59:47.114253+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP4E1 as ready",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:59:47.103815+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4e1 has been classified as Green List (High Evidence).",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:59:43.989058+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP4E1 were changed from to Spastic paraplegia 51, autosomal recessive, MIM# 613744",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:59:19.850024+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP4E1 were set to ",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:58:49.503436+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AP4E1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:58:23.408720+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP4E1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20972249, 21620353, 21937992; Phenotypes: Spastic paraplegia 51, autosomal recessive, MIM# 613744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:57:43.354592+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP4E1 as ready",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:57:43.345839+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4e1 has been classified as Green List (High Evidence).",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:57:36.205629+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP4E1 were changed from to Spastic paraplegia 51, autosomal recessive, MIM# 613744",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:57:10.546373+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP4E1 were set to ",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:56:42.762705+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AP4E1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:56:20.670678+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP4E1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20972249, 21620353, 21937992; Phenotypes: Spastic paraplegia 51, autosomal recessive, MIM# 613744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:55:51.233315+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP4E1 as ready",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:55:51.222909+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4e1 has been classified as Green List (High Evidence).",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:55:44.969991+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP4E1 were changed from to Spastic paraplegia 51, autosomal recessive, MIM# 613744",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:55:27.917662+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4033",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP4E1 were set to ",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:55:12.855470+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AP4E1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:54:56.099164+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP4E1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20972249, 21620353, 21937992; Phenotypes: Spastic paraplegia 51, autosomal recessive, MIM# 613744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:53:55.781542+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP4E1 as ready",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:53:55.770857+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4e1 has been classified as Green List (High Evidence).",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:53:52.258379+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP4E1 were changed from to Spastic paraplegia 51, autosomal recessive, MIM# 613744",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:53:08.519908+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP4E1 were set to ",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:52:46.128953+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AP4E1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:52:18.793677+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP4E1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20972249, 21620353, 21937992; Phenotypes: Spastic paraplegia 51, autosomal recessive, MIM# 613744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4E1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:49:27.384829+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP4B1 as ready",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:49:27.376513+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4b1 has been classified as Green List (High Evidence).",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:49:25.267526+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP4B1 were changed from to Spastic paraplegia 47, autosomal recessive, MIM# 614066",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:49:00.586671+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP4B1 were set to ",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:48:40.407571+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AP4B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:48:17.868989+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620353, 22290197, 24700674, 24781758; Phenotypes: Spastic paraplegia 47, autosomal recessive, MIM# 614066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:47:31.741446+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP4B1 as ready",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:47:31.731579+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4b1 has been classified as Green List (High Evidence).",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:47:26.224683+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP4B1 were changed from to Spastic paraplegia 47, autosomal recessive, MIM# 614066",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:47:11.244824+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4030",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP4B1 were set to ",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:46:56.388538+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AP4B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:46:39.344022+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620353, 22290197, 24700674, 24781758; Phenotypes: Spastic paraplegia 47, autosomal recessive, MIM# 614066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:44:37.162872+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP4B1 as ready",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:44:37.152232+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4b1 has been classified as Green List (High Evidence).",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:44:10.290274+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP4B1 were changed from to Spastic paraplegia 47, autosomal recessive, MIM# 614066",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:43:48.524877+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP4B1 were set to ",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:43:23.081909+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AP4B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:42:50.881329+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21620353, 22290197, 24700674, 24781758; Phenotypes: Spastic paraplegia 47, autosomal recessive, MIM# 614066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:39:57.272447+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANKLE2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25259927, 30214071, 31735666; Phenotypes: Microcephaly 16, primary, autosomal recessive, MIM# 616681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ANKLE2",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:39:49.040702+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANKLE2 as ready",
"entity_name": "ANKLE2",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:39:49.030322+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ankle2 has been classified as Green List (High Evidence).",
"entity_name": "ANKLE2",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:39:37.222134+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANKLE2 were changed from to Microcephaly 16, primary, autosomal recessive, MIM# 616681",
"entity_name": "ANKLE2",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:39:16.798787+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANKLE2 were set to ",
"entity_name": "ANKLE2",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:38:50.493069+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANKLE2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ANKLE2",
"entity_type": "gene"
},
{
"created": "2020-08-30T15:36:55.609089+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANKLE2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25259927, 30214071, 31735666; Phenotypes: Microcephaly 16, primary, autosomal recessive, MIM# 616681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ANKLE2",
"entity_type": "gene"
},
{
"created": "2020-08-29T21:56:44.392389+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSEN2 as ready",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2020-08-29T21:56:44.381609+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsen2 has been classified as Green List (High Evidence).",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2020-08-29T21:55:43.091647+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSEN2 as ready",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2020-08-29T21:55:43.081944+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsen2 has been classified as Green List (High Evidence).",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2020-08-29T21:55:39.846671+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSEN2 were changed from to Pontocerebellar hypoplasia type 2B, MIM# 612389",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2020-08-29T21:55:13.140562+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSEN2 were set to ",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2020-08-29T21:54:46.736717+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSEN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2020-08-29T21:54:22.842815+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TSEN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23562994, 20952379; Phenotypes: Pontocerebellar hypoplasia type 2B, MIM# 612389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2020-08-29T21:53:14.521187+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSEN2 were changed from to Pontocerebellar hypoplasia type 2B, MIM# 612389",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2020-08-29T21:52:54.453043+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4027",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSEN2 were set to ",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2020-08-29T21:52:43.273961+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4026",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSEN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2020-08-29T21:52:23.482554+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TSEN2: Added comment: At least 3 unrelated families reported.; Changed rating: GREEN; Changed publications: 23562994, 20952379; Changed phenotypes: Pontocerebellar hypoplasia type 2B, MIM# 612389",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2020-08-29T21:49:53.275750+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2020-08-29T18:36:15.535723+10:00",
"panel_name": "Frontonasal dysplasia",
"panel_id": 104,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZSWIM6 as ready",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2020-08-29T18:36:15.527154+10:00",
"panel_name": "Frontonasal dysplasia",
"panel_id": 104,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zswim6 has been classified as Green List (High Evidence).",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2020-08-29T18:34:51.526865+10:00",
"panel_name": "Frontonasal dysplasia",
"panel_id": 104,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZSWIM6 were changed from to Acromelic frontonasal dysostosis, MIM# 603671",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2020-08-29T18:34:30.959828+10:00",
"panel_name": "Frontonasal dysplasia",
"panel_id": 104,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZSWIM6 were set to ",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2020-08-29T18:34:05.852801+10:00",
"panel_name": "Frontonasal dysplasia",
"panel_id": 104,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZSWIM6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2020-08-29T18:33:38.493384+10:00",
"panel_name": "Frontonasal dysplasia",
"panel_id": 104,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZSWIM6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25105228, 26706854; Phenotypes: Acromelic frontonasal dysostosis, MIM# 603671; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2020-08-29T18:32:33.477378+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZSWIM6 as ready",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2020-08-29T18:32:33.469418+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zswim6 has been classified as Green List (High Evidence).",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2020-08-29T18:32:26.811162+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZSWIM6 were changed from to Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM# 617865; Acromelic frontonasal dysostosis, MIM# 603671",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2020-08-29T18:32:11.152582+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4024",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZSWIM6 were set to ",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2020-08-29T18:31:57.555803+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZSWIM6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2020-08-29T18:31:38.135555+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4022",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZSWIM6: Rating: GREEN; Mode of pathogenicity: None; Publications: 29198722, 25105228, 26706854; Phenotypes: Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM# 617865, Acromelic frontonasal dysostosis, MIM# 603671; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2020-08-29T18:25:42.260160+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCB11 were set to 23141890",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2020-08-29T18:25:07.956653+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 16871584, 23141890, 9806540, 15300568, 11172067; Phenotypes: Cholestasis, progressive familial intrahepatic 2, MIM# 601847, Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2020-08-29T18:23:58.023593+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4022",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCB11 as ready",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2020-08-29T18:23:58.013140+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4022",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcb11 has been classified as Green List (High Evidence).",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2020-08-29T18:23:44.622682+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4022",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCB11 were changed from to Cholestasis, progressive familial intrahepatic 2, MIM# 601847; Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2020-08-29T18:23:28.469409+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4021",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCB11 were set to ",
"entity_name": "ABCB11",
"entity_type": "gene"
}
]
}