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{
"count": 220828,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1608",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1606",
"results": [
{
"created": "2020-09-04T18:57:48.218194+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EIF2S3 were set to ",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2020-09-04T18:57:23.220181+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2956",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EIF2S3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2020-09-04T18:56:48.094508+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EIF2S3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23063529, 27333055, 28055140, 32799315; Phenotypes: MEHMO syndrome, MIM# 300148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2020-09-04T18:56:44.575756+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2S3 as ready",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2020-09-04T18:56:44.565170+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2s3 has been classified as Green List (High Evidence).",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2020-09-04T16:37:34.070489+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2S3 as ready",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2020-09-04T16:37:34.049305+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2s3 has been classified as Green List (High Evidence).",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2020-09-04T16:37:28.174836+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF2S3 were changed from to MEHMO syndrome, MIM# 300148",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2020-09-04T16:37:12.356946+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EIF2S3 were set to ",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2020-09-04T16:36:51.521881+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EIF2S3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2020-09-04T16:36:31.273350+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EIF2S3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23063529, 27333055, 28055140, 32799315; Phenotypes: MEHMO syndrome, MIM# 300148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2020-09-04T16:36:23.315070+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF2S3 were changed from to MEHMO syndrome, MIM# 300148",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2020-09-04T16:35:26.007924+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EIF2S3 were set to ",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2020-09-04T15:16:08.852398+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EIF2S3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2020-09-04T15:15:39.975808+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EIF2S3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23063529, 27333055, 28055140, 32799315; Phenotypes: MEHMO syndrome, MIM# 300148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2020-09-04T13:19:05.829785+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IDH3A were changed from Retinitis pigmentosa to Retinitis pigmentosa 90, MIM#619007",
"entity_name": "IDH3A",
"entity_type": "gene"
},
{
"created": "2020-09-04T13:18:36.484301+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IDH3A: Changed phenotypes: Retinitis pigmentosa 90, MIM#619007",
"entity_name": "IDH3A",
"entity_type": "gene"
},
{
"created": "2020-09-04T13:18:12.685613+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IDH3A were changed from Retinitis pigmentosa to Retinitis pigmentosa 90, MIM#619007",
"entity_name": "IDH3A",
"entity_type": "gene"
},
{
"created": "2020-09-04T13:17:52.716054+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IDH3A: Changed phenotypes: Retinitis pigmentosa 90, MIM#619007",
"entity_name": "IDH3A",
"entity_type": "gene"
},
{
"created": "2020-09-04T13:17:09.282666+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IDH3A as ready",
"entity_name": "IDH3A",
"entity_type": "gene"
},
{
"created": "2020-09-04T13:17:09.247585+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: idh3a has been classified as Green List (High Evidence).",
"entity_name": "IDH3A",
"entity_type": "gene"
},
{
"created": "2020-09-04T13:17:05.928986+10:00",
"panel_name": "Autosomal Recessive/X-Linked Retinitis Pigmentosa",
"panel_id": 277,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IDH3A were changed from Retinitis pigmentosa; Leber congenital amaurosis to Retinitis pigmentosa, MIM#619007; Leber congenital amaurosis",
"entity_name": "IDH3A",
"entity_type": "gene"
},
{
"created": "2020-09-04T13:16:22.491424+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETD1B were changed from SETD1B-related neurodevelopmental disorder to Intellectual developmental disorder with seizures and language delay (IDDSELD), MIM#619000",
"entity_name": "SETD1B",
"entity_type": "gene"
},
{
"created": "2020-09-04T13:15:48.416398+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETD1B were changed from Epilepsy with myoclonic absences; intellectual disability; SETD1B-related neurodevelopmental disorder to Epilepsy with myoclonic absences; intellectual disability; Intellectual developmental disorder with seizures and language delay (IDDSELD), MIM#619000",
"entity_name": "SETD1B",
"entity_type": "gene"
},
{
"created": "2020-09-04T13:14:54.667132+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETD1B were changed from Epilepsy with myoclonic absences; intellectual disability; SETD1B-related neurodevelopmental disorder to Epilepsy with myoclonic absences; intellectual disability; Intellectual developmental disorder with seizures and language delay (IDDSELD), MIM#619000",
"entity_name": "SETD1B",
"entity_type": "gene"
},
{
"created": "2020-09-04T13:08:30.310471+10:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD46 as ready",
"entity_name": "CD46",
"entity_type": "gene"
},
{
"created": "2020-09-04T13:08:30.299558+10:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd46 has been classified as Green List (High Evidence).",
"entity_name": "CD46",
"entity_type": "gene"
},
{
"created": "2020-09-04T13:03:56.390692+10:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD46 were changed from to {Susceptibility to atypical hemolytic uremic syndrome 2} (MIM#612922), AD, AR; Atypical hemolytic uremic syndrome 2",
"entity_name": "CD46",
"entity_type": "gene"
},
{
"created": "2020-09-04T13:03:33.987252+10:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CD46 were set to ",
"entity_name": "CD46",
"entity_type": "gene"
},
{
"created": "2020-09-04T13:03:14.552159+10:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CD46 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "CD46",
"entity_type": "gene"
},
{
"created": "2020-09-04T13:01:45.869998+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIP13 as ready",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-09-04T13:01:45.858158+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trip13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-09-04T13:01:43.346146+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIP13 were changed from to Mosaic variegated aneuploidy syndrome 3, MIM# 617598",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-09-04T13:01:19.997386+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRIP13 were set to ",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-09-04T13:00:58.676556+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRIP13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-09-04T13:00:34.171776+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRIP13 as Amber List (moderate evidence)",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-09-04T13:00:34.163411+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trip13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-09-04T13:00:10.948398+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRIP13: Rating: AMBER; Mode of pathogenicity: None; Publications: 28553959; Phenotypes: Mosaic variegated aneuploidy syndrome 3, MIM# 617598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:57:15.326856+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIP13 as ready",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:57:15.315343+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trip13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:57:12.715891+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIP13 were changed from to Mosaic variegated aneuploidy syndrome 3, MIM# 617598",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:56:56.562401+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRIP13 were set to ",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:56:28.271955+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: TRIP13.",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:56:20.956785+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: TRIP13.",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:56:10.540737+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRIP13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:56:03.857091+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Early-onset Wilms tumor and either aneuploidy or premature chromatid separation in cells. Some individuals described as having additional developmental features, such as microcephaly, growth retardation, or developmental delay but these are highly variable.; to: Early-onset Wilms tumor and either aneuploidy or premature chromatid separation in cells. Some individuals described as having additional developmental features, such as microcephaly, growth retardation, or developmental delay but these are highly variable. Also note 5/6 reported families had the same homozygous variant, p.Arg354X, suggestive of founder effect.",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:55:08.859388+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRIP13 as Amber List (moderate evidence)",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:55:08.850751+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trip13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:54:44.123141+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRIP13: Rating: AMBER; Mode of pathogenicity: None; Publications: 28553959; Phenotypes: Mosaic variegated aneuploidy syndrome 3, MIM# 617598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:48:35.689924+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAPPC6B as ready",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:48:35.678933+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc6b has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:48:31.725078+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAPPC6B were set to 28626029; 28397838; 31687267",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:47:51.729404+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.837",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAPPC6B were changed from Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862 to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:47:30.492248+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAPPC6B as ready",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:47:30.483614+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc6b has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:47:26.543393+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRAPPC6B as Green List (high evidence)",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:47:26.532860+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc6b has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:47:07.063099+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAPPC6B were changed from to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:46:46.467296+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAPPC6B were set to ",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:46:11.846263+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRAPPC6B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:46:00.787821+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRAPPC6B was added\ngene: TRAPPC6B was added to Regression. Sources: Expert Review\nMode of inheritance for gene: TRAPPC6B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAPPC6B were set to 28626029; 28397838; 31687267\nPhenotypes for gene: TRAPPC6B were set to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862\nReview for gene: TRAPPC6B was set to GREEN\nAdded comment: Five unrelated families reported with autosomal recessive neurodegenerative disorder characterised by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia. \nSources: Expert Review",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:45:31.156915+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRAPPC6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28626029, 28397838, 31687267; Phenotypes: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:44:07.726733+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAPPC6B as ready",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:44:07.699713+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc6b has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:44:03.791565+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAPPC6B were changed from to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:43:40.086649+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAPPC6B were set to ",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:43:15.635129+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRAPPC6B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:42:44.418004+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRAPPC6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28626029, 28397838, 31687267; Phenotypes: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:41:51.833586+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAPPC6B as ready",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:41:51.823351+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc6b has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:41:45.780601+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAPPC6B were changed from to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:41:35.105414+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAPPC6B were set to ",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:41:07.386673+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRAPPC6B was added\ngene: TRAPPC6B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review\nMode of inheritance for gene: TRAPPC6B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAPPC6B were set to 28626029; 28397838; 31687267\nPhenotypes for gene: TRAPPC6B were set to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862\nReview for gene: TRAPPC6B was set to GREEN\nAdded comment: Five unrelated families reported with autosomal recessive neurodegenerative disorder characterised by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia. \nSources: Expert Review",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:40:49.439895+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRAPPC6B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:40:37.846187+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAPPC6B were changed from to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:38:53.273464+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRAPPC6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28626029, 28397838, 31687267; Phenotypes: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:38:45.543764+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAPPC6B were set to ",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:38:11.234154+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRAPPC6B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:37:45.218614+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRAPPC6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28626029, 28397838, 31687267; Phenotypes: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:35:15.841348+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAPPC12 as ready",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:35:15.830531+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc12 has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:35:10.128890+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAPPC12 as ready",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:35:10.118275+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc12 has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:35:07.731862+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAPPC12 were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:34:47.343310+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAPPC12 were set to ",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:34:20.508903+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRAPPC12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:33:56.428900+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRAPPC12: Rating: GREEN; Mode of pathogenicity: None; Publications: 32369837, 28777934; Phenotypes: Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:32:53.270731+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRAPPC12 was added\ngene: TRAPPC12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review\nMode of inheritance for gene: TRAPPC12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAPPC12 were set to 32369837; 28777934\nPhenotypes for gene: TRAPPC12 were set to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669\nReview for gene: TRAPPC12 was set to GREEN\nAdded comment: Four families reported with a severe progressive encephalopathy characterized by microcephaly, global developmental delay, and hearing loss. \nSources: Expert Review",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:32:47.312784+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAPPC12 were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:32:29.479355+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAPPC12 were set to ",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:30:57.926385+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRAPPC12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:30:42.304808+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRAPPC12: Rating: GREEN; Mode of pathogenicity: None; Publications: 32369837, 28777934; Phenotypes: Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:30:18.790172+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAPPC12 were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:29:56.907944+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAPPC12 were set to ",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:29:13.694139+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRAPPC12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:28:46.495386+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRAPPC12: Rating: GREEN; Mode of pathogenicity: None; Publications: 32369837, 28777934; Phenotypes: Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:24:55.611714+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TPRKB was added\ngene: TPRKB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review\nMode of inheritance for gene: TPRKB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TPRKB were set to 28805828; 30053862\nPhenotypes for gene: TPRKB were set to Galloway-Mowat syndrome 5, MIM# 617731\nReview for gene: TPRKB was set to GREEN\nAdded comment: Three unrelated families reported with renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly. \nSources: Expert Review",
"entity_name": "TPRKB",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:23:01.021690+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPRKB as ready",
"entity_name": "TPRKB",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:23:01.010411+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tprkb has been classified as Green List (High Evidence).",
"entity_name": "TPRKB",
"entity_type": "gene"
},
{
"created": "2020-09-04T12:22:54.813679+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TPRKB were changed from to Galloway-Mowat syndrome 5, MIM# 617731",
"entity_name": "TPRKB",
"entity_type": "gene"
}
]
}