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{
"count": 221413,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=570",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=568",
"results": [
{
"created": "2023-08-02T14:38:52.221703+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:38:15.405673+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TH as ready",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:38:15.396341+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: th has been classified as Amber List (Moderate Evidence).",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:38:11.460222+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.205",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: MTTP: Rating: RED; Mode of pathogenicity: None; Publications: 30358967; Phenotypes: Abetalipoproteinemia (MIM#200100); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:38:11.325405+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TH as Amber List (moderate evidence)",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:38:11.315830+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: th has been classified as Amber List (Moderate Evidence).",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:37:09.904885+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TEP1 as ready",
"entity_name": "TEP1",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:37:09.895088+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tep1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TEP1",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:36:56.172668+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TEP1 as Amber List (moderate evidence)",
"entity_name": "TEP1",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:36:56.159361+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tep1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TEP1",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:35:48.081024+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TEP1 was added\ngene: TEP1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TEP1 were set to 34543729\nPhenotypes for gene: TEP1 were set to Cerebral palsy, MONDO:0006497, TEP1-related\nReview for gene: TEP1 was set to AMBER\nAdded comment: Wang et al. screened a large cohort of more than 600 CP patients from China and found several variants in TEP1, 11 of which were LoF, while no LoF variant was found in the control cohort. These children all had spastic CP. Among these 11 children, 6 children had birth asphyxia and neonatal encephalopathy. Compared to the total group with birth asphyxia (71/667), 6 patients with TEP1 LOF mutations had a significantly greater risk of birth asphyxia. They confirmed TEP1 as a risk factor for CP by cytological and animal models.\r\n\r\nUncertain if these are risk alleles vs indicative of a monogenic disorder. Note LoF variants in gnomad. As this was a cohort study, inheritance of these variants is unknown. \nSources: Literature",
"entity_name": "TEP1",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:35:28.416265+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TEP1 were changed from to Cerebral palsy, MONDO:0006497, TEP1-related",
"entity_name": "TEP1",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:34:04.496528+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TEP1 as Amber List (moderate evidence)",
"entity_name": "TEP1",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:34:04.482654+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tep1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TEP1",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:33:11.636276+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: TEP1: Uncertain if these are risk alleles vs indicative of a monogenic disorder. Note LoF variants in gnomad. As this was a cohort study, inheritance of these variants is unknown.",
"entity_name": "TEP1",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:31:31.910978+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TEP1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral palsy, MONDO:0006497, TEP1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TEP1",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:29:11.202117+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TEP1 as Green List (high evidence)",
"entity_name": "TEP1",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:29:11.182098+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tep1 has been classified as Green List (High Evidence).",
"entity_name": "TEP1",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:28:20.782407+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TANGO2 as ready",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:28:20.769426+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tango2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:28:15.797049+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TANGO2 as Amber List (moderate evidence)",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:28:15.786988+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tango2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:27:45.885159+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TANGO2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration MIM#616878; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:10:37.769404+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.205",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: None; Publications: 17251047, 14722612, 35420740; Phenotypes: Sandhoff disease, infantile, juvenile, and adult forms (MIM#268800); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:07:17.938001+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SYNGAP1 as ready",
"entity_name": "SYNGAP1",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:07:17.927545+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syngap1 has been classified as Green List (High Evidence).",
"entity_name": "SYNGAP1",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:07:13.276660+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SYNGAP1 as Green List (high evidence)",
"entity_name": "SYNGAP1",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:07:13.264066+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syngap1 has been classified as Green List (High Evidence).",
"entity_name": "SYNGAP1",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:02:43.586687+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SYNE1 as ready",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:02:43.573356+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syne1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:02:38.529519+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SYNE1 as Amber List (moderate evidence)",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:02:38.518632+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syne1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:01:54.876817+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUOX as ready",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:01:54.865432+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: suox has been classified as Green List (High Evidence).",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:01:51.134502+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SUOX as Green List (high evidence)",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:01:51.125136+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: suox has been classified as Green List (High Evidence).",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:01:02.660413+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STAMBP as ready",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:01:02.642849+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stambp has been classified as Green List (High Evidence).",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:00:57.982924+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STAMBP as Green List (high evidence)",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:00:57.972169+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stambp has been classified as Green List (High Evidence).",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:00:13.637084+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ST3GAL5 as ready",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:00:13.626941+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: st3gal5 has been classified as Green List (High Evidence).",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:00:09.401203+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ST3GAL5 as Green List (high evidence)",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2023-08-02T14:00:09.383622+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: st3gal5 has been classified as Green List (High Evidence).",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:59:12.493738+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPTBN2 as ready",
"entity_name": "SPTBN2",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:59:12.483301+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptbn2 has been classified as Green List (High Evidence).",
"entity_name": "SPTBN2",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:59:02.008311+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPTBN2 as Green List (high evidence)",
"entity_name": "SPTBN2",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:59:01.986049+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptbn2 has been classified as Green List (High Evidence).",
"entity_name": "SPTBN2",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:56:17.139021+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPR as ready",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:56:17.126638+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spr has been classified as Green List (High Evidence).",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:56:11.670766+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPR as Green List (high evidence)",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:56:11.660671+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spr has been classified as Green List (High Evidence).",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:55:23.699027+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPATA5 as ready",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:55:23.677646+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spata5 has been classified as Green List (High Evidence).",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:55:19.512822+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPATA5 as Green List (high evidence)",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:55:19.501168+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spata5 has been classified as Green List (High Evidence).",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:54:36.698467+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SON as ready",
"entity_name": "SON",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:54:36.685382+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: son has been classified as Amber List (Moderate Evidence).",
"entity_name": "SON",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:54:31.734500+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SON as Amber List (moderate evidence)",
"entity_name": "SON",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:54:31.723472+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: son has been classified as Amber List (Moderate Evidence).",
"entity_name": "SON",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:53:41.391066+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNX14 as ready",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:53:41.380814+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snx14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:53:36.196861+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNX14 as Amber List (moderate evidence)",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:53:36.183972+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snx14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SNX14",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:52:36.416731+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMARCB1 as Amber List (moderate evidence)",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:52:36.403202+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarcb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:51:45.835973+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLITRK2 as ready",
"entity_name": "SLITRK2",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:51:45.822045+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slitrk2 has been classified as Green List (High Evidence).",
"entity_name": "SLITRK2",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:51:41.801885+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLITRK2 as Green List (high evidence)",
"entity_name": "SLITRK2",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:51:41.787892+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slitrk2 has been classified as Green List (High Evidence).",
"entity_name": "SLITRK2",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:50:00.435884+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC5A6 as ready",
"entity_name": "SLC5A6",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:50:00.412333+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc5a6 has been classified as Green List (High Evidence).",
"entity_name": "SLC5A6",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:49:56.194448+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC5A6 as Green List (high evidence)",
"entity_name": "SLC5A6",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:49:56.181689+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc5a6 has been classified as Green List (High Evidence).",
"entity_name": "SLC5A6",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:49:08.966915+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC16A2 as ready",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:49:08.955422+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc16a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:49:04.157666+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC16A2 as Green List (high evidence)",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:49:04.141301+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc16a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:48:01.046422+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC13A5 as ready",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:48:01.034508+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc13a5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:47:55.135387+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC13A5 as Amber List (moderate evidence)",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2023-08-02T13:47:55.123598+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc13a5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2023-08-02T12:37:46.863085+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1051",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:DUSP7 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-08-02T12:30:06.423536+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.205",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Systemic disease manifesting a range of phenotypes including small-fibre neuropathy.\r\nNeuropathy is not a specific feature of Fabry Disease however is shown to progress with age.; to: Systemic disease manifesting a range of phenotypes including small-fibre neuropathy.\r\nNeuropathy is not a specific feature of Fabry Disease however is shown to progress with age.\r\nVariants in GLA have been reported in individuals with neuropathy pain. ",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2023-08-02T12:29:03.929139+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.205",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: GLA: Rating: AMBER; Mode of pathogenicity: None; Publications: 19318041, 22497776; Phenotypes: Fabry Disease (MIM#301500); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2023-08-02T11:51:43.818093+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.205",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: None; Publications: 21981780; Phenotypes: Neurodegeneration with brain iron accumulation 4 (NBIA) (MONDO:0013674); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2023-08-02T11:08:13.955775+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF4A2 were changed from Neurodevelopmental disorder (MONDO:0700092), EIF4A2-related to Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, MIM# 620455",
"entity_name": "EIF4A2",
"entity_type": "gene"
},
{
"created": "2023-08-02T11:07:48.146319+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF4A2 were changed from Neurodevelopmental disorder (MONDO:0700092), EIF4A2-related to Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, MIM# 620455",
"entity_name": "EIF4A2",
"entity_type": "gene"
},
{
"created": "2023-08-02T11:07:06.262410+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF4A2 were changed from Neurodevelopmental disorder (MONDO:0700092), EIF4A2-related to Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, MIM# 620455",
"entity_name": "EIF4A2",
"entity_type": "gene"
},
{
"created": "2023-08-02T11:06:09.441453+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF4A2 were changed from Neurodevelopmental disorder (MONDO:0700092), EIF4A2-related to Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, MIM# \t620455",
"entity_name": "EIF4A2",
"entity_type": "gene"
},
{
"created": "2023-08-02T09:17:04.952936+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1049",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: TINF2: Rating: AMBER; Mode of pathogenicity: None; Publications: https://doi.org/10.1016/j.xhgg.2023.100225; Phenotypes: Multiple Primary Melanomas (MPM); Mode of inheritance: Unknown",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2023-08-01T18:49:48.275834+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SHANK3 were set to 17173049",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2023-08-01T18:49:18.311824+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SHANK3 as Amber List (moderate evidence)",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2023-08-01T18:49:18.299184+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shank3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2023-08-01T18:48:28.326053+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEPSECS as ready",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2023-08-01T18:48:28.311191+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sepsecs has been classified as Green List (High Evidence).",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2023-08-01T18:48:23.868685+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEPSECS as Green List (high evidence)",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2023-08-01T18:48:23.855631+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sepsecs has been classified as Green List (High Evidence).",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2023-08-01T18:47:23.440205+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SATB2 as ready",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2023-08-01T18:47:23.427082+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: satb2 has been classified as Green List (High Evidence).",
"entity_name": "SATB2",
"entity_type": "gene"
}
]
}