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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=976",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=974",
"results": [
{
"created": "2022-02-23T15:40:59.698442+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: WDR11: Changed rating: AMBER",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:39:57.504154+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WASHC5 as ready",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:39:57.492480+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: washc5 has been classified as Red List (Low Evidence).",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:39:53.617839+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WASHC5 were changed from Ritscher-Schinzel syndrome 1 220210; Spastic paraplegia 8, autosomal dominant 603563 to Ritscher-Schinzel syndrome 1, MIM# 220210",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:39:39.015141+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WASHC5 were set to ",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:39:04.064033+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: WASHC5.",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:38:53.899352+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WASHC5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ritscher-Schinzel syndrome 1, MIM# 220210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WASHC5",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:36:43.583233+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WAC as ready",
"entity_name": "WAC",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:36:43.571520+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wac has been classified as Red List (Low Evidence).",
"entity_name": "WAC",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:36:39.726537+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WAC were changed from INTELLECTUAL DISABILITY; WAC syndrome to Desanto-Shinawi syndrome, MIM# 616708",
"entity_name": "WAC",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:36:27.376421+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WAC were set to ",
"entity_name": "WAC",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:36:16.240190+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WAC was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "WAC",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:36:02.567704+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3974",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WAC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Desanto-Shinawi syndrome, MIM# 616708; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "WAC",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:34:12.149497+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3974",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UROC1 as ready",
"entity_name": "UROC1",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:34:12.138269+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3974",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uroc1 has been classified as Red List (Low Evidence).",
"entity_name": "UROC1",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:34:08.326478+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3974",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UROC1 were changed from UROCANASE DEFICIENCY to Urocanase deficiency, MIM#276880",
"entity_name": "UROC1",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:33:54.410590+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UROC1 were set to ",
"entity_name": "UROC1",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:33:09.547882+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UPF3B as ready",
"entity_name": "UPF3B",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:33:09.531582+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: upf3b has been classified as Red List (Low Evidence).",
"entity_name": "UPF3B",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:29:22.057648+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UPF3B were changed from MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 14 to Mental retardation, X-linked, syndromic 14, MIM# 300676",
"entity_name": "UPF3B",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:29:04.262134+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3971",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UPF3B were set to ",
"entity_name": "UPF3B",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:23:07.661736+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association, more than 7 families reported, mouse model and other functional data.; to: Well established gene-disease association, more than 7 families reported, mouse model and other functional data. Clinical presentation is typically post-natal.",
"entity_name": "UPF3B",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:22:51.883101+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UPF3B: Changed rating: RED",
"entity_name": "UPF3B",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:19:30.858060+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UNC80 as ready",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:19:30.846802+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc80 has been classified as Red List (Low Evidence).",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:18:35.871813+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UNC80 were set to ",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:18:19.036400+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UNC80: Changed rating: RED",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:17:32.212389+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UFM1 as ready",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:17:32.197876+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ufm1 has been classified as Red List (Low Evidence).",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:17:27.619120+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UFM1 were changed from Severe early-onset encephalopathy with progressive microcephaly, to Leukodystrophy, hypomyelinating, 14 MIM#617899",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:17:13.219964+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3968",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UFM1 were set to 29868776",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:16:51.316381+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3967",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UFM1: Added comment: Clinical presentation is typically post-natal.; Changed rating: RED; Changed phenotypes: Leukodystrophy, hypomyelinating, 14 MIM#617899; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:15:16.127196+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3967",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UFC1 as ready",
"entity_name": "UFC1",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:15:16.115410+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3967",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ufc1 has been classified as Red List (Low Evidence).",
"entity_name": "UFC1",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:15:10.443953+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3967",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UFC1 were changed from Severe early-onset encephalopathy with progressive microcephaly to Neurodevelopmental disorder with spasticity and poor growth (MIM#618076)",
"entity_name": "UFC1",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:14:57.047827+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3966",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UFC1 were set to ",
"entity_name": "UFC1",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:14:39.063212+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3965",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UFC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spasticity and poor growth (MIM#618076); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UFC1",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:13:38.610811+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3965",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBE3A as ready",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:13:38.601581+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3965",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube3a has been classified as Red List (Low Evidence).",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:13:34.079208+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3965",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBE3A were changed from ANGELMAN SYNDROME to Angelman syndrome MIM#105830",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:13:13.294368+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3964",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: UBE3A: Clinical presentation is typically post-natal.",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:12:38.236905+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3964",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UBE3A: Changed rating: RED",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:09:42.877836+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3964",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBE2A as ready",
"entity_name": "UBE2A",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:09:42.862390+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3964",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube2a has been classified as Red List (Low Evidence).",
"entity_name": "UBE2A",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:09:37.194484+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3964",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBE2A were changed from UBE2A-RELATED X-LINKED SYNDROMIC MENTAL RETARDATION to Mental retardation, X-linked syndromic, Nascimento-type (MIM#300860)",
"entity_name": "UBE2A",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:09:21.738192+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBE2A were set to ",
"entity_name": "UBE2A",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:09:02.582304+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3962",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UBE2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, X-linked syndromic, Nascimento-type (MIM#300860); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "UBE2A",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:07:35.247716+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3962",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBA5 as ready",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:07:35.237548+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3962",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uba5 has been classified as Red List (Low Evidence).",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:07:29.915811+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3962",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBA5 were changed from Severe Infantile-Onset Encephalopathy to Epileptic encephalopathy, early infantile, 44 (MIM#617132)",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:07:15.460922+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3961",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBA5 were set to ",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:06:58.042362+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UBA5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 44 (MIM#617132); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:05:48.124186+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUSC3 as ready",
"entity_name": "TUSC3",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:05:48.114495+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tusc3 has been classified as Red List (Low Evidence).",
"entity_name": "TUSC3",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:05:43.955851+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUSC3 were changed from MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 7 to Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615; TUSC3-CDG (Disorders of protein N-glycosylation)",
"entity_name": "TUSC3",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:05:30.118226+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3959",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUSC3 were set to ",
"entity_name": "TUSC3",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:05:03.377710+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 5 unrelated families reported, note homozygous deletions in at least two.; to: More than 5 unrelated families reported, note homozygous deletions in at least two. Clinical presentation is typically post-natal.",
"entity_name": "TUSC3",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:04:49.680434+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TUSC3: Changed rating: RED",
"entity_name": "TUSC3",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:03:59.318272+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM70 as ready",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:03:59.308783+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem70 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:03:55.129365+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM70 were changed from MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 MIM#614052",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:03:41.958090+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM70 were set to ",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:03:29.061128+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3956",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM70 as Amber List (moderate evidence)",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:03:29.050138+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3956",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem70 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:02:47.203110+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TIMM8A as ready",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:02:47.193913+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: timm8a has been classified as Red List (Low Evidence).",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:02:42.980581+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TIMM8A were changed from JENSEN SYNDROME; MOHR-TRANEBJAERG SYNDROME to Mohr-Tranebjaerg syndrome, MIM# 304700",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:02:21.221214+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TIMM8A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mohr-Tranebjaerg syndrome, MIM# 304700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:01:07.156232+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGFB1 as ready",
"entity_name": "TGFB1",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:01:07.143039+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgfb1 has been classified as Red List (Low Evidence).",
"entity_name": "TGFB1",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:00:44.083961+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGFB1 were changed from CAMURATI-ENGELMANN DISEASE to Inflammatory bowel disease, immunodeficiency, and encephalopathy, MIM# 618213",
"entity_name": "TGFB1",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:00:31.447691+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TGFB1 were set to ",
"entity_name": "TGFB1",
"entity_type": "gene"
},
{
"created": "2022-02-23T15:00:15.929722+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TGFB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TGFB1",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:59:54.568686+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Three individuals from two unrelated families reported. DD/ID and seizures in addition to IBD/immunodeficiency. \nSources: Expert list; to: Three individuals from two unrelated families reported. DD/ID and seizures in addition to IBD/immunodeficiency, clinical presentation is typically post-natal.",
"entity_name": "TGFB1",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:59:28.950809+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TGFB1: Changed rating: RED",
"entity_name": "TGFB1",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:58:53.807193+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TERT as ready",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:58:53.798533+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tert has been classified as Amber List (Moderate Evidence).",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:58:49.079635+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TERT were changed from Dyskeratosis congenita, autosomal recessive 4 to Dyskeratosis congenita, autosomal recessive 4, OMIM #613989; Hoyeraal-Hreidarsson syndrome",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:58:25.193609+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TERT were set to ",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:58:12.040682+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TERT as Amber List (moderate evidence)",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:58:12.027802+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tert has been classified as Amber List (Moderate Evidence).",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:57:58.071909+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3948",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: TERT: IUGR is a feature of HHS, the most severe end of the spectrum for this condition.",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:57:24.561218+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3948",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TERT: Changed rating: AMBER",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:55:20.865498+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3948",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCN2 as ready",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:55:20.855421+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3948",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcn2 has been classified as Red List (Low Evidence).",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:55:14.496893+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3948",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCN2 were changed from Transcobalamin II deficiency to Transcobalamin II deficiency, 275350",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:55:01.314785+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCN2 were set to ",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:54:43.726291+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TCN2: Changed rating: RED",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:53:54.922962+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SYNGAP1 as ready",
"entity_name": "SYNGAP1",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:53:54.910901+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syngap1 has been classified as Red List (Low Evidence).",
"entity_name": "SYNGAP1",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:53:50.996989+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SYNGAP1 were changed from MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 5; EPILEPTIC ENCEPHALOPATHY to Intellectual disability, autosomal dominant 5 (MIM # 612621)",
"entity_name": "SYNGAP1",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:53:36.874018+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SYNGAP1 were set to ",
"entity_name": "SYNGAP1",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:53:26.023471+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SYNGAP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SYNGAP1",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:52:52.536658+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SYNGAP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, autosomal dominant 5 (MIM # 612621); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SYNGAP1",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:52:00.434402+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STAG1 as ready",
"entity_name": "STAG1",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:52:00.421647+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stag1 has been classified as Red List (Low Evidence).",
"entity_name": "STAG1",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:51:55.910402+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STAG1 were changed from STAG1 syndromic intellectual disability to Mental retardation, autosomal dominant 47, MIM# 617635",
"entity_name": "STAG1",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:51:42.415634+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3942",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STAG1 were set to ",
"entity_name": "STAG1",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:51:32.095380+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STAG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STAG1",
"entity_type": "gene"
},
{
"created": "2022-02-23T14:51:19.432403+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Microcephaly is mild and inconsistent feature of this condition.; to: Microcephaly is mild and inconsistent feature of this condition, clinical presentation is typically post-natal.",
"entity_name": "STAG1",
"entity_type": "gene"
}
]
}