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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=396",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=394",
"results": [
{
"created": "2024-09-08T12:04:00.422334+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6188",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29205794, 32423379, 30737337, 26537577, 23541342; Phenotypes: Perrault syndrome 4, MIM# 615300, Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2024-09-08T12:00:43.581445+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6188",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12966029, 19067344, 17436019, 21248746, 19299310; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM# 608840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2024-09-08T11:56:47.423210+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6188",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 10972294; Phenotypes: Danon disease, MIM# 300257, MONDO:0010281; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2024-09-08T11:51:41.052919+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6188",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: PARN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25893599, 26342108; Phenotypes: Dyskeratosis congenita, autosomal recessive 6, MIM# 616353; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2024-09-08T11:47:49.981335+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.559",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PAX6 as Red List (low evidence)",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2024-09-08T11:47:49.964149+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.559",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pax6 has been classified as Red List (Low Evidence).",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2024-09-08T11:47:31.636069+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.27",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PAX6 as Red List (low evidence)",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2024-09-08T11:47:31.614107+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.27",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pax6 has been classified as Red List (Low Evidence).",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2024-09-08T11:47:11.380323+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.26",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2024-09-08T11:47:07.929793+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.558",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PAX6 as Red List (low evidence)",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2024-09-08T11:47:07.911059+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.558",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pax6 has been classified as Red List (Low Evidence).",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2024-09-08T11:46:44.465094+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.558",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PAX6 as Red List (low evidence)",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2024-09-08T11:46:44.432892+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.558",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pax6 has been classified as Red List (Low Evidence).",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2024-09-08T11:46:11.976913+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.557",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2024-09-08T11:45:33.156357+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6188",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 26130484, 31700164; Phenotypes: Microphthalmia/coloboma 12, OMIM #120200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2024-09-08T11:42:17.742060+10:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.43",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: PAX8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33272083, 9590296 11232006 15356023 15718293; Phenotypes: Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "PAX8",
"entity_type": "gene"
},
{
"created": "2024-09-08T11:42:14.947988+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6188",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: PAX8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33272083, 9590296 11232006 15356023 15718293; Phenotypes: Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "PAX8",
"entity_type": "gene"
},
{
"created": "2024-09-08T11:37:49.975010+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6188",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 9585612, 12112657; Phenotypes: Pyruvate carboxylase deficiency - MIM#266150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PC",
"entity_type": "gene"
},
{
"created": "2024-09-07T16:14:55.717323+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.114",
"user_name": "Carolyn Bursle",
"item_type": "entity",
"text": "reviewed gene: AHCY: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "AHCY",
"entity_type": "gene"
},
{
"created": "2024-09-06T20:08:46.232282+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.282",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: CSTB as ready",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2024-09-06T20:08:46.223719+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.282",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: downgrade to amber when updating, common variant not detected with WES",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2024-09-06T20:08:46.156013+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.282",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: cstb has been classified as Green List (High Evidence).",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2024-09-06T20:07:49.337378+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.282",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: EIF2B4 as ready",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2024-09-06T20:07:49.314361+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.282",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: eif2b4 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2024-09-06T20:07:44.205922+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.282",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: EIF2B4 were set to ",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2024-09-06T20:06:08.919558+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.281",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: ERBB3 as ready",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2024-09-06T20:06:08.912633+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.281",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Upgrade to green",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2024-09-06T20:06:08.866725+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.281",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: erbb3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2024-09-06T20:06:03.316615+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.281",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Tag for review tag was added to gene: ERBB3.",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2024-09-06T20:05:28.558234+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.281",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: ERBB3 were changed from Lethal congenital contractural syndrome 2, 607598 (3) to Visceral neuropathy, familial, 1, autosomal recessive MIM#243180",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2024-09-06T20:05:14.367539+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.280",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: ERBB3 were set to ",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2024-09-06T18:39:31.343766+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC6A3 as ready",
"entity_name": "SLC6A3",
"entity_type": "gene"
},
{
"created": "2024-09-06T18:39:31.325920+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC6A3",
"entity_type": "gene"
},
{
"created": "2024-09-06T18:39:22.121489+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC6A3 were changed from to Parkinsonism-dystonia, infantile, 1, MIM# 613135",
"entity_name": "SLC6A3",
"entity_type": "gene"
},
{
"created": "2024-09-06T18:38:41.669875+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC6A3 were set to ",
"entity_name": "SLC6A3",
"entity_type": "gene"
},
{
"created": "2024-09-06T18:38:01.500511+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC6A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC6A3",
"entity_type": "gene"
},
{
"created": "2024-09-06T18:37:17.879703+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC6A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21112253; Phenotypes: Parkinsonism-dystonia, infantile, 1, MIM# 613135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC6A3",
"entity_type": "gene"
},
{
"created": "2024-09-06T18:32:51.846350+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SRD5A3 as ready",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2024-09-06T18:32:51.830039+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srd5a3 has been classified as Green List (High Evidence).",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2024-09-06T18:32:46.963506+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRD5A3 were changed from to Congenital disorder of glycosylation, type Iq, MIM#612379; Kahrizi syndrome, MIM# 612713",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2024-09-06T18:31:36.474779+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SRD5A3 were set to ",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2024-09-06T18:30:52.014932+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SRD5A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2024-09-06T18:30:11.052899+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SRD5A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32424323; Phenotypes: Congenital disorder of glycosylation, type Iq, MIM#612379, Kahrizi syndrome, MIM# 612713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2024-09-06T18:27:46.646298+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC6A8 as ready",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2024-09-06T18:27:46.606320+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a8 has been classified as Green List (High Evidence).",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2024-09-06T18:27:39.510691+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC6A8 were changed from to Cerebral creatine deficiency syndrome 1, MIM# 300352",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2024-09-06T18:26:58.195098+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC6A8 were set to ",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2024-09-06T18:26:14.957119+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC6A8 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2024-09-06T18:25:31.955381+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC6A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 27604308, 16738945; Phenotypes: Cerebral creatine deficiency syndrome 1, MIM# 300352; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2024-09-06T16:50:56.557636+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.279",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: B3GALNT2 as ready",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2024-09-06T16:50:56.546924+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.279",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies'",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2024-09-06T16:50:56.491893+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.279",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: b3galnt2 has been classified as Green List (High Evidence).",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2024-09-06T16:50:02.579040+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.279",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: B3GALNT2 were set to ",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2024-09-06T16:48:57.984037+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.278",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: EVC2 as ready",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2024-09-06T16:48:57.970362+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.278",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: evc2 has been classified as Green List (High Evidence).",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2024-09-06T16:48:52.609374+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.278",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: EVC2 were set to ",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2024-09-06T16:47:53.078888+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.277",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: FAT4 as ready",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2024-09-06T16:47:53.056959+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.277",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: fat4 has been classified as Green List (High Evidence).",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2024-09-06T16:47:49.416796+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.277",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: FAT4 were changed from Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3) to Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006; Van Maldergem syndrome 2 MIM#615546",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2024-09-06T16:47:02.205373+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.276",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: FAT4 were set to ",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2024-09-06T16:45:47.613530+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.275",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: FKTN as ready",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2024-09-06T16:45:47.596769+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.275",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: fktn has been classified as Green List (High Evidence).",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2024-09-06T16:45:43.997249+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.275",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: FKTN were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3) to Cardiomyopathy, dilated, 1X\tMIM#611615; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4MIM#253800; Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4 MIM#613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 MIM#\t611588",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2024-09-06T16:43:05.891523+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.274",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: FKTN were set to ",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2024-09-06T16:41:58.430356+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.273",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: GDF5 as ready",
"entity_name": "GDF5",
"entity_type": "gene"
},
{
"created": "2024-09-06T16:41:58.396790+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.273",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: gdf5 has been classified as Green List (High Evidence).",
"entity_name": "GDF5",
"entity_type": "gene"
},
{
"created": "2024-09-06T16:40:51.901346+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.273",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: GDF5 were set to ",
"entity_name": "GDF5",
"entity_type": "gene"
},
{
"created": "2024-09-06T16:37:31.084918+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPTBN2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SPTBN2",
"entity_type": "gene"
},
{
"created": "2024-09-06T16:36:53.294451+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPTBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23236289, 23838597, 22781464, 31617442, 31066025; Phenotypes: Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386, Spinocerebellar ataxia 5, MIM# 600224; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SPTBN2",
"entity_type": "gene"
},
{
"created": "2024-09-06T16:24:47.423005+10:00",
"panel_name": "Hypercalcaemia",
"panel_id": 117,
"panel_version": "1.2",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: AP2S1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29325022; Phenotypes: Hypocalciuric hypercalcaemia, type III, MIM# 600740, MONDO:0010926; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:18:05.483829+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ST3GAL3 as ready",
"entity_name": "ST3GAL3",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:18:05.465403+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: st3gal3 has been classified as Green List (High Evidence).",
"entity_name": "ST3GAL3",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:17:58.834351+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ST3GAL3 were changed from to Intellectual disability, autosomal recessive 12 MIM# 611090",
"entity_name": "ST3GAL3",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:16:20.939842+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ST3GAL3 were set to ",
"entity_name": "ST3GAL3",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:15:44.982904+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.272",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: FANCC as ready",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:15:44.976536+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.272",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:15:44.930546+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.272",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: fancc has been classified as Green List (High Evidence).",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:15:37.737066+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ST3GAL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ST3GAL3",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:15:18.359383+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.272",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: FANCC were set to ",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:14:54.735441+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ST3GAL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23252400, 21907012, 31584066, 37938134; Phenotypes: Intellectual disability, autosomal recessive 12 MIM# 611090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ST3GAL3",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:13:19.986481+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ST3GAL3 were changed from Mental retardation, autosomal recessive 12 MIM# 611090 to Intellectual disability, autosomal recessive 12 MIM# 611090",
"entity_name": "ST3GAL3",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:12:49.923692+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.271",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: KCNJ11 as ready",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:12:49.916666+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.271",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Permanent neonatal diabetes mellitus-2 (PNDM2) is characterized by onset of insulin-requiring hyperglycemia within the first months of life that requires insulin therapy throughout life. Some patients additionally have marked developmental delay, muscle weakness, and epilepsy",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:12:49.860364+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.271",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: kcnj11 has been classified as Green List (High Evidence).",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:12:45.653079+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.271",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: KCNJ11 were set to ",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:12:20.954722+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ST3GAL3: Changed phenotypes: Intellectual disability, autosomal recessive 12 MIM# 611090",
"entity_name": "ST3GAL3",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:11:20.494842+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.270",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: COL4A4 as ready",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:11:20.479825+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.270",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: col4a4 has been classified as Green List (High Evidence).",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:11:16.086694+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.270",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: COL4A4 were set to ",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:11:11.543327+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUCLG1 as ready",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:11:11.520055+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: suclg1 has been classified as Green List (High Evidence).",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:11:03.615595+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUCLG1 were changed from Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400 to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:10:27.204039+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUCLG1 were changed from to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:10:24.068748+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.269",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: ICOS as ready",
"entity_name": "ICOS",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:10:24.044186+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.269",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: icos has been classified as Green List (High Evidence).",
"entity_name": "ICOS",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:10:14.834635+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.269",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: ICOS were set to ",
"entity_name": "ICOS",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:09:36.379888+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SUCLG1 were set to ",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:09:32.759533+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.268",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: ICOS.",
"entity_name": "ICOS",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:08:55.638250+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SUCLG1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2024-09-06T15:08:32.617841+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.268",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: ITGB2 as ready",
"entity_name": "ITGB2",
"entity_type": "gene"
}
]
}