HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221413,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=346",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=344",
"results": [
{
"created": "2024-11-14T17:39:54.090364+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.547",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: FOXP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11295725, 11137993, 33668198, 33614561, 33330291, 32234571; Phenotypes: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (MIM#304790); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:33:59.547641+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.547",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 39306721; Phenotypes: Neurodevelopmental disorder MONDO:0700092, FLVCR1-related, Ataxia, posterior column, with retinitis pigmentosa, MIM#609033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FLVCR1",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:30:57.700016+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HMGCL as ready",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:30:57.688714+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmgcl has been classified as Green List (High Evidence).",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:29:50.589652+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HMGCL were changed from to 3-hydroxy-3-methylglutaric aciduria MONDO:0009520",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:29:09.257975+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HMGCL were set to ",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:28:29.923193+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HMGCL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:27:30.923872+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HLCS as ready",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:27:30.913519+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hlcs has been classified as Green List (High Evidence).",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:27:22.053758+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HLCS were changed from to holocarboxylase synthetase deficiency MONDO:0009666",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:26:43.233730+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HLCS were set to ",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:25:58.860044+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HLCS was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:25:24.382795+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HLCS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:24:56.739897+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.547",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38277301; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 (MIM#613153), Muscular dystrophy-dystroglycanopathy (congenital with or without intellectual development), type B, 5 (MIM#606612), Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (MIM#607155); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:24:21.307751+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HIBCH as ready",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:24:21.294676+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hibch has been classified as Green List (High Evidence).",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:23:22.444056+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HIBCH were changed from 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603; Leigh syndrome MONDO:0009723 to 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603; Leigh syndrome MONDO:0009723",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:22:46.099059+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HIBCH were changed from to 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603; Leigh syndrome MONDO:0009723",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:21:28.693952+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HIBCH were set to ",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:20:07.270435+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HIBCH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:19:18.869772+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HEXB as ready",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:19:18.854578+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hexb has been classified as Green List (High Evidence).",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:19:14.608989+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HEXB were changed from Sandhoff disease MONDO:0010006 to Sandhoff disease MONDO:0010006",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:18:42.401102+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HEXB were changed from to Sandhoff disease MONDO:0010006",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:18:05.279020+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HEXB were set to 35420740",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:17:25.584947+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HEXB were set to ",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:16:33.293887+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HEXB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:15:55.606870+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HEXB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:14:52.658350+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HEXA as ready",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:14:52.636976+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hexa has been classified as Green List (High Evidence).",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:14:45.148645+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HEXA were changed from to Tay-Sachs disease MONDO:0010100",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:09:20.449501+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HEXA were set to ",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:08:40.815582+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HEXA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:07:59.435241+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HESX1 were changed from septooptic dysplasia MONDO:0008428, Pituitary hormone deficiency, combined, 5 MONDO:0013099 to septooptic dysplasia MONDO:0008428, Pituitary hormone deficiency, combined, 5 MONDO:0013099",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:07:53.942826+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HESX1 as ready",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:07:53.931578+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hesx1 has been classified as Green List (High Evidence).",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:07:32.225804+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HESX1 were changed from to septooptic dysplasia MONDO:0008428, Pituitary hormone deficiency, combined, 5 MONDO:0013099",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:06:18.999311+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HESX1 were set to ",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:05:34.638623+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HESX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:04:53.351259+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HESX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: septooptic dysplasia MONDO:0008428, Pituitary hormone deficiency, combined, 5 MONDO:0013099; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:03:25.366772+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HEPACAM as ready",
"entity_name": "HEPACAM",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:03:25.351600+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hepacam has been classified as Green List (High Evidence).",
"entity_name": "HEPACAM",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:03:17.912361+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HEPACAM were changed from to Megalencephalic leukoencephalopathy with subcortical cysts 2A MONDO:0013490; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability MONDO:0013491",
"entity_name": "HEPACAM",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:02:35.598842+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HEPACAM were set to ",
"entity_name": "HEPACAM",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:01:28.894637+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HEPACAM was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "HEPACAM",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:00:26.202545+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HCCS as ready",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:00:26.176454+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hccs has been classified as Green List (High Evidence).",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2024-11-14T17:00:10.711583+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HCCS were changed from to linear skin defects with multiple congenital anomalies 1 (MONDO:0024552)",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2024-11-14T16:59:27.030367+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HCCS were set to ",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2024-11-14T16:58:48.481394+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HCCS was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2024-11-14T16:57:30.083174+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HCCS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: linear skin defects with multiple congenital anomalies 1 (MONDO:0024552); 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": "HCCS",
"entity_type": "gene"
},
{
"created": "2024-11-14T16:55:14.278851+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GTF2H5 as ready",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2024-11-14T16:55:14.265749+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtf2h5 has been classified as Green List (High Evidence).",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2024-11-14T16:55:04.734902+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GTF2H5 were changed from to Trichothiodystrophy 3, photosensitive MIM#616395",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2024-11-14T16:54:24.583977+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6748",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GTF2H5 were set to ",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2024-11-14T16:53:46.599486+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GTF2H5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2024-11-14T16:53:07.965182+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6746",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GTF2H5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichothiodystrophy 3, photosensitive MIM#616395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2024-11-14T16:52:13.402500+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6746",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRM1 as ready",
"entity_name": "GRM1",
"entity_type": "gene"
},
{
"created": "2024-11-14T16:52:13.374690+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6746",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grm1 has been classified as Green List (High Evidence).",
"entity_name": "GRM1",
"entity_type": "gene"
},
{
"created": "2024-11-14T16:52:09.033121+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6746",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRM1 were changed from to autosomal recessive spinocerebellar ataxia 13 MONDO:0013905",
"entity_name": "GRM1",
"entity_type": "gene"
},
{
"created": "2024-11-14T16:51:16.385622+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRM1 were set to ",
"entity_name": "GRM1",
"entity_type": "gene"
},
{
"created": "2024-11-14T16:50:37.165404+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRM1",
"entity_type": "gene"
},
{
"created": "2024-11-14T16:49:57.686145+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GRM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: autosomal recessive spinocerebellar ataxia 13 MONDO:0013905; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRM1",
"entity_type": "gene"
},
{
"created": "2024-11-14T16:45:54.204607+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPC3 as ready",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2024-11-14T16:45:54.191332+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpc3 has been classified as Green List (High Evidence).",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2024-11-14T16:45:45.864884+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPC3 were changed from to Simpson-Golabi-Behmel syndrome MONDO:0010731",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2024-11-14T16:45:03.221708+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPC3 were set to ",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2024-11-14T16:44:16.579674+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GPC3 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2024-11-14T16:43:18.060945+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNS as ready",
"entity_name": "GNS",
"entity_type": "gene"
},
{
"created": "2024-11-14T16:43:18.033591+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gns has been classified as Green List (High Evidence).",
"entity_name": "GNS",
"entity_type": "gene"
},
{
"created": "2024-11-14T16:41:49.725148+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.547",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30869852; Phenotypes: Combined oxidative phosphorylation deficiency 14 (MIM#614946), Spastic paraplegia 77 (MIM#617046); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2024-11-14T16:35:58.615607+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNS were changed from to mucopolysaccharidosis type 3D MONDO:0009658",
"entity_name": "GNS",
"entity_type": "gene"
},
{
"created": "2024-11-14T16:35:18.645028+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNS were set to ",
"entity_name": "GNS",
"entity_type": "gene"
},
{
"created": "2024-11-14T16:34:40.225268+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNS",
"entity_type": "gene"
},
{
"created": "2024-11-14T16:23:15.306599+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.547",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "reviewed gene: F7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor VII deficiency, MIM# 227500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2024-11-14T15:58:14.518736+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNPTAB as ready",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2024-11-14T15:58:14.489505+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnptab has been classified as Green List (High Evidence).",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2024-11-14T15:58:08.072701+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNPTAB were changed from to GNPTAB-mucolipidosis MONDO:0100122",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2024-11-14T15:57:20.514588+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNPTAB were set to ",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2024-11-14T15:56:41.103666+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNPTAB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2024-11-14T15:55:51.682261+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNPAT as ready",
"entity_name": "GNPAT",
"entity_type": "gene"
},
{
"created": "2024-11-14T15:55:51.661010+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnpat has been classified as Green List (High Evidence).",
"entity_name": "GNPAT",
"entity_type": "gene"
},
{
"created": "2024-11-14T15:55:47.268980+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNPAT were changed from to glyceronephosphate O-acyltransferase deficiency MONDO:0100273",
"entity_name": "GNPAT",
"entity_type": "gene"
},
{
"created": "2024-11-14T15:55:07.805378+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNPAT were set to ",
"entity_name": "GNPAT",
"entity_type": "gene"
},
{
"created": "2024-11-14T15:54:30.769817+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNPAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNPAT",
"entity_type": "gene"
},
{
"created": "2024-11-14T15:53:41.263521+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GMPPB as ready",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2024-11-14T15:53:41.249448+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gmppb has been classified as Green List (High Evidence).",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2024-11-14T15:53:37.214864+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GMPPB were changed from to myopathy caused by variation in GMPPB MONDO:0700084",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2024-11-14T15:52:56.614549+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GMPPB were set to ",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2024-11-14T15:52:11.373917+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GMPPB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2024-11-14T15:51:23.455330+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GMPPA as ready",
"entity_name": "GMPPA",
"entity_type": "gene"
},
{
"created": "2024-11-14T15:51:23.446079+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gmppa has been classified as Green List (High Evidence).",
"entity_name": "GMPPA",
"entity_type": "gene"
},
{
"created": "2024-11-14T15:51:19.765940+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GMPPA were changed from to alacrima, achalasia, and intellectual disability syndrome MONDO:0014219",
"entity_name": "GMPPA",
"entity_type": "gene"
},
{
"created": "2024-11-14T15:50:32.529127+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GMPPA were set to ",
"entity_name": "GMPPA",
"entity_type": "gene"
},
{
"created": "2024-11-14T15:49:51.889888+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GMPPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GMPPA",
"entity_type": "gene"
},
{
"created": "2024-11-14T15:49:03.423528+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GM2A as ready",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2024-11-14T15:49:03.407730+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gm2a has been classified as Green List (High Evidence).",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2024-11-14T15:48:52.088572+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GM2A were changed from to Tay-Sachs disease AB variant MONDO:0010099",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2024-11-14T15:46:22.443874+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6724",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GM2A were set to ",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2024-11-14T15:45:39.247317+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6723",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GM2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GM2A",
"entity_type": "gene"
}
]
}