HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=721",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=719",
"results": [
{
"created": "2022-10-07T16:38:16.868918+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.495",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32877590; Phenotypes: Aicardi-Goutieres syndrome 5, MIM# 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:38:12.420125+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.137",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: ACP5 was added\ngene: ACP5 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list\nMode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACP5 were set to 26854080; 26951490; 21217755; 26789720; 2363422; 21217752\nPhenotypes for gene: ACP5 were set to Spondyloenchondrodysplasia with immune dysregulation, OMIM# 607944\nReview for gene: ACP5 was set to GREEN\nAdded comment: Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency.\r\n\r\nMultiple reports in literature. Well established disease gene.\r\n\r\nSkeletal findings likely to be seen in fetal period \nSources: Literature, Expert list",
"entity_name": "ACP5",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:36:35.714000+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BSND as ready",
"entity_name": "BSND",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:36:35.705130+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bsnd has been classified as Green List (High Evidence).",
"entity_name": "BSND",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:36:32.059066+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BSND were changed from Bartter syndrome with sensorineural deafness to Bartter syndrome, type 4a, MIM# 602522",
"entity_name": "BSND",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:36:17.364981+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: BSND.",
"entity_name": "BSND",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:35:56.986640+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BSND: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bartter syndrome, type 4a, MIM# 602522; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BSND",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:31:10.662490+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.494",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SALL1 as ready",
"entity_name": "SALL1",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:31:10.653234+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.494",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sall1 has been classified as Red List (Low Evidence).",
"entity_name": "SALL1",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:30:58.846154+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BSCL2 as ready",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:30:58.815389+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bscl2 has been classified as Green List (High Evidence).",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:30:56.376354+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.494",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SALL1 were changed from Townes-Brocks syndrome to Townes-Brocks syndrome 1, MIM#107480",
"entity_name": "SALL1",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:30:53.200834+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: BSCL2.\nTag treatable tag was added to gene: BSCL2.",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:30:40.964015+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BSCL2: Changed rating: GREEN",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:30:32.729022+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BSCL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipodystrophy, congenital generalized, type 2, MIM# 269700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:29:55.405885+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.493",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SALL1 as Red List (low evidence)",
"entity_name": "SALL1",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:29:55.397710+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.493",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sall1 has been classified as Red List (Low Evidence).",
"entity_name": "SALL1",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:29:40.439495+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.492",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SALL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Townes-Brocks syndrome 1, MIM#107480; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SALL1",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:24:26.280935+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.492",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SACS as ready",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:24:26.272387+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.492",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sacs has been classified as Red List (Low Evidence).",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:24:13.565738+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.492",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SACS were changed from Spastic ataxia Charlevoix-Saguenay type to Spastic ataxia, Charlevoix-Saguenay type MIM#270550",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:23:57.555495+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.491",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SACS as Red List (low evidence)",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:23:57.548414+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.491",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sacs has been classified as Red List (Low Evidence).",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:23:40.930928+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.490",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SACS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type MIM#270550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:12:12.154402+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.490",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: G6PD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemolytic anemia, G6PD deficient (favism), MIM# 300908; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:08:24.629344+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRIP1 as ready",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:08:24.621626+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brip1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:08:19.470414+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRIP1 were changed from to Fanconi anaemia, complementation group J, MIM# 609054",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:07:39.435744+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BRIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:05:28.927156+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BRIP1 as Amber List (moderate evidence)",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2022-10-07T16:05:28.918645+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brip1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:59:53.822294+11:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: BRIP1.",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:59:37.807522+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: BRIP1.",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:58:59.962497+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: BRIP1.",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:58:40.359661+11:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: BRIP1.",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:58:24.514768+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: BRIP1.",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:58:10.392028+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRIP1 as ready",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:58:10.384183+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brip1 has been classified as Green List (High Evidence).",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:58:03.959300+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: BRIP1.",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:57:33.882266+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group J, MIM# 609054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:56:32.686651+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.490",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:51:52.259712+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BMPR1A as ready",
"entity_name": "BMPR1A",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:51:52.252271+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmpr1a has been classified as Red List (Low Evidence).",
"entity_name": "BMPR1A",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:51:46.410738+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BMPR1A as Red List (low evidence)",
"entity_name": "BMPR1A",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:51:46.403262+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmpr1a has been classified as Red List (Low Evidence).",
"entity_name": "BMPR1A",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:51:35.138679+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: BMPR1A.",
"entity_name": "BMPR1A",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:51:25.123071+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BMPR1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Polyposis, juvenile intestinal, MIM# 174900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BMPR1A",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:47:18.883094+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BLM as ready",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:47:18.863723+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: blm has been classified as Red List (Low Evidence).",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:47:15.235436+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BLM were changed from Bloom syndrome to Bloom syndrome, MIM# 210900",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:47:01.448862+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BLM as Red List (low evidence)",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:47:01.423756+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: blm has been classified as Red List (Low Evidence).",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:46:47.829633+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BLM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bloom syndrome, MIM# 210900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:30:58.169287+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADGRV1 as ready",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:30:58.160075+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adgrv1 has been classified as Green List (High Evidence).",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:30:55.005605+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADGRV1 were changed from Usher syndrome, type 2C to Usher syndrome, type 2C, MIM# 605472",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:30:31.547139+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADGRV1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type 2C, MIM# 605472; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:24:07.408001+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACADVL as ready",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:24:07.400132+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acadvl has been classified as Green List (High Evidence).",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:24:02.748595+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACADVL were set to ",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:21:29.464768+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ACAD9.",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:21:09.538404+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ACAD9.",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:20:47.081233+11:00",
"panel_name": "Rhabdomyolysis",
"panel_id": 3084,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ACAD9.",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:20:11.621566+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ACAD9.",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:19:52.125196+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ACAD9.",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:19:30.518411+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ACAD9.",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:19:12.878154+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ACAD9.",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:17:39.456377+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACAD9 as ready",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:17:39.448331+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acad9 has been classified as Green List (High Evidence).",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:17:30.981185+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ACAD9.",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:17:26.557613+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.485",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: G6PC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease Ia, MIM# 232200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "G6PC",
"entity_type": "gene"
},
{
"created": "2022-10-07T15:17:16.741063+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2022-10-07T14:26:24.564994+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GALT was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2022-10-07T14:26:02.024628+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactosemia MIM#230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2022-10-07T14:25:00.748121+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactosemia MIM#230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2022-10-07T14:20:11.211805+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GALT was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2022-10-06T21:12:00.429288+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTG1 as ready",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2022-10-06T21:12:00.394060+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actg1 has been classified as Red List (Low Evidence).",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2022-10-06T21:11:56.934533+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTG1 were changed from Baraitser-Winter syndrome; Deafness, autosomal dominant to Baraitser-Winter syndrome 2MIM#614583; Deafness, autosomal dominant 20/26 MIM#604717",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2022-10-06T21:11:44.345947+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACTG1 as Red List (low evidence)",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2022-10-06T21:11:44.337243+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actg1 has been classified as Red List (Low Evidence).",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2022-10-06T21:11:33.339988+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACTG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Baraitser-Winter syndrome 2MIM#614583, Deafness, autosomal dominant 20/26 MIM#604717; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2022-10-06T21:09:22.429469+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACAD8 as ready",
"entity_name": "ACAD8",
"entity_type": "gene"
},
{
"created": "2022-10-06T21:09:22.421891+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acad8 has been classified as Red List (Low Evidence).",
"entity_name": "ACAD8",
"entity_type": "gene"
},
{
"created": "2022-10-06T21:09:18.914204+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACAD8 were changed from Isobutyryl-CoA dehydrogenase deficiency to Isobutyryl-CoA dehydrogenase deficiency MIM#611283",
"entity_name": "ACAD8",
"entity_type": "gene"
},
{
"created": "2022-10-06T21:09:05.501545+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACAD8 as Red List (low evidence)",
"entity_name": "ACAD8",
"entity_type": "gene"
},
{
"created": "2022-10-06T21:09:05.493156+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acad8 has been classified as Red List (Low Evidence).",
"entity_name": "ACAD8",
"entity_type": "gene"
},
{
"created": "2022-10-06T21:08:54.619670+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACAD8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Isobutyryl-CoA dehydrogenase deficiency MIM#611283; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACAD8",
"entity_type": "gene"
},
{
"created": "2022-10-06T21:07:03.703137+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACAD8 were changed from to Isobutyryl-CoA dehydrogenase deficiency MIM#611283",
"entity_name": "ACAD8",
"entity_type": "gene"
},
{
"created": "2022-10-06T19:09:50.750079+11:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG5 were changed from Cystic renal disease MONDO:0002473, ALG5-related; Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline to Polycystic kidney disease 7, MIM# 620056; Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline",
"entity_name": "ALG5",
"entity_type": "gene"
},
{
"created": "2022-10-06T19:09:34.856795+11:00",
"panel_name": "Polycystic liver disease",
"panel_id": 3274,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 7, MIM# 620056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ALG5",
"entity_type": "gene"
},
{
"created": "2022-10-06T19:09:18.829138+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 7, MIM# 620056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ALG5",
"entity_type": "gene"
},
{
"created": "2022-10-06T19:01:00.340728+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG5 were changed from Cystic renal disease MONDO:0002473, ALG5-related; Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline to Polycystic kidney disease 7, MIM# 620056; Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline",
"entity_name": "ALG5",
"entity_type": "gene"
},
{
"created": "2022-10-06T19:00:12.094248+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG5 were changed from Cystic renal disease MONDO:0002473, ALG5-related to Polycystic kidney disease 7, MIM# 620056",
"entity_name": "ALG5",
"entity_type": "gene"
},
{
"created": "2022-10-06T18:59:49.326745+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 7, MIM# 620056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ALG5",
"entity_type": "gene"
},
{
"created": "2022-10-06T18:17:27.345857+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GABBR1 as Red List (low evidence)",
"entity_name": "GABBR1",
"entity_type": "gene"
},
{
"created": "2022-10-06T18:17:27.334826+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabbr1 has been classified as Red List (Low Evidence).",
"entity_name": "GABBR1",
"entity_type": "gene"
},
{
"created": "2022-10-06T18:13:43.080754+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1693",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "edited their review of gene: GABBR1: Added comment: GABBR1 should be Red for Genetic Epilepsy panel as only 1 patient out of the 4 presented with seizures.\r\n\r\nIn addition PMID:36103875 stated it was surprising another individual in the study with p.Gly673Asp, causing a complete loss of GBR function did NOT suffer from seizures.; Changed rating: RED",
"entity_name": "GABBR1",
"entity_type": "gene"
},
{
"created": "2022-10-06T18:01:34.635308+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1693",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "changed review comment from: 4 de novo individuals with dev and language delays of varying severities associated with hyptonia, intellectual disability. 2 also with sleep disorder, and 1 with epilepsy.\r\nCommon phenotypes with differing disease severity and in associated neurodevelopmental disorders and comorbid psychiatric disorders.\r\n\r\n4.5yo with p.Glu368Asp suffered from seizures, however paper also stated it was surprising that another individual in the study with p.Gly673Asp, causing a complete loss of GBR function did NOT suffer from seizures. ; to: 4 de novo individuals with dev and language delays of varying severities associated with hyptonia, intellectual disability. 2 also with sleep disorder, and 1 with epilepsy.\r\nCommon phenotypes with differing disease severity and in associated neurodevelopmental disorders and comorbid psychiatric disorders.\r\n\r\nFunctional analyses reveal that all four variants produce dysfunctional receptors, supporting that these de novo variants are pathogenic. \r\n\r\n4.5yo with p.Glu368Asp suffered from seizures, however paper also stated it was surprising that another individual in the study with p.Gly673Asp, causing a complete loss of GBR function did NOT suffer from seizures. ",
"entity_name": "GABBR1",
"entity_type": "gene"
},
{
"created": "2022-10-06T18:00:29.168336+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1693",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "changed review comment from: 4 de novo individuals with dev and language delays of varying severities associated with hyptonia, intellectual disability. 2 also with sleep disorder, and 1 with epilepsy.\r\nCommon phenotypes with differing disease severity and in associated neurodevelopmental disorders and comorbid psychiatric disorders.; to: 4 de novo individuals with dev and language delays of varying severities associated with hyptonia, intellectual disability. 2 also with sleep disorder, and 1 with epilepsy.\r\nCommon phenotypes with differing disease severity and in associated neurodevelopmental disorders and comorbid psychiatric disorders.\r\n\r\n4.5yo with p.Glu368Asp suffered from seizures, however paper also stated it was surprising that another individual in the study with p.Gly673Asp, causing a complete loss of GBR function did NOT suffer from seizures. ",
"entity_name": "GABBR1",
"entity_type": "gene"
}
]
}