HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221303,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=678",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=676",
"results": [
{
"created": "2022-12-05T23:17:47.156807+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5079",
"user_name": "Shannon Nicolson",
"item_type": "entity",
"text": "reviewed gene: DOCK8: Rating: RED; Mode of pathogenicity: None; Publications: 18060736, 29930340, 29191242, 33455084, 32978894, 25435912; Phenotypes: MIM#614113 intellectual developmental disorder, autosomal dominant 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DOCK8",
"entity_type": "gene"
},
{
"created": "2022-12-05T22:59:28.095296+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5079",
"user_name": "Lorraine Skalicka",
"item_type": "entity",
"text": "reviewed gene: CDC42: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29925821, 26708094, 26386261, 29394990; Phenotypes: Takenouchi-Kosaki syndrome, Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2022-12-05T21:20:58.266034+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5079",
"user_name": "Christa Whelan",
"item_type": "entity",
"text": "reviewed gene: ALMS1: Rating: RED; Mode of pathogenicity: None; Publications: MIM # 203800, 27142762, 25846608, 18154657, 25296579, 17146208, 17940554, 22043170, 31889847, 2231654, 8418611, 8181924, 8556827, 9663233, 25864795, 8556827, 11941369.; Phenotypes: Alström Syndrome (multisystemic), characterized by progressive cone-rod dystrophy leading to blindness, sensorineural hearing loss, childhood obesity associated with hyperinsulinemia, and type 2 diabetes mellitus, Dilated cardiomyopathy occurs in approximately 70% of patients during infancy or adolescence, Renal failure, pulmonary, hepatic, and urologic dysfunction are often observed, and systemic fibrosis develops with age MIM# 203800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2022-12-05T21:18:09.007051+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5079",
"user_name": "Ken Lee Wan",
"item_type": "entity",
"text": "reviewed gene: BLM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2022-12-05T21:15:09.752646+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1154",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: TNNT3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 19309503; Phenotypes: Arthrogryposis, distal MIM#618435; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TNNT3",
"entity_type": "gene"
},
{
"created": "2022-12-05T21:10:17.626445+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1154",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28572266; Phenotypes: Li-Fraumeni syndrome MIM#151623; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2022-12-05T21:05:06.594540+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1154",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: TPM2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 27726070; Phenotypes: Arthrgryposis MIM#108120, Nemaline myopathy MIM#609285; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TPM2",
"entity_type": "gene"
},
{
"created": "2022-12-05T21:01:57.126510+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5079",
"user_name": "Jessica Wright",
"item_type": "entity",
"text": "reviewed gene: B3GLCT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301637, 16909395, 17032646, 18199743, 25544610; Phenotypes: Peters Plus Syndrome (MIM 261540), Peters anomaly, Growth retardation, Brachydactyly, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2022-12-05T20:59:11.089318+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1154",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: TPM3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 26307083,PMID: 35668205; Phenotypes: Myopathy 255310, 609284, 609284; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TPM3",
"entity_type": "gene"
},
{
"created": "2022-12-05T20:17:02.094675+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5079",
"user_name": "Gemma O'Farrell",
"item_type": "entity",
"text": "changed review comment from: Publications support gene-disease association. AP1S1 associated with MENDIK syndrome of which intellectual disability and global developmental delay are part of the phenotype. Functional data available.\r\n\r\nOMIM: 603531\r\n\r\nAP1S1 variant described in French-Canadian (Quebec) families with MENDIK (founder variant; splice variant, leading to PTC) different AS1P1 variant (insertion) described in Sephardic-Jewish child with mental retardation and a Turkish child with intellectual disability and MENDIK.; to: Publications support gene-disease association. AP1S1 associated with MENDIK syndrome of which intellectual disability and global developmental delay are part of the phenotype. Functional data available.\r\n\r\nOMIM: 603531\r\n\r\nAP1S1 variant described in French-Canadian (Quebec) families with MENDIK (founder variant; splice variant, leading to PTC) different AS1P1 variant (insertion) described in Sephardic-Jewish child with mental retardation and a Turkish child with intellectual disability and MENDIK.",
"entity_name": "AP1S1",
"entity_type": "gene"
},
{
"created": "2022-12-05T20:16:43.645658+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5079",
"user_name": "Gemma O'Farrell",
"item_type": "entity",
"text": "reviewed gene: AP1S1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30244301, 24754424, 19057675, 23423674; Phenotypes: MENDIK syndrome, mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratoderma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP1S1",
"entity_type": "gene"
},
{
"created": "2022-12-05T19:04:37.949339+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5079",
"user_name": "Jacqueline Montgomery",
"item_type": "entity",
"text": "reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32875576; Phenotypes: Farber lipogranulomatosis MIM #228000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2022-12-05T16:22:38.648793+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5079",
"user_name": "Sindhu V",
"item_type": "entity",
"text": "changed review comment from: More than 3 unrelated families with consistent phenotype of developmental delay, hypotonia , seizures, (acquired) microcephaly, vision impairment with/without elevated CK and cerebellar signs. Molecular evidence of biallelic involvement with missense, deletion and splice site variants as contributory mechanisms. Quantification of isoform consistent with CDG 1E pattern.; to: More than 3 unrelated families with consistent phenotype of developmental delay, hypotonia , seizures, (acquired) microcephaly, vision impairment with/without elevated CK and cerebellar signs. Molecular evidence of biallelic involvement with missense, deletion and splice site variants as contributory mechanisms. Quantification of isoform consistent with CDG 1E pattern.",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2022-12-05T16:22:10.326850+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5079",
"user_name": "Sindhu V",
"item_type": "entity",
"text": "reviewed gene: DPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10642602, 23856421, 16641202, 15669674, 10642597; Phenotypes: Acquired microcephaly, developmental delay, epilepsy, strabismus, hypotonia, cortical vision impairment, elevated creatine kinase, growth failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DPM1",
"entity_type": "gene"
},
{
"created": "2022-12-05T15:40:25.630046+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCKDK as ready",
"entity_name": "BCKDK",
"entity_type": "gene"
},
{
"created": "2022-12-05T15:40:25.617593+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bckdk has been classified as Green List (High Evidence).",
"entity_name": "BCKDK",
"entity_type": "gene"
},
{
"created": "2022-12-05T15:40:21.434383+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCKDK were changed from to Branched-chain ketoacid dehydrogenase kinase deficiency MIM#614923",
"entity_name": "BCKDK",
"entity_type": "gene"
},
{
"created": "2022-12-05T15:39:42.279939+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BCKDK were set to ",
"entity_name": "BCKDK",
"entity_type": "gene"
},
{
"created": "2022-12-05T15:39:02.792284+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BCKDK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCKDK",
"entity_type": "gene"
},
{
"created": "2022-12-05T15:38:28.142560+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least 5 unrelated families reported. ID if untreated. Treatment available.; to: At least 5 unrelated families reported. ID/autism/seizures are part of the phenotype.\r\n\r\nTreatment available: Branched-chain amino acid supplementation: improves psychomotor/cognitive development/IQ; improves behavioural/psychiatric disturbance(s); improves systemic manifestations",
"entity_name": "BCKDK",
"entity_type": "gene"
},
{
"created": "2022-12-05T15:37:38.827508+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BCKDK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Branched-chain ketoacid dehydrogenase kinase deficiency MIM#614923; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCKDK",
"entity_type": "gene"
},
{
"created": "2022-12-05T15:35:59.732940+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AHI1 as ready",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2022-12-05T15:35:59.720831+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ahi1 has been classified as Green List (High Evidence).",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2022-12-05T15:35:54.013447+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AHI1 were changed from to Joubert Syndrome 3 OMIM #608629",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2022-12-05T15:35:16.654801+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AHI1 were set to ",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2022-12-05T15:34:36.791611+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AHI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2022-12-05T15:33:39.880374+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP41 as ready",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2022-12-05T15:33:39.861911+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep41 has been classified as Green List (High Evidence).",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2022-12-05T15:33:35.365141+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP41 were changed from to Joubert syndrome 15, MIM# 614464",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2022-12-05T15:32:49.843688+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP41 were set to ",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2022-12-05T15:28:09.039576+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP41 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2022-12-05T15:26:24.240011+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DAG1 as ready",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2022-12-05T15:26:24.223105+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dag1 has been classified as Green List (High Evidence).",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2022-12-05T15:26:17.988182+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DAG1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2022-12-05T15:25:40.623760+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DAG1 were set to ",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2022-12-05T15:22:07.772437+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DAG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2022-12-05T15:21:30.260844+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2022-12-05T15:14:13.586005+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5067",
"user_name": "Savige Judy",
"item_type": "entity",
"text": "reviewed gene: BCKDK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:16875466, PMID: 22956686; Phenotypes: Intellectual disability, autism, epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "BCKDK",
"entity_type": "gene"
},
{
"created": "2022-12-05T13:23:48.298215+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5067",
"user_name": "Caleb Cartagena",
"item_type": "entity",
"text": "reviewed gene: AHI1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15322546, 16453322, 21937992; Phenotypes: Joubert Syndrome 3 OMIM #608629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2022-12-05T10:44:50.093900+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5067",
"user_name": "Mitchell O'Brien",
"item_type": "entity",
"text": "reviewed gene: CEP41: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22246503; Phenotypes: Joubert syndrome 15, MIM# 614464; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2022-12-05T09:48:53.173220+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5067",
"user_name": "Nicholas Clark",
"item_type": "entity",
"text": "reviewed gene: DAG1: Rating: AMBER; Mode of pathogenicity: None; Publications: (PMID: 25934851, 29337005, 24052401, 21388311, 25503980, 30450679, 12140559, 21388311); Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DAG1",
"entity_type": "gene"
},
{
"created": "2022-12-04T17:53:29.046075+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1154",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: HCFC1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301503, PMID: 26893841, PMID: 35337626; Phenotypes: nonimmune hydrops, cardiomyopathy, intrauterine growth restriction, microcephaly, global dev delay, ID, seizures; 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": "HCFC1",
"entity_type": "gene"
},
{
"created": "2022-12-04T17:36:48.899834+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1154",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: HADH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16176262, PMID: 20936362; Phenotypes: hypoketotic hypoglycaemia, hyperinsulinism, fatty liver; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2022-12-04T17:07:54.681063+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1154",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: GYS2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33489759; Phenotypes: fasting hypoglycaemia, hepatomegaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GYS2",
"entity_type": "gene"
},
{
"created": "2022-12-04T17:00:54.433121+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1154",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31661765, PMID: 32063397; Phenotypes: facial dysmorphisms, skeletal deformities, cardiac valve involvement, ocular involvement, motor delay, developmental delay, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2022-12-04T16:51:15.769478+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1154",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: GRHPR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301742; Phenotypes: nephrolithiasis, haematuria, renal colic, obstruction of the urinary tract, Nephrocalcinosis, End-stage renal disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRHPR",
"entity_type": "gene"
},
{
"created": "2022-12-04T16:06:37.860434+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1154",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: GOT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31422819, PMID: 33990986; Phenotypes: neonatal hypotonia, feeding difficulties, global developmental delay, severe ID, infantile seizures, absent speech, spastic tetraplegia, microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GOT2",
"entity_type": "gene"
},
{
"created": "2022-12-04T15:59:46.660697+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1154",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: GNS: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31536183; Phenotypes: ID, Coarse facies, Thick hair and hirsutism, Hepatosplenomegaly, Joint stiffness, Hearing loss, Frequent upper-respiratory and ear infections, Inguinal and/or umbilical hernias; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNS",
"entity_type": "gene"
},
{
"created": "2022-12-04T15:55:31.202526+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1154",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: GNPTG: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301784; Phenotypes: Growth rate deceleration, Joint stiffness of the fingers, shoulders, and hips, Gradual mild coarsening of facial features, Genu valgum, scoliosis, hyperlordosis, mitral valve thickening; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNPTG",
"entity_type": "gene"
},
{
"created": "2022-12-02T13:04:24.211851+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP2S1 as ready",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2022-12-02T13:04:24.190291+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap2s1 has been classified as Green List (High Evidence).",
"entity_name": "AP2S1",
"entity_type": "gene"
},
{
"created": "2022-12-02T13:04:16.743556+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMMECR1 as ready",
"entity_name": "AMMECR1",
"entity_type": "gene"
},
{
"created": "2022-12-02T13:04:16.731926+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ammecr1 has been classified as Green List (High Evidence).",
"entity_name": "AMMECR1",
"entity_type": "gene"
},
{
"created": "2022-12-02T13:04:09.303915+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALPL as ready",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2022-12-02T13:04:09.291723+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alpl has been classified as Green List (High Evidence).",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2022-12-02T13:03:52.712683+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AIRE as ready",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2022-12-02T13:03:52.700242+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aire has been classified as Green List (High Evidence).",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2022-12-02T13:03:35.210184+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGXT as ready",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2022-12-02T13:03:35.190985+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agxt has been classified as Green List (High Evidence).",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2022-12-02T12:57:14.545105+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-12-02T12:40:50.530247+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.214",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: WT1: Rating: GREEN; Mode of pathogenicity: None; Publications: Denys-Drash syndrome, MIM# 194080, Frasier syndrome, MIM#136680, Wilms tumor, type 1, MIM#194070, Nephrotic syndrome, type 4, MIM#256370; Phenotypes: Denys-Drash syndrome, MIM# 194080, Frasier syndrome, MIM#136680, Wilms tumor, type 1, MIM#194070, Nephrotic syndrome, type 4, MIM#256370; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2022-12-02T11:44:41.151144+11:00",
"panel_name": "Kidneyome_SuperPanel",
"panel_id": 275,
"panel_version": "7.288",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Changed child panels to: Renal Ciliopathies and Nephronophthisis; Renal Tubulointerstitial Disease; Haematuria_Alport; Proteinuria; Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic; Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic; Renal Macrocystic Disease; Atypical Haemolytic Uraemic Syndrome_MPGN; Renal Amyloidosis; Renal Tubulopathies and related disorders\nPanel types changed to Superpanel; Victorian Clinical Genetics Services; KidGen; Royal Melbourne Hospital; Genetic Health Queensland",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-12-02T11:33:57.081004+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.18",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Panel status changed from internal to public",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-12-02T11:33:13.778439+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.17",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SLC3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25964309; Phenotypes: Cystinuria, MIM# 220100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC3A1",
"entity_type": "gene"
},
{
"created": "2022-12-02T11:32:08.503213+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.17",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SLC6A19: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15286788; Phenotypes: Hartnup disorder, MIM# 234500, Hyperglycinuria, MIM# 138500, Iminoglycinuria, MIM# 242600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC6A19",
"entity_type": "gene"
},
{
"created": "2022-12-02T11:30:53.591492+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.17",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SLC4A4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29914390, 10545938, 11274232, 35260236, 33439394; Phenotypes: Renal tubular acidosis, proximal, with ocular abnormalities MIM#604278, hemiplegic migraine; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC4A4",
"entity_type": "gene"
},
{
"created": "2022-12-02T11:29:20.069117+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.17",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SLC36A2 as Green List (high evidence)",
"entity_name": "SLC36A2",
"entity_type": "gene"
},
{
"created": "2022-12-02T11:29:20.057196+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.17",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: slc36a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC36A2",
"entity_type": "gene"
},
{
"created": "2022-12-02T11:29:12.512487+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.16",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SLC36A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19033659, 26141664, 27604308; Phenotypes: Hyperglycinuria MIM#138500, Iminoglycinuria, digenic MIM#242600, Disorders of amino acid transport; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC36A2",
"entity_type": "gene"
},
{
"created": "2022-12-02T11:24:31.097914+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.16",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SLC1A1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 21123949; Phenotypes: Dicarboxylic aminoaciduria, MIM# 222730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC1A1",
"entity_type": "gene"
},
{
"created": "2022-12-02T11:23:35.306110+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.16",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SLC2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30950137, 22145468; Phenotypes: Fanconi-Bickel syndrome, MIM #227810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2022-12-02T11:21:12.913632+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.16",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SLC7A9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10471498; Phenotypes: Cystinuria, MIM# 220100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC7A9",
"entity_type": "gene"
},
{
"created": "2022-12-02T11:19:39.704466+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.16",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 8385748, 11591859; Phenotypes: Hyperkalemic periodic paralysis, type 2, MIM# 170500, Hypokalemic periodic paralysis, type 2, MIM# 613345; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2022-12-02T11:18:16.322083+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.16",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28613767, 33673160; Phenotypes: Fabry disease (MIM# 301500); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2022-12-02T11:09:40.718855+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.15",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: CACNA1S: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11591859; Phenotypes: Hypokalemic periodic paralysis, type 1, MIM# 170400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2022-12-02T11:05:51.030655+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.15",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: CA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34624559, 33555497, 12566520, 7627193; Phenotypes: Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CA2",
"entity_type": "gene"
},
{
"created": "2022-12-01T19:50:19.415085+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BOLA3 as ready",
"entity_name": "BOLA3",
"entity_type": "gene"
},
{
"created": "2022-12-01T19:50:19.400886+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bola3 has been classified as Green List (High Evidence).",
"entity_name": "BOLA3",
"entity_type": "gene"
},
{
"created": "2022-12-01T18:51:18.438694+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BOLA3 were changed from to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2, OMIM #614299)",
"entity_name": "BOLA3",
"entity_type": "gene"
},
{
"created": "2022-12-01T18:51:06.659179+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BOLA3 was added\ngene: BOLA3 was added to Regression. Sources: Literature\nMode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BOLA3 were set to 24334290; 29654549; 21944046; 22562699; 26741492; 24334290\nPhenotypes for gene: BOLA3 were set to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2, OMIM #614299)\nReview for gene: BOLA3 was set to GREEN\nAdded comment: At least 5 unrelated families reported. Clinical course is characterised by regression. \nSources: Literature",
"entity_name": "BOLA3",
"entity_type": "gene"
},
{
"created": "2022-12-01T18:50:22.947710+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BOLA3 were set to ",
"entity_name": "BOLA3",
"entity_type": "gene"
},
{
"created": "2022-12-01T18:49:14.267846+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BOLA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BOLA3",
"entity_type": "gene"
},
{
"created": "2022-12-01T18:48:26.868048+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2, OMIM #614299); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BOLA3",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:32:20.476127+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5064",
"user_name": "Layla Zhu",
"item_type": "entity",
"text": "reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24334290, PMID: 29654549, PMID: 21944046, PMID: 22562699, PMID: 26741492, PMID: 24334290; Phenotypes: multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2, OMIM #614299); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BOLA3",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:45.366856+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC9A3R1 was added\ngene: SLC9A3R1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Red\nMode of inheritance for gene: SLC9A3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC9A3R1 were set to 18784102\nPhenotypes for gene: SLC9A3R1 were set to Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287",
"entity_name": "SLC9A3R1",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:45.301968+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC26A1 was added\ngene: SLC26A1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Red\nMode of inheritance for gene: SLC26A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SLC26A1 were set to 27125215; 20160351; 30383413; 27210743\nPhenotypes for gene: SLC26A1 were set to Nephrolithiasis, calcium oxalate, MIM#167030",
"entity_name": "SLC26A1",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:45.236747+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EGFR was added\ngene: EGFR was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Red\nMode of inheritance for gene: EGFR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EGFR were set to 24691054\nPhenotypes for gene: EGFR were set to Inflammatory skin and bowel disease, neonatal, 2; OMIM # 616069",
"entity_name": "EGFR",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:45.137016+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EGF was added\ngene: EGF was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Red\nMode of inheritance for gene: EGF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EGF were set to 17671655\nPhenotypes for gene: EGF were set to Hypomagnesemia 4, renal, MIM#611718",
"entity_name": "EGF",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:45.046072+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP6V1C2 was added\ngene: ATP6V1C2 was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Red\nMode of inheritance for gene: ATP6V1C2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP6V1C2 were set to 31959358\nPhenotypes for gene: ATP6V1C2 were set to Distal renal tubular acidosis",
"entity_name": "ATP6V1C2",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:44.949323+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC36A2 was added\ngene: SLC36A2 was added to Renal Tubulopathies and related disorders. Sources: Literature,Victorian Clinical Genetics Services,Expert Review Amber\nMode of inheritance for gene: SLC36A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SLC36A2 were set to 26141664; 19033659; 27604308\nPhenotypes for gene: SLC36A2 were set to Iminoglycinuria, digenic MIM#242600; Hyperglycinuria MIM#138500; Disorders of amino acid transport",
"entity_name": "SLC36A2",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:44.886578+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC1A1 was added\ngene: SLC1A1 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Amber\nMode of inheritance for gene: SLC1A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC1A1 were set to 21123949\nPhenotypes for gene: SLC1A1 were set to Dicarboxylic aminoaciduria, MIM# 222730",
"entity_name": "SLC1A1",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:44.812958+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFAF6 was added\ngene: NDUFAF6 was added to Renal Tubulopathies and related disorders. Sources: Expert Review Amber,Expert list\nMode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFAF6 were set to 27466185\nPhenotypes for gene: NDUFAF6 were set to Fanconi renotubular syndrome 5, MIM#\t618913",
"entity_name": "NDUFAF6",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:44.752716+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KL was added\ngene: KL was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Amber\nMode of inheritance for gene: KL was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: KL were set to 17710231; 31013726; 9363890\nPhenotypes for gene: KL were set to Hyperphosphatemia; Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994",
"entity_name": "KL",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:44.685780+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FXYD2 was added\ngene: FXYD2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Amber\nMode of inheritance for gene: FXYD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FXYD2 were set to 17980699; 18448590; 12763862; 25765846; 27014088; 11062458\nPhenotypes for gene: FXYD2 were set to Renal hypomagnesemia 2 MONDO:0007937",
"entity_name": "FXYD2",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:44.619026+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EHHADH was added\ngene: EHHADH was added to Renal Tubulopathies and related disorders. Sources: Expert Review Amber,KidGen_Tubulopathies v38.1.0\nMode of inheritance for gene: EHHADH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EHHADH were set to 24401050\nPhenotypes for gene: EHHADH were set to Fanconi renotubular syndrome 3, MIM#615605",
"entity_name": "EHHADH",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:44.558257+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLCNKA was added\ngene: CLCNKA was added to Renal Tubulopathies and related disorders. Sources: Expert Review Amber,KidGen_Tubulopathies v38.1.0\nMode of inheritance for gene: CLCNKA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLCNKA were set to 18310267; 15044642\nPhenotypes for gene: CLCNKA were set to Bartter syndrome, type 4b, digenic; OMIM #613090",
"entity_name": "CLCNKA",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:44.495464+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADCY10 was added\ngene: ADCY10 was added to Renal Tubulopathies and related disorders. Sources: Expert Review Amber,Expert list\nMode of inheritance for gene: ADCY10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ADCY10 were set to 11932268\nPhenotypes for gene: ADCY10 were set to Hypercalciuria, absorptive, susceptibility to, MIM#143870",
"entity_name": "ADCY10",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:44.428675+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: XDH was added\ngene: XDH was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: XDH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: XDH were set to 32071838\nPhenotypes for gene: XDH were set to Xanthinuria, type I (MIM#278300)",
"entity_name": "XDH",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:44.364228+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WNK4 was added\ngene: WNK4 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green\nMode of inheritance for gene: WNK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WNK4 were set to 31044551; 22266938\nPhenotypes for gene: WNK4 were set to Pseudohypoaldosteronism, type IIB, MIM# 614491",
"entity_name": "WNK4",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:44.298320+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WNK1 was added\ngene: WNK1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green\nMode of inheritance for gene: WNK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WNK1 were set to 11498583; 32790646\nPhenotypes for gene: WNK1 were set to Pseudohypoaldosteronism 2C (PHA2C), MIM#614492",
"entity_name": "WNK1",
"entity_type": "gene"
}
]
}