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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=421",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=419",
"results": [
{
"created": "2024-07-24T14:49:56.427718+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: SPATA5.",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2024-07-24T14:48:10.756825+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: ADSL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25112391, 1302001, 22180458, 18524658; Phenotypes: Adenylosuccinase deficiency MIM#103050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2024-07-24T13:08:55.717438+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACADM were set to 11263545; 35076175",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2024-07-24T13:08:23.220880+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACADM as Green List (high evidence)",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2024-07-24T13:08:23.204527+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acadm has been classified as Green List (High Evidence).",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2024-07-24T11:48:21.919161+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.356",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: ACADM: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38843839; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2024-07-24T11:39:01.795420+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.356",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: CYFIP2 was added\ngene: CYFIP2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: CYFIP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CYFIP2 were set to PMID: 38843839\nPhenotypes for gene: CYFIP2 were set to Developmental and epileptic encephalopathy 65, MIM#618008\nReview for gene: CYFIP2 was set to RED\nAdded comment: One individual with a complex neurodevelopmental disorder including cerebral palsy reported with a de novo missense variant in CYFIP2 (PMID: 38843839). \nSources: Literature",
"entity_name": "CYFIP2",
"entity_type": "gene"
},
{
"created": "2024-07-24T11:32:36.290781+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.356",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: DHPS was added\ngene: DHPS was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: DHPS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHPS were set to PMID: 30661771; 38843839\nPhenotypes for gene: DHPS were set to Neurodevelopmental disorder with seizures and speech and walking impairment (NEDSSWI), MIM#618480\nReview for gene: DHPS was set to AMBER\nAdded comment: NEDSSWI is an autosomal recessive disorder with onset in infancy. In the first case series of 5 patients from 4 families, pregnancy complications including pregnancy-induced hypertension, preeclampsia, oligohydramnios, low blood pressure and premature birth were reported (PMID: 30661771). Patients show global developmental delay and hypotonia, hypertonia, spasticity, or poor coordination. 2 individuals have been reported with a cerebral palsy diagnosis (PMID: 30661771;38843839). \nSources: Literature",
"entity_name": "DHPS",
"entity_type": "gene"
},
{
"created": "2024-07-24T11:16:32.605607+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.356",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: GFAP was added\ngene: GFAP was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GFAP were set to PMID: 38843839\nPhenotypes for gene: GFAP were set to Alexander disease, MIM#203450\nReview for gene: GFAP was set to RED\nAdded comment: One individual with a complex neurodevelopmental disorder including cerebral palsy reported with a de novo missense variant in GFAP (PMID: 38843839). Alexander disease has variable onset and progression, with frequent spasticity and ataxia reported. \nSources: Literature",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2024-07-24T11:04:22.826813+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.356",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: GCH1 was added\ngene: GCH1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: GCH1 were set to PMID: 21935284; 1899474; 33875303; 34908184\nPhenotypes for gene: GCH1 were set to Dystonia, DOPA-responsive, MIM#128230; Hyperphenylalaninemia, BH4-deficient, B, MIM#233910\nReview for gene: GCH1 was set to GREEN\nAdded comment: Mutations in the GTP cyclohydrolase I gene (GCH1) are associated with early onset dopa-responsive dystonia with or without hyperphenylalaninemia which is frequently clinically diagnosed as cerebral palsy (PMID: 21935284; 1899474; 33875303; 34908184). \nSources: Literature",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2024-07-24T09:00:08.023091+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPATA5 as ready",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2024-07-24T09:00:08.015099+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: New HGNC approved name is AFG2A",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2024-07-24T09:00:07.946518+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spata5 has been classified as Green List (High Evidence).",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2024-07-24T08:59:46.122873+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: SPATA5.",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2024-07-24T08:59:31.780491+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPATA5 as ready",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2024-07-24T08:59:31.772690+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: New HGNC approved name is AFG2A",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2024-07-24T08:59:31.705735+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spata5 has been classified as Green List (High Evidence).",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2024-07-24T08:59:15.344592+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: SPATA5.",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2024-07-24T08:58:55.194876+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPATA5 as ready",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2024-07-24T08:58:55.186933+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: New HGNC approved name is AFG2A",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2024-07-24T08:58:55.111514+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spata5 has been classified as Green List (High Evidence).",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2024-07-24T08:58:37.389977+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: SPATA5.",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2024-07-24T08:58:26.178238+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPATA5 as ready",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2024-07-24T08:58:26.171361+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: New HGNC approved name is AFG2A",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2024-07-24T08:58:26.085758+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spata5 has been classified as Green List (High Evidence).",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2024-07-24T08:58:09.992561+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: SPATA5.",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2024-07-24T08:56:12.089740+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPATA5 as ready",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2024-07-24T08:56:12.083514+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: New gene name is AFG2A",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2024-07-24T08:56:12.036939+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spata5 has been classified as Green List (High Evidence).",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2024-07-24T08:55:46.045101+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: SPATA5.",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2024-07-23T17:58:34.150711+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Lana Giameos",
"item_type": "entity",
"text": "reviewed gene: AGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 1703489, 1904874, 8064811, 8946839; Phenotypes: Aspartylglucosaminuria, MIM# 208400, MONDO:0008830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2024-07-23T16:56:44.043783+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "commented on gene: AGL: Current Treatment high-fat, high-protein and low-carbohydrate diet with cornstarch supplementation",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2024-07-23T13:13:57.767739+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.43",
"user_name": "Jane Lin",
"item_type": "entity",
"text": "gene: PROC was added\ngene: PROC was added to Bleeding and Platelet Disorders. Sources: Expert list\nMode of inheritance for gene: PROC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: PROC were set to PMID: 2437584; PMID: 7670104; PMID: 10942114; PMID: 28265398\nPhenotypes for gene: PROC were set to THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT # 176860; THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, # 612304\nReview for gene: PROC was set to GREEN\ngene: PROC was marked as current diagnostic\nAdded comment: Has well established gene-disease association with thrombosis. Biallelic inheritance is rare and there is evidence it is more severe but data is complicated by findings that some patients also have changes in Factor V Leiden so have not selected the option where biallelic inheritance is more severe. \nSources: Expert list",
"entity_name": "PROC",
"entity_type": "gene"
},
{
"created": "2024-07-23T12:40:58.346998+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.43",
"user_name": "Jane Lin",
"item_type": "entity",
"text": "gene: PIGA was added\ngene: PIGA was added to Bleeding and Platelet Disorders. Sources: Expert list\nMode of inheritance for gene: PIGA was set to Unknown\nPublications for gene: PIGA were set to PMID: 9019395; PMID: 28516949\nPhenotypes for gene: PIGA were set to PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 OMIM# 300818\nReview for gene: PIGA was set to RED\ngene: PIGA was marked as current diagnostic\nAdded comment: PIGA variants linked to Paroxysmal nocturnal hemoglobinuria (PNH), clinical features which include thrombosis, but as somatic changes. \nSources: Expert list",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2024-07-22T23:12:45.482971+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: ATRX: Rating: GREEN; Mode of pathogenicity: None; Publications: 16813605, 16955409, 15350606, 23681356; Phenotypes: Alpha thalassemia X-linked intellectual disability syndrome MONDO:0010519; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2024-07-22T21:20:40.029676+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Clare Hunt",
"item_type": "entity",
"text": "reviewed gene: AARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 8, 614096 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AARS2",
"entity_type": "gene"
},
{
"created": "2024-07-19T17:04:47.055037+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: IL7R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency 104 MIM# 608971; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL7R",
"entity_type": "gene"
},
{
"created": "2024-07-19T17:02:32.986076+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy with progressive myoclonic epilepsy, MIM#159950, Farber lipogranulomatosis, MIM#; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASAH1",
"entity_type": "gene"
},
{
"created": "2024-07-19T17:02:26.040040+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: IL2RG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency, X-linked MIM# 300400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "IL2RG",
"entity_type": "gene"
},
{
"created": "2024-07-19T17:00:50.753004+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: IL1RN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Interleukin 1 receptor antagonist deficiency, MIM# 612852, Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis, MIM# 61285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL1RN",
"entity_type": "gene"
},
{
"created": "2024-07-19T16:57:55.347787+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: CRB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11231775, 11389483, 16543197; Phenotypes: Leber congenital amaurosis 8 MIM#613835; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRB1",
"entity_type": "gene"
},
{
"created": "2024-07-19T16:54:07.195370+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 52, autosomal recessive, MIM#614067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2024-07-19T16:53:16.801784+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: HSD17B4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: D-bifunctional protein deficiency, AR (MIM#261515); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2024-07-19T16:48:34.281668+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: HPSE2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25145936, 23313374, 33558177; Phenotypes: Urofacial syndrome 1 MIM#236730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPSE2",
"entity_type": "gene"
},
{
"created": "2024-07-19T16:48:09.765303+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 50, autosomal recessive (MIM#612936); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2024-07-19T16:45:46.341688+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: ANTXR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GAPO syndrome (MIM#230740); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2024-07-19T16:41:38.567980+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: HPGD: Rating: GREEN; Mode of pathogenicity: None; Publications: 20406614, 32282352, 31878983, 29282707; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal recessive 1 MIM#259100, Cranioosteoarthropathy MIM#259100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPGD",
"entity_type": "gene"
},
{
"created": "2024-07-19T16:37:07.934009+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: ALOXE3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 3 (MIM#606545); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALOXE3",
"entity_type": "gene"
},
{
"created": "2024-07-19T16:25:50.264771+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sjogren-Larsson syndrome (MIM#270200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2024-07-19T16:21:41.792075+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: VLCAD deficiency (MIM#201475); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2024-07-19T16:06:29.477822+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: GFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 1, MIM#609060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GFM1",
"entity_type": "gene"
},
{
"created": "2024-07-19T15:29:28.714018+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: CD81: Rating: AMBER; Mode of pathogenicity: None; Publications: 20237408, 35849269; Phenotypes: Immunodeficiency, common variable, 6, OMIM:613496; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD81",
"entity_type": "gene"
},
{
"created": "2024-07-19T15:18:40.986662+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRNKL1 as ready",
"entity_name": "CRNKL1",
"entity_type": "gene"
},
{
"created": "2024-07-19T15:18:40.973549+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crnkl1 has been classified as Green List (High Evidence).",
"entity_name": "CRNKL1",
"entity_type": "gene"
},
{
"created": "2024-07-19T15:18:31.263170+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRNKL1 as Green List (high evidence)",
"entity_name": "CRNKL1",
"entity_type": "gene"
},
{
"created": "2024-07-19T15:18:31.246791+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crnkl1 has been classified as Green List (High Evidence).",
"entity_name": "CRNKL1",
"entity_type": "gene"
},
{
"created": "2024-07-19T15:17:38.671756+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.9",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: C1QA: Rating: GREEN; Mode of pathogenicity: None; Publications: 21654842, 9225968, 9590289; Phenotypes: C1q deficiency, MIM# 613652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C1QA",
"entity_type": "gene"
},
{
"created": "2024-07-19T15:16:08.346465+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DCC were set to 20431009; 31697046; 21242494; 28250454; 28250456; 25763452",
"entity_name": "DCC",
"entity_type": "gene"
},
{
"created": "2024-07-19T15:15:34.414428+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: DCC: Third family reported with biallelic variants and scoliosis, PMID 33141514; novel homozygous frameshift variant (p.Asn800Lysfs*11) in three individuals.",
"entity_name": "DCC",
"entity_type": "gene"
},
{
"created": "2024-07-19T15:13:36.704934+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCC as ready",
"entity_name": "DCC",
"entity_type": "gene"
},
{
"created": "2024-07-19T15:13:36.691861+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dcc has been classified as Green List (High Evidence).",
"entity_name": "DCC",
"entity_type": "gene"
},
{
"created": "2024-07-19T15:12:05.512532+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DCC were changed from Gaze palsy, familial horizontal, with progressive scoliosis, 2, MIM#\t617542 to Gaze palsy, familial horizontal, with progressive scoliosis, 2, MIM#\t617542",
"entity_name": "DCC",
"entity_type": "gene"
},
{
"created": "2024-07-19T15:11:14.723671+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DCC were changed from Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542; Gaze palsy, familial horizontal, with progressive scoliosis, 2\t617542 to Gaze palsy, familial horizontal, with progressive scoliosis, 2, MIM#\t617542",
"entity_name": "DCC",
"entity_type": "gene"
},
{
"created": "2024-07-19T15:07:58.651207+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DCC were set to 28250456",
"entity_name": "DCC",
"entity_type": "gene"
},
{
"created": "2024-07-19T15:07:07.887156+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DCC as Green List (high evidence)",
"entity_name": "DCC",
"entity_type": "gene"
},
{
"created": "2024-07-19T15:07:07.859480+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dcc has been classified as Green List (High Evidence).",
"entity_name": "DCC",
"entity_type": "gene"
},
{
"created": "2024-07-19T15:04:14.818460+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC7A5 as ready",
"entity_name": "SLC7A5",
"entity_type": "gene"
},
{
"created": "2024-07-19T15:04:14.788746+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc7a5 has been classified as Red List (Low Evidence).",
"entity_name": "SLC7A5",
"entity_type": "gene"
},
{
"created": "2024-07-19T15:03:57.568359+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC7A5 as Red List (low evidence)",
"entity_name": "SLC7A5",
"entity_type": "gene"
},
{
"created": "2024-07-19T15:03:57.555752+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc7a5 has been classified as Red List (Low Evidence).",
"entity_name": "SLC7A5",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:54:25.207321+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC6A20 as ready",
"entity_name": "SLC6A20",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:54:25.181884+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a20 has been classified as Red List (Low Evidence).",
"entity_name": "SLC6A20",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:54:19.845714+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC6A20 as Red List (low evidence)",
"entity_name": "SLC6A20",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:54:19.826239+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a20 has been classified as Red List (Low Evidence).",
"entity_name": "SLC6A20",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:54:05.804745+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A22 as ready",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:54:05.786675+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a22 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:53:56.107790+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC25A22 as Green List (high evidence)",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:53:56.091125+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a22 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:53:43.198976+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A13 as ready",
"entity_name": "SLC25A13",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:53:43.185949+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a13 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A13",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:53:35.959735+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC25A13 as Green List (high evidence)",
"entity_name": "SLC25A13",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:53:35.946702+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a13 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A13",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:53:20.299317+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC7A5 as ready",
"entity_name": "SLC7A5",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:53:20.283788+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc7a5 has been classified as Red List (Low Evidence).",
"entity_name": "SLC7A5",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:53:06.578674+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC7A5 as Red List (low evidence)",
"entity_name": "SLC7A5",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:53:06.561686+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc7a5 has been classified as Red List (Low Evidence).",
"entity_name": "SLC7A5",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:52:45.931399+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: XPNPEP3 as ready",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:52:45.914540+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xpnpep3 has been classified as Green List (High Evidence).",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:52:40.220014+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: XPNPEP3 as Green List (high evidence)",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:52:40.202659+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xpnpep3 has been classified as Green List (High Evidence).",
"entity_name": "XPNPEP3",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:52:23.834732+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC1A4 as ready",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:52:23.819715+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc1a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:52:12.571214+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC1A4 as Green List (high evidence)",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:52:12.559230+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc1a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:44:16.937012+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PYCR2 as ready",
"entity_name": "PYCR2",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:44:16.907364+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pycr2 has been classified as Green List (High Evidence).",
"entity_name": "PYCR2",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:44:12.466844+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PYCR2 as Green List (high evidence)",
"entity_name": "PYCR2",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:44:12.446265+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pycr2 has been classified as Green List (High Evidence).",
"entity_name": "PYCR2",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:43:53.923112+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEPD as ready",
"entity_name": "PEPD",
"entity_type": "gene"
},
{
"created": "2024-07-19T14:43:53.907441+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pepd has been classified as Green List (High Evidence).",
"entity_name": "PEPD",
"entity_type": "gene"
}
]
}