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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=287",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=285",
"results": [
{
"created": "2025-03-13T14:41:35.829698+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1580",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: l1cam has been classified as Green List (High Evidence).",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:41:32.601146+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1580",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: L1CAM were changed from MASA syndrome, 303350 (3) to MASA syndrome, MIM#303350; Hydrocephalus, congenital, X-linked, MIM#307000",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:41:16.415419+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1579",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: L1CAM were set to ",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:40:48.344641+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1578",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: LIFR as ready",
"entity_name": "LIFR",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:40:48.337273+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1578",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: lifr has been classified as Green List (High Evidence).",
"entity_name": "LIFR",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:40:40.754531+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1578",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: LIFR were set to ",
"entity_name": "LIFR",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:18:52.032078+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1577",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: ITGA6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional 6, with pyloric atresia (MIM#619817); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITGA6",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:17:15.121906+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1577",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: IER3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IER3IP1",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:12:10.403366+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1577",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HMG-CoA lyase deficiency, MIM# 246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:05:17.130388+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1577",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: HBB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sickle cell anaemia, MIM# 603903; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HBB",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:04:20.604085+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1577",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: SAMD9: Rating: AMBER; Mode of pathogenicity: None; Publications: 37830462; Phenotypes: MIRAGE syndrome (MIM#617053), Monosomy 7 myelodysplasia and leukemia syndrome 2 (MIM#619041), Tumoral calcinosis, familial, normophosphatemic (MIM#610455); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:03:08.725951+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1577",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: LIPA as ready",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:03:08.713307+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1577",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: lipa has been classified as Green List (High Evidence).",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:02:49.709822+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1577",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: LIPA were changed from Cholesteryl ester storage disease, 278000 (3) to Wolman disease, MIM#620151; Cholesteryl ester storage disease, MIM#278000",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:02:15.559020+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1576",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LCHAD deficiency MIM#609016, Mitochondrial trifunctional protein deficiency 1 MIM#609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:01:48.114701+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1576",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: LIPA were set to ",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:00:53.286569+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1575",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: APC2 as ready",
"entity_name": "APC2",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:00:53.281588+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1575",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Upgrade to green at review",
"entity_name": "APC2",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:00:53.245270+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1575",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: apc2 has been removed from the panel.",
"entity_name": "APC2",
"entity_type": "gene"
},
{
"created": "2025-03-13T14:00:24.939364+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1575",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Tag for review tag was added to gene: APC2.",
"entity_name": "APC2",
"entity_type": "gene"
},
{
"created": "2025-03-13T13:59:06.121695+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1575",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: OXCT1 as ready",
"entity_name": "OXCT1",
"entity_type": "gene"
},
{
"created": "2025-03-13T13:59:06.116673+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1575",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Green at review",
"entity_name": "OXCT1",
"entity_type": "gene"
},
{
"created": "2025-03-13T13:59:06.077558+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1575",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: oxct1 has been removed from the panel.",
"entity_name": "OXCT1",
"entity_type": "gene"
},
{
"created": "2025-03-13T13:58:47.837435+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1575",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: OXCT1 were changed from to Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050",
"entity_name": "OXCT1",
"entity_type": "gene"
},
{
"created": "2025-03-13T13:58:36.683286+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1574",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: OXCT1 were set to ",
"entity_name": "OXCT1",
"entity_type": "gene"
},
{
"created": "2025-03-13T13:57:49.391048+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1573",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: GNPTG: Rating: GREEN; Mode of pathogenicity: None; Publications: 10712439, 19370764:19659762, 33507475, 33023972, 32651481; Phenotypes: Mucolipidosis III gamma, MIM# 252605; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNPTG",
"entity_type": "gene"
},
{
"created": "2025-03-13T13:54:18.337109+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1573",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: TMEM5 as ready",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2025-03-13T13:54:18.330289+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1573",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: tmem5 has been classified as Green List (High Evidence).",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2025-03-13T13:54:10.283064+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1573",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: TMEM5 were set to ",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2025-03-13T13:48:10.256492+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1572",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: TNNT1 as ready",
"entity_name": "TNNT1",
"entity_type": "gene"
},
{
"created": "2025-03-13T13:48:10.249793+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1572",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: tnnt1 has been classified as Green List (High Evidence).",
"entity_name": "TNNT1",
"entity_type": "gene"
},
{
"created": "2025-03-13T13:48:06.613908+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1572",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: TNNT1 were changed from Nemaline myopathy 5, Amish type, 605355 (3) to Nemaline myopathy 5A, autosomal recessive, severe infantile, MIM# 605355; Nemaline myopathy 5B, autosomal recessive, childhood-onset, MIM# 620386",
"entity_name": "TNNT1",
"entity_type": "gene"
},
{
"created": "2025-03-13T13:47:17.615357+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1571",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: TNNT1 were set to ",
"entity_name": "TNNT1",
"entity_type": "gene"
},
{
"created": "2025-03-13T13:46:24.482344+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1570",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: UNC80 as ready",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2025-03-13T13:46:24.472421+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1570",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: unc80 has been classified as Green List (High Evidence).",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2025-03-13T13:46:14.301868+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1570",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: UNC80 were set to ",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2025-03-13T13:45:40.209076+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1569",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: FLVCR2 as ready",
"entity_name": "FLVCR2",
"entity_type": "gene"
},
{
"created": "2025-03-13T13:45:40.202913+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1569",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: flvcr2 has been classified as Green List (High Evidence).",
"entity_name": "FLVCR2",
"entity_type": "gene"
},
{
"created": "2025-03-13T13:45:35.442247+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1569",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: FLVCR2 were set to ",
"entity_name": "FLVCR2",
"entity_type": "gene"
},
{
"created": "2025-03-13T13:44:58.697600+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: DLAT as ready",
"entity_name": "DLAT",
"entity_type": "gene"
},
{
"created": "2025-03-13T13:44:58.694428+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Upgrade to green",
"entity_name": "DLAT",
"entity_type": "gene"
},
{
"created": "2025-03-13T13:44:58.671121+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: dlat has been removed from the panel.",
"entity_name": "DLAT",
"entity_type": "gene"
},
{
"created": "2025-03-13T13:43:16.139921+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: FLVCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30712878, 20206334, 20518025, 20690116, 25677735; Phenotypes: Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FLVCR2",
"entity_type": "gene"
},
{
"created": "2025-03-13T13:40:14.359733+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "gene: DLAT was added\ngene: DLAT was added to Prepair 1000+. Sources: Literature\nMode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DLAT were set to 34138529; 16049940; 20022530; 29093066\nPhenotypes for gene: DLAT were set to Leigh syndrome MONDO:0009723; Pyruvate dehydrogenase E2 deficiency MIM#245348\nReview for gene: DLAT was set to GREEN\nAdded comment: Clinical presentation is in infancy. Pyruvate dehydrogenase E2 deficiency is a mitochondrial disorder, mostly affects the brain and leads to decreased ATP production and energy deficit. Can manifest as a syndrome of neurologic signs (congenital microcephaly, hypotonia, epilepsy, and/or ataxia), brain impacts (dysgenesis of the corpus callosum, Leigh syndrome) and metabolic abnormalities (increased plasma pyruvate, lactic acidemia, and/or metabolic acidosis). \r\nBiochemical function, expression data, and model systems available.\r\n\r\n1-4% of total PDE2D cases are due to variants in DLAT - associated with phenotype w/survival into childhood/adulthood, milder than other genes involved with condition.\r\n\r\nPMID: 16049940 - 2 unrelated patients with Episodic dystonia. Hypotonia and ataxia, being less prominent. Neuroradiological evidence of discrete lesions restricted to the globus pallidus,\r\nMale patient 1 - dystonic movements of the facial muscles and of his hands and feet.Developmental delay (12 words at age 4). Treatment has improved condition.\r\nMale patient 2 - presented at 11 months of age with episodic dystonia (up to 3hrs duration). 8 years of age, developmental delay, cannot walk.\r\nPMID: 29093066 - 2 siblings (both homozygous for c.470T>G; p.Val157Gly). Male sibling reported with intellectual disability and exercise-induced gait abnormalities. IQ of 44 at 8 years of age. Female sibling noted to have global delays with intellectual disability.\r\nPMID: 20022530 - two sisters with early onset episodic dystonia and pyruvate dehydrogenase deficiency. \r\n\r\nAt least 6 cases, in 4 unrelated families as described in publications above. While reportedly milder than other presentations, appears severe presentation in absence of treatment. Other genes currently included: PDHA1, PDHB, PDP1. \nSources: Literature",
"entity_name": "DLAT",
"entity_type": "gene"
},
{
"created": "2025-03-13T12:37:46.233694+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: UNC80: Rating: GREEN; Mode of pathogenicity: None; Publications: 26708753, 26708751, 30167850, 30771478; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2025-03-13T12:32:05.450162+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: TNNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26296490, 31604653, 10952871, 24689076; Phenotypes: Nemaline myopathy 5A, autosomal recessive, severe infantile, MIM# 605355, Nemaline myopathy 5B, autosomal recessive, childhood-onset, MIM# 620386; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TNNT1",
"entity_type": "gene"
},
{
"created": "2025-03-13T12:18:29.701334+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Lauren Thomas",
"item_type": "entity",
"text": "reviewed gene: TMEM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23519211, 23217329; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2025-03-13T10:22:13.786444+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: OXCT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30799594, 20652411, 25778941, 10964512, 8751852, 23420214; Phenotypes: Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OXCT1",
"entity_type": "gene"
},
{
"created": "2025-03-13T10:08:35.208046+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "gene: APC2 was added\ngene: APC2 was added to Prepair 1000+. Sources: Literature\nMode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: APC2 were set to 31585108\nPhenotypes for gene: APC2 were set to Cortical dysplasia, complex, with other brain malformations 10 MIM#618677; Intellectual developmental disorder, autosomal recessive 74 MIM#617169; Lissencephaly spectrum disorders MONDO:0018838\nReview for gene: APC2 was set to GREEN\nAdded comment: 12 individuals from 8 unrelated families; intellectual disability, seizures, cortical dysplasia including posterior to anterior predominant pattern of lissencephaly, heterotopias, paucity of white matter, thin corpus callosum.\r\nDefinitive classification by ClinGen.\r\nMouse model present.\r\n\r\nNote: Gene has also been implicated in Sotos Syndrome Type 3 which features intellectual disability and characteristic facial features \nSources: Literature",
"entity_name": "APC2",
"entity_type": "gene"
},
{
"created": "2025-03-13T07:13:36.715894+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFAP54 as ready",
"entity_name": "CFAP54",
"entity_type": "gene"
},
{
"created": "2025-03-13T07:13:36.705499+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap54 has been classified as Red List (Low Evidence).",
"entity_name": "CFAP54",
"entity_type": "gene"
},
{
"created": "2025-03-13T07:13:26.288652+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFAP54 was added\ngene: CFAP54 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CFAP54 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CFAP54 were set to 26224312; 36593121\nPhenotypes for gene: CFAP54 were set to Spermatogenic failure 98, MIM# 621124; Hydrocephalus, male infertility, mucus accumulation\nReview for gene: CFAP54 was set to RED\nAdded comment: PMID 36593121: Three men identified with bi-allelic variants and multiple morphologic abnormalities of the flagella or non-obstructive azoospermia.\r\n\r\nPMID: 26224312: Homozygous mice have PCD characterized by hydrocephalus, male infertility (spermatogenesis defects in flagella maturation), and mucus accumulation. Brain analysis showed mild dilatation of the lateral ventricles. Tracheal cilia beat frequency was significantly reduced. The gene was highest expressed in the testis and lungs \nSources: Literature",
"entity_name": "CFAP54",
"entity_type": "gene"
},
{
"created": "2025-03-13T07:12:46.880607+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CFAP54 were set to PMID: 26224312",
"entity_name": "CFAP54",
"entity_type": "gene"
},
{
"created": "2025-03-13T07:12:18.127221+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CFAP54: Changed publications: 36593121",
"entity_name": "CFAP54",
"entity_type": "gene"
},
{
"created": "2025-03-13T07:09:52.639457+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFAP54 were changed from Hydrocephalus, male infertility, mucus accumulation to Spermatogenic failure 98, MIM# 621124; Hydrocephalus, male infertility, mucus accumulation",
"entity_name": "CFAP54",
"entity_type": "gene"
},
{
"created": "2025-03-13T07:09:20.181793+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CFAP54: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 98, MIM# 621124; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFAP54",
"entity_type": "gene"
},
{
"created": "2025-03-13T07:06:47.858282+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BUD13 were changed from Lipodystrophy, MONDO:0006573 to Achalasia-progeroid syndrome, MIM# 621123",
"entity_name": "BUD13",
"entity_type": "gene"
},
{
"created": "2025-03-13T07:06:27.733917+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BUD13: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Achalasia-progeroid syndrome, MIM# 621123; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BUD13",
"entity_type": "gene"
},
{
"created": "2025-03-13T07:06:08.105024+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BUD13 were changed from Lipodystrophy, MONDO:0006573 to Achalasia-progeroid syndrome, MIM# 621123",
"entity_name": "BUD13",
"entity_type": "gene"
},
{
"created": "2025-03-13T07:05:35.496690+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BUD13: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Achalasia-progeroid syndrome, MIM# 621123; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BUD13",
"entity_type": "gene"
},
{
"created": "2025-03-12T16:54:43.700334+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: LIPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 28374935, 11487567, 8617513, 21963785; Phenotypes: Wolman disease, MIM#620151, Cholesteryl ester storage disease, MIM#278000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2025-03-12T16:30:35.992673+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: LIFR: Rating: GREEN; Mode of pathogenicity: None; Publications: 9674905, 9674906, 14740318, 24988918, 35663789, 20447141, 29620724, 28334964; Phenotypes: Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM#601559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIFR",
"entity_type": "gene"
},
{
"created": "2025-03-12T16:17:56.806798+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 11438988, 7920660, 8401593, 19565280, 9279760, 11857550, 15148591, 15368500, 22354677; Phenotypes: MASA syndrome, MIM#303350, Hydrocephalus, congenital, X-linked, MIM#307000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2025-03-12T15:53:45.387776+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: None; Publications: 15586325, 32279304; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, MIM#300534; 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": "KDM5C",
"entity_type": "gene"
},
{
"created": "2025-03-12T15:37:57.476391+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "changed review comment from: De novo variants and PTCs in females are severe, while inherited missense are milder. Females with these missense may be asymptomatic or show mild intellectual disability (PMID: 31415821). Autistic features are common.\r\n\r\nMissense can be both GOF or LOF.\r\n\r\nMore than 20 unrelated families reported.; to: De novo variants and PTCs in females are severe, while inherited missense are milder. Females with these missense may be asymptomatic or show mild intellectual disability (PMID: 31415821). Autistic features are common.\r\n\r\nMissense can be both GOF or LOF.\r\n\r\nMore than 20 unrelated families reported.\r\n\r\nClinGen: Definitive gene-disease association - The affected individuals, including both males and females, typically have intellectual disability with variable seizures, autistic traits, and psychiatric problems. Males are generally more severely affected compared with females.",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2025-03-12T15:33:38.336795+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: IQSEC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33368194, 20473311, 23674175, 31415821, 30842726; Phenotypes: Intellectual developmental disorder, X-linked 1, MIM#309530; 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": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2025-03-12T14:00:21.557002+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: IGF1R: Rating: GREEN; Mode of pathogenicity: None; Publications: 31586944, 14657428, 25040157, 23045302, 26252249, 15928254, 22130793, 17264177; Phenotypes: Insulin-like growth factor I, resistance to, MIM#270450; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2025-03-12T13:39:12.546924+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: HOGA1: Rating: RED; Mode of pathogenicity: None; Publications: 20797690, 21896830, 22391140, 36688940; Phenotypes: Hyperoxaluria, primary, type III, MIM#613616; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HOGA1",
"entity_type": "gene"
},
{
"created": "2025-03-12T12:27:45.890291+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: HMGCS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25778941, 9337379, 23751782, 33045405, 32470406, 32259399, 16601895; Phenotypes: HMG-CoA synthase-2 deficiency, MIM#605911; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HMGCS2",
"entity_type": "gene"
},
{
"created": "2025-03-12T11:33:45.729640+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31388111, 20301397; Phenotypes: Tay-Sachs disease, GM2-gangliosidosis, several forms, [Hex A pseudodeficiency], MIM#272800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2025-03-12T11:09:26.374809+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: GUCY2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 22521417, 22436048, 25994218, 30353760, 28957388, 22521417, 33883099, 31079856; Phenotypes: Meconium ileus, MIM#614665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GUCY2C",
"entity_type": "gene"
},
{
"created": "2025-03-12T10:52:16.044373+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: GPR179: Rating: GREEN; Mode of pathogenicity: None; Publications: 22325361; Phenotypes: Night blindness, congenital stationary (complete), 1E, autosomal recessive, MIM#614565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPR179",
"entity_type": "gene"
},
{
"created": "2025-03-12T10:16:02.519014+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19056803, 31431325, 25059390, 20537300, 21266381, 15192806, 18094336, 22669416, 24374284, 15192806; Phenotypes: Leukodystrophy, hypomyelinating, 2, MIM#608804; Mode of inheritance: None",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2025-03-11T18:38:38.048818+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.22",
"user_name": "Dmitrijs Rots",
"item_type": "entity",
"text": "reviewed gene: CSTB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2025-03-11T17:50:15.594272+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25103075, 27365701, 29880332; Phenotypes: Glycogen storage disease II, MIM#232300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2025-03-11T17:19:06.413837+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNQ1OT1 as Amber List (moderate evidence)",
"entity_name": "KCNQ1OT1",
"entity_type": "gene"
},
{
"created": "2025-03-11T17:19:06.404365+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnq1ot1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNQ1OT1",
"entity_type": "gene"
},
{
"created": "2025-03-11T16:53:29.219259+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "changed review comment from: Slowly progressive and ultimately fatal without a lung transplant. Age of onset in 3rd decade.\r\n\r\nPulmonary hypertension is a feature of the condition\r\nSevere; yes. Early onset; ?\r\n\r\nPMID:24135949 - 2 affected sibs, aged 19y & 33y at diagnosis. And 2x sporadic cases at 22y & 15y\r\n\r\nPMID: 24292273 - 13 families with 19 affected individuals. Age of PVOD diagnosis 3x 2nd decade (aged 11, 15 & 19), 9x 3rd decade, 4x 4th decade, 2x 5th decade, 1x 6th decade; to: Slowly progressive and ultimately fatal without a lung transplant. Age of onset in 3rd decade.\r\n\r\nPulmonary hypertension is a feature of the condition\r\n\r\nWell established gene-disease assoc. Severe; yes. Early onset; varies\r\n\r\nPMID:24135949 - 2 affected sibs, aged 19y & 33y at diagnosis. And 2x sporadic cases at 22y & 15y\r\n\r\nPMID: 24292273 - 13 families with 19 affected individuals. Age of PVOD diagnosis 3x 2nd decade (aged 11, 15 & 19), 9x 3rd decade, 4x 4th decade, 2x 5th decade, 1x 6th decade",
"entity_name": "EIF2AK4",
"entity_type": "gene"
},
{
"created": "2025-03-11T16:52:32.273412+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: EIF2AK4: Rating: AMBER; Mode of pathogenicity: None; Publications: 24135949, 24292273; Phenotypes: Pulmonary venoocclusive disease 2, MIM#234810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EIF2AK4",
"entity_type": "gene"
},
{
"created": "2025-03-11T16:18:43.419966+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19442771, 19361615, 22499340, 23456818, 27925158, 32753734, 31730820, 32753734; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM#613091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2025-03-11T15:15:10.095533+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: DNAJC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 33983693, 22563501, 23211418, 26528954; Phenotypes: Parkinson disease 19a, juvenile-onset, MIM#615528; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAJC6",
"entity_type": "gene"
},
{
"created": "2025-03-11T14:57:31.550029+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIGW as Amber List (moderate evidence)",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2025-03-11T14:57:31.538128+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigw has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2025-03-11T14:57:05.513019+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIGW: Added comment: Downgraded to AMBER, assessed as LIMITED by ClinGen.; Changed rating: AMBER",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2025-03-11T14:56:37.009136+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIGW as Amber List (moderate evidence)",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2025-03-11T14:56:37.001533+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigw has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2025-03-11T14:56:07.556780+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIGW: Added comment: Downgraded to AMBER, assessed as LIMITED by ClinGen.; Changed rating: AMBER",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2025-03-11T14:55:36.182658+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGW were changed from Glycosylphosphatidylinositol biosynthesis defect 11, MIM#\t616025; intractable seizures; West syndrome; severe developmental delay; dysmorphic facial features; hyperphosphatasia; epilepsy; recurrent respiratory infections; hypotonia; stereotypies to Glycosylphosphatidylinositol biosynthesis defect 11, MIM#\t616025",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2025-03-11T14:55:26.035366+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1568",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: DNAJC21: Rating: GREEN; Mode of pathogenicity: None; Publications: 29700810, 28062395, 27346687; Phenotypes: Bone marrow failure syndrome 3, MIM#617052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2025-03-11T14:55:03.555495+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIGW as Amber List (moderate evidence)",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2025-03-11T14:55:03.548282+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigw has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2025-03-11T14:54:34.350008+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIGW: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2025-03-11T14:53:32.031672+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIGW as Amber List (moderate evidence)",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2025-03-11T14:53:32.015662+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigw has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2025-03-11T14:53:14.161586+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIGW: Added comment: Downgraded to AMBER in light of ClinGen's assessment as LIMITED.; Changed rating: AMBER",
"entity_name": "PIGW",
"entity_type": "gene"
},
{
"created": "2025-03-11T14:48:05.812868+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIAA1549 as ready",
"entity_name": "KIAA1549",
"entity_type": "gene"
},
{
"created": "2025-03-11T14:48:05.801855+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa1549 has been classified as Green List (High Evidence).",
"entity_name": "KIAA1549",
"entity_type": "gene"
},
{
"created": "2025-03-11T14:47:59.015615+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIAA1549: Changed phenotypes: retinitis pigmentosa 86 MONDO:0032834",
"entity_name": "KIAA1549",
"entity_type": "gene"
},
{
"created": "2025-03-11T14:47:44.215254+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIAA1549: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIAA1549",
"entity_type": "gene"
},
{
"created": "2025-03-11T14:47:13.232961+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA1549 were changed from Retinitis pigmentosa 86 to retinitis pigmentosa 86 MONDO:0032834",
"entity_name": "KIAA1549",
"entity_type": "gene"
}
]
}