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{
"count": 221292,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1051",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1049",
"results": [
{
"created": "2022-01-13T17:44:05.294079+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2044",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2d has been classified as Green List (High Evidence).",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:44:01.370227+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2044",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2D were changed from KABUKI SYNDROME to Kabuki syndrome 1, MIM# 147920; KMT2D-associated syndrome",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:43:28.283228+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2043",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KMT2D were set to ",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:43:08.612960+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2042",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KMT2D was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:42:41.630206+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Rare reports of CDH in Kabuki syndrome, not a characteristic or common feature; however, 4 identified in this CDH cohort.; to: Multiple congenital anomalies syndrome.\r\n",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:42:02.311597+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KMT2C as ready",
"entity_name": "KMT2C",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:42:02.287043+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2c has been classified as Green List (High Evidence).",
"entity_name": "KMT2C",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:41:58.251984+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2C were changed from INTELLECTUAL DISABILITY; Kleefstra syndrome 2 617768 to Kleefstra syndrome 2, MIM#617768",
"entity_name": "KMT2C",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:41:43.111149+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2040",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KMT2C was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT2C",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:41:29.814119+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Mostly PTCs, 2 missense reported in ClinVar but in silicos evidence only; to: Mostly PTCs, 2 missense reported in ClinVar but in silicos evidence only.\r\n\r\nMultiple congenital anomalies syndrome.",
"entity_name": "KMT2C",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:40:44.567614+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KMT2A as ready",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:40:44.556883+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2a has been classified as Green List (High Evidence).",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:40:37.124975+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2A were changed from Wiedemann-Steiner syndrome, OMIM:605130 to Wiedemann-Steiner syndrome, MIM# 605130",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:39:08.066440+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KMT2A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:38:51.811293+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: KMT2A: Multiple congenital anomalies syndrome.",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:38:42.508536+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2037",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SPARC as Red List (low evidence)",
"entity_name": "SPARC",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:38:42.498455+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2037",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: sparc has been classified as Red List (Low Evidence).",
"entity_name": "SPARC",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:38:26.013993+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2036",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SPARC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SPARC",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:38:23.884462+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLHL41 as ready",
"entity_name": "KLHL41",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:38:23.872365+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klhl41 has been classified as Green List (High Evidence).",
"entity_name": "KLHL41",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:38:20.484611+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KLHL41 were changed from Nemaline myopathy 615731 to Nemaline myopathy 9, MIM# 615731",
"entity_name": "KLHL41",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:38:07.917732+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KLHL41 were set to ",
"entity_name": "KLHL41",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:37:37.091365+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLHL40 as ready",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:37:37.073699+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klhl40 has been classified as Green List (High Evidence).",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:37:33.048492+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KLHL40 were changed from NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE to Nemaline myopathy 8, autosomal recessive, MIM# 615348",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:37:20.231007+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2033",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KLHL40 were set to ",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:36:42.857363+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF7 as ready",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:36:42.846422+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif7 has been classified as Green List (High Evidence).",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:36:39.578794+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF7 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION; ACROCALLOSAL SYNDROME to Hydrolethalus syndrome 2, MIM# 614120; Acrocallosal syndrome",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:36:19.778993+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF7 were set to ",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:36:17.725547+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2031",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SLC25A22 as Red List (low evidence)",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:36:17.713592+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2031",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: slc25a22 has been classified as Red List (Low Evidence).",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:35:59.648528+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2030",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIF7: Changed rating: GREEN",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:35:53.171506+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2030",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SLC25A22: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:35:23.061141+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2030",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF1BP as ready",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:35:23.050420+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2030",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif1bp has been classified as Green List (High Evidence).",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:35:19.159713+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2030",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF1BP were changed from GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME to Goldberg-Shprintzen megacolon syndrome, MIM# 609460",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:35:00.504834+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF1BP were set to ",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:34:42.594068+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Comment when marking as ready: HGNC approved name KIFBP.; to: Comment when marking as ready: HGNC approved name KIFBP.\r\n\r\nMultiple congenital anomalies syndrome.",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:34:00.877486+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF1A as ready",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:34:00.866989+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif1a has been classified as Green List (High Evidence).",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:33:56.560328+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF1A were changed from NESCAV SYNDROME, 614255; NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, 614213 to NESCAV syndrome, MIM# 614255",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:33:41.720116+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2027",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF1A were set to ",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:33:18.885796+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2026",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF1A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:33:10.936155+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2025",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MESD as Green List (high evidence)",
"entity_name": "MESD",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:33:10.923958+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2025",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: mesd has been classified as Green List (High Evidence).",
"entity_name": "MESD",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:33:00.574478+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2024",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: MESD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "MESD",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:32:58.220858+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2024",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIF1A: Added comment: Brain abnormalities reported with the mono-allelic disorder.; Changed rating: GREEN; Changed phenotypes: NESCAV syndrome, MIM# 614255; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:31:42.531974+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2024",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF11 as ready",
"entity_name": "KIF11",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:31:42.520660+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2024",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif11 has been classified as Green List (High Evidence).",
"entity_name": "KIF11",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:31:01.715948+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2024",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF11 were changed from AUTOSOMAL-DOMINANT MICROCEPHALY ASSOCIATED WITH LYMPHEDEMA AND/OR CHORIORETINOPATHY to Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950; MONDO:0007918",
"entity_name": "KIF11",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:30:43.876180+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF11 were set to ",
"entity_name": "KIF11",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:30:35.863819+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2022",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIF11",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:29:40.879214+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2021",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SULT2B1 as Red List (low evidence)",
"entity_name": "SULT2B1",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:29:40.869190+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2021",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: sult2b1 has been classified as Red List (Low Evidence).",
"entity_name": "SULT2B1",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:29:38.968246+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2020",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIAA0586 as ready",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:29:38.915382+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2020",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa0586 has been classified as Green List (High Evidence).",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:29:32.136999+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2020",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA0586 were changed from JOUBERT SYNDROME to Joubert syndrome 23 616490; Short-rib thoracic dysplasia 14 with polydactyly 616546; Hydrolethalus",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:29:19.447456+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2019",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SULT2B1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SULT2B1",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:29:14.097078+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2019",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIAA0586 were set to ",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:28:48.049367+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIAA0586: Changed rating: GREEN",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:27:30.763444+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2018",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PNPLA1 as Red List (low evidence)",
"entity_name": "PNPLA1",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:27:30.751522+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2018",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pnpla1 has been classified as Red List (Low Evidence).",
"entity_name": "PNPLA1",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:27:19.908667+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2017",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: PNPLA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "PNPLA1",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:26:41.958367+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC39A7 were changed from Absent B cells; Agammaglobulinemia; Early onset infections to Agammaglobulinaemia 9, autosomal recessive, MIM# 619693; Absent B cells; Agammaglobulinemia; Early onset infections",
"entity_name": "SLC39A7",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:26:06.641910+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC39A7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 9, autosomal recessive, MIM# 619693, Antibody deficiency, early onset infections, blistering dermatosis, failure to thrive, thrombocytopaenia; Mode of inheritance: None",
"entity_name": "SLC39A7",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:25:41.797583+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC39A7 were changed from Antibody deficiency; early onset infections; blistering dermatosis; failure to thrive; thrombocytopaenia to Agammaglobulinaemia 9, autosomal recessive, MIM# 619693; Antibody deficiency; early onset infections; blistering dermatosis; failure to thrive; thrombocytopaenia",
"entity_name": "SLC39A7",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:25:11.577216+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC39A7: Changed phenotypes: Agammaglobulinaemia 9, autosomal recessive, MIM# 619693, Antibody deficiency, early onset infections, blistering dermatosis, failure to thrive, thrombocytopaenia",
"entity_name": "SLC39A7",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:24:50.617839+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC39A7 were changed from Antibody deficiency; early onset infections; blistering dermatosis; failure to thrive; thrombocytopaenia to Agammaglobulinaemia 9, autosomal recessive, MIM#\t619693; Antibody deficiency; early onset infections; blistering dermatosis; failure to thrive; thrombocytopaenia",
"entity_name": "SLC39A7",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:24:20.619813+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC39A7: Changed phenotypes: Agammaglobulinemia 9, autosomal recessive, MIM# 619693, Antibody deficiency, early onset infections, blistering dermatosis, failure to thrive, thrombocytopaenia",
"entity_name": "SLC39A7",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:23:56.840211+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2017",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ALOXE3 as Red List (low evidence)",
"entity_name": "ALOXE3",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:23:56.830185+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2017",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: aloxe3 has been classified as Red List (Low Evidence).",
"entity_name": "ALOXE3",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:23:45.828722+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2016",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: ALOXE3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ALOXE3",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:23:06.198481+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2016",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ALOX12B as Red List (low evidence)",
"entity_name": "ALOX12B",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:23:06.185777+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2016",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: alox12b has been classified as Red List (Low Evidence).",
"entity_name": "ALOX12B",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:22:55.071213+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2015",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: ALOX12B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ALOX12B",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:22:11.384386+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNF220 were changed from Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum to Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688; Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum",
"entity_name": "RNF220",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:21:59.108185+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RNF220: Changed phenotypes: Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688, Leukodystrophy, CNS hypomyelination, Ataxia, Intellectual disability, Sensorineural hearing impairment, Elevated hepatic transaminases, Hepatic fibrosis, Dilated cardiomyopathy, Spastic paraplegia, Dysarthria, Abnormality of the corpus callosum",
"entity_name": "RNF220",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:21:43.672523+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNF220 were changed from Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum to Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688; Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum",
"entity_name": "RNF220",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:21:27.307381+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RNF220: Changed phenotypes: Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688, Leukodystrophy, CNS hypomyelination, Ataxia, Intellectual disability, Sensorineural hearing impairment, Elevated hepatic transaminases, Hepatic fibrosis, Dilated cardiomyopathy, Spastic paraplegia, Dysarthria, Abnormality of the corpus callosum",
"entity_name": "RNF220",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:18:42.065788+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNF220 were changed from Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum to Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688; Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum",
"entity_name": "RNF220",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:18:25.852568+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RNF220: Changed phenotypes: Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688, Leukodystrophy, CNS hypomyelination, Ataxia, Intellectual disability, Sensorineural hearing impairment, Elevated hepatic transaminases, Hepatic fibrosis, Dilated cardiomyopathy, Spastic paraplegia, Dysarthria, Abnormality of the corpus callosum",
"entity_name": "RNF220",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:18:06.629804+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNF220 were changed from Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum to Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688; Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum",
"entity_name": "RNF220",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:17:28.415424+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RNF220: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688, Leukodystrophy, CNS hypomyelination, Ataxia, Intellectual disability, Sensorineural hearing impairment, Elevated hepatic transaminases, Hepatic fibrosis, Dilated cardiomyopathy, Spastic paraplegia, Dysarthria, Abnormality of the corpus callosum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNF220",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:17:05.743542+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNF220 were changed from Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum to Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688; Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum",
"entity_name": "RNF220",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:16:34.211024+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RNF220: Changed phenotypes: Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688, Leukodystrophy, CNS hypomyelination, Ataxia, Intellectual disability, Sensorineural hearing impairment, Elevated hepatic transaminases, Hepatic fibrosis, Dilated cardiomyopathy, Spastic paraplegia, Dysarthria, Abnormality of the corpus callosum",
"entity_name": "RNF220",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:16:02.172960+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNF220 were changed from Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum to Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM#\t619688; Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum",
"entity_name": "RNF220",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:13:05.600250+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2015",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ST14 as Red List (low evidence)",
"entity_name": "ST14",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:13:05.589006+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2015",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: st14 has been classified as Red List (Low Evidence).",
"entity_name": "ST14",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:12:47.903087+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RNF220: Changed phenotypes: Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688, Leukodystrophy, CNS hypomyelination, Ataxia, Intellectual disability, Sensorineural hearing impairment, Elevated hepatic transaminases, Hepatic fibrosis, Dilated cardiomyopathy, Spastic paraplegia, Dysarthria, Abnormality of the corpus callosum",
"entity_name": "RNF220",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:12:41.823900+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2014",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: ST14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ST14",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:11:58.183077+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2014",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: NIPAL4 as Red List (low evidence)",
"entity_name": "NIPAL4",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:11:58.171342+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2014",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: nipal4 has been classified as Red List (Low Evidence).",
"entity_name": "NIPAL4",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:11:42.640663+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2013",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: NIPAL4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "NIPAL4",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:09:42.688571+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2013",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TGM1 as Red List (low evidence)",
"entity_name": "TGM1",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:09:42.676645+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2013",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tgm1 has been classified as Red List (Low Evidence).",
"entity_name": "TGM1",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:09:30.292161+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2012",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: TGM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "TGM1",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:08:42.407770+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2012",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SDR9C7 as Red List (low evidence)",
"entity_name": "SDR9C7",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:08:42.392255+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2012",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: sdr9c7 has been classified as Red List (Low Evidence).",
"entity_name": "SDR9C7",
"entity_type": "gene"
},
{
"created": "2022-01-13T17:08:27.616129+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2011",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SDR9C7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SDR9C7",
"entity_type": "gene"
}
]
}