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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1125",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1123",
"results": [
{
"created": "2021-11-19T13:34:08.728304+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col18a1 has been classified as Green List (High Evidence).",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2021-11-19T13:34:05.172217+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL18A1 were changed from KNOBLOCH SYNDROME TYPE I to Knobloch syndrome, type 1 MIM# 267750",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2021-11-19T13:33:54.059233+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL18A1 were set to ",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2021-11-19T13:33:40.082467+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COL18A1: Changed rating: GREEN",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2021-11-19T13:33:33.342331+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2021-11-19T13:32:47.784920+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL11A2 as ready",
"entity_name": "COL11A2",
"entity_type": "gene"
},
{
"created": "2021-11-19T13:32:47.773992+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col11a2 has been classified as Green List (High Evidence).",
"entity_name": "COL11A2",
"entity_type": "gene"
},
{
"created": "2021-11-19T13:32:43.906880+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL11A2 were changed from DEAFNESS AUTOSOMAL DOMINANT TYPE 13; AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; WEISSENBACHER-ZWEYMUELLER SYNDROME; STICKLER SYNDROME TYPE 3; DEAFNESS AUTOSOMAL RECESSIVE TYPE 53 to Fibrochondrogenesis 2, MIM# 614524; Otospondylomegaepiphyseal dysplasia, autosomal recessive, MIM# 215150",
"entity_name": "COL11A2",
"entity_type": "gene"
},
{
"created": "2021-11-19T13:32:22.519324+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL11A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fibrochondrogenesis 2, MIM# 614524, Otospondylomegaepiphyseal dysplasia, autosomal recessive, MIM# 215150; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL11A2",
"entity_type": "gene"
},
{
"created": "2021-11-19T13:30:30.858845+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL11A1 as ready",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2021-11-19T13:30:30.846188+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col11a1 has been classified as Green List (High Evidence).",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2021-11-19T13:30:26.956820+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL11A1 were changed from FIBROCHONDROGENESIS; STICKLER SYNDROME, TYPE II to Fibrochondrogenesis 1, MIM# 228520; Marshall syndrome, MIM# 154780",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2021-11-19T13:30:01.446362+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fibrochondrogenesis 1, MIM# 228520, Marshall syndrome, MIM# 154780; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2021-11-19T10:34:06.291149+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL10A1 as ready",
"entity_name": "COL10A1",
"entity_type": "gene"
},
{
"created": "2021-11-19T10:34:06.275440+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col10a1 has been classified as Green List (High Evidence).",
"entity_name": "COL10A1",
"entity_type": "gene"
},
{
"created": "2021-11-19T10:34:01.507161+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL10A1 were changed from SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA to Metaphyseal chondrodysplasia, Schmid type, MIM#156500",
"entity_name": "COL10A1",
"entity_type": "gene"
},
{
"created": "2021-11-19T10:32:41.553811+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL10A1 were set to ",
"entity_name": "COL10A1",
"entity_type": "gene"
},
{
"created": "2021-11-19T10:32:26.775712+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL10A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL10A1",
"entity_type": "gene"
},
{
"created": "2021-11-19T10:32:13.026790+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL10A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15880705, 31633898; Phenotypes: Metaphyseal chondrodysplasia, Schmid type, MIM#156500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL10A1",
"entity_type": "gene"
},
{
"created": "2021-11-18T20:18:39.714784+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COG8 as ready",
"entity_name": "COG8",
"entity_type": "gene"
},
{
"created": "2021-11-18T20:18:39.704163+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog8 has been classified as Green List (High Evidence).",
"entity_name": "COG8",
"entity_type": "gene"
},
{
"created": "2021-11-18T20:18:33.848079+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COG8 were changed from COG8-CDG to Congenital disorder of glycosylation, type IIh, MIM# 611182",
"entity_name": "COG8",
"entity_type": "gene"
},
{
"created": "2021-11-18T20:18:21.257678+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COG8 were set to 30690882",
"entity_name": "COG8",
"entity_type": "gene"
},
{
"created": "2021-11-18T20:17:34.851447+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COG7 as ready",
"entity_name": "COG7",
"entity_type": "gene"
},
{
"created": "2021-11-18T20:17:34.841256+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog7 has been classified as Green List (High Evidence).",
"entity_name": "COG7",
"entity_type": "gene"
},
{
"created": "2021-11-18T20:17:30.846262+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COG7 were changed from COG7-CDG to Congenital disorder of glycosylation, type IIe , MIM#608779",
"entity_name": "COG7",
"entity_type": "gene"
},
{
"created": "2021-11-18T20:17:10.122193+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COG7 were set to ",
"entity_name": "COG7",
"entity_type": "gene"
},
{
"created": "2021-11-18T20:16:57.394528+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: CDG IIe is caused by variants that impair the integrity of the conserved oligomeric Golgi (COG) complex and alter Golgi trafficking, resulting in the disruption of multiple glycosylation pathways.\r\n\r\nThree families reported, IVS1+4A-C variant is recurrent, supportive functional data.; to: CDG IIe is caused by variants that impair the integrity of the conserved oligomeric Golgi (COG) complex and alter Golgi trafficking, resulting in the disruption of multiple glycosylation pathways.\r\n\r\nThree families reported, IVS1+4A-C variant is recurrent, supportive functional data.\r\n\r\nIUGR is a feature.",
"entity_name": "COG7",
"entity_type": "gene"
},
{
"created": "2021-11-18T20:15:15.667320+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COG4 as ready",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2021-11-18T20:15:15.656386+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog4 has been classified as Green List (High Evidence).",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2021-11-18T20:15:09.242267+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COG4 were changed from COG4-CDG; Saul-Wilson syndrome, 618150 to Congenital disorder of glycosylation, type IIj 613489; Saul-Wilson syndrome, MIM #618150",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2021-11-18T20:14:10.648293+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COG4 were set to 30290151",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2021-11-18T20:13:45.846221+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COG4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2021-11-18T20:13:31.263946+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COG4: Changed phenotypes: Congenital disorder of glycosylation, type IIj 613489, Saul-Wilson syndrome, OMIM #618150; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2021-11-18T20:13:14.586907+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Bi-allelic variants in this gene are associated with CDG. Microcephaly in some.; to: Bi-allelic variants in this gene are associated with CDG. Microcephaly in some.\r\n\r\nSaul-Wilson syndrome is associated with mono-allelic variants: skeletal dysplasia, including prenatal findings.",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2021-11-18T20:12:05.153548+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Bi-allelic variants in this gene are associated with CDG.; to: Bi-allelic variants in this gene are associated with CDG. Microcephaly in some.",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2021-11-18T20:11:01.901264+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COG1 as ready",
"entity_name": "COG1",
"entity_type": "gene"
},
{
"created": "2021-11-18T20:11:01.888935+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog1 has been classified as Green List (High Evidence).",
"entity_name": "COG1",
"entity_type": "gene"
},
{
"created": "2021-11-18T20:10:45.677713+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COG1 were changed from to Congenital disorder of glycosylation, type IIg, MIM# 611209",
"entity_name": "COG1",
"entity_type": "gene"
},
{
"created": "2021-11-18T20:10:23.277644+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COG1 were set to ",
"entity_name": "COG1",
"entity_type": "gene"
},
{
"created": "2021-11-18T20:10:02.568799+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG1",
"entity_type": "gene"
},
{
"created": "2021-11-18T20:09:45.776221+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16537452, 19008299, 17904886, 11980916; Phenotypes: Congenital disorder of glycosylation, type IIg, MIM# 611209; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG1",
"entity_type": "gene"
},
{
"created": "2021-11-18T20:08:49.839793+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COG1 as ready",
"entity_name": "COG1",
"entity_type": "gene"
},
{
"created": "2021-11-18T20:08:49.823923+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog1 has been classified as Green List (High Evidence).",
"entity_name": "COG1",
"entity_type": "gene"
},
{
"created": "2021-11-18T20:08:43.968364+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COG1 were changed from COG1-CDG to Congenital disorder of glycosylation, type IIg, MIM# 611209",
"entity_name": "COG1",
"entity_type": "gene"
},
{
"created": "2021-11-18T20:08:31.284908+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COG1 were set to ",
"entity_name": "COG1",
"entity_type": "gene"
},
{
"created": "2021-11-18T20:08:15.845588+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two unrelated families and supportive functional data.; to: Two unrelated families and supportive functional data. IUGR and congenital anomalies are a feature.",
"entity_name": "COG1",
"entity_type": "gene"
},
{
"created": "2021-11-18T20:07:18.166012+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COASY as ready",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2021-11-18T20:07:18.156229+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coasy has been classified as Amber List (Moderate Evidence).",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2021-11-18T20:07:14.200491+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COASY were changed from NEURODEGENERATION WITH BRAIN IRON ACCUMULATION to Pontocerebellar hypoplasia; microcephaly; arthrogryposis",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2021-11-18T20:07:00.429532+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COASY were set to ",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2021-11-18T20:06:45.067789+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two families reported with a severe, prenatal onset phenotype comprising PCH, microcephaly and arthrogryposis. Note gene is also associated with NBIA. \nSources: Expert list; to: Two families reported with a severe, prenatal onset phenotype comprising PCH, microcephaly and arthrogryposis. \r\n\r\nNote gene is also associated with NBIA but this presents postnatally.\r\nSources: Expert list",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2021-11-18T20:06:20.462453+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COASY as Amber List (moderate evidence)",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2021-11-18T20:06:20.452004+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coasy has been classified as Amber List (Moderate Evidence).",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2021-11-18T17:52:32.824380+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ETHE1 as ready",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-11-18T17:52:32.810288+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ethe1 has been classified as Red List (Low Evidence).",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-11-18T17:52:29.297345+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ETHE1 were changed from ETHYLMALONIC ENCEPHALOPATHY to Ethylmalonic encephalopathy, MIM# 602473",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-11-18T17:52:13.220813+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ETHE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ethylmalonic encephalopathy, MIM# 602473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-11-18T17:51:18.307821+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ETHE1 as ready",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-11-18T17:51:18.298371+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ethe1 has been classified as Green List (High Evidence).",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-11-18T17:51:10.964877+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ETHE1 as Green List (high evidence)",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-11-18T17:51:10.953867+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ethe1 has been classified as Green List (High Evidence).",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-11-18T17:50:40.894751+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ETHE1 was added\ngene: ETHE1 was added to Fatty Acid Oxidation Defects. Sources: Expert Review\nMode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ETHE1 were set to 18593870\nPhenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy, MIM#\t602473\nReview for gene: ETHE1 was set to GREEN\nAdded comment: Well established gene-disease association.\r\n\r\nThe disorder is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhoea. Brain MRI shows necrotic lesions in deep gray matter structures.\r\n\r\nAlthough not a FAO disorder, included on this panel as the initial metabolic findings are often suggestive of MADD or potentially a riboflavin transporter defect. \nSources: Expert Review",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-11-18T13:43:14.328801+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9776",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NEBL as Amber List (moderate evidence)",
"entity_name": "NEBL",
"entity_type": "gene"
},
{
"created": "2021-11-18T13:43:14.321945+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9776",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Limited gene-disease vailidity, Classification - 09/25/2020 by ClinGen Dilated Cardiomyopathy GCEP. Evidence Summary: NEBL was evaluated for autosomal dominant dilated cardiomyopathy (DCM). Human genetic evidence supporting this gene-disease relationship includes case-level data. Arimura and colleagues (2000, PMID: 11140941) analyzed 83 DCM patients and 311 healthy controls, identifying 4 missense variants of unknown significance (VUSs) in 4 DCM cases. High minor allele frequencies (MAFs) and lack of segregation excluded these variants as evidence. Purevjav and colleagues (2010, PMID: 20951326) investigated a total of 260 DCM patients and 300 unrelated ethnic matched controls by direct DNA sequencing. Authors identified 4 missense VUSs. One of these variants (Q128R) was downgraded in level of evidence due to the lack of segregation. The other 3 variants were not scored because of their MAF. Perrot and colleagues (2016, PMID: 27186169) investigated a total of 389 patients with DCM, HCM, or LVNC, 320 Caucasian sex-matched controls and 192 Caucasian sex-matched blood donors and identified 3 missense VUSs in 4 families. One of these variants was also carried by healthy relatives and therefore was excluded, however this may be explained by reduced penetrance. The 2 other variants lacked segregation as well and therefore were also excluded. In addition, this gene-disease association is supported by animal models. Mastronotaro and colleagues (2015, PMID: 25987543) created a NEBL knockout mice that exhibited normal cardiac function up to 9 months of age but after 2 weeks of transaortic constriction (TAC), these mice showed Z-line widening since the age of 5 months and upregulation of cardiac stress genes (basal and after TAC) However, absence of clinical DCM features in KO-NEBL mice as well as Western Blot analysis which contradicted previous findings by showing a similar protein expression between knockout and wild-type mice, excluding it as evidence. Purevjav and colleagues (2010, PMID: 20951326) generated a transgenic mouse overexpressing WT or mutant NEBL under the control of the α-MyHC promoter (4 variants were tested). Mice overexpressing p.K60N or p.Q128R variants died within 1 year because of severe heart enlargement and heart failure. Mice overexpressing p.G202R or p.A592E were born and developed normally but after 6 months displayed reduced stress tolerance, cardiac enlargement due to left ventricle dilation, myocyte disarray, and interstitial cell infiltration. In summary, there is limited evidence to support this gene-disease relationship. More evidence is needed to support the relationship of NEBL and autosomal dominant DCM. This classification was approved by the ClinGen Dilated Cardiomyopathy Working Group on October 11, 2019 (SOP Version 7). Gene Clinical Validity Standard Operating Procedures (SOP) - SOP7",
"entity_name": "NEBL",
"entity_type": "gene"
},
{
"created": "2021-11-18T13:43:14.288212+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9776",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nebl has been classified as Amber List (Moderate Evidence).",
"entity_name": "NEBL",
"entity_type": "gene"
},
{
"created": "2021-11-18T13:04:38.391986+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.158",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NEBL as Amber List (moderate evidence)",
"entity_name": "NEBL",
"entity_type": "gene"
},
{
"created": "2021-11-18T13:04:38.386913+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.158",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Limited gene-disease vailidity, Classification - 09/25/2020 by ClinGen Dilated Cardiomyopathy GCEP. Evidence Summary: NEBL was evaluated for autosomal dominant dilated cardiomyopathy (DCM). Human genetic evidence supporting this gene-disease relationship includes case-level data. Arimura and colleagues (2000, PMID: 11140941) analyzed 83 DCM patients and 311 healthy controls, identifying 4 missense variants of unknown significance (VUSs) in 4 DCM cases. High minor allele frequencies (MAFs) and lack of segregation excluded these variants as evidence. Purevjav and colleagues (2010, PMID: 20951326) investigated a total of 260 DCM patients and 300 unrelated ethnic matched controls by direct DNA sequencing. Authors identified 4 missense VUSs. One of these variants (Q128R) was downgraded in level of evidence due to the lack of segregation. The other 3 variants were not scored because of their MAF. Perrot and colleagues (2016, PMID: 27186169) investigated a total of 389 patients with DCM, HCM, or LVNC, 320 Caucasian sex-matched controls and 192 Caucasian sex-matched blood donors and identified 3 missense VUSs in 4 families. One of these variants was also carried by healthy relatives and therefore was excluded, however this may be explained by reduced penetrance. The 2 other variants lacked segregation as well and therefore were also excluded. In addition, this gene-disease association is supported by animal models. Mastronotaro and colleagues (2015, PMID: 25987543) created a NEBL knockout mice that exhibited normal cardiac function up to 9 months of age but after 2 weeks of transaortic constriction (TAC), these mice showed Z-line widening since the age of 5 months and upregulation of cardiac stress genes (basal and after TAC) However, absence of clinical DCM features in KO-NEBL mice as well as Western Blot analysis which contradicted previous findings by showing a similar protein expression between knockout and wild-type mice, excluding it as evidence. Purevjav and colleagues (2010, PMID: 20951326) generated a transgenic mouse overexpressing WT or mutant NEBL under the control of the α-MyHC promoter (4 variants were tested). Mice overexpressing p.K60N or p.Q128R variants died within 1 year because of severe heart enlargement and heart failure. Mice overexpressing p.G202R or p.A592E were born and developed normally but after 6 months displayed reduced stress tolerance, cardiac enlargement due to left ventricle dilation, myocyte disarray, and interstitial cell infiltration. In summary, there is limited evidence to support this gene-disease relationship. More evidence is needed to support the relationship of NEBL and autosomal dominant DCM. This classification was approved by the ClinGen Dilated Cardiomyopathy Working Group on October 11, 2019 (SOP Version 7). Gene Clinical Validity Standard Operating Procedures (SOP) - SOP7",
"entity_name": "NEBL",
"entity_type": "gene"
},
{
"created": "2021-11-18T13:04:38.346863+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.158",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nebl has been classified as Amber List (Moderate Evidence).",
"entity_name": "NEBL",
"entity_type": "gene"
},
{
"created": "2021-11-18T12:54:41.907288+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NEBL as Amber List (moderate evidence)",
"entity_name": "NEBL",
"entity_type": "gene"
},
{
"created": "2021-11-18T12:54:41.901533+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Limited gene-disease vailidity, Classification - 09/25/2020 by ClinGen Dilated Cardiomyopathy GCEP. Evidence Summary: NEBL was evaluated for autosomal dominant dilated cardiomyopathy (DCM). Human genetic evidence supporting this gene-disease relationship includes case-level data. Arimura and colleagues (2000, PMID: 11140941) analyzed 83 DCM patients and 311 healthy controls, identifying 4 missense variants of unknown significance (VUSs) in 4 DCM cases. High minor allele frequencies (MAFs) and lack of segregation excluded these variants as evidence. Purevjav and colleagues (2010, PMID: 20951326) investigated a total of 260 DCM patients and 300 unrelated ethnic matched controls by direct DNA sequencing. Authors identified 4 missense VUSs. One of these variants (Q128R) was downgraded in level of evidence due to the lack of segregation. The other 3 variants were not scored because of their MAF. Perrot and colleagues (2016, PMID: 27186169) investigated a total of 389 patients with DCM, HCM, or LVNC, 320 Caucasian sex-matched controls and 192 Caucasian sex-matched blood donors and identified 3 missense VUSs in 4 families. One of these variants was also carried by healthy relatives and therefore was excluded, however this may be explained by reduced penetrance. The 2 other variants lacked segregation as well and therefore were also excluded. In addition, this gene-disease association is supported by animal models. Mastronotaro and colleagues (2015, PMID: 25987543) created a NEBL knockout mice that exhibited normal cardiac function up to 9 months of age but after 2 weeks of transaortic constriction (TAC), these mice showed Z-line widening since the age of 5 months and upregulation of cardiac stress genes (basal and after TAC) However, absence of clinical DCM features in KO-NEBL mice as well as Western Blot analysis which contradicted previous findings by showing a similar protein expression between knockout and wild-type mice, excluding it as evidence. Purevjav and colleagues (2010, PMID: 20951326) generated a transgenic mouse overexpressing WT or mutant NEBL under the control of the α-MyHC promoter (4 variants were tested). Mice overexpressing p.K60N or p.Q128R variants died within 1 year because of severe heart enlargement and heart failure. Mice overexpressing p.G202R or p.A592E were born and developed normally but after 6 months displayed reduced stress tolerance, cardiac enlargement due to left ventricle dilation, myocyte disarray, and interstitial cell infiltration. In summary, there is limited evidence to support this gene-disease relationship. More evidence is needed to support the relationship of NEBL and autosomal dominant DCM. This classification was approved by the ClinGen Dilated Cardiomyopathy Working Group on October 11, 2019 (SOP Version 7).\r\nGene Clinical Validity Standard Operating Procedures (SOP) - SOP7",
"entity_name": "NEBL",
"entity_type": "gene"
},
{
"created": "2021-11-18T12:54:41.865561+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nebl has been classified as Amber List (Moderate Evidence).",
"entity_name": "NEBL",
"entity_type": "gene"
},
{
"created": "2021-11-18T12:03:40.025382+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPATA5L1 as ready",
"entity_name": "SPATA5L1",
"entity_type": "gene"
},
{
"created": "2021-11-18T12:03:40.013176+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spata5l1 has been classified as Green List (High Evidence).",
"entity_name": "SPATA5L1",
"entity_type": "gene"
},
{
"created": "2021-11-18T12:02:38.822811+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPATA5L1 as Green List (high evidence)",
"entity_name": "SPATA5L1",
"entity_type": "gene"
},
{
"created": "2021-11-18T12:02:38.813950+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spata5l1 has been classified as Green List (High Evidence).",
"entity_name": "SPATA5L1",
"entity_type": "gene"
},
{
"created": "2021-11-18T12:02:09.395062+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPATA5L1 was added\ngene: SPATA5L1 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPATA5L1 were set to 34626583\nPhenotypes for gene: SPATA5L1 were set to Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616; Deafness, autosomal recessive 119, MIM# 619615\nReview for gene: SPATA5L1 was set to GREEN\nAdded comment: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly. \r\n\r\nNote some of the affected individuals had isolated deafness, hence two OMIM phenotypes have been associated with this gene. All were of Ashkenazi Jewish origin, and had the p.Ile466Met founder variant, compound het with another variant. \nSources: Literature",
"entity_name": "SPATA5L1",
"entity_type": "gene"
},
{
"created": "2021-11-18T12:00:23.176564+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPATA5L1 were changed from Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss to Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616",
"entity_name": "SPATA5L1",
"entity_type": "gene"
},
{
"created": "2021-11-18T12:00:04.472413+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPATA5L1",
"entity_type": "gene"
},
{
"created": "2021-11-18T11:59:30.393391+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPATA5L1 were changed from Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss to Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616",
"entity_name": "SPATA5L1",
"entity_type": "gene"
},
{
"created": "2021-11-18T11:58:52.112109+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPATA5L1",
"entity_type": "gene"
},
{
"created": "2021-11-18T11:58:30.388850+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPATA5L1 were changed from Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss to Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616",
"entity_name": "SPATA5L1",
"entity_type": "gene"
},
{
"created": "2021-11-18T11:57:57.909529+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPATA5L1",
"entity_type": "gene"
},
{
"created": "2021-11-18T11:57:20.675799+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPATA5L1 were changed from Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss to Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616",
"entity_name": "SPATA5L1",
"entity_type": "gene"
},
{
"created": "2021-11-18T11:56:49.785821+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPATA5L1",
"entity_type": "gene"
},
{
"created": "2021-11-18T11:56:32.982897+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPATA5L1 were changed from Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss to Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616",
"entity_name": "SPATA5L1",
"entity_type": "gene"
},
{
"created": "2021-11-18T11:55:56.737140+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPATA5L1",
"entity_type": "gene"
},
{
"created": "2021-11-18T11:55:12.014297+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPATA5L1 were changed from Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss to Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616; Deafness, autosomal recessive 119, MIM# 619615",
"entity_name": "SPATA5L1",
"entity_type": "gene"
},
{
"created": "2021-11-18T11:54:46.629879+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Note some of the affected individuals had isolated deafness, hence two OMIM phenotypes have been associated with this gene. All were of Ashkenazi Jewish origin, and had the p.Ile466Met founder variant, either hmz or compound het with another variant.; to: Note some of the affected individuals had isolated deafness, hence two OMIM phenotypes have been associated with this gene. All were of Ashkenazi Jewish origin, and had the p.Ile466Met founder variant, compound het with another variant.",
"entity_name": "SPATA5L1",
"entity_type": "gene"
},
{
"created": "2021-11-18T11:54:24.458129+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPATA5L1: Added comment: Note some of the affected individuals had isolated deafness, hence two OMIM phenotypes have been associated with this gene. All were of Ashkenazi Jewish origin, and had the p.Ile466Met founder variant, either hmz or compound het with another variant.; Changed publications: 34626583; Changed phenotypes: Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616, Deafness, autosomal recessive 119, MIM# 619615",
"entity_name": "SPATA5L1",
"entity_type": "gene"
},
{
"created": "2021-11-18T11:52:11.749751+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPATA5L1",
"entity_type": "gene"
},
{
"created": "2021-11-18T11:29:20.902202+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MEIS2 as ready",
"entity_name": "MEIS2",
"entity_type": "gene"
},
{
"created": "2021-11-18T11:29:20.886701+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: meis2 has been classified as Green List (High Evidence).",
"entity_name": "MEIS2",
"entity_type": "gene"
},
{
"created": "2021-11-18T11:29:18.520508+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MEIS2 were changed from to Cleft palate, cardiac defects, and mental retardation (MIM#600987)",
"entity_name": "MEIS2",
"entity_type": "gene"
},
{
"created": "2021-11-18T11:28:53.218555+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MEIS2 were set to ",
"entity_name": "MEIS2",
"entity_type": "gene"
},
{
"created": "2021-11-18T11:28:22.870820+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MEIS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MEIS2",
"entity_type": "gene"
},
{
"created": "2021-11-18T11:27:50.642616+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MEIS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33427397, 25712757; Phenotypes: Cleft palate, cardiac defects, and mental retardation (MIM#600987); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MEIS2",
"entity_type": "gene"
},
{
"created": "2021-11-18T11:26:52.537727+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MEIS2 as ready",
"entity_name": "MEIS2",
"entity_type": "gene"
},
{
"created": "2021-11-18T11:26:52.527191+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: meis2 has been classified as Green List (High Evidence).",
"entity_name": "MEIS2",
"entity_type": "gene"
},
{
"created": "2021-11-18T11:26:48.171240+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MEIS2 were set to 30055086; 27225850; 25712757; 24678003; 30291340",
"entity_name": "MEIS2",
"entity_type": "gene"
}
]
}