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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=928",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=926",
"results": [
{
"created": "2022-03-20T13:17:25.158157+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLITRK1: Rating: RED; Mode of pathogenicity: None; Publications: 17304708, 35140465, 26317387; Phenotypes: Tourette syndrome, MIM# 137580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLITRK1",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:12:11.977562+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLCO1B3 as ready",
"entity_name": "SLCO1B3",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:12:11.964287+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slco1b3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLCO1B3",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:12:03.819325+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLCO1B3 were changed from to Hyperbilirubinemia, Rotor type, digenic, MIM# 237450",
"entity_name": "SLCO1B3",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:11:43.146293+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLCO1B3 were set to ",
"entity_name": "SLCO1B3",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:11:36.889586+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLCO1B1 were set to 30250148; 24918167",
"entity_name": "SLCO1B1",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:11:14.427341+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLCO1B1 was changed from Unknown to Other",
"entity_name": "SLCO1B1",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:10:56.909055+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLCO1B1 as Amber List (moderate evidence)",
"entity_name": "SLCO1B1",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:10:56.898499+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slco1b1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLCO1B1",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:10:32.731074+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SLCO1B1",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:10:26.462823+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLCO1B1: Added comment: Digenic inheritance proposed, with variants in SLCO1B3 also required.; Changed rating: AMBER; Changed publications: 33860121; Changed phenotypes: Hyperbilirubinemia, Rotor type, digenic 237450; Changed mode of inheritance: Other",
"entity_name": "SLCO1B1",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:10:06.726310+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLCO1B3 was changed from Unknown to Other",
"entity_name": "SLCO1B3",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:09:37.952154+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLCO1B3 as Amber List (moderate evidence)",
"entity_name": "SLCO1B3",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:09:37.941296+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slco1b3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLCO1B3",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:09:21.130186+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLCO1B3: Rating: AMBER; Mode of pathogenicity: None; Publications: 33860121; Phenotypes: Hyperbilirubinemia, Rotor type, digenic, MIM# 237450; Mode of inheritance: Other",
"entity_name": "SLCO1B3",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:03:37.688342+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC9A9 as ready",
"entity_name": "SLC9A9",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:03:37.676875+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc9a9 has been classified as Red List (Low Evidence).",
"entity_name": "SLC9A9",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:03:29.661336+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC9A9 were changed from to Autism susceptibility 16, MIM# 613410",
"entity_name": "SLC9A9",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:03:01.220647+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC9A9 were set to ",
"entity_name": "SLC9A9",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:02:36.325428+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC9A9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC9A9",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:02:14.589469+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC9A9 as Red List (low evidence)",
"entity_name": "SLC9A9",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:02:14.577502+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc9a9 has been classified as Red List (Low Evidence).",
"entity_name": "SLC9A9",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:01:36.827135+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC9A9 as Red List (low evidence)",
"entity_name": "SLC9A9",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:01:36.805677+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc9a9 has been classified as Red List (Low Evidence).",
"entity_name": "SLC9A9",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:00:42.262428+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Several families and animal model data. \nSources: Expert list; to: DISPUTED by ClinGen:\r\n\r\nSLC9A9 was first reported in relation to autism spectrum disorder in 2008 (Morrow et al., 2008 PMID: 18621663). A homozygous deletion upstream of SLC9A9 (also known as NHE9) as well as several heterozygous variants (one nonsense and several missense) were reported in this gene; the sequence variants were later found to have high population frequencies in gnomAD.\r\n\r\nAccording to gnomAD (v.2.1.1), SLC9A9 is not constrained for loss of function variants (pLI=0) or missense variants (z-score=-0.25).\r\n\r\nPreviously, a pericentric inversion of chromosome 3 disrupting SLC9A9 was reported in an extended pedigree with intellectual disability and behavioral problems (PMID: 14569117). The other inversion breakpoint affected DOCK3, a brain-expressed gene involved in neurodevelopmental disorders, and the inversion did not always segregate with the phenotype, therefore this family was not scored. An inherited exonic deletion of SLC9A9 is reported in an individual with autism spectrum disorder and epilepsy (PMID: 27123481). Two nonsense variants in individuals with autism spectrum disorder, including one reported several times in gnomAD are reported in PMID: 26185613.\r\n\r\nOverall, variants are inherited and/or at high pop frequency, not consistent with Mendelian disease.",
"entity_name": "SLC9A9",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:00:26.308619+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC9A9: Changed rating: RED",
"entity_name": "SLC9A9",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:00:10.330785+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC9A9: Rating: RED; Mode of pathogenicity: None; Publications: 18621663, 14569117, 27123481, 26185613; Phenotypes: Autism susceptibility 16, MIM# 613410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC9A9",
"entity_type": "gene"
},
{
"created": "2022-03-20T12:48:36.699768+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC7A9 as ready",
"entity_name": "SLC7A9",
"entity_type": "gene"
},
{
"created": "2022-03-20T12:48:36.689123+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc7a9 has been classified as Green List (High Evidence).",
"entity_name": "SLC7A9",
"entity_type": "gene"
},
{
"created": "2022-03-20T12:48:26.384618+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC7A9 were changed from to Cystinuria, MIM# 220100",
"entity_name": "SLC7A9",
"entity_type": "gene"
},
{
"created": "2022-03-20T12:48:06.294625+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC7A9 were set to ",
"entity_name": "SLC7A9",
"entity_type": "gene"
},
{
"created": "2022-03-20T12:47:45.745613+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC7A9 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC7A9",
"entity_type": "gene"
},
{
"created": "2022-03-20T12:47:02.229897+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC7A9: Rating: GREEN; Mode of pathogenicity: None; Publications: 10471498; Phenotypes: Cystinuria, MIM# 220100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC7A9",
"entity_type": "gene"
},
{
"created": "2022-03-20T12:45:00.417564+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC6A9 as ready",
"entity_name": "SLC6A9",
"entity_type": "gene"
},
{
"created": "2022-03-20T12:45:00.405522+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a9 has been classified as Green List (High Evidence).",
"entity_name": "SLC6A9",
"entity_type": "gene"
},
{
"created": "2022-03-20T12:44:41.846443+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC6A9 were changed from to Glycine encephalopathy with normal serum glycine, MIM# 617301",
"entity_name": "SLC6A9",
"entity_type": "gene"
},
{
"created": "2022-03-20T12:44:13.725509+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC6A9 were set to ",
"entity_name": "SLC6A9",
"entity_type": "gene"
},
{
"created": "2022-03-20T12:43:44.527017+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC6A9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC6A9",
"entity_type": "gene"
},
{
"created": "2022-03-20T12:42:54.585164+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC6A9: Rating: GREEN; Mode of pathogenicity: None; Publications: 27481395, 27773429, 14622582, 33269555; Phenotypes: Glycine encephalopathy with normal serum glycine, MIM# 617301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC6A9",
"entity_type": "gene"
},
{
"created": "2022-03-20T12:37:09.103148+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC6A8 as ready",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2022-03-20T12:37:09.092197+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a8 has been classified as Green List (High Evidence).",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2022-03-20T12:36:41.488457+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC6A8 were changed from to Cerebral creatine deficiency syndrome 1, MIM# 300352",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2022-03-20T12:36:21.130587+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC6A8 were set to ",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2022-03-20T12:36:01.259985+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC6A8 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2022-03-19T16:05:09.027662+11:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ENPP1 as ready",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2022-03-19T16:05:09.017781+11:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: enpp1 has been classified as Green List (High Evidence).",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2022-03-19T14:00:19.286076+11:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ENPP1 were changed from to Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:59:51.912588+11:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ENPP1 were set to ",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:59:23.132751+11:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ENPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:58:52.524106+11:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20016754, 20137773, 20137772; Phenotypes: Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:57:53.065945+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ENPP1 were changed from to Arterial calcification, generalized, of infancy, 1, MIM# 208000; Cole disease, MIM# 615522; Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:57:33.327367+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ENPP1 were set to ",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:57:11.998826+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ENPP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:56:53.644540+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24075184, 26617416, 28964717, 32598042, 35220637, 12881724, 15605415, 33005041, 20016754, 20137773, 20137772; Phenotypes: Arterial calcification, generalized, of infancy, 1, MIM# 208000, Cole disease, MIM# 615522, Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:36:42.896850+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VMA21 as ready",
"entity_name": "VMA21",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:36:42.885980+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vma21 has been classified as Green List (High Evidence).",
"entity_name": "VMA21",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:36:29.747031+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VMA21 were changed from to Myopathy, X-linked, with excessive autophagy, MIM# 310440",
"entity_name": "VMA21",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:36:00.674051+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VMA21 were set to ",
"entity_name": "VMA21",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:35:29.670260+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VMA21 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "VMA21",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:35:08.707263+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag deep intronic tag was added to gene: VMA21.",
"entity_name": "VMA21",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:34:55.181256+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VMA21: Rating: GREEN; Mode of pathogenicity: None; Publications: 27916343, 25809233, 23315026; Phenotypes: Myopathy, X-linked, with excessive autophagy, MIM# 310440; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "VMA21",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:29:53.404363+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS33B as ready",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:29:53.393055+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps33b has been classified as Green List (High Evidence).",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:29:45.843488+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS33B were changed from to Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085)",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:29:26.449922+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VPS33B were set to ",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:29:05.945230+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VPS33B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:28:47.084672+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31240160, 31777725, 24415890, 15052268; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:28:06.867586+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS35 as ready",
"entity_name": "VPS35",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:28:06.856510+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps35 has been classified as Green List (High Evidence).",
"entity_name": "VPS35",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:27:48.186426+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS35 were changed from to Parkinson disease 17, MIM# 614203",
"entity_name": "VPS35",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:27:12.450274+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VPS35 were set to ",
"entity_name": "VPS35",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:26:35.232346+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VPS35 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VPS35",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:25:57.629982+11:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VPS35: Rating: GREEN; Mode of pathogenicity: None; Publications: 21763482, 21763483, 22801713, 34704029; Phenotypes: Parkinson disease 17, MIM# 614203; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VPS35",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:25:13.976113+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS35 as ready",
"entity_name": "VPS35",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:25:13.966635+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps35 has been classified as Green List (High Evidence).",
"entity_name": "VPS35",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:25:05.627635+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS35 were changed from to Parkinson disease 17, MIM# 614203",
"entity_name": "VPS35",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:24:46.843822+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VPS35 were set to ",
"entity_name": "VPS35",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:24:26.500615+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VPS35 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VPS35",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:24:05.840576+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: VPS35: Changed rating: GREEN",
"entity_name": "VPS35",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:23:56.885332+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VPS35: Rating: ; Mode of pathogenicity: None; Publications: 21763482, 21763483, 22801713, 34704029; Phenotypes: Parkinson disease 17, MIM# 614203; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VPS35",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:17:06.897566+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VSX1 as ready",
"entity_name": "VSX1",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:17:06.884808+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vsx1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "VSX1",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:16:59.844711+11:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VSX1 were set to ",
"entity_name": "VSX1",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:16:37.318226+11:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VSX1 as Amber List (moderate evidence)",
"entity_name": "VSX1",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:16:37.308377+11:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vsx1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "VSX1",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:16:30.204892+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VSX1 were changed from to Keratoconus 1, MIM# 148300",
"entity_name": "VSX1",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:16:07.845559+11:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Keratoconus is a corneal dystrophy.; to: Keratoconus is a corneal dystrophy. Some of the variants reported have a high population frequency, more consistent with a risk allele rather than a Mendelian gene-disease association.",
"entity_name": "VSX1",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:15:40.551309+11:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: VSX1: Changed rating: AMBER; Changed publications: 11978762, 35296157, 30574758, 30535423, 25963163",
"entity_name": "VSX1",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:15:40.103397+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VSX1 were set to ",
"entity_name": "VSX1",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:15:23.054484+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VSX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VSX1",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:15:05.723954+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VSX1 as Amber List (moderate evidence)",
"entity_name": "VSX1",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:15:05.712833+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vsx1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "VSX1",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:14:47.096730+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VSX1: Rating: AMBER; Mode of pathogenicity: None; Publications: 11978762, 35296157, 30574758, 30535423, 25963163; Phenotypes: Keratoconus 1, MIM# 148300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VSX1",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:07:59.558479+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VWF as ready",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:07:59.548635+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vwf has been classified as Green List (High Evidence).",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:07:51.440412+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VWF were changed from to von Willebrand disease, type 1, MIM# 193400; von Willebrand disease, type 3 , MIM#277480; von Willebrand disease, types 2A, 2B, 2M, and 2N, MIM# 613554",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:07:30.190970+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VWF was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:07:10.322831+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VWF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: von Willebrand disease, type 1, MIM# 193400, von Willebrand disease, type 3 , MIM#277480, von Willebrand disease, types 2A, 2B, 2M, and 2N, MIM# 613554; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:04:14.968826+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VKORC1 as ready",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2022-03-19T13:04:14.955658+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vkorc1 has been classified as Green List (High Evidence).",
"entity_name": "VKORC1",
"entity_type": "gene"
}
]
}