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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=358",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=356",
"results": [
{
"created": "2024-10-30T17:59:28.233641+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLRN1 were set to ",
"entity_name": "CLRN1",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:58:58.126755+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL27A1 as ready",
"entity_name": "COL27A1",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:58:58.113585+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col27a1 has been classified as Green List (High Evidence).",
"entity_name": "COL27A1",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:58:54.297836+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL27A1 were changed from Steel Syndrome to Steel Syndrome, MIM#615155",
"entity_name": "COL27A1",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:58:39.778643+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL27A1 were set to ",
"entity_name": "COL27A1",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:58:07.973212+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DARS2 as ready",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:58:07.955517+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dars2 has been classified as Green List (High Evidence).",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:58:04.344589+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DARS2 were set to ",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:57:37.058067+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDC as ready",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:57:37.047795+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddc has been classified as Green List (High Evidence).",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:57:34.155144+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDC were changed from Aromatic L-amino acid decarboxylase deficiency, 608643 (3) to Aromatic L-amino acid decarboxylase deficiency 608643; Aromatic L-amino acid decarboxylase deficiency (MIM#608643)",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:57:00.993436+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLD as ready",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:57:00.982605+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dld has been classified as Green List (High Evidence).",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:56:57.093804+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DLD were set to ",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:56:36.492601+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAJC19 as ready",
"entity_name": "DNAJC19",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:56:36.467862+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnajc19 has been classified as Green List (High Evidence).",
"entity_name": "DNAJC19",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:56:29.634773+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAJC19 were set to ",
"entity_name": "DNAJC19",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:56:08.420685+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNMT3B as ready",
"entity_name": "DNMT3B",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:56:08.406310+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnmt3b has been classified as Green List (High Evidence).",
"entity_name": "DNMT3B",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:55:52.708621+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DONSON as ready",
"entity_name": "DONSON",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:55:52.690923+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: donson has been classified as Green List (High Evidence).",
"entity_name": "DONSON",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:55:49.850918+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DONSON were changed from Microcephaly, short stature, and limb abnormalities, 617604 (3), Autosomal recessive to Microcephaly-micromelia syndrome (MIM#251230); Microcephaly, short stature, and limb abnormalities (MIM#617604)",
"entity_name": "DONSON",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:55:37.559142+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DONSON were set to ",
"entity_name": "DONSON",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:55:11.004849+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COX15 as ready",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:55:10.987354+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox15 has been classified as Green List (High Evidence).",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:55:04.121950+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COX15 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3) to Mitochondrial complex IV deficiency, nuclear type 6, MIM #615119",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:54:49.956147+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COX15 were set to ",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:54:23.981386+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTPS1 as ready",
"entity_name": "CTPS1",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:54:23.966626+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctps1 has been classified as Green List (High Evidence).",
"entity_name": "CTPS1",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:54:19.465415+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CTPS1 were set to ",
"entity_name": "CTPS1",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:51:24.645933+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ11 were changed from to {Diabetes mellitus, type 2, susceptibility to} 125853; Diabetes mellitus, transient neonatal, 3 610582; Diabetes, permanent neonatal, with or without neurologic features 606176; Hyperinsulinemic hypoglycemia, familial, 2 601820; Maturity-onset diabetes of the young, type 13 616329 AD",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:50:16.506597+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNJ11 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:49:31.019911+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ11 as ready",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:49:31.005642+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj11 has been classified as Red List (Low Evidence).",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:47:28.363991+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YAP1 as ready",
"entity_name": "YAP1",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:47:28.334661+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yap1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "YAP1",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:47:22.457453+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: YAP1 were changed from to Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation OMIM #120433",
"entity_name": "YAP1",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:46:37.544110+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: YAP1 were set to ",
"entity_name": "YAP1",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:45:53.776305+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: YAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "YAP1",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:44:52.211891+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGFB1 as ready",
"entity_name": "TGFB1",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:44:52.199259+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgfb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TGFB1",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:44:19.440614+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RSPRY1 as ready",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:44:19.425494+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rspry1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:43:53.735171+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB1A as ready",
"entity_name": "RAB1A",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:43:53.718445+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab1a has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAB1A",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:43:25.609702+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUP85 as ready",
"entity_name": "NUP85",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:43:25.594744+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup85 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NUP85",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:42:05.290462+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNB4 as ready",
"entity_name": "CACNB4",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:42:05.268526+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacnb4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CACNB4",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:41:02.281154+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AASS as ready",
"entity_name": "AASS",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:41:02.262316+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aass has been classified as Amber List (Moderate Evidence).",
"entity_name": "AASS",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:38:47.615352+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUOX as ready",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:38:47.593660+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: suox has been classified as Green List (High Evidence).",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:38:39.982950+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUOX were changed from to isolated sulfite oxidase deficiency MONDO:0010089",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:37:58.779999+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SUOX were set to ",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:37:14.448102+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SUOX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:36:09.353466+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPTBN2 as ready",
"entity_name": "SPTBN2",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:36:09.338467+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptbn2 has been classified as Green List (High Evidence).",
"entity_name": "SPTBN2",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:36:05.901040+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPTBN2 were changed from to Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386; Spinocerebellar ataxia 5, MIM# 600224",
"entity_name": "SPTBN2",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:35:28.198226+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPTBN2 were set to ",
"entity_name": "SPTBN2",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:33:44.796711+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC6A19 as ready",
"entity_name": "SLC6A19",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:33:44.786120+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a19 has been classified as Green List (High Evidence).",
"entity_name": "SLC6A19",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:33:31.577363+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC6A19 were changed from to Hartnup disorder, MIM# 234500",
"entity_name": "SLC6A19",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:32:47.272909+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC6A19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC6A19",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:32:10.425781+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: SLC6A19: Well established gene-disease association with several neurological manifestations, including DD.",
"entity_name": "SLC6A19",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:31:10.063608+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC6A19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hartnup disorder, MIM# 234500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC6A19",
"entity_type": "gene"
},
{
"created": "2024-10-30T17:07:21.484802+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.486",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: CTPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24870241; Phenotypes: Immunodeficiency 24, MIM #615897; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTPS1",
"entity_type": "gene"
},
{
"created": "2024-10-30T16:39:56.704890+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.486",
"user_name": "Kate Scarff",
"item_type": "entity",
"text": "reviewed gene: COX15: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15235026, 12474143, 32232962; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 6, MIM #615119; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2024-10-30T11:04:41.238266+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHX9 were changed from Intellectual developmental disorder, autosomal dominant 75, MIM# 620988 to Intellectual developmental disorder, autosomal dominant 75, MIM# 620988",
"entity_name": "DHX9",
"entity_type": "gene"
},
{
"created": "2024-10-30T11:00:32.794781+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHX9 were changed from Neurodevelopmental disorder, MONDO:0700092, DHX9-related to Intellectual developmental disorder, autosomal dominant 75, MIM# 620988",
"entity_name": "DHX9",
"entity_type": "gene"
},
{
"created": "2024-10-30T10:59:50.231915+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DHX9: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 75, MIM# 620988",
"entity_name": "DHX9",
"entity_type": "gene"
},
{
"created": "2024-10-30T10:59:26.411204+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHX9 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071; Charcot-Marie-Tooth disease, MONDO:0015626 to Intellectual developmental disorder, autosomal dominant 75, MIM# 620988; Charcot-Marie-Tooth disease, MONDO:0015626",
"entity_name": "DHX9",
"entity_type": "gene"
},
{
"created": "2024-10-30T10:58:57.151168+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DHX9: Changed rating: GREEN; Changed phenotypes: Intellectual developmental disorder, autosomal dominant 75, MIM# 620988; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DHX9",
"entity_type": "gene"
},
{
"created": "2024-10-30T10:42:03.455790+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANKRD31 as ready",
"entity_name": "ANKRD31",
"entity_type": "gene"
},
{
"created": "2024-10-30T10:42:03.444214+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ankrd31 has been classified as Red List (Low Evidence).",
"entity_name": "ANKRD31",
"entity_type": "gene"
},
{
"created": "2024-10-30T10:38:32.045669+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANKRD31 were changed from to Neurodevelopmental disorder, MONDO:0700092, ANKRD31-related",
"entity_name": "ANKRD31",
"entity_type": "gene"
},
{
"created": "2024-10-30T10:35:05.413177+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ANKRD31 as Red List (low evidence)",
"entity_name": "ANKRD31",
"entity_type": "gene"
},
{
"created": "2024-10-30T10:35:05.382196+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ankrd31 has been classified as Red List (Low Evidence).",
"entity_name": "ANKRD31",
"entity_type": "gene"
},
{
"created": "2024-10-30T10:34:00.089495+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6604",
"user_name": "Megan Ball",
"item_type": "entity",
"text": "gene: ANKRD31 was added\ngene: ANKRD31 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ANKRD31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANKRD31 were set to 27541642\nReview for gene: ANKRD31 was set to RED\nAdded comment: 1 individual with Rett-like phenotype. De novo missense. C.196A>T, p.Ile66Phe. Onset of features at 3 years, delayed ambulation, epilepsy, developmental regression, stereotypies, non-verbal. 17 years old at time of publication. A C.elegans model of ANKRD31 with a deletion showed significantly defective locomotion and asymmetric dynamics of axonal and dendritic microtubule defects. \nSources: Literature",
"entity_name": "ANKRD31",
"entity_type": "gene"
},
{
"created": "2024-10-29T14:28:46.791871+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.486",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: DONSON: Rating: GREEN; Mode of pathogenicity: None; Publications: 31191207, 29760432; Phenotypes: Microcephaly-micromelia syndrome (MIM#251230), Microcephaly, short stature, and limb abnormalities (MIM#617604); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DONSON",
"entity_type": "gene"
},
{
"created": "2024-10-29T14:18:47.665240+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.486",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: DNMT3B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (MIM#242860); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNMT3B",
"entity_type": "gene"
},
{
"created": "2024-10-29T10:01:07.435517+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.486",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: DNAJC19: Rating: GREEN; Mode of pathogenicity: None; Publications: 35611801, 27928778; Phenotypes: 3-methylglutaconic aciduria, type V (MIM#610198); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAJC19",
"entity_type": "gene"
},
{
"created": "2024-10-29T09:53:16.787872+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.486",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: DLD: Rating: GREEN; Mode of pathogenicity: None; Publications: 39040027; Phenotypes: Dihydrolipoamide dehydrogenase deficiency (MIM#246900); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2024-10-29T08:34:06.635098+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.486",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aromatic L-amino acid decarboxylase deficiency 608643Aromatic L-amino acid decarboxylase deficiency (MIM#608643); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2024-10-29T08:28:07.318981+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.486",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 35820270; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (MIM#611105); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2024-10-28T19:12:26.938513+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC35A2 as ready",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2024-10-28T19:12:26.923503+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc35a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2024-10-28T19:12:19.144517+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC35A2 were changed from to Congenital disorder of glycosylation, type IIm (MIM #300896) 30817854; Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2024-10-28T19:11:32.296866+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC35A2 were set to ",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2024-10-28T19:10:47.894296+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC35A2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2024-10-28T19:10:10.426282+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: SLC35A2.",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2024-10-28T19:09:59.589487+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC35A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561849, 24115232, 27743886, 25778940, 33407896; Phenotypes: Congenital disorder of glycosylation, type IIm (MIM #300896) 30817854, Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2024-10-28T18:37:22.526253+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC33A1 as ready",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2024-10-28T18:37:22.514685+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc33a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2024-10-28T18:37:17.567786+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC33A1 as Green List (high evidence)",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2024-10-28T18:37:17.551857+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc33a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2024-10-28T18:36:36.772763+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC33A1 was added\ngene: SLC33A1 was added to Deafness_IsolatedAndComplex. Sources: Expert Review\nMode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC33A1 were set to 31194315\nPhenotypes for gene: SLC33A1 were set to Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482\nReview for gene: SLC33A1 was set to GREEN\nAdded comment: Multiple families reported. Deafness is part of the phenotype. \nSources: Expert Review",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2024-10-28T18:35:06.723890+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC33A1 as ready",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2024-10-28T18:35:06.711859+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc33a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2024-10-28T18:35:03.961636+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC33A1 were changed from to Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482",
"entity_name": "SLC33A1",
"entity_type": "gene"
}
]
}