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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=476",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=474",
"results": [
{
"created": "2024-04-02T21:54:12.199406+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: thap11 has been classified as Red List (Low Evidence).",
"entity_name": "THAP11",
"entity_type": "gene"
},
{
"created": "2024-04-02T21:51:02.312955+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "THAP11",
"entity_type": "gene"
},
{
"created": "2024-04-02T21:49:59.179042+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: THAP11 was added\ngene: THAP11 was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature\nMode of inheritance for gene: THAP11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: THAP11 were set to 28449119\nPhenotypes for gene: THAP11 were set to Methylmalonic aciduria and homocystinuria MONDO:0016826\nReview for gene: THAP11 was set to RED\nAdded comment: Sources: Literature",
"entity_name": "THAP11",
"entity_type": "gene"
},
{
"created": "2024-04-02T21:43:47.398503+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HCFC1 was added\ngene: HCFC1 was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature\nMode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: HCFC1 were set to 24011988\nPhenotypes for gene: HCFC1 were set to methylmalonic acidemia with homocystinuria, type cblX MONDO:0010657; disorder of cobalamin metabolism\nReview for gene: HCFC1 was set to GREEN\ngene: HCFC1 was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2024-04-02T21:40:48.588115+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ABCD4 was added\ngene: ABCD4 was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature\nMode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABCD4 were set to 22922874; 31113616; 30651581; 28572511\nPhenotypes for gene: ABCD4 were set to Methylmalonic aciduria and homocystinuria, cblJ type\tMIM#614857\nReview for gene: ABCD4 was set to GREEN\ngene: ABCD4 was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2024-04-02T21:38:46.219542+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MTR was added\ngene: MTR was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature\nMode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTR were set to 8968735; 27604308\nPhenotypes for gene: MTR were set to Homocystinuria-megaloblastic anemia, cblG complementation type MIM#250940; Organic aciduria\nReview for gene: MTR was set to GREEN\ngene: MTR was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2024-04-02T21:34:54.567994+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LMBRD1 was added\ngene: LMBRD1 was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature\nMode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LMBRD1 were set to 19136951; 27604308\nPhenotypes for gene: LMBRD1 were set to Methylmalonic aciduria and homocystinuria, cblF type MIM#277380; Disorders of cobalamin absorption, transport and metabolism\nReview for gene: LMBRD1 was set to GREEN\ngene: LMBRD1 was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2024-04-02T21:30:23.351259+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MTRR was added\ngene: MTRR was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature\nMode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTRR were set to 27604308; 9501215\nPhenotypes for gene: MTRR were set to Homocystinuria-megaloblastic anemia, cbl E type MIM#236270; Disorders of the metabolism of sulphur amino acids\nReview for gene: MTRR was set to GREEN\ngene: MTRR was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2024-04-02T21:28:43.072064+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MMADHC was added\ngene: MMADHC was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature\nMode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMADHC were set to 27604308; 18385497\nPhenotypes for gene: MMADHC were set to Homocystinuria, cblD type, variant 1 MIM#277410; Methylmalonic aciduria and homocystinuria, cblD type MIM#277410; Methylmalonic aciduria, cblD type, variant 2 MIM#277410; Disorders of cobalamin absorption, transport and metabolism\nReview for gene: MMADHC was set to GREEN\ngene: MMADHC was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "MMADHC",
"entity_type": "gene"
},
{
"created": "2024-04-02T21:26:18.465456+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1631",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PRDX1 as ready",
"entity_name": "PRDX1",
"entity_type": "gene"
},
{
"created": "2024-04-02T21:26:18.454415+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1631",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: prdx1 has been classified as Green List (High Evidence).",
"entity_name": "PRDX1",
"entity_type": "gene"
},
{
"created": "2024-04-02T21:25:44.496409+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1631",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PRDX1 as Green List (high evidence)",
"entity_name": "PRDX1",
"entity_type": "gene"
},
{
"created": "2024-04-02T21:25:44.484523+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1631",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: prdx1 has been classified as Green List (High Evidence).",
"entity_name": "PRDX1",
"entity_type": "gene"
},
{
"created": "2024-04-02T21:25:27.476147+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1630",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRDX1 was added\ngene: PRDX1 was added to Mendeliome. Sources: Literature\ndigenic tags were added to gene: PRDX1.\nMode of inheritance for gene: PRDX1 was set to Other\nPublications for gene: PRDX1 were set to 29302025; 35190856\nPhenotypes for gene: PRDX1 were set to methylmalonic aciduria and homocystinuria type cblC MONDO:0010184\nMode of pathogenicity for gene: PRDX1 was set to Other\nReview for gene: PRDX1 was set to GREEN\nAdded comment: Only variants affecting the canonical splice acceptor site of intron 5 (e.g. c.515-1G-T, c.515-2A-T) that cause skipping of exon 6 and the polyA termination signal of PRDX1 produce an MMACHC epimutation. The resulting read-through transcript extends through the adjacent MMACHC locus in the antisense orientation. These PRDX1 exon 6 acceptor splice site variants cause disease through digenic inheritance with a pathogenic MMACHC on the other allele. \nSources: Literature",
"entity_name": "PRDX1",
"entity_type": "gene"
},
{
"created": "2024-04-02T21:23:08.258790+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PRDX1 as ready",
"entity_name": "PRDX1",
"entity_type": "gene"
},
{
"created": "2024-04-02T21:23:08.247251+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: prdx1 has been classified as Green List (High Evidence).",
"entity_name": "PRDX1",
"entity_type": "gene"
},
{
"created": "2024-04-02T21:23:01.472811+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PRDX1 as Green List (high evidence)",
"entity_name": "PRDX1",
"entity_type": "gene"
},
{
"created": "2024-04-02T21:23:01.463541+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: prdx1 has been classified as Green List (High Evidence).",
"entity_name": "PRDX1",
"entity_type": "gene"
},
{
"created": "2024-04-02T21:22:19.650557+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag digenic tag was added to gene: PRDX1.",
"entity_name": "PRDX1",
"entity_type": "gene"
},
{
"created": "2024-04-02T21:22:01.117252+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRDX1 was added\ngene: PRDX1 was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature\nMode of inheritance for gene: PRDX1 was set to Other\nPublications for gene: PRDX1 were set to 29302025; 35190856\nPhenotypes for gene: PRDX1 were set to methylmalonic aciduria and homocystinuria type cblC MONDO:0010184\nMode of pathogenicity for gene: PRDX1 was set to Other\nReview for gene: PRDX1 was set to GREEN\nAdded comment: Only variants affecting the canonical splice acceptor site of intron 5 (e.g. c.515-1G-T, c.515-2A-T) that cause skipping of exon 6 and the polyA termination signal of PRDX1 produce an MMACHC epimutation. The resulting read-through transcript extends through the adjacent MMACHC locus in the antisense orientation. These PRDX1 exon 6 acceptor splice site variants cause disease through digenic inheritance with a pathogenic MMACHC on the other allele. \nSources: Literature",
"entity_name": "PRDX1",
"entity_type": "gene"
},
{
"created": "2024-04-02T21:03:45.287971+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MMACHC was added\ngene: MMACHC was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature\nMode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMACHC were set to 27604308; 16311595\nPhenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type MIM#277400; Disorders of cobalamin absorption, transport and metabolism\nReview for gene: MMACHC was set to GREEN\ngene: MMACHC was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2024-04-02T20:58:39.060372+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MMAB as ready",
"entity_name": "MMAB",
"entity_type": "gene"
},
{
"created": "2024-04-02T20:58:39.049397+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mmab has been classified as Green List (High Evidence).",
"entity_name": "MMAB",
"entity_type": "gene"
},
{
"created": "2024-04-02T20:58:35.712540+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MMAB as Green List (high evidence)",
"entity_name": "MMAB",
"entity_type": "gene"
},
{
"created": "2024-04-02T20:58:35.700126+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mmab has been classified as Green List (High Evidence).",
"entity_name": "MMAB",
"entity_type": "gene"
},
{
"created": "2024-04-02T20:58:26.999126+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MMAB was added\ngene: MMAB was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature\nMode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMAB were set to 12471062; 20556797; 35712814; 24813872\nPhenotypes for gene: MMAB were set to methylmalonic aciduria, cblB type MONDO:0009614\nReview for gene: MMAB was set to GREEN\ngene: MMAB was marked as current diagnostic\nAdded comment: Well-established gene-disease association. Inborn error of cobalamin metabolism. \nSources: Literature",
"entity_name": "MMAB",
"entity_type": "gene"
},
{
"created": "2024-04-02T20:50:34.986000+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AMN was added\ngene: AMN was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature\nMode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AMN were set to 12590260; 27604308\nPhenotypes for gene: AMN were set to Imerslund-Grasbeck syndrome 2 MIM#618882; Disorders of cobalamin absorption, transport and metabolism\nReview for gene: AMN was set to GREEN\ngene: AMN was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2024-04-02T20:48:25.770638+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CUBN was added\ngene: CUBN was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature\nMode of inheritance for gene: CUBN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CUBN were set to 10080186; 31613795\nPhenotypes for gene: CUBN were set to Proteinuria, chronic benign MIM#618884; Imerslund-Grasbeck syndrome 1 MIM#261100; Intrinsic factor receptor deficiency due to CUBN mutations (Disorders of cobalamin absorption, transport and metabolism)\nReview for gene: CUBN was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "CUBN",
"entity_type": "gene"
},
{
"created": "2024-04-02T18:25:27.354558+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSMB10 were changed from Proteasome-associated autoinflammatory syndrome 5, MIM# 619175 to Proteasome-associated autoinflammatory syndrome 5, MIM# 619175; Severe combined immunodeficiency, MONDO:0015974, PSMB10-related",
"entity_name": "PSMB10",
"entity_type": "gene"
},
{
"created": "2024-04-02T18:25:11.735533+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PSMB10 were set to 31783057; 37600812",
"entity_name": "PSMB10",
"entity_type": "gene"
},
{
"created": "2024-04-02T18:24:53.776102+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PSMB10 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PSMB10",
"entity_type": "gene"
},
{
"created": "2024-04-02T18:24:35.231991+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PSMB10: Added comment: PMID 38503300: Six individuals with three de novo missense variants. Individuals presented with T-B-NK± severe combined immunodeficiency (SCID) and clinical features suggestive of Omenn syndrome, including diarrhea, alopecia, and desquamating erythematous rash.; Changed publications: 31783057, 37600812, 38503300; Changed phenotypes: Proteasome-associated autoinflammatory syndrome 5, MIM# 619175, Severe combined immunodeficiency, MONDO:0015974, PSMB10-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PSMB10",
"entity_type": "gene"
},
{
"created": "2024-04-02T17:35:48.474917+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GIF was added\ngene: GIF was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature\nnew gene name tags were added to gene: GIF.\nMode of inheritance for gene: GIF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GIF were set to 27604308; 14695536; 14576042\nPhenotypes for gene: GIF were set to Intrinsic factor deficiency MIM#261000; Disorders of cobalamin absorption, transport and metabolism\nReview for gene: GIF was set to GREEN\ngene: GIF was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "GIF",
"entity_type": "gene"
},
{
"created": "2024-04-02T17:31:48.311517+11:00",
"panel_name": "Inherited vitamin B12 or cobalamin deficiency",
"panel_id": 4257,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added Panel Inherited vitamin B12 or cobalamin deficiency\nSet list of related panels to Abnormality of vitamin B12 metabolism; HP:0004341\nSet panel types to: Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-04-02T09:33:13.065019+11:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:IFNL3 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-04-01T18:46:33.483258+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1626",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CST3 as Green List (high evidence)",
"entity_name": "CST3",
"entity_type": "gene"
},
{
"created": "2024-04-01T18:46:33.470312+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1626",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cst3 has been classified as Green List (High Evidence).",
"entity_name": "CST3",
"entity_type": "gene"
},
{
"created": "2024-04-01T18:46:15.646506+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1625",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: CST3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38489591; Phenotypes: leukodystrophy MONDO:0019046, CST3-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CST3",
"entity_type": "gene"
},
{
"created": "2024-04-01T18:41:07.551565+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.57",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CST3 as ready",
"entity_name": "CST3",
"entity_type": "gene"
},
{
"created": "2024-04-01T18:41:07.543133+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.57",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cst3 has been classified as Green List (High Evidence).",
"entity_name": "CST3",
"entity_type": "gene"
},
{
"created": "2024-04-01T18:39:48.418205+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.57",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CST3 as Green List (high evidence)",
"entity_name": "CST3",
"entity_type": "gene"
},
{
"created": "2024-04-01T18:39:48.403878+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.57",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cst3 has been classified as Green List (High Evidence).",
"entity_name": "CST3",
"entity_type": "gene"
},
{
"created": "2024-04-01T18:38:58.590544+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.56",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CST3 was added\ngene: CST3 was added to Alternating Hemiplegia and Hemiplegic Migraine. Sources: Literature\nMode of inheritance for gene: CST3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CST3 were set to 38489591\nPhenotypes for gene: CST3 were set to leukodystrophy MONDO:0019046, CST3-related\nMode of pathogenicity for gene: CST3 was set to Other\nReview for gene: CST3 was set to GREEN\nAdded comment: 16 patients from 8 leukodystrophy families carrying one of four different stop-gain or frameshift dominant variants in the C-terminal (in the NMD-exclusion zone) of the CST3 gene. Suggested mechanism of disease by rendering the protein more prone to aggregation. The clinical phenotype consists of recurrent episodes of hemiplegic migraine associated with transient unilateral focal deficits and slowly progressing motor symptoms and cognitive decline in mid-old adult ages. Clinical & radiological features differ from Cerebral Amyloid Angiopathy. \nSources: Literature",
"entity_name": "CST3",
"entity_type": "gene"
},
{
"created": "2024-04-01T18:32:54.380376+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: CST3 were changed from Cerebral amyloid angiopathy MIM#105150 to Cerebral amyloid angiopathy MIM#105150; leukodystrophy MONDO:0019046",
"entity_name": "CST3",
"entity_type": "gene"
},
{
"created": "2024-04-01T18:31:42.899834+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: CST3 were set to 22435454; 8866434; 2602413; 8108423",
"entity_name": "CST3",
"entity_type": "gene"
},
{
"created": "2024-04-01T18:30:22.840029+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CST3 as Green List (high evidence)",
"entity_name": "CST3",
"entity_type": "gene"
},
{
"created": "2024-04-01T18:30:22.834772+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Cognitive decline is a feature of CST3-leukodystrophy",
"entity_name": "CST3",
"entity_type": "gene"
},
{
"created": "2024-04-01T18:30:22.800195+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cst3 has been classified as Green List (High Evidence).",
"entity_name": "CST3",
"entity_type": "gene"
},
{
"created": "2024-04-01T18:28:32.304831+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: CST3: Added comment: New gene-disease association: 16 patients from 8 leukodystrophy families carrying one of four different stop-gain or frameshift dominant variants in the C-terminal (in the NMD-exclusion zone) of the CST3 gene. Suggested mechanism of disease by rendering the protein more prone to aggregation. The clinical phenotype consists of recurrent episodes of hemiplegic migraine associated with transient unilateral focal deficits and slowly progressing motor symptoms and cognitive decline in mid-old adult ages. Clinical & radiological features differ from Cerebral Amyloid Angiopathy.; Changed publications: 22435454, 8866434, 2602413, 8108423, 38489591; Changed phenotypes: Cerebral amyloid angiopathy MIM#105150, leukodystrophy MONDO:0019046",
"entity_name": "CST3",
"entity_type": "gene"
},
{
"created": "2024-04-01T18:20:52.872289+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC32A1 were changed from Generalized epilepsy with febrile seizures plus, type 12, MIM# 620755 to Generalized epilepsy with febrile seizures plus, type 12, MIM# 620755; Developmental and epileptic encephalopathy 114, MIM# 620774",
"entity_name": "SLC32A1",
"entity_type": "gene"
},
{
"created": "2024-04-01T18:20:19.131541+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC32A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 114, MIM# 620774; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC32A1",
"entity_type": "gene"
},
{
"created": "2024-04-01T18:20:03.253158+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC32A1 were changed from Generalized epilepsy with febrile seizures plus, type 12, MIM# 620755 to Generalized epilepsy with febrile seizures plus, type 12, MIM# 620755; Developmental and epileptic encephalopathy 114, MIM# 620774",
"entity_name": "SLC32A1",
"entity_type": "gene"
},
{
"created": "2024-04-01T18:19:28.885893+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC32A1: Changed phenotypes: Generalized epilepsy with febrile seizures plus, type 12, MIM# 620755, Developmental and epileptic encephalopathy 114, MIM# 620774",
"entity_name": "SLC32A1",
"entity_type": "gene"
},
{
"created": "2024-04-01T18:19:08.079607+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC32A1 were changed from Generalized epilepsy with febrile seizures plus, type 12, MIM# 620755 to Generalized epilepsy with febrile seizures plus, type 12, MIM# 620755; Developmental and epileptic encephalopathy 114, MIM# 620774",
"entity_name": "SLC32A1",
"entity_type": "gene"
},
{
"created": "2024-04-01T18:18:41.708982+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC32A1: Changed phenotypes: Generalized epilepsy with febrile seizures plus, type 12, MIM# 620755, Developmental and epileptic encephalopathy 114, MIM# 620774",
"entity_name": "SLC32A1",
"entity_type": "gene"
},
{
"created": "2024-04-01T18:17:23.125936+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRELD1 were changed from Neurodevelopmental disorder (MONDO:0700092), CRELD1-related to Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2024-04-01T18:16:52.517902+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRELD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2024-04-01T18:16:33.513215+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRELD1 were changed from Developmental and epileptic encephalopathy, MONDO:0100062, CRELD1-related to Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2024-04-01T18:15:58.432132+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CRELD1: Changed phenotypes: Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2024-04-01T18:15:23.105483+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRELD1 were changed from Developmental and epileptic encephalopathy, MONDO:0100062, CRELD1-related; Atrioventricular septal defect, partial, with heterotaxy syndrome, MIM# 606217 to Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771; Atrioventricular septal defect, partial, with heterotaxy syndrome, MIM# 606217",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2024-04-01T18:14:48.973111+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CRELD1: Changed phenotypes: Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771, Atrioventricular septal defect, partial, with heterotaxy syndrome, MIM# 606217",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2024-04-01T16:52:13.132559+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: APP as ready",
"entity_name": "APP",
"entity_type": "gene"
},
{
"created": "2024-04-01T16:52:13.122469+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: app has been classified as Green List (High Evidence).",
"entity_name": "APP",
"entity_type": "gene"
},
{
"created": "2024-04-01T16:51:54.830306+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: APP was changed from to Other",
"entity_name": "APP",
"entity_type": "gene"
},
{
"created": "2024-04-01T16:51:07.131778+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: APP were set to ",
"entity_name": "APP",
"entity_type": "gene"
},
{
"created": "2024-04-01T16:38:19.569460+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: APP were changed from to Alzheimer disease MONDO:0007088",
"entity_name": "APP",
"entity_type": "gene"
},
{
"created": "2024-04-01T16:37:31.401013+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: APP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "APP",
"entity_type": "gene"
},
{
"created": "2024-04-01T12:51:54.453714+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EHHADH as ready",
"entity_name": "EHHADH",
"entity_type": "gene"
},
{
"created": "2024-04-01T12:51:54.437042+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ehhadh has been classified as Green List (High Evidence).",
"entity_name": "EHHADH",
"entity_type": "gene"
},
{
"created": "2024-04-01T12:51:46.930670+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: EHHADH were set to 24401050",
"entity_name": "EHHADH",
"entity_type": "gene"
},
{
"created": "2024-04-01T12:51:31.138693+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EHHADH as Green List (high evidence)",
"entity_name": "EHHADH",
"entity_type": "gene"
},
{
"created": "2024-04-01T12:51:31.125612+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ehhadh has been classified as Green List (High Evidence).",
"entity_name": "EHHADH",
"entity_type": "gene"
},
{
"created": "2024-04-01T12:51:20.613036+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: EHHADH: Rating: GREEN; Mode of pathogenicity: None; Publications: 24401050, 35738466, 38310177; Phenotypes: Fanconi renotubular syndrome 3 MONDO:0014275; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EHHADH",
"entity_type": "gene"
},
{
"created": "2024-04-01T12:50:35.282166+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1623",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: EHHADH were set to 24401050",
"entity_name": "EHHADH",
"entity_type": "gene"
},
{
"created": "2024-04-01T12:49:26.173899+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1622",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EHHADH as Green List (high evidence)",
"entity_name": "EHHADH",
"entity_type": "gene"
},
{
"created": "2024-04-01T12:49:26.157328+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1622",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ehhadh has been classified as Green List (High Evidence).",
"entity_name": "EHHADH",
"entity_type": "gene"
},
{
"created": "2024-04-01T12:48:32.218620+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1621",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: EHHADH: Rating: GREEN; Mode of pathogenicity: None; Publications: 35738466, 38310177, 24401050; Phenotypes: Fanconi renotubular syndrome 3 MONDO:0014275; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EHHADH",
"entity_type": "gene"
},
{
"created": "2024-03-28T19:49:10.237307+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1621",
"user_name": "Katie Ayers",
"item_type": "entity",
"text": "reviewed gene: RXFP2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 37208861, 38430325; Phenotypes: Infertility, cryptorchidism, non-obstructive azoospermia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RXFP2",
"entity_type": "gene"
},
{
"created": "2024-03-28T19:46:23.727804+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.293",
"user_name": "Katie Ayers",
"item_type": "entity",
"text": "edited their review of gene: RXFP2: Added comment: One individual with bilateral cryptorchidism and infertility had homozygous c.1406delT in RXFP2 (NM_130806.5), leading to a frameshift p.(Phe469Serfs*8). From consanguinous family.\r\n\r\nTwo affected brothers with homozygous missense variant c.1015A>G in RXFP2 (NM_130806.5) resulting in an amino acid substitution p.(Asn339Asp) with bilateral cryptorchidism.; Changed publications: 37208861; Changed phenotypes: Infertility, cryptorchidism, non-obstructive azoospermia",
"entity_name": "RXFP2",
"entity_type": "gene"
},
{
"created": "2024-03-28T19:41:17.761555+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.293",
"user_name": "Katie Ayers",
"item_type": "entity",
"text": "edited their review of gene: RXFP2: Added comment: Homozygous non-canonical splicing variant by whole-exome sequencing and Sanger sequencing . NM_130806: c.1376-12A > G; Changed rating: GREEN; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Changed publications: 38430325; Changed phenotypes: cryptorchidism and non-obstructive azoospermia; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RXFP2",
"entity_type": "gene"
},
{
"created": "2024-03-28T19:39:33.265068+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.293",
"user_name": "Katie Ayers",
"item_type": "entity",
"text": "commented on gene: RXFP2",
"entity_name": "RXFP2",
"entity_type": "gene"
},
{
"created": "2024-03-27T18:39:03.299613+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFAF5 as ready",
"entity_name": "NDUFAF5",
"entity_type": "gene"
},
{
"created": "2024-03-27T18:39:03.273168+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufaf5 has been classified as Green List (High Evidence).",
"entity_name": "NDUFAF5",
"entity_type": "gene"
},
{
"created": "2024-03-27T18:38:56.796569+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFAF5 were changed from to Mitochondrial complex I deficiency, nuclear type 3 MIM#618224",
"entity_name": "NDUFAF5",
"entity_type": "gene"
},
{
"created": "2024-03-27T18:38:24.092910+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFAF5 were set to ",
"entity_name": "NDUFAF5",
"entity_type": "gene"
},
{
"created": "2024-03-27T18:37:43.886203+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFAF5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFAF5",
"entity_type": "gene"
},
{
"created": "2024-03-27T18:37:03.254564+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDUFAF5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3 MIM#618224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFAF5",
"entity_type": "gene"
},
{
"created": "2024-03-27T18:36:09.772123+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFA1 as ready",
"entity_name": "NDUFA1",
"entity_type": "gene"
},
{
"created": "2024-03-27T18:36:09.762812+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa1 has been classified as Green List (High Evidence).",
"entity_name": "NDUFA1",
"entity_type": "gene"
},
{
"created": "2024-03-27T18:35:27.735642+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFA1 were changed from to Mitochondrial complex I deficiency, nuclear type 12 MIM#301020",
"entity_name": "NDUFA1",
"entity_type": "gene"
},
{
"created": "2024-03-27T18:34:54.753337+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFA1 were set to ",
"entity_name": "NDUFA1",
"entity_type": "gene"
},
{
"created": "2024-03-27T18:34:12.113992+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NDUFA1",
"entity_type": "gene"
},
{
"created": "2024-03-27T18:33:36.714870+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDUFA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 12 MIM#301020; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NDUFA1",
"entity_type": "gene"
},
{
"created": "2024-03-27T18:32:10.099291+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDE1 as ready",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2024-03-27T18:32:10.085619+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nde1 has been classified as Green List (High Evidence).",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2024-03-27T18:31:57.527167+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDE1 were changed from to Microhydranencephaly 605013; Lissencephaly 4 (with microcephaly) 614019",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2024-03-27T18:31:25.692034+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDE1 were set to ",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2024-03-27T18:30:17.625587+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2024-03-27T18:29:11.307390+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAGA as ready",
"entity_name": "NAGA",
"entity_type": "gene"
},
{
"created": "2024-03-27T18:29:11.298889+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naga has been classified as Amber List (Moderate Evidence).",
"entity_name": "NAGA",
"entity_type": "gene"
}
]
}