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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=416",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=414",
"results": [
{
"created": "2024-08-01T14:21:18.150606+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6065",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NDC1 as Green List (high evidence)",
"entity_name": "NDC1",
"entity_type": "gene"
},
{
"created": "2024-08-01T14:21:18.133103+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6065",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ndc1 has been classified as Green List (High Evidence).",
"entity_name": "NDC1",
"entity_type": "gene"
},
{
"created": "2024-08-01T14:17:26.083233+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6064",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NDC1 was added\ngene: NDC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: NDC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDC1 were set to 39003500; 19782045\nPhenotypes for gene: NDC1 were set to triple-A syndrome MONDO:0009279\nReview for gene: NDC1 was set to GREEN\nAdded comment: 7 cases from 4 consanguineous families (3 different variants: 1 intronic variants that causes in-frame RNA splice impact, 2 missense) with a Triple-A-like syndrome (including ID and neuropathy). Supporting cellular localisation studies were conducted in patient cell lines with the splice variant. NDC1 is required to anchor ALADIN (encoded by AAAS, the gene that causes Triple-A syndrome) in the nuclear pore complex. \nSources: Literature",
"entity_name": "NDC1",
"entity_type": "gene"
},
{
"created": "2024-08-01T14:00:04.894449+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1896",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: RBBP5 as Green List (high evidence)",
"entity_name": "RBBP5",
"entity_type": "gene"
},
{
"created": "2024-08-01T14:00:04.871571+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1896",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: rbbp5 has been classified as Green List (High Evidence).",
"entity_name": "RBBP5",
"entity_type": "gene"
},
{
"created": "2024-08-01T13:59:45.405871+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1895",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "commented on gene: RBBP5: 5x Indivis (4x de novo) = 3x PTCs + 2x missense\r\n\r\n4/5 dev delay/ID\r\n2/5 short stature (<=-3 SD) + 2/5 <= -2 SD\r\n1/5 microcephaly (< -3 SD) + 3/5 <= -2 SD\r\n2/5 SNHL\r\n2/5 seizures\r\n3/5 hypotonia",
"entity_name": "RBBP5",
"entity_type": "gene"
},
{
"created": "2024-08-01T13:54:48.386355+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1895",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "RBBP5",
"entity_type": "gene"
},
{
"created": "2024-08-01T13:54:25.198090+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1895",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: RBBP5 was added\ngene: RBBP5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RBBP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RBBP5 were set to 39036895\nPhenotypes for gene: RBBP5 were set to neurodevelopmental disorder MONDO:0700092, RBBP5-related\nReview for gene: RBBP5 was set to GREEN\ngene: RBBP5 was marked as current diagnostic\nAdded comment: 5 individuals with de novo variants - 3x PTCs + 2x missense\r\n\r\n2/5 short stature (> 3SD; 2x >=-2SD)\r\n1/5 microcephaly (> 3SD; 3x >=-2SD)\r\n4/5 dev delay/ID\r\n2/5 SNHL\r\n2/5 Seizures\r\n3/5 hypotonia \nSources: Literature",
"entity_name": "RBBP5",
"entity_type": "gene"
},
{
"created": "2024-08-01T13:49:59.393228+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.167",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of STR: OPDM_ABCD3_GCC: Changed publications: 39068203",
"entity_name": "OPDM_ABCD3_GCC",
"entity_type": "str"
},
{
"created": "2024-08-01T13:00:06.923576+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.65",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DPAGT1 as ready",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2024-08-01T13:00:06.895036+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.65",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dpagt1 has been classified as Green List (High Evidence).",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:59:31.611868+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.65",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DPAGT1 as Green List (high evidence)",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:59:31.596907+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.65",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dpagt1 has been classified as Green List (High Evidence).",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:57:26.105725+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.64",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DPAGT1 was added\ngene: DPAGT1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DPAGT1 were set to 38982518; 38443029; 38124360; 29356258; 24759841\nPhenotypes for gene: DPAGT1 were set to tubular aggregate myopathy MONDO:0008051\nReview for gene: DPAGT1 was set to GREEN\ngene: DPAGT1 was marked as current diagnostic\nAdded comment: 3 cases reported with congenital myopathy, and at least 2 case with CMS mimicking a congenital myopathy \nSources: Literature",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:32:30.069009+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.63",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ALG14 as ready",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:32:30.049834+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.63",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: alg14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:31:48.181793+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.63",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ALG14 as Amber List (moderate evidence)",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:31:48.162133+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.63",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: alg14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:27:53.936339+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.76",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: CLCNKB were set to ",
"entity_name": "CLCNKB",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:27:03.836433+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.62",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ALG14 was added\ngene: ALG14 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALG14 were set to 38982518; 28733338\nPhenotypes for gene: ALG14 were set to congenital myopathy MONDO:0019952\nReview for gene: ALG14 was set to AMBER\ngene: ALG14 was marked as current diagnostic\nAdded comment: 2 cases have been reported with congenital myopathy with biallelic variants. \nSources: Literature",
"entity_name": "ALG14",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:26:58.127079+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.75",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: CLCN4 as ready",
"entity_name": "CLCN4",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:26:58.108586+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.75",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: clcn4 has been classified as Green List (High Evidence).",
"entity_name": "CLCN4",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:26:53.707743+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.75",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: CLCN4 were set to 27550844",
"entity_name": "CLCN4",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:24:25.959645+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.74",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: CIITA as ready",
"entity_name": "CIITA",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:24:25.944785+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.74",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: ciita has been classified as Green List (High Evidence).",
"entity_name": "CIITA",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:24:20.300441+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.74",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: CIITA were set to ",
"entity_name": "CIITA",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:23:17.336359+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.73",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: CEP290 as ready",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:23:17.314469+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.73",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: cep290 has been classified as Green List (High Evidence).",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:23:05.984832+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.73",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: CEP290 were set to ",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:22:02.614631+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.72",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: CDT1 as ready",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:22:02.591099+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.72",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: cdt1 has been classified as Green List (High Evidence).",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:21:58.651667+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.72",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: CDT1 were set to ",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:21:24.500496+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.61",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: UNC45B as ready",
"entity_name": "UNC45B",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:21:24.481073+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.61",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: unc45b has been classified as Green List (High Evidence).",
"entity_name": "UNC45B",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:20:34.754908+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.61",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: UNC45B as Green List (high evidence)",
"entity_name": "UNC45B",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:20:34.740705+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.61",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: unc45b has been classified as Green List (High Evidence).",
"entity_name": "UNC45B",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:19:12.978105+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.71",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: CDK10 as ready",
"entity_name": "CDK10",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:19:12.957482+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.71",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: cdk10 has been classified as Green List (High Evidence).",
"entity_name": "CDK10",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:19:09.322147+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.71",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: CDK10 were set to ",
"entity_name": "CDK10",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:17:57.767277+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.59",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: UNC45B was added\ngene: UNC45B was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: UNC45B was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC45B",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:17:26.542444+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.70",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: CD55 as ready",
"entity_name": "CD55",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:17:26.524427+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.70",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: cd55 has been classified as Green List (High Evidence).",
"entity_name": "CD55",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:16:58.376536+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.70",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: CD55 were set to ",
"entity_name": "CD55",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:16:44.407539+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.58",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CASQ1 as ready",
"entity_name": "CASQ1",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:16:44.393666+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.58",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: casq1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CASQ1",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:16:26.105555+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.58",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CASQ1 as Amber List (moderate evidence)",
"entity_name": "CASQ1",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:16:26.091544+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.58",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: casq1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CASQ1",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:15:58.882648+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.69",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: CARD11 as ready",
"entity_name": "CARD11",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:15:58.876298+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.69",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Dominant negative suggested as possible mechanism for AD disease PMID:28826773",
"entity_name": "CARD11",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:15:58.828993+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.69",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: card11 has been classified as Green List (High Evidence).",
"entity_name": "CARD11",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:15:35.196910+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.69",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: CARD11 were set to ",
"entity_name": "CARD11",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:14:19.870127+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.57",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CASQ1 was added\ngene: CASQ1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: CASQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CASQ1 were set to 38982518\nPhenotypes for gene: CASQ1 were set to tubular aggregate myopathy MONDO:0008051\nMode of pathogenicity for gene: CASQ1 was set to Other\nReview for gene: CASQ1 was set to AMBER\ngene: CASQ1 was marked as current diagnostic\nAdded comment: 2 cases have been reported with congenital myopathy. Gain of function is expected to be the mechanism of disease. \nSources: Literature",
"entity_name": "CASQ1",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:08:42.686193+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.56",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ORAI1 as ready",
"entity_name": "ORAI1",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:08:42.671755+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.56",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: orai1 has been classified as Green List (High Evidence).",
"entity_name": "ORAI1",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:08:20.293981+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.56",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ORAI1 as Green List (high evidence)",
"entity_name": "ORAI1",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:08:20.276777+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.56",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: orai1 has been classified as Green List (High Evidence).",
"entity_name": "ORAI1",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:07:24.692933+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.55",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ORAI1 was added\ngene: ORAI1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: ORAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ORAI1 were set to 31448844; 38982518\nPhenotypes for gene: ORAI1 were set to tubular aggregate myopathy MONDO:0008051\nMode of pathogenicity for gene: ORAI1 was set to Other\nReview for gene: ORAI1 was set to GREEN\ngene: ORAI1 was marked as current diagnostic\nAdded comment: >4 cases with congenital myopathy. Gain of function is the mechanism of disease. \nSources: Literature",
"entity_name": "ORAI1",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:06:26.817504+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.68",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: C19orf12 as ready",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:06:26.802381+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.68",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: c19orf12 has been classified as Green List (High Evidence).",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:05:19.980301+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.68",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: C19orf12 were set to ",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:03:21.800564+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.67",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: ATM as ready",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:03:21.792419+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.67",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: NB for reporting carrier mother may need additional breast cancer surveillance",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:03:21.738501+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.67",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: atm has been classified as Green List (High Evidence).",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:03:12.369101+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: STIM1 as ready",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:03:12.353998+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: stim1 has been classified as Green List (High Evidence).",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:02:48.604400+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.67",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: ATM were set to 30137827",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:02:34.601549+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: STIM1 as Green List (high evidence)",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:02:34.555443+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: stim1 has been classified as Green List (High Evidence).",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:01:16.495399+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: STIM1 was added\ngene: STIM1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: STIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: STIM1 were set to 38982518; 31448844\nPhenotypes for gene: STIM1 were set to tubular aggregate myopathy MONDO:0008051\nMode of pathogenicity for gene: STIM1 was set to Other\nReview for gene: STIM1 was set to GREEN\ngene: STIM1 was marked as current diagnostic\nAdded comment: >4 cases with congenital myopathy. Gain of function is the mechanism of disease. \nSources: Literature",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2024-08-01T12:00:09.406490+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.66",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: ATM were set to ",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2024-08-01T11:57:07.287944+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: OPA1 as ready",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2024-08-01T11:57:07.267199+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: opa1 has been classified as Red List (Low Evidence).",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2024-08-01T11:54:20.862251+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: OPA1 was added\ngene: OPA1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: OPA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OPA1 were set to 38982518\nPhenotypes for gene: OPA1 were set to congenital myopathy MONDO:0019952\nReview for gene: OPA1 was set to RED\nAdded comment: A single case with centronuclear myopathy \nSources: Literature",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2024-08-01T11:51:16.273754+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: IDUA as ready",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2024-08-01T11:51:16.259225+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: idua has been classified as Red List (Low Evidence).",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2024-08-01T11:50:50.177625+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IDUA was added\ngene: IDUA was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IDUA were set to 38982518\nPhenotypes for gene: IDUA were set to congenital myopathy MONDO:0019952\nReview for gene: IDUA was set to RED\ngene: IDUA was marked as current diagnostic\nAdded comment: A single case reported with core myopathy. \nSources: Literature",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2024-08-01T11:47:57.879171+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FOXP3 as ready",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2024-08-01T11:47:57.865931+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: foxp3 has been classified as Red List (Low Evidence).",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2024-08-01T11:47:26.580871+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FOXP3 was added\ngene: FOXP3 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: FOXP3 were set to 38982518\nPhenotypes for gene: FOXP3 were set to congenital myopathy MONDO:0019952\nReview for gene: FOXP3 was set to RED\ngene: FOXP3 was marked as current diagnostic\nAdded comment: Single case reported with centronuclear myopathy. \nSources: Literature",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2024-08-01T11:39:17.724085+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EXOSC3 was added\ngene: EXOSC3 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXOSC3 were set to 30025162; 38982518\nPhenotypes for gene: EXOSC3 were set to congenital myopathy MONDO:0019952\nReview for gene: EXOSC3 was set to RED\nAdded comment: A single case reported with congenital myopathy as a feature of the condition (also including PCH). \nSources: Literature",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2024-08-01T11:39:04.254498+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CHRNA1 as ready",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2024-08-01T11:39:04.240884+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: chrna1 has been classified as Green List (High Evidence).",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2024-08-01T11:34:06.415906+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CHRNA1 as Green List (high evidence)",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2024-08-01T11:34:06.385478+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: chrna1 has been classified as Green List (High Evidence).",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2024-08-01T11:34:05.660255+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CHRND as ready",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2024-08-01T11:34:05.642754+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: chrnd has been classified as Red List (Low Evidence).",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2024-08-01T11:33:46.894389+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CHRND was added\ngene: CHRND was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: CHRND was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHRND were set to 38982518\nPhenotypes for gene: CHRND were set to congenital myopathy MONDO:0019952\nReview for gene: CHRND was set to RED\ngene: CHRND was marked as current diagnostic\nAdded comment: Single case with congenital centronuclear myopathy reported \nSources: Literature",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2024-08-01T11:30:20.148830+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CHRNA1 was added\ngene: CHRNA1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature\nMode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHRNA1 were set to 36634413\nPhenotypes for gene: CHRNA1 were set to myasthenic syndrome, congenital, 1B, fast-channel MONDO:0012156\nReview for gene: CHRNA1 was set to GREEN\ngene: CHRNA1 was marked as current diagnostic\nAdded comment: 13 patients from nine unrelated families with acetylcholine receptor deficiency harbouring the CHRNA1 variant NM_001039523.3:c.257G>A (p.Arg86His) in homozygosity or compound heterozygosity with a predominant pattern of distal upper limb weakness in adulthood, similar to distal myopathy. \nSources: Literature",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2024-08-01T11:25:54.225130+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CHRNA1 as Amber List (moderate evidence)",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2024-08-01T11:25:54.208706+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: chrna1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2024-08-01T11:25:28.284619+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CHRNA1 as Amber List (moderate evidence)",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2024-08-01T11:25:28.233565+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: chrna1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2024-08-01T11:24:58.735424+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CHRNA1 as ready",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2024-08-01T11:24:58.720964+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: chrna1 has been classified as Red List (Low Evidence).",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2024-08-01T11:24:05.113142+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CHRNA1 was added\ngene: CHRNA1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: CHRNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: CHRNA1 were set to 36634413; 38982518\nPhenotypes for gene: CHRNA1 were set to Congenital myopathy MONDO:0019952\nReview for gene: CHRNA1 was set to AMBER\nAdded comment: Congenital myopathy reported in at least 2 cases. One biallelic (loss of function) and one monoallelic (gain of function). \nSources: Literature",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2024-08-01T10:58:36.340438+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TTN as ready",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2024-08-01T10:58:36.325715+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ttn has been classified as Green List (High Evidence).",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2024-08-01T10:56:08.086543+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TTN as Green List (high evidence)",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2024-08-01T10:56:08.054202+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ttn has been classified as Green List (High Evidence).",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2024-08-01T10:55:00.880327+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TTN was added\ngene: TTN was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\ndigenic tags were added to gene: TTN.\nMode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTN were set to 38429495; 38982518\nPhenotypes for gene: TTN were set to TTN-related myopathy MONDO:0100175\nReview for gene: TTN was set to GREEN\ngene: TTN was marked as current diagnostic\nAdded comment: >4 cases reported with biallelic variants and congenital myopathy (e.g. centronuclear myopathy, cytoplasmic bodies). Digenic heterozygous TTN/SRPK3 variants are also reported with core myopathy. \nSources: Literature",
"entity_name": "TTN",
"entity_type": "gene"
}
]
}