HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220437,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1291",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1289",
"results": [
{
"created": "2021-06-20T11:35:44.424444+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: bccd has been classified as Green List (High Evidence).",
"entity_name": "BCCD",
"entity_type": "str"
},
{
"created": "2021-06-20T11:35:34.157604+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: NM_001024630.4(RUNX2):c.231_233[x]\r\nExpected mechansim of disease is polyAlanine tract associated with dominant-negative effect or leading to a loss of function of the protein\r\nNormal repeat number: 17\r\nPathogenic repeat number: 27 \nSources: Expert list; to: NM_001024630.4(RUNX2):c.231_233[x]\r\nExpected mechanism of disease is polyAlanine tract associated with dominant-negative effect or leading to a loss of function of the protein\r\nNormal repeat number: 17\r\nPathogenic repeat number: 27 \r\nSources: Expert list",
"entity_name": "BCCD",
"entity_type": "str"
},
{
"created": "2021-06-20T11:35:21.824231+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: BCCD was added\nSTR: BCCD was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: BCCD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: BCCD were set to 9182765; 33811808\nPhenotypes for STR: BCCD were set to Cleidocranial dysplasia MIM#119600\nReview for STR: BCCD was set to GREEN\nSTR: BCCD was marked as clinically relevant\nAdded comment: NM_001024630.4(RUNX2):c.231_233[x]\r\nExpected mechansim of disease is polyAlanine tract associated with dominant-negative effect or leading to a loss of function of the protein\r\nNormal repeat number: 17\r\nPathogenic repeat number: 27 \nSources: Expert list",
"entity_name": "BCCD",
"entity_type": "str"
},
{
"created": "2021-06-20T11:25:37.923231+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: SCA6 as ready",
"entity_name": "SCA6",
"entity_type": "str"
},
{
"created": "2021-06-20T11:25:37.911719+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca6 has been classified as Green List (High Evidence).",
"entity_name": "SCA6",
"entity_type": "str"
},
{
"created": "2021-06-20T11:25:35.197657+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: SCA6 as Green List (high evidence)",
"entity_name": "SCA6",
"entity_type": "str"
},
{
"created": "2021-06-20T11:25:35.187515+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca6 has been classified as Green List (High Evidence).",
"entity_name": "SCA6",
"entity_type": "str"
},
{
"created": "2021-06-20T11:25:27.641467+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: SCA6 was added\nSTR: SCA6 was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: SCA6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SCA6 were set to 8988170; 20301319; 29325606\nPhenotypes for STR: SCA6 were set to Spinocerebellar ataxia 6 MIM#183086; Episodic ataxia, type 2 MIM#108500\nReview for STR: SCA6 was set to GREEN\nSTR: SCA6 was marked as clinically relevant\nAdded comment: NM_023035.2:c.6929_6931CAG[X]\r\nPolyQ expansion alters gene binding, impairs transcription factor function, and is toxic to cells expressing the α1ACT – effects consistent with a loss of function\r\nNormal: ≤18 repeats\r\nQuestionable significance: 19 CAG repeats\r\nFull penetrance: ≥20 repeats \nSources: Expert list",
"entity_name": "SCA6",
"entity_type": "str"
},
{
"created": "2021-06-20T11:20:05.184363+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: SPD1 as ready",
"entity_name": "SPD1",
"entity_type": "str"
},
{
"created": "2021-06-20T11:20:05.174368+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: spd1 has been classified as Green List (High Evidence).",
"entity_name": "SPD1",
"entity_type": "str"
},
{
"created": "2021-06-20T11:20:01.642764+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: SPD1 as Green List (high evidence)",
"entity_name": "SPD1",
"entity_type": "str"
},
{
"created": "2021-06-20T11:20:01.631913+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: spd1 has been classified as Green List (High Evidence).",
"entity_name": "SPD1",
"entity_type": "str"
},
{
"created": "2021-06-20T11:19:51.565403+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: SPD1 was added\nSTR: SPD1 was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: SPD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SPD1 were set to 8817328; 33811808\nPhenotypes for STR: SPD1 were set to Synpolydactyly 1 MIM#186000\nReview for STR: SPD1 was set to GREEN\nSTR: SPD1 was marked as clinically relevant\nAdded comment: NM_000523.4(HOXD13):c.212_213GCG[X]\r\nMechanism of disease is polyAlanine tract associated with dominant-negative effect\r\nNormal repeat number: 15\r\nPathogenic repeat number: 24 \nSources: Expert list",
"entity_name": "SPD1",
"entity_type": "str"
},
{
"created": "2021-06-20T10:33:32.283625+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.169",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: SCA7 as ready",
"entity_name": "SCA7",
"entity_type": "str"
},
{
"created": "2021-06-20T10:33:32.273923+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.169",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca7 has been classified as Green List (High Evidence).",
"entity_name": "SCA7",
"entity_type": "str"
},
{
"created": "2021-06-20T10:33:28.008812+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.169",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: SCA7 as Green List (high evidence)",
"entity_name": "SCA7",
"entity_type": "str"
},
{
"created": "2021-06-20T10:33:27.998997+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.169",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca7 has been classified as Green List (High Evidence).",
"entity_name": "SCA7",
"entity_type": "str"
},
{
"created": "2021-06-20T10:32:47.631281+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: SCA7 as ready",
"entity_name": "SCA7",
"entity_type": "str"
},
{
"created": "2021-06-20T10:32:47.622758+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca7 has been classified as Green List (High Evidence).",
"entity_name": "SCA7",
"entity_type": "str"
},
{
"created": "2021-06-20T10:32:43.989506+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: SCA7 as Green List (high evidence)",
"entity_name": "SCA7",
"entity_type": "str"
},
{
"created": "2021-06-20T10:32:43.979471+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca7 has been classified as Green List (High Evidence).",
"entity_name": "SCA7",
"entity_type": "str"
},
{
"created": "2021-06-20T10:32:36.777667+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.168",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: SCA7 was added\nSTR: SCA7 was added to Syndromic Retinopathy. Sources: Literature\nMode of inheritance for STR: SCA7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SCA7 were set to 8908515; 29325606; 20301433\nPhenotypes for STR: SCA7 were set to Spinocerebellar ataxia 7 MIM#164500\nReview for STR: SCA7 was set to GREEN\nSTR: SCA7 was marked as clinically relevant\nAdded comment: NM_000333.3:c.89_91AGC[X]\r\nGain of function mechanism of disease\r\nNormal: ≤27 repeats\r\nMutable normal: 28-33 repeats, meiotically unstable, but not associated with an abnormal phenotype.\r\nPathogenic reduced penetrance: 34-36 repeats, when manifestations occur, they are more likely to be later onset and milder than average\r\nPathogenic full penetrance: 37-460 repeats \nSources: Literature",
"entity_name": "SCA7",
"entity_type": "str"
},
{
"created": "2021-06-20T10:32:26.829958+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: SCA7 was added\nSTR: SCA7 was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: SCA7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SCA7 were set to 8908515; 29325606; 20301433\nPhenotypes for STR: SCA7 were set to Spinocerebellar ataxia 7 MIM#164500\nReview for STR: SCA7 was set to GREEN\nSTR: SCA7 was marked as clinically relevant\nAdded comment: NM_000333.3:c.89_91AGC[X]\r\nGain of function mechanism of disease\r\nNormal: ≤27 repeats\r\nMutable normal: 28-33 repeats, meiotically unstable, but not associated with an abnormal phenotype.\r\nPathogenic reduced penetrance: 34-36 repeats, when manifestations occur, they are more likely to be later onset and milder than average\r\nPathogenic full penetrance: 37-460 repeats \nSources: Expert list",
"entity_name": "SCA7",
"entity_type": "str"
},
{
"created": "2021-06-20T10:27:42.193982+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.167",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ATXN7 as No list",
"entity_name": "ATXN7",
"entity_type": "gene"
},
{
"created": "2021-06-20T10:27:42.189764+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.167",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Added to panel as an STR under SCA7",
"entity_name": "ATXN7",
"entity_type": "gene"
},
{
"created": "2021-06-20T10:27:42.168068+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.167",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atxn7 has been removed from the panel.",
"entity_name": "ATXN7",
"entity_type": "gene"
},
{
"created": "2021-06-20T10:22:10.106698+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: SCA2 as ready",
"entity_name": "SCA2",
"entity_type": "str"
},
{
"created": "2021-06-20T10:22:10.096922+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca2 has been classified as Green List (High Evidence).",
"entity_name": "SCA2",
"entity_type": "str"
},
{
"created": "2021-06-20T10:22:07.351977+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: SCA2 as Green List (high evidence)",
"entity_name": "SCA2",
"entity_type": "str"
},
{
"created": "2021-06-20T10:22:07.341419+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca2 has been classified as Green List (High Evidence).",
"entity_name": "SCA2",
"entity_type": "str"
},
{
"created": "2021-06-20T10:21:58.029548+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: SCA2 was added\nSTR: SCA2 was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: SCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SCA2 were set to 8896555; 29325606; 20301452\nPhenotypes for STR: SCA2 were set to Spinocerebellar ataxia 2 MIM#183090\nReview for STR: SCA2 was set to GREEN\nSTR: SCA2 was marked as clinically relevant\nAdded comment: NM_002973.3:c.496_498CAG[X]\r\nToxic protein aggregation is mechanism of disease\r\nBenign: ≤31 repeats (homozygous 31/31 repeats reported for recessive SCA2)\r\nUncertain: 32 repeats\r\nALS risk allele: 30-32 repeats\r\nReduced penetrance: 33-34 repeats, may not develop symptoms or only very late in life\r\nFull penetrance: ≥35 repeats\r\nInterruption of a CAG expanded allele by a CAA repeat does not mitigate the pathogenicity of the repeat size, but may enhance the meiotic stability of the repeat \nSources: Expert list",
"entity_name": "SCA2",
"entity_type": "str"
},
{
"created": "2021-06-20T10:16:56.483782+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: SCA3 as ready",
"entity_name": "SCA3",
"entity_type": "str"
},
{
"created": "2021-06-20T10:16:56.473280+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca3 has been classified as Green List (High Evidence).",
"entity_name": "SCA3",
"entity_type": "str"
},
{
"created": "2021-06-20T10:16:53.521153+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: SCA3 as Green List (high evidence)",
"entity_name": "SCA3",
"entity_type": "str"
},
{
"created": "2021-06-20T10:16:53.504927+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca3 has been classified as Green List (High Evidence).",
"entity_name": "SCA3",
"entity_type": "str"
},
{
"created": "2021-06-20T10:16:44.636749+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: SCA3 was added\nSTR: SCA3 was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: SCA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SCA3 were set to 7874163; 20301375; 29325606\nPhenotypes for STR: SCA3 were set to Machado-Joseph disease MIM#109150; Spinocerebellar ataxia type 3\nReview for STR: SCA3 was set to GREEN\nSTR: SCA3 was marked as clinically relevant\nAdded comment: NM_004993.5:c.886_888CAG[X]\r\nToxic aggregation and mislocalization in neurons is mechanism of disease\r\nNormal: ≤44 repeats, mostly <31 repeats\r\nIntermediate: 45-59 repeats, some intermediate alleles are not associated with classic clinical features of SCA3\r\nPathogenic (full penetrance): ≥60 repeats \nSources: Expert list",
"entity_name": "SCA3",
"entity_type": "str"
},
{
"created": "2021-06-20T10:12:57.570901+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: DRPLA as ready",
"entity_name": "DRPLA",
"entity_type": "str"
},
{
"created": "2021-06-20T10:12:57.560402+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: drpla has been classified as Green List (High Evidence).",
"entity_name": "DRPLA",
"entity_type": "str"
},
{
"created": "2021-06-20T10:12:54.160586+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: DRPLA as Green List (high evidence)",
"entity_name": "DRPLA",
"entity_type": "str"
},
{
"created": "2021-06-20T10:12:54.151372+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: drpla has been classified as Green List (High Evidence).",
"entity_name": "DRPLA",
"entity_type": "str"
},
{
"created": "2021-06-20T10:12:44.037230+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: DRPLA was added\nSTR: DRPLA was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: DRPLA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: DRPLA were set to 8136840; 8136826; 29325606; 20301664\nPhenotypes for STR: DRPLA were set to Dentatorubral-pallidoluysian atrophy MIM#125370\nReview for STR: DRPLA was set to GREEN\nSTR: DRPLA was marked as clinically relevant\nAdded comment: NM_001007026.1:c.1462_1464CAG[X] \r\nToxic gain of function mechanism of disease \r\nBenign: ≤35 repeats \r\nMutable normal: 20-35 repeats \r\nPathogenic: ≥48 repeats \r\nAge <20 years: ≥63 repeats - ataxia, myoclonus, seizures, progressive intellectual deterioration Age 21-40 years 61-69 repeats, >40 years 48-67 repeats: ataxia, choreoathetosis, dementia, psychiatric disturbance \nSources: Expert list",
"entity_name": "DRPLA",
"entity_type": "str"
},
{
"created": "2021-06-20T10:08:16.336652+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: SCA1 as ready",
"entity_name": "SCA1",
"entity_type": "str"
},
{
"created": "2021-06-20T10:08:16.326534+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca1 has been classified as Green List (High Evidence).",
"entity_name": "SCA1",
"entity_type": "str"
},
{
"created": "2021-06-20T10:08:12.253042+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: SCA1 as Green List (high evidence)",
"entity_name": "SCA1",
"entity_type": "str"
},
{
"created": "2021-06-20T10:08:12.242333+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sca1 has been classified as Green List (High Evidence).",
"entity_name": "SCA1",
"entity_type": "str"
},
{
"created": "2021-06-20T10:07:59.655023+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: SCA1 was added\nSTR: SCA1 was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: SCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SCA1 were set to 8358429; 29325606; 20301363\nPhenotypes for STR: SCA1 were set to Spinocerebellar ataxia 1 MIM#164400\nReview for STR: SCA1 was set to GREEN\nSTR: SCA1 was marked as clinically relevant\nAdded comment: NM_000332.3:c.589_591CAG[X]\r\nToxic protein aggregation is mechanism of disease\r\nNormal: ≤35 CAG repeats or 36-44 CAG repeats with CAT interruptions\r\nMutable normal (intermediate): 36-38 CAG repeats without CAT interruptions\r\nFull-penetrance: ≥39 CAG repeats without CAT interruptions or ≥46 uninterrupted CAG repeats with CAT interruptions and additional CAGs \nSources: Expert list",
"entity_name": "SCA1",
"entity_type": "str"
},
{
"created": "2021-06-20T10:04:25.282449+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.71",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: HD as Green List (high evidence)",
"entity_name": "HD",
"entity_type": "str"
},
{
"created": "2021-06-20T10:04:25.273293+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.71",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: hd has been classified as Green List (High Evidence).",
"entity_name": "HD",
"entity_type": "str"
},
{
"created": "2021-06-20T10:04:21.596602+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.70",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: HD as ready",
"entity_name": "HD",
"entity_type": "str"
},
{
"created": "2021-06-20T10:04:21.585744+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.70",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: hd has been classified as Red List (Low Evidence).",
"entity_name": "HD",
"entity_type": "str"
},
{
"created": "2021-06-20T10:03:54.887798+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.70",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: HD was added\nSTR: HD was added to Incidentalome. Sources: Expert list\nMode of inheritance for STR: HD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: HD were set to 8458085; 20301482; 29325606\nPhenotypes for STR: HD were set to Huntington disease MIM#143100\nReview for STR: HD was set to GREEN\nSTR: HD was marked as clinically relevant\nAdded comment: NM_002111.8:c.52_54CAG[X]\r\nPrimary mechanism of disease is gain of function\r\nNormal: ≤26 repeats\r\nIntermediate: 27-35 repeats, no risk for proband but expansion possible in the next generation\r\nPathogenic (reduced penetrance): 36-39 repeats, proband at risk for HD but may not develop symptoms\r\nPathogenic (full penetrance): ≥40 repeats, development of HD with increased certainty assuming a normal life span \nSources: Expert list",
"entity_name": "HD",
"entity_type": "str"
},
{
"created": "2021-06-20T10:03:53.189252+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: HD as ready",
"entity_name": "HD",
"entity_type": "str"
},
{
"created": "2021-06-20T10:03:53.179176+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: hd has been classified as Green List (High Evidence).",
"entity_name": "HD",
"entity_type": "str"
},
{
"created": "2021-06-20T10:03:46.512814+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: HD as Green List (high evidence)",
"entity_name": "HD",
"entity_type": "str"
},
{
"created": "2021-06-20T10:03:46.502845+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: hd has been classified as Green List (High Evidence).",
"entity_name": "HD",
"entity_type": "str"
},
{
"created": "2021-06-20T10:03:36.085779+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: HD was added\nSTR: HD was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: HD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: HD were set to 8458085; 20301482; 29325606\nPhenotypes for STR: HD were set to Huntington disease MIM#143100\nReview for STR: HD was set to GREEN\nSTR: HD was marked as clinically relevant\nAdded comment: NM_002111.8:c.52_54CAG[X]\r\nPrimary mechanism of disease is gain of function\r\nNormal: ≤26 repeats\r\nIntermediate: 27-35 repeats, no risk for proband but expansion possible in the next generation\r\nPathogenic (reduced penetrance): 36-39 repeats, proband at risk for HD but may not develop symptoms\r\nPathogenic (full penetrance): ≥40 repeats, development of HD with increased certainty assuming a normal life span \nSources: Expert list",
"entity_name": "HD",
"entity_type": "str"
},
{
"created": "2021-06-20T09:57:29.736483+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.69",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HTT as No list",
"entity_name": "HTT",
"entity_type": "gene"
},
{
"created": "2021-06-20T09:57:29.731873+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.69",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Included on the panel as an STR under HD",
"entity_name": "HTT",
"entity_type": "gene"
},
{
"created": "2021-06-20T09:57:29.693737+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.69",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: htt has been removed from the panel.",
"entity_name": "HTT",
"entity_type": "gene"
},
{
"created": "2021-06-20T09:49:12.067435+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: SBMA as ready",
"entity_name": "SBMA",
"entity_type": "str"
},
{
"created": "2021-06-20T09:49:12.055942+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sbma has been classified as Green List (High Evidence).",
"entity_name": "SBMA",
"entity_type": "str"
},
{
"created": "2021-06-20T09:49:08.493410+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: SBMA as Green List (high evidence)",
"entity_name": "SBMA",
"entity_type": "str"
},
{
"created": "2021-06-20T09:49:08.479670+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: sbma has been classified as Green List (High Evidence).",
"entity_name": "SBMA",
"entity_type": "str"
},
{
"created": "2021-06-20T09:48:56.848846+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: SBMA was added\nSTR: SBMA was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: SBMA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for STR: SBMA were set to 2062380; 20301508; 29325606\nPhenotypes for STR: SBMA were set to Spinal and bulbar muscular atrophy of Kennedy MIM#313200\nReview for STR: SBMA was set to GREEN\nSTR: SBMA was marked as clinically relevant\nAdded comment: NM_000044.4:c.172_174CAG[X]\r\nToxic gain of function mechanism of disease\r\nNormal: ≤34 repeats\r\nUnknown: 35 repeats, consideration of the affected individual's clinical presentation and reconciliation with repeat sizes in family members\r\nReduced-penetrance: 36-37 repeats, interpreted within the context of family history, clinical presentation, genotype-phenotype correlations in other family members.\r\nFull-penetrance: ≥38 repeats \nSources: Expert list",
"entity_name": "SBMA",
"entity_type": "str"
},
{
"created": "2021-06-20T09:42:13.080691+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added Panel Repeat Disorders\nSet panel types to: Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-06-19T18:11:05.577699+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDKN1C as ready",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2021-06-19T18:11:05.565369+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdkn1c has been classified as Red List (Low Evidence).",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2021-06-19T18:11:02.222124+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDKN1C were changed from to Beckwith-Wiedemann syndrome, MIM# 130650",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2021-06-19T17:29:07.482163+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDKN1C as Red List (low evidence)",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2021-06-19T17:29:07.470662+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdkn1c has been classified as Red List (Low Evidence).",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2021-06-19T17:28:38.835907+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDKN1C: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Beckwith-Wiedemann syndrome, MIM# 130650; Mode of inheritance: None",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2021-06-19T12:37:22.384436+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-06-19T12:36:56.341372+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TINF2 as ready",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2021-06-19T12:36:56.332137+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tinf2 has been classified as Green List (High Evidence).",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2021-06-19T12:36:45.197849+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TINF2 were changed from to Dyskeratosis congenita, autosomal dominant 3, MIM# 613990; Revesz syndrome, MIM# 268130",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2021-06-19T12:36:25.464248+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TINF2 were set to ",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2021-06-19T12:36:03.175209+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TINF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2021-06-19T12:35:38.338263+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TINF2: Added comment: RS is a severe variant of DKC with early bone marrow failure and retinopathy. Well established gene-disease associations.; Changed publications: 18252230, 21477109, 18979121, 18669893, 21199492, 33097095; Changed phenotypes: Dyskeratosis congenita, autosomal dominant 3, MIM# 613990, Revesz syndrome, MIM# 268130",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2021-06-19T12:35:28.395278+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TINF2 as ready",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2021-06-19T12:35:28.383808+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tinf2 has been classified as Green List (High Evidence).",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2021-06-19T12:35:11.097082+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TINF2 were changed from to Dyskeratosis congenita, autosomal dominant 3, MIM# 613990; Revesz syndrome, MIM# 268130",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2021-06-19T12:34:38.195038+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TINF2 were set to ",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2021-06-19T12:34:07.078642+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TINF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2021-06-19T12:33:37.064199+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TINF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18669893, 21199492, 18252230, 21477109, 33097095; Phenotypes: Dyskeratosis congenita, autosomal dominant 3, MIM# 613990, Revesz syndrome, MIM# 268130; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2021-06-19T12:29:30.537120+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TERT as ready",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2021-06-19T12:29:30.523979+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tert has been classified as Green List (High Evidence).",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2021-06-19T12:29:27.137527+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TERT were changed from to Dyskeratosis congenita, MIM# 613989; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2021-06-19T12:29:09.754722+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TERT were set to ",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2021-06-19T12:28:36.296898+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TERT was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2021-06-19T12:28:06.621192+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: None; Publications: 16247010, 15814878; Phenotypes: Dyskeratosis congenita, MIM# 613989, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2021-06-19T12:25:34.160314+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLF1 as ready",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2021-06-19T12:25:34.147655+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klf1 has been classified as Green List (High Evidence).",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2021-06-19T12:24:22.321002+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 5 affected individuals from 3 unrelated families reported, supportive animal model data. \nSources: Literature; to: 5 affected individuals from 3 unrelated families reported, supportive animal model data. Presentation was between adolescence and 40s with proximal muscle weakness primarily affecting the lower limbs, resulting in increased falls and difficulty running. The disorder was slowly progressive, with later involvement of the upper limbs. MRI showed fatty replacement of the thigh muscles and medial gastrocnemius, with some paraspinal muscles also affected. Some patients had calf hypertrophy. Serum CK was markedly elevated. \r\nSources: Literature",
"entity_name": "POPDC3",
"entity_type": "gene"
},
{
"created": "2021-06-19T12:24:08.117944+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 5 affected individuals from 3 unrelated families reported, supportive animal model data. \nSources: Literature; to: 5 affected individuals from 3 unrelated families reported, supportive animal model data. Presentation was between adolescence and 40s with proximal muscle weakness primarily affecting the lower limbs, resulting in increased falls and difficulty running. The disorder was slowly progressive, with later involvement of the upper limbs. MRI showed fatty replacement of the thigh muscles and medial gastrocnemius, with some paraspinal muscles also affected. Some patients had calf hypertrophy. Serum CK was markedly elevated. \r\nSources: Literature",
"entity_name": "POPDC3",
"entity_type": "gene"
},
{
"created": "2021-06-19T12:13:23.444067+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POPDC3 as ready",
"entity_name": "POPDC3",
"entity_type": "gene"
},
{
"created": "2021-06-19T12:13:23.428401+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: popdc3 has been classified as Green List (High Evidence).",
"entity_name": "POPDC3",
"entity_type": "gene"
},
{
"created": "2021-06-19T12:13:02.174010+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POPDC3 as Green List (high evidence)",
"entity_name": "POPDC3",
"entity_type": "gene"
},
{
"created": "2021-06-19T12:13:02.163088+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: popdc3 has been classified as Green List (High Evidence).",
"entity_name": "POPDC3",
"entity_type": "gene"
},
{
"created": "2021-06-19T12:12:46.069645+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POPDC3 was added\ngene: POPDC3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: POPDC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POPDC3 were set to 31610034\nPhenotypes for gene: POPDC3 were set to Muscular dystrophy, limb-girdle, autosomal recessive 26, MIM# 618848\nReview for gene: POPDC3 was set to GREEN\nAdded comment: 5 affected individuals from 3 unrelated families reported, supportive animal model data. \nSources: Literature",
"entity_name": "POPDC3",
"entity_type": "gene"
},
{
"created": "2021-06-19T12:11:41.552580+10:00",
"panel_name": "Limb Girdle Muscular Dystrophy",
"panel_id": 3071,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POPDC3 as ready",
"entity_name": "POPDC3",
"entity_type": "gene"
}
]
}