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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=424",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=422",
"results": [
{
"created": "2024-07-17T13:48:08.043114+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SENP7 as Green List (high evidence)",
"entity_name": "SENP7",
"entity_type": "gene"
},
{
"created": "2024-07-17T13:48:08.025728+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: senp7 has been classified as Green List (High Evidence).",
"entity_name": "SENP7",
"entity_type": "gene"
},
{
"created": "2024-07-17T13:47:31.055383+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SENP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 38972567; Phenotypes: Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SENP7",
"entity_type": "gene"
},
{
"created": "2024-07-17T13:32:22.030270+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 10 individuals from four unrelated families with bi-allelic variants in this gene with DCM. Supportive zebrafish model. Note the MYZAP and GCOM1 genes are part of the GRINL1A complex transcription unit. Some of the reported variants affect GCOM1 with postulated effect on MYZAP due to read through transcription (two families), and in the rest of the families MYZAP was affected directly. \nSources: Literature; to: 10 individuals from four unrelated families with bi-allelic variants in this gene with DCM. Supportive zebrafish model.\r\n\r\nThe MYZAP gene is part of the GRINL1A complex transcription unit (CTU), or GCOM1, which also includes the downstream POLR2M gene, or GRINL1A.. Some of the reported variants affect GCOM1 with postulated effect on MYZAP due to read through transcription (two families), and in the rest of the families MYZAP was affected directly.\r\n\r\nTranscription from an upstream promoter within the GRINL1A CTU produces 2 types of alternatively spliced transcripts: MYZAP transcripts, also called GRINL1A upstream (GUP) transcripts, which include only exons from the MYZAP gene, and GRINL1A combined (GCOM) transcripts, which include exons from both the MYZAP gene and the downstream POLR2M gene. Transcription of the POLR2M gene initiates at a downstream promoter within the GRINL1A CTU and produces alternatively spliced POLR2M transcripts, also called GRINL1A downstream (GDOWN) transcripts, which include only exons from the POLR2M gene\r\nSources: Literature",
"entity_name": "MYZAP",
"entity_type": "gene"
},
{
"created": "2024-07-17T13:31:27.106168+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 10 individuals from four unrelated families with bi-allelic variants in this gene with DCM. Supportive zebrafish model.\r\n\r\nNote the MYZAP and GCOM1 genes are part of the GRINL1A complex transcription unit. Some of the reported variants affect GCOM1 with postulated effect on MYZAP due to read through transcription (two families), and in the rest of the families MYZAP was affected directly. \nSources: Literature; to: 10 individuals from four unrelated families with bi-allelic variants in this gene with DCM. Supportive zebrafish model.\r\n\r\nThe MYZAP gene is part of the GRINL1A complex transcription unit (CTU), or GCOM1, which also includes the downstream POLR2M gene, or GRINL1A.. Some of the reported variants affect GCOM1 with postulated effect on MYZAP due to read through transcription (two families), and in the rest of the families MYZAP was affected directly.\r\n\r\nTranscription from an upstream promoter within the GRINL1A CTU produces 2 types of alternatively spliced transcripts: MYZAP transcripts, also called GRINL1A upstream (GUP) transcripts, which include only exons from the MYZAP gene, and GRINL1A combined (GCOM) transcripts, which include exons from both the MYZAP gene and the downstream POLR2M gene. Transcription of the POLR2M gene initiates at a downstream promoter within the GRINL1A CTU and produces alternatively spliced POLR2M transcripts, also called GRINL1A downstream (GDOWN) transcripts, which include only exons from the POLR2M gene\r\nSources: Literature",
"entity_name": "MYZAP",
"entity_type": "gene"
},
{
"created": "2024-07-17T13:29:10.096361+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYZAP as ready",
"entity_name": "MYZAP",
"entity_type": "gene"
},
{
"created": "2024-07-17T13:29:10.073153+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myzap has been classified as Green List (High Evidence).",
"entity_name": "MYZAP",
"entity_type": "gene"
},
{
"created": "2024-07-17T13:28:57.683169+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYZAP as Green List (high evidence)",
"entity_name": "MYZAP",
"entity_type": "gene"
},
{
"created": "2024-07-17T13:28:57.663804+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myzap has been classified as Green List (High Evidence).",
"entity_name": "MYZAP",
"entity_type": "gene"
},
{
"created": "2024-07-17T13:28:08.521273+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYZAP was added\ngene: MYZAP was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MYZAP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYZAP were set to 34899865; 35840178; 38436102; 20093627\nPhenotypes for gene: MYZAP were set to Cardiomyopathy, dilated, 2K, MIM# 620894\nReview for gene: MYZAP was set to GREEN\nAdded comment: 10 individuals from four unrelated families with bi-allelic variants in this gene with DCM. Supportive zebrafish model. Note the MYZAP and GCOM1 genes are part of the GRINL1A complex transcription unit. Some of the reported variants affect GCOM1 with postulated effect on MYZAP due to read through transcription (two families), and in the rest of the families MYZAP was affected directly. \nSources: Literature",
"entity_name": "MYZAP",
"entity_type": "gene"
},
{
"created": "2024-07-17T13:25:56.405915+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYZAP as ready",
"entity_name": "MYZAP",
"entity_type": "gene"
},
{
"created": "2024-07-17T13:25:56.389200+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myzap has been classified as Green List (High Evidence).",
"entity_name": "MYZAP",
"entity_type": "gene"
},
{
"created": "2024-07-17T13:25:51.998594+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYZAP as Green List (high evidence)",
"entity_name": "MYZAP",
"entity_type": "gene"
},
{
"created": "2024-07-17T13:25:51.985725+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myzap has been classified as Green List (High Evidence).",
"entity_name": "MYZAP",
"entity_type": "gene"
},
{
"created": "2024-07-17T13:25:14.194483+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYZAP was added\ngene: MYZAP was added to Dilated Cardiomyopathy. Sources: Literature\nMode of inheritance for gene: MYZAP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYZAP were set to 34899865; 35840178; 38436102; 20093627\nPhenotypes for gene: MYZAP were set to Cardiomyopathy, dilated, 2K, MIM#\t620894\nReview for gene: MYZAP was set to GREEN\nAdded comment: 10 individuals from four unrelated families with bi-allelic variants in this gene with DCM. Supportive zebrafish model.\r\n\r\nNote the MYZAP and GCOM1 genes are part of the GRINL1A complex transcription unit. Some of the reported variants affect GCOM1 with postulated effect on MYZAP due to read through transcription (two families), and in the rest of the families MYZAP was affected directly. \nSources: Literature",
"entity_name": "MYZAP",
"entity_type": "gene"
},
{
"created": "2024-07-16T16:59:55.366155+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.7",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: AFF2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35431806, 8334699, 21739600, 22773736; Phenotypes: Intellectual disability, X-linked, FRAXE type 309548; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AFF2",
"entity_type": "gene"
},
{
"created": "2024-07-16T16:27:35.623340+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.7",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: ALDH7A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16491085, 17068770, 32969477, 33200442, 17721876, 19142996, 22784480, 29053735; Phenotypes: Epilepsy, early-onset, 4, vitamin B6-dependent MIM #266100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2024-07-16T16:09:56.462440+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.7",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: AK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19043416, 19043417; Phenotypes: Reticular dysgenesis MIM# 267500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:48:33.295048+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.7",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: AGXT: Rating: GREEN; Mode of pathogenicity: None; Publications: 2039493, 19479957, 33789010; Phenotypes: Hyperoxaluria, primary, type 1 MIM #259900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:26:56.211009+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCBD1 as ready",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:26:56.198070+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcbd1 has been classified as Green List (High Evidence).",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:26:44.276734+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCBD1 as Green List (high evidence)",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:26:44.257330+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcbd1 has been classified as Green List (High Evidence).",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:26:28.177866+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAH as ready",
"entity_name": "PAH",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:26:28.164404+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pah has been classified as Green List (High Evidence).",
"entity_name": "PAH",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:26:03.432353+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PAH as Green List (high evidence)",
"entity_name": "PAH",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:26:03.410444+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pah has been classified as Green List (High Evidence).",
"entity_name": "PAH",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:25:48.980442+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OTC as ready",
"entity_name": "OTC",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:25:48.960163+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otc has been classified as Green List (High Evidence).",
"entity_name": "OTC",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:25:43.127062+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OTC as Green List (high evidence)",
"entity_name": "OTC",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:25:43.111414+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otc has been classified as Green List (High Evidence).",
"entity_name": "OTC",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:25:26.726816+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OAT as ready",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:25:26.707528+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oat has been classified as Green List (High Evidence).",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:25:22.716507+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OAT as Green List (high evidence)",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:25:22.690281+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oat has been classified as Green List (High Evidence).",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:25:08.485488+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAT8L as ready",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:25:08.472306+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nat8l has been classified as Red List (Low Evidence).",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:24:57.267254+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NAT8L as Red List (low evidence)",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:24:57.252867+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nat8l has been classified as Red List (Low Evidence).",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:24:41.961620+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAGS as ready",
"entity_name": "NAGS",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:24:41.943201+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nags has been classified as Green List (High Evidence).",
"entity_name": "NAGS",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:24:37.939160+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NAGS as Green List (high evidence)",
"entity_name": "NAGS",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:24:37.920706+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nags has been classified as Green List (High Evidence).",
"entity_name": "NAGS",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:24:24.758957+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTRR as ready",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:24:24.738192+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtrr has been classified as Green List (High Evidence).",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:24:20.987074+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MTRR as Green List (high evidence)",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:24:20.972635+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtrr has been classified as Green List (High Evidence).",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:24:06.055823+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTR as ready",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:24:06.007023+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtr has been classified as Green List (High Evidence).",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:24:02.052123+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MTR as Green List (high evidence)",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:24:01.983030+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtr has been classified as Green List (High Evidence).",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:23:45.877195+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTHFR as ready",
"entity_name": "MTHFR",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:23:45.856756+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mthfr has been classified as Green List (High Evidence).",
"entity_name": "MTHFR",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:23:39.724131+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MTHFR as Green List (high evidence)",
"entity_name": "MTHFR",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:23:39.705009+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mthfr has been classified as Green List (High Evidence).",
"entity_name": "MTHFR",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:23:15.424925+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPST as ready",
"entity_name": "MPST",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:23:15.409456+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpst has been classified as Red List (Low Evidence).",
"entity_name": "MPST",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:23:11.382196+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MPST as Red List (low evidence)",
"entity_name": "MPST",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:23:11.369270+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpst has been classified as Red List (Low Evidence).",
"entity_name": "MPST",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:22:54.363483+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MMACHC as ready",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:22:54.350855+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmachc has been classified as Green List (High Evidence).",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:22:49.653926+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MMACHC as Green List (high evidence)",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:22:49.639387+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmachc has been classified as Green List (High Evidence).",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:22:33.252685+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCEE as ready",
"entity_name": "MCEE",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:22:33.233755+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcee has been classified as Green List (High Evidence).",
"entity_name": "MCEE",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:22:22.764412+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MCEE as Green List (high evidence)",
"entity_name": "MCEE",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:22:22.749320+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcee has been classified as Green List (High Evidence).",
"entity_name": "MCEE",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:22:02.913241+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAT1A as ready",
"entity_name": "MAT1A",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:22:02.892340+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mat1a has been classified as Green List (High Evidence).",
"entity_name": "MAT1A",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:21:42.135048+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAT1A as Green List (high evidence)",
"entity_name": "MAT1A",
"entity_type": "gene"
},
{
"created": "2024-07-16T15:21:42.118988+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mat1a has been classified as Green List (High Evidence).",
"entity_name": "MAT1A",
"entity_type": "gene"
},
{
"created": "2024-07-16T13:28:19.659490+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.7",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: CTSD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 10, MIM# 610127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2024-07-16T12:02:06.942842+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.7",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: None; Publications: 10196363, 33157103, 31772327, 31511561, 26242992, 34354969, 22398176; Phenotypes: Anaemia, sideroblastic, with ataxia MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2024-07-16T12:00:57.709879+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.7",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2024-07-16T12:00:20.406732+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.7",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "changed review comment from: HGNC approved symbol/name: ABCB7\r\nReported cases of ataxia are typically childhood onset and progressive, anaemia reported to be mostly mild.; to: HGNC approved symbol/name: ABCB7\r\nReported cases of ataxia are typically childhood onset and progressive, anaemia reported to be mostly mild.",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2024-07-16T12:00:04.659067+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.7",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 7, MIM# 616276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2024-07-16T11:51:09.200868+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.7",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: ABCB7: Rating: ; Mode of pathogenicity: None; Publications: 10196363, 33157103, 31772327, 31511561, 26242992, 34354969, 22398176; Phenotypes: Anaemia, sideroblastic, with ataxia MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2024-07-15T16:51:13.312102+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.7",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26885414, 20301788, 35834487, 27106217; Phenotypes: Glycogen storage disease IIIa and IIIb, MIM#232400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2024-07-15T16:01:34.360898+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.7",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: ACY1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16274666, 16465618, 17562838, 24117009, 37523070, 29653693, 26686503; Phenotypes: Aminoacylase 1 deficiency, MIM# 609924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ACY1",
"entity_type": "gene"
},
{
"created": "2024-07-15T14:09:49.103365+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.7",
"user_name": "Karina Sandoval",
"item_type": "entity",
"text": "reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20362274, 22019070, 26173962, 31523922, 31783324, 28299359, 25934856, 28842795, 28842795; Phenotypes: Combined oxidative phosphorylation deficiency 6, 300816, Cowchock syndrome, 310490, Deafness, X-linked 5, 300614, Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2024-07-15T13:26:43.785049+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRCC3 as ready",
"entity_name": "BRCC3",
"entity_type": "gene"
},
{
"created": "2024-07-15T13:26:43.771178+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brcc3 has been classified as Red List (Low Evidence).",
"entity_name": "BRCC3",
"entity_type": "gene"
},
{
"created": "2024-07-15T13:26:15.670352+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BRCC3 were set to 21596366",
"entity_name": "BRCC3",
"entity_type": "gene"
},
{
"created": "2024-07-15T13:25:23.909313+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 21596366: three unrelated families with multiple affected males segregating a deletion involving MTCP1 and BRCC3. Positional approach used. Supportive zebrafish model, knockdown of BRCC3; angiogenesis affected.\r\n\r\nPMID 33868155, additional report of affected male, with similar deletion.; to: PMID 21596366: three unrelated families with multiple affected males segregating a deletion involving MTCP1 and BRCC3. Positional approach used. Supportive zebrafish model, knockdown of BRCC3; angiogenesis affected.\r\n\r\nPMID 33868155, additional report of affected male, with similar deletion.\r\n\r\nNo reports of SNVs identified, including in ClinVar.",
"entity_name": "BRCC3",
"entity_type": "gene"
},
{
"created": "2024-07-15T13:25:01.352208+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BRCC3: Changed rating: RED",
"entity_name": "BRCC3",
"entity_type": "gene"
},
{
"created": "2024-07-15T13:23:34.826077+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BRCC3: Rating: ; Mode of pathogenicity: None; Publications: 21596366, 33868155; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "BRCC3",
"entity_type": "gene"
},
{
"created": "2024-07-15T10:50:32.748115+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.194",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RAF1 as Green List (high evidence)",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2024-07-15T10:50:32.713007+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.194",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: raf1 has been classified as Green List (High Evidence).",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2024-07-15T10:50:08.550866+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.195",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MAP2K1 as Green List (high evidence)",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2024-07-15T10:50:08.529475+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.195",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: map2k1 has been classified as Green List (High Evidence).",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2024-07-15T10:49:43.809685+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.194",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: BRAF as Green List (high evidence)",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2024-07-15T10:49:43.776086+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.194",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: braf has been classified as Green List (High Evidence).",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2024-07-15T10:49:19.336259+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.194",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RAF1 as Green List (high evidence)",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2024-07-15T10:49:19.306546+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.194",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: raf1 has been classified as Green List (High Evidence).",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2024-07-15T10:48:52.070207+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.194",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RAF1 as Green List (high evidence)",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2024-07-15T10:48:52.022983+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.194",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: raf1 has been classified as Green List (High Evidence).",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2024-07-15T10:48:30.031161+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.193",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PTPN11 as Green List (high evidence)",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2024-07-15T10:48:29.975370+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.193",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ptpn11 has been classified as Green List (High Evidence).",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2024-07-15T10:48:06.470986+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.193",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: MAP2K1 was added\ngene: MAP2K1 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAP2K1 were set to PMID: 20301557\nPhenotypes for gene: MAP2K1 were set to Noonan Syndrome with Multiple Lentigines, OMIM # 615279\nReview for gene: MAP2K1 was set to GREEN\ngene: MAP2K1 was marked as current diagnostic\nAdded comment: Established gene-disease association.\r\nSensorineural hearing loss is present in ~20% of 'Noonan Syndrome with Multiple Lentigines' \nSources: Literature",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2024-07-15T10:45:39.428584+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.192",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: RAF1 was added\ngene: RAF1 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAF1 were set to PMID: 20301557\nPhenotypes for gene: RAF1 were set to Noonan Syndrome with Multiple Lentigines, OMIM # 611554\nReview for gene: RAF1 was set to GREEN\ngene: RAF1 was marked as current diagnostic\nAdded comment: Established gene-disease association.\r\nSensorineural hearing loss is present in ~20% of 'Noonan Syndrome with Multiple Lentigines' \nSources: Literature",
"entity_name": "RAF1",
"entity_type": "gene"
}
]
}