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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=442",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=440",
"results": [
{
"created": "2024-05-29T16:38:28.007233+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP4M1 were set to 19559397; 24065543; 25496299",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2024-05-29T16:37:34.957341+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACAD9 as ready",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2024-05-29T16:37:34.942015+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acad9 has been classified as Red List (Low Evidence).",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2024-05-29T16:37:30.026823+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACAD9 as Red List (low evidence)",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2024-05-29T16:37:29.994876+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acad9 has been classified as Red List (Low Evidence).",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2024-05-29T16:36:43.948025+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARMC9 as ready",
"entity_name": "ARMC9",
"entity_type": "gene"
},
{
"created": "2024-05-29T16:36:43.934128+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: armc9 has been classified as Red List (Low Evidence).",
"entity_name": "ARMC9",
"entity_type": "gene"
},
{
"created": "2024-05-29T16:36:37.908776+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARMC9 as Red List (low evidence)",
"entity_name": "ARMC9",
"entity_type": "gene"
},
{
"created": "2024-05-29T16:36:37.892926+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: armc9 has been classified as Red List (Low Evidence).",
"entity_name": "ARMC9",
"entity_type": "gene"
},
{
"created": "2024-05-29T16:35:57.157534+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARSA as ready",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2024-05-29T16:35:57.142558+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arsa has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2024-05-29T16:35:34.929259+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARSA as Amber List (moderate evidence)",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2024-05-29T16:35:34.915053+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arsa has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2024-05-29T16:34:50.629143+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASL as ready",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2024-05-29T16:34:50.611879+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asl has been classified as Red List (Low Evidence).",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2024-05-29T16:34:44.527036+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ASL as Red List (low evidence)",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2024-05-29T16:34:44.512602+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asl has been classified as Red List (Low Evidence).",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2024-05-29T16:33:52.821832+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASPA as ready",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2024-05-29T16:33:52.808514+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aspa has been classified as Red List (Low Evidence).",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2024-05-29T16:33:48.052100+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ASPA as Red List (low evidence)",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2024-05-29T16:33:48.039383+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aspa has been classified as Red List (Low Evidence).",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2024-05-29T16:33:07.666653+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATR as ready",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2024-05-29T16:33:07.642885+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atr has been classified as Red List (Low Evidence).",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2024-05-29T16:33:03.433939+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATR as Red List (low evidence)",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2024-05-29T16:33:03.416505+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atr has been classified as Red List (Low Evidence).",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2024-05-29T16:32:20.169375+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B4GALNT1 as ready",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2024-05-29T16:32:20.150376+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b4galnt1 has been classified as Red List (Low Evidence).",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2024-05-29T16:32:06.414028+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: B4GALNT1 as Red List (low evidence)",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2024-05-29T16:32:06.395841+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b4galnt1 has been classified as Red List (Low Evidence).",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2024-05-29T16:31:24.091514+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1B as ready",
"entity_name": "CACNA1B",
"entity_type": "gene"
},
{
"created": "2024-05-29T16:31:24.072978+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1b has been classified as Red List (Low Evidence).",
"entity_name": "CACNA1B",
"entity_type": "gene"
},
{
"created": "2024-05-29T16:31:18.590826+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CACNA1B as Red List (low evidence)",
"entity_name": "CACNA1B",
"entity_type": "gene"
},
{
"created": "2024-05-29T16:31:18.575358+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1b has been classified as Red List (Low Evidence).",
"entity_name": "CACNA1B",
"entity_type": "gene"
},
{
"created": "2024-05-29T15:15:54.580704+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DPYD as ready",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2024-05-29T15:15:54.554073+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpyd has been classified as Amber List (Moderate Evidence).",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2024-05-29T15:15:48.713188+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DPYD were changed from to Dihydropyrimidine dehydrogenase deficiency (MIM#274270)",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2024-05-29T15:14:57.948328+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6012",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DPYD were set to ",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2024-05-29T15:14:13.348507+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DPYD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2024-05-29T15:13:31.211598+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DPYD as Amber List (moderate evidence)",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2024-05-29T15:13:31.193474+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpyd has been classified as Amber List (Moderate Evidence).",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2024-05-29T15:11:14.244516+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DMD as ready",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2024-05-29T15:11:14.214428+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dmd has been classified as Green List (High Evidence).",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2024-05-29T15:11:05.133386+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DMD were changed from to Duchenne muscular dystrophy MIM#310200",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2024-05-29T15:10:17.192956+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DMD was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2024-05-29T15:09:40.488834+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: DMD.",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2024-05-29T15:09:30.713918+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Duchenne muscular dystrophy MIM#310200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2024-05-29T15:09:28.972760+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6007",
"user_name": "Katie Thompson",
"item_type": "entity",
"text": "changed review comment from: Decipher - only disorder of glycosolation (XLR)\r\nORPHA:370927\r\nOMIM: 300934. 2 good quality papers, one with 4 unrelated families, two with mendelian inheritance. Evidence of less severe phenotype in heterozygote females\r\nWestern blot showed complete loss of protein; to: Decipher - disorder of glycosolation (XLR), strong evidence\r\nORPHA:370927 GenCC strong. Not in gene2phenotype.\r\nOMIM: 300934. 2 good quality papers, one with 4 unrelated families, two with mendelian inheritance. Evidence of less severe phenotype in heterozygote females\r\nWestern blot showed complete loss of protein. All variants caused loss of function mainly from premature termination. ",
"entity_name": "SSR4",
"entity_type": "gene"
},
{
"created": "2024-05-29T15:06:41.352748+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COG7 as ready",
"entity_name": "COG7",
"entity_type": "gene"
},
{
"created": "2024-05-29T15:06:41.327012+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog7 has been classified as Green List (High Evidence).",
"entity_name": "COG7",
"entity_type": "gene"
},
{
"created": "2024-05-29T15:06:35.200830+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COG7 were changed from to Congenital disorder of glycosylation, type IIe , MIM#608779",
"entity_name": "COG7",
"entity_type": "gene"
},
{
"created": "2024-05-29T15:06:00.701392+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COG7 were set to ",
"entity_name": "COG7",
"entity_type": "gene"
},
{
"created": "2024-05-29T15:03:20.394561+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COG7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG7",
"entity_type": "gene"
},
{
"created": "2024-05-29T15:02:32.234604+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COG7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG7",
"entity_type": "gene"
},
{
"created": "2024-05-29T15:01:17.489579+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COG7: Rating: GREEN; Mode of pathogenicity: None; Publications: 15107842, 17356545, 28883096; Phenotypes: Congenital disorder of glycosylation, type IIe , MIM#608779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG7",
"entity_type": "gene"
},
{
"created": "2024-05-29T14:59:45.876061+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6004",
"user_name": "Katie Thompson",
"item_type": "entity",
"text": "changed review comment from: PMID: 24218363; 26264460\r\nSSR4\r\nDecipher - only disorder of glycosolation (XLR)\r\nORPHA:370927\r\nOMIM: 300934. 2 good quality papers, one with 4 unrelated families, two with mendelian inheritance. Evidence of less severe phenotype in heterozygote females; to: Decipher - only disorder of glycosolation (XLR)\r\nORPHA:370927\r\nOMIM: 300934. 2 good quality papers, one with 4 unrelated families, two with mendelian inheritance. Evidence of less severe phenotype in heterozygote females\r\nWestern blot showed complete loss of protein",
"entity_name": "SSR4",
"entity_type": "gene"
},
{
"created": "2024-05-29T14:59:28.879327+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COG1 as ready",
"entity_name": "COG1",
"entity_type": "gene"
},
{
"created": "2024-05-29T14:59:28.866748+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog1 has been classified as Green List (High Evidence).",
"entity_name": "COG1",
"entity_type": "gene"
},
{
"created": "2024-05-29T14:59:24.226918+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COG1 were changed from to Congenital disorder of glycosylation, type IIg, MIM# 611209",
"entity_name": "COG1",
"entity_type": "gene"
},
{
"created": "2024-05-29T14:56:47.086394+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COG1 were set to ",
"entity_name": "COG1",
"entity_type": "gene"
},
{
"created": "2024-05-29T14:56:04.594849+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG1",
"entity_type": "gene"
},
{
"created": "2024-05-29T14:55:30.383794+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6001",
"user_name": "Katie Thompson",
"item_type": "entity",
"text": "reviewed gene: SSR4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24218363, 26264460; Phenotypes: intellectual disabilities, hypotonia, microcephaly, seizures, Feeding problems, Facial dysmorphism, Gastrointestinal abnormalities, Failure to thrive, strabismus; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "SSR4",
"entity_type": "gene"
},
{
"created": "2024-05-29T14:55:08.347091+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16537452, 19008299, 17904886, 11980916; Phenotypes: Congenital disorder of glycosylation, type IIg, MIM# 611209; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG1",
"entity_type": "gene"
},
{
"created": "2024-05-29T14:51:46.215087+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL4A1 as ready",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2024-05-29T14:51:46.192491+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a1 has been classified as Green List (High Evidence).",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2024-05-29T14:51:41.600225+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A1 were changed from to COL4A1-related disorder MONDO:0800461",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2024-05-29T14:51:00.563508+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6000",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL4A1 were set to ",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2024-05-29T14:45:53.931672+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL4A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2024-05-29T14:08:07.793794+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNAP29 as ready",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2024-05-29T14:08:07.773304+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snap29 has been classified as Green List (High Evidence).",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2024-05-29T14:08:03.019126+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNAP29 were changed from to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528)",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2024-05-29T14:07:20.574369+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SNAP29 were set to ",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2024-05-29T14:06:55.164282+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SNAP29 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2024-05-29T14:06:18.060979+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SNAP29 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2024-05-29T14:05:39.116789+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SNAP29: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2024-05-29T14:04:56.243448+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GABRA4 were changed from Neurodevelopmental disorder MONDO:0700092, GABRA4-related to Neurodevelopmental disorder MONDO:0700092, GABRA4-related",
"entity_name": "GABRA4",
"entity_type": "gene"
},
{
"created": "2024-05-29T14:03:08.189026+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GABRA4 were changed from Developmental and epileptic encephalopathy MONDO:0100062, GABRA4-related to Neurodevelopmental disorder MONDO:0700092, GABRA4-related",
"entity_name": "GABRA4",
"entity_type": "gene"
},
{
"created": "2024-05-29T14:02:06.784394+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GABRA4 as Green List (high evidence)",
"entity_name": "GABRA4",
"entity_type": "gene"
},
{
"created": "2024-05-29T14:02:06.771655+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabra4 has been classified as Green List (High Evidence).",
"entity_name": "GABRA4",
"entity_type": "gene"
},
{
"created": "2024-05-29T14:01:29.107794+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GABRA4 as Green List (high evidence)",
"entity_name": "GABRA4",
"entity_type": "gene"
},
{
"created": "2024-05-29T14:01:29.088247+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabra4 has been classified as Green List (High Evidence).",
"entity_name": "GABRA4",
"entity_type": "gene"
},
{
"created": "2024-05-29T14:00:42.078833+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GABRA4: Added comment: Three more novel de novo missense variants in GABRA4 (NM_000809.4): c.797 C > T, p.(Pro266Leu), c.899 C > A, p.(Thr300Asn), and c.634 G > A, p.(Val212Ile) reported.\r\n\r\nThe p.(Thr300Asn) variant impacts the same codon as the previously reported variant p.(Thr300Ile) and likely arose post-zygotically as evidenced by sequencing oral mucosal cells.\r\n\r\nOverlapping phenotypes among affected individuals included developmental delay (4/4), epileptiform EEG abnormalities (3/4), attention deficits (3/4), seizures (2/4), autistic features (2/4) and structural brain abnormalities (2/4).; Changed rating: GREEN; Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, GABRA4-related",
"entity_name": "GABRA4",
"entity_type": "gene"
},
{
"created": "2024-05-29T13:59:21.956720+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GABRA4 were changed from Developmental and epileptic encephalopathy MONDO:0100062, GABRA4-related to Neurodevelopmental disorder MONDO:0700092, GABRA4-related",
"entity_name": "GABRA4",
"entity_type": "gene"
},
{
"created": "2024-05-29T13:58:47.543604+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GABRA4 were set to 35152403",
"entity_name": "GABRA4",
"entity_type": "gene"
},
{
"created": "2024-05-29T13:58:13.717718+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GABRA4 as Green List (high evidence)",
"entity_name": "GABRA4",
"entity_type": "gene"
},
{
"created": "2024-05-29T13:58:13.703529+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabra4 has been classified as Green List (High Evidence).",
"entity_name": "GABRA4",
"entity_type": "gene"
},
{
"created": "2024-05-29T13:57:53.516609+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GABRA4: Added comment: Three more novel de novo missense variants in GABRA4 (NM_000809.4): c.797 C > T, p.(Pro266Leu), c.899 C > A, p.(Thr300Asn), and c.634 G > A, p.(Val212Ile) reported.\r\n\r\nThe p.(Thr300Asn) variant impacts the same codon as the previously reported variant p.(Thr300Ile) and likely arose post-zygotically as evidenced by sequencing oral mucosal cells.\r\n\r\nOverlapping phenotypes among affected individuals included developmental delay (4/4), epileptiform EEG abnormalities (3/4), attention deficits (3/4), seizures (2/4), autistic features (2/4) and structural brain abnormalities (2/4).; Changed rating: GREEN; Changed publications: 35152403, 38565639; Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, GABRA4-related",
"entity_name": "GABRA4",
"entity_type": "gene"
},
{
"created": "2024-05-29T13:55:18.513431+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GABRA4 as ready",
"entity_name": "GABRA4",
"entity_type": "gene"
},
{
"created": "2024-05-29T13:55:18.498812+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabra4 has been classified as Green List (High Evidence).",
"entity_name": "GABRA4",
"entity_type": "gene"
},
{
"created": "2024-05-29T13:55:14.448326+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GABRA4 were changed from Developmental delay; Intellectual disability; Epileptic seizures to Neurodevelopmental disorder MONDO:0700092, GABRA4-related",
"entity_name": "GABRA4",
"entity_type": "gene"
},
{
"created": "2024-05-29T13:54:32.897136+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GABRA4 as Green List (high evidence)",
"entity_name": "GABRA4",
"entity_type": "gene"
},
{
"created": "2024-05-29T13:54:32.884079+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabra4 has been classified as Green List (High Evidence).",
"entity_name": "GABRA4",
"entity_type": "gene"
},
{
"created": "2024-05-29T13:53:08.603143+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GABRA4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder MONDO:0700092, GABRA4-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GABRA4",
"entity_type": "gene"
},
{
"created": "2024-05-29T10:49:13.625499+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5993",
"user_name": "Gunjan Garg",
"item_type": "entity",
"text": "reviewed gene: SNAP29: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33977139, 30793783, 29051910; Phenotypes: cerebral dysgenesis, 609528, Global developmental delay, schizencephaly, polymicrogyria, intellectual disability, neurodevelopment delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2024-05-28T19:20:01.492247+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP290 as ready",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2024-05-28T19:20:01.462768+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep290 has been classified as Red List (Low Evidence).",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2024-05-28T19:19:56.437683+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP290 as Red List (low evidence)",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2024-05-28T19:19:56.423688+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep290 has been classified as Red List (Low Evidence).",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2024-05-28T19:19:14.941522+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL6A3 as ready",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2024-05-28T19:19:14.927439+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col6a3 has been classified as Red List (Low Evidence).",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2024-05-28T19:19:08.892003+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL6A3 as Red List (low evidence)",
"entity_name": "COL6A3",
"entity_type": "gene"
}
]
}