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{
"count": 220377,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1495",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1493",
"results": [
{
"created": "2020-11-27T19:05:22.282437+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hars2 has been classified as Green List (High Evidence).",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2020-11-27T19:04:20.593345+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autosomal dominant hearing loss, MIM# 608641; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2020-11-27T19:03:59.062643+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRHL2 as ready",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2020-11-27T19:03:59.054679+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grhl2 has been classified as Green List (High Evidence).",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2020-11-27T18:59:47.335943+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRHL2 were changed from Hearing loss to Autosomal dominant hearing loss, MIM# 608641",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2020-11-27T18:59:30.225362+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GRHL2 as Green List (high evidence)",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2020-11-27T18:59:30.217456+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grhl2 has been classified as Green List (High Evidence).",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2020-11-27T18:57:50.318160+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP7A as ready",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2020-11-27T18:57:50.302775+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp7a has been classified as Green List (High Evidence).",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2020-11-27T18:57:42.343454+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP7A were changed from to Occipital horn syndrome, 304150; X-linked recessive Menkes disease, 309400 Spinal muscular atrophy, distal, X-linked 3, 300489",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2020-11-27T18:56:10.162879+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP7A were set to ",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2020-11-27T18:55:48.555145+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP7A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2020-11-27T18:52:09.357029+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD4 as ready",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-11-27T18:52:09.347353+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd4 has been classified as Red List (Low Evidence).",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-11-27T18:52:06.790815+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHD4 were changed from Moya Moya; intellectual disability to Moya Moya; Sifrim-Hitz-Weiss syndrome, MIM#\t617159",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-11-27T18:51:05.728757+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SETD5 as ready",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2020-11-27T18:51:05.720828+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: setd5 has been classified as Red List (Low Evidence).",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2020-11-27T18:50:57.538254+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETD5 were changed from Moya Moya; intellectual disability to Moya Moya; Mental retardation, autosomal dominant 23, MIM#\t615761",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2020-11-27T18:49:33.421991+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX1 as ready",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2020-11-27T18:49:33.412630+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex1 has been classified as Green List (High Evidence).",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2020-11-27T18:49:19.706333+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX1 were changed from to Heimler syndrome 1 234580; Peroxisome biogenesis disorder 1A (Zellweger) 214100; . Peroxisome biogenesis disorder 1B (NALD/IRD) 601539",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2020-11-27T18:48:59.728657+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX1 were set to ",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2020-11-27T18:48:28.471869+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2020-11-27T18:14:54.493656+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CNOT3 were changed from Moya Moya; iIntellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM#\t618672 to Moya Moya; Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM#\t618672",
"entity_name": "CNOT3",
"entity_type": "gene"
},
{
"created": "2020-11-27T18:14:39.802221+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNOT3 as ready",
"entity_name": "CNOT3",
"entity_type": "gene"
},
{
"created": "2020-11-27T18:14:39.788854+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cnot3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CNOT3",
"entity_type": "gene"
},
{
"created": "2020-11-27T18:14:37.383019+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CNOT3 were changed from Moya Moya; intellectual disability to Moya Moya; iIntellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM#\t618672",
"entity_name": "CNOT3",
"entity_type": "gene"
},
{
"created": "2020-11-27T16:56:09.337997+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3222",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HDAC4 as Green List (high evidence)",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-11-27T16:56:09.330085+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3222",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hdac4 has been classified as Green List (High Evidence).",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-11-27T16:55:30.974934+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3221",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: HDAC4: Rating: GREEN; Mode of pathogenicity: None; Publications: https://doi.org/10.1016/j.xhgg.2020.100015; Phenotypes: Intellectual disability, hypotonia, dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-11-27T16:48:25.741058+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5477",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: HDAC4 were set to 24715439; 20691407; 31209962",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-11-27T16:47:23.057356+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5476",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HDAC4 as Green List (high evidence)",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-11-27T16:47:23.049304+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5476",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hdac4 has been classified as Green List (High Evidence).",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-11-27T16:46:07.994508+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5475",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: HDAC4 were changed from Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability to Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability; Intellectual disability syndrome",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-11-27T16:44:08.850778+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5474",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: HDAC4: Rating: GREEN; Mode of pathogenicity: None; Publications: https://doi.org/10.1016/j.xhgg.2020.100015; Phenotypes: Intellectual disability, hypotonia, dysmorphism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-11-27T15:19:13.750815+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.163",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2020-11-27T15:16:41.049589+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.208",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: KARS was added\ngene: KARS was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KARS were set to 30737337; 31116475; 30715177\nPhenotypes for gene: KARS were set to deafness and leukodystrophy\nReview for gene: KARS was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2020-11-27T15:14:16.816736+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.163",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30737337, 31116475, 30715177; Phenotypes: deafness with progressive leukodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2020-11-27T15:04:09.270265+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.163",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: HOMER2 was added\ngene: HOMER2 was added to Additional findings_Paediatric. Sources: Expert list\nMode of inheritance for gene: HOMER2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HOMER2 were set to Autosomal dominant non syndromic deafness\nReview for gene: HOMER2 was set to GREEN\nAdded comment: Moderate by ClinGen hearing loss expert committee. Isolated hearing impairment onset in first decade of life. \nSources: Expert list",
"entity_name": "HOMER2",
"entity_type": "gene"
},
{
"created": "2020-11-27T15:01:22.187595+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.163",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: HGF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autosomal recessive non syndromic deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HGF",
"entity_type": "gene"
},
{
"created": "2020-11-27T14:59:45.953225+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.11",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: LDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10978268; Phenotypes: Hypercholesterolemia, familial, 1 143890; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "LDLR",
"entity_type": "gene"
},
{
"created": "2020-11-27T14:54:31.777783+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.163",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: HARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome, autosomal recessive sensorineural hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2020-11-27T14:50:33.407810+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.163",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: GRHL2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Autosomal dominant hearing loss, MIM# 608641; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2020-11-27T14:20:03.567551+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5474",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: SEC61A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28782633, 27392076; Phenotypes: Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056, Hypogammaglobulinaemia, Neutropaenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2020-11-27T14:09:16.674768+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5474",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21221114; Phenotypes: Occipital horn syndrome, 304150, X-linked recessive Menkes disease, 309400 Spinal muscular atrophy, distal, X-linked 3, 300489; 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": "ATP7A",
"entity_type": "gene"
},
{
"created": "2020-11-27T13:31:41.804571+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.10",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: CHD4 was added\ngene: CHD4 was added to Cerebral vascular malformations. Sources: Literature\nMode of inheritance for gene: CHD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHD4 were set to 31474762\nPhenotypes for gene: CHD4 were set to Moya Moya; intellectual disability\nPenetrance for gene: CHD4 were set to Incomplete\nReview for gene: CHD4 was set to RED\nAdded comment: 5 individuals reported with Moya Moya and ID, but only in one was de novo inheritance confirmed. 4 missense variants and one canonical splice. \nSources: Literature",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-11-27T13:28:45.856594+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.9",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: SETD5 was added\ngene: SETD5 was added to Cerebral vascular malformations. Sources: Literature\nMode of inheritance for gene: SETD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SETD5 were set to 31474762\nPhenotypes for gene: SETD5 were set to Moya Moya; intellectual disability\nPenetrance for gene: SETD5 were set to Complete\nReview for gene: SETD5 was set to RED\nAdded comment: single family reported with de novo SETD5 frameshift in a child with ID and Moya Moya. 2 other families with novel missense and concordant phenotypes but no parental segregation performed. \nSources: Literature",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2020-11-27T13:26:32.207746+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.8",
"user_name": "Sue White",
"item_type": "entity",
"text": "Classified gene: CNOT3 as Amber List (moderate evidence)",
"entity_name": "CNOT3",
"entity_type": "gene"
},
{
"created": "2020-11-27T13:26:32.200211+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.8",
"user_name": "Sue White",
"item_type": "entity",
"text": "Gene: cnot3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CNOT3",
"entity_type": "gene"
},
{
"created": "2020-11-27T13:26:18.509456+11:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.7",
"user_name": "Sue White",
"item_type": "entity",
"text": "gene: CNOT3 was added\ngene: CNOT3 was added to Cerebral vascular malformations. Sources: Literature\nMode of inheritance for gene: CNOT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CNOT3 were set to 31474762\nPhenotypes for gene: CNOT3 were set to Moya Moya; intellectual disability\nPenetrance for gene: CNOT3 were set to Complete\nReview for gene: CNOT3 was set to AMBER\nAdded comment: 2 families with de novo variants (one nonsense and one missense) in individuals with ID and Moya Moya \nSources: Literature",
"entity_name": "CNOT3",
"entity_type": "gene"
},
{
"created": "2020-11-27T12:25:22.387588+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5474",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: PEX1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26387595; Phenotypes: Heimler syndrome 1 234580, Peroxisome biogenesis disorder 1A (Zellweger) 214100, . Peroxisome biogenesis disorder 1B (NALD/IRD) 601539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2020-11-27T10:22:00.659689+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.155",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TMEM218 as ready",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2020-11-27T10:22:00.647212+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.155",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tmem218 has been classified as Green List (High Evidence).",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2020-11-27T10:21:56.793383+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.155",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TMEM218 as Green List (high evidence)",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2020-11-27T10:21:56.785455+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.155",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tmem218 has been classified as Green List (High Evidence).",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2020-11-27T10:21:43.000542+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.154",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TMEM218 was added\ngene: TMEM218 was added to Syndromic Retinopathy. Sources: Literature\nMode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM218 were set to https://doi.org/10.1016/j.xhgg.2020.100016; 25161209\nPhenotypes for gene: TMEM218 were set to Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele\nReview for gene: TMEM218 was set to GREEN\nAdded comment: 11 cases in 6 families with homozygous or compound heterozygous missense and nonsense (1) variants, with a Joubert/Meckel syndrome phenotype. Clinical features included the molar tooth sign (N=2), occipital encephalocele (N=5, all fetuses), retinal dystrophy (N=4, all living individuals), polycystic kidneys (N=2), and polydactyly (N=2), without liver involvement. A null mouse model had nephronophthisis and retinal degeneration. No OMIM entry. \nSources: Literature",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2020-11-27T10:19:10.520019+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.90",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TMEM218 as ready",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2020-11-27T10:19:10.508159+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.90",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tmem218 has been classified as Green List (High Evidence).",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2020-11-27T10:19:04.414044+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.90",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TMEM218 as Green List (high evidence)",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2020-11-27T10:19:04.403190+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.90",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tmem218 has been classified as Green List (High Evidence).",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2020-11-27T10:17:32.912931+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.89",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TMEM218 was added\ngene: TMEM218 was added to Joubert syndrome and other neurological ciliopathies. Sources: Literature\nMode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM218 were set to https://doi.org/10.1016/j.xhgg.2020.100016; 25161209\nPhenotypes for gene: TMEM218 were set to Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele\nReview for gene: TMEM218 was set to GREEN\nAdded comment: 11 cases in 6 families with homozygous or compound heterozygous missense and nonsense (1) variants, with a Joubert/Meckel syndrome phenotype. Clinical features included the molar tooth sign (N=2), occipital encephalocele (N=5, all fetuses), retinal dystrophy (N=4, all living individuals), polycystic kidneys (N=2), and polydactyly (N=2), without liver involvement. A null mouse model had nephronophthisis and retinal degeneration. No OMIM entry. \nSources: Literature",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2020-11-27T10:14:44.479286+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5474",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TMEM218 as ready",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2020-11-27T10:14:44.462160+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5474",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tmem218 has been classified as Green List (High Evidence).",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2020-11-27T10:14:36.808119+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5474",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TMEM218 as Green List (high evidence)",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2020-11-27T10:14:36.800752+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5474",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tmem218 has been classified as Green List (High Evidence).",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2020-11-27T10:14:15.821510+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5473",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TMEM218 was added\ngene: TMEM218 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM218 were set to https://doi.org/10.1016/j.xhgg.2020.100016; 25161209\nPhenotypes for gene: TMEM218 were set to Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele\nReview for gene: TMEM218 was set to GREEN\nAdded comment: 11 cases in 6 families with homozygous or compound heterozygous missense and nonsense (1) variants, with a Joubert/Meckel syndrome phenotype. Clinical features included the molar tooth sign (N=2), occipital encephalocele (N=5, all fetuses), retinal dystrophy (N=4, all living individuals), polycystic kidneys (N=2), and polydactyly (N=2), without liver involvement. A null mouse model had nephronophthisis and retinal degeneration. No OMIM entry. \nSources: Literature",
"entity_name": "TMEM218",
"entity_type": "gene"
},
{
"created": "2020-11-27T09:31:53.814147+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGBL1 as ready",
"entity_name": "AGBL1",
"entity_type": "gene"
},
{
"created": "2020-11-27T09:31:53.806491+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agbl1 has been classified as Red List (Low Evidence).",
"entity_name": "AGBL1",
"entity_type": "gene"
},
{
"created": "2020-11-27T09:31:42.313576+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGBL1 was added\ngene: AGBL1 was added to Mendeliome. Sources: Expert Review\ndisputed tags were added to gene: AGBL1.\nMode of inheritance for gene: AGBL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AGBL1 were set to 24094747; 31555324\nPhenotypes for gene: AGBL1 were set to Corneal dystrophy, Fuchs endothelial, 8, MIM#\t615523\nReview for gene: AGBL1 was set to RED\nAdded comment: Gene disease association first reported in 2013 in PMID 24094747, in a large multigenerational family. However, note the variant reported, p.Arg1028Ter is present in over 400 hets in gnomad. Another variant reported in same paper, p.Cys990Ser in three unrelated individuals, is present in over 300 hets in gnomad and 1 hom.\r\n\r\nTwo further variants reported in PMID 31555324, one is missense, p.Arg748His, present in 60 hets, and the other, p.Arg1028Ter, is present is the variant identified in the previous publication, present in over 400 hets.\r\n\r\nThese variant frequencies are out of keeping for a rare disorder. \nSources: Expert Review",
"entity_name": "AGBL1",
"entity_type": "gene"
},
{
"created": "2020-11-27T08:58:33.058864+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TLE6 as ready",
"entity_name": "TLE6",
"entity_type": "gene"
},
{
"created": "2020-11-27T08:58:33.050574+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tle6 has been classified as Green List (High Evidence).",
"entity_name": "TLE6",
"entity_type": "gene"
},
{
"created": "2020-11-27T08:58:23.538399+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TLE6 as Green List (high evidence)",
"entity_name": "TLE6",
"entity_type": "gene"
},
{
"created": "2020-11-27T08:58:23.529875+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tle6 has been classified as Green List (High Evidence).",
"entity_name": "TLE6",
"entity_type": "gene"
},
{
"created": "2020-11-27T08:58:04.968382+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TLE6 was added\ngene: TLE6 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: TLE6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TLE6 were set to 26537248; 31897846\nPhenotypes for gene: TLE6 were set to Preimplantation embryonic lethality, MIM#\t616814\nReview for gene: TLE6 was set to GREEN\nAdded comment: At least 5 individuals reported with bi-allelic variants and early embryonic lethality. \nSources: Expert Review",
"entity_name": "TLE6",
"entity_type": "gene"
},
{
"created": "2020-11-26T13:38:06.187691+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OGT as ready",
"entity_name": "OGT",
"entity_type": "gene"
},
{
"created": "2020-11-26T13:38:06.177957+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ogt has been classified as Green List (High Evidence).",
"entity_name": "OGT",
"entity_type": "gene"
},
{
"created": "2020-11-26T13:36:26.879693+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OGT were changed from to Mental retardation, X-linked 106, MIM# 300997",
"entity_name": "OGT",
"entity_type": "gene"
},
{
"created": "2020-11-26T13:35:43.074671+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OGT were set to ",
"entity_name": "OGT",
"entity_type": "gene"
},
{
"created": "2020-11-26T13:34:42.699877+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OGT was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OGT",
"entity_type": "gene"
},
{
"created": "2020-11-26T13:34:10.536838+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OGT: Rating: GREEN; Mode of pathogenicity: None; Publications: 28302723, 28584052, 31296563, 31627256, 29769320, 29606577; Phenotypes: Mental retardation, X-linked 106, MIM# 300997; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OGT",
"entity_type": "gene"
},
{
"created": "2020-11-26T13:33:00.953126+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OGT as ready",
"entity_name": "OGT",
"entity_type": "gene"
},
{
"created": "2020-11-26T13:33:00.942700+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ogt has been classified as Green List (High Evidence).",
"entity_name": "OGT",
"entity_type": "gene"
},
{
"created": "2020-11-26T13:32:54.402064+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OGT were changed from to Mental retardation, X-linked 106, MIM# 300997",
"entity_name": "OGT",
"entity_type": "gene"
},
{
"created": "2020-11-26T13:32:32.362932+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OGT were set to ",
"entity_name": "OGT",
"entity_type": "gene"
},
{
"created": "2020-11-26T13:32:12.193148+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OGT was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OGT",
"entity_type": "gene"
},
{
"created": "2020-11-26T13:31:52.861425+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OGT: Rating: GREEN; Mode of pathogenicity: None; Publications: 28302723, 28584052, 31296563, 31627256, 29769320, 29606577; Phenotypes: Mental retardation, X-linked 106, MIM# 300997; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OGT",
"entity_type": "gene"
},
{
"created": "2020-11-26T13:31:09.680880+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OGT as ready",
"entity_name": "OGT",
"entity_type": "gene"
},
{
"created": "2020-11-26T13:31:09.664771+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ogt has been classified as Green List (High Evidence).",
"entity_name": "OGT",
"entity_type": "gene"
},
{
"created": "2020-11-26T13:31:05.691039+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OGT as Green List (high evidence)",
"entity_name": "OGT",
"entity_type": "gene"
},
{
"created": "2020-11-26T13:31:05.681678+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ogt has been classified as Green List (High Evidence).",
"entity_name": "OGT",
"entity_type": "gene"
},
{
"created": "2020-11-26T13:30:30.594889+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OGT was added\ngene: OGT was added to Congenital Disorders of Glycosylation. Sources: Expert Review\nMode of inheritance for gene: OGT was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: OGT were set to 28302723; 28584052; 31296563; 31627256; 29769320; 29606577\nPhenotypes for gene: OGT were set to Mental retardation, X-linked 106, MIM#\t300997\nReview for gene: OGT was set to GREEN\nAdded comment: OGT encodes O-GlcNAc transferase subunit p110. More than 5 unrelated families reported, presenting with ID, hypotonia, eye abnormalities, hearing impairment, behavioural problems, short stature, dysmorphism. Functional data supports gene-disease association. \nSources: Expert Review",
"entity_name": "OGT",
"entity_type": "gene"
},
{
"created": "2020-11-26T13:21:48.453126+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXTL3 as ready",
"entity_name": "EXTL3",
"entity_type": "gene"
},
{
"created": "2020-11-26T13:21:48.442702+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: extl3 has been classified as Green List (High Evidence).",
"entity_name": "EXTL3",
"entity_type": "gene"
},
{
"created": "2020-11-26T13:21:44.327880+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EXTL3 as Green List (high evidence)",
"entity_name": "EXTL3",
"entity_type": "gene"
},
{
"created": "2020-11-26T13:21:44.314079+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: extl3 has been classified as Green List (High Evidence).",
"entity_name": "EXTL3",
"entity_type": "gene"
},
{
"created": "2020-11-26T13:21:15.558173+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EXTL3 was added\ngene: EXTL3 was added to Congenital Disorders of Glycosylation. Sources: Expert Review\nMode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXTL3 were set to 28132690; 28148688; 28331220\nPhenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425\nReview for gene: EXTL3 was set to GREEN\nAdded comment: EXTL3 is a glycosyltransferase involved in the synthesis of heparin and heparan sulfate. 8 unrelated families reported with skeletal dysplasia +/- immune deficiency and neurodevelopmental abnormalities. \nSources: Expert Review",
"entity_name": "EXTL3",
"entity_type": "gene"
},
{
"created": "2020-11-26T13:19:47.282589+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXTL3 as ready",
"entity_name": "EXTL3",
"entity_type": "gene"
},
{
"created": "2020-11-26T13:19:47.273661+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: extl3 has been classified as Green List (High Evidence).",
"entity_name": "EXTL3",
"entity_type": "gene"
},
{
"created": "2020-11-26T13:19:39.987254+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EXTL3 were changed from to Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425",
"entity_name": "EXTL3",
"entity_type": "gene"
},
{
"created": "2020-11-26T13:19:16.611191+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EXTL3 were set to ",
"entity_name": "EXTL3",
"entity_type": "gene"
}
]
}