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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1267",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1265",
"results": [
{
"created": "2021-07-19T09:21:57.217275+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLG2 as ready",
"entity_name": "POLG2",
"entity_type": "gene"
},
{
"created": "2021-07-19T09:21:57.203107+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polg2 has been classified as Green List (High Evidence).",
"entity_name": "POLG2",
"entity_type": "gene"
},
{
"created": "2021-07-19T09:21:49.660347+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLG2 were changed from to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131; Mitochondrial DNA depletion syndrome 16 , MIM# 618528",
"entity_name": "POLG2",
"entity_type": "gene"
},
{
"created": "2021-07-19T09:21:22.605867+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLG2 were set to ",
"entity_name": "POLG2",
"entity_type": "gene"
},
{
"created": "2021-07-19T09:21:01.925525+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POLG2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POLG2",
"entity_type": "gene"
},
{
"created": "2021-07-19T09:20:48.898102+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLG2 were changed from to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131; Mitochondrial DNA depletion syndrome 16 , MIM# 618528",
"entity_name": "POLG2",
"entity_type": "gene"
},
{
"created": "2021-07-19T09:20:37.462603+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POLG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16685652, 21555342, 27592148, 31778857; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131, Mitochondrial DNA depletion syndrome 16 , MIM# 618528; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POLG2",
"entity_type": "gene"
},
{
"created": "2021-07-19T09:20:18.447786+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLG2 were set to ",
"entity_name": "POLG2",
"entity_type": "gene"
},
{
"created": "2021-07-19T09:19:24.510963+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POLG2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POLG2",
"entity_type": "gene"
},
{
"created": "2021-07-19T09:18:49.129816+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POLG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16685652, 21555342, 27592148, 31778857; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131, Mitochondrial DNA depletion syndrome 16 , MIM# 618528; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POLG2",
"entity_type": "gene"
},
{
"created": "2021-07-18T20:00:41.518036+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCDHGC4 as ready",
"entity_name": "PCDHGC4",
"entity_type": "gene"
},
{
"created": "2021-07-18T20:00:41.507572+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcdhgc4 has been classified as Green List (High Evidence).",
"entity_name": "PCDHGC4",
"entity_type": "gene"
},
{
"created": "2021-07-18T19:58:17.460131+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCDHGC4 as Green List (high evidence)",
"entity_name": "PCDHGC4",
"entity_type": "gene"
},
{
"created": "2021-07-18T19:58:17.450656+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcdhgc4 has been classified as Green List (High Evidence).",
"entity_name": "PCDHGC4",
"entity_type": "gene"
},
{
"created": "2021-07-18T19:57:46.177103+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCDHGC4 was added\ngene: PCDHGC4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PCDHGC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCDHGC4 were set to 34244665\nPhenotypes for gene: PCDHGC4 were set to Intellectual disability; Seizures\nReview for gene: PCDHGC4 was set to GREEN\nAdded comment: Eight variants reported in 19 members of nine unreleted families with a neurodevelopmental syndrome. Severe or moderate intellectual disabilty in eight families and seizures in four families. Four of the variants were LoF, in silico analysis of the remaining missense (n=3) and splice variants were predicted to be pathogenic. \nSources: Literature",
"entity_name": "PCDHGC4",
"entity_type": "gene"
},
{
"created": "2021-07-18T19:57:42.454563+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCDHGC4 as Green List (high evidence)",
"entity_name": "PCDHGC4",
"entity_type": "gene"
},
{
"created": "2021-07-18T19:57:42.443170+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcdhgc4 has been classified as Green List (High Evidence).",
"entity_name": "PCDHGC4",
"entity_type": "gene"
},
{
"created": "2021-07-18T19:57:21.837882+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCDHGC4 as Green List (high evidence)",
"entity_name": "PCDHGC4",
"entity_type": "gene"
},
{
"created": "2021-07-18T19:57:21.827074+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcdhgc4 has been classified as Green List (High Evidence).",
"entity_name": "PCDHGC4",
"entity_type": "gene"
},
{
"created": "2021-07-18T19:57:19.584719+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCDHGC4 as ready",
"entity_name": "PCDHGC4",
"entity_type": "gene"
},
{
"created": "2021-07-18T19:57:19.574362+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcdhgc4 has been classified as Red List (Low Evidence).",
"entity_name": "PCDHGC4",
"entity_type": "gene"
},
{
"created": "2021-07-18T19:56:00.266193+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCDHGC4 was added\ngene: PCDHGC4 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PCDHGC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCDHGC4 were set to 34244665\nPhenotypes for gene: PCDHGC4 were set to Intellectual disability; Seizures\nReview for gene: PCDHGC4 was set to GREEN\nAdded comment: Eight variants reported in 19 members of nine unreleted families with a neurodevelopmental syndrome. Severe or moderate intellectual disabilty in eight families and seizures in four families. Four of the variants were LoF, in silico analysis of the remaining missense (n=3) and splice variants were predicted to be pathogenic. \nSources: Literature",
"entity_name": "PCDHGC4",
"entity_type": "gene"
},
{
"created": "2021-07-18T19:55:34.349903+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCDHGC4 as ready",
"entity_name": "PCDHGC4",
"entity_type": "gene"
},
{
"created": "2021-07-18T19:55:34.340487+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcdhgc4 has been classified as Green List (High Evidence).",
"entity_name": "PCDHGC4",
"entity_type": "gene"
},
{
"created": "2021-07-18T19:54:45.755229+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCDHGC4 as Green List (high evidence)",
"entity_name": "PCDHGC4",
"entity_type": "gene"
},
{
"created": "2021-07-18T19:54:45.740601+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcdhgc4 has been classified as Green List (High Evidence).",
"entity_name": "PCDHGC4",
"entity_type": "gene"
},
{
"created": "2021-07-18T19:54:11.841624+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCDHGC4 was added\ngene: PCDHGC4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PCDHGC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCDHGC4 were set to 34244665\nPhenotypes for gene: PCDHGC4 were set to Intellectual disability; Seizures\nReview for gene: PCDHGC4 was set to GREEN\nAdded comment: Eight variants reported in 19 members of nine unreleted families with a neurodevelopmental syndrome. Severe or moderate intellectual disabilty in eight families and seizures in four families. Four of the variants were LoF, in silico analysis of the remaining missense (n=3) and splice variants were predicted to be pathogenic. \nSources: Literature",
"entity_name": "PCDHGC4",
"entity_type": "gene"
},
{
"created": "2021-07-18T19:51:18.815655+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6V0A4 as ready",
"entity_name": "ATP6V0A4",
"entity_type": "gene"
},
{
"created": "2021-07-18T19:51:18.805025+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v0a4 has been classified as Green List (High Evidence).",
"entity_name": "ATP6V0A4",
"entity_type": "gene"
},
{
"created": "2021-07-18T19:51:01.577575+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP6V0A4 were changed from to Renal tubular acidosis, distal, autosomal recessive, MIM#602722",
"entity_name": "ATP6V0A4",
"entity_type": "gene"
},
{
"created": "2021-07-18T19:50:38.759421+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP6V0A4 were set to ",
"entity_name": "ATP6V0A4",
"entity_type": "gene"
},
{
"created": "2021-07-18T19:50:19.863398+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8385",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP6V0A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP6V0A4",
"entity_type": "gene"
},
{
"created": "2021-07-18T19:49:58.356599+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP6V0A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12414817, 10973252; Phenotypes: Renal tubular acidosis, distal, autosomal recessive, MIM#602722; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP6V0A4",
"entity_type": "gene"
},
{
"created": "2021-07-18T19:48:44.197483+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP85L as ready",
"entity_name": "CEP85L",
"entity_type": "gene"
},
{
"created": "2021-07-18T19:48:44.187982+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep85l has been classified as Green List (High Evidence).",
"entity_name": "CEP85L",
"entity_type": "gene"
},
{
"created": "2021-07-18T19:47:09.890449+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP85L as Green List (high evidence)",
"entity_name": "CEP85L",
"entity_type": "gene"
},
{
"created": "2021-07-18T19:47:09.880364+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep85l has been classified as Green List (High Evidence).",
"entity_name": "CEP85L",
"entity_type": "gene"
},
{
"created": "2021-07-18T19:45:46.691847+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP85L was added\ngene: CEP85L was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review\nMode of inheritance for gene: CEP85L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CEP85L were set to 32097630\nPhenotypes for gene: CEP85L were set to Lissencephaly, posterior predominant\nReview for gene: CEP85L was set to GREEN\nAdded comment: Thirteen individuals reported with mono allelic variants in this gene, inherited in two of the families. Mouse model had neuronal migration defects. \nSources: Expert Review",
"entity_name": "CEP85L",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:57:16.807879+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ICK as ready",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:57:16.797038+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ick has been classified as Green List (High Evidence).",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:57:07.712480+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ICK were changed from to Endocrine-cerebroosteodysplasia (MIM#612651)",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:56:48.792319+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8383",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ICK were set to ",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:56:29.916374+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ICK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:55:37.412230+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNF1B as ready",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:55:37.401960+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnf1b has been classified as Green List (High Evidence).",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:55:16.351016+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: HNF1B.",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:55:02.781017+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNF1B were changed from to Renal cysts and diabetes syndrome, MIM# 137920",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:54:45.539260+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HNF1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:54:29.170156+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Included due to phenotypic overlap with nephronophthisis.; to: Well established gene-disease association, CNVs common.",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:29:48.862012+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GDF1 as ready",
"entity_name": "GDF1",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:29:48.851625+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gdf1 has been classified as Green List (High Evidence).",
"entity_name": "GDF1",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:29:38.390835+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GDF1 were changed from to Congenital heart defects, multiple types, 6 613854; Right atrial isomerism (Ivemark) 208530",
"entity_name": "GDF1",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:29:20.848422+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GDF1 were set to ",
"entity_name": "GDF1",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:29:07.676824+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GDF1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "GDF1",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:28:40.501209+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GDF1: Added comment: PMID: 32144877 - founder PTC in Arab population causing congenital heart detects AND right isomerism in 3 (unrelated?) families. Reviews other publications and reports additional chet (two PTC) or homozygous (missense) families with situs inversus and/or heart defects. No apparent genotype-phenotype correlation btw dominant and recessive disease.; Changed rating: GREEN; Changed publications: 32144877; Changed phenotypes: Congenital heart defects, multiple types, 6 613854, Right atrial isomerism (Ivemark) 208530; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GDF1",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:27:39.936001+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EVC2 as ready",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:27:39.926842+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: evc2 has been classified as Green List (High Evidence).",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:27:31.925772+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8376",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EVC2 were changed from to Ellis-van Creveld syndrome (MIM#225500)",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:27:16.234341+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EVC2 were set to ",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:27:02.392955+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EVC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:26:26.106522+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EVC as ready",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:26:26.095928+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: evc has been classified as Green List (High Evidence).",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:26:18.900393+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EVC were changed from to Ellis-van Creveld syndrome, MIM# 225500",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:26:02.139462+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EVC were set to ",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:25:48.599954+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EVC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:23:31.463759+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCDC2 as ready",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:23:31.453415+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dcdc2 has been classified as Green List (High Evidence).",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:23:23.629623+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DCDC2 were changed from to Nephronophthisis 19, MIM# 616217; Sclerosing cholangitis, neonatal, MIM# 617394",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:23:09.051435+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DCDC2 were set to ",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:22:42.441017+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DCDC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:22:22.246202+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Only a single case with nephronophthisis, most reports are for cholangitis, though zebrafish model has renal cysts.; to: At least 5 families reported with cholangitis, and two with nephronophthisis, though zebrafish model has renal cysts.",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:19:13.000777+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DCDC2: Changed rating: GREEN; Changed publications: 25557784, 27319779, 27469900; Changed phenotypes: Nephronophthisis 19, MIM# 616217, Sclerosing cholangitis, neonatal, MIM# 617394; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DCDC2",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:16:40.444616+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRELD1 as ready",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:16:40.434552+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: creld1 has been classified as Green List (High Evidence).",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:16:32.372062+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRELD1 were changed from to Atrioventricular septal defect, partial, with heterotaxy syndrome, MIM# 606217",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:16:11.528851+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRELD1 were set to ",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:15:53.680812+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRELD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:15:25.667804+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRELD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22740159; Phenotypes: Atrioventricular septal defect, partial, with heterotaxy syndrome, MIM# 606217; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:14:08.572736+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRB2 as ready",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:14:08.562365+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crb2 has been classified as Green List (High Evidence).",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:12:35.346934+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRB2 were changed from to Ventriculomegaly with cystic kidney disease, MIM# 219730; Focal segmental glomerulosclerosis 9, MIM# 616220",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:12:15.574490+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRB2 were set to ",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:11:50.600531+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:11:34.880036+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 7 unrelated families reported, mouse model. Some have presented predominantly with proteinuria, and some more with a multi-system ciliopathy phenotype, and yet others with RP.; to: VM with renal disease: More than 7 unrelated families reported, mouse model. Some have presented predominantly with proteinuria, and some more with a multi-system ciliopathy phenotype, and yet others with RP.\r\n\r\nFSGS: at least 4 families and animal model.",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:11:02.805794+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CRB2: Changed publications: 25557780, 33687977, 32051522, 30212996, 33575434, 31438467, 30593785, 25557779; Changed phenotypes: Ventriculomegaly with cystic kidney disease, MIM# 219730, Focal segmental glomerulosclerosis 9, MIM# 616220",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:09:31.310580+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP55 as ready",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:09:31.301240+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep55 has been classified as Green List (High Evidence).",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:09:22.860040+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP55 were changed from to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM# 236500",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:09:03.911984+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP55 were set to ",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:08:45.704586+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP55 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2021-07-18T18:08:26.492825+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP55: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM# 236500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2021-07-18T17:00:02.096608+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CENPF as ready",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2021-07-18T17:00:02.084735+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cenpf has been classified as Green List (High Evidence).",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:59:50.859107+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CENPF were changed from to Stromme syndrome (MIM#243605)",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:59:30.125919+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CENPF were set to ",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:59:10.338991+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CENPF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:58:02.095766+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C8orf37 as ready",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:58:02.080861+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c8orf37 has been classified as Green List (High Evidence).",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:57:54.560363+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C8orf37 were changed from to Bardet-Biedl syndrome 21, MIM#617406; Retinitis pigmentosa 64, MIM#614500",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2021-07-18T16:57:38.872558+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C8orf37 were set to ",
"entity_name": "C8orf37",
"entity_type": "gene"
}
]
}