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{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1617",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1615",
"results": [
{
"created": "2020-09-02T16:22:55.715617+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdkl5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:22:55.035106+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CENPF as Green List (high evidence)",
"entity_name": "CENPF",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:22:55.022952+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.297",
"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": "2020-09-02T16:22:41.223513+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4121",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: CENPE as ready",
"entity_name": "CENPE",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:22:41.215339+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4121",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: cenpe has been classified as Red List (Low Evidence).",
"entity_name": "CENPE",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:22:27.049838+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4121",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: CENPE were changed from to Microcephaly 13, primary, autosomal recessive (MIM#616051)",
"entity_name": "CENPE",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:22:11.712000+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDKL5 were changed from to Epileptic encephalopathy, early infantile, 2 (MIM#300672)",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:21:48.873453+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4120",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: CENPE were set to ",
"entity_name": "CENPE",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:21:45.271710+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: UFM1.",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:21:37.142247+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UFM1 as ready",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:21:37.138194+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Green rating in view of the marked microcephaly, and large number of individuals reported with the founder variant. Rating is borderline but consistent across panels.",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:21:37.109976+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ufm1 has been classified as Green List (High Evidence).",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:20:57.148520+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4119",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: CENPE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CENPE",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:20:35.589779+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.295",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: CENPE as ready",
"entity_name": "CENPE",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:20:35.580310+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.295",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: cenpe has been classified as Red List (Low Evidence).",
"entity_name": "CENPE",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:20:28.877772+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4118",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: CENPE as Red List (low evidence)",
"entity_name": "CENPE",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:20:28.867231+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4118",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: cenpe has been classified as Red List (Low Evidence).",
"entity_name": "CENPE",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:20:28.465612+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UFM1 as Green List (high evidence)",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:20:28.456655+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ufm1 has been classified as Green List (High Evidence).",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:20:13.867081+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.295",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: CENPE were changed from to Microcephaly 13, primary, autosomal recessive (MIM#616051)",
"entity_name": "CENPE",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:19:48.373273+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4117",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CENPE: Rating: RED; Mode of pathogenicity: None; Publications: 24748105, 30086807; Phenotypes: Microcephaly 13, primary, autosomal recessive (MIM#616051); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CENPE",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:19:31.917145+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.294",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: CENPE were set to ",
"entity_name": "CENPE",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:19:05.605291+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.293",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: CENPE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CENPE",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:18:42.344730+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.292",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: CENPE as Red List (low evidence)",
"entity_name": "CENPE",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:18:42.334590+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.292",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: cenpe has been classified as Red List (Low Evidence).",
"entity_name": "CENPE",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:17:05.605898+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4117",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: CDC6 as ready",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:17:05.597432+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4117",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: cdc6 has been classified as Red List (Low Evidence).",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:17:01.712051+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.291",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CKAP2L was added\ngene: CKAP2L was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: CKAP2L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CKAP2L were set to 29473684; 25439729\nPhenotypes for gene: CKAP2L were set to Filippi syndrome\t(MIM#272440)\nPenetrance for gene: CKAP2L were set to unknown\nReview for gene: CKAP2L was set to GREEN\nAdded comment: PMID: 29473684 \r\n- 1x proband with head circumference -3SD\r\n\r\nPMID: 25439729\r\n- 11 patients, 7 have OFCs <= -3SD \nSources: Literature",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:16:47.193481+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.291",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: TUBB2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 19465910, 22333901; Phenotypes: Cortical dysplasia, complex, with other brain malformations 7 MIM#610031; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:16:45.501880+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4117",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: CDC6 were changed from to Meier-Gorlin syndrome 5 (MIM#613805)",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:16:38.000363+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDKL5 were set to ",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:16:28.472463+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2925",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: CDC6 as ready",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:16:28.463687+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2925",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: cdc6 has been classified as Red List (Low Evidence).",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:16:22.861181+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2925",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: CDC6 were changed from to Meier-Gorlin syndrome 5 (MIM#613805)",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:16:17.820639+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDKL5 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:16:13.530758+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4116",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: CDC6 were set to ",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:15:56.099623+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDKL5 as Amber List (moderate evidence)",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:15:56.090696+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdkl5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:15:35.614191+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4115",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:15:35.598547+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2924",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: CDC6 were set to ",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:15:18.270734+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4114",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24781755, 26463574, 24781755, 27808407, 28003573, 28815995; Phenotypes: Deafness, thrombocytopenia, Seizures, cortical blindness, microcephaly; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:15:14.885098+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4114",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: CDC6 as Red List (low evidence)",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:15:14.875363+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4114",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: cdc6 has been classified as Red List (Low Evidence).",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:15:09.294916+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2923",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:14:25.458812+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2922",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: CDC6 as Red List (low evidence)",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:14:25.448650+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2922",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: cdc6 has been classified as Red List (Low Evidence).",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:14:09.093592+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.288",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: CDK13 as ready",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:14:09.084335+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.288",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: cdk13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:13:30.284348+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.288",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: CDK13 were changed from to Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (MIM#617360)",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:13:08.488735+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UNC80 as ready",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:13:08.478358+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc80 has been classified as Green List (High Evidence).",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:13:05.165662+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.287",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: CDK13 were set to ",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:12:51.577204+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UNC80 were changed from to Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 MIM#616801",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:12:28.205622+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.286",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDK13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:12:10.779923+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UNC80 were set to ",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:11:41.623465+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UNC80 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:11:28.479785+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4113",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CDC6: Rating: RED; Mode of pathogenicity: None; Publications: 21358632; Phenotypes: Meier-Gorlin syndrome 5 (MIM#613805); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:11:11.404098+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.284",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: CDK13 as Amber List (moderate evidence)",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:11:11.394850+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.284",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: cdk13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:10:45.385416+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2921",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CDC6: Rating: RED; Mode of pathogenicity: None; Publications: 21358632; Phenotypes: Meier-Gorlin syndrome 5 (MIM#613805); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:10:31.238674+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDX11 as ready",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:10:31.228243+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx11 has been classified as Green List (High Evidence).",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:10:23.217924+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DDX11 as Green List (high evidence)",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:10:23.207973+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx11 has been classified as Green List (High Evidence).",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:09:57.307759+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.282",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: TUBGCP4 was added\ngene: TUBGCP4 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: TUBGCP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TUBGCP4 were set to 25817018\nPhenotypes for gene: TUBGCP4 were set to Microcephaly and chorioretinopathy, autosomal recessive, MIM#616335\nReview for gene: TUBGCP4 was set to GREEN\ngene: TUBGCP4 was marked as current diagnostic\nAdded comment: 4 patients from 3 families with biallelic variants reported, all with microcephaly < -3SD. All had a synonymous splice variant on one allele. \nSources: Literature",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:09:08.946254+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: USP18 as ready",
"entity_name": "USP18",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:09:08.934934+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usp18 has been classified as Red List (Low Evidence).",
"entity_name": "USP18",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:09:06.137134+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: USP18 were changed from to Pseudo-TORCH syndrome 2 MIM#617397",
"entity_name": "USP18",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:08:43.557863+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: USP18 were set to ",
"entity_name": "USP18",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:08:35.621786+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.280",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: CDC6 as ready",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:08:35.612780+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.280",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: cdc6 has been classified as Red List (Low Evidence).",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:08:15.982789+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.280",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: CDC6 as Red List (low evidence)",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:08:15.970220+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.280",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: cdc6 has been classified as Red List (Low Evidence).",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:07:57.760965+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: USP18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "USP18",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:07:35.646132+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.279",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: CDC6 as Red List (low evidence)",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:07:35.635794+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.279",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: cdc6 has been classified as Red List (Low Evidence).",
"entity_name": "CDC6",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:07:17.314440+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: USP18 as Red List (low evidence)",
"entity_name": "USP18",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:07:17.291923+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usp18 has been classified as Red List (Low Evidence).",
"entity_name": "USP18",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:05:42.120525+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC88A as Green List (high evidence)",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:05:42.112413+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc88a has been classified as Green List (High Evidence).",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:05:26.628429+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.277",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: CCDC88A: Changed rating: GREEN; Changed phenotypes: PEHO syndrome-like (MIM#617507)",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:05:04.837476+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.277",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: BUB1B as ready",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:05:04.824885+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.277",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: bub1b has been classified as Green List (High Evidence).",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:05:00.665611+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.277",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: BUB1B were changed from to Mosaic variegated aneuploidy syndrome 1 (MIM#257300)",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:04:39.550805+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC88A as ready",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:04:39.535765+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc88a has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:04:35.106469+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.276",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: BUB1B were set to ",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:04:21.278670+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC88A as Amber List (moderate evidence)",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:04:21.259317+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc88a has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:03:58.758365+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.275",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: BUB1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:03:10.495181+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHCR7 as ready",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:03:10.481802+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhcr7 has been classified as Green List (High Evidence).",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:03:05.897170+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHCR7 as Green List (high evidence)",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:03:05.885764+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhcr7 has been classified as Green List (High Evidence).",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:01:17.923534+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.273",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: UBA5 was added\ngene: UBA5 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UBA5 were set to 27545674; 27545681\nPhenotypes for gene: UBA5 were set to Epileptic encephalopathy, early infantile, 44 (MIM#617132)\nReview for gene: UBA5 was set to GREEN\ngene: UBA5 was marked as current diagnostic\nAdded comment: PMID 27545674: 8 patients from 5 unrelated families with biallelic variants reported. All had the same missense variant on one allele (517hets in gnomAD), which they referred to as a hypomorphic allele. 7 of the 8 were microcephalic (they used < -3SD as diagnostic criteria).\r\n\r\nPMID 27545681: 5 patients from 4 families with biallelic variants reported. Head circumferences were cited as: -3.5SD, -2SD, 4th centile, -2.5SD, -2.4SD. \nSources: Literature",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2020-09-02T15:59:25.111711+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.273",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "changed review comment from: 80%-84% of individuals have Microcephaly\t(https://www.ncbi.nlm.nih.gov/books/NBK1143/)\r\n\r\nMore than 200 mutations that cause Smith-Lemli-Opitz syndrome have been identified in the DHCR7 gene. (https://databases.lovd.nl/shared/genes/DHCR7) \nSources: Literature; to: 80%-84% of individuals have Microcephaly\t(https://www.ncbi.nlm.nih.gov/books/NBK1143/, ClinVar)\r\n\r\nMore than 200 mutations that cause Smith-Lemli-Opitz syndrome have been identified in the DHCR7 gene. (https://databases.lovd.nl/shared/genes/DHCR7) \r\nSources: Literature",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-09-02T14:59:27.400514+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.273",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "changed review comment from: Most individuals reported with variants in DNM1L do not have microcephaly listed as a phenotype.\r\n\r\nPMID: 17460227 - Reports a newborn girl with microcephaly (head circumference below the 0.4 percentile), abnormal brain development, optic atrophy and hypoplasia, persistent lactic acidemia, and a mildly elevated plasma concentration of very-long-chain fatty acids. She died suddenly at the age of 37 days. A monoallelic missense variant was identified.\r\n\r\nPMID: 26992161 - A monoallelic missense variant reported in a 2 year old boy with a chronic neurological disorder, characterized by postnatal microcephaly (OFC 45.5 cm (<3rd centile)), developmental delay, and pain insensitivity.\r\n\r\nPMID: 30801875 - Five patients presenting with severe epileptic encephalopathy; microcephaly (<3rd percentile) reported in one patient. Five de novo dominant DNM1L variants were identified.\r\nLoss-of-function and dominant negative; to: Most individuals reported with variants in DNM1L do not have microcephaly listed as a phenotype.\r\n\r\nPMID: 17460227 - Reports a newborn girl with microcephaly (head circumference below the 0.4 percentile), abnormal brain development, optic atrophy and hypoplasia, persistent lactic acidemia, and a mildly elevated plasma concentration of very-long-chain fatty acids. She died suddenly at the age of 37 days. A monoallelic missense variant was identified.\r\n\r\nPMID: 26992161 - A monoallelic missense variant reported in a 2 year old boy with a chronic neurological disorder, characterized by postnatal microcephaly (OFC 45.5 cm (<3rd centile)), developmental delay, and pain insensitivity.\r\n\r\nPMID: 30801875 - Five patients presenting with severe epileptic encephalopathy; microcephaly (<3rd percentile) reported in one patient. Five de novo dominant DNM1L variants were identified.\r\n\r\nBoth loss-of-function (variants within the GTPase domain) and dominant negative (variants within the middle domain) mechanisms have been reported. ",
"entity_name": "DNM1L",
"entity_type": "gene"
},
{
"created": "2020-09-02T14:58:03.794098+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.273",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: DNM1L: Rating: AMBER; Mode of pathogenicity: Other; Publications: PMID: 17460227, 26992161, 30801875; Phenotypes: Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MIM#614388; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DNM1L",
"entity_type": "gene"
},
{
"created": "2020-09-02T14:40:25.396722+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.273",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CIT was added\ngene: CIT was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: CIT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CIT were set to 27453578; 27503289; 27453579\nPhenotypes for gene: CIT were set to Microcephaly 17, primary, autosomal recessive\t(MIM#617090)\nPenetrance for gene: CIT were set to unknown\nReview for gene: CIT was set to GREEN\nAdded comment: PMID: 27453578 \r\n- 3 consanguineous families with 7 affecteds and head circumferences ranging from -5.6 SD to -8.4 SD\r\n\r\nPMID: 27503289\r\n- 2 consanguineous families with 2 affecteds and OFCs of -9 and -10 SDs\r\n\r\nPMID: 27453579\r\n- 3 families (2 consanguineous) with 6 affecteds\r\n- only 3 had OFCs records:: birth and last examined ranged from -3.5 to -12 SDs\r\n\r\n*mix of missense and PTVs \nSources: Literature",
"entity_name": "CIT",
"entity_type": "gene"
},
{
"created": "2020-09-02T14:25:50.508257+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.273",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CHD4: Rating: AMBER; Mode of pathogenicity: None; Publications: 31388190; Phenotypes: Sifrim-Hitz-Weiss syndrome (MIM#617159); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CHD4",
"entity_type": "gene"
}
]
}