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{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1615",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1613",
"results": [
{
"created": "2020-09-02T19:57:03.877809+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSEN54 as ready",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:57:03.869526+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsen54 has been classified as Green List (High Evidence).",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:56:51.078562+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSEN54 were changed from to Pontocerebellar hypoplasia type 2A (MIM#277470) and type 4 (MIM#225753)",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:56:26.586346+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSEN54 were set to ",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:55:56.997231+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSEN54 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:53:42.626188+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBB2B as ready",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:53:42.617237+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubb2b has been classified as Green List (High Evidence).",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:53:39.847665+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBB2B were changed from to Cortical dysplasia, complex, with other brain malformations 7 MIM#610031",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:53:14.103498+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBB2B were set to ",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:52:50.815841+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBB2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:50:59.212408+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COASY as ready",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:50:59.201972+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coasy has been classified as Green List (High Evidence).",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:50:35.063614+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COASY as Green List (high evidence)",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:50:35.052292+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coasy has been classified as Green List (High Evidence).",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:49:37.612394+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS51 as ready",
"entity_name": "VPS51",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:49:37.604046+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps51 has been classified as Amber List (Moderate Evidence).",
"entity_name": "VPS51",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:49:32.878266+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VPS51 as Amber List (moderate evidence)",
"entity_name": "VPS51",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:49:32.867889+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps51 has been classified as Amber List (Moderate Evidence).",
"entity_name": "VPS51",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:47:34.843607+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.335",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: TSEN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23562994, 20952379, 27392077; Phenotypes: Pontocerebellar hypoplasia type 2B (MIM#612389); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:46:54.148774+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRIPT as ready",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:46:54.140099+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cript has been classified as Amber List (Moderate Evidence).",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:46:46.092528+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRIPT as Amber List (moderate evidence)",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:46:46.084072+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cript has been classified as Amber List (Moderate Evidence).",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:46:15.740621+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRIPT as ready",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:46:15.727357+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cript has been classified as Amber List (Moderate Evidence).",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:46:09.762434+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRIPT as Amber List (moderate evidence)",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:46:09.753580+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cript has been classified as Amber List (Moderate Evidence).",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:44:59.916182+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CREBBP as ready",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:44:59.907180+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crebbp has been classified as Green List (High Evidence).",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:44:55.852721+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CREBBP were changed from to Rubinstein-Taybi syndrome 1, MIM# 180849; Menke-Hennekam syndrome 1, MIM# 618332",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:43:20.024345+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CREBBP were set to ",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:42:45.887129+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CREBBP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:42:12.750090+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CREBBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 10699051, 17855048, 27311832, 29460469; Phenotypes: Rubinstein-Taybi syndrome 1, MIM# 180849, Menke-Hennekam syndrome 1, MIM# 618332; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:41:45.314705+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CREBBP were set to ",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:41:01.302635+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CREBBP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:40:41.783136+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CREBBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 10699051, 17855048, 27311832, 29460469; Phenotypes: Rubinstein-Taybi syndrome 1, MIM# 180849, Menke-Hennekam syndrome 1, MIM# 618332; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:36:24.035711+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CREBBP as ready",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:36:24.021024+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crebbp has been classified as Green List (High Evidence).",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:36:16.344562+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CREBBP as Green List (high evidence)",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:36:16.333952+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crebbp has been classified as Green List (High Evidence).",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:34:49.474992+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC5 were set to 32052936",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:33:49.817074+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC5 were set to 32052936; 32052936",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:32:29.466189+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC5 as ready",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:32:29.454435+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:31:22.484558+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ERCC5 as Amber List (moderate evidence)",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:31:22.475752+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:29:39.732202+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTC5 as ready",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:29:39.723306+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc5 has been classified as Green List (High Evidence).",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:29:28.172149+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TTC5 as Green List (high evidence)",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:29:28.163670+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc5 has been classified as Green List (High Evidence).",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:27:32.373650+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CKAP2L as ready",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:27:32.362765+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ckap2l has been classified as Green List (High Evidence).",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:27:27.141344+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CKAP2L as Green List (high evidence)",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:27:27.131858+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ckap2l has been classified as Green List (High Evidence).",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2020-09-02T19:18:57.741735+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.328",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: TSEN54: Rating: GREEN; Mode of pathogenicity: None; Publications: 20952379, 20301773; Phenotypes: Pontocerebellar hypoplasia type 2A (MIM#277470) and type 4 (MIM#225753); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2020-09-02T18:59:02.160233+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.328",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: TTC5 was added\ngene: TTC5 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: TTC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTC5 were set to 29302074; 32439809\nPhenotypes for gene: TTC5 were set to Intellectual disability; microcephaly\nReview for gene: TTC5 was set to GREEN\ngene: TTC5 was marked as current diagnostic\nAdded comment: PMID 29302074: 3 affected individuals from 2 consaguinous families described. All had head circumference < -3SD\r\n\r\nPMID 32439809: Report another 8 affected individuals from 5 families but only 3 individuals from 2 families were microcephalic (OFCs 31cm (unsure age), 32cm (12yo), 31cm (5yo)). \nSources: Literature",
"entity_name": "TTC5",
"entity_type": "gene"
},
{
"created": "2020-09-02T18:36:47.562684+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.328",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CTCF: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746550, 30893510, 28619046; Phenotypes: Mental retardation, autosomal dominant 21 (MIM#615502); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CTCF",
"entity_type": "gene"
},
{
"created": "2020-09-02T18:30:44.503946+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4125",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CRIPT was added\ngene: CRIPT was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CRIPT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CRIPT were set to 24389050; 27250922\nPhenotypes for gene: CRIPT were set to Short stature with microcephaly and distinctive facies\t(MIM#615789)\nPenetrance for gene: CRIPT were set to unknown\nReview for gene: CRIPT was set to AMBER\nAdded comment: PMID: 24389050\r\n- 2 unrelated probands homozygous for PTVs. However 1 was deceased and DNA was unavailable therefore parents were sequenced\r\n\r\nPMID: 27250922\r\n- 1x proband\r\n- het for a missense which was maternally inherited. Because the father was negative for SNVs, they did CMA and found a small heterozygous deletion 1.6kb in size encompassing exon 1 of CRIPT. This deletion was paternally inherited\r\n\r\n*did not find new reports since \nSources: Literature",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2020-09-02T18:23:19.001533+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.328",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CRIPT was added\ngene: CRIPT was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: CRIPT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CRIPT were set to 24389050; 27250922\nPhenotypes for gene: CRIPT were set to Short stature with microcephaly and distinctive facies\t(MIM#615789)\nPenetrance for gene: CRIPT were set to unknown\nReview for gene: CRIPT was set to AMBER\nAdded comment: PMID: 24389050\r\n- 2 unrelated probands homozygous for PTVs. However 1 was deceased and DNA was unavailable therefore parents were sequenced\r\n- OFCs -2.5 and -2.7SD\r\n\r\nPMID: 27250922\r\n- 1x proband with a head circumference of Z= -2.7.\r\n- het for a missense which was maternally inherited. Because the father was negative for SNVs, they did CMA and found a small heterozygous deletion 1.6kb in size encompassing exon 1 of CRIPT. This deletion was paternally inherited \r\n\r\n*did not find new reports since \nSources: Literature",
"entity_name": "CRIPT",
"entity_type": "gene"
},
{
"created": "2020-09-02T18:05:11.082485+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.328",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CREBBP was added\ngene: CREBBP was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CREBBP were set to 27311832; 29460469; 24989455\nPhenotypes for gene: CREBBP were set to Menke-Hennekam syndrome 1(MIM#618332); Rubinstein-Taybi syndrome 1(MIM#180849)\nPenetrance for gene: CREBBP were set to unknown\nReview for gene: CREBBP was set to GREEN\nAdded comment: Microcephaly is a feature of both syndromes (OMIM, GeneReviews) \r\n\r\nVariants causing Menke-Hennekam syndrome occur in 3' end of exon 30 and 5' end of exon 31 and are de novo missense versus Rubinstein-Taybi which are LoF variants.\r\n\r\n\r\nPMID: 27311832\r\n7 out of 11 Menke-Hennekam probands with microcephaly (<3rd centile)\r\n\r\nPMID: 29460469\r\n13 new Menke-Hennekam probands with 3 having OFCs of <-3 SD\r\n\r\nPMID: 24989455 provides growth charts of 92 molecularly diagnosed Rubinstein-Taybi patients. Mean of -1.89 SD for males and -2.71 SD for females \nSources: Literature",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2020-09-02T17:36:36.216823+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.328",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: COASY was added\ngene: COASY was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COASY were set to 30089828; 28489334\nPhenotypes for gene: COASY were set to Pontocerebellar hypoplasia, type 12, MIM#618266\nReview for gene: COASY was set to GREEN\nAdded comment: 6 patients from 3 families published with microcephaly. One paper (2018, 30089828) describes two families, one consanguineous with hom splice region variant c.1486-3 C>G, the other family with a compound heterozygous c.[1549_1550delAG]; [1486-3 C>G] genotype. An earlier paper (2017, 28489334) describes an additional family with two affected siblings compound het c.1495C > T; p.(R499C) and c.C641T; p(A214V) variants. \nSources: Literature",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2020-09-02T17:26:47.449358+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.327",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CLTC: Rating: AMBER; Mode of pathogenicity: None; Publications: 31776469; Phenotypes: Mental retardation, autosomal dominant 56 (MIM#617854); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CLTC",
"entity_type": "gene"
},
{
"created": "2020-09-02T17:19:32.064801+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.327",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: ERCC5 was added\ngene: ERCC5 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC5 were set to 32052936; 32052936\nPhenotypes for gene: ERCC5 were set to Cerebrooculofacioskeletal syndrome 3 MIM#616570\nReview for gene: ERCC5 was set to AMBER\ngene: ERCC5 was marked as current diagnostic\nAdded comment: PMID 9096355 identified a homozygous LoF variant in a boy with microcephaly but this publication was later retracted over data in Figure 6.\r\n\r\nPMID 24700531 describes 4 fetuses from a large consanguineous Pakistani kindred with a homozygous LoF variant. All were said to be microcephalic with no measurements given.\r\n\r\nPMID 32052936 describes another 3 microcephalic fetuses from 2 families with homozygous LoF variants, again no measurements given.\r\n\r\n3 families described in total but head circumference measurements of affected fetuses not provided so rated Amber. \nSources: Literature",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2020-09-02T17:12:10.431433+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "0.383",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 24781755, 27707755, 27808407, 28003573, 28815995; Phenotypes: Deafness, autosomal dominant 1, with or without thrombocytopenia 124900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2020-09-02T17:05:20.873280+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.327",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: ERCC8 as ready",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2020-09-02T17:05:20.862316+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.327",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ercc8 has been classified as Green List (High Evidence).",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2020-09-02T17:05:12.977475+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.327",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: ERCC8 as Green List (high evidence)",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2020-09-02T17:05:12.968691+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.327",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ercc8 has been classified as Green List (High Evidence).",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2020-09-02T17:04:16.135036+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.326",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: DIAPH1 as ready",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2020-09-02T17:04:16.124874+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.326",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: diaph1 has been classified as Green List (High Evidence).",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2020-09-02T17:03:48.291423+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.326",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: DIAPH1 as Green List (high evidence)",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2020-09-02T17:03:48.280999+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.326",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: diaph1 has been classified as Green List (High Evidence).",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2020-09-02T17:02:18.296354+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.325",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: ERCC8 was added\ngene: ERCC8 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC8 were set to 14661080; 21108394\nPhenotypes for gene: ERCC8 were set to Cockayne syndrome, type A, MIM# 216400\nReview for gene: ERCC8 was set to GREEN\ngene: ERCC8 was marked as current diagnostic\nAdded comment: Well established gene-disease association, with microcephaly a reported feature.\r\n(https://www.ncbi.nlm.nih.gov/books/NBK1342/) \nSources: Literature",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:59:05.330521+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.325",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "gene: DIAPH1 was added\ngene: DIAPH1 was added to Microcephaly. Sources: Expert Review\nMode of inheritance for gene: DIAPH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DIAPH1 were set to PMID: 24781755; 26463574\nPhenotypes for gene: DIAPH1 were set to Seizures, cortical blindness, microcephaly syndrome 616632\nReview for gene: DIAPH1 was set to GREEN\nAdded comment: PMID: 24781755 (2015) - five individuals from a consanguineous family with severe microcephaly >2SD below the mean for age with homozygous nonsense variant in DIAPH1\r\n\r\nPMID: 26463574 (2016) - two different homozygous LOF variants identified in two unrelated consanguineous families. The affected individuals were diagnosed with postnatal microcephaly (>2SD), early-onset epilepsy, severe vision impairment, and pulmonary symptoms including bronchiectasis and recurrent respiratory infections. \nSources: Expert Review",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:59:03.017211+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.325",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: ERCC6 as ready",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:59:03.001834+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.325",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ercc6 has been classified as Green List (High Evidence).",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:58:55.946783+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.325",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: ERCC6 as Green List (high evidence)",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:58:55.936200+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.325",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ercc6 has been classified as Green List (High Evidence).",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:57:38.088221+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.324",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: ERCC4 as ready",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:57:38.080055+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.324",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ercc4 has been classified as Green List (High Evidence).",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:56:13.904547+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.324",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: ERCC6 was added\ngene: ERCC6 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC6 were set to PMID: 20301516\nPhenotypes for gene: ERCC6 were set to Cockayne syndrome, type B, MIM#133540; Cerebrooculofacioskeletal syndrome 1, MIM#214150; De Sanctis-Cacchione syndrome, MIM#278800\nPenetrance for gene: ERCC6 were set to Complete\nReview for gene: ERCC6 was set to GREEN\nAdded comment: Well established gene-disease association, with microcephaly a reported feature. \nSources: Literature",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:55:21.382981+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CKAP2L as Green List (high evidence)",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:55:21.360492+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ckap2l has been classified as Green List (High Evidence).",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:55:16.353718+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCF as ready",
"entity_name": "FANCF",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:55:16.345458+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancf has been classified as Green List (High Evidence).",
"entity_name": "FANCF",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:55:03.683037+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.324",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: ERCC4 as Green List (high evidence)",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:55:03.671576+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.324",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ercc4 has been classified as Green List (High Evidence).",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:54:15.994030+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRIP1 as ready",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:54:15.983010+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brip1 has been classified as Green List (High Evidence).",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:54:07.398819+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.323",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: FANCD2 as ready",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:54:07.381705+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.323",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: fancd2 has been classified as Green List (High Evidence).",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:53:59.829681+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.323",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: FANCD2 as Green List (high evidence)",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:53:59.819453+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.323",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: fancd2 has been classified as Green List (High Evidence).",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:53:40.773340+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BRIP1 were set to ",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:53:02.645156+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BRIP1 as Green List (high evidence)",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:53:02.633129+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brip1 has been classified as Green List (High Evidence).",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:52:43.787762+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.321",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "gene: FANCD2 was added\ngene: FANCD2 was added to Microcephaly. Sources: Expert Review\nMode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FANCD2 were set to PMID:20301575\nPhenotypes for gene: FANCD2 were set to Fanconi anemia 227646\nReview for gene: FANCD2 was set to GREEN\nAdded comment: Well established gene-disease association, microcephaly is a key feature. \nSources: Expert Review",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:52:42.372990+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.321",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: FANCG as ready",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:52:42.362198+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.321",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: fancg has been classified as Green List (High Evidence).",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2020-09-02T16:52:33.764192+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.321",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: FANCG as Green List (high evidence)",
"entity_name": "FANCG",
"entity_type": "gene"
}
]
}