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{
"count": 220966,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1624",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1622",
"results": [
{
"created": "2020-08-31T16:59:44.622354+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brca2 has been classified as Green List (High Evidence).",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:58:19.989893+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.210",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: BRCA2 was added\ngene: BRCA2 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BRCA2 were set to Fanconi anemia, complementation group D1\t(MIM#605724)\nPenetrance for gene: BRCA2 were set to unknown\nReview for gene: BRCA2 was set to GREEN\nAdded comment: Approx 75% of FA patients present with microcephaly and approx 3% of FA patients have variants in BRCA2 (GeneReviews) \nSources: Literature",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:57:41.996735+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATRIP as ready",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:57:41.986871+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atrip has been classified as Red List (Low Evidence).",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:57:27.324109+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATRIP as Red List (low evidence)",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:57:27.315682+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atrip has been classified as Red List (Low Evidence).",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:56:22.630734+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR73 as ready",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:56:22.622377+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr73 has been classified as Green List (High Evidence).",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:56:17.914170+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WDR73 as Green List (high evidence)",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:56:17.904175+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr73 has been classified as Green List (High Evidence).",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:54:58.312921+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BLM as ready",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:54:58.286620+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: blm has been classified as Green List (High Evidence).",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:54:54.494364+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BLM were set to 30214071",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:54:18.743525+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BLM as Green List (high evidence)",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:54:18.733866+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: blm has been classified as Green List (High Evidence).",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:53:40.208718+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR37 as ready",
"entity_name": "WDR37",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:53:40.198188+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr37 has been classified as Green List (High Evidence).",
"entity_name": "WDR37",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:53:37.261472+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR37 were changed from to Neurooculocardiogenitourinary syndrome MIM#618652",
"entity_name": "WDR37",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:53:19.740096+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDR37 were set to ",
"entity_name": "WDR37",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:52:52.384546+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDR37 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "WDR37",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:51:56.952184+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF335 as ready",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:51:56.940025+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf335 has been classified as Green List (High Evidence).",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:51:36.364960+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF335 were changed from to Microcephaly 10, primary, autosomal recessive (MIM#615095)",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:51:36.348318+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.204",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: WDR37: Rating: GREEN; Mode of pathogenicity: None; Publications: 31327508, 31327510; Phenotypes: Neurooculocardiogenitourinary syndrome MIM#618652; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "WDR37",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:51:20.562034+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZNF335 were set to 23178126; 27540107; 29652087",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:51:16.672152+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.203",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: BLM: Added comment: Microcephaly is a feature of Bloom Syndrome\r\n\r\nPMID: 30214071;\r\n- in a cohort of microcephalic patients (<=-2SD), 1 family with 2 affecteds are homozygous for a nonsense variant\r\n\r\nPMID: 29056561\r\n- 1x proband. At 36 yrs of age her head circumference was 47.8cm (-6.2SD)\r\n\r\nPMID: 23928670;\r\n- 1x patient of a consanguineous Dutch family. At 4 years of age: head circumference 45.9 cm (\u00013.2 SDS). Homozygous nonsense\r\n- 1x patient of a consanguineous Turkish family. At 5 years of age: head circumference 46.3 cm (\u00012.7 SDS). Homozygous nonsense\r\n\r\nPMID: 25129257;\r\n- 1 family with 3 affecteds. 1 had a head circumference of -4SD. Homozygous fs; Changed rating: GREEN; Changed publications: 30214071, 29056561, 23928670; Changed phenotypes: Bloom syndrome (MIM#210900)",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:51:01.929885+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZNF335 were set to ",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:50:47.732671+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NCAPD3 were set to ",
"entity_name": "NCAPD3",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:50:06.878696+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZNF335 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:49:29.695551+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NCAPD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NCAPD3",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:49:09.873325+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NCAPD3 as Amber List (moderate evidence)",
"entity_name": "NCAPD3",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:49:09.863527+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ncapd3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NCAPD3",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:48:40.774040+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NCAPD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 27737959; Phenotypes: Microcephaly 22, primary, autosomal recessive, MIM# 617984; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NCAPD3",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:45:15.810945+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NACC1 as ready",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:45:15.797191+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nacc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:45:12.945845+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NACC1 were changed from to Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination , MIM#617393",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:44:51.198041+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NACC1 were set to ",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:44:29.001743+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NACC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:43:57.845475+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NACC1 as Amber List (moderate evidence)",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:43:57.837370+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nacc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:43:31.549067+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NACC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28132692; Phenotypes: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination , MIM#617393; Mode of inheritance: None",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:37:59.349707+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYCN: Changed rating: GREEN; Changed phenotypes: Feingold syndrome 1, MIM# 164280",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:37:52.757121+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYCN as ready",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:37:52.745236+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mycn has been classified as Green List (High Evidence).",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:37:49.225209+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYCN as Green List (high evidence)",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:37:49.216346+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mycn has been classified as Green List (High Evidence).",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:37:24.923155+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYCN was added\ngene: MYCN was added to Microcephaly. Sources: Expert list\nMode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MYCN were set to 18470948\nPhenotypes for gene: MYCN were set to Feingold syndrome 1, MIM#\t164280\nAdded comment: Well established gene-disease association, microcephaly is a key feature. \nSources: Expert list",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:35:03.949613+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MRE11 as ready",
"entity_name": "MRE11",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:35:03.937763+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mre11 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MRE11",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:35:00.762418+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MRE11 were changed from to Nijmegen breakage syndrome-like severe microcephaly",
"entity_name": "MRE11",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:34:16.730732+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MRE11 were set to ",
"entity_name": "MRE11",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:33:03.102680+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.191",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: ZNF335: Rating: GREEN; Mode of pathogenicity: None; Publications: 23178126, 27540107, 29652087; Phenotypes: Microcephaly 10, primary, autosomal recessive (MIM#615095); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ZNF335",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:33:01.060151+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MRE11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRE11",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:32:44.355758+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MRE11 as Amber List (moderate evidence)",
"entity_name": "MRE11",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:32:44.345129+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mre11 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MRE11",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:32:14.805907+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MRE11: Rating: AMBER; Mode of pathogenicity: None; Publications: 21227757; Phenotypes: Nijmegen breakage syndrome-like severe microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRE11",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:30:58.878314+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.189",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:27:50.506017+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED17 as ready",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:27:50.496726+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med17 has been classified as Green List (High Evidence).",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:27:48.419530+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED17 were changed from to Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM# 613668",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:27:29.133954+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.188",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: WDR73 was added\ngene: WDR73 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR73 were set to 25466283; 26123727; 25873735; 26070982; 30315938\nPhenotypes for gene: WDR73 were set to Galloway-Mowat syndrome 1 MIM#251300\nReview for gene: WDR73 was set to GREEN\ngene: WDR73 was marked as current diagnostic\nAdded comment: Summary: many individuals with progressive microcephaly reported, though only a few (4 \r\n families) with head circumference -3SD.\r\n\r\nPMID 25466283: Three affected children from two families with LoF variants. All had progressive microcephaly among other phenotypes (e.g. facial dysmorphisms, brain MRI anomalies). Head circumferences were -3SD at 5yo, -2.5SD at 2yo, -3SD at 10yo.\r\n\r\nPMID 26123727: 9 individuals from 4 families with \"Microcephaly (< 3rd centile)\" and biallelic variants, ranging in age from 2.5yo to 31yo.\r\n\r\nPMID 26070982: describes 30 Amish individuals with the same homozygous LoF variant, 80% of whom (24 individuals) had head circumference <-2SD.\r\n\r\nPMID 25873735: 2 sibs with biallelic LoF variants and head circumference -1.8SD at 12yo and −1.15SD at 5yo respectively.\r\n\r\nPMID 30315938: 2 families with homozygous missense variants. All had postnatal microcephaly: -2.5SD, -4,5SD, -3,8SD from 1 family and -3 SD from the other. \nSources: Literature",
"entity_name": "WDR73",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:27:07.454162+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MED17 were set to ",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:26:31.422854+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MED17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:26:04.102997+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MED17: Rating: GREEN; Mode of pathogenicity: None; Publications: 20950787, 30345598, 26004231; Phenotypes: Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM# 613668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:22:27.805374+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MECP2 as ready",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:22:27.794554+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mecp2 has been classified as Green List (High Evidence).",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:22:21.998722+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MECP2 were changed from to Rett syndrome, MIM# 312750; Encephalopathy, neonatal severe 300673",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:21:13.189420+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MECP2 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": "MECP2",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:20:44.920472+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Rett syndrome, MIM# 312750, Encephalopathy, neonatal severe 300673; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:19:46.314772+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4034",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: ATRIP was added\ngene: ATRIP was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ATRIP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATRIP were set to 23144622\nPhenotypes for gene: ATRIP were set to Seckel Syndrome\nPenetrance for gene: ATRIP were set to unknown\nReview for gene: ATRIP was set to RED\nAdded comment: PMID: 23144622;\r\n- 1x proband from a consanguineous family\r\n- progressive severe microcephaly (-9 to -10SD)\r\n- cHet for a nonsense and a splice \nSources: Literature",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:17:19.442240+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATRIP as ready",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:17:19.431321+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atrip has been classified as Red List (Low Evidence).",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:17:13.489694+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATRIP as Red List (low evidence)",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:17:13.479180+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atrip has been classified as Red List (Low Evidence).",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:14:46.958848+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP1A2 as ready",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:14:46.949161+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp1a2 has been classified as Green List (High Evidence).",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:14:44.405628+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP1A2 were changed from to hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:14:20.160277+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP1A2 were set to ",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:13:48.589895+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP1A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:12:45.362416+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARCN1 as ready",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:12:45.358546+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Borderline Amber/Green. Microcephaly is a key part of the phenotype but few measurements actually reported.",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:12:45.329400+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arcn1 has been classified as Green List (High Evidence).",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:12:29.467900+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARCN1 were changed from to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164)",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:12:01.377633+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARCN1 were set to ",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:11:33.117245+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARCN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARCN1",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:08:53.743702+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP4S1 as ready",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:08:53.739514+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Borderline Amber/Green as only one affected individual <-3SD; however, part of same gene family as other spastic paraplegias with microcephaly.",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:08:53.709672+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4s1 has been classified as Green List (High Evidence).",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:08:50.694929+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP4S1 were changed from to Spastic paraplegia 52, autosomal recessive (MIM#614067)",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:07:50.732254+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP4S1 were set to ",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:07:25.946271+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AP4S1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:06:24.472989+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP4M1 as ready",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:06:24.463796+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap4m1 has been classified as Green List (High Evidence).",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:06:22.399575+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP4M1 were changed from to Spastic paraplegia 50, autosomal recessive (MIM#612936)",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:06:02.406311+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AP4M1 were set to ",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2020-08-31T16:05:35.355162+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AP4M1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2020-08-31T15:59:25.228306+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.171",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: BLM was added\ngene: BLM was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BLM were set to 30214071\nPhenotypes for gene: BLM were set to Bloom syndrome\t(MIM#210900)\nPenetrance for gene: BLM were set to unknown\nReview for gene: BLM was set to RED\nAdded comment: Microcephaly is a feature of Bloom Syndrome, however there is limited evidence for the association of microcephaly with BLM gene specifically.\r\n\r\nPMID: 30214071;\r\nin a cohort of microcephalic patients (<=-2SD), 1 family with 2 affecteds are homozygous for a nonsense variant \nSources: Literature",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2020-08-31T13:59:24.293003+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.171",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: ATRIP was added\ngene: ATRIP was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: ATRIP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATRIP were set to 23144622\nPhenotypes for gene: ATRIP were set to Seckel Syndrome\nPenetrance for gene: ATRIP were set to unknown\nReview for gene: ATRIP was set to RED\nAdded comment: PMID: 23144622;\r\n- 1x proband from a consanguineous family\r\n- progressive severe microcephaly (-9 to -10SD)\r\n- cHet for a nonsense and a splice \nSources: Literature",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2020-08-31T13:48:50.985636+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.171",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30690204, 31608932; Phenotypes: hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2020-08-31T13:17:03.902235+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.171",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: ARCN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27476655; Phenotypes: Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ARCN1",
"entity_type": "gene"
}
]
}