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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=432",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=430",
"results": [
{
"created": "2024-06-26T19:38:18.933152+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EBF3 as Green List (high evidence)",
"entity_name": "EBF3",
"entity_type": "gene"
},
{
"created": "2024-06-26T19:38:18.920411+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ebf3 has been classified as Green List (High Evidence).",
"entity_name": "EBF3",
"entity_type": "gene"
},
{
"created": "2024-06-26T19:27:36.376351+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DIP2C as ready",
"entity_name": "DIP2C",
"entity_type": "gene"
},
{
"created": "2024-06-26T19:27:36.366967+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dip2c has been classified as Green List (High Evidence).",
"entity_name": "DIP2C",
"entity_type": "gene"
},
{
"created": "2024-06-26T19:27:29.887157+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DIP2C as Green List (high evidence)",
"entity_name": "DIP2C",
"entity_type": "gene"
},
{
"created": "2024-06-26T19:27:29.855937+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dip2c has been classified as Green List (High Evidence).",
"entity_name": "DIP2C",
"entity_type": "gene"
},
{
"created": "2024-06-26T19:27:12.139720+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDX3X as ready",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2024-06-26T19:27:12.129335+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx3x has been classified as Green List (High Evidence).",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2024-06-26T19:27:05.902190+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DDX3X as Green List (high evidence)",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2024-06-26T19:27:05.890552+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx3x has been classified as Green List (High Evidence).",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2024-06-26T19:26:45.750742+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDK13 as ready",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2024-06-26T19:26:45.728418+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk13 has been classified as Green List (High Evidence).",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2024-06-26T19:26:38.795427+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDK13 as Green List (high evidence)",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2024-06-26T19:26:38.784015+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk13 has been classified as Green List (High Evidence).",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2024-06-26T19:26:18.739801+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRPF1 as ready",
"entity_name": "BRPF1",
"entity_type": "gene"
},
{
"created": "2024-06-26T19:26:18.712183+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brpf1 has been classified as Green List (High Evidence).",
"entity_name": "BRPF1",
"entity_type": "gene"
},
{
"created": "2024-06-26T19:26:13.688054+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BRPF1 as Green List (high evidence)",
"entity_name": "BRPF1",
"entity_type": "gene"
},
{
"created": "2024-06-26T19:26:13.679690+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brpf1 has been classified as Green List (High Evidence).",
"entity_name": "BRPF1",
"entity_type": "gene"
},
{
"created": "2024-06-26T19:25:53.995950+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARHGEF9 as ready",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2024-06-26T19:25:53.969061+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arhgef9 has been classified as Red List (Low Evidence).",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2024-06-26T19:25:39.308482+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARHGEF9 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2024-06-26T19:25:25.402234+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARHGEF9 as Red List (low evidence)",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2024-06-26T19:25:25.391639+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arhgef9 has been classified as Red List (Low Evidence).",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:57:25.648639+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OPHN1 as ready",
"entity_name": "OPHN1",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:57:25.637364+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ophn1 has been classified as Red List (Low Evidence).",
"entity_name": "OPHN1",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:57:17.912194+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OPHN1 as Red List (low evidence)",
"entity_name": "OPHN1",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:57:17.896251+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ophn1 has been classified as Red List (Low Evidence).",
"entity_name": "OPHN1",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:55:58.166495+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGA were set to 33528536; 24706016",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:55:07.629890+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLP1 were set to 33528536; 25280894; 34816117",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:54:19.582872+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHF6 as ready",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:54:19.567130+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phf6 has been classified as Red List (Low Evidence).",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:52:53.939628+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PHF6 as Red List (low evidence)",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:52:53.930212+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phf6 has been classified as Red List (Low Evidence).",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:52:14.428317+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLA1 as ready",
"entity_name": "POLA1",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:52:14.413687+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pola1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLA1",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:52:08.648608+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLA1 as Amber List (moderate evidence)",
"entity_name": "POLA1",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:52:08.640040+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pola1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLA1",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:51:23.338227+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PQBP1 as ready",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:51:23.325587+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pqbp1 has been classified as Red List (Low Evidence).",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:51:17.889814+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PQBP1 as Red List (low evidence)",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:51:17.875473+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pqbp1 has been classified as Red List (Low Evidence).",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:50:33.331443+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TAF1 were set to 26637982; 33528536; 17273961",
"entity_name": "TAF1",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:49:43.448771+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THOC2 as ready",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:49:43.438854+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Amber rating due to lack of phenotypic data in the large cohort study.",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:49:43.377460+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thoc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:49:15.037017+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: THOC2 as Amber List (moderate evidence)",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:49:15.026166+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thoc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:48:28.106564+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZDHHC9 as ready",
"entity_name": "ZDHHC9",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:48:28.097230+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zdhhc9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZDHHC9",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:47:02.218013+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZDHHC9 as Amber List (moderate evidence)",
"entity_name": "ZDHHC9",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:47:02.200613+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zdhhc9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZDHHC9",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:46:13.935915+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: B4GALNT1 as Amber List (moderate evidence)",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:46:13.920864+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b4galnt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:45:27.483909+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RARB as ready",
"entity_name": "RARB",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:45:27.472563+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rarb has been classified as Red List (Low Evidence).",
"entity_name": "RARB",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:45:21.917246+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RARB as Red List (low evidence)",
"entity_name": "RARB",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:45:21.903873+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rarb has been classified as Red List (Low Evidence).",
"entity_name": "RARB",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:44:44.561464+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAPK8IP3 as ready",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:44:44.547474+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mapk8ip3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:44:35.213013+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAPK8IP3 as Amber List (moderate evidence)",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:44:35.198891+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mapk8ip3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:43:43.738693+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR2A as ready",
"entity_name": "POLR2A",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:43:43.728477+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr2a has been classified as Red List (Low Evidence).",
"entity_name": "POLR2A",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:43:37.837891+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLR2A as Red List (low evidence)",
"entity_name": "POLR2A",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:43:37.826785+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr2a has been classified as Red List (Low Evidence).",
"entity_name": "POLR2A",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:42:52.311044+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNB1 were set to 33528536; 34788679",
"entity_name": "KCNB1",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:42:13.616352+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNB1 as Green List (high evidence)",
"entity_name": "KCNB1",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:42:13.607783+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnb1 has been classified as Green List (High Evidence).",
"entity_name": "KCNB1",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:41:20.278339+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD3 as ready",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:41:20.264229+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd3 has been classified as Red List (Low Evidence).",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:40:56.808626+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHD3 as Red List (low evidence)",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:40:56.798467+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd3 has been classified as Red List (Low Evidence).",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:40:18.158053+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABHD16A as ready",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:40:18.139395+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abhd16a has been classified as Red List (Low Evidence).",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:40:03.972146+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ABHD16A as Red List (low evidence)",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:40:03.949157+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abhd16a has been classified as Red List (Low Evidence).",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:39:28.835832+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZMYM2 as ready",
"entity_name": "ZMYM2",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:39:28.825278+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zmym2 has been classified as Red List (Low Evidence).",
"entity_name": "ZMYM2",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:39:19.189808+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZMYM2 as Red List (low evidence)",
"entity_name": "ZMYM2",
"entity_type": "gene"
},
{
"created": "2024-06-26T18:39:19.172323+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zmym2 has been classified as Red List (Low Evidence).",
"entity_name": "ZMYM2",
"entity_type": "gene"
},
{
"created": "2024-06-26T17:30:15.054905+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: ALS: at least 4 families reported with SNVs.\r\n\r\nID: intragenic deletions in 3 families, some inherited.; to: ALS: at least 4 families reported with SNVs, but LIMITED by ClinGen.\r\n\r\nID: intragenic deletions in 3 families, some inherited. Unclear if SNVs cause phenotype.",
"entity_name": "ERBB4",
"entity_type": "gene"
},
{
"created": "2024-06-26T17:29:52.226283+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ERBB4: Changed rating: AMBER",
"entity_name": "ERBB4",
"entity_type": "gene"
},
{
"created": "2024-06-26T14:38:01.888335+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.315",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: ZMYM2 was added\ngene: ZMYM2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ZMYM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZMYM2 were set to PMID: 38168508\nPhenotypes for gene: ZMYM2 were set to Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, MIM#619522\nReview for gene: ZMYM2 was set to RED\nAdded comment: Single case with de novo pathogenic variant in ZMYM2, diagnosed with spastic quadriplegic cerebral palsy originally attributed to other causes (PMID: 38168508). \nSources: Literature",
"entity_name": "ZMYM2",
"entity_type": "gene"
},
{
"created": "2024-06-26T14:31:18.745938+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.315",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: ABHD16A was added\ngene: ABHD16A was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABHD16A were set to PMID: 38168508\nPhenotypes for gene: ABHD16A were set to Spastic paraplegia 86, autosomal recessive, MIM#619735\nReview for gene: ABHD16A was set to RED\nAdded comment: Single case with homozygous LP variant in ABHD16A, diagnosed with hypotonic-ataxic cerebral palsy with unclear cause (PMID: 38168508). SPG86 is associated with global developmental delay/intellectual disability, progressive spasticity affecting the upper and lower limbs, and corpus callosum and white matter anomalies. \nSources: Literature",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2024-06-26T14:25:22.062462+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.315",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: CHD3 was added\ngene: CHD3 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHD3 were set to PMID: 38168508\nPhenotypes for gene: CHD3 were set to Snijders Blok-Campeau syndrome, MIM#618205\nReview for gene: CHD3 was set to RED\nAdded comment: Single case with de novo LP variant in CHD3, diagnosed with spastic hemiplegic cerebral palsy with unclear cause (PMID: 38168508). Causal link not established. \nSources: Literature",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2024-06-26T14:16:22.373637+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.315",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "edited their review of gene: KCNB1: Added comment: Additional case with de novo likely pathogenic variant, diagnosed with spastic diplegic cerebral palsy with unclear cause (PMID: 38168508).; Changed rating: GREEN; Changed publications: PMID: 38693247, 38168508",
"entity_name": "KCNB1",
"entity_type": "gene"
},
{
"created": "2024-06-26T14:12:08.322814+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.315",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: POLR2A was added\ngene: POLR2A was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: POLR2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POLR2A were set to PMID: 38168508\nPhenotypes for gene: POLR2A were set to Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, MIM#618603\nReview for gene: POLR2A was set to RED\nAdded comment: Single case with de novo LP variant in POLR2A, diagnosed with hypotonic-ataxic cerebral palsy with unclear cause (PMID: 38168508). \nSources: Literature",
"entity_name": "POLR2A",
"entity_type": "gene"
},
{
"created": "2024-06-26T14:06:37.291001+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.315",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: MAPK8IP3 was added\ngene: MAPK8IP3 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAPK8IP3 were set to PMID: 38168508\nPhenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities, MIM#618443\nReview for gene: MAPK8IP3 was set to AMBER\nAdded comment: Single case with pathogenic MAPK8IP3 variant, inheritance not confirmed, diagnosed with spastic diplegic cerebral palsy with unclear cause (PMID: 38168508). \r\n\r\nAdditional cases series reported two recurrent de novo missense variants in MAPK8IP3 in 5 individuals from four families with a core set of neurodevelopmental symptoms, including spastic diplegia, intellectual disability, and corpus callosum hypoplasia (PMID: 30945334). \nSources: Literature",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2024-06-26T13:49:37.530697+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.315",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: RARB was added\ngene: RARB was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: RARB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: RARB were set to PMID: 38168508\nPhenotypes for gene: RARB were set to Microphthalmia, syndromic 12, MIM#615524\nMode of pathogenicity for gene: RARB was set to Other\nReview for gene: RARB was set to RED\nAdded comment: 1 individual reported with phenotype mimicking CP and recurrent p.Leu213Pro GOF variant in RARB. GOF variants in RARB are associated with severe global developmental delay with progressive motor impairment due to spasticity and/or dystonia (with or without chorea). Biallelic truncating variants also reported to cause microphthalmia and diaphragmatic hernia. \nSources: Literature",
"entity_name": "RARB",
"entity_type": "gene"
},
{
"created": "2024-06-26T13:36:51.831627+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.315",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "edited their review of gene: B4GALNT1: Added comment: Additional case with compound heterozygous variants in B4GALNT1, diagnosed with spastic diplegic cerebral palsy with unclear cause (PMID: 38168508).; Changed rating: AMBER; Changed publications: PMID: 38693247, PMID: 38168508",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2024-06-26T13:28:14.794472+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.315",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: ZDHHC9 was added\ngene: ZDHHC9 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ZDHHC9 were set to PMID: 33528536; PMID: 38693247\nPhenotypes for gene: ZDHHC9 were set to Intellectual developmental disorder, X-linked syndromic, Raymond type, MIM#300799\nReview for gene: ZDHHC9 was set to AMBER\nAdded comment: Single males hemizygous for P/LP variants reported in each of 2 large CP sequencing studies (PMID: 33528536; PMID: 38693247). Detailed clinical information not supplied for either. Genome-wide significant burden of rare variants in ZDHHC9 reported in panel resequencing study of CP cohort (PMID: 31700678). \nSources: Literature",
"entity_name": "ZDHHC9",
"entity_type": "gene"
},
{
"created": "2024-06-26T12:59:50.936209+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.315",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: THOC2 was added\ngene: THOC2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: THOC2 were set to PMID: 38168508; PMID: 38693247; PMID: 32116545\nPhenotypes for gene: THOC2 were set to Intellectual developmental disorder, X-linked 12, MIM#300957\nReview for gene: THOC2 was set to GREEN\nAdded comment: 3 hemizygous males with pathogenic/likely pathogenic variants reported in large-scale CP exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. \r\n\r\nAdditional female with cryptogenic spastic quadriplegic CP also reported with heterozygous de novo pathogenic THOC2 variant (PMID: 38168508). Some females reported in literature previously. Dyskinesia, dystonia and spasticity are reported as clinical features in several additional cases in a series (PMID: 32116545). \nSources: Literature",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2024-06-26T12:36:54.207218+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.315",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: TAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Intellectual developmental disorder, X-linked syndromic 33, OMIM #300966, Dystonia-Parkinsonism, X-linked, OMIM #314250; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TAF1",
"entity_type": "gene"
},
{
"created": "2024-06-26T12:30:50.988808+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.315",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: PQBP1 was added\ngene: PQBP1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PQBP1 were set to PMID: 38693247\nPhenotypes for gene: PQBP1 were set to Renpenning syndrome, MIM#309500\nReview for gene: PQBP1 was set to RED\nAdded comment: 1 hemizygous male reported with splice variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Spastic diplegia is a common feature in individuals with Renpenning syndrome. \nSources: Literature",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2024-06-26T12:09:04.669131+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.315",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: POLA1 was added\ngene: POLA1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: POLA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: POLA1 were set to PMID: 38693247\nPhenotypes for gene: POLA1 were set to Van Esch-O'Driscoll syndrome, MIM#301030\nReview for gene: POLA1 was set to AMBER\nAdded comment: 3 males with hemizygous LOF variants reported in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Spasticity has been reported as a rare feature of VEODS. \nSources: Literature",
"entity_name": "POLA1",
"entity_type": "gene"
},
{
"created": "2024-06-26T12:00:34.202219+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.315",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: PHF6 was added\ngene: PHF6 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: PHF6 were set to PMID: 38693247\nPhenotypes for gene: PHF6 were set to Borjeson-Forssman-Lehmann syndrome, MIM#301900\nReview for gene: PHF6 was set to RED\nAdded comment: Single male proband with hemizygous variant impacting splicing of the first non-coding exon reported in large-scale exome sequencing study (PMID: 38693247). In silico prediction is strong, but functional impact not assessed. Detailed clinical information not supplied. BFLS is characterized by short stature, obesity, hypogonadism, hypotonia, intellectual disability, distinctive facial features, fleshy ears, and finger and toe abnormalities. \nSources: Literature",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2024-06-26T11:55:20.209331+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.315",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Pelizaeus-Merzbacher disease MIM#312080, Spastic paraplegia 2, X-linked MIM#312920; 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": "PLP1",
"entity_type": "gene"
},
{
"created": "2024-06-26T11:52:59.725280+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.315",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2 MIM#300868, Neurodevelopmental disorder with epilepsy and hemochromatosis MIM#301072, Paroxysmal nocturnal hemoglobinuria, somatic MIM#300818; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2024-06-26T10:59:39.829283+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.315",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: OPHN1 was added\ngene: OPHN1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: OPHN1 were set to PMID: 38693247\nPhenotypes for gene: OPHN1 were set to Intellectual developmental disorder, X-linked syndromic, Billuart type, MIM#300486\nReview for gene: OPHN1 was set to RED\nAdded comment: 1 male with hemizygous variant reported in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. MRXSBL is associated with generalized hypotonia and delayed psychomotor development from infancy, with some individuals developing ataxia associated with cerebellar hypoplasia. \nSources: Literature",
"entity_name": "OPHN1",
"entity_type": "gene"
},
{
"created": "2024-06-26T02:06:31.316444+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.8",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: ERF was added\ngene: ERF was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: ERF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ERF were set to 36117209; 35761471; 35852485\nPhenotypes for gene: ERF were set to Craniosynostosis 4, MIM# 600775\nReview for gene: ERF was set to AMBER\nAdded comment: First two reported CAS cases with a nonsense ERF variant (Kaspi et al., 2022; PMID: 36117209) inherited from mother to proband.\r\n\r\nCare et al. (2022; PMID: 35761471) report 5 cases with ERF variants, and of these 3 have speech disorder.\r\n\r\nModdemann et al. (PMID: 35852485) conduct a meta-analysis of 79 independent samples with ERF variants and find 60% have speech delay/impairments. \nSources: Expert list, Expert Review",
"entity_name": "ERF",
"entity_type": "gene"
}
]
}