HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1191",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1189",
"results": [
{
"created": "2021-10-07T12:12:24.475117+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.9",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ZEB2 was added\ngene: ZEB2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZEB2 were set to PMID: 33528536, 33098801\nPhenotypes for gene: ZEB2 were set to Mowat-Wilson syndrome, OMIM # 235730\nReview for gene: ZEB2 was set to GREEN\nAdded comment: Neurodevelopmental disorder with DD, ID, epilepsy, and dysmorphism. \r\nMoreno-De-Luca et al. (2021) reported 3 patients with CP with P/LP variants.\r\nZech et al. (2020) reported 1 patient with dystonic CP with de novo variant. \nSources: Literature",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:10:58.701086+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GDF11 as Green List (high evidence)",
"entity_name": "GDF11",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:10:58.691887+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gdf11 has been classified as Green List (High Evidence).",
"entity_name": "GDF11",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:10:35.534574+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GDF11: Added comment: Ravenscroft et al. (2021) report additional 6 probands who presented with craniofacial (5/6), vertebral (5/6), neurological (6/6), visual (4/6), cardiac (3/6), auditory (3/6), and connective tissue abnormalities (3/6). They found de novo and inherited variants in GDF11. gdf11 mutant zebrafish showed craniofacial abnormalities and body segmentation defects that matched some patient phenotypes. Expression of the patients’ variants in the fly showed that one nonsense variant in GDF11 is a severe loss-of-function (LOF) allele whereas the missense variants are partial LOF variants.; Changed rating: GREEN; Changed publications: 31215115, 34113007",
"entity_name": "GDF11",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:10:13.305222+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GDF11 were set to PubMed: 31215115",
"entity_name": "GDF11",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:08:50.526806+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.8",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: UBE3A as Green List (high evidence)",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:08:50.516031+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.8",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ube3a has been classified as Green List (High Evidence).",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:08:17.431031+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.7",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: UBE3A was added\ngene: UBE3A was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: UBE3A was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)\nPublications for gene: UBE3A were set to PMID: 33528536\nPhenotypes for gene: UBE3A were set to Angelman syndrome , OMIM #105830\nReview for gene: UBE3A was set to GREEN\nAdded comment: Neurodevelopmental disorder with DD, ID, epilepsy, and ataxia. Moreno-De-Luca et al. (2021) reported 3 patients with CP with P/LP variants. \nSources: Literature",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:08:09.806234+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLXNA1 as ready",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:08:09.789710+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plxna1 has been classified as Green List (High Evidence).",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:08:05.161193+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLXNA1 as Green List (high evidence)",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:08:05.149797+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plxna1 has been classified as Green List (High Evidence).",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:07:04.193257+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLXNA1 was added\ngene: PLXNA1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PLXNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: PLXNA1 were set to 34054129\nPhenotypes for gene: PLXNA1 were set to Neurodevelopmental disorder with cerebral and eye anomalies\nReview for gene: PLXNA1 was set to GREEN\nAdded comment: Dworschak et al. (2021) via WES reported 10 patients from 7 families with biallelic (n=7) or de novo (n=3) PLXNA1 variants. Shared phenotypic features include global developmental delay (9/10), brain anomalies (6/10), and eye anomalies (7/10). Seizures were predominantly reported in patients with monoallelic variants. Zebrafish studies showed an embryonic role of plxna1a in the development of the central nervous system and the eye. Biallelic variants in the extracellular Plexin-A1 domains lead to impaired dimerization or lack of receptor molecules, whereas monoallelic variants in the intracellular Plexin-A1 domains might impair downstream signaling through a dominant-negative effect. \nSources: Literature",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:05:28.417104+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLXNA1 as ready",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:05:28.407338+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plxna1 has been classified as Green List (High Evidence).",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:05:20.117077+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLXNA1 as Green List (high evidence)",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:05:20.103609+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plxna1 has been classified as Green List (High Evidence).",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:05:04.350050+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLXNA1 was added\ngene: PLXNA1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PLXNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: PLXNA1 were set to 34054129\nPhenotypes for gene: PLXNA1 were set to Neurodevelopmental disorder with cerebral and eye anomalies\nReview for gene: PLXNA1 was set to GREEN\nAdded comment: Dworschak et al. (2021) via WES reported 10 patients from 7 families with biallelic (n=7) or de novo (n=3) PLXNA1 variants. Shared phenotypic features include global developmental delay (9/10), brain anomalies (6/10), and eye anomalies (7/10). Seizures were predominantly reported in patients with monoallelic variants. Zebrafish studies showed an embryonic role of plxna1a in the development of the central nervous system and the eye. Biallelic variants in the extracellular Plexin-A1 domains lead to impaired dimerization or lack of receptor molecules, whereas monoallelic variants in the intracellular Plexin-A1 domains might impair downstream signaling through a dominant-negative effect. \nSources: Literature",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:02:06.744134+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLXNA1 as ready",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:02:06.733980+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plxna1 has been classified as Green List (High Evidence).",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2021-10-07T12:00:53.736860+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.6",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: TUBB2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2021-10-07T11:58:05.055631+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.6",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TUBB4A as Green List (high evidence)",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2021-10-07T11:58:05.044276+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.6",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tubb4a has been classified as Green List (High Evidence).",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2021-10-07T11:57:50.515853+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.5",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TUBB4A as Green List (high evidence)",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2021-10-07T11:57:50.491619+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.5",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tubb4a has been classified as Green List (High Evidence).",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2021-10-07T11:57:29.217001+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.5",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TUBB4A as Green List (high evidence)",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2021-10-07T11:57:29.206966+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.5",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tubb4a has been classified as Green List (High Evidence).",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2021-10-07T11:56:02.097537+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.4",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TUBB4A was added\ngene: TUBB4A was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TUBB4A were set to PMID: 34531397, 33528536\nPhenotypes for gene: TUBB4A were set to Dystonia 4, torsion, autosomal dominant, OMIM #128101; Leukodystrophy, hypomyelinating, 6, OMIM # 612438\nReview for gene: TUBB4A was set to GREEN\nAdded comment: Van Eyk et al. (2021) reported 1 patient with dystonic CP with de novo variant. Moreno-De-Luca et al. (2021) reported 6 patients with CP with P/LP variants. \nSources: Literature",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2021-10-07T11:47:33.129653+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.3",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2021-10-07T11:44:38.210243+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.3",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TUBB2B was added\ngene: TUBB2B was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: TUBB2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TUBB2B were set to PMID: 33528536\nPhenotypes for gene: TUBB2B were set to Cortical dysplasia, complex, with other brain malformations 7, OMIM #\t610031\nReview for gene: TUBB2B was set to RED\nAdded comment: Moreno-De-Luca et al. (2021) reported 3 patients with cerebral palsy with de novo pathogenic/LP variants BUT primarily presents with cortical malformations \nSources: Literature",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2021-10-07T11:40:31.560801+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.2",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TCF4 as Green List (high evidence)",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2021-10-07T11:40:31.548585+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.2",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tcf4 has been classified as Green List (High Evidence).",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2021-10-07T11:40:16.076890+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.1",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TCF4 as Green List (high evidence)",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2021-10-07T11:40:16.052507+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.1",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tcf4 has been classified as Green List (High Evidence).",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2021-10-07T11:39:54.378202+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.1",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TCF4 as Green List (high evidence)",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2021-10-07T11:39:54.359353+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.1",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tcf4 has been classified as Green List (High Evidence).",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2021-10-07T11:38:57.112814+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.0",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: TCF4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33528536; Phenotypes: Pitt-Hopkins syndrome, MIM# 610954; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2021-10-07T11:25:31.918463+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4187",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34163037; Phenotypes: Neurodevelopmental abnormalities and epilepsy, no OMIM#; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2021-10-07T11:20:02.703427+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4187",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SHANK1 as Green List (high evidence)",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2021-10-07T11:20:02.693213+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4187",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: shank1 has been classified as Green List (High Evidence).",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2021-10-07T11:19:29.115527+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4186",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SHANK1 as Green List (high evidence)",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2021-10-07T11:19:29.104217+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4186",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: shank1 has been classified as Green List (High Evidence).",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2021-10-07T11:18:47.329856+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4185",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SHANK1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34113010; Phenotypes: Neurodevelopmental disorder, no OMIM#; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2021-10-07T11:12:58.152829+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.143",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: GDF11 as Green List (high evidence)",
"entity_name": "GDF11",
"entity_type": "gene"
},
{
"created": "2021-10-07T11:12:58.141552+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.143",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: gdf11 has been classified as Green List (High Evidence).",
"entity_name": "GDF11",
"entity_type": "gene"
},
{
"created": "2021-10-07T11:12:09.350666+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.142",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: GDF11: Added comment: Ravenscroft et al. (2021) report 6 probands who presented with craniofacial (5/6), vertebral (5/6), neurological (6/6), visual (4/6), cardiac (3/6), auditory (3/6), and connective tissue abnormalities (3/6). They found de novo and inherited variants in GDF11. gdf11 mutant zebrafish showed craniofacial abnormalities and body segmentation defects that matched some patient phenotypes. Expression of the patients’ variants in the fly showed that one nonsense variant in GDF11 is a severe loss-of-function (LOF) allele whereas the missense variants are partial LOF variants.; Changed rating: GREEN; Changed publications: PubMed: 31215115, 34113007; Changed phenotypes: Vertebral hypersegmentation and orofacial anomalies (VHO), OMIM #619122",
"entity_name": "GDF11",
"entity_type": "gene"
},
{
"created": "2021-10-07T11:06:21.500197+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4185",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PLXNA1 as Green List (high evidence)",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2021-10-07T11:06:21.490354+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4185",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: plxna1 has been classified as Green List (High Evidence).",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2021-10-07T11:02:01.751100+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4184",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PLXNA1 was added\ngene: PLXNA1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PLXNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: PLXNA1 were set to PMID: 34054129\nPhenotypes for gene: PLXNA1 were set to Neurodevelopmental disorder with cerebral and eye anomalies\nReview for gene: PLXNA1 was set to GREEN\nAdded comment: Dworschak et al. (2021) via WES reported 10 patients from 7 families with biallelic (n=7) or de novo (n=3) PLXNA1 variants. Shared phenotypic features include global developmental delay (9/10), brain anomalies (6/10), and eye anomalies (7/10). Seizures were predominantly reported in patients with monoallelic variants. Zebrafish studies showed an embryonic role of plxna1a in the development of the central nervous system and the eye. Biallelic variants in the extracellular Plexin-A1 domains lead to impaired dimerization or lack of receptor molecules, whereas monoallelic variants in the intracellular Plexin-A1 domains might impair downstream signaling through a dominant-negative effect. \nSources: Literature",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2021-10-07T08:59:06.875447+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-10-07T08:58:34.555469+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCF4 as ready",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2021-10-07T08:58:34.544894+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcf4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2021-10-07T08:58:29.756760+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TCF4 as Amber List (moderate evidence)",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2021-10-07T08:58:29.747479+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcf4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2021-10-07T08:57:27.360631+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TCF4 was added\ngene: TCF4 was added to Cerebral Palsy. Sources: Expert Review\nMode of inheritance for gene: TCF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TCF4 were set to Pitt-Hopkins syndrome, MIM# 610954\nReview for gene: TCF4 was set to AMBER\nAdded comment: Well established gene-disease association. Severe ID, seizures, dysmorphic features, but can be ataxic. Not specifically identified in CP cohorts. \nSources: Expert Review",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2021-10-07T08:52:34.606800+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STXBP1 as ready",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2021-10-07T08:52:34.596906+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stxbp1 has been classified as Green List (High Evidence).",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2021-10-07T08:51:31.462965+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STXBP1 as Green List (high evidence)",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2021-10-07T08:51:31.452700+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stxbp1 has been classified as Green List (High Evidence).",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2021-10-07T08:51:07.792703+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STXBP1 was added\ngene: STXBP1 was added to Cerebral Palsy. Sources: Expert Review\nMode of inheritance for gene: STXBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: STXBP1 were set to 29761117\nPhenotypes for gene: STXBP1 were set to Developmental and epileptic encephalopathy 4, MIM# 612164\nReview for gene: STXBP1 was set to GREEN\nAdded comment: ID and seizures, though spastic quadriplegia reported, and variants identified as part of CP cohorts. \nSources: Expert Review",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:28.478519+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRX was added\ngene: CRX was added to Congenital nystagmus. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: CRX was set to ",
"entity_name": "CRX",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:28.428422+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GUCY2D was added\ngene: GUCY2D was added to Congenital nystagmus. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: GUCY2D was set to ",
"entity_name": "GUCY2D",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:28.377303+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AIPL1 was added\ngene: AIPL1 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: AIPL1 was set to ",
"entity_name": "AIPL1",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:28.327215+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPATA7 was added\ngene: SPATA7 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: SPATA7 was set to ",
"entity_name": "SPATA7",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:28.277625+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RDH12 was added\ngene: RDH12 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: RDH12 was set to ",
"entity_name": "RDH12",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:28.222354+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPGRIP1 was added\ngene: RPGRIP1 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: RPGRIP1 was set to ",
"entity_name": "RPGRIP1",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:28.172237+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP290 was added\ngene: CEP290 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: CEP290 was set to ",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:28.122738+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ROM1 was added\ngene: ROM1 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: ROM1 was set to ",
"entity_name": "ROM1",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:28.074177+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GDF6 was added\ngene: GDF6 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: GDF6 was set to ",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:28.022100+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IMPDH1 was added\ngene: IMPDH1 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: IMPDH1 was set to ",
"entity_name": "IMPDH1",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:27.962962+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: USP45 was added\ngene: USP45 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: USP45 was set to ",
"entity_name": "USP45",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:27.875825+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRPH2 was added\ngene: PRPH2 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: PRPH2 was set to ",
"entity_name": "PRPH2",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:27.797407+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Green was added to TULP1.\nSource Expert list was added to TULP1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TULP1",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:27.714135+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRAT was added\ngene: LRAT was added to Congenital nystagmus. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: LRAT was set to ",
"entity_name": "LRAT",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:27.649800+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNJ13 was added\ngene: KCNJ13 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: KCNJ13 was set to ",
"entity_name": "KCNJ13",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:27.594671+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RD3 was added\ngene: RD3 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: RD3 was set to ",
"entity_name": "RD3",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:27.541567+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRB1 was added\ngene: CRB1 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: CRB1 was set to ",
"entity_name": "CRB1",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:27.484856+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert list was added to RPE65.",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:27.430144+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NMNAT1 was added\ngene: NMNAT1 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: NMNAT1 was set to ",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:27.369365+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RGS9BP was added\ngene: RGS9BP was added to Congenital nystagmus. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: RGS9BP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RGS9BP were set to 19818506; 14702087\nPhenotypes for gene: RGS9BP were set to Bradyopsia MIM#608415",
"entity_name": "RGS9BP",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:27.238107+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RGS9 was added\ngene: RGS9 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: RGS9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RGS9 were set to 10676965; 29107794; 14702087\nPhenotypes for gene: RGS9 were set to Bradyopsia MIM#608415",
"entity_name": "RGS9",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:27.178325+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDE6H was added\ngene: PDE6H was added to Congenital nystagmus. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: PDE6H was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDE6H were set to 22901948\nPhenotypes for gene: PDE6H were set to Achromatopsia 6 MIM#610024",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:27.131181+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDE6C was added\ngene: PDE6C was added to Congenital nystagmus. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: PDE6C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDE6C were set to 19615668; 30080950\nPhenotypes for gene: PDE6C were set to Cone dystrophy 4, MIM# 613093; Achromatopsia-5",
"entity_name": "PDE6C",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:27.083806+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNAT2 was added\ngene: GNAT2 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: GNAT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GNAT2 were set to 32203983; 17251445\nPhenotypes for gene: GNAT2 were set to Achromatopsia 4 MIM#613856",
"entity_name": "GNAT2",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:27.035481+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CNGB3 was added\ngene: CNGB3 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: CNGB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CNGB3 were set to 17265047\nPhenotypes for gene: CNGB3 were set to Achromatopsia 3 MIM#262300",
"entity_name": "CNGB3",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:26.982341+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CNGA3 was added\ngene: CNGA3 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: CNGA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CNGA3 were set to 9662398; 17265047; 11536077\nPhenotypes for gene: CNGA3 were set to Achromatopsia 2 MIM#216900",
"entity_name": "CNGA3",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:26.930892+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATF6 was added\ngene: ATF6 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: ATF6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATF6 were set to 26029869; 26063662\nPhenotypes for gene: ATF6 were set to Achromatopsia 7 MIM#616517",
"entity_name": "ATF6",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:26.874767+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITM2B was added\ngene: ITM2B was added to Congenital nystagmus. Sources: Expert list,Expert Review Red\nMode of inheritance for gene: ITM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ITM2B were set to ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MIM#616079",
"entity_name": "ITM2B",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:26.828160+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRPM1 was added\ngene: TRPM1 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TRPM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRPM1 were set to Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216",
"entity_name": "TRPM1",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:26.781353+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC24A1 was added\ngene: SLC24A1 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SLC24A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC24A1 were set to Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830",
"entity_name": "SLC24A1",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:26.733005+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SAG was added\ngene: SAG was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SAG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SAG were set to Oguchi disease-1, MIM# 258100",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:26.685699+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPE65 was added\ngene: RPE65 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RPE65 were set to Leber Congenital Amaurosis; Leber congenital amaurosis 2, 204100; Leber congenital amaurosis 2; Retinitis pigmentosa 20",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:26.632620+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RIMS2 was added\ngene: RIMS2 was added to Congenital nystagmus. Sources: Expert Review Green,Literature\nMode of inheritance for gene: RIMS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RIMS2 were set to night blindness; Cone-rod synaptic disorder syndrome, congenital nonprogressive\t, MIM#618970; retinal dysfunction; nystagmus; autism",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:26.578388+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RHO was added\ngene: RHO was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: RHO was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: RHO were set to Night blindness, congenital stationary autosomal dominant 1; Retinitis punctata albescens; Retinitis pigmentosa",
"entity_name": "RHO",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:26.524947+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RDH5 was added\ngene: RDH5 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: RDH5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RDH5 were set to Congenital Stationary Night Blindness; Fundus albipunctatus; Fundus albipunctatus, 136880; Achromatopsia, Cone, and Cone-rod Dystrophy",
"entity_name": "RDH5",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:26.474808+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDE6B was added\ngene: PDE6B was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PDE6B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: PDE6B were set to Night blindness, congenital stationary, autosomal dominant 2, 163500; Retinitis pigmentosa",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:26.428075+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NYX was added\ngene: NYX was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: NYX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: NYX were set to Night blindness, congenital stationary (complete), 1A, X-linked, 310500",
"entity_name": "NYX",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:26.381313+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRIT3 was added\ngene: LRIT3 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: LRIT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRIT3 were set to Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058",
"entity_name": "LRIT3",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:26.335046+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRM6 was added\ngene: GRM6 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: GRM6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GRM6 were set to Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270",
"entity_name": "GRM6",
"entity_type": "gene"
},
{
"created": "2021-10-06T18:20:26.285595+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRK1 was added\ngene: GRK1 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: GRK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GRK1 were set to Oguchi disease-2, 613411",
"entity_name": "GRK1",
"entity_type": "gene"
}
]
}