{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=587","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=585","results":[{"created":"2023-06-22T08:27:07.406991+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.176","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: DAO as Red List (low evidence)","entity_name":"DAO","entity_type":"gene"},{"created":"2023-06-22T08:27:07.403022+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.176","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Refuted gene-disease validity assessment by ClinGen ALS spectrum disorders GCEP - 21/04/2022","entity_name":"DAO","entity_type":"gene"},{"created":"2023-06-22T08:27:07.387406+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.176","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dao has been classified as Red List (Low Evidence).","entity_name":"DAO","entity_type":"gene"},{"created":"2023-06-22T08:26:37.830200+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.176","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: DAO as Red List (low evidence)","entity_name":"DAO","entity_type":"gene"},{"created":"2023-06-22T08:26:37.810154+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.176","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Refuted gene-disease vailidity assessment by ClinGen ALS spectrum disorders GCEP - 21/04/2022","entity_name":"DAO","entity_type":"gene"},{"created":"2023-06-22T08:26:37.714535+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.176","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dao has been classified as Red List (Low Evidence).","entity_name":"DAO","entity_type":"gene"},{"created":"2023-06-22T08:23:28.712354+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.160","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CCNF as Amber List (moderate evidence)","entity_name":"CCNF","entity_type":"gene"},{"created":"2023-06-22T08:23:28.699578+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.160","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Limited gene-disease validity assessment by ClinGen ALS spectrum disorders GCEP - 05/04/2022","entity_name":"CCNF","entity_type":"gene"},{"created":"2023-06-22T08:23:28.547726+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.160","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ccnf has been classified as Amber List (Moderate Evidence).","entity_name":"CCNF","entity_type":"gene"},{"created":"2023-06-22T08:22:49.384099+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.175","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CCNF as Amber List (moderate evidence)","entity_name":"CCNF","entity_type":"gene"},{"created":"2023-06-22T08:22:49.379031+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.175","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Limited gene-disease validity assessment by ClinGen ALS spectrum disorders GCEP - 05/04/2022","entity_name":"CCNF","entity_type":"gene"},{"created":"2023-06-22T08:22:49.350171+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.175","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ccnf has been classified as Amber List (Moderate Evidence).","entity_name":"CCNF","entity_type":"gene"},{"created":"2023-06-22T08:18:01.329429+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.174","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ARPP21 was added\ngene: ARPP21 was added to Motor Neurone Disease. Sources: ClinGen\nMode of inheritance for gene: ARPP21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARPP21 were set to 30811981; 31653410; 35525134\nPhenotypes for gene: ARPP21 were set to amyotrophic lateral sclerosis MONDO:0004976\nReview for gene: ARPP21 was set to RED\nAdded comment: Limited gene-disease validity classification by ClinGen ALS spectrum disorders GCEP - 10/01/2023 \nSources: ClinGen","entity_name":"ARPP21","entity_type":"gene"},{"created":"2023-06-22T08:10:40.201864+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.173","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ANG as Red List (low evidence)","entity_name":"ANG","entity_type":"gene"},{"created":"2023-06-22T08:10:40.186917+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.173","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ang has been classified as Red List (Low Evidence).","entity_name":"ANG","entity_type":"gene"},{"created":"2023-06-22T08:09:12.222766+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.172","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their comment","entity_name":"ANG","entity_type":"gene"},{"created":"2023-06-22T08:00:18.453275+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.172","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ANG as Amber List (moderate evidence)","entity_name":"ANG","entity_type":"gene"},{"created":"2023-06-22T08:00:18.447880+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.172","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Limited gene-disease validity classification by ClinGen ALS GCEP - 08/02/2022","entity_name":"ANG","entity_type":"gene"},{"created":"2023-06-22T08:00:18.416268+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.172","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ang has been classified as Amber List (Moderate Evidence).","entity_name":"ANG","entity_type":"gene"},{"created":"2023-06-22T07:59:20.219000+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.171","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ANG as Amber List (moderate evidence)","entity_name":"ANG","entity_type":"gene"},{"created":"2023-06-22T07:59:20.209582+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.171","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Limited gene-disease validity classification by ClinGen ALS GCEP - 08/02/2022","entity_name":"ANG","entity_type":"gene"},{"created":"2023-06-22T07:59:20.159549+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.171","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ang has been classified as Amber List (Moderate Evidence).","entity_name":"ANG","entity_type":"gene"},{"created":"2023-06-22T07:29:38.696560+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.170","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: SPTLC1 as ready","entity_name":"SPTLC1","entity_type":"gene"},{"created":"2023-06-22T07:29:38.682619+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.170","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: sptlc1 has been classified as Green List (High Evidence).","entity_name":"SPTLC1","entity_type":"gene"},{"created":"2023-06-22T07:29:20.093396+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.170","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SPTLC1 as Green List (high evidence)","entity_name":"SPTLC1","entity_type":"gene"},{"created":"2023-06-22T07:29:20.079916+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.170","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: sptlc1 has been classified as Green List (High Evidence).","entity_name":"SPTLC1","entity_type":"gene"},{"created":"2023-06-22T07:27:11.488021+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.169","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SPTLC1 was added\ngene: SPTLC1 was added to Motor Neurone Disease. Sources: Literature\nMode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SPTLC1 were set to 34059824; 35900868; 34459874\nPhenotypes for gene: SPTLC1 were set to juvenile amyotrophic lateral sclerosis MONDO:0017593\nMode of pathogenicity for gene: SPTLC1 was set to Other\nReview for gene: SPTLC1 was set to GREEN\nAdded comment: At least 10 unrelated probands/families reported with typically juvenile-onset ALS with missense or in-frame indels. Supporting in vitro functional assays demonstrate the mechanism of disease results in unregulated SPT activity and elevated levels of canonical SPT products, in contrast to the mechanism of disease for SPTLC1 variants that cause hereditary sensory and autonomic neuropathy (shift SPT amino acid usage from serine to alanine, resulting in elevated levels of deoxysphingolipids). \nSources: Literature","entity_name":"SPTLC1","entity_type":"gene"},{"created":"2023-06-22T06:59:27.539854+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.944","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"reviewed gene: STAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28296084, 29263825, 30158690, 31334757, 33014403, 37010288; Phenotypes: Holoprosencephaly 13, X-linked, OMIM:301043, Mullegama-Klein-Martinez syndrome, OMIM:301022; 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":"STAG2","entity_type":"gene"},{"created":"2023-06-22T05:56:31.246019+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.944","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"reviewed gene: SMARCA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25168959, 37010288; Phenotypes: Coffin-Siris syndrome 4, OMIM:614609; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SMARCA4","entity_type":"gene"},{"created":"2023-06-21T20:23:33.599083+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.168","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: SMN1 as ready","entity_name":"SMN1","entity_type":"gene"},{"created":"2023-06-21T20:23:33.590952+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.168","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: smn1 has been classified as Green List (High Evidence).","entity_name":"SMN1","entity_type":"gene"},{"created":"2023-06-21T20:23:10.276125+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.168","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SMN1 as Green List (high evidence)","entity_name":"SMN1","entity_type":"gene"},{"created":"2023-06-21T20:23:10.262217+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.168","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: smn1 has been classified as Green List (High Evidence).","entity_name":"SMN1","entity_type":"gene"},{"created":"2023-06-21T20:00:52.386377+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.166","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SMN1 was added\ngene: SMN1 was added to Motor Neurone Disease. Sources: Literature\nMode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMN1 were set to 20301623\nPhenotypes for gene: SMN1 were set to Spinal muscular atrophy-1, MIM# 253300\nAdded comment: Differential diagnosis for ALS \nSources: Literature","entity_name":"SMN1","entity_type":"gene"},{"created":"2023-06-21T16:45:08.392944+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.944","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: XYLT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"XYLT1","entity_type":"gene"},{"created":"2023-06-21T03:53:33.055039+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.943","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"changed review comment from: Although there are more than three unrelated cases reported with either cleft palate or bifid uvula in total, this phenotype is not consistently present in patients with monoallelic variants in POGZ gene. Hence, this gene should only be added with amber rating in 'Clefting disorders panel'.\r\n\r\nPMID:26739615 - Five unrelated individuals were identified with de novo truncating variants in POGZ gene, of which one individual had cleft palate and another one had bifid uvula.\r\n\r\nPMID:31782611 - In this cohort of 22 individuals with 21 different loss of function variants in POGZ, two patients were reported with bifid uvula.\r\n\r\nDECIPHER database - Of 42 patients with heterozygous sequence variants, one had cleft palate and another one had bifid uvula (PMID:37010288).\r\n\r\nThe OMIM entry for White-Sutton syndrome (MIM #616364) does not currently include cleft lip/ palate as one of the clinical manifestations of this syndrome.; to: Although there are more than three unrelated cases reported with either cleft palate or bifid uvula in total, this phenotype is not consistently present in patients with monoallelic variants in POGZ gene. Hence, this gene should only be added with amber rating in 'Clefting disorders' panel.\r\n\r\nPMID:26739615 - Five unrelated individuals were identified with de novo truncating variants in POGZ gene, of which one individual had cleft palate and another one had bifid uvula.\r\n\r\nPMID:31782611 - In this cohort of 22 individuals with 21 different loss of function variants in POGZ, two patients were reported with bifid uvula.\r\n\r\nDECIPHER database - Of 42 patients with heterozygous sequence variants, one had cleft palate and another one had bifid uvula (PMID:37010288).\r\n\r\nThe OMIM entry for White-Sutton syndrome (MIM #616364) does not currently include cleft lip/ palate as one of the clinical manifestations of this syndrome.","entity_name":"POGZ","entity_type":"gene"},{"created":"2023-06-21T03:53:08.445042+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.943","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"reviewed gene: POGZ: Rating: AMBER; Mode of pathogenicity: None; Publications: 26739615, 31782611, 37010288; Phenotypes: White-Sutton syndrome, OMIM:616364; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"POGZ","entity_type":"gene"},{"created":"2023-06-20T13:57:38.881965+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.88","user_name":"Luisa Weiss","item_type":"entity","text":"gene: TUBB2A was added\ngene: TUBB2A was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: TUBB2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TUBB2A were set to 33528536; 24702957\nPhenotypes for gene: TUBB2A were set to Cortical dysplasia, complex, with other brain malformations MIM# 615763\nReview for gene: TUBB2A was set to GREEN\nAdded comment: 4 individual cases in one large CP cohort study, all of them with de novo missense mutations, Note that 2/4 mutations are p.A248V, which has also been described in a nonverbal and nonambulatory girl with generalized hypotonia and mild brain malformations (dysmorphic corpus callosum). Cushion et al. (PMID 24702957) also did functional work on this variant showing is had an impaired ability to coassemble with endogenous alpha-tubulin subunits and integrate into microtubule polymers. \nSources: Literature","entity_name":"TUBB2A","entity_type":"gene"},{"created":"2023-06-20T13:45:32.732787+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.88","user_name":"Luisa Weiss","item_type":"entity","text":"gene: TUBB3 was added\ngene: TUBB3 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TUBB3 were set to 33528536\nPhenotypes for gene: TUBB3 were set to Cortical dysplasia, complex, with other brain malformations MIM#614039; Fibrosis of extraocular muscles, congenital MIM#600638\nReview for gene: TUBB3 was set to GREEN\nAdded comment: 4 individual cases in one large CP cohort study, all with de novo missense mutations predicted to be pathogenic. \nSources: Literature","entity_name":"TUBB3","entity_type":"gene"},{"created":"2023-06-20T11:07:36.109158+10:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.22","user_name":"Shekeeb Mohammad","item_type":"entity","text":"gene: ATP7B was added\ngene: ATP7B was added to Neuroferritinopathies. Sources: Literature,Expert list\nMode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP7B were set to 27543917; 28376267\nPhenotypes for gene: ATP7B were set to dystonia; parkinsonism; psychosis; liver failure; pancreatitis; renal tubular acidosis; dysarthria; dysphagia\ngene: ATP7B was marked as current diagnostic","entity_name":"ATP7B","entity_type":"gene"},{"created":"2023-06-20T11:04:10.554442+10:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.22","user_name":"Shekeeb Mohammad","item_type":"entity","text":"gene: AP4M1 was added\ngene: AP4M1 was added to Neuroferritinopathies. Sources: Literature,Expert list\nMode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP4M1 were set to 29473051\nPhenotypes for gene: AP4M1 were set to progressive spastic tetraparesis; microcephaly; intellectual disabiliy; growth retardation; epilepsy; peripheral neuropathy; brain iron deposition\nReview for gene: AP4M1 was set to GREEN\ngene: AP4M1 was marked as current diagnostic\nAdded comment: Sources: Literature, Expert list","entity_name":"AP4M1","entity_type":"gene"},{"created":"2023-06-20T10:56:35.542064+10:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.22","user_name":"Shekeeb Mohammad","item_type":"entity","text":"gene: AP1S2 was added\ngene: AP1S2 was added to Neuroferritinopathies. Sources: Expert list,Literature\nMode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: AP1S2 were set to 23756445\nPhenotypes for gene: AP1S2 were set to spasticity; hypotonia; intellectual disability; posterior fossa malformation; brain iron deposition\nPenetrance for gene: AP1S2 were set to Complete\nReview for gene: AP1S2 was set to GREEN\nAdded comment: Sources: Expert list, Literature","entity_name":"AP1S2","entity_type":"gene"},{"created":"2023-06-20T09:26:44.623584+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"1.0","user_name":"Bryony Thompson","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2023-06-20T09:26:16.588499+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"0.49","user_name":"Bryony Thompson","item_type":"panel","text":"Panel status changed from internal to public\nPanel types changed to Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2023-06-20T04:12:41.195957+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.943","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"reviewed gene: PGAP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28390064, 37010288; Phenotypes: Hyperphosphatasia with impaired intellectual development syndrome 4, OMIM:615716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PGAP3","entity_type":"gene"},{"created":"2023-06-20T03:05:55.333895+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.943","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"reviewed gene: KMT2A: Rating: AMBER; Mode of pathogenicity: None; Publications: 25929198, 30305169, 31710778, 37010288; Phenotypes: Wiedemann-Steiner syndrome, OMIM:605130; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KMT2A","entity_type":"gene"},{"created":"2023-06-20T01:55:34.346950+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.196","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"reviewed gene: KAT6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 32424177, 37010288; Phenotypes: Genitopatellar syndrome, OMIM:606170, SBBYSS syndrome, OMIM:603736; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KAT6B","entity_type":"gene"},{"created":"2023-06-19T20:16:44.770934+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.943","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"reviewed gene: GLI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24744436, 37010288; Phenotypes: Culler-Jones syndrome, OMIM:615849, Holoprosencephaly 9, OMIM:610829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GLI2","entity_type":"gene"},{"created":"2023-06-19T17:21:38.867636+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.18","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SMAD4 as Red List (low evidence)","entity_name":"SMAD4","entity_type":"gene"},{"created":"2023-06-19T17:21:38.862477+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.18","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Disputed classification by ClinGen PH GCEP 21/11/2022","entity_name":"SMAD4","entity_type":"gene"},{"created":"2023-06-19T17:21:38.826683+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.18","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: smad4 has been classified as Red List (Low Evidence).","entity_name":"SMAD4","entity_type":"gene"},{"created":"2023-06-19T17:20:45.825928+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.17","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SMAD1 as Red List (low evidence)","entity_name":"SMAD1","entity_type":"gene"},{"created":"2023-06-19T17:20:45.822269+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.17","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Disputed gene curation by ClinGen PH VCEP 21/11/2022","entity_name":"SMAD1","entity_type":"gene"},{"created":"2023-06-19T17:20:45.802033+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.17","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: smad1 has been classified as Red List (Low Evidence).","entity_name":"SMAD1","entity_type":"gene"},{"created":"2023-06-19T17:15:30.853103+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.16","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GGCX as ready","entity_name":"GGCX","entity_type":"gene"},{"created":"2023-06-19T17:15:30.842970+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.16","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ggcx has been classified as Amber List (Moderate Evidence).","entity_name":"GGCX","entity_type":"gene"},{"created":"2023-06-19T17:15:25.508025+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.16","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GGCX as Amber List (moderate evidence)","entity_name":"GGCX","entity_type":"gene"},{"created":"2023-06-19T17:15:25.500073+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.16","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ggcx has been classified as Amber List (Moderate Evidence).","entity_name":"GGCX","entity_type":"gene"},{"created":"2023-06-19T17:15:16.112667+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.15","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GGCX was added\ngene: GGCX was added to Pulmonary Arterial Hypertension. Sources: ClinGen\nMode of inheritance for gene: GGCX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GGCX were set to 31727138\nPhenotypes for gene: GGCX were set to pulmonary arterial hypertension MONDO:0015924\nReview for gene: GGCX was set to AMBER\nAdded comment: Moderate gene-disease validity classification by the pulmonary hypertension GCEP (4/11/2022). All the genetic evidence is based on one study conducting a gene-based association analysis using 812 European IPAH cases and 12,771 European controls. There were 18 probands with GGCX variants identified. \nSources: ClinGen","entity_name":"GGCX","entity_type":"gene"},{"created":"2023-06-19T16:39:49.902493+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"0.48","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ANTXR2 as ready","entity_name":"ANTXR2","entity_type":"gene"},{"created":"2023-06-19T16:39:49.893726+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"0.48","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: antxr2 has been classified as Green List (High Evidence).","entity_name":"ANTXR2","entity_type":"gene"},{"created":"2023-06-19T16:36:40.087744+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"0.48","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ANTXR2 as Green List (high evidence)","entity_name":"ANTXR2","entity_type":"gene"},{"created":"2023-06-19T16:36:40.069944+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"0.48","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: antxr2 has been classified as Green List (High Evidence).","entity_name":"ANTXR2","entity_type":"gene"},{"created":"2023-06-19T16:36:33.588235+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"0.47","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ANTXR2 was added\ngene: ANTXR2 was added to Facial papules. Sources: Literature\nMode of inheritance for gene: ANTXR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ANTXR2 were set to 20301698\nPhenotypes for gene: ANTXR2 were set to hyaline fibromatosis syndrome MONDO:0009229\nReview for gene: ANTXR2 was set to GREEN\ngene: ANTXR2 was marked as current diagnostic\nAdded comment: Coarse facies and pearly papules on the face are common features of the condition. \nSources: Literature","entity_name":"ANTXR2","entity_type":"gene"},{"created":"2023-06-19T16:34:19.576657+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"0.46","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: IDS as ready","entity_name":"IDS","entity_type":"gene"},{"created":"2023-06-19T16:34:19.567708+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"0.46","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ids has been classified as Green List (High Evidence).","entity_name":"IDS","entity_type":"gene"},{"created":"2023-06-19T16:28:11.057709+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"0.46","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: IDS as Green List (high evidence)","entity_name":"IDS","entity_type":"gene"},{"created":"2023-06-19T16:28:11.037447+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"0.46","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ids has been classified as Green List (High Evidence).","entity_name":"IDS","entity_type":"gene"},{"created":"2023-06-19T16:28:04.265379+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"0.45","user_name":"Bryony Thompson","item_type":"entity","text":"gene: IDS was added\ngene: IDS was added to Facial papules. Sources: Expert list\nMode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: IDS were set to 20301451\nPhenotypes for gene: IDS were set to Mucopolysaccharidosis type 2 MONDO:0010674\nReview for gene: IDS was set to GREEN\ngene: IDS was marked as current diagnostic\nAdded comment: Coarse facies is a feature of mucopolysaccharidosis type 2 \nSources: Expert list","entity_name":"IDS","entity_type":"gene"},{"created":"2023-06-19T16:23:17.378101+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"0.44","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: IDUA as ready","entity_name":"IDUA","entity_type":"gene"},{"created":"2023-06-19T16:23:17.362419+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"0.44","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: idua has been classified as Green List (High Evidence).","entity_name":"IDUA","entity_type":"gene"},{"created":"2023-06-19T16:21:31.388328+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"0.44","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: IDUA as Green List (high evidence)","entity_name":"IDUA","entity_type":"gene"},{"created":"2023-06-19T16:21:31.375330+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"0.44","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: idua has been classified as Green List (High Evidence).","entity_name":"IDUA","entity_type":"gene"},{"created":"2023-06-19T16:21:25.457167+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"0.43","user_name":"Bryony Thompson","item_type":"entity","text":"gene: IDUA was added\ngene: IDUA was added to Facial papules. Sources: Expert list\nMode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IDUA were set to 20301341\nPhenotypes for gene: IDUA were set to Mucopolysaccharidosis type 1 MONDO:0001586\nReview for gene: IDUA was set to GREEN\ngene: IDUA was marked as current diagnostic\nAdded comment: Coarse facies is prevalent in severe mucopolysaccharidosis and can be present to a lesser degree in attenuated mucopolysaccharidosis. \nSources: Expert list","entity_name":"IDUA","entity_type":"gene"},{"created":"2023-06-19T16:16:27.346211+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.88","user_name":"Luisa Weiss","item_type":"entity","text":"gene: MSL3 was added\ngene: MSL3 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: MSL3 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: MSL3 were set to 33173220\nPhenotypes for gene: MSL3 were set to Basilicata-Akhtar syndrome MIM#301032\nReview for gene: MSL3 was set to GREEN\nAdded comment: Brunet et al. defined the clinical phenotype of 25 patients with MSL3 mutations, three of which had initially been diagnosed as having cerebral palsy. \nSources: Literature","entity_name":"MSL3","entity_type":"gene"},{"created":"2023-06-19T16:07:19.130157+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.88","user_name":"Luisa Weiss","item_type":"entity","text":"gene: MOCS2 was added\ngene: MOCS2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MOCS2 were set to 33528536; 22759696\nPhenotypes for gene: MOCS2 were set to Molybdenum cofactor deficiency B\tMIM#252160\nReview for gene: MOCS2 was set to GREEN\nAdded comment: Two patients in a large CP cohort presenting with cerebral palsy. In addition one case report with a patient initially diagnosed as having CP and later found to have biallelic MOCS2 mutations. \nSources: Literature","entity_name":"MOCS2","entity_type":"gene"},{"created":"2023-06-19T16:01:24.897677+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.88","user_name":"Luisa Weiss","item_type":"entity","text":"reviewed gene: MOCS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 34788679, 27289259; Phenotypes: Molybdenum cofactor deficiency A MIM#252150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MOCS1","entity_type":"gene"},{"created":"2023-06-19T15:55:52.648544+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.88","user_name":"Luisa Weiss","item_type":"entity","text":"Deleted their review","entity_name":"MOCS1","entity_type":"gene"},{"created":"2023-06-19T15:34:27.086320+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.88","user_name":"Luisa Weiss","item_type":"entity","text":"gene: MEF2C was added\ngene: MEF2C was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: MEF2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MEF2C were set to 20412115; 25817843; 33528536\nPhenotypes for gene: MEF2C were set to Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language MIM#613443\nReview for gene: MEF2C was set to GREEN\nAdded comment: Two patients in two large CP cohort studies with MEF2C mutations/deletions. In addition, one case report of two patients with MEF2C mutation with one of them diagnosed as having CP. \nSources: Literature","entity_name":"MEF2C","entity_type":"gene"},{"created":"2023-06-19T15:14:32.089386+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.88","user_name":"Luisa Weiss","item_type":"entity","text":"gene: MOCS1 was added\ngene: MOCS1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MOCS1 were set to 22759696; 34788679\nPhenotypes for gene: MOCS1 were set to Molybdenum cofactor deficiency A\tMIM#252150\nReview for gene: MOCS1 was set to AMBER\nAdded comment: One patient described in a case report diagnosed with cerebral palsy and later re-diagnosed as having molybdenum cofactor deficiency. In addition one more patient in a large CP cohort with biallelic MOCS1 mutation. \nSources: Literature","entity_name":"MOCS1","entity_type":"gene"},{"created":"2023-06-19T13:52:26.401673+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.88","user_name":"Luisa Weiss","item_type":"entity","text":"gene: MCOLN1 was added\ngene: MCOLN1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCOLN1 were set to 12182165; 21763169\nPhenotypes for gene: MCOLN1 were set to Mucolipidosis IV MIM#252650\nReview for gene: MCOLN1 was set to GREEN\nAdded comment: PMID 12182165 presents a case study of 28 patients with Mucolipidosis Type IV. A significant clinical overlap with CP-like encephalopathy is discussed and some of the patients are reported to present with a 'pure non-progressive neurologic deficit'. Other Mucolipidosis Type IV overviews (PMID 21763169) also discuss the clinical similarities and the phenotypic overlap between MLIV and CP. \nSources: Literature","entity_name":"MCOLN1","entity_type":"gene"},{"created":"2023-06-19T12:28:36.648201+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"0.42","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: MLH1 were changed from Lynch syndrome MONDO:0005835 to Lynch syndrome MONDO:0005835; Muir-Torre syndrome MONDO:0008018","entity_name":"MLH1","entity_type":"gene"},{"created":"2023-06-19T12:28:27.650051+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"0.41","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: MSH2 as ready","entity_name":"MSH2","entity_type":"gene"},{"created":"2023-06-19T12:28:27.623339+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"0.41","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: msh2 has been classified as Green List (High Evidence).","entity_name":"MSH2","entity_type":"gene"},{"created":"2023-06-19T12:28:24.577016+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"0.41","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MSH2 as Green List (high evidence)","entity_name":"MSH2","entity_type":"gene"},{"created":"2023-06-19T12:28:24.567792+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"0.41","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: msh2 has been classified as Green List (High Evidence).","entity_name":"MSH2","entity_type":"gene"},{"created":"2023-06-19T12:28:15.967774+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"0.40","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MSH2 was added\ngene: MSH2 was added to Facial papules. Sources: Expert list\nMode of inheritance for gene: MSH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MSH2 were set to 20301390; 11231323; 14994245; 15235030; 8931714; 8751876; 9634524\nPhenotypes for gene: MSH2 were set to Lynch syndrome MONDO:0005835; Muir-Torre syndrome MONDO:0008018\nReview for gene: MSH2 was set to GREEN\ngene: MSH2 was marked as current diagnostic\nAdded comment: The Lynch syndrome variant Muir-Torre syndrome includes sebaceous neoplasms of the skin (including the face) as a main feature of the condition. \nSources: Expert list","entity_name":"MSH2","entity_type":"gene"},{"created":"2023-06-19T12:26:35.453356+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"0.39","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: MLH1 as ready","entity_name":"MLH1","entity_type":"gene"},{"created":"2023-06-19T12:26:35.433993+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"0.39","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mlh1 has been classified as Green List (High Evidence).","entity_name":"MLH1","entity_type":"gene"},{"created":"2023-06-19T12:24:03.376665+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"0.39","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MLH1 as Green List (high evidence)","entity_name":"MLH1","entity_type":"gene"},{"created":"2023-06-19T12:24:03.353940+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"0.39","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mlh1 has been classified as Green List (High Evidence).","entity_name":"MLH1","entity_type":"gene"},{"created":"2023-06-19T12:23:53.954301+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"0.38","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MLH1 was added\ngene: MLH1 was added to Facial papules. Sources: Expert list\nMode of inheritance for gene: MLH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MLH1 were set to 20301390; 11231323; 14994245; 15235030; 8931714; 8751876; 9634524\nPhenotypes for gene: MLH1 were set to Lynch syndrome MONDO:0005835\nReview for gene: MLH1 was set to GREEN\ngene: MLH1 was marked as current diagnostic\nAdded comment: The Lynch syndrome variant Muir-Torre syndrome includes sebaceous neoplasms of the skin (including the face) as a main feature of the condition. \nSources: Expert list","entity_name":"MLH1","entity_type":"gene"},{"created":"2023-06-19T12:15:31.908761+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"0.37","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FH as ready","entity_name":"FH","entity_type":"gene"},{"created":"2023-06-19T12:15:31.900643+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"0.37","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fh has been classified as Green List (High Evidence).","entity_name":"FH","entity_type":"gene"},{"created":"2023-06-19T12:15:29.160884+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"0.37","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: FH as Green List (high evidence)","entity_name":"FH","entity_type":"gene"},{"created":"2023-06-19T12:15:29.149496+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"0.37","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fh has been classified as Green List (High Evidence).","entity_name":"FH","entity_type":"gene"},{"created":"2023-06-19T12:15:20.112826+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"0.36","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FH was added\ngene: FH was added to Facial papules. Sources: Expert list\nMode of inheritance for gene: FH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FH were set to 20301430\nPhenotypes for gene: FH were set to Hereditary leiomyomatosis and renal cell cancer MONDO:0007888\nReview for gene: FH was set to GREEN\ngene: FH was marked as current diagnostic\nAdded comment: Cutaneous leiomyomata appear as skin-coloured to light-brown papules as a feature of FH tumour predisposition syndrome and can occasionally occur on the face. \nSources: Expert list","entity_name":"FH","entity_type":"gene"},{"created":"2023-06-19T11:59:43.154644+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"0.35","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PTEN as ready","entity_name":"PTEN","entity_type":"gene"},{"created":"2023-06-19T11:59:43.138749+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"0.35","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pten has been classified as Green List (High Evidence).","entity_name":"PTEN","entity_type":"gene"},{"created":"2023-06-19T11:59:38.986539+10:00","panel_name":"Facial papules","panel_id":4093,"panel_version":"0.35","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PTEN as Green List (high evidence)","entity_name":"PTEN","entity_type":"gene"}]}