{"count":220771,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=989","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=987","results":[{"created":"2022-02-17T18:01:06.112887+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3617","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Only two families with ID reported; third individual had paroxysmal dyskinesia.; to: Clinical presentation is typically post-natal.","entity_name":"DLAT","entity_type":"gene"},{"created":"2022-02-17T18:00:46.516065+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3617","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DLAT: Changed rating: RED","entity_name":"DLAT","entity_type":"gene"},{"created":"2022-02-17T18:00:04.053016+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3617","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DEAF1 as ready","entity_name":"DEAF1","entity_type":"gene"},{"created":"2022-02-17T18:00:04.028703+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3617","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: deaf1 has been classified as Green List (High Evidence).","entity_name":"DEAF1","entity_type":"gene"},{"created":"2022-02-17T17:59:57.569593+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3617","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DEAF1 were changed from Autism, intellectual disability, basal ganglia dysfunction and epilepsy; MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 to Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures 617171; Vulto-van Silfout-de Vries syndrome 615828","entity_name":"DEAF1","entity_type":"gene"},{"created":"2022-02-17T17:59:43.075885+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3616","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DEAF1 were set to ","entity_name":"DEAF1","entity_type":"gene"},{"created":"2022-02-17T17:59:31.512200+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3615","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DEAF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DEAF1","entity_type":"gene"},{"created":"2022-02-17T17:59:21.371593+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3614","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DEAF1 as Green List (high evidence)","entity_name":"DEAF1","entity_type":"gene"},{"created":"2022-02-17T17:59:21.362034+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3614","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: deaf1 has been classified as Green List (High Evidence).","entity_name":"DEAF1","entity_type":"gene"},{"created":"2022-02-17T17:59:09.664412+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3613","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Bi-allelic disease is through LOF mechanism (PTVs and missense). Mono-allelic disease described in association with de novo missense variants only.\r\n\r\nLOF and Dominant-negative\r\n- De novo missense in the SAND domain tend to have a dominant-negative effect\r\n- Biallelic variants in the SAND domain lead to partial loss of function - missense (reduced function), NMD (haploinsufficiency)\r\n- Heterozygous deletions have no phenotype.; to: Bi-allelic disease is through LOF mechanism (PTVs and missense). Mono-allelic disease described in association with de novo missense variants only.\r\n\r\nLOF and Dominant-negative\r\n- De novo missense in the SAND domain tend to have a dominant-negative effect\r\n- Biallelic variants in the SAND domain lead to partial loss of function - missense (reduced function), NMD (haploinsufficiency)\r\n- Heterozygous deletions have no phenotype.\r\n\r\nBrain abnormalities on imaging, particularly with AD disorder.","entity_name":"DEAF1","entity_type":"gene"},{"created":"2022-02-17T17:57:03.623247+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3613","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ST3GAL5 as ready","entity_name":"ST3GAL5","entity_type":"gene"},{"created":"2022-02-17T17:57:03.608989+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3613","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: st3gal5 has been classified as Red List (Low Evidence).","entity_name":"ST3GAL5","entity_type":"gene"},{"created":"2022-02-17T17:56:59.774795+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3613","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ST3GAL5 were changed from AMISH INFANTILE EPILEPSY SYNDROME to Salt and pepper developmental regression syndrome; OMIM #609056","entity_name":"ST3GAL5","entity_type":"gene"},{"created":"2022-02-17T17:56:45.408734+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3612","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ST3GAL5 were set to ","entity_name":"ST3GAL5","entity_type":"gene"},{"created":"2022-02-17T17:56:33.183149+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3611","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ST3GAL5 as Red List (low evidence)","entity_name":"ST3GAL5","entity_type":"gene"},{"created":"2022-02-17T17:56:33.170574+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3611","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: st3gal5 has been classified as Red List (Low Evidence).","entity_name":"ST3GAL5","entity_type":"gene"},{"created":"2022-02-17T17:56:13.833244+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3610","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterised by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss. Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood. Although initially reported in the Amish (founder variant p.Arg288Ter), families from other ethnicities have also been reported.; to: Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterised by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss. Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood. Although initially reported in the Amish (founder variant p.Arg288Ter), families from other ethnicities have also been reported.\r\n\r\nClinical presentation is typically post-natal.","entity_name":"ST3GAL5","entity_type":"gene"},{"created":"2022-02-17T17:56:01.685160+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3610","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ST3GAL5: Changed rating: RED","entity_name":"ST3GAL5","entity_type":"gene"},{"created":"2022-02-17T17:54:47.436857+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3610","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RSPRY1 as ready","entity_name":"RSPRY1","entity_type":"gene"},{"created":"2022-02-17T17:54:47.419620+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3610","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rspry1 has been classified as Amber List (Moderate Evidence).","entity_name":"RSPRY1","entity_type":"gene"},{"created":"2022-02-17T17:54:43.385114+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3610","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RSPRY1 were changed from PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585","entity_name":"RSPRY1","entity_type":"gene"},{"created":"2022-02-17T17:54:26.335273+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3609","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RSPRY1 were set to ","entity_name":"RSPRY1","entity_type":"gene"},{"created":"2022-02-17T17:50:41.898142+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3608","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Two unrelated individuals reported, some functional evidence. Dev delay/autism part of the phenotype.\r\nSources: Expert list; to: Two unrelated individuals reported, some functional evidence. Multiple skeletal anomalies.\r\nSources: Expert list","entity_name":"RSPRY1","entity_type":"gene"},{"created":"2022-02-17T15:30:18.822836+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3608","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RSPH9 as ready","entity_name":"RSPH9","entity_type":"gene"},{"created":"2022-02-17T15:30:18.812436+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3608","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsph9 has been classified as Red List (Low Evidence).","entity_name":"RSPH9","entity_type":"gene"},{"created":"2022-02-17T15:30:10.747409+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3608","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RSPH9 were changed from Ciliary dyskinesia, primary 612650 to Ciliary dyskinesia, primary, MIM# 612650","entity_name":"RSPH9","entity_type":"gene"},{"created":"2022-02-17T15:29:58.068008+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3607","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RSPH9 were set to ","entity_name":"RSPH9","entity_type":"gene"},{"created":"2022-02-17T15:29:39.800129+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3606","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RSPH9 as Red List (low evidence)","entity_name":"RSPH9","entity_type":"gene"},{"created":"2022-02-17T15:29:39.788872+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3606","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsph9 has been classified as Red List (Low Evidence).","entity_name":"RSPH9","entity_type":"gene"},{"created":"2022-02-17T15:27:03.910293+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3605","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RSPH4A as ready","entity_name":"RSPH4A","entity_type":"gene"},{"created":"2022-02-17T15:27:03.898352+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3605","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsph4a has been classified as Red List (Low Evidence).","entity_name":"RSPH4A","entity_type":"gene"},{"created":"2022-02-17T15:26:58.976926+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3605","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RSPH4A were set to ","entity_name":"RSPH4A","entity_type":"gene"},{"created":"2022-02-17T15:26:46.123137+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3604","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RSPH4A as Red List (low evidence)","entity_name":"RSPH4A","entity_type":"gene"},{"created":"2022-02-17T15:26:46.113938+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3604","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsph4a has been classified as Red List (Low Evidence).","entity_name":"RSPH4A","entity_type":"gene"},{"created":"2022-02-17T15:26:18.049371+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3603","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RRAS2 as ready","entity_name":"RRAS2","entity_type":"gene"},{"created":"2022-02-17T15:26:18.036764+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3603","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rras2 has been classified as Green List (High Evidence).","entity_name":"RRAS2","entity_type":"gene"},{"created":"2022-02-17T15:26:13.252236+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3603","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RRAS2 were set to ","entity_name":"RRAS2","entity_type":"gene"},{"created":"2022-02-17T15:25:55.683445+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3602","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RRAS2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RRAS2","entity_type":"gene"},{"created":"2022-02-17T15:25:46.288565+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3601","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RRAS2 as Green List (high evidence)","entity_name":"RRAS2","entity_type":"gene"},{"created":"2022-02-17T15:25:46.279297+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3601","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rras2 has been classified as Green List (High Evidence).","entity_name":"RRAS2","entity_type":"gene"},{"created":"2022-02-17T15:25:20.702187+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3600","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RRAS as ready","entity_name":"RRAS","entity_type":"gene"},{"created":"2022-02-17T15:25:20.692977+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3600","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rras has been classified as Amber List (Moderate Evidence).","entity_name":"RRAS","entity_type":"gene"},{"created":"2022-02-17T15:25:14.904493+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3600","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RRAS were changed from ATYPICAL NOONAN SYNDROME to Noonan syndrome","entity_name":"RRAS","entity_type":"gene"},{"created":"2022-02-17T15:24:58.197078+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3599","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RRAS were set to ","entity_name":"RRAS","entity_type":"gene"},{"created":"2022-02-17T15:24:46.440026+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3598","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RRAS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RRAS","entity_type":"gene"},{"created":"2022-02-17T15:24:16.668146+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3597","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPS7 as ready","entity_name":"RPS7","entity_type":"gene"},{"created":"2022-02-17T15:24:16.656992+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3597","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rps7 has been classified as Green List (High Evidence).","entity_name":"RPS7","entity_type":"gene"},{"created":"2022-02-17T15:24:11.777243+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3597","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RPS7 were set to ","entity_name":"RPS7","entity_type":"gene"},{"created":"2022-02-17T15:23:53.909736+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3596","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RPS7 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RPS7","entity_type":"gene"},{"created":"2022-02-17T15:23:42.951485+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3595","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPS7 as Green List (high evidence)","entity_name":"RPS7","entity_type":"gene"},{"created":"2022-02-17T15:23:42.940212+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3595","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rps7 has been classified as Green List (High Evidence).","entity_name":"RPS7","entity_type":"gene"},{"created":"2022-02-17T15:20:11.643088+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3594","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPS24 as ready","entity_name":"RPS24","entity_type":"gene"},{"created":"2022-02-17T15:20:11.633114+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3594","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rps24 has been classified as Green List (High Evidence).","entity_name":"RPS24","entity_type":"gene"},{"created":"2022-02-17T15:20:04.454389+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3594","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RPS24 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RPS24","entity_type":"gene"},{"created":"2022-02-17T15:19:54.576835+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3593","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPS24 as Green List (high evidence)","entity_name":"RPS24","entity_type":"gene"},{"created":"2022-02-17T15:19:54.565213+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3593","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rps24 has been classified as Green List (High Evidence).","entity_name":"RPS24","entity_type":"gene"},{"created":"2022-02-17T15:19:26.232637+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3592","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPS23 as ready","entity_name":"RPS23","entity_type":"gene"},{"created":"2022-02-17T15:19:26.222536+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3592","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rps23 has been classified as Amber List (Moderate Evidence).","entity_name":"RPS23","entity_type":"gene"},{"created":"2022-02-17T15:19:21.587379+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3592","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RPS23 were changed from Microcephaly, hearing loss, and dysmorphic features to Brachycephaly, trichomegaly, and developmental delay, MIM# 617412","entity_name":"RPS23","entity_type":"gene"},{"created":"2022-02-17T15:19:08.146033+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3591","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RPS23 were set to ","entity_name":"RPS23","entity_type":"gene"},{"created":"2022-02-17T15:18:56.109416+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3590","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RPS23 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RPS23","entity_type":"gene"},{"created":"2022-02-17T15:18:44.082209+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3589","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Two unrelated individuals and some functional data.; to: Two unrelated individuals and some functional data. Microcephaly; cleft palate in one.","entity_name":"RPS23","entity_type":"gene"},{"created":"2022-02-17T15:17:01.740756+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3589","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MYH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MYH3","entity_type":"gene"},{"created":"2022-02-17T15:16:48.030051+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3588","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MYH3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM #193700, Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM #618436, Contractures, pterygia, and variable skeletal fusions syndrome 1A, OMIM #178110, Contractures, pterygia, and variable skeletal fusions syndrome 1B, OMIM #618469; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MYH3","entity_type":"gene"},{"created":"2022-02-17T11:58:18.017467+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3588","user_name":"Alison Yeung","item_type":"entity","text":"Mode of inheritance for gene: MYH6 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MYH6","entity_type":"gene"},{"created":"2022-02-17T11:55:04.904111+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3587","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: MYH3 as ready","entity_name":"MYH3","entity_type":"gene"},{"created":"2022-02-17T11:55:04.893908+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3587","user_name":"Alison Yeung","item_type":"entity","text":"Gene: myh3 has been classified as Green List (High Evidence).","entity_name":"MYH3","entity_type":"gene"},{"created":"2022-02-17T11:54:46.998776+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3587","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: MYH3 were changed from DISTAL ARTHROGRYPOSIS TYPE 2A; DISTAL ARTHROGRYPOSIS TYPE 2B to Arthrogryposis, distal, type 2A (Freeman-Sheldon) MIM# 193700; Arthrogryposis, distal, type 2B3 (Sheldon-Hall) MIM# 618436; Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, MIM#178110; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, MIM# 618469","entity_name":"MYH3","entity_type":"gene"},{"created":"2022-02-17T11:53:34.270072+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3586","user_name":"Alison Yeung","item_type":"entity","text":"Publications for gene: MYH3 were set to ","entity_name":"MYH3","entity_type":"gene"},{"created":"2022-02-17T09:52:13.366356+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3585","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPL35A as ready","entity_name":"RPL35A","entity_type":"gene"},{"created":"2022-02-17T09:52:13.354997+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3585","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl35a has been classified as Green List (High Evidence).","entity_name":"RPL35A","entity_type":"gene"},{"created":"2022-02-17T09:49:05.813749+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3585","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RPL35A were set to ","entity_name":"RPL35A","entity_type":"gene"},{"created":"2022-02-17T09:47:17.570961+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3584","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RPL35A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RPL35A","entity_type":"gene"},{"created":"2022-02-17T09:46:59.827752+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3583","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPL35A as Green List (high evidence)","entity_name":"RPL35A","entity_type":"gene"},{"created":"2022-02-17T09:46:59.816457+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3583","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl35a has been classified as Green List (High Evidence).","entity_name":"RPL35A","entity_type":"gene"},{"created":"2022-02-17T09:46:29.412308+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3582","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPL10 as ready","entity_name":"RPL10","entity_type":"gene"},{"created":"2022-02-17T09:46:29.395824+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3582","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl10 has been classified as Green List (High Evidence).","entity_name":"RPL10","entity_type":"gene"},{"created":"2022-02-17T09:46:25.318938+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3582","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RPL10 were set to ","entity_name":"RPL10","entity_type":"gene"},{"created":"2022-02-17T09:46:09.787517+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3581","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPL10 as Green List (high evidence)","entity_name":"RPL10","entity_type":"gene"},{"created":"2022-02-17T09:46:09.771700+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3581","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl10 has been classified as Green List (High Evidence).","entity_name":"RPL10","entity_type":"gene"},{"created":"2022-02-17T09:45:58.388846+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3580","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: At least three families reported. Progressive microcephaly, up to -9.6 SD described. \nSources: Expert list; to: At least three families reported. Progressive microcephaly, up to -9.6 SD described. IUGR, congenital heart disease.\r\n\r\nSources: Expert list","entity_name":"RPL10","entity_type":"gene"},{"created":"2022-02-17T09:36:20.046892+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3580","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RORA as ready","entity_name":"RORA","entity_type":"gene"},{"created":"2022-02-17T09:36:20.035619+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3580","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rora has been classified as Amber List (Moderate Evidence).","entity_name":"RORA","entity_type":"gene"},{"created":"2022-02-17T09:36:16.359615+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3580","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RORA were changed from INTELLECTUAL DISABILITY to Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM#618060","entity_name":"RORA","entity_type":"gene"},{"created":"2022-02-17T09:35:56.146239+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3579","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RORA were set to ","entity_name":"RORA","entity_type":"gene"},{"created":"2022-02-17T09:35:44.443758+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3578","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: RORA was changed from Other to None","entity_name":"RORA","entity_type":"gene"},{"created":"2022-02-17T09:35:29.826865+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3577","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: RORA was changed from  to Other","entity_name":"RORA","entity_type":"gene"},{"created":"2022-02-17T09:35:20.512678+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3576","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RORA was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RORA","entity_type":"gene"},{"created":"2022-02-17T09:35:07.898574+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3575","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Eleven unrelated individuals with de novo variants in this gene; postulated that some variants exert dominant-negative effect resulting in a more severe phenotype than the LoF variants. \nSources: Expert list; to: Eleven unrelated individuals with de novo variants in this gene; postulated that some variants exert dominant-negative effect resulting in a more severe phenotype than the LoF variants.\r\n\r\nClinical presentation is generally post-natal, but pontocerebellar hypoplasia rarely reported.\r\n\r\nSources: Expert list","entity_name":"RORA","entity_type":"gene"},{"created":"2022-02-17T09:34:40.590897+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3575","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RORA: Changed rating: AMBER","entity_name":"RORA","entity_type":"gene"},{"created":"2022-02-17T09:21:21.169351+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3575","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ROBO3 as ready","entity_name":"ROBO3","entity_type":"gene"},{"created":"2022-02-17T09:21:21.155673+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3575","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: robo3 has been classified as Green List (High Evidence).","entity_name":"ROBO3","entity_type":"gene"},{"created":"2022-02-17T09:21:16.962177+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3575","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ROBO3 were set to ","entity_name":"ROBO3","entity_type":"gene"},{"created":"2022-02-17T09:20:50.339006+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3574","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ROBO3 as Green List (high evidence)","entity_name":"ROBO3","entity_type":"gene"},{"created":"2022-02-17T09:20:50.325336+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3574","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: robo3 has been classified as Green List (High Evidence).","entity_name":"ROBO3","entity_type":"gene"},{"created":"2022-02-17T09:19:22.015187+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3573","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RMND1 as ready","entity_name":"RMND1","entity_type":"gene"},{"created":"2022-02-17T09:19:22.002724+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3573","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rmnd1 has been classified as Green List (High Evidence).","entity_name":"RMND1","entity_type":"gene"},{"created":"2022-02-17T09:19:00.499094+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3573","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RMND1 were changed from ENCEPHALOPATHY ASSOCIATED WITH MULTIPLE OXIDATIVE PHOSPHORYLATION COMPLEX DEFICIENCIES AND A MITOCHONDRIAL TRANSLATION DEFECT to Combined oxidative phosphorylation deficiency 11, MIM# MIM#614922","entity_name":"RMND1","entity_type":"gene"},{"created":"2022-02-17T09:18:45.748682+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3572","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RMND1 were set to ","entity_name":"RMND1","entity_type":"gene"},{"created":"2022-02-17T09:18:32.386004+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.3571","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RMND1 as Green List (high evidence)","entity_name":"RMND1","entity_type":"gene"}]}