{"count":220725,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=774","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=772","results":[{"created":"2022-09-02T13:51:09.812786+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ALDH6A1 as Green List (high evidence)","entity_name":"ALDH6A1","entity_type":"gene"},{"created":"2022-09-02T13:51:09.792549+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: aldh6a1 has been classified as Green List (High Evidence).","entity_name":"ALDH6A1","entity_type":"gene"},{"created":"2022-09-02T13:50:49.785425+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.14","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ACAT1 as ready","entity_name":"ACAT1","entity_type":"gene"},{"created":"2022-09-02T13:50:49.773272+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.14","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: acat1 has been classified as Green List (High Evidence).","entity_name":"ACAT1","entity_type":"gene"},{"created":"2022-09-02T13:50:37.441526+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.14","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ACAT1 as Green List (high evidence)","entity_name":"ACAT1","entity_type":"gene"},{"created":"2022-09-02T13:50:37.430115+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.14","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: acat1 has been classified as Green List (High Evidence).","entity_name":"ACAT1","entity_type":"gene"},{"created":"2022-09-02T13:50:25.607130+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ACADSB as ready","entity_name":"ACADSB","entity_type":"gene"},{"created":"2022-09-02T13:50:25.585370+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: acadsb has been classified as Green List (High Evidence).","entity_name":"ACADSB","entity_type":"gene"},{"created":"2022-09-02T13:50:23.096398+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: ACADSB were set to 29152456","entity_name":"ACADSB","entity_type":"gene"},{"created":"2022-09-02T13:50:11.423713+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ACADSB as Green List (high evidence)","entity_name":"ACADSB","entity_type":"gene"},{"created":"2022-09-02T13:50:11.416298+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: acadsb has been classified as Green List (High Evidence).","entity_name":"ACADSB","entity_type":"gene"},{"created":"2022-09-02T13:49:49.551345+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.11","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ACAD8 as ready","entity_name":"ACAD8","entity_type":"gene"},{"created":"2022-09-02T13:49:49.535063+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.11","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: acad8 has been classified as Green List (High Evidence).","entity_name":"ACAD8","entity_type":"gene"},{"created":"2022-09-02T13:49:46.994194+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.11","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: ACAD8 were set to 29152456","entity_name":"ACAD8","entity_type":"gene"},{"created":"2022-09-02T13:49:30.881278+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.10","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ACAD8 as Green List (high evidence)","entity_name":"ACAD8","entity_type":"gene"},{"created":"2022-09-02T13:49:30.874127+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.10","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: acad8 has been classified as Green List (High Evidence).","entity_name":"ACAD8","entity_type":"gene"},{"created":"2022-09-02T13:48:12.427761+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.9","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: DLD as ready","entity_name":"DLD","entity_type":"gene"},{"created":"2022-09-02T13:48:12.411502+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.9","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dld has been classified as Green List (High Evidence).","entity_name":"DLD","entity_type":"gene"},{"created":"2022-09-02T13:48:05.812004+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.9","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: DLD were set to ","entity_name":"DLD","entity_type":"gene"},{"created":"2022-09-02T13:47:45.679985+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.8","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: DBT as ready","entity_name":"DBT","entity_type":"gene"},{"created":"2022-09-02T13:47:45.670583+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.8","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dbt has been classified as Green List (High Evidence).","entity_name":"DBT","entity_type":"gene"},{"created":"2022-09-02T13:47:42.702139+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.8","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: DBT were set to 29152456","entity_name":"DBT","entity_type":"gene"},{"created":"2022-09-02T13:47:28.513775+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.7","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: BCKDK as ready","entity_name":"BCKDK","entity_type":"gene"},{"created":"2022-09-02T13:47:28.502300+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.7","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: bckdk has been classified as Green List (High Evidence).","entity_name":"BCKDK","entity_type":"gene"},{"created":"2022-09-02T13:47:25.424346+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.7","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: BCKDK were set to ","entity_name":"BCKDK","entity_type":"gene"},{"created":"2022-09-02T13:47:07.211059+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: BCKDHB as ready","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2022-09-02T13:47:07.199938+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: bckdhb has been classified as Green List (High Evidence).","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2022-09-02T13:47:02.641893+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: BCKDHB were set to 29152456","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2022-09-02T13:46:39.644799+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.5","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: BCKDHA as ready","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2022-09-02T13:46:39.637679+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.5","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: bckdha has been classified as Green List (High Evidence).","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2022-09-02T13:46:34.666292+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.5","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: BCKDHA were set to 29152456","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2022-09-02T13:46:05.949523+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.4","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: BCAT2 as ready","entity_name":"BCAT2","entity_type":"gene"},{"created":"2022-09-02T13:46:05.937587+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.4","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: bcat2 has been classified as Green List (High Evidence).","entity_name":"BCAT2","entity_type":"gene"},{"created":"2022-09-02T13:46:03.406434+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.4","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: BCAT2 were set to ","entity_name":"BCAT2","entity_type":"gene"},{"created":"2022-09-02T13:45:43.303339+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.3","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PPM1K as ready","entity_name":"PPM1K","entity_type":"gene"},{"created":"2022-09-02T13:45:43.286572+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.3","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ppm1k has been classified as Red List (Low Evidence).","entity_name":"PPM1K","entity_type":"gene"},{"created":"2022-09-02T13:45:34.367702+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.3","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: PPM1K were set to 29152456","entity_name":"PPM1K","entity_type":"gene"},{"created":"2022-09-02T13:45:22.647933+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.2","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PPM1K as Red List (low evidence)","entity_name":"PPM1K","entity_type":"gene"},{"created":"2022-09-02T13:45:22.640773+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.2","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ppm1k has been classified as Red List (Low Evidence).","entity_name":"PPM1K","entity_type":"gene"},{"created":"2022-09-02T13:38:46.743253+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DLD was added\ngene: DLD was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green\nMode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DLD were set to pyruvate dehydrogenase E3 deficiency MONDO:0009529","entity_name":"DLD","entity_type":"gene"},{"created":"2022-09-02T13:38:46.696949+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BCAT2 was added\ngene: BCAT2 was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green\nMode of inheritance for gene: BCAT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCAT2 were set to hypervalinemia and hyperleucine-isoleucinemia MONDO:0100058","entity_name":"BCAT2","entity_type":"gene"},{"created":"2022-09-02T13:38:46.648854+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BCKDK was added\ngene: BCKDK was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green\nMode of inheritance for gene: BCKDK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCKDK were set to branched-chain keto acid dehydrogenase kinase deficiency MONDO:0013970","entity_name":"BCKDK","entity_type":"gene"},{"created":"2022-09-02T13:38:46.602624+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MMADHC was added\ngene: MMADHC was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMADHC were set to 29152456\nPhenotypes for gene: MMADHC were set to methylmalonic aciduria and homocystinuria type cblD MONDO:0010185","entity_name":"MMADHC","entity_type":"gene"},{"created":"2022-09-02T13:38:46.552479+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MMAB was added\ngene: MMAB was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMAB were set to 29152456\nPhenotypes for gene: MMAB were set to methylmalonic aciduria, cblB type MONDO:0009614","entity_name":"MMAB","entity_type":"gene"},{"created":"2022-09-02T13:38:46.502604+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MMAA was added\ngene: MMAA was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMAA were set to 29152456\nPhenotypes for gene: MMAA were set to methylmalonic aciduria, cblA type MONDO:0009613","entity_name":"MMAA","entity_type":"gene"},{"created":"2022-09-02T13:38:46.454707+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MUT was added\ngene: MUT was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MUT were set to 29152456\nPhenotypes for gene: MUT were set to methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0009612","entity_name":"MUT","entity_type":"gene"},{"created":"2022-09-02T13:38:46.409368+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PCCB was added\ngene: PCCB was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCCB were set to 29152456\nPhenotypes for gene: PCCB were set to propionic acidemia MONDO:0011628","entity_name":"PCCB","entity_type":"gene"},{"created":"2022-09-02T13:38:46.363897+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PCCA was added\ngene: PCCA was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCCA were set to 29152456\nPhenotypes for gene: PCCA were set to propionic acidemia MONDO:0011628","entity_name":"PCCA","entity_type":"gene"},{"created":"2022-09-02T13:38:46.319139+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ALDH6A1 was added\ngene: ALDH6A1 was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: ALDH6A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALDH6A1 were set to 29152456\nPhenotypes for gene: ALDH6A1 were set to methylmalonate semialdehyde dehydrogenase deficiency MONDO:0013579","entity_name":"ALDH6A1","entity_type":"gene"},{"created":"2022-09-02T13:38:46.272034+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: HIBCH was added\ngene: HIBCH was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HIBCH were set to 29152456\nPhenotypes for gene: HIBCH were set to 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603","entity_name":"HIBCH","entity_type":"gene"},{"created":"2022-09-02T13:38:46.222938+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ACAD8 was added\ngene: ACAD8 was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: ACAD8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACAD8 were set to 29152456\nPhenotypes for gene: ACAD8 were set to isobutyryl-CoA dehydrogenase deficiency MONDO:0012648","entity_name":"ACAD8","entity_type":"gene"},{"created":"2022-09-02T13:38:46.175813+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ACAT1 was added\ngene: ACAT1 was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACAT1 were set to 29152456\nPhenotypes for gene: ACAT1 were set to beta-ketothiolase deficiency MONDO:0008760","entity_name":"ACAT1","entity_type":"gene"},{"created":"2022-09-02T13:38:46.130473+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ACADSB was added\ngene: ACADSB was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACADSB were set to 29152456\nPhenotypes for gene: ACADSB were set to 2-methylbutyryl-CoA dehydrogenase deficiency MONDO:0012392","entity_name":"ACADSB","entity_type":"gene"},{"created":"2022-09-02T13:38:46.085283+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: HMGCL was added\ngene: HMGCL was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HMGCL were set to 29152456\nPhenotypes for gene: HMGCL were set to 3-hydroxy-3-methylglutaric aciduria MONDO:0009520","entity_name":"HMGCL","entity_type":"gene"},{"created":"2022-09-02T13:38:46.040199+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CLPB was added\ngene: CLPB was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLPB were set to 29152456\nPhenotypes for gene: CLPB were set to 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia MONDO:0014561","entity_name":"CLPB","entity_type":"gene"},{"created":"2022-09-02T13:38:45.994497+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SERAC1 was added\ngene: SERAC1 was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SERAC1 were set to 29152456\nPhenotypes for gene: SERAC1 were set to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0013875","entity_name":"SERAC1","entity_type":"gene"},{"created":"2022-09-02T13:38:45.949636+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DNAJC19 was added\ngene: DNAJC19 was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAJC19 were set to 29152456\nPhenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria type 5 MONDO:0012435","entity_name":"DNAJC19","entity_type":"gene"},{"created":"2022-09-02T13:38:45.905776+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: OPA3 was added\ngene: OPA3 was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OPA3 were set to 29152456\nPhenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria type 3 MONDO:0009787","entity_name":"OPA3","entity_type":"gene"},{"created":"2022-09-02T13:38:45.861733+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TAZ was added\ngene: TAZ was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: TAZ were set to 29152456\nPhenotypes for gene: TAZ were set to 3-methylglutaconic aciduria MONDO:0017359","entity_name":"TAZ","entity_type":"gene"},{"created":"2022-09-02T13:38:45.817755+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: AUH was added\ngene: AUH was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AUH were set to 29152456\nPhenotypes for gene: AUH were set to 3-methylglutaconic aciduria type 1 MONDO:0009610","entity_name":"AUH","entity_type":"gene"},{"created":"2022-09-02T13:38:45.771488+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MCCC2 was added\ngene: MCCC2 was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCCC2 were set to 29152456\nPhenotypes for gene: MCCC2 were set to 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0018950","entity_name":"MCCC2","entity_type":"gene"},{"created":"2022-09-02T13:38:45.727061+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MCCC1 was added\ngene: MCCC1 was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCCC1 were set to 29152456\nPhenotypes for gene: MCCC1 were set to 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0018950","entity_name":"MCCC1","entity_type":"gene"},{"created":"2022-09-02T13:38:45.682624+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: IVD was added\ngene: IVD was added to Disorders of branched chain amino acid metabolism. Sources: Literature\nMode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IVD were set to 29152456\nPhenotypes for gene: IVD were set to isovaleric acidemia MONDO:0009475","entity_name":"IVD","entity_type":"gene"},{"created":"2022-09-02T13:38:45.638027+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PPM1K was added\ngene: PPM1K was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green\nMode of inheritance for gene: PPM1K was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPM1K were set to 29152456\nPhenotypes for gene: PPM1K were set to maple syrup urine disease, mild variant MONDO:0014057","entity_name":"PPM1K","entity_type":"gene"},{"created":"2022-09-02T13:38:45.593278+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DBT was added\ngene: DBT was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green\nMode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DBT were set to 29152456\nPhenotypes for gene: DBT were set to maple syrup urine disease MONDO:0009563","entity_name":"DBT","entity_type":"gene"},{"created":"2022-09-02T13:38:45.549622+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BCKDHB was added\ngene: BCKDHB was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green\nMode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BCKDHB were set to 29152456\nPhenotypes for gene: BCKDHB were set to maple syrup urine disease type 1B MONDO:0023692","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2022-09-02T13:38:45.504626+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BCKDHA was added\ngene: BCKDHA was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green\nMode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BCKDHA were set to 29152456\nPhenotypes for gene: BCKDHA were set to maple syrup urine disease type 1A MONDO:0023691","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2022-09-02T13:38:45.473496+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"panel","text":"Added panel Disorders of branched chain amino acid metabolism","entity_name":null,"entity_type":null},{"created":"2022-09-02T09:57:57.198342+10:00","panel_name":"Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.47","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Australian Genomics; Rare Disease; Royal Melbourne Hospital","entity_name":null,"entity_type":null},{"created":"2022-09-02T09:16:38.631478+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4927","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder, MONDO:0700092, PPFIBP1-related to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024","entity_name":"PPFIBP1","entity_type":"gene"},{"created":"2022-09-02T09:15:57.423411+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1656","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024 to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024","entity_name":"PPFIBP1","entity_type":"gene"},{"created":"2022-09-02T09:15:56.428429+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4926","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PPFIBP1: Changed phenotypes: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024","entity_name":"PPFIBP1","entity_type":"gene"},{"created":"2022-09-02T09:15:03.108589+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1655","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder, MONDO:0700092, PPFIBP1-related to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024","entity_name":"PPFIBP1","entity_type":"gene"},{"created":"2022-09-02T09:14:22.367718+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1654","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PPFIBP1: Changed phenotypes: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024","entity_name":"PPFIBP1","entity_type":"gene"},{"created":"2022-09-02T09:14:05.273420+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.150","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder, MONDO:0700092, PPFIBP1-related to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024","entity_name":"PPFIBP1","entity_type":"gene"},{"created":"2022-09-02T09:13:38.274261+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.149","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PPFIBP1: Changed phenotypes: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024","entity_name":"PPFIBP1","entity_type":"gene"},{"created":"2022-09-02T09:13:17.846498+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.313","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder, MONDO:0700092, PPFIBP1-related to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024","entity_name":"PPFIBP1","entity_type":"gene"},{"created":"2022-09-02T09:12:48.332522+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.312","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PPFIBP1: Changed publications: 35830857","entity_name":"PPFIBP1","entity_type":"gene"},{"created":"2022-09-02T09:12:19.099527+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.312","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PPFIBP1: Changed phenotypes: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024","entity_name":"PPFIBP1","entity_type":"gene"},{"created":"2022-09-02T09:10:55.835467+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.312","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDZD8 as ready","entity_name":"PDZD8","entity_type":"gene"},{"created":"2022-09-02T09:10:55.823441+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.312","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdzd8 has been classified as Green List (High Evidence).","entity_name":"PDZD8","entity_type":"gene"},{"created":"2022-09-02T09:10:16.782010+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.312","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDZD8 as Green List (high evidence)","entity_name":"PDZD8","entity_type":"gene"},{"created":"2022-09-02T09:10:16.774359+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.312","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdzd8 has been classified as Green List (High Evidence).","entity_name":"PDZD8","entity_type":"gene"},{"created":"2022-09-02T09:09:51.229678+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.311","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PDZD8 was added\ngene: PDZD8 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PDZD8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDZD8 were set to 35227461\nPhenotypes for gene: PDZD8 were set to Intellectual developmental disorder with autism and dysmorphic facies, MIM# 620021\nReview for gene: PDZD8 was set to GREEN\nAdded comment: Four individuals from two unrelated families, Drosophila and mouse models support gene-disease association. \nSources: Literature","entity_name":"PDZD8","entity_type":"gene"},{"created":"2022-09-02T09:08:21.243877+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4926","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDZD8 as ready","entity_name":"PDZD8","entity_type":"gene"},{"created":"2022-09-02T09:08:21.230712+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4926","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdzd8 has been classified as Green List (High Evidence).","entity_name":"PDZD8","entity_type":"gene"},{"created":"2022-09-02T09:08:13.930976+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4926","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDZD8 as Green List (high evidence)","entity_name":"PDZD8","entity_type":"gene"},{"created":"2022-09-02T09:08:13.922836+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4926","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdzd8 has been classified as Green List (High Evidence).","entity_name":"PDZD8","entity_type":"gene"},{"created":"2022-09-02T09:07:44.024915+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4925","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PDZD8 was added\ngene: PDZD8 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PDZD8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDZD8 were set to 35227461\nPhenotypes for gene: PDZD8 were set to Intellectual developmental disorder with autism and dysmorphic facies, MIM#\t620021\nReview for gene: PDZD8 was set to GREEN\nAdded comment: Four individuals from two unrelated families, Drosophila and mouse models support gene-disease association. \nSources: Literature","entity_name":"PDZD8","entity_type":"gene"},{"created":"2022-09-02T08:41:43.056345+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.310","user_name":"Daniel Flanagan","item_type":"entity","text":"gene: SLC31A1 was added\ngene: SLC31A1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: SLC31A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC31A1 were set to PMID: 35913762\nPhenotypes for gene: SLC31A1 were set to Neurodevelopmental disorder, SLC31A1-related (MONDO#0700092)\nReview for gene: SLC31A1 was set to RED\nAdded comment: SLC31A1 is also referred to as CTR1. \r\nMonozygotic twins with hypotonia, global developmental delay, seizures, and rapid brain atrophy, consistent with profound central nervous system copper deficiency. Homozygous for a novel missense variant (p.(Arg95His)) in copper transporter CTR1, both parents heterozygous. A mouse knock-out model of CTR1 deficiency resulted in prenatal lethality. \nSources: Expert list","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2022-09-02T08:40:24.553289+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1654","user_name":"Daniel Flanagan","item_type":"entity","text":"gene: SLC31A1 was added\ngene: SLC31A1 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: SLC31A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC31A1 were set to PMID: 35913762\nPhenotypes for gene: SLC31A1 were set to Neurodevelopmental disorder, SLC31A1-related (MONDO#0700092)\nReview for gene: SLC31A1 was set to RED\nAdded comment: SLC31A1 is also referred to as CTR1. \r\nMonozygotic twins with hypotonia, global developmental delay, seizures, and rapid brain atrophy, consistent with profound central nervous system copper deficiency. Homozygous for a novel missense variant (p.(Arg95His)) in copper transporter CTR1, both parents heterozygous. A mouse knock-out model of CTR1 deficiency resulted in prenatal lethality. \nSources: Expert list","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2022-09-02T08:38:23.545407+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4924","user_name":"Daniel Flanagan","item_type":"entity","text":"gene: SLC31A1 was added\ngene: SLC31A1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: SLC31A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC31A1 were set to PMID: 35913762\nPhenotypes for gene: SLC31A1 were set to Neurodevelopmental disorder, SLC31A1-related (MONDO#0700092)\nReview for gene: SLC31A1 was set to RED\nAdded comment: SLC31A1 is also referred to as CTR1. \r\nMonozygotic twins with hypotonia, global developmental delay, seizures, and rapid brain atrophy, consistent with profound central nervous system copper deficiency. Homozygous for a novel missense variant (p.(Arg95His)) in copper transporter CTR1, both parents heterozygous. A mouse knock-out model of CTR1 deficiency resulted in prenatal lethality. \nSources: Expert list","entity_name":"SLC31A1","entity_type":"gene"},{"created":"2022-09-01T20:24:09.467160+10:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SIX3 as ready","entity_name":"SIX3","entity_type":"gene"},{"created":"2022-09-01T20:24:09.459265+10:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: six3 has been classified as Red List (Low Evidence).","entity_name":"SIX3","entity_type":"gene"},{"created":"2022-09-01T20:24:05.631735+10:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SIX3 were changed from Holoprosencephaly 2 (157170); Non-acquired combined pituitary hormone deficiency MONDO:0018762 to Holoprosencephaly 2 (157170); Non-acquired combined pituitary hormone deficiency MONDO:0018762","entity_name":"SIX3","entity_type":"gene"},{"created":"2022-09-01T20:24:05.046590+10:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SIX3 were changed from Holoprosencephaly 2 (157170) to Holoprosencephaly 2 (157170); Non-acquired combined pituitary hormone deficiency MONDO:0018762","entity_name":"SIX3","entity_type":"gene"},{"created":"2022-09-01T20:23:29.940921+10:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SIX3 were set to ","entity_name":"SIX3","entity_type":"gene"},{"created":"2022-09-01T20:22:23.653413+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.310","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HNRNPH1 were changed from HNRNPH1‐related syndromic intellectual disability to HNRNPH1‐related syndromic intellectual disability; early onset high myopia, MONDO:0001384","entity_name":"HNRNPH1","entity_type":"gene"},{"created":"2022-09-01T20:21:18.709578+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.309","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HNRNPH1 were set to 32335897; 29938792","entity_name":"HNRNPH1","entity_type":"gene"},{"created":"2022-09-01T20:20:02.443991+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM163 as ready","entity_name":"TMEM163","entity_type":"gene"}]}