{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=647","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=645","results":[{"created":"2023-01-05T14:30:55.682581+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.82","user_name":"Alison Yeung","item_type":"entity","text":"Mode of inheritance for gene: TGFBR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"TGFBR1","entity_type":"gene"},{"created":"2023-01-05T14:30:17.093603+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.578","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ZMYM3 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ZMYM3","entity_type":"gene"},{"created":"2023-01-05T14:29:48.694563+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.577","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZMYM3 were changed from Neurodevelopmental disorders (NDDs) to Neurodevelopmental disorder, MONDO:0700092, ZMYM3-related","entity_name":"ZMYM3","entity_type":"gene"},{"created":"2023-01-05T14:29:21.156719+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.576","user_name":"Elena Savva","item_type":"entity","text":"gene: TRA2B was added\ngene: TRA2B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TRA2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TRA2B were set to PMID: 36549593\nPhenotypes for gene: TRA2B were set to Neurodevelopmental disorder, TRA2B-related (MONDO#0700092)\nReview for gene: TRA2B was set to GREEN\nAdded comment: PMID: 36549593 \r\n- 12 individuals with ID and dev delay. Additional features include infantile spams 6/12, hypotonia 12/12, dilated brain ventricles 6/12, microcephaly 5/12\r\n- All variants result in the loss of 1/2 transcripts (start-losses or PTCs upstream of a second translation start position). Shorter transcript expression is increased, longer transcript expression is decreased.\r\n- Apparently het mice K/O are normal, but complete K/O cannot develop embryonically.\r\n- DN mechanism suggested \nSources: Literature","entity_name":"TRA2B","entity_type":"gene"},{"created":"2023-01-05T14:29:13.255473+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.575","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZMYM3 as Green List (high evidence)","entity_name":"ZMYM3","entity_type":"gene"},{"created":"2023-01-05T14:29:13.236469+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.575","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zmym3 has been classified as Green List (High Evidence).","entity_name":"ZMYM3","entity_type":"gene"},{"created":"2023-01-05T14:28:38.792192+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5137","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZMYM3 were set to 24721225","entity_name":"ZMYM3","entity_type":"gene"},{"created":"2023-01-05T14:27:51.652479+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5136","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZMYM3 were changed from  to Neurodevelopmental disorder, MONDO:0700092, ZMYM3-related","entity_name":"ZMYM3","entity_type":"gene"},{"created":"2023-01-05T14:27:23.712577+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.52","user_name":"Lucy Spencer","item_type":"entity","text":"gene: NFU1 was added\ngene: NFU1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nMode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NFU1 were set to 36256512\nPhenotypes for gene: NFU1 were set to Multiple mitochondrial dysfunctions syndrome 1 (MIM#605711)\nReview for gene: NFU1 was set to GREEN\nAdded comment: Adding to the phenotypic continuum of this gene. 19 affected individuals from 10 independent families with biallelic missense variants associated with a spectrum of early‐onset pure to complex hereditary spastic paraplegia (HSP) phenotype with a longer survival (16/19) on one end and neurodevelopmental delay with severe hypotonia (3/19) on the other. \nSources: Literature","entity_name":"NFU1","entity_type":"gene"},{"created":"2023-01-05T14:27:12.786688+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1823","user_name":"Elena Savva","item_type":"entity","text":"gene: TRA2B was added\ngene: TRA2B was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: TRA2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TRA2B were set to PMID: 36549593\nPhenotypes for gene: TRA2B were set to Neurodevelopmental disorder, TRA2B-related (MONDO#0700092)\nReview for gene: TRA2B was set to GREEN\nAdded comment: PMID: 36549593\r\n- 12 individuals with ID and dev delay. Additional features include infantile spams 6/12, hypotonia 12/12, dilated brain ventricles 6/12, microcephaly 5/12\r\n- All variants result in the loss of 1/2 transcripts (start-losses or PTCs upstream of a second translation start position). Shorter transcript expression is increased, longer transcript expression is decreased.\r\n- Apparently het mice K/O are normal, but complete K/O cannot develop embryonically.\r\n- DN mechanism suggested \nSources: Literature","entity_name":"TRA2B","entity_type":"gene"},{"created":"2023-01-05T14:26:14.022382+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.574","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUFT1 as ready","entity_name":"TUFT1","entity_type":"gene"},{"created":"2023-01-05T14:26:14.009319+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.574","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tuft1 has been classified as Amber List (Moderate Evidence).","entity_name":"TUFT1","entity_type":"gene"},{"created":"2023-01-05T14:26:06.859399+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5135","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZMYM3 as Green List (high evidence)","entity_name":"ZMYM3","entity_type":"gene"},{"created":"2023-01-05T14:26:06.848358+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5135","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zmym3 has been classified as Green List (High Evidence).","entity_name":"ZMYM3","entity_type":"gene"},{"created":"2023-01-05T14:25:40.085600+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.87","user_name":"Seb Lunke","item_type":"entity","text":"gene: PHLDB1 was added\ngene: PHLDB1 was added to Osteogenesis Imperfecta. Sources: Literature\nMode of inheritance for gene: PHLDB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PHLDB1 were set to 36543534\nReview for gene: PHLDB1 was set to AMBER\nAdded comment: 5 children from two consanguineous families with recurrent fractures and/or osteopaenia, platyspondyly, short and bowed long bones, and widened metaphyses. Metaphyseal and vertebral changes regressed after early childhood, and no fractures occurred under bisphosphonate treatment. \r\n\r\nTwo independent nonsense variants were identified in the families, NM_001144758.3:c.2392dup (p.Leu798Profs*4) and NM_001144758.3:c.2690_2693del (p.Leu897Glnfs*24). RT-PCR and western blot analysis confirmed loss of transcript and protein product, respectively, but no further functional data provided. \nSources: Literature","entity_name":"PHLDB1","entity_type":"gene"},{"created":"2023-01-05T14:24:30.818356+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.76","user_name":"Alison Yeung","item_type":"entity","text":"Mode of inheritance for gene: TGFBR1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"TGFBR1","entity_type":"gene"},{"created":"2023-01-05T14:24:09.353564+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.183","user_name":"Elena Savva","item_type":"entity","text":"gene: TRA2B was added\ngene: TRA2B was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: TRA2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TRA2B were set to PMID: 36549593\nPhenotypes for gene: TRA2B were set to Neurodevelopmental disorder, TRA2B-related (MONDO#0700092)\nReview for gene: TRA2B was set to GREEN\nAdded comment: PMID: 36549593 \r\n- 12 individuals with ID and dev delay. Additional features include infantile spams 6/12, hypotonia 12/12, dilated brain ventricles 6/12, microcephaly 5/12\r\n- All variants result in the loss of 1/2 transcripts (start-losses or PTCs upstream of a second translation start position). Shorter transcript expression is increased, longer transcript expression is decreased.\r\n- Apparently het mice K/O are normal, but complete K/O cannot develop embryonically.\r\n- DN mechanism suggested \nSources: Literature","entity_name":"TRA2B","entity_type":"gene"},{"created":"2023-01-05T14:24:04.149272+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5134","user_name":"Dean Phelan","item_type":"entity","text":"gene: EIF4A2 was added\ngene: EIF4A2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: EIF4A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: EIF4A2 were set to PMID: 36528028\nPhenotypes for gene: EIF4A2 were set to Neurodevelopmental disorder (MONDO:0700092), EIF4A2-related\nMode of pathogenicity for gene: EIF4A2 was set to Other\nReview for gene: EIF4A2 was set to GREEN\nAdded comment: PMID: 36528028\r\n- EIF4A2 variants were observed in 15 individuals from 14 families. Affected individuals had a range of symptoms including global developmental delay (9/15), ID (7/15), epilepsy (11/15) and structural brain alterations (10/15). Monoallelic and biallelic variants were reported and functional studies showed both LOF and GOF disease mechanisms. \nSources: Literature","entity_name":"EIF4A2","entity_type":"gene"},{"created":"2023-01-05T14:23:48.434875+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.87","user_name":"Seb Lunke","item_type":"entity","text":"gene: PHLDB1 was added\ngene: PHLDB1 was added to Osteogenesis Imperfecta. Sources: Literature\nMode of inheritance for gene: PHLDB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PHLDB1 were set to 36543534\nPhenotypes for gene: PHLDB1 were set to osteogenesis imperfecta, MONDO:0019019\nReview for gene: PHLDB1 was set to AMBER\nAdded comment: 5 children from two consanguineous families with recurrent fractures and/or osteopaenia, platyspondyly, short and bowed long bones, and widened metaphyses. Metaphyseal and vertebral changes regressed after early childhood, and no fractures occurred under bisphosphonate treatment. \r\n\r\nTwo independent nonsense variants were identified in the families, NM_001144758.3:c.2392dup (p.Leu798Profs*4) and NM_001144758.3:c.2690_2693del (p.Leu897Glnfs*24). RT-PCR and western blot analysis confirmed loss of transcript and protein product, respectively, but no further functional data provided. \nSources: Literature","entity_name":"PHLDB1","entity_type":"gene"},{"created":"2023-01-05T14:23:18.910339+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5134","user_name":"Elena Savva","item_type":"entity","text":"gene: TRA2B was added\ngene: TRA2B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TRA2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TRA2B were set to PMID: 36549593\nPhenotypes for gene: TRA2B were set to Neurodevelopmental disorder, TRA2B-related (MONDO#0700092)\nReview for gene: TRA2B was set to GREEN\nAdded comment: PMID: 36549593 \r\n- 12 individuals with ID and dev delay. Additional features include infantile spams 6/12, hypotonia 12/12, dilated brain ventricles 6/12, microcephaly 5/12\r\n- All variants result in the loss of 1/2 transcripts (start-losses or PTCs upstream of a second translation start position). Shorter transcript expression is increased, longer transcript expression is decreased.\r\n- Apparently het mice K/O are normal, but complete K/O cannot develop embryonically.\r\n- DN mechanism suggested \nSources: Literature","entity_name":"TRA2B","entity_type":"gene"},{"created":"2023-01-05T14:22:58.149582+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.76","user_name":"Alison Yeung","item_type":"entity","text":"Mode of inheritance for gene: TGFBR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"TGFBR1","entity_type":"gene"},{"created":"2023-01-05T14:22:15.069341+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Additional individuals reported in PMID 35139179: polymicrogyria observed. \nSources: Literature; to: Additional individuals reported in PMID 35139179: polymicrogyria observed. Variants clustered between Q61 and R68 within the switch II region of RAC1, and are postulated to be activating.\r\nSources: Literature","entity_name":"RAC1","entity_type":"gene"},{"created":"2023-01-05T14:21:51.235141+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAC1 as ready","entity_name":"RAC1","entity_type":"gene"},{"created":"2023-01-05T14:21:51.222812+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rac1 has been classified as Green List (High Evidence).","entity_name":"RAC1","entity_type":"gene"},{"created":"2023-01-05T14:21:45.877170+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RAC1 as Green List (high evidence)","entity_name":"RAC1","entity_type":"gene"},{"created":"2023-01-05T14:21:45.861706+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rac1 has been classified as Green List (High Evidence).","entity_name":"RAC1","entity_type":"gene"},{"created":"2023-01-05T14:20:55.225500+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.75","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: TGFBR1: Rating: ; Mode of pathogenicity: None; Publications: 36584339; Phenotypes: Loeys-Dietz syndrome 1, MIM# 609192; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"TGFBR1","entity_type":"gene"},{"created":"2023-01-05T14:20:52.754023+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.185","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAC1 was added\ngene: RAC1 was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: RAC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAC1 were set to 35139179\nPhenotypes for gene: RAC1 were set to Mental retardation, autosomal dominant 48, MIM# 617751\nReview for gene: RAC1 was set to GREEN\nAdded comment: Additional individuals reported in PMID 35139179: polymicrogyria observed. \nSources: Literature","entity_name":"RAC1","entity_type":"gene"},{"created":"2023-01-05T14:19:33.871512+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.182","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAC1 were set to 30042656; 29276006; 30293988","entity_name":"RAC1","entity_type":"gene"},{"created":"2023-01-05T14:19:00.669774+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.181","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RAC1 as Green List (high evidence)","entity_name":"RAC1","entity_type":"gene"},{"created":"2023-01-05T14:19:00.657313+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.181","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rac1 has been classified as Green List (High Evidence).","entity_name":"RAC1","entity_type":"gene"},{"created":"2023-01-05T14:18:16.123523+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.180","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RAC1: Added comment: Additional patients reported. Microcephaly is a feature, though variable one, and some individuals have macrocephaly.; Changed rating: GREEN; Changed publications: 30042656, 29276006, 30293988, 35139179","entity_name":"RAC1","entity_type":"gene"},{"created":"2023-01-05T14:14:50.194421+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.574","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TUFT1 as Amber List (moderate evidence)","entity_name":"TUFT1","entity_type":"gene"},{"created":"2023-01-05T14:14:50.183369+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.574","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tuft1 has been classified as Amber List (Moderate Evidence).","entity_name":"TUFT1","entity_type":"gene"},{"created":"2023-01-05T14:13:19.726701+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.573","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TUFT1 was added\ngene: TUFT1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TUFT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TUFT1 were set to https://doi.org/10.1093/bjd/ljac026\nPhenotypes for gene: TUFT1 were set to Ectodermal dysplasia, MONDO:0019287, TUFT1-related\nReview for gene: TUFT1 was set to AMBER\nAdded comment: 9 individuals from three families reported with woolly hair and skin fragility. One of the variants, c.60+1G>A was present in two of the families, founder effect demonstrated by haplotype analysis. Another loss of function variant present in the third family. Some functional data but mostly expression studies. \nSources: Literature","entity_name":"TUFT1","entity_type":"gene"},{"created":"2023-01-05T14:13:14.005273+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.572","user_name":"Belinda Chong","item_type":"entity","text":"gene: ZMYM3 was added\ngene: ZMYM3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ZMYM3 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: ZMYM3 were set to 36586412; 24721225\nPhenotypes for gene: ZMYM3 were set to Neurodevelopmental disorders (NDDs)\nReview for gene: ZMYM3 was set to GREEN\nAdded comment: PMID: 36586412\r\nUsing the MatchMaker Exchange - Described 27 individuals with rare, variation in the ZMYM3. Most individuals were males, 17 of which have a maternally inherited variant; six individuals (4 male, 2 female) with de novo variants. \r\nOverlapping features included developmental delay, intellectual disability, behavioural abnormalities, and a specific facial gestalt in a subset of males. \r\nVariants in almost all individuals are missense, including six that recurrently affect two residues. Four unrelated probands were identified with inherited variation affecting Arg441 (R441W), a site at which variation has been previously seen in NDD-affected siblings (24721225), and two individuals have de novo variation resulting in p.Arg1294Cys (c.3880C>T). \r\nChIP-seq experiments on one variant, p.Arg1274Trp, indicate dramatically reduced genomic occupancy, supporting a hypomorphic effect. \nSources: Literature","entity_name":"ZMYM3","entity_type":"gene"},{"created":"2023-01-05T14:12:49.516195+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5133","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: ZMYM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 36586412, 24721225; Phenotypes: Neurodevelopmental disorders (NDDs); 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":"ZMYM3","entity_type":"gene"},{"created":"2023-01-05T14:11:02.724581+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUFT1 as ready","entity_name":"TUFT1","entity_type":"gene"},{"created":"2023-01-05T14:11:02.706828+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tuft1 has been classified as Amber List (Moderate Evidence).","entity_name":"TUFT1","entity_type":"gene"},{"created":"2023-01-05T14:10:58.574897+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TUFT1 as Amber List (moderate evidence)","entity_name":"TUFT1","entity_type":"gene"},{"created":"2023-01-05T14:10:58.563722+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tuft1 has been classified as Amber List (Moderate Evidence).","entity_name":"TUFT1","entity_type":"gene"},{"created":"2023-01-05T14:10:49.832873+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TUFT1 was added\ngene: TUFT1 was added to Ectodermal Dysplasia. Sources: Expert Review\nMode of inheritance for gene: TUFT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TUFT1 were set to https://doi.org/10.1093/bjd/ljac026\nPhenotypes for gene: TUFT1 were set to Ectodermal dysplasia, MONDO:0019287, TUFT1-related\nReview for gene: TUFT1 was set to AMBER\nAdded comment: 9 individuals from three families reported with woolly hair and skin fragility. One of the variants, c.60+1G>A was present in two of the families, founder effect demonstrated by haplotype analysis. Another loss of function variant present in the third family. Some functional data but mostly expression studies. \nSources: Expert Review","entity_name":"TUFT1","entity_type":"gene"},{"created":"2023-01-05T11:22:55.505587+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.154","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KMT2D as ready","entity_name":"KMT2D","entity_type":"gene"},{"created":"2023-01-05T11:22:55.493506+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.154","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kmt2d has been classified as Green List (High Evidence).","entity_name":"KMT2D","entity_type":"gene"},{"created":"2023-01-05T11:22:51.490164+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.154","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KMT2D as Green List (high evidence)","entity_name":"KMT2D","entity_type":"gene"},{"created":"2023-01-05T11:22:51.477805+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.154","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kmt2d has been classified as Green List (High Evidence).","entity_name":"KMT2D","entity_type":"gene"},{"created":"2023-01-05T11:22:20.590823+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.153","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KMT2D was added\ngene: KMT2D was added to Deafness_IsolatedAndComplex. Sources: Expert Review\nMode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KMT2D were set to 31949313; 32083401\nPhenotypes for gene: KMT2D were set to Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH), MIM#620186\nReview for gene: KMT2D was set to GREEN\nAdded comment: Note new association between missense variants located in a specific region of KMT2D spanning exons 38 and 39 and affecting highly conserved residues cause a novel multiple malformations syndrome distinct from Kabuki syndrome, through a dominant negative mechanism.\r\n - >10 unrelated families with choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities. None of the individuals had intellectual disability. \nSources: Expert Review","entity_name":"KMT2D","entity_type":"gene"},{"created":"2023-01-05T11:19:58.624853+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KMT2D as ready","entity_name":"KMT2D","entity_type":"gene"},{"created":"2023-01-05T11:19:58.612369+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kmt2d has been classified as Green List (High Evidence).","entity_name":"KMT2D","entity_type":"gene"},{"created":"2023-01-05T11:19:54.241419+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KMT2D as Green List (high evidence)","entity_name":"KMT2D","entity_type":"gene"},{"created":"2023-01-05T11:19:54.229009+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kmt2d has been classified as Green List (High Evidence).","entity_name":"KMT2D","entity_type":"gene"},{"created":"2023-01-05T11:19:45.185085+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KMT2D was added\ngene: KMT2D was added to Congenital hypothyroidism. Sources: Expert Review\nMode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KMT2D were set to 31949313; 32083401\nPhenotypes for gene: KMT2D were set to Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH), MIM#620186\nReview for gene: KMT2D was set to GREEN\nAdded comment: Note new association between missense variants located in a specific region of KMT2D spanning exons 38 and 39 and affecting highly conserved residues cause a novel multiple malformations syndrome distinct from Kabuki syndrome, through a dominant negative mechanism.\r\n- >10 unrelated families with choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities. None of the individuals had intellectual disability. \nSources: Expert Review","entity_name":"KMT2D","entity_type":"gene"},{"created":"2023-01-05T11:18:08.758224+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KMT2D were set to 27991736; 24705355","entity_name":"KMT2D","entity_type":"gene"},{"created":"2023-01-05T11:17:56.660167+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KMT2D as Green List (high evidence)","entity_name":"KMT2D","entity_type":"gene"},{"created":"2023-01-05T11:17:56.647668+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kmt2d has been classified as Green List (High Evidence).","entity_name":"KMT2D","entity_type":"gene"},{"created":"2023-01-05T11:17:47.901819+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KMT2D: Added comment: Note new association between missense variants located in a specific region spanning exons 38 and 39 and affecting highly conserved residues cause a novel multiple malformations syndrome distinct from Kabuki syndrome, through a dominant negative mechanism. - >10 unrelated families with choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities. None of the individuals had intellectual disability.; Changed rating: GREEN; Changed publications: 24705355, 27991736, 31949313, 32083401; Changed phenotypes: Kabuki syndrome 1, MIM# 147920","entity_name":"KMT2D","entity_type":"gene"},{"created":"2023-01-05T11:15:30.072127+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.572","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KMT2D were changed from Kabuki syndrome 1, MIM# 147920; KMT2D-associated syndrome to Kabuki syndrome 1, MIM# 147920; Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH), MIM#620186","entity_name":"KMT2D","entity_type":"gene"},{"created":"2023-01-05T11:15:01.272617+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.571","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KMT2D: Changed phenotypes: Kabuki syndrome 1, MIM# 147920, Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH), MIM#620186","entity_name":"KMT2D","entity_type":"gene"},{"created":"2023-01-04T20:48:19.036327+11:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Pulmonary fibrosis, HP:0002206; Abnormal pulmonary interstitial morphology, HP:0006530\nList of related panels changed from  to Pulmonary fibrosis; HP:0002206; Abnormal pulmonary interstitial morphology; HP:0006530","entity_name":null,"entity_type":null},{"created":"2023-01-04T20:46:07.846450+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Pulmonary arterial hypertension, HP:0002092\nList of related panels changed from  to Pulmonary arterial hypertension; HP:0002092","entity_name":null,"entity_type":null},{"created":"2023-01-04T20:45:00.897393+11:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"panel","text":"List of related panels changed from  to Pseudohypoparathyroidism; HP:0000093\nPanel types changed to Victorian Clinical Genetics Services; Rare Disease","entity_name":null,"entity_type":null},{"created":"2023-01-04T20:43:10.364865+11:00","panel_name":"Progressive Myoclonic Epilepsy","panel_id":331,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Myoclonic seizure, HP:0032794\nList of related panels changed from  to Myoclonic seizure; HP:0032794","entity_name":null,"entity_type":null},{"created":"2023-01-04T20:39:48.389905+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.307","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Premature ovarian insufficiency, HP:0008209\nList of related panels changed from  to Premature ovarian insufficiency; HP:0008209","entity_name":null,"entity_type":null},{"created":"2023-01-04T20:34:53.900036+11:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Decreased immunoglobulin level, HP:0041078\nList of related panels changed from  to Decreased immunoglobulin level; HP:0041078","entity_name":null,"entity_type":null},{"created":"2023-01-04T20:33:30.529957+11:00","panel_name":"Porphyria","panel_id":3077,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Porphyria, MONDO:0037939;Abnormal circulating porphyrin concentration, HP:0010472\nList of related panels changed from  to Porphyria; MONDO:0037939;Abnormal circulating porphyrin concentration; HP:0010472","entity_name":null,"entity_type":null},{"created":"2023-01-04T20:31:44.548213+11:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Polymicrogyria, HP:0002126;Schizencephaly, HP:0010636\nList of related panels changed from  to Polymicrogyria; HP:0002126;Schizencephaly; HP:0010636","entity_name":null,"entity_type":null},{"created":"2023-01-04T20:30:07.335294+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.264","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Polydactyly, HP:0010442\nList of related panels changed from  to Polydactyly; HP:0010442\nPanel types changed to Victorian Clinical Genetics Services; Rare Disease","entity_name":null,"entity_type":null},{"created":"2023-01-04T20:28:54.076021+11:00","panel_name":"Polycystic liver disease","panel_id":3274,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Polycystic liver disease, HP:0006557\nList of related panels changed from  to Polycystic liver disease; HP:0006557","entity_name":null,"entity_type":null},{"created":"2023-01-04T20:27:55.895619+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Hypopituitarism, HP:0040075\nList of related panels changed from  to Hypopituitarism; HP:0040075","entity_name":null,"entity_type":null},{"created":"2023-01-04T20:26:07.764581+11:00","panel_name":"Pierre Robin Sequence","panel_id":160,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Pierre Robin sequence, HP:0000201\nList of related panels changed from  to Pierre Robin sequence; HP:0000201","entity_name":null,"entity_type":null},{"created":"2023-01-04T20:24:28.866026+11:00","panel_name":"Photosensitivity Syndromes","panel_id":156,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Cutaneous photosensitivity, HP:0000992\nList of related panels changed from  to Cutaneous photosensitivity; HP:0000992","entity_name":null,"entity_type":null},{"created":"2023-01-04T20:21:52.814947+11:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Unusual infection, HP:0032101\nList of related panels changed from  to Unusual infection; HP:0032101","entity_name":null,"entity_type":null},{"created":"2023-01-04T20:20:19.623049+11:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Peroxisomal disease, MONDO:0019053\nList of related panels changed from  to Peroxisomal disease; MONDO:0019053\nPanel types changed to Victorian Clinical Genetics Services; Rare Disease","entity_name":null,"entity_type":null},{"created":"2023-01-04T20:17:31.763372+11:00","panel_name":"Periventricular Grey Matter Heterotopia","panel_id":19,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Grey matter heterotopia, HP:0002282\nList of related panels changed from  to Grey matter heterotopia; HP:0002282","entity_name":null,"entity_type":null},{"created":"2023-01-04T20:15:03.055710+11:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Paroxysmal dyskinesia, HP:0007166\nList of related panels changed from  to Paroxysmal dyskinesia; HP:0007166","entity_name":null,"entity_type":null},{"created":"2023-01-04T20:13:48.684289+11:00","panel_name":"Pancreatitis","panel_id":154,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Pancreatitis, HP:0001733\nList of related panels changed from  to Pancreatitis; HP:0001733","entity_name":null,"entity_type":null},{"created":"2023-01-04T20:12:21.749513+11:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Palmoplantar keratoderma, HP:0000982; Erythrokeratoderma, MONDO:0019270\nList of related panels changed from  to Palmoplantar keratoderma; HP:0000982; Erythrokeratoderma; MONDO:0019270","entity_name":null,"entity_type":null},{"created":"2023-01-04T20:10:22.983840+11:00","panel_name":"Pain syndromes","panel_id":3126,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Pain, HP:0012531\nList of related panels changed from  to Pain; HP:0012531","entity_name":null,"entity_type":null},{"created":"2023-01-04T20:09:34.199845+11:00","panel_name":"Overgrowth","panel_id":151,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Overgrowth, HP:0001548; Tall stature, HP:0000098; Increased body weight, HP:0004324\nList of related panels changed from  to Overgrowth; HP:0001548; Tall stature; HP:0000098; Increased body weight; HP:0004324","entity_name":null,"entity_type":null},{"created":"2023-01-04T20:07:33.631473+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Increased bone mineral density, HP:0011001\nList of related panels changed from  to Increased bone mineral density; HP:0011001","entity_name":null,"entity_type":null},{"created":"2023-01-04T20:06:20.011379+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Increased susceptibility to fractures, HP:0002659\nList of related panels changed from  to Increased susceptibility to fractures; HP:0002659","entity_name":null,"entity_type":null},{"created":"2023-01-04T16:00:40.453783+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Optic atrophy, HP:0000648\nList of related panels changed from  to Optic atrophy; HP:0000648","entity_name":null,"entity_type":null},{"created":"2023-01-04T15:59:19.743598+11:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Albinism HP:0001022; Ocular albinism, HP:0001107\nList of related panels changed from Albinism HP:0001022 to Albinism HP:0001022; Ocular albinism; HP:0001107","entity_name":null,"entity_type":null},{"created":"2023-01-04T15:56:58.936461+11:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Abnormal CSF metabolite concentration, HP:0025454\nList of related panels changed from  to Abnormal CSF metabolite concentration; HP:0025454","entity_name":null,"entity_type":null},{"created":"2023-01-04T15:54:24.815517+11:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from HP:0012675 to Iron accumulation in brain, HP:0012675\nList of related panels changed from HP:0012675 to Iron accumulation in brain; HP:0012675","entity_name":null,"entity_type":null},{"created":"2023-01-04T15:53:25.256588+11:00","panel_name":"Neurodegenerative disease - adult onset","panel_id":3374,"panel_version":"2.4","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Neurodegeneration, HP:0002180\nList of related panels changed from  to Neurodegeneration; HP:0002180","entity_name":null,"entity_type":null},{"created":"2023-01-04T15:52:16.912792+11:00","panel_name":"Myopathy Superpanel","panel_id":3101,"panel_version":"1.144","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Myopathy, HP:0003198; Muscle weakness, HP:0001324\nList of related panels changed from  to Myopathy; HP:0003198; Muscle weakness; HP:0001324","entity_name":null,"entity_type":null},{"created":"2023-01-04T15:40:15.671913+11:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Muscular dystrophy, HP:0003560; Elevated circulating creatine kinase concentration, HP:0003236\nList of related panels changed from  to Muscular dystrophy; HP:0003560; Elevated circulating creatine kinase concentration; HP:0003236","entity_name":null,"entity_type":null},{"created":"2023-01-04T15:38:25.596377+11:00","panel_name":"Multiple pterygium syndrome_Fetal akinesia sequence","panel_id":139,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Pterygium, HP:0001059; Akinesia, HP:0002304; Fetal akinesia sequence, HP:0001989\nList of related panels changed from  to Pterygium; HP:0001059; Akinesia; HP:0002304; Fetal akinesia sequence; HP:0001989","entity_name":null,"entity_type":null},{"created":"2023-01-04T15:32:59.477272+11:00","panel_name":"Mosaic skin disorders","panel_id":3472,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Abnormality of skin pigmentation, HP:0001000\nList of related panels changed from  to Abnormality of skin pigmentation; HP:0001000","entity_name":null,"entity_type":null},{"created":"2023-01-04T15:31:43.902596+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Diabetes mellitus, HP:0000819\nList of related panels changed from  to Diabetes mellitus; HP:0000819","entity_name":null,"entity_type":null},{"created":"2023-01-04T15:30:58.357012+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.851","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Increased serum lactate, HP:0002151; Abnormality of mitochondrial metabolism, HP:0003287\nList of related panels changed from  to Increased serum lactate; HP:0002151; Abnormality of mitochondrial metabolism; HP:0003287","entity_name":null,"entity_type":null},{"created":"2023-01-04T14:06:23.923152+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.180","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Microcephaly, HP:0000252\nList of related panels changed from  to Microcephaly; HP:0000252","entity_name":null,"entity_type":null},{"created":"2023-01-04T14:01:39.891768+11:00","panel_name":"Metabolic Disorders Superpanel","panel_id":3465,"panel_version":"6.125","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Abnormality of metabolism/homeostasis, HP:0001939\nList of related panels changed from  to Abnormality of metabolism/homeostasis; HP:0001939\nChanged child panels to: Congenital Disorders of Glycosylation; Miscellaneous Metabolic Disorders; Hypertension and Aldosterone disorders; Lysosomal Storage Disorder; Fatty Acid Oxidation Defects; Neurotransmitter Defects; Glycogen Storage Diseases; Disorders of branched chain amino acid metabolism; Mitochondrial disease; Rhabdomyolysis; Calcium and Phosphate disorders; Peroxisomal Disorders; Dyslipidaemia; Iron metabolism disorders; Vitamin C Pathway Disorders; Porphyria; Hyperammonaemia","entity_name":null,"entity_type":null},{"created":"2023-01-04T13:58:40.785367+11:00","panel_name":"Melanoma","panel_id":3279,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Melanoma, HP:0002861\nList of related panels changed from  to Melanoma; HP:0002861","entity_name":null,"entity_type":null},{"created":"2023-01-04T13:58:05.084892+11:00","panel_name":"Medulloblastoma","panel_id":3280,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Medulloblastoma, HP:0002885\nList of related panels changed from  to Medulloblastoma; HP:0002885","entity_name":null,"entity_type":null},{"created":"2023-01-04T13:56:31.552172+11:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Craniofacial dysostosis, HP:0004439\nList of related panels changed from  to Craniofacial dysostosis; HP:0004439","entity_name":null,"entity_type":null},{"created":"2023-01-04T13:55:01.079665+11:00","panel_name":"Malignant Hyperthermia Susceptibility","panel_id":3378,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Malignant hyperthermia, HP:0002047; Rhabdomyolysis, HP:0003201\nList of related panels changed from  to Malignant hyperthermia; HP:0002047; Rhabdomyolysis; HP:0003201","entity_name":null,"entity_type":null},{"created":"2023-01-04T13:53:29.955748+11:00","panel_name":"Malformations of cortical development_Superpanel","panel_id":3136,"panel_version":"4.44","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Abnormal cerebral cortex morphology, HP:0002538\nList of related panels changed from  to Abnormal cerebral cortex morphology; HP:0002538","entity_name":null,"entity_type":null},{"created":"2023-01-04T13:52:31.354237+11:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"panel","text":"HPO terms changed from  to Macular dystrophy, HP:0007754\nList of related panels changed from  to Macular dystrophy; HP:0007754","entity_name":null,"entity_type":null}]}