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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=640",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=638",
"results": [
{
"created": "2023-02-02T14:57:37.255897+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRU-TCA1-1 as ready",
"entity_name": "TRU-TCA1-1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:57:37.247767+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tru-tca1-1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRU-TCA1-1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:57:26.533128+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRU-TCA1-1 were changed from Hyperthyroidism MONDO:0004425 to Inherited thyroid metabolism disease, MONDO:0045046, TRU-TCA1-1 related",
"entity_name": "TRU-TCA1-1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:57:09.442975+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1832",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: CAMLG as Red List (low evidence)",
"entity_name": "CAMLG",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:57:09.432937+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1832",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: camlg has been classified as Red List (Low Evidence).",
"entity_name": "CAMLG",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:57:01.984251+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.645",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRU-TCA1-1 as Amber List (moderate evidence)",
"entity_name": "TRU-TCA1-1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:57:01.975287+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.645",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tru-tca1-1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRU-TCA1-1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:56:58.025019+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.33",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: CAMLG as Red List (low evidence)",
"entity_name": "CAMLG",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:56:57.959298+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.33",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: camlg has been classified as Red List (Low Evidence).",
"entity_name": "CAMLG",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:56:24.222797+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRU-TCA1-1 as Amber List (moderate evidence)",
"entity_name": "TRU-TCA1-1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:56:24.209179+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tru-tca1-1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRU-TCA1-1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:56:22.335892+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.644",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C1GALT1C1 were changed from Tn polyagglutination syndrome, somatic MIM#300622 to Tn polyagglutination syndrome, somatic MIM#300622; atypical haemolytic-uremic syndrome MONDO#0016244, C1GALT1C1-related",
"entity_name": "C1GALT1C1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:56:22.239731+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1831",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: CAMLG as ready",
"entity_name": "CAMLG",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:56:22.215138+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1831",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: camlg has been classified as Red List (Low Evidence).",
"entity_name": "CAMLG",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:56:17.553731+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.32",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: CAMLG as ready",
"entity_name": "CAMLG",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:56:17.539647+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.32",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: camlg has been classified as Red List (Low Evidence).",
"entity_name": "CAMLG",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:55:49.369464+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.643",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C1GALT1C1 were set to 18537974; 16251947",
"entity_name": "C1GALT1C1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:55:40.523828+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1831",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: CAMLG as Red List (low evidence)",
"entity_name": "CAMLG",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:55:40.513235+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1831",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: camlg has been classified as Red List (Low Evidence).",
"entity_name": "CAMLG",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:55:29.372819+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.32",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: CAMLG as Red List (low evidence)",
"entity_name": "CAMLG",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:55:29.363140+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.32",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: camlg has been classified as Red List (Low Evidence).",
"entity_name": "CAMLG",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:55:21.665848+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.359",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: CAMLG as ready",
"entity_name": "CAMLG",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:55:21.644873+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.359",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: camlg has been classified as Red List (Low Evidence).",
"entity_name": "CAMLG",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:55:21.505721+11:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRU-TCA1-1 as ready",
"entity_name": "TRU-TCA1-1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:55:21.419117+11:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tru-tca1-1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRU-TCA1-1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:55:18.323045+11:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRU-TCA1-1 were changed from Hyperthyroidism MONDO:0004425 to Inherited thyroid metabolism disease, MONDO:0045046, TRU-TCA1-1 related",
"entity_name": "TRU-TCA1-1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:55:11.312635+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.642",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: CAMLG as ready",
"entity_name": "CAMLG",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:55:11.291057+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.642",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: camlg has been classified as Red List (Low Evidence).",
"entity_name": "CAMLG",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:55:08.819561+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.642",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: C1GALT1C1: Added comment: Red association for aHUS\r\n\r\n1x male with de novo p.(Thr89Ile) which is absent in gnomAD v2 and v3 and has very high conservation; Changed publications: 18537974, 16251947, 36599939; Changed phenotypes: Tn polyagglutination syndrome, somatic MIM#300622, atypical haemolytic-uremic syndrome MONDO#0016244, C1GALT1C1-related",
"entity_name": "C1GALT1C1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:54:54.436407+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.642",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: CAMLG were changed from Congenital disorder of glycosylation type IIz, 620201 to Congenital disorder of glycosylation type IIz, OMIM# 620201",
"entity_name": "CAMLG",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:54:41.425103+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.359",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: CAMLG as Red List (low evidence)",
"entity_name": "CAMLG",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:54:41.415273+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.359",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: camlg has been classified as Red List (Low Evidence).",
"entity_name": "CAMLG",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:54:39.546301+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.49",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: C1GALT1C1: Changed phenotypes: atypical haemolytic-uremic syndrome MONDO#0016244, C1GALT1C1-related",
"entity_name": "C1GALT1C1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:54:06.413461+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.49",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: C1GALT1C1 as ready",
"entity_name": "C1GALT1C1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:54:06.399995+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.49",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c1galt1c1 has been classified as Red List (Low Evidence).",
"entity_name": "C1GALT1C1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:53:49.090882+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.641",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: CAMLG as Red List (low evidence)",
"entity_name": "CAMLG",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:53:49.079065+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.641",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: camlg has been classified as Red List (Low Evidence).",
"entity_name": "CAMLG",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:53:41.676342+11:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRU-TCA1-1 as Amber List (moderate evidence)",
"entity_name": "TRU-TCA1-1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:53:41.668263+11:00",
"panel_name": "Hyperthyroidism",
"panel_id": 3372,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tru-tca1-1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRU-TCA1-1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:53:39.921849+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.641",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: SPRY1 were changed from to Craniosynostosis, SPRY1-related, MONDO:0015469",
"entity_name": "SPRY1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:53:20.529582+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.47",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: SPRY1 were changed from Craniosynostosis, SPRY1-related, MONDO:0015469 to Craniosynostosis, SPRY1-related, MONDO:0015469",
"entity_name": "SPRY1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:53:17.155326+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.49",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: C1GALT1C1 was added\ngene: C1GALT1C1 was added to Atypical Haemolytic Uraemic Syndrome_MPGN. Sources: Literature\nMode of inheritance for gene: C1GALT1C1 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: C1GALT1C1 were set to 36599939\nPhenotypes for gene: C1GALT1C1 were set to atypical hemolytic-uremic syndrome MONDO#0016244, C1GALT1C1-related\nReview for gene: C1GALT1C1 was set to RED\ngene: C1GALT1C1 was marked as current diagnostic\nAdded comment: 1x male with de novo p.(Thr89Ile) which is absent in gnomAD v2 and v3 and has very high conservation \nSources: Literature",
"entity_name": "C1GALT1C1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:53:07.015263+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.640",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: SPRY1 were set to ",
"entity_name": "SPRY1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:53:00.312105+11:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "1.19",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: MIR145 was added\ngene: MIR145 was added to Gastrointestinal neuromuscular disease. Sources: Literature\nMode of inheritance for gene: MIR145 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MIR145 were set to 36649075\nPhenotypes for gene: MIR145 were set to multisystemic smooth muscle dysfunction syndrome (MONDO:0013452)\nReview for gene: MIR145 was set to RED\nAdded comment: PMID: 36649075- a patient whose fetal ultrasound revealed polyhydramnios, enlarged abdomenand bladder, and prune belly syndrome. During infancy/childhood profound gastrointestinal dysmotility, cerebrovascular disease, and multiple strokes. Described as a multisystemic smooth muscle dysfunction syndrome. Patient was found to have a de novo SNP in MIR145 NR_029686.1:n.18C>A. The MIR145transcript is processed into two microRNAs, with the variant position at nucleotide 3 of miR-145-5p. \r\n\r\nTransfection of an siRNA against mutant miR145-5p induced a notable decrease in the expression of several cytoskeletal proteins including transgelin, calponin, and importantly, smooth muscle actin. Hybridization analysis and miR RNA-seq demonstrated a decrease in expression of miR145-5p in the presence of mutant miR145-5p. RNA-seq showed that the differentially expressed genes were substantially different between patient and control fibroblasts. \nSources: Literature",
"entity_name": "MIR145",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:52:57.746464+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.639",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPRY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPRY1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:52:34.045249+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.638",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: SPRY1 as Amber List (moderate evidence)",
"entity_name": "SPRY1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:52:34.033261+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.638",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: spry1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPRY1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:52:33.422480+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.47",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: SPRY1 as Amber List (moderate evidence)",
"entity_name": "SPRY1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:52:33.377929+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.47",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: spry1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPRY1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:52:20.841864+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC84 as ready",
"entity_name": "CCDC84",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:52:20.825034+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc84 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC84",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:52:14.570556+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC84 as Amber List (moderate evidence)",
"entity_name": "CCDC84",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:52:14.559385+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc84 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC84",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:51:39.553766+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.47",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: SPRY1 were changed from raniosynostosis MONDO:0015469 to Craniosynostosis, SPRY1-related, MONDO:0015469",
"entity_name": "SPRY1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:51:20.040471+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.637",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: SPRY1 as Amber List (moderate evidence)",
"entity_name": "SPRY1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:51:20.026310+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.637",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: spry1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPRY1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:51:10.955328+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.57",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SPTSSA as ready",
"entity_name": "SPTSSA",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:51:10.946974+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.57",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sptssa has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPTSSA",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:50:55.261666+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC84 as ready",
"entity_name": "CCDC84",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:50:55.247791+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc84 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC84",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:50:54.775313+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.47",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: SPRY1 as Amber List (moderate evidence)",
"entity_name": "SPRY1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:50:54.761098+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.47",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: spry1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPRY1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:50:51.658834+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.57",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SPTSSA as Amber List (moderate evidence)",
"entity_name": "SPTSSA",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:50:51.644799+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.57",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sptssa has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPTSSA",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:50:38.342630+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.46",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: SPRY1 as ready",
"entity_name": "SPRY1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:50:38.333144+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.46",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: spry1 has been classified as Red List (Low Evidence).",
"entity_name": "SPRY1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:50:37.439922+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC84 as Amber List (moderate evidence)",
"entity_name": "CCDC84",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:50:37.430827+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc84 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC84",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:50:02.393179+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.635",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: SPRY1: Rating: AMBER; Mode of pathogenicity: None; Publications: 36543535; Phenotypes: Craniosynostosis, SPRY1-related, MONDO:0015469; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPRY1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:49:44.184839+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC84 as ready",
"entity_name": "CCDC84",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:49:44.173223+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc84 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC84",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:49:33.871101+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC84 as Amber List (moderate evidence)",
"entity_name": "CCDC84",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:49:33.861800+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc84 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCDC84",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:49:09.950680+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.46",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: SPRY1 was added\ngene: SPRY1 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: SPRY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPRY1 were set to 36543535\nPhenotypes for gene: SPRY1 were set to raniosynostosis MONDO:0015469\nReview for gene: SPRY1 was set to AMBER\nAdded comment: no homozygous PTCs in gnomAD\r\n\r\nPMID: 36543535: \r\n- Hom null mutant mice display kidney/urinary tract abnormalities and altered size of the skull, het mice were normal\r\n- 1 hom proband (3' NMD escape PTC) with sagittal craniosynostosis\r\n- Functional studies proved NMD escape, but loss of full length protein \nSources: Literature",
"entity_name": "SPRY1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:47:42.268622+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.635",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: TPCN2: Rating: AMBER; Mode of pathogenicity: Other; Publications: 36641477; Phenotypes: Hypopigmentation of the skin, TPCN2-related MONDO:0019290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "TPCN2",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:47:14.603880+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.635",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: MIR145 was added\ngene: MIR145 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MIR145 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MIR145 were set to 36649075\nPhenotypes for gene: MIR145 were set to multisystemic smooth muscle dysfunction syndrome (MONDO:0013452), MIR145-related\nReview for gene: MIR145 was set to RED\nAdded comment: PMID: 36649075- a patient whose fetal ultrasound revealed polyhydramnios, enlarged abdomenand bladder, and prune belly syndrome. During infancy/childhood profound gastrointestinal dysmotility, cerebrovascular disease, and multiple strokes. Described as a multisystemic smooth muscle dysfunction syndrome. Patient was found to have a de novo SNP in MIR145 NR_029686.1:n.18C>A. The MIR145transcript is processed into two microRNAs, with the variant position at nucleotide 3 of miR-145-5p. \r\n\r\nTransfection of an siRNA against mutant miR145-5p induced a notable decrease in the expression of several cytoskeletal proteins including transgelin, calponin, and importantly, smooth muscle actin. Hybridization analysis and miR RNA-seq demonstrated a decrease in expression of miR145-5p in the presence of mutant miR145-5p. RNA-seq showed that the differentially expressed genes were substantially different between patient and control fibroblasts. \nSources: Literature",
"entity_name": "MIR145",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:46:54.032708+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTI1 were changed from to Neurodevelopmental disorder, MONDO:0700092, TTI1-related",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:46:36.368003+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.56",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SPTSSA was added\ngene: SPTSSA was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nMode of inheritance for gene: SPTSSA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SPTSSA were set to 36718090\nPhenotypes for gene: SPTSSA were set to complex hereditary spastic paraplegia, MONDO:0015150\nReview for gene: SPTSSA was set to GREEN\nAdded comment: Three unrelated individuals with common neurological features of developmental delay, progressive motor impairment, progressive lower extremity spasticity, and epileptiform activity or seizures. Other additional features varied. \r\n\r\nTwo of the individuals had the same de-novo missense, Thr51Ile, while the third was homozygous for a late truncating variant, Gln58AlafsTer10. The patient with the hom variant was described as less severe.\r\n\r\nFunctional studies in fibroblasts showed dysregulation of the sphingolipid (SL) synthesis pathway, showing that both variants impair ORMDL regulation of the pathway leading to various levels of increased SL. Over expression of human SPTSSA was shown to lead to motor development in flies, rescued by expression of ORMDL for WT SPTSSA but not mutant SPTSSA.\r\n\r\nThe de-novo missense were shown to impact regulation more than the hom truncation, while the truncated region was shown to previously to be important for ORMDL regulation.\r\n\r\nMice with a hom KO of the functional equivalent sptssb had early onset ataxia and died prematurely, with evidence of axonic degeneration. \nSources: Literature",
"entity_name": "SPTSSA",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:46:29.958382+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TTI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:46:15.913670+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TTI1 as Green List (high evidence)",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:46:15.900014+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tti1 has been classified as Green List (High Evidence).",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:45:25.990887+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTI1 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, TTI1-related",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:45:08.458858+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.31",
"user_name": "Manny Jacobs",
"item_type": "entity",
"text": "gene: CAMLG was added\ngene: CAMLG was added to Congenital Disorders of Glycosylation. Sources: Literature\nMode of inheritance for gene: CAMLG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAMLG were set to PMID: 35262690\nPhenotypes for gene: CAMLG were set to Congenital disorder of glycosylation type IIz, OMIM #: 620201\nPenetrance for gene: CAMLG were set to unknown\nReview for gene: CAMLG was set to RED\nAdded comment: PMID: 35262690 (2022)\r\nReport one patient with hom splice variant. No other reported patients. \r\nGDD, seizures, contractures, hypotonia and brain malformations. \nSources: Literature",
"entity_name": "CAMLG",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:45:07.626816+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "1.7",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "edited their review of gene: TPCN2: Changed phenotypes: Hypopigmentation of the skin, TPCN2-related MONDO:0019290",
"entity_name": "TPCN2",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:44:56.035651+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TTI1 as Green List (high evidence)",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:44:56.028508+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tti1 has been classified as Green List (High Evidence).",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:44:32.250378+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTI1 as ready",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:44:32.239174+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tti1 has been classified as Green List (High Evidence).",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:44:27.643778+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TTI1 as Green List (high evidence)",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:44:27.634577+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tti1 has been classified as Green List (High Evidence).",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:44:02.850100+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTI1 were changed from Neurodevelopmental disorder, MONDO:0700092, TTI1-related to Neurodevelopmental disorder, MONDO:0700092, TTI1-related",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:44:02.830514+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "1.7",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: TPCN2 was added\ngene: TPCN2 was added to Ocular and Oculocutaneous Albinism. Sources: Literature\nMode of inheritance for gene: TPCN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TPCN2 were set to 36641477\nPhenotypes for gene: TPCN2 were set to Hypopigmentation of the skin MONDO:0019290\nMode of pathogenicity for gene: TPCN2 was set to Other\nReview for gene: TPCN2 was set to AMBER\ngene: TPCN2 was marked as current diagnostic\nAdded comment: A de novo variant in TPCN2, R210C, was identified in a girl who exhibited white skin, blonde hair that darkened to brown with age, no apparent nystagmus and photophobia, and normal vision acuity. Color fundus photography and optical coherence tomography (OCT) showed normal and well-developed macula and fovea. The variant has 1 het in gnomad. \r\n\r\nMice harbouring the homologous variant recapitulate the phenotype. Functional testing indicates the variant has a gain of function effect. \nSources: Literature",
"entity_name": "TPCN2",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:43:38.850274+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTI1 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, TTI1-related",
"entity_name": "TTI1",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:43:14.625086+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OGDH as Green List (high evidence)",
"entity_name": "OGDH",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:43:14.608104+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ogdh has been classified as Green List (High Evidence).",
"entity_name": "OGDH",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:43:05.524286+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OGDH as ready",
"entity_name": "OGDH",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:43:05.512557+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ogdh has been classified as Green List (High Evidence).",
"entity_name": "OGDH",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:42:55.324862+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5162",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: FICD as Amber List (moderate evidence)",
"entity_name": "FICD",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:42:55.288398+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5162",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: ficd has been classified as Amber List (Moderate Evidence).",
"entity_name": "FICD",
"entity_type": "gene"
},
{
"created": "2023-02-02T14:42:31.781100+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5161",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: FICD as Amber List (moderate evidence)",
"entity_name": "FICD",
"entity_type": "gene"
}
]
}