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"count": 221303,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=238",
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{
"created": "2025-05-01T09:37:11.898603+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2525",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mon1a has been classified as Amber List (Moderate Evidence).",
"entity_name": "MON1A",
"entity_type": "gene"
},
{
"created": "2025-05-01T09:37:04.428226+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2525",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MON1A as Amber List (moderate evidence)",
"entity_name": "MON1A",
"entity_type": "gene"
},
{
"created": "2025-05-01T09:37:04.421282+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2525",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mon1a has been classified as Amber List (Moderate Evidence).",
"entity_name": "MON1A",
"entity_type": "gene"
},
{
"created": "2025-05-01T09:36:47.775813+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MON1A as ready",
"entity_name": "MON1A",
"entity_type": "gene"
},
{
"created": "2025-05-01T09:36:47.763474+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mon1a has been classified as Amber List (Moderate Evidence).",
"entity_name": "MON1A",
"entity_type": "gene"
},
{
"created": "2025-05-01T09:36:43.665124+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MON1A as Amber List (moderate evidence)",
"entity_name": "MON1A",
"entity_type": "gene"
},
{
"created": "2025-05-01T09:36:43.657639+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mon1a has been classified as Amber List (Moderate Evidence).",
"entity_name": "MON1A",
"entity_type": "gene"
},
{
"created": "2025-05-01T09:35:36.997014+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2524",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MON1A was added\ngene: MON1A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MON1A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MON1A were set to 40174224\nPhenotypes for gene: MON1A were set to Congenital diarrhea MONDO:0000824\nReview for gene: MON1A was set to AMBER\nAdded comment: Sources: Literature",
"entity_name": "MON1A",
"entity_type": "gene"
},
{
"created": "2025-05-01T09:35:34.009532+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MON1A was added\ngene: MON1A was added to Congenital Diarrhoea. Sources: Literature\nMode of inheritance for gene: MON1A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MON1A were set to 40174224\nPhenotypes for gene: MON1A were set to Congenital diarrhea MONDO:0000824\nReview for gene: MON1A was set to AMBER\nAdded comment: A single homozygous (R249C) case with congenital diarrhoea from a consanguineous family. Supporting in vitro assays and expression studies in the patient cells. Also, a knockout zebrafish model that had a phenotype consistent with enteropathy. \nSources: Literature",
"entity_name": "MON1A",
"entity_type": "gene"
},
{
"created": "2025-04-30T22:50:43.495732+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.77",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: TUBA1C was added\ngene: TUBA1C was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: TUBA1C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TUBA1C were set to 39209701\nPhenotypes for gene: TUBA1C were set to Oocyte/zygote/embryo maturation arrest\nReview for gene: TUBA1C was set to GREEN\nAdded comment: New paper (biallelic variants for OZEMA)-\r\ni) PMID: 39209701- patients 1 and 2 from unrelated families with primary infertility experiencing recurrent preimplantation embryo development arrest (RPEA) carrying homozygous nonsense variant (p.Gln358Ter) and frameshift deletion variant (p.Tyr444Metfs*42), respectively. Transfection studies showed that both variants caused a significant decrease in the abundance of encoded proteins and abnormal cytoplasmic localisation manifested as localised protein aggregation. \nSources: Literature",
"entity_name": "TUBA1C",
"entity_type": "gene"
},
{
"created": "2025-04-30T22:48:05.365982+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.77",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "edited their review of gene: TUBA4A: Changed publications: 39209701, 37024973, 39872894",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2025-04-30T22:47:48.664848+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.77",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "changed review comment from: New papers reporting biallelic and monoallelic variants associated with OZEMA:\r\ni) PMID: 39209701- patients 3 and 4 from unrelated families with primary infertility experiencing recurrent preimplantation embryo development arrest (RPEA) carried homozygous frameshift deletion variant c.1319_1320del (p.Tyr440Ter) and missense variant c.1015C>T (p.Arg339Cys) of TUBA4A, respectively. Transfection studies showed that caused both variants caused a significant decrease in the abundance of encoded proteins and abnormal cytoplasmic localisation manifested as localised protein aggregation. Differentially abundant transcripts in arrested embryos carrying the missense TUBA4A variant exhibited a trend of upregulation and were highly enriched in the mRNA metabolic process, and some key genes involved in degradation, such as MOS and PABPN1L have been shown to be significantly downregulated.\r\n\r\nii) PMID: 37024973 - reported three unrelated infertile females with similar phenotypes of embryonic arrest carrying different de novo heterozygous missense variants (pE77K, pL286P, p.C347K). Functional study showed that all the three mutant proteins caused severe microtubule destabilization. They also identified additional nine sporadic cases (seven were with phenotype of early embryonic arrest and two with phenotype of oocyte maturation arrest) with eight different heterozygous missense TUBA4A variants. Functional study showed that six out of the eight variants (R215H, R229C, A273V, E284K, A314V, and R373H) were incorporated in microtubules with a more severely abnormal appearance. Microinjection of TUBA4A mutant cRNAs (8 out of 11 variants) significantly reduced the rate of first polar body extrusion to 24.5–66.3% and microinjection of TUBA4A mutant cRNAs (6 out of 11 variants) also resulted in embryonic development arrest and reduced the rate of blastocyst formation to 51.0–65.0%.\r\n\r\niii) PMID: 39872894- Three isolated infertile female with zygotic arrest carrying heterozygous missense variants (P1- de novo p.E284K, P2- p.E284G, P3- p.E284K). Injection of mRNA encoding E284G and E284K mutants into mouse GV oocytes showed highly disrupted spindle morphology and apparent chromosome misalignment, only about 30% E284G- and E284K-injected oocytes completed meiosis I. \nSources: Literature; to: New papers reporting biallelic and monoallelic variants associated with OZEMA:\r\ni) PMID: 39209701- Patients 3 and 4 from unrelated families with primary infertility experiencing recurrent preimplantation embryo development arrest (RPEA) carried homozygous frameshift deletion variant p.Tyr440Ter and missense variant p.Arg339Cys respectively. Transfection studies showed that caused both variants caused a significant decrease in the abundance of encoded proteins and abnormal cytoplasmic localisation manifested as localised protein aggregation. Differentially abundant transcripts in arrested embryos carrying the missense TUBA4A variant exhibited a trend of upregulation and were highly enriched in the mRNA metabolic process, and some key genes involved in degradation, such as MOS and PABPN1L have been shown to be significantly downregulated.\r\n\r\nii) PMID: 37024973 - Three unrelated infertile females with similar phenotypes of embryonic arrest carrying different de novo heterozygous missense variants (pE77K, pL286P, p.C347K). Functional study showed that all the three mutant proteins caused severe microtubule destabilization. They also identified additional nine sporadic cases (seven were with phenotype of early embryonic arrest and two with phenotype of oocyte maturation arrest) with eight different heterozygous missense TUBA4A variants. Functional study showed that six out of the eight variants (R215H, R229C, A273V, E284K, A314V, and R373H) were incorporated in microtubules with a more severely abnormal appearance. Microinjection of TUBA4A mutant cRNAs (8 out of 11 variants) significantly reduced the rate of first polar body extrusion to 24.5–66.3% and microinjection of TUBA4A mutant cRNAs (6 out of 11 variants) also resulted in embryonic development arrest and reduced the rate of blastocyst formation to 51.0–65.0%.\r\n\r\niii) PMID: 39872894- Three isolated infertile female with zygotic arrest carrying heterozygous missense variants (P1- de novo p.E284K, P2- p.E284G, P3- p.E284K). Injection of mRNA encoding E284G and E284K mutants into mouse GV oocytes showed highly disrupted spindle morphology and apparent chromosome misalignment, only about 30% E284G- and E284K-injected oocytes completed meiosis I. \r\nSources: Literature",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2025-04-30T22:46:55.899007+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.77",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "edited their review of gene: TUBA4A: Changed rating: GREEN",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2025-04-30T22:46:49.871772+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.77",
"user_name": "Jasmine Chew",
"item_type": "entity",
"text": "gene: TUBA4A was added\ngene: TUBA4A was added to Infertility and Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: TUBA4A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: TUBA4A were set to 39209701; 37024973; 37024973\nPhenotypes for gene: TUBA4A were set to Oocyte/zygote/embryo maturation arrest\nAdded comment: New papers reporting biallelic and monoallelic variants associated with OZEMA:\r\ni) PMID: 39209701- patients 3 and 4 from unrelated families with primary infertility experiencing recurrent preimplantation embryo development arrest (RPEA) carried homozygous frameshift deletion variant c.1319_1320del (p.Tyr440Ter) and missense variant c.1015C>T (p.Arg339Cys) of TUBA4A, respectively. Transfection studies showed that caused both variants caused a significant decrease in the abundance of encoded proteins and abnormal cytoplasmic localisation manifested as localised protein aggregation. Differentially abundant transcripts in arrested embryos carrying the missense TUBA4A variant exhibited a trend of upregulation and were highly enriched in the mRNA metabolic process, and some key genes involved in degradation, such as MOS and PABPN1L have been shown to be significantly downregulated.\r\n\r\nii) PMID: 37024973 - reported three unrelated infertile females with similar phenotypes of embryonic arrest carrying different de novo heterozygous missense variants (pE77K, pL286P, p.C347K). Functional study showed that all the three mutant proteins caused severe microtubule destabilization. They also identified additional nine sporadic cases (seven were with phenotype of early embryonic arrest and two with phenotype of oocyte maturation arrest) with eight different heterozygous missense TUBA4A variants. Functional study showed that six out of the eight variants (R215H, R229C, A273V, E284K, A314V, and R373H) were incorporated in microtubules with a more severely abnormal appearance. Microinjection of TUBA4A mutant cRNAs (8 out of 11 variants) significantly reduced the rate of first polar body extrusion to 24.5–66.3% and microinjection of TUBA4A mutant cRNAs (6 out of 11 variants) also resulted in embryonic development arrest and reduced the rate of blastocyst formation to 51.0–65.0%.\r\n\r\niii) PMID: 39872894- Three isolated infertile female with zygotic arrest carrying heterozygous missense variants (P1- de novo p.E284K, P2- p.E284G, P3- p.E284K). Injection of mRNA encoding E284G and E284K mutants into mouse GV oocytes showed highly disrupted spindle morphology and apparent chromosome misalignment, only about 30% E284G- and E284K-injected oocytes completed meiosis I. \nSources: Literature",
"entity_name": "TUBA4A",
"entity_type": "gene"
},
{
"created": "2025-04-30T19:42:56.775402+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "1.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FOXM1 as ready",
"entity_name": "FOXM1",
"entity_type": "gene"
},
{
"created": "2025-04-30T19:42:56.766638+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "1.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: foxm1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FOXM1",
"entity_type": "gene"
},
{
"created": "2025-04-30T19:42:51.772255+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "1.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FOXM1 as Amber List (moderate evidence)",
"entity_name": "FOXM1",
"entity_type": "gene"
},
{
"created": "2025-04-30T19:42:51.763893+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "1.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: foxm1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FOXM1",
"entity_type": "gene"
},
{
"created": "2025-04-30T19:42:31.421719+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FOXM1 as ready",
"entity_name": "FOXM1",
"entity_type": "gene"
},
{
"created": "2025-04-30T19:42:31.415358+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: foxm1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FOXM1",
"entity_type": "gene"
},
{
"created": "2025-04-30T19:42:28.000140+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FOXM1 as Amber List (moderate evidence)",
"entity_name": "FOXM1",
"entity_type": "gene"
},
{
"created": "2025-04-30T19:42:27.993700+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: foxm1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FOXM1",
"entity_type": "gene"
},
{
"created": "2025-04-30T19:29:55.980765+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2523",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GAP43 as ready",
"entity_name": "GAP43",
"entity_type": "gene"
},
{
"created": "2025-04-30T19:29:55.974899+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2523",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gap43 has been classified as Red List (Low Evidence).",
"entity_name": "GAP43",
"entity_type": "gene"
},
{
"created": "2025-04-30T19:24:27.941672+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2523",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GAP43 as Red List (low evidence)",
"entity_name": "GAP43",
"entity_type": "gene"
},
{
"created": "2025-04-30T19:24:27.932631+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2523",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gap43 has been classified as Red List (Low Evidence).",
"entity_name": "GAP43",
"entity_type": "gene"
},
{
"created": "2025-04-30T19:23:11.247874+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "1.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FOXM1 was added\ngene: FOXM1 was added to Cerebral vascular malformations. Sources: Literature\nMode of inheritance for gene: FOXM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXM1 were set to 38969938\nPhenotypes for gene: FOXM1 were set to Moyamoya disease MONDO:0016820",
"entity_name": "FOXM1",
"entity_type": "gene"
},
{
"created": "2025-04-30T19:22:22.083052+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "1.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FOXM1 was added\ngene: FOXM1 was added to Stroke. Sources: Literature\nMode of inheritance for gene: FOXM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXM1 were set to 38969938\nPhenotypes for gene: FOXM1 were set to Moyamoya disease MONDO:0016820",
"entity_name": "FOXM1",
"entity_type": "gene"
},
{
"created": "2025-04-30T19:20:43.783553+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2522",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FOXM1 as ready",
"entity_name": "FOXM1",
"entity_type": "gene"
},
{
"created": "2025-04-30T19:20:43.776961+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2522",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: foxm1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FOXM1",
"entity_type": "gene"
},
{
"created": "2025-04-30T19:19:29.865766+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2522",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FOXM1 as Amber List (moderate evidence)",
"entity_name": "FOXM1",
"entity_type": "gene"
},
{
"created": "2025-04-30T19:19:29.859594+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2522",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: foxm1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FOXM1",
"entity_type": "gene"
},
{
"created": "2025-04-30T19:14:55.233463+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GRWD1 as ready",
"entity_name": "GRWD1",
"entity_type": "gene"
},
{
"created": "2025-04-30T19:14:55.226378+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: grwd1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GRWD1",
"entity_type": "gene"
},
{
"created": "2025-04-30T19:14:25.002790+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2521",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GRWD1 as ready",
"entity_name": "GRWD1",
"entity_type": "gene"
},
{
"created": "2025-04-30T19:14:24.992816+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2521",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: grwd1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GRWD1",
"entity_type": "gene"
},
{
"created": "2025-04-30T19:12:18.427122+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GRWD1 as Amber List (moderate evidence)",
"entity_name": "GRWD1",
"entity_type": "gene"
},
{
"created": "2025-04-30T19:12:18.415818+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: grwd1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GRWD1",
"entity_type": "gene"
},
{
"created": "2025-04-30T19:08:36.592210+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2521",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GRWD1 as Amber List (moderate evidence)",
"entity_name": "GRWD1",
"entity_type": "gene"
},
{
"created": "2025-04-30T19:08:36.583433+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2521",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: grwd1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GRWD1",
"entity_type": "gene"
},
{
"created": "2025-04-30T19:08:35.394105+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "1.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GRWD1 was added\ngene: GRWD1 was added to Congenital Diarrhoea. Sources: Literature\nMode of inheritance for gene: GRWD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GRWD1 were set to 40174224\nPhenotypes for gene: GRWD1 were set to Congenital diarrhoea MONDO:0000824\nReview for gene: GRWD1 was set to AMBER\nAdded comment: Single family (sib pair) with biallelic missense variants. Supporting zebrafish model and in vitro functional assays. Deficiency is the expected mechanism of disease. \nSources: Literature",
"entity_name": "GRWD1",
"entity_type": "gene"
},
{
"created": "2025-04-30T19:08:21.039455+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2520",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GRWD1 was added\ngene: GRWD1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GRWD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GRWD1 were set to 40174224\nPhenotypes for gene: GRWD1 were set to Congenital diarrhoea MONDO:0000824\nReview for gene: GRWD1 was set to AMBER\nAdded comment: Single family (sib pair) with biallelic missense variants. Supporting zebrafish model and in vitro functional assays. Deficiency is the expected mechanism of disease. \nSources: Literature",
"entity_name": "GRWD1",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:44:17.107831+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDM5C as ready",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:44:17.101233+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm5c has been classified as Green List (High Evidence).",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:44:14.606691+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDM5C were changed from Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3) to Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type; MIM#300534",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:44:03.521622+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KDM5C were set to ",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:43:43.440145+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNQ1 as ready",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:43:43.432856+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnq1 has been classified as Green List (High Evidence).",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:43:41.158531+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNQ1 were changed from Jervell and Lange-Nielsen syndrome, 220400 (3) to Jervell and Lange-Nielsen syndrome MIM#220400",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:43:30.677738+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNQ1 were set to 29033053; 28438721",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:42:59.678210+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ11 as ready",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:42:59.671437+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj11 has been classified as Green List (High Evidence).",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:42:57.305478+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ11 were changed from Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3) to Hyperinsulinemic hypoglycemia, familial, 2, MIM#601820",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:42:46.268028+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNJ11 were set to ",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:42:05.674957+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ1 as ready",
"entity_name": "KCNJ1",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:42:05.664745+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj1 has been classified as Green List (High Evidence).",
"entity_name": "KCNJ1",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:42:03.101714+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ1 were changed from Bartter syndrome, type 2, 241200 (3) to Bartter syndrome, type 2, MIM#241200",
"entity_name": "KCNJ1",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:41:44.329339+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KATNB1 as ready",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:41:44.321763+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: katnb1 has been classified as Green List (High Evidence).",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:41:42.260148+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KATNB1 were changed from Lissencephaly 6, with microcephaly, 616212 (3) to Lissencephaly 6, with microcephaly, MIM#616212",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:41:32.177827+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KATNB1 were set to ",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:41:14.231908+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JAK3 as ready",
"entity_name": "JAK3",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:41:14.220910+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jak3 has been classified as Green List (High Evidence).",
"entity_name": "JAK3",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:41:12.232502+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: JAK3 were changed from SCID, autosomal recessive, T-negative/B-positive type, 600802 (3) to Severe combined immunodeficiency, autosomal recessive, T-negative/B-positive type MIM#600802",
"entity_name": "JAK3",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:41:02.614190+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: JAK3 were set to ",
"entity_name": "JAK3",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:40:15.687563+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IVD as ready",
"entity_name": "IVD",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:40:15.680642+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ivd has been classified as Green List (High Evidence).",
"entity_name": "IVD",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:40:13.649100+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IVD were changed from Isovaleric acidemia, 243500 (3) to Isovaleric acidemia, MIM #243500",
"entity_name": "IVD",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:40:04.796234+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IVD were set to ",
"entity_name": "IVD",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:36:19.581655+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITPR1 as ready",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:36:19.574971+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itpr1 has been classified as Green List (High Evidence).",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:36:16.732824+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITPR1 were changed from Gillespie syndrome, 206700 (3), Autosomal recessive to Gillespie syndrome, MIM# 206700",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:36:01.316677+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITPR1 were set to ",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:35:38.020263+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITGB4 as ready",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:35:38.009751+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itgb4 has been classified as Green List (High Evidence).",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:35:35.624190+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITGB4 were changed from Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3) to Epidermolysis bullosa, junctional 5B, with pyloric atresia, MIM#226730",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:35:27.232274+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITGB4 were set to ",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:34:47.183248+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITGA6 as ready",
"entity_name": "ITGA6",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:34:47.176276+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itga6 has been classified as Green List (High Evidence).",
"entity_name": "ITGA6",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:34:45.046165+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITGA6 were changed from Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3) to Epidermolysis bullosa, junctional 6, with pyloric atresia (MIM#619817)",
"entity_name": "ITGA6",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:34:19.476451+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IQSEC2 as ready",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:34:19.466223+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iqsec2 has been classified as Green List (High Evidence).",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:34:15.060173+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IQSEC2 were set to ",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:33:53.467311+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INVS as ready",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:33:53.457595+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: invs has been classified as Green List (High Evidence).",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:33:51.311556+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INVS were changed from Nephronophthisis 2, infantile, 602088 (3) to Nephronophthisis 2, infantile, (MIM#602088)",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:33:28.690086+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INPP5E as ready",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:33:28.680160+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: inpp5e has been classified as Green List (High Evidence).",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:33:25.773268+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INPP5E were changed from Joubert syndrome 1, 213300 (3) to Joubert syndrome 1, MIM# 213300; MONDO:0008944",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:33:14.610917+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: INPP5E were set to ",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:32:48.322422+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL7R as ready",
"entity_name": "IL7R",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:32:48.312341+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il7r has been classified as Green List (High Evidence).",
"entity_name": "IL7R",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:32:29.596703+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL2RG as ready",
"entity_name": "IL2RG",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:32:29.584926+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il2rg has been classified as Green List (High Evidence).",
"entity_name": "IL2RG",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:32:26.887148+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL2RG were changed from Severe combined immunodeficiency, X-linked, 300400 (3) to Severe combined immunodeficiency, X-linked, MIM#300400",
"entity_name": "IL2RG",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:32:03.887475+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL1RAPL1 as ready",
"entity_name": "IL1RAPL1",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:32:03.880989+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il1rapl1 has been classified as Green List (High Evidence).",
"entity_name": "IL1RAPL1",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:32:01.600205+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL1RAPL1 were changed from Mental retardation, X-linked 21/34, 300143 (3) to Intellectual developmental disorder, X-linked 21, MIM#300143",
"entity_name": "IL1RAPL1",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:31:52.224906+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IL1RAPL1 were set to ",
"entity_name": "IL1RAPL1",
"entity_type": "gene"
},
{
"created": "2025-04-30T16:31:24.749320+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IKBKB as ready",
"entity_name": "IKBKB",
"entity_type": "gene"
}
]
}