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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=169",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=167",
"results": [
{
"created": "2025-09-12T13:38:12.301272+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcna4 has been classified as Red List (Low Evidence).",
"entity_name": "KCNA4",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:38:05.474677+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNA4 was added\ngene: KCNA4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KCNA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNA4 were set to 40472070\nPhenotypes for gene: KCNA4 were set to Epilepsy, MONDO:0005027, KCNA4-related\nReview for gene: KCNA4 was set to RED\nAdded comment: Single individual with de novo missense variant reported. \nSources: Literature",
"entity_name": "KCNA4",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:36:29.313216+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNA4 as ready",
"entity_name": "KCNA4",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:36:29.305970+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcna4 has been classified as Red List (Low Evidence).",
"entity_name": "KCNA4",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:36:03.718285+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNA4 was added\ngene: KCNA4 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: KCNA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNA4 were set to 40472070\nPhenotypes for gene: KCNA4 were set to Epilepsy, MONDO:0005027, KCNA4-related\nReview for gene: KCNA4 was set to RED\nAdded comment: Single individual with de novo missense variant reported. \nSources: Literature",
"entity_name": "KCNA4",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:30:34.545736+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIMK1 as ready",
"entity_name": "LIMK1",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:30:34.538564+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: limk1 has been classified as Red List (Low Evidence).",
"entity_name": "LIMK1",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:30:15.486897+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIMK1 was added\ngene: LIMK1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: LIMK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LIMK1 were set to 40491492\nPhenotypes for gene: LIMK1 were set to Endocrine system disorder, MONDO:0005151, LIMK1-related\nReview for gene: LIMK1 was set to RED\nAdded comment: Two individuals reported with divergent phenotypes and divergent underlying mechanisms postulated.\r\n\r\nOne individual exhibited epileptic encephalopathy and developmental delay, while the other showed common variable immune deficiency and glucose dysregulation. Actin polymerization was significantly decreased in individual 1, whereas it was increased in individual 2. Insulin-secreting cell lines expressing the LIMK1 variant of individual 1 exhibited significantly slower exocytosis, contrasting the rapid and uncontrolled exocytosis in individual 2. Intriguingly, both variants led to increased overall insulin secretion.\r\n\r\nHold off further panel distribution until phenotypic associations clarified through further case reports. \nSources: Literature",
"entity_name": "LIMK1",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:22:14.214469+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GBX1 as ready",
"entity_name": "GBX1",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:22:14.206077+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gbx1 has been classified as Red List (Low Evidence).",
"entity_name": "GBX1",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:21:19.883578+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GBX1 was added\ngene: GBX1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: GBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GBX1 were set to 40519143\nPhenotypes for gene: GBX1 were set to Neurodevelopmental disorder, MONDO:0700092, GBX1-related\nReview for gene: GBX1 was set to RED\nAdded comment: Single individual with de novo LoF variant with DD and focal epilepsy. Zebrafish model had abnormal morphology of the interocular area. Furthermore, the zebrafish larvae exhibited an increased susceptibility to neurophysiological abnormalities associated with epileptiform activity. \nSources: Literature",
"entity_name": "GBX1",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:20:00.361924+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GBX1 as ready",
"entity_name": "GBX1",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:20:00.352404+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gbx1 has been classified as Red List (Low Evidence).",
"entity_name": "GBX1",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:19:50.484906+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GBX1 was added\ngene: GBX1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GBX1 were set to 40519143\nPhenotypes for gene: GBX1 were set to Neurodevelopmental disorder, MONDO:0700092, GBX1-related\nReview for gene: GBX1 was set to RED\nAdded comment: Single individual with de novo LoF variant with DD and focal epilepsy. Zebrafish model had abnormal morphology of the interocular area. Furthermore, the zebrafish larvae exhibited an increased susceptibility to neurophysiological abnormalities associated with epileptiform activity. \nSources: Literature",
"entity_name": "GBX1",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:18:25.852287+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GBX1 as ready",
"entity_name": "GBX1",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:18:25.843321+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gbx1 has been classified as Red List (Low Evidence).",
"entity_name": "GBX1",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:18:18.405049+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GBX1 was added\ngene: GBX1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: GBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GBX1 were set to 40519143\nPhenotypes for gene: GBX1 were set to Neurodevelopmental disorder, MONDO:0700092, GBX1-related\nReview for gene: GBX1 was set to RED\nAdded comment: Single individual with de novo LoF variant with DD and focal epilepsy. Zebrafish model had abnormal morphology of the interocular area. Furthermore, the zebrafish larvae exhibited an increased susceptibility to neurophysiological abnormalities associated with epileptiform activity. \nSources: Literature",
"entity_name": "GBX1",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:15:08.249927+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHRS3 as ready",
"entity_name": "DHRS3",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:15:08.243072+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhrs3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DHRS3",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:15:05.596236+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHRS3 as Amber List (moderate evidence)",
"entity_name": "DHRS3",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:15:05.586789+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhrs3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DHRS3",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:14:36.267664+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHRS3 was added\ngene: DHRS3 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: DHRS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHRS3 were set to 40519748\nPhenotypes for gene: DHRS3 were set to Syndromic disease, MONDO:0002254, DHRS3-related\nReview for gene: DHRS3 was set to AMBER\nAdded comment: Five homozygotes from 3 families (1 family segregating a deletion of the promoter and 5'-untranslated region of DHRS3, the other 2 a missense variant p.(Val171Met)), manifested a congruent phenotype, including coronal craniosynostosis, dysmorphic facial features, congenital heart disease (4/5 individuals), and scoliosis (5/5 individuals). Transcription of DHRS3 in whole blood cells from 2 homozygotes for the promoter/5'-untranslated region deletion was 90% to 98% reduced. Cells transfected with a DHRS3-Val171Met construct exhibited reduced retinaldehyde reduction capacity compared with wild-type, yielding reduced retinol and elevated RA; correspondingly, plasma from homozygous patients had significantly reduced retinol and elevated RA (exceeding the normal range), compared with controls and heterozygous relatives.\r\n\r\nThree additional homozygous missense variants of DHRS3 (p.(Val110Ile), p.(Gly115Asp), and p.(Glu244Gln)) were shown to reduce catalytic activity in vitro and/or in vivo but were associated with normal or different phenotypes that did not meet the threshold to assign likely pathogenicity. \nSources: Literature",
"entity_name": "DHRS3",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:13:22.909168+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHRS3 as ready",
"entity_name": "DHRS3",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:13:22.902106+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhrs3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DHRS3",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:13:18.200618+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHRS3 as Amber List (moderate evidence)",
"entity_name": "DHRS3",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:13:18.189678+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhrs3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DHRS3",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:13:08.225852+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHRS3 was added\ngene: DHRS3 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: DHRS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHRS3 were set to 40519748\nPhenotypes for gene: DHRS3 were set to Syndromic disease, MONDO:0002254, DHRS3-related\nReview for gene: DHRS3 was set to AMBER\nAdded comment: Five homozygotes from 3 families (1 family segregating a deletion of the promoter and 5'-untranslated region of DHRS3, the other 2 a missense variant p.(Val171Met)), manifested a congruent phenotype, including coronal craniosynostosis, dysmorphic facial features, congenital heart disease (4/5 individuals), and scoliosis (5/5 individuals). Transcription of DHRS3 in whole blood cells from 2 homozygotes for the promoter/5'-untranslated region deletion was 90% to 98% reduced. Cells transfected with a DHRS3-Val171Met construct exhibited reduced retinaldehyde reduction capacity compared with wild-type, yielding reduced retinol and elevated RA; correspondingly, plasma from homozygous patients had significantly reduced retinol and elevated RA (exceeding the normal range), compared with controls and heterozygous relatives.\r\n\r\nThree additional homozygous missense variants of DHRS3 (p.(Val110Ile), p.(Gly115Asp), and p.(Glu244Gln)) were shown to reduce catalytic activity in vitro and/or in vivo but were associated with normal or different phenotypes that did not meet the threshold to assign likely pathogenicity. \nSources: Literature",
"entity_name": "DHRS3",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:11:56.342606+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHRS3 as ready",
"entity_name": "DHRS3",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:11:56.334252+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhrs3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DHRS3",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:10:33.870749+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHRS3 as Amber List (moderate evidence)",
"entity_name": "DHRS3",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:10:33.858720+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhrs3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DHRS3",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:10:18.974304+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHRS3 was added\ngene: DHRS3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DHRS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHRS3 were set to 40519748\nPhenotypes for gene: DHRS3 were set to Syndromic disease, MONDO:0002254, DHRS3-related\nReview for gene: DHRS3 was set to AMBER\nAdded comment: Five homozygotes from 3 families (1 family segregating a deletion of the promoter and 5'-untranslated region of DHRS3, the other 2 a missense variant p.(Val171Met)), manifested a congruent phenotype, including coronal craniosynostosis, dysmorphic facial features, congenital heart disease (4/5 individuals), and scoliosis (5/5 individuals). Transcription of DHRS3 in whole blood cells from 2 homozygotes for the promoter/5'-untranslated region deletion was 90% to 98% reduced. Cells transfected with a DHRS3-Val171Met construct exhibited reduced retinaldehyde reduction capacity compared with wild-type, yielding reduced retinol and elevated RA; correspondingly, plasma from homozygous patients had significantly reduced retinol and elevated RA (exceeding the normal range), compared with controls and heterozygous relatives.\r\n\r\nThree additional homozygous missense variants of DHRS3 (p.(Val110Ile), p.(Gly115Asp), and p.(Glu244Gln)) were shown to reduce catalytic activity in vitro and/or in vivo but were associated with normal or different phenotypes that did not meet the threshold to assign likely pathogenicity. \nSources: Literature",
"entity_name": "DHRS3",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:08:35.452714+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHRS3 as ready",
"entity_name": "DHRS3",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:08:35.442094+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhrs3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DHRS3",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:08:30.784937+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHRS3 as Amber List (moderate evidence)",
"entity_name": "DHRS3",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:08:30.776810+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhrs3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DHRS3",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:07:39.449249+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DHRS3: Changed rating: AMBER",
"entity_name": "DHRS3",
"entity_type": "gene"
},
{
"created": "2025-09-12T13:07:34.094453+10:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHRS3 was added\ngene: DHRS3 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: DHRS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHRS3 were set to 40519748\nPhenotypes for gene: DHRS3 were set to Syndromic disease, MONDO:0002254, DHRS3-related\nReview for gene: DHRS3 was set to GREEN\nAdded comment: Five homozygotes from 3 families (1 family segregating a deletion of the promoter and 5'-untranslated region of DHRS3, the other 2 a missense variant p.(Val171Met)), manifested a congruent phenotype, including coronal craniosynostosis, dysmorphic facial features, congenital heart disease (4/5 individuals), and scoliosis (5/5 individuals). Transcription of DHRS3 in whole blood cells from 2 homozygotes for the promoter/5'-untranslated region deletion was 90% to 98% reduced. Cells transfected with a DHRS3-Val171Met construct exhibited reduced retinaldehyde reduction capacity compared with wild-type, yielding reduced retinol and elevated RA; correspondingly, plasma from homozygous patients had significantly reduced retinol and elevated RA (exceeding the normal range), compared with controls and heterozygous relatives.\r\n\r\nThree additional homozygous missense variants of DHRS3 (p.(Val110Ile), p.(Gly115Asp), and p.(Glu244Gln)) were shown to reduce catalytic activity in vitro and/or in vivo but were associated with normal or different phenotypes that did not meet the threshold to assign likely pathogenicity. \nSources: Literature",
"entity_name": "DHRS3",
"entity_type": "gene"
},
{
"created": "2025-09-12T12:59:52.015329+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DMRTA2 as ready",
"entity_name": "DMRTA2",
"entity_type": "gene"
},
{
"created": "2025-09-12T12:59:52.008115+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dmrta2 has been classified as Red List (Low Evidence).",
"entity_name": "DMRTA2",
"entity_type": "gene"
},
{
"created": "2025-09-12T12:59:39.085927+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DMRTA2 was added\ngene: DMRTA2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DMRTA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DMRTA2 were set to 40541527; 26757254\nPhenotypes for gene: DMRTA2 were set to Microcephaly, MONDO:0001149, DMRTA2-related\nReview for gene: DMRTA2 was set to RED\nAdded comment: Single family reported with three affected siblings and bi-allelic LoF variant. Newly published functional data but no further reports. \nSources: Literature",
"entity_name": "DMRTA2",
"entity_type": "gene"
},
{
"created": "2025-09-12T12:55:19.724147+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DMRTA2 as ready",
"entity_name": "DMRTA2",
"entity_type": "gene"
},
{
"created": "2025-09-12T12:55:19.717121+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dmrta2 has been classified as Red List (Low Evidence).",
"entity_name": "DMRTA2",
"entity_type": "gene"
},
{
"created": "2025-09-12T12:54:29.885238+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DMRTA2 was added\ngene: DMRTA2 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: DMRTA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DMRTA2 were set to 40541527; 26757254\nPhenotypes for gene: DMRTA2 were set to Microcephaly, MONDO:0001149, DMRTA2-related\nReview for gene: DMRTA2 was set to RED\nAdded comment: Single family reported with three affected siblings and bi-allelic LoF variant. Newly published functional data but no further reports. \nSources: Literature",
"entity_name": "DMRTA2",
"entity_type": "gene"
},
{
"created": "2025-09-12T11:30:24.383397+10:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.48",
"user_name": "Chris Richmond",
"item_type": "entity",
"text": "gene: TRPC4AP was added\ngene: TRPC4AP was added to Congenital hypothyroidism. Sources: Expert Review,Literature\nMode of inheritance for gene: TRPC4AP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRPC4AP were set to 32428920; 26786105\nPhenotypes for gene: TRPC4AP were set to Thyroid hypoplasia\nReview for gene: TRPC4AP was set to AMBER\nAdded comment: De novo TRPC4AP variant has been identified on WES in a child with thyroid dyshormonogenesis. Next, 179 patients with CHTD sequenced using a panel of target genes identifying four variants in TRPC4AP. During development, Choukair et al. showed that Trpc4ap is expressed in the brain, the thyroid bud, and the kidney of the African clawed frog (Xenopus laevis). This team showed that disabling Trpc4ap in the African clawed frog leads to thyroid hypoplasia during development. It was also shown that TRPC4AP interacted with IKBKG which activates the NF-κB signaling pathway and regulates the genes involved in the growth and survival of thyrocytes. Furthermore, the NF-kB would control the expression of NKX2-1, PAX8, TPO, NIS, and TG.18 The authors conclude that TRPC4AP would be a new candidate gene for TDs.\r\n\r\nInsufficient clinical cases for green. Candidate gene. Propose amber. \nSources: Expert Review, Literature",
"entity_name": "TRPC4AP",
"entity_type": "gene"
},
{
"created": "2025-09-12T11:23:36.371586+10:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.48",
"user_name": "Chris Richmond",
"item_type": "entity",
"text": "gene: JAG1 was added\ngene: JAG1 was added to Congenital hypothyroidism. Sources: Expert Review,Literature\nMode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: JAG1 were set to 26760175; 28653287\nPhenotypes for gene: JAG1 were set to Alagille syndrome 1\nReview for gene: JAG1 was set to GREEN\nAdded comment: Het LoF cause Alagille. Notch pathway involved in thyroid development. Disruption causes hypothyroidism in zebrafish. PMID 28653287\r\n\r\nThyroid function in 21 patients with JAG1 mutations was analyzed and genetic analysis of JAG1 was carried out in an Italian cohort of 100 CH patients. De Filippis et al. reported the predominance of CH in 6/21 patients with Alagille syndrome, two of which had thyroid hypoplasia. PMID 26760175 \nSources: Expert Review, Literature",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2025-09-12T11:17:21.743570+10:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.48",
"user_name": "Chris Richmond",
"item_type": "entity",
"text": "gene: NTN1 was added\ngene: NTN1 was added to Congenital hypothyroidism. Sources: Literature\nMode of inheritance for gene: NTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NTN1 were set to 35774517; 25353184\nPhenotypes for gene: NTN1 were set to Thyroid ectopia with hypothyroidism\nReview for gene: NTN1 was set to AMBER\nAdded comment: Only 1x family (de novo NTN1 deletion) with animal model. Propose Amber.\r\n\r\nNTN1 codes for Netrin 1, which is involved in regulating various developmental processes, such as angiogenesis, the migration of non-neuronal cells, and epithelial morphogenesis. Known to be associated with congenital mirror movts (OMIM 618264)\r\n\r\nA patient with a congenital heart defect and TD (ectopia) has been described with a de novo deletion of NTN1. Embryos of the zebrafish with the ntn1a gene disabled have abnormal morphogenesis of the thyroid, probablydue to abnormal vascularisation not enabling the thyroid progenitor cells \nSources: Literature",
"entity_name": "NTN1",
"entity_type": "gene"
},
{
"created": "2025-09-12T09:21:12.863884+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYRK1A as ready",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2025-09-12T09:21:12.848504+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dyrk1a has been classified as Green List (High Evidence).",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2025-09-12T09:20:33.871336+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ICK as ready",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2025-09-12T09:20:33.864145+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ick has been classified as Amber List (Moderate Evidence).",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2025-09-12T09:20:30.349383+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ICK were changed from Cranioectodermal dysplasia MONDO:0009032 to Cranioectodermal dysplasia 6, MIM# 621337",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2025-09-12T09:20:20.110315+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ICK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cranioectodermal dysplasia 6, MIM# 621337; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2025-09-12T09:18:49.773056+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ICK were set to 19185282; 27069622",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2025-09-12T09:18:22.072769+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ICK were changed from Endocrine-cerebroosteodysplasia, MIM#\t612651 to Endocrine-cerebroosteodysplasia, MIM#\t612651; Cranioectodermal dysplasia 6, MIM# 621337",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2025-09-12T09:17:01.740631+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ICK were changed from Endocrine-cerebroosteodysplasia (MIM#612651) to Endocrine-cerebroosteodysplasia (MIM#612651); Cranioectodermal dysplasia 6, MIM# 621337",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2025-09-12T09:16:14.943392+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ICK: Added comment: 5 children from two families homozygous for the same 2bp deletion. Uncertain if this is a distinct disorder or represents spectrum of abnormalities within the ciliopathies.; Changed rating: GREEN; Changed publications: 40615527; Changed phenotypes: Cranioectodermal dysplasia 6, MIM# 621337; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2025-09-12T09:13:40.139392+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RCC1 were changed from Hereditary peripheral neuropathy, MONDO:0020127, RCC1-related to Infection-induced acute-onset axonal neuropathy, MIM# 621333",
"entity_name": "RCC1",
"entity_type": "gene"
},
{
"created": "2025-09-12T09:13:21.289942+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RCC1: Changed phenotypes: Infection-induced acute-onset axonal neuropathy, MIM# 621333",
"entity_name": "RCC1",
"entity_type": "gene"
},
{
"created": "2025-09-12T09:10:03.965172+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "1.13",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: DYRK1A as Green List (high evidence)",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2025-09-12T09:10:03.956338+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "1.13",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: dyrk1a has been classified as Green List (High Evidence).",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2025-09-12T09:09:48.226071+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "1.13",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: DYRK1A as Green List (high evidence)",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2025-09-12T09:09:48.214168+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "1.13",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: dyrk1a has been classified as Green List (High Evidence).",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2025-09-12T09:09:27.335234+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "1.12",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: DYRK1A was added\ngene: DYRK1A was added to Angelman Rett like syndromes. Sources: Expert list\nMode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DYRK1A were set to PMID: 26677511\nPhenotypes for gene: DYRK1A were set to DYRK1A-related intellectual disability syndrome MONDO:0013578\nReview for gene: DYRK1A was set to GREEN\nAdded comment: Established gene-disease association. \r\nPresentation overlaps Angelman-Rett like syndromes with: intellectual disability, autism spectrum disorder, stereotypic behaviour problems, microcephaly, epilepsy, hypertonia, gait disturbances, feeding problems, short stature, ophthalmologic anomalies, urogenital anomalies, cardiac anomalies, dental anomalies, foot anomalies, and typical facial gestalt. \nSources: Expert list",
"entity_name": "DYRK1A",
"entity_type": "gene"
},
{
"created": "2025-09-12T07:20:40.585192+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.84",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: ICK: Rating: ; Mode of pathogenicity: None; Publications: PMID: 40615527; Phenotypes: Cranioectodermal dysplasia MONDO:0009032; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2025-09-12T07:20:31.442408+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.35",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ICK as Amber List (moderate evidence)",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2025-09-12T07:20:31.429225+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.35",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ick has been classified as Amber List (Moderate Evidence).",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2025-09-12T07:20:18.691134+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.35",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ICK as Amber List (moderate evidence)",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2025-09-12T07:20:18.680300+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.35",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ick has been classified as Amber List (Moderate Evidence).",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2025-09-12T07:20:11.797178+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.100",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ICK as Amber List (moderate evidence)",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2025-09-12T07:20:11.789097+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.100",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ick has been classified as Amber List (Moderate Evidence).",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2025-09-12T07:19:57.814116+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.99",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ICK was added\ngene: ICK was added to Ectodermal Dysplasia. Sources: Literature\nMode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ICK were set to PMID: 40615527, 24797473\nPhenotypes for gene: ICK were set to Cranioectodermal dysplasia MONDO:0009032\nReview for gene: ICK was set to AMBER\nAdded comment: 5 individuals from 2 families (from the same city - Tal Afar) with disproportionately short stature, skeletal abnormalities (short limbs, relative macrocephaly, digit anomalies), ectodermal dysplasia (dental/nail/hair issues), renal issues (hyperechogenic kidneys, dilated renal pelvis, CKD/kidney failure), and liver complications (abnormal enzymes, liver failure). All the patients survived into childhood. Exome sequencing identified the same homozygous frameshift variant (p.(Tyr555Cysfs*48) in ICK (CILK1) gene in the distal part of the non-catalytic domain.\r\n\r\nFunctional data from patient-derived cells and the C. elegans model indicate that the variant reduces cilia number, increases cilia length, and disrupts the localization of IFT components. In contrast, the ciliary localization of CILK1 bearing the variant itself remains unaffected. They rescued the majority of these abnormalities by reintroducing CILK1 into patient-derived cells. \r\n\r\nNote ICK gene is green on multiple panels for Endocrine-cerebro-osteodysplasia syndrome MONDO:0012980 (3 families reported, homozygous missense variants in catalytic domain, supportive functional studies and animal models).\r\n\r\nPMID: 24797473 - Ick deficient mice showed ciliary defects. Authors concluded that ICK is required for normal ciliogenesis. \nSources: Literature",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2025-09-12T07:19:54.783555+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.34",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: ICK: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 40615527, 24797473; Phenotypes: Cranioectodermal dysplasia MONDO:0009032; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2025-09-12T07:17:55.599841+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3074",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: ICK: Rating: ; Mode of pathogenicity: None; Publications: PMID: 40615527; Phenotypes: Cranioectodermal dysplasia MONDO:0009032; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2025-09-11T18:47:36.101055+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTERF3 as ready",
"entity_name": "MTERF3",
"entity_type": "gene"
},
{
"created": "2025-09-11T18:47:36.093303+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mterf3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MTERF3",
"entity_type": "gene"
},
{
"created": "2025-09-11T18:47:30.371704+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MTERF3 as Amber List (moderate evidence)",
"entity_name": "MTERF3",
"entity_type": "gene"
},
{
"created": "2025-09-11T18:47:30.364649+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mterf3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MTERF3",
"entity_type": "gene"
},
{
"created": "2025-09-11T18:47:03.260470+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTERF3 was added\ngene: MTERF3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: MTERF3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTERF3 were set to 40543543\nPhenotypes for gene: MTERF3 were set to Mitochondrial disease (MONDO:0044970), MTERF3-related\nReview for gene: MTERF3 was set to AMBER\nAdded comment: Two individuals reported from unrelated families, presenting with DD/ID, intermittent hypoglycaemia and metabolic acidosis. Genetic testing identified compound heterozygous variants c.635dup p.(Asn212Lysfs*7) and c.1055C > T p.(Pro352Leu) in Patient 1, and a homozygous variant c.943A > Gp.(Met315Val) in Patient 2. Patient's fibroblasts and MTERF3 knockdown cells showed impaired mitochondrial respiration and reduced levels of OXPHOS complexes I, III, and IV. Transcription of MT-ND5, ND6, COII, and COIII was reduced, while other mitochondrial genes were upregulated. Wild-type MTERF3 expression restored these defects, but the variant Pro352Leu from patient failed to rescue mitochondrial dysfunction. \nSources: Literature",
"entity_name": "MTERF3",
"entity_type": "gene"
},
{
"created": "2025-09-11T18:45:33.326111+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTERF3 as ready",
"entity_name": "MTERF3",
"entity_type": "gene"
},
{
"created": "2025-09-11T18:45:33.319154+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mterf3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MTERF3",
"entity_type": "gene"
},
{
"created": "2025-09-11T18:45:23.326230+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MTERF3 as Amber List (moderate evidence)",
"entity_name": "MTERF3",
"entity_type": "gene"
},
{
"created": "2025-09-11T18:45:23.319221+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mterf3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MTERF3",
"entity_type": "gene"
},
{
"created": "2025-09-11T18:45:07.807498+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTERF3 was added\ngene: MTERF3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MTERF3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTERF3 were set to 40543543\nPhenotypes for gene: MTERF3 were set to Mitochondrial disease (MONDO:0044970), MTERF3-related\nReview for gene: MTERF3 was set to AMBER\nAdded comment: Two individuals reported from unrelated families, presenting with DD/ID, intermittent hypoglycaemia and metabolic acidosis. Genetic testing identified compound heterozygous variants c.635dup p.(Asn212Lysfs*7) and c.1055C > T p.(Pro352Leu) in Patient 1, and a homozygous variant c.943A > Gp.(Met315Val) in Patient 2. Patient's fibroblasts and MTERF3 knockdown cells showed impaired mitochondrial respiration and reduced levels of OXPHOS complexes I, III, and IV. Transcription of MT-ND5, ND6, COII, and COIII was reduced, while other mitochondrial genes were upregulated. Wild-type MTERF3 expression restored these defects, but the variant Pro352Leu from patient failed to rescue mitochondrial dysfunction. \nSources: Literature",
"entity_name": "MTERF3",
"entity_type": "gene"
},
{
"created": "2025-09-11T18:44:54.870422+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTERF3 as ready",
"entity_name": "MTERF3",
"entity_type": "gene"
},
{
"created": "2025-09-11T18:44:54.852257+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mterf3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MTERF3",
"entity_type": "gene"
},
{
"created": "2025-09-11T18:43:37.302418+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MTERF3 as Amber List (moderate evidence)",
"entity_name": "MTERF3",
"entity_type": "gene"
},
{
"created": "2025-09-11T18:43:37.295233+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mterf3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MTERF3",
"entity_type": "gene"
},
{
"created": "2025-09-11T18:43:03.898461+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTERF3 was added\ngene: MTERF3 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: MTERF3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTERF3 were set to 40543543\nPhenotypes for gene: MTERF3 were set to Mitochondrial disease (MONDO:0044970), MTERF3-related\nReview for gene: MTERF3 was set to AMBER\nAdded comment: Two individuals reported from unrelated families, presenting with DD/ID, intermittent hypoglycaemia and metabolic acidosis. Genetic testing identified compound heterozygous variants c.635dup p.(Asn212Lysfs*7) and c.1055C > T p.(Pro352Leu) in Patient 1, and a homozygous variant c.943A > Gp.(Met315Val) in Patient 2. Patient's fibroblasts and MTERF3 knockdown cells showed impaired mitochondrial respiration and reduced levels of OXPHOS complexes I, III, and IV. Transcription of MT-ND5, ND6, COII, and COIII was reduced, while other mitochondrial genes were upregulated. Wild-type MTERF3 expression restored these defects, but the variant Pro352Leu from patient failed to rescue mitochondrial dysfunction. \nSources: Literature",
"entity_name": "MTERF3",
"entity_type": "gene"
},
{
"created": "2025-09-11T18:36:37.473332+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ15 as ready",
"entity_name": "KCNJ15",
"entity_type": "gene"
},
{
"created": "2025-09-11T18:36:37.460050+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj15 has been classified as Red List (Low Evidence).",
"entity_name": "KCNJ15",
"entity_type": "gene"
},
{
"created": "2025-09-11T18:36:28.124799+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNJ15 was added\ngene: KCNJ15 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KCNJ15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNJ15 were set to 40566643\nPhenotypes for gene: KCNJ15 were set to Parkinson disease, MONDO:0005180, KCNJ15-related\nReview for gene: KCNJ15 was set to RED\nAdded comment: Single multiplex family reported with a missense variant and functional data. \nSources: Literature",
"entity_name": "KCNJ15",
"entity_type": "gene"
},
{
"created": "2025-09-11T18:34:35.184981+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ15 as ready",
"entity_name": "KCNJ15",
"entity_type": "gene"
},
{
"created": "2025-09-11T18:34:35.177839+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj15 has been classified as Red List (Low Evidence).",
"entity_name": "KCNJ15",
"entity_type": "gene"
},
{
"created": "2025-09-11T18:34:28.881951+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "2.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNJ15 was added\ngene: KCNJ15 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: KCNJ15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNJ15 were set to 40566643\nPhenotypes for gene: KCNJ15 were set to Parkinson disease, MONDO:0005180, KCNJ15-related\nReview for gene: KCNJ15 was set to RED\nAdded comment: Single multiplex family reported with a missense variant and functional data. \nSources: Literature",
"entity_name": "KCNJ15",
"entity_type": "gene"
},
{
"created": "2025-09-11T18:31:26.940690+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TFCP2L1 as ready",
"entity_name": "TFCP2L1",
"entity_type": "gene"
},
{
"created": "2025-09-11T18:31:26.933314+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tfcp2l1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TFCP2L1",
"entity_type": "gene"
},
{
"created": "2025-09-11T18:31:14.491092+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TFCP2L1 as Amber List (moderate evidence)",
"entity_name": "TFCP2L1",
"entity_type": "gene"
},
{
"created": "2025-09-11T18:31:14.483836+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tfcp2l1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TFCP2L1",
"entity_type": "gene"
},
{
"created": "2025-09-11T18:30:50.862011+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TFCP2L1 was added\ngene: TFCP2L1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TFCP2L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TFCP2L1 were set to 40569305; 33097957\nPhenotypes for gene: TFCP2L1 were set to CAKUT, MONDO:0019719, TFGP2L1-related\nReview for gene: TFCP2L1 was set to AMBER\nAdded comment: PMID 40569305: consanguineous preterm male infant with a clinical picture of advanced kidney dysfunction and severe renal salt-wasting, highly suggestive of prenatal onset Bartter syndrome. Patient's follow-up was characterized by severe polyuria; episodes of hyponatremia, hypokalemia, and hypochloremia; and metabolic alkalosis and hyperuricemia. Homozygous variant in the TFCP2L1 gene identified. TFCP2L1 is a transcription factor required for normal kidney development, that regulates acid-base and salt-water homeostasis.\r\n\r\nPMID 33097957: infant who developed CKD by the age of 2 months and had episodes of severe hypochloraemic, hyponatraemic and hypokalaemic alkalosis, seizures, developmental delay and hypotonia together with cataracts. Homozygous LoF variant.\r\n\r\nTFCP2L1 is localized throughout kidney development particularly in the distal nephron. TFCP2L1 induced the growth and development of renal tubules from rat mesenchymal cells. Conversely, the deletion of TFCP2L1 in mice was previously shown to lead to reduced expression of renal cell markers including ion transporters and cell identity proteins expressed in different segments of the distal nephron. TFCP2L1 localized to the nucleus in HEK293T cells only upon coexpression with its paralog upstream-binding protein 1 (UBP1). A TFCP2L1 mutant complementary DNA (cDNA) clone that represented the patient's mutation failed to form homo- and heterodimers with UBP1, an essential step for its transcriptional activity. \nSources: Literature",
"entity_name": "TFCP2L1",
"entity_type": "gene"
}
]
}