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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=150",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=148",
"results": [
{
"created": "2025-10-15T16:40:40.874012+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UGGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IICC, MIM# 621381; Mode of inheritance: None",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-10-15T16:40:24.373283+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UGGT1 were changed from Congenital disorder of glycosylation - MONDO:0015286; UGGT1-CDG to Congenital disorder of glycosylation, type IICC, MIM# 621381",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-10-15T16:40:08.859170+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UGGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IICC, MIM# 621381; Mode of inheritance: None",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-10-15T16:39:51.742773+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UGGT1 were changed from Congenital disorder of glycosylation - MONDO:0015286; UGGT1-CDG to Congenital disorder of glycosylation, type IICC, MIM# 621381",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-10-15T16:39:30.105500+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UGGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IICC, MIM# 621381; Mode of inheritance: None",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-10-15T16:39:17.590991+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UGGT1 were changed from Congenital disorder of glycosylation - MONDO:0015286; UGGT1-CDG to Congenital disorder of glycosylation, type IICC, MIM# 621381",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-10-15T16:38:52.446060+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UGGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IICC, MIM# 621381; Mode of inheritance: None",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-10-15T16:38:39.822192+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UGGT1 were changed from Congenital disorder of glycosylation - MONDO:0015286; UGGT1-CDG to Congenital disorder of glycosylation, type IICC, MIM# 621381",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-10-15T16:38:04.604774+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UGGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IICC, MIM# 621381; Mode of inheritance: None",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-10-15T16:37:52.985580+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UGGT1 as ready",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-10-15T16:37:52.975305+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uggt1 has been classified as Green List (High Evidence).",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-10-15T16:37:39.385918+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UGGT1 were changed from Congenital disorder of glycosylation - MONDO:0015286; UGGT1-CDG to Congenital disorder of glycosylation, type IICC, MIM# 621381",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-10-15T16:37:07.981121+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UGGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IICC, MIM# 621381; Mode of inheritance: None",
"entity_name": "UGGT1",
"entity_type": "gene"
},
{
"created": "2025-10-15T14:52:01.333321+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.358",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: NAA20: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37191084; Phenotypes: Intellectual developmental disorder, autosomal recessive 73, MIM# 619717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "NAA20",
"entity_type": "gene"
},
{
"created": "2025-10-14T14:17:03.825946+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.38",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: INCENP was added\ngene: INCENP was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: INCENP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INCENP were set to 41005306\nPhenotypes for gene: INCENP were set to Oocyte/zygote/embryo maturation arrest MONDO:0014769, INCENP-related\nReview for gene: INCENP was set to AMBER\nAdded comment: 3 unrelated women presenting with abnormal oocyte morphology and/or low fertilisation rate from a large cohort of 3627 individuals. WES identified biallelic missense variants:\r\nR267Q (gnomAD v4: 1717 hets, 12 homs), R280W (5 hets, 0 homs), P444L (207 hets, 0 homs), R693W (686 hets, 1 hom), K816T (110 hets, 1 hom), K890E (3 hets, 0 homs).\r\n\r\nsiRNA-mediated knock-down of INCENP in mouse oocytes reduced polar-body extrusion rates, demonstrating that loss of function of the protein affects oocyte maturation. \nSources: Literature",
"entity_name": "INCENP",
"entity_type": "gene"
},
{
"created": "2025-10-14T14:16:39.814047+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3381",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: INCENP was added\ngene: INCENP was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: INCENP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INCENP were set to 41005306\nPhenotypes for gene: INCENP were set to Oocyte/zygote/embryo maturation arrest MONDO:0014769, INCENP-related\nReview for gene: INCENP was set to AMBER\nAdded comment: 3 unrelated women presenting with abnormal oocyte morphology and/or low fertilisation rate from a large cohort of 3627 individuals. WES identified biallelic missense variants:\r\nR267Q (gnomAD v4: 1717 hets, 12 homs), R280W (5 hets, 0 homs), P444L (207 hets, 0 homs), R693W (686 hets, 1 hom), K816T (110 hets, 1 hom), K890E (3 hets, 0 homs).\r\n\r\nsiRNA-mediated knock-down of INCENP in mouse oocytes reduced polar-body extrusion rates, demonstrating that loss of function of the protein affects oocyte maturation. \nSources: Literature",
"entity_name": "INCENP",
"entity_type": "gene"
},
{
"created": "2025-10-14T11:27:39.331157+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3381",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: ANKRD24: Rating: RED; Mode of pathogenicity: None; Publications: 40989574; Phenotypes: Sensorineural hearing loss disorder MONDO:0020678, ANKRD24-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ANKRD24",
"entity_type": "gene"
},
{
"created": "2025-10-14T11:16:56.115230+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.361",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: SWSAP1 was added\ngene: SWSAP1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: SWSAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SWSAP1 were set to 40991243\nPhenotypes for gene: SWSAP1 were set to Primary ovarian insufficiency, MONDO:0005387, SWSAP1-related\nReview for gene: SWSAP1 was set to RED\nAdded comment: Cohort with severe isolated premature ovarian insufficiency. 1x individual homozygous for a frameshift SWSAP1 variant, c.353del, p.(Gly118AlafsTer2), absent from gnomAD v4. \r\n\r\nFunctional: western-blot indicates reduced stability of the truncated protein; the truncated SWSAP1 variant fails to complement the IH-HR (interhomolog homologous recombination) defect of Swsap1−/− cells (undetected IH-HR activity). \nSources: Literature",
"entity_name": "SWSAP1",
"entity_type": "gene"
},
{
"created": "2025-10-14T11:16:32.114065+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3381",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: SWSAP1 was added\ngene: SWSAP1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SWSAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SWSAP1 were set to 40991243\nPhenotypes for gene: SWSAP1 were set to Primary ovarian insufficiency, MONDO:0005387, SWSAP1-related\nReview for gene: SWSAP1 was set to RED\nAdded comment: Cohort with severe isolated premature ovarian insufficiency. 1x individual homozygous for a frameshift SWSAP1 variant, c.353del, p.(Gly118AlafsTer2), absent from gnomAD v4. \r\n\r\nFunctional: western-blot indicates reduced stability of the truncated protein; the truncated SWSAP1 variant fails to complement the IH-HR (interhomolog homologous recombination) defect of Swsap1−/− cells (undetected IH-HR activity). \nSources: Literature",
"entity_name": "SWSAP1",
"entity_type": "gene"
},
{
"created": "2025-10-14T11:10:55.598747+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.38",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: FSIP2 was added\ngene: FSIP2 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: FSIP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FSIP2 were set to 30137358; 40968718; 36632462; 33631238\nPhenotypes for gene: FSIP2 were set to Spermatogenic failure 34, MIM#618153\nReview for gene: FSIP2 was set to GREEN\nAdded comment: Multiple unrelated cases with multiple morphological abnormalities of the sperm flagella (MMAF) carrying biallelic variants. \nSources: Literature",
"entity_name": "FSIP2",
"entity_type": "gene"
},
{
"created": "2025-10-14T11:09:53.461166+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3381",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: FSIP2 was added\ngene: FSIP2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FSIP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FSIP2 were set to 30137358; 40968718; 36632462; 33631238\nPhenotypes for gene: FSIP2 were set to Spermatogenic failure 34, MIM#618153\nReview for gene: FSIP2 was set to GREEN\nAdded comment: Multiple unrelated cases with multiple morphological abnormalities of the sperm flagella (MMAF) carrying biallelic variants. \nSources: Literature",
"entity_name": "FSIP2",
"entity_type": "gene"
},
{
"created": "2025-10-14T11:05:41.993242+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.130",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: AMOT was added\ngene: AMOT was added to Hydrocephalus_Ventriculomegaly. Sources: Literature\nMode of inheritance for gene: AMOT was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: AMOT were set to 40892511\nPhenotypes for gene: AMOT were set to Congenital hydrocephalus MONDO:0016349, AMOT-related\nReview for gene: AMOT was set to AMBER\nAdded comment: 1x family with isolated X-linked congenital hydrocephalus – clinical presentation considered late, identified in the third trimester. Variant segregated with disease in 6x affected hemizygous males (4x live-born and 2x terminated male fetuses). Carrier females are apparently normal (no brain MRI was performed).\r\n\r\nExome sequencing identified start loss variant, c.2T>C p.(Met1Thr). Functional analyses identify that the variant results in a protein lacking 91 amino acids from the N-terminus and leads to abnormally increased AMOT protein levels (increased stability due to loss of degradation signals), which disrupts epithelial and endothelial barrier integrity. \nSources: Literature",
"entity_name": "AMOT",
"entity_type": "gene"
},
{
"created": "2025-10-14T11:05:26.181457+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.438",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: AMOT was added\ngene: AMOT was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: AMOT was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: AMOT were set to 40892511\nPhenotypes for gene: AMOT were set to Congenital hydrocephalus MONDO:0016349, AMOT-related\nReview for gene: AMOT was set to AMBER\nAdded comment: 1x family with isolated X-linked congenital hydrocephalus – clinical presentation considered late, identified in the third trimester. Variant segregated with disease in 6x affected hemizygous males (4x live-born and 2x terminated male fetuses). Carrier females are apparently normal (no brain MRI was performed).\r\n\r\nExome sequencing identified start loss variant, c.2T>C p.(Met1Thr). Functional analyses identify that the variant results in a protein lacking 91 amino acids from the N-terminus and leads to abnormally increased AMOT protein levels (increased stability due to loss of degradation signals), which disrupts epithelial and endothelial barrier integrity. \nSources: Literature",
"entity_name": "AMOT",
"entity_type": "gene"
},
{
"created": "2025-10-14T11:04:58.651534+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3381",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: AMOT was added\ngene: AMOT was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: AMOT was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: AMOT were set to 40892511\nPhenotypes for gene: AMOT were set to Congenital hydrocephalus MONDO:0016349, AMOT-related\nReview for gene: AMOT was set to AMBER\nAdded comment: 1x family with isolated X-linked congenital hydrocephalus – clinical presentation considered late, identified in the third trimester. Variant segregated with disease in 6x affected hemizygous males (4x live-born and 2x terminated male fetuses). Carrier females are apparently normal (no brain MRI was performed).\r\n\r\nExome sequencing identified start loss variant, c.2T>C p.(Met1Thr). Functional analyses identify that the variant results in a protein lacking 91 amino acids from the N-terminus and leads to abnormally increased AMOT protein levels (increased stability due to loss of degradation signals), which disrupts epithelial and endothelial barrier integrity. \nSources: Literature",
"entity_name": "AMOT",
"entity_type": "gene"
},
{
"created": "2025-10-14T10:47:12.259872+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3381",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: HECTD4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28191890, 31981491, 31785789; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HECTD4",
"entity_type": "gene"
},
{
"created": "2025-10-14T09:42:54.546778+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.246",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: MDGA2 was added\ngene: MDGA2 was added to Genetic Epilepsy. Sources: Other\nMode of inheritance for gene: MDGA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MDGA2 were set to https://doi.org/10.1101/2025.08.28.25330873; 40168357; 27608760\nPhenotypes for gene: MDGA2 were set to MDGA2-related neurodevelopmental disorder MONDO:0700092\nReview for gene: MDGA2 was set to GREEN\nAdded comment: Affected individuals present with a broad neurodevelopmental impairment-like phenotype.\r\n\r\nPre-print - https://doi.org/10.1101/2025.08.28.25330873\r\nIndividuals with developmental and epileptic encephalopathy (DEE)\r\n8 individuals from 6 consanguineous families exhibiting infantile hypotonia, severe neurodevelopmental delay, intractable seizures, progressive brain atrophy, and consistent dysmorphic features.\r\n7 different biallelic LoF variants were identified\r\np.Tyr913Ter, p.Arg404Ter, p.Leu920Ter, c.421-1G>A, p.Lys391SerfsTer7 and c.421-96_595+99del - all variants are rare or absent in gnomAD v4.1\r\nIn vitro functional studies of three nonsense variants in mammalian expression systems and hippocampal cultured neurons that resulted in impaired MDGA2 membrane trafficking are supportive of a loss-of-function mechanism.\r\n\r\nPMID: 40168357, 27608760\r\nA knockout mouse model showed that MGAD2-deficient mice presented with autism-like behaviours (social deficits, repetitive behaviour, and cognitive impairment).\r\nThe mice also showed abnormalities in excitatory synapses. \nSources: Other",
"entity_name": "MDGA2",
"entity_type": "gene"
},
{
"created": "2025-10-14T09:42:48.651523+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3381",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Affected individuals present with a broad neurodevelopmental impairment phenotype. \r\n\r\nPre-print - https://doi.org/10.1101/2025.08.28.25330873\r\nIndividuals with developmental and epileptic encephalopathy (DEE)\r\n8 individuals from 6 consanguineous families exhibiting infantile hypotonia, severe neurodevelopmental delay, intractable seizures, progressive brain atrophy, and consistent dysmorphic features.\r\n7 different biallelic LoF variants were identified \r\np.Tyr913Ter, p.Arg404Ter, p.Leu920Ter, c.421-1G>A, p.Lys391SerfsTer7 and c.421-96_595+99del - all variants are rare or absent in gnomAD v4.1 \r\nIn vitro functional studies of three nonsense variants in mammalian expression systems and hippocampal cultured neurons that resulted in impaired MDGA2 membrane trafficking are supportive of a loss-of-function mechanism. \r\n\r\nPMID: 40168357, 27608760\r\nA knockout mouse model showed that MGAD2-deficient mice presented with autism-like behaviours (social deficits, repetitive behaviour, and cognitive impairment).\r\nThe mice also showed abnormalities in excitatory synapses. \nSources: Other; to: Affected individuals present with a broad neurodevelopmental impairment-like phenotype. \r\n\r\nPre-print - https://doi.org/10.1101/2025.08.28.25330873\r\nIndividuals with developmental and epileptic encephalopathy (DEE)\r\n8 individuals from 6 consanguineous families exhibiting infantile hypotonia, severe neurodevelopmental delay, intractable seizures, progressive brain atrophy, and consistent dysmorphic features.\r\n7 different biallelic LoF variants were identified \r\np.Tyr913Ter, p.Arg404Ter, p.Leu920Ter, c.421-1G>A, p.Lys391SerfsTer7 and c.421-96_595+99del - all variants are rare or absent in gnomAD v4.1 \r\nIn vitro functional studies of three nonsense variants in mammalian expression systems and hippocampal cultured neurons that resulted in impaired MDGA2 membrane trafficking are supportive of a loss-of-function mechanism. \r\n\r\nPMID: 40168357, 27608760\r\nA knockout mouse model showed that MGAD2-deficient mice presented with autism-like behaviours (social deficits, repetitive behaviour, and cognitive impairment).\r\nThe mice also showed abnormalities in excitatory synapses. \r\nSources: Other",
"entity_name": "MDGA2",
"entity_type": "gene"
},
{
"created": "2025-10-14T09:40:32.495217+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3381",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: MDGA2 was added\ngene: MDGA2 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: MDGA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MDGA2 were set to https://doi.org/10.1101/2025.08.28.25330873; 40168357; 27608760\nPhenotypes for gene: MDGA2 were set to MDGA2-related neurodevelopmental disorder MONDO:0700092\nReview for gene: MDGA2 was set to GREEN\nAdded comment: Affected individuals present with a broad neurodevelopmental impairment phenotype. \r\n\r\nPre-print - https://doi.org/10.1101/2025.08.28.25330873\r\nIndividuals with developmental and epileptic encephalopathy (DEE)\r\n8 individuals from 6 consanguineous families exhibiting infantile hypotonia, severe neurodevelopmental delay, intractable seizures, progressive brain atrophy, and consistent dysmorphic features.\r\n7 different biallelic LoF variants were identified \r\np.Tyr913Ter, p.Arg404Ter, p.Leu920Ter, c.421-1G>A, p.Lys391SerfsTer7 and c.421-96_595+99del - all variants are rare or absent in gnomAD v4.1 \r\nIn vitro functional studies of three nonsense variants in mammalian expression systems and hippocampal cultured neurons that resulted in impaired MDGA2 membrane trafficking are supportive of a loss-of-function mechanism. \r\n\r\nPMID: 40168357, 27608760\r\nA knockout mouse model showed that MGAD2-deficient mice presented with autism-like behaviours (social deficits, repetitive behaviour, and cognitive impairment).\r\nThe mice also showed abnormalities in excitatory synapses. \nSources: Other",
"entity_name": "MDGA2",
"entity_type": "gene"
},
{
"created": "2025-10-13T16:35:22.589469+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3381",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: CACNB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 41023410; Phenotypes: Congenital muscular dystrophy MONDO:0020121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CACNB1",
"entity_type": "gene"
},
{
"created": "2025-10-13T14:38:26.599321+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.438",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: ATP5O.",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2025-10-13T14:38:14.855225+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.358",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: ATP5O.",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2025-10-13T14:38:01.992199+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1083",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: ATP5O.",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2025-10-13T14:37:43.786693+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3381",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: ATP5O.",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2025-10-13T09:56:15.580993+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DDOST as ready",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2025-10-13T09:56:15.526863+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ddost has been classified as Amber List (Moderate Evidence).",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2025-10-13T09:56:11.106340+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DDOST as Amber List (moderate evidence)",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2025-10-13T09:56:11.099599+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ddost has been classified as Amber List (Moderate Evidence).",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2025-10-13T09:55:23.821426+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DDOST was added\ngene: DDOST was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature\nMode of inheritance for gene: DDOST was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DDOST were set to 41005306\nPhenotypes for gene: DDOST were set to inherited oocyte maturation defect MONDO:0014769\nReview for gene: DDOST was set to AMBER\nAdded comment: 3 cases with embryonic arrest/abnormal fertilisation with biallelic DDOST variants (1 homozygous & 2 chets, phase not confirmed). No mention of any other phenotypes or assessment of transferrin glycolysation status in cases. Unsure if cases have DDOST-CDG. DDOST knock‑down in mouse oocytes reduces polar‑body extrusion & mutant DDOST proteins displayed altered subcellular localization in HeLa cells. \nSources: Literature",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2025-10-13T09:54:31.973807+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.358",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: DDOST were changed from Congenital disorder of glycosylation, type Ir, MIM# 614507 to DDOST-congenital disorder of glycosylation MONDO:0013789",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2025-10-13T09:53:26.986978+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.357",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: DDOST were set to 22305527",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2025-10-13T09:52:56.773332+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.356",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DDOST as Green List (high evidence)",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2025-10-13T09:52:56.762145+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.356",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ddost has been classified as Green List (High Evidence).",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2025-10-13T09:52:31.019831+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.355",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DDOST as Green List (high evidence)",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2025-10-13T09:52:31.009919+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.355",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ddost has been classified as Green List (High Evidence).",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2025-10-13T09:51:10.749961+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.354",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: DDOST: Changed rating: GREEN",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2025-10-13T09:50:48.555024+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.354",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: DDOST: Rating: ; Mode of pathogenicity: None; Publications: 22305527, 34462534, 36214423, 37848450, 33413482, 36631682; Phenotypes: DDOST-congenital disorder of glycosylation MONDO:0013789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2025-10-13T09:49:03.264470+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.76",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: DDOST were changed from Congenital disorder of glycosylation, type Ir, MIM# 614507 to DDOST-congenital disorder of glycosylation MONDO:0013789",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2025-10-13T09:47:47.568425+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.75",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DDOST as Green List (high evidence)",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2025-10-13T09:47:47.561681+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.75",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ddost has been classified as Green List (High Evidence).",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2025-10-13T09:47:16.757066+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.74",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: DDOST: Rating: GREEN; Mode of pathogenicity: None; Publications: 22305527, 34462534, 36214423, 37848450, 33413482, 36631682; Phenotypes: DDOST-congenital disorder of glycosylation MONDO:0013789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2025-10-13T09:45:20.834942+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3381",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: DDOST were changed from Congenital disorder of glycosylation, type Ir, MIM# 614507 to DDOST-congenital disorder of glycosylation MONDO:0013789; inherited oocyte maturation defect MONDO:0014769",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2025-10-13T09:45:03.932717+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3380",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: DDOST were set to 22305527",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2025-10-13T09:44:11.509518+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3379",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DDOST as Green List (high evidence)",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2025-10-13T09:44:11.502316+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3379",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ddost has been classified as Green List (High Evidence).",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2025-10-13T09:43:52.800921+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3378",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: DDOST: Rating: GREEN; Mode of pathogenicity: None; Publications: 22305527, 34462534, 36214423, 37848450, 33413482, 36631682, 41005306; Phenotypes: DDOST-congenital disorder of glycosylation MONDO:0013789, inherited oocyte maturation defect MONDO:0014769; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDOST",
"entity_type": "gene"
},
{
"created": "2025-10-13T09:29:51.367751+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.246",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RNU4-2 as Green List (high evidence)",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2025-10-13T09:29:51.356475+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.246",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rnu4-2 has been classified as Green List (High Evidence).",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2025-10-13T09:29:27.963378+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.245",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: RNU4-2 was added\ngene: RNU4-2 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: RNU4-2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RNU4-2 were set to 38991538\nPhenotypes for gene: RNU4-2 were set to Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language, MIM# 620851\nReview for gene: RNU4-2 was set to GREEN\nAdded comment: Over 100 individuals with ID found to have de novo variants in this gene. Please note difficult to identify on ES. Epilepsy seen in 50% cases. \nSources: Expert list",
"entity_name": "RNU4-2",
"entity_type": "gene"
},
{
"created": "2025-10-13T09:14:32.825432+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3378",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: MIA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 40948380, 40119123; Phenotypes: odontochondrodysplasia MONDO:0031169; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MIA3",
"entity_type": "gene"
},
{
"created": "2025-10-13T08:34:07.517606+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.469",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RYR3 as ready",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2025-10-13T08:34:07.510449+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.469",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ryr3 has been classified as Green List (High Evidence).",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2025-10-13T08:33:40.591931+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.469",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RYR3 as Green List (high evidence)",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2025-10-13T08:33:40.581384+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.469",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ryr3 has been classified as Green List (High Evidence).",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2025-10-13T08:33:10.090070+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.468",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RYR3 was added\ngene: RYR3 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: RYR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RYR3 were set to 39762984; 41022857\nPhenotypes for gene: RYR3 were set to congenital heart disease MONDO:0005453\nReview for gene: RYR3 was set to GREEN\nAdded comment: Congenital heart disease - at least 4 rare de novo missense and a supporting knockout zebrafish model\r\nPMID: 39762984 - a proband with CHD phenotype (Duodenal atresia, Ventricular septal defect, Secundum atrial septal defect, Tricuspid valve prolapse, Vesicoureteral reflux) with a de novo stopgain variant (c.12295G>T). Zebrafish knockout shows enlarged atria and ventricle, matching patient phenotype\r\nPMID: 41022857 - 4 de novo missense (L110I, S2130L, Y2743C, F2957L - Y2743C has a homozygote & AF in gnomAD higher than expected for AD disease - AF=0.0002760) identified in a CHD cohort \nSources: Literature",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2025-10-13T08:32:34.649221+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3378",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RYR3 as Green List (high evidence)",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2025-10-13T08:32:34.642197+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3378",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ryr3 has been classified as Green List (High Evidence).",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2025-10-13T08:30:59.051731+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.244",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: RYR3 were set to 25262651",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2025-10-13T08:30:17.490015+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.243",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RYR3 as Amber List (moderate evidence)",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2025-10-13T08:30:17.482605+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.243",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ryr3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2025-10-13T08:29:44.007801+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.242",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: RYR3: Added comment: Epilepsy - mild to severe phenotypes reported with both de novo heterozygous (3) and biallelic (7). However, no supporting functional evidence for a gene-disease association\r\nPMID: 39840699\r\nFamilies: 7 families (7 unrelated)\r\nPatients: 7 patients\r\nPhenotype: partial seizures, febrile seizures, normal brain MRI\r\nMode of inheritance: Monoallelic and biallelic (1 de novo heterozygous; 6 compound heterozygous inherited from asymptomatic parents)\r\nVariants: c.12947A>G (missense); c.2747A>C (missense); c.12514G>A (missense); c.3697G>A (missense); c.9994A>G (missense); c.4936G>A (missense); c.10859G>T (missense); c.9917A>G (missense); c.12463G>A (missense); c.11386G>C (missense); c.13690G>C (missense); c.11798C>G (missense); c.13363G>A (missense)\r\nPopulation Frequency: gnomAD: 0–0.00022 (overall); up to 0.0031 in East Asian controls\r\nFunctional: protein modeling (I‑TASSER, PyMOL) and stability predictions (I‑Mutant)\r\nPMID: 39220738, 25262651, 29667327\r\nFamilies: 4 families (4 unrelated)\r\nPatients: 4 patients\r\nPhenotype: infantile spasm syndrome, developmental regression, multifocal EEG discharges, intractable seizures\r\nMode of inheritance: Monoallelic (de novo heterozygous; also 1 AR compound heterozygote reported); Changed publications: 25262651, 39840699, 39220738, 29667327; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2025-10-13T08:28:25.146518+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3377",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: RYR3 were changed from Congenital myopathy 20, MIM# 620310; developmental and epileptic encephalopathy (MONDO:0100062) to congenital heart disease MONDO:0005453; Congenital myopathy 20, MIM# 620310; developmental and epileptic encephalopathy (MONDO:0100062)",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2025-10-13T08:28:07.616119+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3376",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: RYR3 were set to 29498452; 32451403; 31230720; 25262651",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2025-10-13T08:27:21.022732+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3375",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: RYR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 39762984, 41022857, 39840699, 39220738, 25262651, 29667327; Phenotypes: congenital heart disease MONDO:0005453, developmental and epileptic encephalopathy MONDO:0100062; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RYR3",
"entity_type": "gene"
},
{
"created": "2025-10-12T20:42:08.002905+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.467",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ZDHHC18 as Amber List (moderate evidence)",
"entity_name": "ZDHHC18",
"entity_type": "gene"
},
{
"created": "2025-10-12T20:42:07.992134+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.467",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: zdhhc18 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZDHHC18",
"entity_type": "gene"
},
{
"created": "2025-10-12T20:41:47.297415+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.466",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ZDHHC18 was added\ngene: ZDHHC18 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: ZDHHC18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZDHHC18 were set to 41022857\nPhenotypes for gene: ZDHHC18 were set to congenital heart disease MONDO:0005453\nReview for gene: ZDHHC18 was set to AMBER\nAdded comment: ZDHHC18 appears among significant CHD genes in the de novo enrichment analysis. Two de novo missense variants (W290L, G297A) were identified in 2 probands via trio analysis in a CHD cohort. No functional assays conducted. \nSources: Literature",
"entity_name": "ZDHHC18",
"entity_type": "gene"
},
{
"created": "2025-10-12T20:39:23.721102+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3375",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ZDHHC18 as Amber List (moderate evidence)",
"entity_name": "ZDHHC18",
"entity_type": "gene"
},
{
"created": "2025-10-12T20:39:23.713233+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3375",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: zdhhc18 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZDHHC18",
"entity_type": "gene"
},
{
"created": "2025-10-12T20:38:54.543440+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3374",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: ZDHHC18 appears among significant CHD genes in the de novo enrichment analysis. Two de novo missense variants (W290L, G297A) were identified in 2 probands via trio analysis in a CHD cohort. \nSources: Literature; to: ZDHHC18 appears among significant CHD genes in the de novo enrichment analysis. Two de novo missense variants (W290L, G297A) were identified in 2 probands via trio analysis in a CHD cohort. No functional assays conducted.\r\nSources: Literature",
"entity_name": "ZDHHC18",
"entity_type": "gene"
},
{
"created": "2025-10-12T20:28:49.533032+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3374",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ZDHHC18 was added\ngene: ZDHHC18 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ZDHHC18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZDHHC18 were set to 41022857\nPhenotypes for gene: ZDHHC18 were set to congenital heart disease MONDO:0005453\nReview for gene: ZDHHC18 was set to AMBER\nAdded comment: ZDHHC18 appears among significant CHD genes in the de novo enrichment analysis. Two de novo missense variants (W290L, G297A) were identified in 2 probands via trio analysis in a CHD cohort. \nSources: Literature",
"entity_name": "ZDHHC18",
"entity_type": "gene"
},
{
"created": "2025-10-12T17:20:46.584855+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TM2D3 were changed from Neurodevelopmental disorder, MONDO:0700092, TM2D3-related to Neurocardiorenal malformation syndrome, MIM# 621379",
"entity_name": "TM2D3",
"entity_type": "gene"
},
{
"created": "2025-10-12T17:20:15.514774+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TM2D3: Changed phenotypes: Neurocardiorenal malformation syndrome, MIM# 621379",
"entity_name": "TM2D3",
"entity_type": "gene"
},
{
"created": "2025-10-12T17:20:02.015124+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TM2D3 were changed from Neurodevelopmental disorder, MONDO:0700092, TM2D3-related to Neurocardiorenal malformation syndrome, MIM# 621379",
"entity_name": "TM2D3",
"entity_type": "gene"
},
{
"created": "2025-10-12T17:19:37.165482+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TM2D3: Changed phenotypes: Neurocardiorenal malformation syndrome, MIM# 621379",
"entity_name": "TM2D3",
"entity_type": "gene"
},
{
"created": "2025-10-12T17:19:20.303468+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TM2D3 were changed from Neurodevelopmental disorder, MONDO:0700092, TM2D3-related to Neurocardiorenal malformation syndrome, MIM# 621379",
"entity_name": "TM2D3",
"entity_type": "gene"
},
{
"created": "2025-10-12T17:19:00.827529+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TM2D3: Changed phenotypes: Neurocardiorenal malformation syndrome, MIM# 621379",
"entity_name": "TM2D3",
"entity_type": "gene"
},
{
"created": "2025-10-12T17:11:04.225037+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATXN7L3 were changed from Neurodevelopmental disorder, MONDO_0100500, ATXN7L3-related to Harel-Tora neurodevelopmental syndrome, MIM# 621377",
"entity_name": "ATXN7L3",
"entity_type": "gene"
},
{
"created": "2025-10-12T17:10:39.229816+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATXN7L3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Harel-Tora neurodevelopmental syndrome, MIM# 621377; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATXN7L3",
"entity_type": "gene"
},
{
"created": "2025-10-12T17:10:17.997906+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATXN7L3 were changed from Neurodevelopmental disorder, MONDO_0100500, ATXN7L3-related to Harel-Tora neurodevelopmental syndrome, MIM# 621377",
"entity_name": "ATXN7L3",
"entity_type": "gene"
},
{
"created": "2025-10-12T17:09:31.828652+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATXN7L3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Harel-Tora neurodevelopmental syndrome, MIM# 621377; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATXN7L3",
"entity_type": "gene"
},
{
"created": "2025-10-12T12:41:57.187302+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3371",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NAMPT as ready",
"entity_name": "NAMPT",
"entity_type": "gene"
},
{
"created": "2025-10-12T12:41:57.174955+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3371",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nampt has been classified as Red List (Low Evidence).",
"entity_name": "NAMPT",
"entity_type": "gene"
},
{
"created": "2025-10-12T12:41:28.787759+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3371",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NAMPT was added\ngene: NAMPT was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NAMPT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAMPT were set to 41004591\nPhenotypes for gene: NAMPT were set to hereditary motor and sensory neuropathy MONDO:0015358\nReview for gene: NAMPT was set to RED\nAdded comment: A single family reported.\r\nDisease Context: sensory and motor neuropathy with motor coordination impairment, muscle atrophy/weakness, foot/hand deformities, loss of sensation and positive Babinski sign\r\nFamilies: 1 family\r\nPatients: 2\r\nPhenotype: impaired motor coordination, muscle atrophy/weakness, foot and hand deformities, diminished sensation, positive Babinski sign\r\nMode of inheritance: Biallelic (autosomal recessive; parents heterozygous carriers, affected siblings homozygous). No mention of consanguinity\r\nVariants: c.472G>C (p.P158A) (missense)\r\nPopulation Frequency: gnomAD: 0\r\nSegregation: parents heterozygous, both affected siblings homozygous (pedigree confirmed)\r\nFunctional Studies: recombinant NAMPT protein activity assay; thermal shift stability assay; patient fibroblast bioenergetic, mitochondrial and oxidative stress assays; CRISPR‑generated isogenic fibroblasts; homozygous p.P158A mouse model showing metabolic, synaptic and motor neuron defects; rescue with NMN/P7C3\r\nPrior Reports: none. \nSources: Literature",
"entity_name": "NAMPT",
"entity_type": "gene"
},
{
"created": "2025-10-11T18:51:37.779445+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3370",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DBX1 as ready",
"entity_name": "DBX1",
"entity_type": "gene"
},
{
"created": "2025-10-11T18:51:37.769288+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3370",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dbx1 has been classified as Red List (Low Evidence).",
"entity_name": "DBX1",
"entity_type": "gene"
},
{
"created": "2025-10-11T18:51:28.764765+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3370",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DBX1 was added\ngene: DBX1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DBX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DBX1 were set to 40995053\nPhenotypes for gene: DBX1 were set to central hypoventilation syndrome, congenital MONDO:0800031\nReview for gene: DBX1 was set to RED\nAdded comment: Disease Context: Congenital central hypoventilation syndrome (atypical CCHS) with central hypotonia, global developmental delay, seizures, autoaggressive behavior\r\nFamilies: 1 (1 unrelated)\r\nPatients: 1\r\nPhenotype: congenital central hypoventilation, central hypotonia, global developmental delay, seizures, autoaggressive behavior\r\nMode of inheritance: Biallelic (consanguineous parents (first cousins))\r\nVariants: c.340_341delGC (frameshift)\r\nPopulation Frequency: NR\r\nSegregation: NR\r\nFunctional Studies: mouse Dbx1 knockout lethality indicating essential role in respiration\r\nPrior Reports: 0 \nSources: Literature",
"entity_name": "DBX1",
"entity_type": "gene"
},
{
"created": "2025-10-11T18:34:30.685871+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.179",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TRIM49 as ready",
"entity_name": "TRIM49",
"entity_type": "gene"
},
{
"created": "2025-10-11T18:34:30.674212+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.179",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: trim49 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRIM49",
"entity_type": "gene"
},
{
"created": "2025-10-11T18:34:22.612648+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3369",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TRIM49 as ready",
"entity_name": "TRIM49",
"entity_type": "gene"
},
{
"created": "2025-10-11T18:34:22.604148+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3369",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: trim49 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRIM49",
"entity_type": "gene"
}
]
}