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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=66",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=64",
"results": [
{
"created": "2026-01-07T12:51:09.929220+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UNC13A were set to 28192369",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2026-01-07T12:50:32.051716+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UNC13A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2026-01-07T12:49:47.407976+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UNC13A were changed from Congenital myasthenia; dyskinesia; autism; developmental delay; neurodevelopmental disorder MONDO#0700092, UNC13A-related to neurodevelopmental disorder MONDO#0700092, UNC13A-related; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2026-01-07T12:49:17.273428+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UNC13A were set to 27648472; 28192369",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2026-01-07T12:48:47.006177+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UNC13A: Changed publications: 27648472, 28192369, 41125872",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2026-01-07T12:48:42.408002+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.327",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene UNC13A from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-07T12:48:25.338739+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UNC13A: Changed rating: GREEN",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2026-01-07T12:48:18.238334+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UNC13A: Added comment: PMID 41125872 reports 48 individuals with neurodevelopmental disorders and UNC13A variants. Of these, 20 classified as pathogenic. Of these 6 individuals had biallelic variants and presented with severe-to-profound GDD or intellectual disability, hypotonia and seizures of different types (largely controllable with medication) or death in early childhood caused by respiratory failure after pneumonia in one case. Mechanism for this subgroup is LoF with carrier parents unaffected.\r\n\r\nA second group of 13 patients (21 months to 32 years old) harboured pathogenic, heterozygous de novo missense variants with multiple substitutions at amino acids 808, 811 and 814 (hinge region). They presented with variable degrees of GDD, hypotonia, seizures of different types (mainly refractory to treatment) and typically exhibited ataxia, tremor or dyskinetic movements rarely observed in other patients.\r\n\r\nAlso a family identified with at least four affected members across two generations (4 years to 35 years old) harbouring a pathogenic heterozygous missense variant (C587F) that caused learning difficulties to mild–moderate intellectual disability as well as controlled seizures.\r\n\r\nThree different types of mechanism of pathogenicity proposed.; Changed phenotypes: neurodevelopmental disorder MONDO#0700092, UNC13A-related, Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2026-01-07T12:19:04.423543+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UNC13A were changed from Congenital myasthenia; dyskinesia; autism; developmental delay; neurodevelopmental disorder MONDO#0700092, UNC13A-related to neurodevelopmental disorder MONDO#0700092, UNC13A-related; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2026-01-07T12:18:46.387970+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UNC13A were set to 27648472; 28192369",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2026-01-07T12:17:58.789468+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UNC13A: Added comment: PMID 41125872 reports 48 individuals with neurodevelopmental disorders and UNC13A variants. Of these, 20 classified as pathogenic. Of these 6 individuals had biallelic variants and presented with severe-to-profound GDD or intellectual disability, hypotonia and seizures of different types (largely controllable with medication) or death in early childhood caused by respiratory failure after pneumonia in one case. Mechanism for this subgroup is LoF with carrier parents unaffected.\r\n\r\nA second group of 13 patients (21 months to 32 years old) harboured pathogenic, heterozygous de novo missense variants with multiple substitutions at amino acids 808, 811 and 814 (hinge region). They presented with variable degrees of GDD, hypotonia, seizures of different types (mainly refractory to treatment) and typically exhibited ataxia, tremor or dyskinetic movements rarely observed in other patients.\r\n\r\nAlso a family identified with at least four affected members across two generations (4 years to 35 years old) harbouring a pathogenic heterozygous missense variant (C587F) that caused learning difficulties to mild–moderate intellectual disability as well as controlled seizures.\r\n\r\nThree different types of mechanism of pathogenicity proposed.; Changed rating: GREEN; Changed publications: 27648472, 28192369, 41125872; Changed phenotypes: neurodevelopmental disorder MONDO#0700092, UNC13A-related, Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455",
"entity_name": "UNC13A",
"entity_type": "gene"
},
{
"created": "2026-01-07T10:40:47.083656+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.552",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Copied gene WDR83 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-07T10:40:46.607634+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.552",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: WDR83 was added\ngene: WDR83 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: WDR83 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: WDR83 were set to 41381792\nPhenotypes for gene: WDR83 were set to Neurodevelopmental disorder, MONDO:0700092, WDR83-related\nMode of pathogenicity for gene: WDR83 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "WDR83",
"entity_type": "gene"
},
{
"created": "2026-01-07T10:39:51.460199+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3981",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: WDR83 was added\ngene: WDR83 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: WDR83 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: WDR83 were set to 41381792\nPhenotypes for gene: WDR83 were set to Neurodevelopmental disorder, MONDO:0700092, WDR83-related\nMode of pathogenicity for gene: WDR83 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: WDR83 was set to RED\nAdded comment: 1 individual from 1 unrelated family with a de novo heterozygous missense variant (p.L218P) in WDR83 gene. Clinical presentation of a neurodevelopmental disorder characterised by global developmental delay, intellectual disability, growth retardation and dysmorphic facial features. WDR83 encodes a WD‑repeat scaffold protein (MORG1) that regulates MAPK/ERK signalling, HIF‑1α degradation, cell polarity and autophagy.\r\n\r\nIn vivo, acute expression via in utero electroporation promoted premature cell cycle exit of neural stem cells, impaired cortical neuron migration, and disrupted dendritic arborization, whereas axonal projections to the contralateral hemisphere remained unaffected. Cortical neurons expressing WDR83-L218P exhibited reduced spine head diameter. In vitro, WDR83-L218P expression inhibited axon elongation in primary cultured hippocampal neurons. The variant is suspected to exert a dominant-negative effect. \nSources: Literature",
"entity_name": "WDR83",
"entity_type": "gene"
},
{
"created": "2026-01-06T19:03:43.245825+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAH9 as ready",
"entity_name": "DNAH9",
"entity_type": "gene"
},
{
"created": "2026-01-06T19:03:43.236239+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah9 has been classified as Green List (High Evidence).",
"entity_name": "DNAH9",
"entity_type": "gene"
},
{
"created": "2026-01-06T19:03:10.516852+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene DNAH9 from panel Ciliary Dyskinesia",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-06T19:03:10.436810+11:00",
"panel_name": "Infertility and Recurrent Pregnancy Loss",
"panel_id": 4455,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAH9 was added\ngene: DNAH9 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: DNAH9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAH9 were set to 30471717; 30471718; 33610189; 39523437; 38884051\nPhenotypes for gene: DNAH9 were set to Ciliary dyskinesia, primary, 40, MIM# 618300",
"entity_name": "DNAH9",
"entity_type": "gene"
},
{
"created": "2026-01-06T19:02:57.784072+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAH9 were set to 30471717; 30471718",
"entity_name": "DNAH9",
"entity_type": "gene"
},
{
"created": "2026-01-06T19:02:27.061547+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DNAH9: Added comment: Many families with classic respiratory disease and laterality defects, but also 5 families with severe asthenozoospermia.; Changed publications: 30471717, 30471718, 33610189, 39523437, 38884051",
"entity_name": "DNAH9",
"entity_type": "gene"
},
{
"created": "2026-01-06T18:56:08.574436+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL2A1 as ready",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2026-01-06T18:56:08.564016+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col2a1 has been classified as Green List (High Evidence).",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2026-01-06T18:56:00.297556+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL2A1 were set to ",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2026-01-06T18:55:27.978003+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL2A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2026-01-06T18:55:04.368916+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31755234; Phenotypes: spondyloepiphyseal dysplasia congenita MONDO:0008471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2026-01-06T18:53:52.561253+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL2A1 were changed from Achondrogenesis, type II or hypochondrogenesis 200610; Avascular necrosis of the femoral head 608805; Czech dysplasia 609162; Epiphyseal dysplasia, multiple, with myopia and deafness 132450; Kniest dysplasia 156550; Legg-Calve-Perthes disease 150600; Osteoarthritis with mild chondrodysplasia 604864; Platyspondylic skeletal dysplasia, Torrance type 151210; SED congenita 183900; SMED Strudwick type 184250; Spondyloepiphyseal dysplasia, Stanescu type 616583; Spondyloperipheral dysplasia 271700; Stickler sydrome, type I, nonsyndromic ocular 609508; Stickler syndrome, type I 108300; Vitreoretinopathy with phalangeal epiphyseal dysplasia to Type 2 collagenopathy MONDO:0022800",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2026-01-06T18:53:01.957658+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL2A1 were set to 15895462; 17721977; 27234559; 20179744",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2026-01-06T18:52:38.174054+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL2A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2026-01-06T18:52:20.683135+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31755234; Phenotypes: spondyloepiphyseal dysplasia congenita MONDO:0008471; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2026-01-06T18:24:02.340517+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFB7 as ready",
"entity_name": "NDUFB7",
"entity_type": "gene"
},
{
"created": "2026-01-06T18:24:02.332738+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufb7 has been classified as Green List (High Evidence).",
"entity_name": "NDUFB7",
"entity_type": "gene"
},
{
"created": "2026-01-06T18:23:45.325448+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.551",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene NDUFB7 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-06T18:23:44.935027+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFB7 was added\ngene: NDUFB7 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature\nMode of inheritance for gene: NDUFB7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFB7 were set to 33502047; 27626371; 40025060\nPhenotypes for gene: NDUFB7 were set to Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135",
"entity_name": "NDUFB7",
"entity_type": "gene"
},
{
"created": "2026-01-06T18:22:43.040738+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFB7 were changed from Congenital lactic acidosis; hypertrophic cardiomyopathy to Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135",
"entity_name": "NDUFB7",
"entity_type": "gene"
},
{
"created": "2026-01-06T18:22:08.680735+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFB7 were set to 33502047; 27626371",
"entity_name": "NDUFB7",
"entity_type": "gene"
},
{
"created": "2026-01-06T18:21:08.482492+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFB7 as Green List (high evidence)",
"entity_name": "NDUFB7",
"entity_type": "gene"
},
{
"created": "2026-01-06T18:21:08.472713+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufb7 has been classified as Green List (High Evidence).",
"entity_name": "NDUFB7",
"entity_type": "gene"
},
{
"created": "2026-01-06T18:20:36.383709+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFB7: Added comment: PMID 40025060 reports second individual with compound heterozygous NM_004146.5:c.133_135del and NM_004146.5:c.311G>C variants presenting with lactic acidosis, premature birth, growth deficiency, ventral hernia, brain MRI pons abnormalities, developmental delay, and mild intellectual disability. Patient fibroblasts show Complex I assembly deficiency; zebrafish knockdown of ndufb7 reproduces brain ventricle and neuronal defects, elevated lactate. Two families only but strong biological candidate with good functional data from different systems.; Changed rating: GREEN; Changed publications: 40025060",
"entity_name": "NDUFB7",
"entity_type": "gene"
},
{
"created": "2026-01-06T18:19:46.136230+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFB7 were set to 33502047; 27626371",
"entity_name": "NDUFB7",
"entity_type": "gene"
},
{
"created": "2026-01-06T18:18:48.789803+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFB7: Changed publications: 40025060",
"entity_name": "NDUFB7",
"entity_type": "gene"
},
{
"created": "2026-01-06T18:18:28.553080+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFB7 as Green List (high evidence)",
"entity_name": "NDUFB7",
"entity_type": "gene"
},
{
"created": "2026-01-06T18:18:28.544852+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufb7 has been classified as Green List (High Evidence).",
"entity_name": "NDUFB7",
"entity_type": "gene"
},
{
"created": "2026-01-06T18:18:10.474357+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NDUFB7: Added comment: PMID 40025060 reports second individual with compound heterozygous NM_004146.5:c.133_135del and NM_004146.5:c.311G>C variants presenting with lactic acidosis, premature birth, growth deficiency, ventral hernia, brain MRI pons abnormalities, developmental delay, and mild intellectual disability. Patient fibroblasts show Complex I assembly deficiency; zebrafish knockdown of ndufb7 reproduces brain ventricle and neuronal defects, elevated lactate.\r\n\r\nTwo families only but strong biological candidate with good functional data from different systems.; Changed rating: GREEN",
"entity_name": "NDUFB7",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:40:52.583908+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FIBP as Green List (high evidence)",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:40:52.571307+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fibp has been classified as Green List (High Evidence).",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:40:34.346352+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FIBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 40099975, 37876348, 36919607, 27183861, 26660953; Phenotypes: Thauvin-Robinet-Faivre syndrome, MIM#617107; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:39:44.242518+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FIBP were set to 26660953; 27183861",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:39:14.934016+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FIBP as Green List (high evidence)",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:39:14.925120+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fibp has been classified as Green List (High Evidence).",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:38:53.890154+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FIBP: Changed rating: GREEN",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:38:45.988438+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FIBP: Added comment: Beyond the two families previously reviewed (PMIDs 26660953; 27183861), four additional studies (PMIDs 36919607, 37218527, 37876348, 40099975) contribute four new unrelated families (total six unrelated families, nine patients) with a consistent autosomal‑recessive overgrowth syndrome. All six families have biallelic loss‑of‑function FIBP variants (nonsense or frameshift leading to NMD). Detailed clinical descriptions include overgrowth, macrocephaly, facial dysmorphism, developmental delay/intellectual disability, renal dysplasia and, in two families, early‑onset tumor predisposition. Segregation analyses confirm recessive inheritance in every case. Functional work (RT‑qPCR, fibroblast proliferation assays, mouse embryonic expression) demonstrates reduced FIBP expression and increased cell proliferation, supporting pathogenicity.; Changed publications: 40099975, 37876348, 36919607, 27183861, 26660953",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:38:18.873093+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FIBP were set to 26660953; 27183861",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:37:54.231154+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FIBP as Green List (high evidence)",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:37:54.220203+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fibp has been classified as Green List (High Evidence).",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:37:26.809201+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FIBP: Added comment: Beyond the two families previously reviewed (PMIDs 26660953; 27183861), four additional studies (PMIDs 36919607, 37218527, 37876348, 40099975) contribute four new unrelated families (total six unrelated families, nine patients) with a consistent autosomal‑recessive overgrowth syndrome. All six families have biallelic loss‑of‑function FIBP variants (nonsense or frameshift leading to NMD). Detailed clinical descriptions include overgrowth, macrocephaly, facial dysmorphism, developmental delay/intellectual disability, renal dysplasia and, in two families, early‑onset tumor predisposition. Segregation analyses confirm recessive inheritance in every case. Functional work (RT‑qPCR, fibroblast proliferation assays, mouse embryonic expression) demonstrates reduced FIBP expression and increased cell proliferation, supporting pathogenicity.; Changed rating: GREEN; Changed publications: 40099975, 37876348, 36919607, 27183861, 26660953",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:36:46.527124+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FIBP were set to 26660953; 27183861",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:36:24.516821+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FIBP as Green List (high evidence)",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:36:24.509203+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fibp has been classified as Green List (High Evidence).",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:36:02.602317+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FIBP: Added comment: Beyond the two families previously reviewed (PMIDs 26660953; 27183861), four additional studies (PMIDs 36919607, 37218527, 37876348, 40099975) contribute four new unrelated families (total six unrelated families, nine patients) with a consistent autosomal‑recessive overgrowth syndrome. All six families have biallelic loss‑of‑function FIBP variants (nonsense or frameshift leading to NMD). Detailed clinical descriptions include overgrowth, macrocephaly, facial dysmorphism, developmental delay/intellectual disability, renal dysplasia and, in two families, early‑onset tumor predisposition. Segregation analyses confirm recessive inheritance in every case. Functional work (RT‑qPCR, fibroblast proliferation assays, mouse embryonic expression) demonstrates reduced FIBP expression and increased cell proliferation, supporting pathogenicity.; Changed rating: GREEN; Changed publications: 40099975, 37876348, 36919607, 27183861, 26660953",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:35:38.429258+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FIBP as Green List (high evidence)",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:35:38.418589+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fibp has been classified as Green List (High Evidence).",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:35:21.709349+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3974",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FIBP: Added comment: Beyond the two families previously reviewed (PMIDs 26660953; 27183861), four additional studies (PMIDs 36919607, 37218527, 37876348, 40099975) contribute four new unrelated families (total six unrelated families, nine patients) with a consistent autosomal‑recessive overgrowth syndrome. All six families have biallelic loss‑of‑function FIBP variants (nonsense or frameshift leading to NMD). Detailed clinical descriptions include overgrowth, macrocephaly, facial dysmorphism, developmental delay/intellectual disability, renal dysplasia and, in two families, early‑onset tumor predisposition. Segregation analyses confirm recessive inheritance in every case. Functional work (RT‑qPCR, fibroblast proliferation assays, mouse embryonic expression) demonstrates reduced FIBP expression and increased cell proliferation, supporting pathogenicity.; Changed rating: GREEN; Changed publications: 40099975, 37876348, 36919607, 27183861, 26660953",
"entity_name": "FIBP",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:29:21.779399+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3974",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DPH2 as Green List (high evidence)",
"entity_name": "DPH2",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:29:21.769477+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3974",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dph2 has been classified as Green List (High Evidence).",
"entity_name": "DPH2",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:29:07.006321+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DPH2: Added comment: Third family reported with biallelic LoF variant c.1429C>T (p.Arg477*) presenting with developmental delay, proportionate short stature, sparse hair, dysmorphic facial features, hypotonia, seizures, neuroimaging abnormalities, and behavioural issues.; Changed rating: GREEN; Changed publications: 40130534",
"entity_name": "DPH2",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:28:57.891156+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DPH2 were set to 32576952; 27421267",
"entity_name": "DPH2",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:28:25.394625+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DPH2 as Green List (high evidence)",
"entity_name": "DPH2",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:28:25.381599+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dph2 has been classified as Green List (High Evidence).",
"entity_name": "DPH2",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:27:58.387893+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DPH2: Added comment: Third family reported with biallelic LoF variant c.1429C>T (p.Arg477*) presenting with developmental delay, proportionate short stature, sparse hair, dysmorphic facial features, hypotonia, seizures, neuroimaging abnormalities, and behavioral issues.; Changed rating: GREEN; Changed publications: 40130534",
"entity_name": "DPH2",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:24:50.188788+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WASHC3 were set to DOI: https://doi.org/10.1016/j.gimo.2024.101915",
"entity_name": "WASHC3",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:24:32.395391+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: WASHC3: Changed publications: 40129681",
"entity_name": "WASHC3",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:24:11.718201+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WASHC3 were set to DOI: https://doi.org/10.1016/j.gimo.2024.101915",
"entity_name": "WASHC3",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:23:42.623344+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: WASHC3: Changed publications: 40129681",
"entity_name": "WASHC3",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:21:54.872439+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MCM2 were set to 26196677",
"entity_name": "MCM2",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:21:33.793268+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3971",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MCM2: Added comment: Three additional families reported with missense variants. However, variants not segregated in two of the individuals; the variants reported in 35652205 was inherited from a mildly affected parent. The reported variants are present in gnomAD.\r\n\r\nGiven lack of additional supporting evidence and gnomAD frequencies, retain RED rating.; Changed publications: 26196677, 35652205, 40069133",
"entity_name": "MCM2",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:20:46.447650+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MCM2 were set to 26196677",
"entity_name": "MCM2",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:20:18.250579+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MCM2: Added comment: Three additional families reported with missense variants. However, variants not segregated in two of the individuals; the variants reported in 35652205 was inherited from a mildly affected parent. The reported variants are present in gnomAD.\r\n\r\nGiven lack of additional supporting evidence and gnomAD frequencies, retain RED rating.; Changed publications: 26196677, 35652205, 40069133; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MCM2",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:14:19.040162+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEC24C as ready",
"entity_name": "SEC24C",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:14:19.032530+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec24c has been classified as Red List (Low Evidence).",
"entity_name": "SEC24C",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:14:09.397379+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEC24C as ready",
"entity_name": "SEC24C",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:14:09.389866+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec24c has been classified as Red List (Low Evidence).",
"entity_name": "SEC24C",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:13:59.755116+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEC24C as ready",
"entity_name": "SEC24C",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:13:59.745208+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec24c has been classified as Red List (Low Evidence).",
"entity_name": "SEC24C",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:13:50.126014+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEC24C as ready",
"entity_name": "SEC24C",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:13:50.118816+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec24c has been classified as Red List (Low Evidence).",
"entity_name": "SEC24C",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:12:22.526067+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.545",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene SEC24C from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-06T17:12:22.042594+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEC24C was added\ngene: SEC24C was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Red,Literature\nMode of inheritance for gene: SEC24C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SEC24C were set to 40131364\nPhenotypes for gene: SEC24C were set to Neurodevelopmental disorder, MONDO:0700092, SEC24C-related",
"entity_name": "SEC24C",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:11:40.928510+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.326",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene SEC24C from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-06T17:11:40.530685+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEC24C was added\ngene: SEC24C was added to Genetic Epilepsy. Sources: Expert Review Red,Literature\nMode of inheritance for gene: SEC24C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SEC24C were set to 40131364\nPhenotypes for gene: SEC24C were set to Neurodevelopmental disorder, MONDO:0700092, SEC24C-related",
"entity_name": "SEC24C",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:10:47.965223+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.314",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene SEC24C from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-06T17:10:47.799513+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEC24C was added\ngene: SEC24C was added to Deafness_IsolatedAndComplex. Sources: Expert Review Red,Literature\nMode of inheritance for gene: SEC24C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SEC24C were set to 40131364\nPhenotypes for gene: SEC24C were set to Neurodevelopmental disorder, MONDO:0700092, SEC24C-related",
"entity_name": "SEC24C",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:10:09.886927+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.533",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene SEC24C from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-06T17:10:09.676856+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEC24C was added\ngene: SEC24C was added to Cataract. Sources: Expert Review Red,Literature\nMode of inheritance for gene: SEC24C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SEC24C were set to 40131364\nPhenotypes for gene: SEC24C were set to Neurodevelopmental disorder, MONDO:0700092, SEC24C-related",
"entity_name": "SEC24C",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:09:01.950795+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3971",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEC24C as ready",
"entity_name": "SEC24C",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:09:01.941429+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3971",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec24c has been classified as Red List (Low Evidence).",
"entity_name": "SEC24C",
"entity_type": "gene"
},
{
"created": "2026-01-06T17:08:53.051800+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3971",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEC24C was added\ngene: SEC24C was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SEC24C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SEC24C were set to 40131364\nPhenotypes for gene: SEC24C were set to Neurodevelopmental disorder, MONDO:0700092, SEC24C-related\nReview for gene: SEC24C was set to RED\nAdded comment: PMID 40131364 reports 4 individuals from a consanguineous Turkish family with biallelic loss-of-function frameshift c.333del (p.Ser112Profs*115) variant presenting with neonatal‑onset severe syndromic epileptic encephalopathy, congenital cataracts, primary microcephaly, macrocytic anaemia, sensorineural hearing loss, liver dysfunction and dysmorphic facial features. The variant segregates with autosomal recessive inheritance and functional studies in patient fibroblasts and zebrafish knockouts demonstrate >90% loss of SEC24C expression, impaired ER‑Golgi trafficking and recapitulation of cataract and neurodevelopmental phenotypes. \nSources: Literature",
"entity_name": "SEC24C",
"entity_type": "gene"
},
{
"created": "2026-01-06T16:51:23.024959+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARAF as ready",
"entity_name": "ARAF",
"entity_type": "gene"
},
{
"created": "2026-01-06T16:51:23.004431+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: araf has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARAF",
"entity_type": "gene"
},
{
"created": "2026-01-06T16:48:52.674368+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3970",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene ARAF from panel Lymphoedema_nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-01-06T16:48:51.978043+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARAF was added\ngene: ARAF was added to Mendeliome. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: ARAF was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ARAF were set to 31263281\nPhenotypes for gene: ARAF were set to Lymphatic malformation, MONDO:0019313, ARAF-related\nMode of pathogenicity for gene: ARAF was set to Other",
"entity_name": "ARAF",
"entity_type": "gene"
}
]
}