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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=164",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=162",
"results": [
{
"created": "2025-09-25T13:46:12.908955+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTC19 as ready",
"entity_name": "TTC19",
"entity_type": "gene"
},
{
"created": "2025-09-25T13:46:12.900259+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc19 has been classified as Green List (High Evidence).",
"entity_name": "TTC19",
"entity_type": "gene"
},
{
"created": "2025-09-25T13:46:09.050427+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TTC19 as Green List (high evidence)",
"entity_name": "TTC19",
"entity_type": "gene"
},
{
"created": "2025-09-25T13:46:09.038999+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc19 has been classified as Green List (High Evidence).",
"entity_name": "TTC19",
"entity_type": "gene"
},
{
"created": "2025-09-25T13:45:56.664798+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTC19 was added\ngene: TTC19 was added to Hereditary Neuropathy - complex. Sources: Expert list\nMode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTC19 were set to 40946707; 37927170; 25652355\nPhenotypes for gene: TTC19 were set to Mitochondrial complex III deficiency, nuclear type 2, MIM#615157\nReview for gene: TTC19 was set to GREEN\nAdded comment: Neuropathy reported in at least 3 individuals with this condition. \nSources: Expert list",
"entity_name": "TTC19",
"entity_type": "gene"
},
{
"created": "2025-09-25T13:39:34.986803+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTGF as ready",
"entity_name": "CTGF",
"entity_type": "gene"
},
{
"created": "2025-09-25T13:39:34.979120+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctgf has been classified as Amber List (Moderate Evidence).",
"entity_name": "CTGF",
"entity_type": "gene"
},
{
"created": "2025-09-25T13:39:22.828316+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CTGF as Amber List (moderate evidence)",
"entity_name": "CTGF",
"entity_type": "gene"
},
{
"created": "2025-09-25T13:39:22.821476+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctgf has been classified as Amber List (Moderate Evidence).",
"entity_name": "CTGF",
"entity_type": "gene"
},
{
"created": "2025-09-25T13:39:10.908314+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTGF was added\ngene: CTGF was added to Clefting disorders. Sources: Expert Review\nMode of inheritance for gene: CTGF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTGF were set to 39506047; 39414788; 12736220\nPhenotypes for gene: CTGF were set to Kyphomelic dysplasia, OMIM:211350; kyphomelic dysplasia, MONDO:0008881; spondyloepimetaphyseal dysplasia, MONDO:0100510\nReview for gene: CTGF was set to AMBER\nAdded comment: PMID: 39506047 (2025) reported three individuals from two unrelated families with different homozygous CCN2 variants and kyphomelic dysplasia - all had cleft palate or bifid uvula as part of their phenotype. Ccn2-deficient mice also show skeletal dysmorphisms as well as secondary cleft palate, supporting this association. \nSources: Expert Review",
"entity_name": "CTGF",
"entity_type": "gene"
},
{
"created": "2025-09-25T13:33:33.313984+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 20206336, 22052739, 21271665, https://doi.org/10.1101/2024.07.18.24310488; Phenotypes: Hearing loss disorder, MONDO:0005365, TBX2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2025-09-25T13:32:03.444055+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBX2 as ready",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2025-09-25T13:32:03.433192+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2025-09-25T13:31:56.241767+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBX2 as Amber List (moderate evidence)",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2025-09-25T13:31:56.231619+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2025-09-25T13:31:35.608500+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBX2 was added\ngene: TBX2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review\nMode of inheritance for gene: TBX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TBX2 were set to 20206336; 22052739; 21271665; https://doi.org/10.1101/2024.07.18.24310488\nPhenotypes for gene: TBX2 were set to Hearing loss disorder, MONDO:0005365, TBX2-related\nReview for gene: TBX2 was set to AMBER\nAdded comment: There is some emerging evidence for the association of TBX2 and monogenic hearing loss. Several reported individuals with de novo microdeletions encompassing TBX2 had sensorineural hearing loss as one of the symptoms (PMID: 20206336 Ballif et al., 2010; PMID: 22052739 Schönewolf-Greulich et al., 2011; PMID: 21271665 Nimmakayalu et al., 2011). TBX2 and TBX4 are suggested as strong candidate genes. However, the effect of other genes being deleted is hard to decouple.\r\n\r\nA study by Hua et al. ( https://doi.org/10.1101/2024.07.18.24310488, pre-print, posted in July 2024) identified two Chinese families with late onset progressive sensorineural hearing loss. Affected members in each family were heterozygous for c.977delA p.(Asp326Alafs*42) and c.987delC p.(Ala330Argfs*38) respectively. Both variants are extremely rare and co-segregate with disease. Method: Linkage analysis + WGS.\r\n\r\nFamily 1: five generations, 21/102 individuals had hearing loss (AD inheritance). Age of onset 4-40 years old. Monitoring at 10 year intervals showed slowly progressive auditory decline. 9 family member also exhibited spontaneous nystagmus (onset 0-5 years). Caveat: Six other shared variants were identified in RKD3, DYNC2LI1, FAHD2A, OR5K3, TBX2, ZNF135 - autosomal dominant pattern.\r\n\r\nFamily 2: 4/14 members had hearing loss, proband had severe hearing loss with onset before 5yo; patient II.6 had late onset hearing loss (onset at 26-30yo) with nystagmus observed in childhood.\r\n\r\nFunctional data:\r\nTbx2 is essential for inner hair cell (IHC) differentiation in mice. Conditional Tbx2 knockout causes embryonic IHCs differentiate as outer hair cells (OHCs). Both inner and outer hair cells are required for hearing (PMID: 35508658 Garcia-Anoveros et al., 2022). Tbx2-/- knockout mouse embryos exhibit lethal cardiovascular defects (PMID: 15459098 Harrelson et a., 2004). In https://doi.org/10.1101/2024.07.18.24310488, Tbx2-/- mice were also embryonic lethal. Heterozygous Tbx2+/- mice had normal Auditory Brainstem Response thresholds at day 70. They started showing signs of hearing loss at day 100, and they exhibited severe hearing loss at day 150 – consistent with late-onset hearing loss reported in some patients. Interestingly, p.(Asp326Alafs*42) knock-in mice did not show any signs of hearing loss. \nSources: Expert Review",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2025-09-25T13:29:02.650919+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NTN1 were changed from Mirror movements 4 MIM#618264 to Mirror movements 4 MIM#618264; Hearing loss disorder, MONDO:0005365, NTN1-related",
"entity_name": "NTN1",
"entity_type": "gene"
},
{
"created": "2025-09-25T13:28:47.540965+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NTN1 were set to 25763452; 28945198; 33472083",
"entity_name": "NTN1",
"entity_type": "gene"
},
{
"created": "2025-09-25T13:28:29.850414+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NTN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 39648562; Phenotypes: Hearing loss disorder, MONDO:0005365, NTN1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NTN1",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:59:43.810687+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NTN1 as ready",
"entity_name": "NTN1",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:59:43.800414+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ntn1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NTN1",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:59:40.220057+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NTN1 as Amber List (moderate evidence)",
"entity_name": "NTN1",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:59:40.210128+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ntn1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NTN1",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:59:19.556471+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NTN1: Changed rating: AMBER",
"entity_name": "NTN1",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:59:13.668829+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NTN1 was added\ngene: NTN1 was added to Deafness_IsolatedAndComplex. Sources: Expert Review\nMode of inheritance for gene: NTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NTN1 were set to 39648562\nPhenotypes for gene: NTN1 were set to Hearing loss disorder, MONDO:0005365, NTN1-related\nAdded comment: PMID: 39648562 (Toms et al., 2024) reports a patient with bilateral sensorineural hearing loss, heterozygous for a de novo variant in NTN1: NM_004822.3:c.1483T>A p.(Tyr495Asn). Sequencing method: WGS.The patient (Female, 30 years old, White British) also had chorioretinal coloboma and microphthalmia, and right hand polydactyly. The C-terminus variant is not found in gnomAD v4.1.0; in silico prediction tools: Revel score = 0.5 (Uncertain), AlphaMissense score = 0.806 (Deleterious Supporting).\r\n\r\nIn PMID: 39648562, morpholino knockdown of ntn1a in zebrafish (86% gene similarity to human ortholog) had ocular coloboma and sensory hair cell defects. At 5 dpf, hair cells of the lateral line neuromasts were found have abnormal morphology. There was also a significant reduction in the overall number of sensory hair cells present. \nSources: Expert Review",
"entity_name": "NTN1",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:53:41.154035+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAI2 as ready",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:53:41.143388+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnai2 has been classified as Green List (High Evidence).",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:50:37.658381+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNAI2 as Green List (high evidence)",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:50:37.647021+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnai2 has been classified as Green List (High Evidence).",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:50:00.926391+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNAI2 was added\ngene: GNAI2 was added to Combined Immunodeficiency. Sources: Literature\nMode of inheritance for gene: GNAI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GNAI2 were set to 31036916; 40926810; 39298586\nPhenotypes for gene: GNAI2 were set to Syndromic disease MONDO:0002254, GNAI2-related\nReview for gene: GNAI2 was set to GREEN\nAdded comment: PMID: 40926810 | 20 individuals from 18 families with a multisystem syndrome termed MAGIS (“Midline malformations of the brain, Anterior pituitary gland dysfunction, Growth retardation, Immunodysregulation/immunodeficiency, and Skeletal defects”) caused by heterozygous germline activating mutations. Considerable phenotypic heterogeneity with inter- and intra-familial variability. Majority of variants occur at recurrent residues Thr182 (Thr182Ala/Ile/Pro in six families) and Arg179 (Arg179His/Cys in seven patients from five families). The patients’ mutations were clustered in the P-loop and switch regions of the Ras-like domain of Gα, which is critical for guanine-nucleotide binding and GTPase activity. See PMID: 39298586 supplementary data for patient details of the above cohort. Other common features in the cohort also include intellectual disability (9/17), neurodevelopmental delay (13/19), motor delay (13/19), deafness (11/15), cryptochordism (7/14).\r\n\r\nImmune-mediated disease (95%) is widely present in MAGIS as both immunodeficiency (90%) and immune dysregulation (50%; systemic autoinflammation, 15%, autoimmunity, 35%, and splenomegaly, 35%). \nSources: Literature",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:48:39.998462+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAI2 as ready",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:48:39.979985+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnai2 has been classified as Green List (High Evidence).",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:48:34.481856+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNAI2 as Green List (high evidence)",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:48:34.471734+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnai2 has been classified as Green List (High Evidence).",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:48:12.065499+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNAI2 was added\ngene: GNAI2 was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: GNAI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GNAI2 were set to 31036916; 40926810; 39298586\nPhenotypes for gene: GNAI2 were set to Syndromic disease MONDO:0002254, GNAI2-related\nReview for gene: GNAI2 was set to GREEN\nAdded comment: PMID: 40926810 | 20 individuals from 18 families with a multisystem syndrome termed MAGIS (“Midline malformations of the brain, Anterior pituitary gland dysfunction, Growth retardation, Immunodysregulation/immunodeficiency, and Skeletal defects”) caused by heterozygous germline activating mutations. Considerable phenotypic heterogeneity with inter- and intra-familial variability. Majority of variants occur at recurrent residues Thr182 (Thr182Ala/Ile/Pro in six families) and Arg179 (Arg179His/Cys in seven patients from five families). The patients’ mutations were clustered in the P-loop and switch regions of the Ras-like domain of Gα, which is critical for guanine-nucleotide binding and GTPase activity. See PMID: 39298586 supplementary data for patient details of the above cohort. Other common features in the cohort also include intellectual disability (9/17), neurodevelopmental delay (13/19), motor delay (13/19), deafness (11/15), cryptochordism (7/14).\r\n\r\nImmune-mediated disease (95%) is widely present in MAGIS as both immunodeficiency (90%) and immune dysregulation (50%; systemic autoinflammation, 15%, autoimmunity, 35%, and splenomegaly, 35%). \nSources: Literature",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:44:52.083257+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAI2 as ready",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:44:52.074073+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnai2 has been classified as Green List (High Evidence).",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:44:48.497532+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNAI2 as Green List (high evidence)",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:44:48.485560+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnai2 has been classified as Green List (High Evidence).",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:44:41.933921+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNAI2 was added\ngene: GNAI2 was added to Pituitary hormone deficiency. Sources: Literature\nMode of inheritance for gene: GNAI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GNAI2 were set to 31036916; 40926810; 39298586\nPhenotypes for gene: GNAI2 were set to Syndromic disease MONDO:0002254, GNAI2-related\nReview for gene: GNAI2 was set to GREEN\nAdded comment: PMID: 40926810 | 20 individuals from 18 families with a multisystem syndrome termed MAGIS (“Midline malformations of the brain, Anterior pituitary gland dysfunction, Growth retardation, Immunodysregulation/immunodeficiency, and Skeletal defects”) caused by heterozygous germline activating mutations. Considerable phenotypic heterogeneity with inter- and intra-familial variability. Majority of variants occur at recurrent residues Thr182 (Thr182Ala/Ile/Pro in six families) and Arg179 (Arg179His/Cys in seven patients from five families). The patients’ mutations were clustered in the P-loop and switch regions of the Ras-like domain of Gα, which is critical for guanine-nucleotide binding and GTPase activity. See PMID: 39298586 supplementary data for patient details of the above cohort. Other common features in the cohort also include intellectual disability (9/17), neurodevelopmental delay (13/19), motor delay (13/19), deafness (11/15), cryptochordism (7/14). \nSources: Literature",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:43:27.404216+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAI2 as ready",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:43:27.397019+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnai2 has been classified as Green List (High Evidence).",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:43:25.052839+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNAI2 as Green List (high evidence)",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:43:25.044707+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnai2 has been classified as Green List (High Evidence).",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:43:03.360563+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNAI2 were changed from Syndromic intellectual disability to Syndromic disease MONDO:0002254, GNAI2-related",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:42:38.669056+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNAI2 were set to 31036916",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:42:04.363913+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNAI2 as Green List (high evidence)",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:42:04.352765+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnai2 has been classified as Green List (High Evidence).",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:41:35.013653+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNAI2 were changed from Pituitary adenoma, ACTH-secreting, somatic; Ventricular tachycardia, idiopathic\t192605; Syndromic developmental disorder to Syndromic disease MONDO:0002254, GNAI2-related",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:41:04.210895+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNAI2 were set to PMID: 31036916",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:40:43.023772+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNAI2 as Green List (high evidence)",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:40:43.014680+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnai2 has been classified as Green List (High Evidence).",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:39:51.085934+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRPC5 were set to 36323681; 24817631; 23033978; 33504798; 28191890",
"entity_name": "TRPC5",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:39:05.769249+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRPC5 were set to PMID: 36323681; 24817631; 23033978; 33504798; 28191890",
"entity_name": "TRPC5",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:36:55.686422+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BMPR1A were changed from Polyposis, juvenile intestinal, MIM# 174900 to BMPR1A-related juvenile polyposis syndrome MONDO:0700348",
"entity_name": "BMPR1A",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:35:56.298184+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDK5 were set to 25560765",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:35:31.189899+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDK5 as Green List (high evidence)",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:35:31.179757+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk5 has been classified as Green List (High Evidence).",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:35:05.087782+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CDK5: Added comment: PMID: 40186457 (2025) - Homozygous missense variant c.149G>A (p.Arg50Gln) in an infant with diffuse agyria, cerebellar hypoplasia, agenesis of the corpus callosum, refractory seizures, pyramidal signs, microcephaly, and growth failure. The disease course and severity were similar to those observed in the patients in the first report. Functional studies support deleterious effect of the variant.\r\n\r\nAlso note multiple animal models.; Changed rating: GREEN; Changed publications: 25560765, 40186457, 32273484, 32097629, 28854363, 7490100",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:34:11.878502+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDK5 were set to 25560765; 32273484; 32097629; 28854363; 7490100",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:34:00.480758+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDK5 as Green List (high evidence)",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:34:00.469820+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk5 has been classified as Green List (High Evidence).",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:33:45.278723+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CDK5: Added comment: PMID: 40186457 (2025) - Homozygous missense variant c.149G>A (p.Arg50Gln) in an infant with diffuse agyria, cerebellar hypoplasia, agenesis of the corpus callosum, refractory seizures, pyramidal signs, microcephaly, and growth failure. The disease course and severity were similar to those observed in the patients in the first report. Functional studies support deleterious effect of the variant.; Changed rating: GREEN; Changed publications: 25560765, 32273484, 32097629, 28854363, 7490100, 40186457",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:33:18.530689+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDK5 were set to 25560765",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:32:50.615697+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDK5 as Green List (high evidence)",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:32:50.605311+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk5 has been classified as Green List (High Evidence).",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:32:26.310740+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDK5: Rating: GREEN; Mode of pathogenicity: None; Publications: 40186457; Phenotypes: Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:31:41.844768+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDK5 were set to 25560765; 32273484; 32097629; 28854363; 7490100",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:31:16.224585+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDK5 as Green List (high evidence)",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:31:16.212796+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk5 has been classified as Green List (High Evidence).",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:30:51.801253+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CDK5: Added comment: PMID: 40186457 (2025) - Homozygous missense variant c.149G>A (p.Arg50Gln) in an infant with diffuse agyria, cerebellar hypoplasia, agenesis of the corpus callosum, refractory seizures, pyramidal signs, microcephaly, and growth failure. The disease course and severity were similar to those observed in the patients in the first report. Functional studies support deleterious effect of the variant.; Changed rating: GREEN; Changed publications: 25560765, 32273484, 32097629, 28854363, 7490100, 40186457",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:30:25.281119+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDK5 were set to 25560765; 32273484; 32097629; 28854363; 7490100",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:30:02.253012+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDK5 as Green List (high evidence)",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:30:02.242276+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk5 has been classified as Green List (High Evidence).",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:29:37.037649+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CDK5: Added comment: PMID: 40186457 (2025) - Homozygous missense variant c.149G>A (p.Arg50Gln) in an infant with diffuse agyria, cerebellar hypoplasia, agenesis of the corpus callosum, refractory seizures, pyramidal signs, microcephaly, and growth failure. The disease course and severity were similar to those observed in the patients in the first report. Functional studies support deleterious effect of the variant.; Changed rating: GREEN; Changed publications: 25560765, 32273484, 32097629, 28854363, 7490100, 40186457",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:28:55.454300+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDK5 were set to 25560765; 32273484; 32097629; 28854363; 7490100",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:28:38.527235+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDK5 as Green List (high evidence)",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:28:38.516902+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk5 has been classified as Green List (High Evidence).",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:27:19.265131+10:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RS1 were set to 20301401, 25999676",
"entity_name": "RS1",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:27:10.987897+10:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RS1 as Green List (high evidence)",
"entity_name": "RS1",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:27:10.980612+10:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rs1 has been classified as Green List (High Evidence).",
"entity_name": "RS1",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:26:18.786802+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PACSIN3 were changed from Myopathy, MONDO:0005336, PACSIN3-related to Congenital myopathy 27, MIM# 621343",
"entity_name": "PACSIN3",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:26:02.933936+10:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PACSIN3: Changed phenotypes: Congenital myopathy 27, MIM# 621343",
"entity_name": "PACSIN3",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:25:51.991415+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PACSIN3 were changed from Myopathy, MONDO:0005336, PACSIN3-related to Congenital myopathy 27, MIM# 621343",
"entity_name": "PACSIN3",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:25:19.574351+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PACSIN3: Changed phenotypes: Congenital myopathy 27, MIM# 621343",
"entity_name": "PACSIN3",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:25:06.149374+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PACSIN3 were changed from Myopathy, MONDO:0005336, PACSIN3-related to Congenital myopathy 27, MIM# 621343",
"entity_name": "PACSIN3",
"entity_type": "gene"
},
{
"created": "2025-09-25T12:24:44.784019+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PACSIN3: Changed phenotypes: Congenital myopathy 27, MIM# 621343",
"entity_name": "PACSIN3",
"entity_type": "gene"
},
{
"created": "2025-09-24T14:15:12.554870+10:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.81",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: GNAI2 was added\ngene: GNAI2 was added to Growth failure. Sources: Literature\nMode of inheritance for gene: GNAI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GNAI2 were set to 40926810; 39298586\nPhenotypes for gene: GNAI2 were set to Syndromic disease MONDO:0002254, GNAI2-related\nReview for gene: GNAI2 was set to GREEN\nAdded comment: PMID: 40926810 | 20 individuals from 18 families with a multisystem syndrome termed MAGIS (“Midline malformations of the brain, Anterior pituitary gland dysfunction, Growth retardation, Immunodysregulation/immunodeficiency, and Skeletal defects”) caused by heterozygous germline activating mutations. Considerable phenotypic heterogeneity with inter- and intra-familial variability.\r\n\r\nMajority of variants occur at recurrent residues Thr182 (Thr182Ala/Ile/Pro in six families) and Arg179 (Arg179His/Cys in seven patients from five families). The patients’ mutations were clustered in the P-loop and switch regions of the Ras-like domain of Gα, which is critical for guanine-nucleotide binding and GTPase activity.\r\n\r\nSee PMID: 39298586 supplementary data for patient details of the above cohort. Other common features in the cohort also include intellectual disability (9/17), neurodevelopmental delay (13/19), motor delay (13/19), deafness (11/15), cryptochordism (7/14). \nSources: Literature",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2025-09-24T14:13:16.955939+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.304",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: GNAI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 40926810, 39298586; Phenotypes: Syndromic disease MONDO:0002254, GNAI2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2025-09-24T14:11:54.617846+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3143",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: GNAI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 40926810, 39298586; Phenotypes: Syndromic disease MONDO:0002254, GNAI2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2025-09-24T13:52:04.552122+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.304",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: TRPC5: Rating: AMBER; Mode of pathogenicity: None; Publications: 40907672; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, TRPC5-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRPC5",
"entity_type": "gene"
},
{
"created": "2025-09-24T13:51:54.012576+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3143",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: TRPC5: Rating: AMBER; Mode of pathogenicity: None; Publications: 40907672; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, TRPC5-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRPC5",
"entity_type": "gene"
},
{
"created": "2025-09-24T10:36:13.464785+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3143",
"user_name": "Leah Frajman",
"item_type": "entity",
"text": "reviewed gene: BMPR1A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: BMPR1A-related juvenile polyposis syndrome MONDO:0700348; Mode of inheritance: None",
"entity_name": "BMPR1A",
"entity_type": "gene"
},
{
"created": "2025-09-24T09:30:25.362661+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3143",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: PRKCI: Changed rating: GREEN",
"entity_name": "PRKCI",
"entity_type": "gene"
},
{
"created": "2025-09-24T09:30:14.214718+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3143",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Multiple reported variants in affected individuals mainly presenting with lower lip pits and orofacial clefts (OFCs). Some individuals presented with a more severe phenotype inclusing seizures, ID/DD and urogenital anomalies. Supportive zebrafish model supporting a loss-of-function mechanism was performed on three recurrent variants [c.389G>A (p.Arg130His), c.1148A>G (p.Asn383Ser), and c.1155A>C (p.Leu385Phe)] however there is not enough evidence to show that LoF is the mechanism of disease.\r\n\r\nThe gene is not constrained for LoF in gnomAD and there are no pathogenic SNVs reported in ClinVar at this present time. Amber until further evidence is published in support of this gene-disease association. \nSources: Literature; to: Multiple reported variants in affected individuals mainly presenting with lower lip pits and orofacial clefts (OFCs). Some individuals presented with a more severe phenotype inclusing seizures, ID/DD and urogenital anomalies. Supportive zebrafish model supporting a loss-of-function mechanism was performed on three recurrent variants [c.389G>A (p.Arg130His), c.1148A>G (p.Asn383Ser), and c.1155A>C (p.Leu385Phe)] however there is not enough evidence to show that LoF is the mechanism of disease.\r\n\r\nSources: Literature",
"entity_name": "PRKCI",
"entity_type": "gene"
},
{
"created": "2025-09-24T09:29:49.482419+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.272",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: PRKCI: Changed rating: GREEN",
"entity_name": "PRKCI",
"entity_type": "gene"
},
{
"created": "2025-09-24T09:29:28.184428+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.272",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Multiple reported variants in affected individuals mainly presenting with lower lip pits and orofacial clefts (OFCs). Some individuals presented with a more severe phenotype inclusing seizures, ID/DD and urogenital anomalies. Supportive zebrafish model supporting a loss-of-function mechanism was performed on three recurrent variants [c.389G>A (p.Arg130His), c.1148A>G (p.Asn383Ser), and c.1155A>C (p.Leu385Phe)] however there is not enough evidence to show that LoF is the mechanism of disease.\r\n\r\nThe gene is not constrained for LoF in gnomAD and there are no pathogenic SNVs reported in ClinVar at this present time. Amber until further evidence is published in support of this gene-disease association. \nSources: Literature; to: Multiple reported variants in affected individuals mainly presenting with lower lip pits and orofacial clefts (OFCs). Some individuals presented with a more severe phenotype inclusing seizures, ID/DD and urogenital anomalies. Supportive zebrafish model supporting a loss-of-function mechanism was performed on three recurrent variants [c.389G>A (p.Arg130His), c.1148A>G (p.Asn383Ser), and c.1155A>C (p.Leu385Phe)] however there is not enough evidence to show that LoF is the mechanism of disease.\r\n\r\nSources: Literature",
"entity_name": "PRKCI",
"entity_type": "gene"
},
{
"created": "2025-09-24T02:17:20.803877+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3143",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: CDK5: Rating: GREEN; Mode of pathogenicity: None; Publications: 40186457; Phenotypes: Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2025-09-23T15:00:26.266534+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANLN were set to 24676636; 30002222",
"entity_name": "ANLN",
"entity_type": "gene"
},
{
"created": "2025-09-23T15:00:07.044841+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ANLN: Added comment: Further reports but evidence is conflicting, including variants with implausibly high pop frequency.\r\n\r\nGbadegesin et al (2014); Hall et al (2018) 2 x families reported with FSGS (USA) and missense variants G618C (v4: absent) and R431C (v4: 63 hets, 0 hom). R431C was identified in 6 affected family members and absent in 6 unaffected family members. G618C was present in the proband and absent in 4 unaffected family members, the other 2 affected individuals from this family were not genotyped (deceased). Missense demostrated as LoF with both in vitro and in vivo (zebrafish). R431C was shown to disrupt interaction with CD2AP (primarily LoF effect), causing downstream hyperactivation of the PI3K/AKT/mTOR/Rac1 signaling pathway, which drives podocytes hypermotility.\r\n\r\nGeminiganesan et al (2021) 1 x 2 year old child (India) with early-onset steroid resistant nephrotic syndrome, whole-exome sequencing and genome-wide linkage studies, a missense variant in ANLN was identified p.Thr821Met (v4: 508 hets, 0 hom).\r\n\r\nZhang et al (2023) 3 x children with steroid resistant nephrotic syndrome (China). 2 x missense (p.M1099I - LP (v4:1 het, 0 hom), p.S140T - VUS (v4: 6 hets, 0 hom) and 1 x stop gain reported p.R39X - LP ( v4: 1 het, 0 hom).\r\n\r\nLin et al (2023) 3 x unrelated individuals with missense E841K (China, v4: 618 hets, 2 hom). In famly A the variant was de novo, in family 2 only the proband as tested, in family 3 the variant was inherited from an affected father. 4 x unaffected individuals did not have the variant. Knockout mouse model inconclusive, did not show any effect until 36 weeks. Zebrafish model was also inconclusive.; Changed publications: 24676636, 30002222, 34819827, 38322629, 37957688",
"entity_name": "ANLN",
"entity_type": "gene"
}
]
}