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{
"count": 220828,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1005",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1003",
"results": [
{
"created": "2022-02-08T10:12:50.394304+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOTCH3 were changed from Pulmonary arterial hypertension to Pulmonary arterial hypertension, MONDO:0015924",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2022-02-08T10:12:15.340632+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NOTCH3 were set to 19855400; 31868216; 24936512",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2022-02-08T10:11:59.499323+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NOTCH3 as Red List (low evidence)",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2022-02-08T10:11:59.487466+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch3 has been classified as Red List (Low Evidence).",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2022-02-07T17:04:24.140948+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3151",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: SF3B2 was added\ngene: SF3B2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: SF3B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SF3B2 were set to 34344887\nPhenotypes for gene: SF3B2 were set to Craniofacial microsomia\nReview for gene: SF3B2 was set to GREEN\nAdded comment: No new relevant published evidence since PanelApp review Aug 2021\r\n\r\n--\r\n\r\nTwenty individuals from seven families reported with de novo or transmitted haploinsufficient variants in SF3B2. Affected individuals had mandibular hypoplasia, microtia, facial and preauricular tags, epibulbar dermoids, lateral oral clefts in addition to skeletal and cardiac abnormalities.\r\n\r\nTargeted morpholino knockdown of SF3B2 in Xenopus resulted in disruption of cranial neural crest precursor formation and subsequent craniofacial cartilage defects, supporting a link between spliceosome mutations and impaired neural crest development in congenital craniofacial disease.\r\n\r\nThe families were ascertained from a cohort and the authors suggest that haploinsufficient variants in SF3B2 are the most prevalent genetic cause of CFM, explaining ~3% of sporadic and ~25% of familial cases. \nSources: Literature",
"entity_name": "SF3B2",
"entity_type": "gene"
},
{
"created": "2022-02-07T17:02:16.115485+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.63",
"user_name": "Nicola Poplawski",
"item_type": "entity",
"text": "reviewed gene: PTEN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2022-02-07T17:00:44.727626+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3151",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: SEPT9 was added\ngene: SEPT9 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: SEPT9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SEPT9 were set to 16186812; 19451530; 19939853; 19139049; 18492087\nPhenotypes for gene: SEPT9 were set to Amyotrophy, hereditary neuralgic, MIM# 162100\nReview for gene: SEPT9 was set to AMBER\nAdded comment: No new relevant published evidence since last PanelApp review May 2021\r\n\r\n--\r\n\r\nOnly one report identified from 2008 of dysmorphic features including cleft palate co-occurring with HNA.\r\n\r\nNew gene name is SEPTIN9, also note founder variants as well as 5'UTR variants and intragenic duplications reported. \nSources: Literature",
"entity_name": "SEPT9",
"entity_type": "gene"
},
{
"created": "2022-02-07T16:49:03.965296+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3151",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: PLCH1 was added\ngene: PLCH1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: PLCH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLCH1 were set to 33820834\nPhenotypes for gene: PLCH1 were set to Holoprosencephaly spectrum; Severe developmental delay; Brain malformations\nReview for gene: PLCH1 was set to AMBER\nAdded comment: No new published evidence since last PanelApp review April 2021\r\n\r\n--\r\nPMID: 33820834 (2021) - Two sibling pairs from two unrelated families with a holoprosencephaly spectrum phenotype and different homozygous PLCH1 variants (c.2065C>T, p.Arg689* and c.4235delA, p.Cys1079ValfsTer16, respectively). One family presented with congenital hydrocephalus, epilepsy, significant developmental delay and a monoventricle or fused thalami; while sibs from the second family had alobar holoprosencephaly and cyclopia. 3/4 individuals also displayed a cleft palate and congenital heart disease. Human embryo immunohistochemistry showed PLCH1 to be expressed in the notorcord, developing spinal cord (in a ventral to dorsal gradient), dorsal root ganglia, cerebellum and dermatomyosome. \nSources: Literature",
"entity_name": "PLCH1",
"entity_type": "gene"
},
{
"created": "2022-02-07T16:46:20.591904+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3151",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: PLEKHA5 was added\ngene: PLEKHA5 was added to Fetal anomalies. Sources: Literature,Expert list\nMode of inheritance for gene: PLEKHA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PLEKHA5 were set to 29805042\nPhenotypes for gene: PLEKHA5 were set to cleft lip; cleft palate\nReview for gene: PLEKHA5 was set to AMBER\nAdded comment: No new published evidence since last PanelApp review April 2020\r\n\r\n---\r\nOne de novo variant reported, another 5 '3C' rare variants reported in 6 families in this cohort; unclear if monogenic or polygenic contribution to CL/P. \nSources: Literature, Expert list",
"entity_name": "PLEKHA5",
"entity_type": "gene"
},
{
"created": "2022-02-07T16:42:03.117354+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3151",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: PLEKHA7 was added\ngene: PLEKHA7 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: PLEKHA7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PLEKHA7 were set to 29805042\nPhenotypes for gene: PLEKHA7 were set to Cleft palate\nReview for gene: PLEKHA7 was set to AMBER\nAdded comment: No new evidence since last PanelApp review in Jan 2021\r\n\r\n-- \r\n\r\nSix rare variants identified in 4 individuals in a CL/P cohort, however, only one of these classified as likely pathogenic. One individual had bi-allelic variants. Some supportive functional data \nSources: Literature",
"entity_name": "PLEKHA7",
"entity_type": "gene"
},
{
"created": "2022-02-07T16:39:04.812069+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3151",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: PPP1R13L was added\ngene: PPP1R13L was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPP1R13L were set to 32666529; 28864777\nPhenotypes for gene: PPP1R13L were set to Dilated cardiomyopathy, onset in infancy; Cleft lip and palate\nReview for gene: PPP1R13L was set to GREEN\nAdded comment: No new information since last PanelApp review June 2021\r\n\r\n--\r\n\r\nAt least 6 unrelated families. NMD-predicted, missense and stop-loss (extension) variants have been reported in individuals with autosomal recessive PPP1R13L-related syndrome. Patients described with biallelic pathogenic variants in PPP1R13L all had severe infantile-onset dilated cardiomyopathy, with additional features including cleft lip and palate, wedge-shaped teeth, and sparse, dry, woolly hair described in several individuals. Death due to HF progression before 5yo reported in cases that didn't receive a heart transplant. Cognitive delay also reported in two unrelated individuals (PMID: 28069640, PMID: 32666529). \nSources: Literature",
"entity_name": "PPP1R13L",
"entity_type": "gene"
},
{
"created": "2022-02-07T16:33:31.375251+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3151",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: METTL23 was added\ngene: METTL23 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: METTL23 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: METTL23 were set to 32878022; 32439618; 32067349; 24626631; 24501276\nPhenotypes for gene: METTL23 were set to Mental retardation, autosomal recessive 44 - #615942\nReview for gene: METTL23 was set to RED\nAdded comment: Biallelic variants associated with syndromic ID. Published studies provide no or limited antenatal information with no consistent prenatal phenotype described. \r\n\r\n--\r\nPMID: 32878022 – Khan et al 2020 - homozygous missense variants identified in consanguineous Pakistani family with 3 affected siblings having ID, epilepsy, behavioural issues, hypotonia and dysmorphic features (prominent large-size eyes, eyebrows, ears, short upturned nose with flat nasal bridge, and thin upper lip). Authors report that prenatal, perinatal and neonatal medical records of all patients were normal. \r\n\r\nPMID 32439618 – Smaili et al 2020 report two Moroccan siblings presenting with mild intellectual disability and dysmorphic features. WES identified homozygous METTL23 gene variants. Describe uneventful pregnancies and postnatal course. Macrocephaly reported in both siblings (HC 52cm in a 7 year old M and 50cm in 6 yo F) - no information regarding HC of parents provided, macrocephaly not a consistently reported feature of this condition.\r\n\r\nPMID: 32067349 – Almannai et al 2020 - 6 individuals from 4 families - 2 families unrelated, 2 families come from same Saudi tribe and are therefore likely to be distantly related with same homozygous METTL23 variant identified in both. No prenatal features or immediate postnatal issues described related to this condtion. One subject reported to have an MRI-B showing mild ventriculomegaly at a later age which may reflect mild white matter volume loss. This subject also had a 618 Kilobases duplication at 7p11.2 (57,261,112-57,878,853) identified on CGH array. \r\n\r\nPMID: 24626631 – Bernkopf 2014 - describe 2 unrelated families. Provide no antenatal information or report no issues antenatally/at birth apart from one baby being large and cyanosed postnatally\r\n\r\nPMID: 24501276 – Reiff et al 2014 - report 7 affected members of a large, consanguineous Arab family with ID and mild dysmorphic features. X1 patient had cleft uvula and submucosal cleft palate. \nSources: Literature",
"entity_name": "METTL23",
"entity_type": "gene"
},
{
"created": "2022-02-07T15:40:30.170674+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3151",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: LRRC32 was added\ngene: LRRC32 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: LRRC32 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRRC32 were set to 30976112\nPhenotypes for gene: LRRC32 were set to Cleft palate, proliferative retinopathy, and developmental delay - MIM#619074\nReview for gene: LRRC32 was set to AMBER\nAdded comment: Gene previously reviewed for PanelApp Feb 2021 - no new relevant publications since\r\n\r\n--\r\n\r\nThree individuals from two consanguineous families with cleft palate, proliferative retinopathy, and developmental delay had the same homozygous biallelic variant, c.1630C>T; p.(Arg544Ter), segregated and shared haplotype indicative of founder effect. Mouse model has cleft palate and neonatal death. \nSources: Literature",
"entity_name": "LRRC32",
"entity_type": "gene"
},
{
"created": "2022-02-07T15:26:47.893909+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3151",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: SCN8A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 13, MIM#614558, dominant and recessive, Myoclonus, familial, 2, MIM# 618364, paroxysmal kinesigenic dyskinesias, Cognitive impairment with or without cerebellar ataxia, MIM# 614306; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2022-02-07T15:25:20.113426+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3151",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: RFWD3: Rating: RED; Mode of pathogenicity: None; Publications: 28691929; Phenotypes: Fanconi anemia, complementation group W, MIM# 617784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RFWD3",
"entity_type": "gene"
},
{
"created": "2022-02-07T15:17:16.900659+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3151",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: RAB39B: Rating: RED; Mode of pathogenicity: None; Publications: 34761259, 20159109, 25434005, 27066548, 26399558, 27943471, 28851564, 28851564, 29152164, 33880059, 27448726, 32670181; Phenotypes: Intellectual developmental disorder, X-linked 72 MIM#300271, Waisman syndrome MIM#311510; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "RAB39B",
"entity_type": "gene"
},
{
"created": "2022-02-07T15:15:56.481032+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10923",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: RAB39B: Rating: GREEN; Mode of pathogenicity: None; Publications: 34761259, 20159109, 25434005, 27066548, 26399558, 27943471, 28851564, 28851564, 29152164, 33880059, 27448726, 32670181; Phenotypes: Intellectual developmental disorder, X-linked 72 MIM#300271, Waisman syndrome MIM#311510; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "RAB39B",
"entity_type": "gene"
},
{
"created": "2022-02-07T15:01:44.366479+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3151",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: LRP6 was added\ngene: LRP6 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: LRP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LRP6 were set to 16126904; 30950205; 26387593; 26963285; 28813618; 29500247; 33164649; 34306029\nPhenotypes for gene: LRP6 were set to Tooth agenesis, selective, 7 - MIM#616724; cleft lip/palate\nReview for gene: LRP6 was set to AMBER\nAdded comment: LoF variants known to be associated with tooth agenesis. In addition, x2 unrelated families from 2 different studies with heterozygous LRP6 variant had tooth agenesis and cleft lip/palate (PMID 29500247; 26963285). Growth failure reported in some individuals but unclear if prenatal in onset (PMID 26963285). Minor finger/ear anomalies reported in x2 patients (PMID 26387593; 30950205)- unlikely to be detected antenatally and one of the reported patients (30950205) had x2 chromosome deletions, one of which involved LRP6 and multiple other genes.\r\n\r\n---\r\n\r\nPMID: 34306029 Huang et al 2021 - Heterozygous LRP6: c.2570G > A (p.R857H), harbored by six members of a Chinese family, including 4 with tooth agenesis. Sparse hair another phenotypic feature.\r\n\r\nPMID: 33164649 Yu et al 2021 - identified 4 novel LRP6 heterozygous mutations in 4 of 77 oligodontia patients. One patient with a nonsense paternally inherited variant had a hypohidrotic ectodermal dysplasia phenotype - no antenatal features, father had oligodontia. Supportive functional evidence\r\n\r\nPMID: 29500247 Basha et al 2018 - Nonsense LRP6 variant identified in a family with cleft lip/palate. Proband had bilateral cleft lip and palate with missing upper lateral incisors, mother had bilateral cleft lip. x1 unaffected brother but family members not reassessed for oligodontia after variant identified.\r\n\r\nPMID: 28813618 Dinckan et al 2018 - heterozygous splice site LRP6 variant identified in 1 family with isolated tooth agenesis. Affected family members also had mild periocular hyperpigmentation and hypoplastic alae nasi - thought to be unrelated to phenotype\r\n\r\nPMID: 26963285 Ockeloen et al 2016 - frameshift variant identified in patient with tooth agenesis and orofacial clefting - boy born with bilateral cleft lip, L) sided cleft of the alveolus and complete cleft of the hard and soft palate. Also noted to have growth retardation, hypermetropia and small median alveolar manibular cleft. Maternal relatives with variant had severe tooth agenesis but no clefting. Canonical splice site variant identified in a patient with isolated severe tooth agenesis. Targeted resequencing showed statistically significant enrichment of unique LRP6 variants in tooth agenesis patients (7/67 versus 13/706 controls), not orofacial clefting cohort. 4/7 of these patients required growth hormone therapy and 3/7 had clinodactyly in addition to dental anomalies.\r\n\r\nPMID: 26387593 – Massink et al 2015 - x4 LoF heterozygous LRP6 variants identified in 4 unrelated families with isolated severe tooth agenesis. All affected members of one family showed minor anatomical variation of the ear and underdevelopment of the thumb \r\n\r\nPMID: 30950205 Ross et al 2019 - Proband with oligodontia and thrombocytopenia, also had mild finger and ear anomalies. Array revealed an interstitial loss of 150 kb in 8p23.1 encompassing MCPH1 and ANGPT2 and an interstitial loss of 290 kb in 12p13.2 encompassing ETV6, BCL2L14 and LRP6. \nSources: Literature",
"entity_name": "LRP6",
"entity_type": "gene"
},
{
"created": "2022-02-07T14:35:49.774182+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3151",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PTCHD1: Rating: RED; Mode of pathogenicity: None; Publications: 33856728, 25131214; Phenotypes: intellectual disability MIM#300830; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "PTCHD1",
"entity_type": "gene"
},
{
"created": "2022-02-07T14:34:56.378370+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10923",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PTCHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33856728, 25131214; Phenotypes: intellectual disability MIM#300830; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "PTCHD1",
"entity_type": "gene"
},
{
"created": "2022-02-07T14:11:39.391662+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3151",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PSMB8: Rating: RED; Mode of pathogenicity: None; Publications: 21129723, 21881205, 21852578, 21953331; Phenotypes: Proteasome-associated autoinflammatory syndrome 1, MIM# 256040, MONDO:0054698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PSMB8",
"entity_type": "gene"
},
{
"created": "2022-02-07T13:00:31.131354+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4495",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PRSS12: Rating: RED; Mode of pathogenicity: None; Publications: 12459588, 22090715, 23344636; Phenotypes: Intellectual disability, PRSS12 related MIM#249500; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "PRSS12",
"entity_type": "gene"
},
{
"created": "2022-02-07T12:55:54.658832+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10923",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PRSS12: Rating: RED; Mode of pathogenicity: None; Publications: 12459588, 22090715, 23344636; Phenotypes: Intellectual disability, PRSS12 related MIM#249500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PRSS12",
"entity_type": "gene"
},
{
"created": "2022-02-07T12:55:52.704637+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3151",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PRSS12: Rating: RED; Mode of pathogenicity: None; Publications: 12459588, 22090715, 23344636; Phenotypes: Intellectual disability, PRSS12 related MIM#249500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PRSS12",
"entity_type": "gene"
},
{
"created": "2022-02-07T12:36:40.520567+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3151",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PRPS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32781272, 24961627; Phenotypes: Arts syndrome MIM#301835; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2022-02-07T11:57:27.784396+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10923",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "changed review comment from: PMID: 29432562:\r\n- Overexpression studies using yeast showed missense variants in the autoinhibitory domain resulted in gain of function, missense variants in the catalytic domain resulted in loss of function (however dom-neg has not been ruled out).\r\n- Loss-of-function and gain-of-function mutations of PPP3CA lead to early onset epileptic encephalopathy and multiple congenital abnormalities, respectively.\r\n\r\nPMID: 32593294:\r\n- Reported a patient with PTV in the C-term predicted to escape NMD, clinical features consistent with MIM#617711. \r\n- Summarised that missense variants in catalytic domain and those upstream of autoinhibitory domain, PTVs in C-term predicted to escape NMD: LoF, MIM#617711. Missense in autoinhibitory domain: GoF, MIM#618265.; to: PMID: 29432562:\r\n- Overexpression studies using yeast showed missense variants in the autoinhibitory domain resulted in gain of function, missense variants in the catalytic domain resulted in loss of function (however dom-neg has not been ruled out).\r\n- Loss-of-function and gain-of-function mutations of PPP3CA lead to early onset epileptic encephalopathy and multiple congenital abnormalities, respectively.\r\n\r\nPMID: 32593294:\r\n- Reported a patient with PTV in the C-term predicted to escape NMD, clinical features consistent with MIM#617711. \r\n- 15 variants have been reported. Summarised that missense variants in catalytic domain and those upstream of autoinhibitory domain, PTVs in C-term predicted to escape NMD: LoF, MIM#617711; missense in autoinhibitory domain: GoF, MIM#618265.",
"entity_name": "PPP3CA",
"entity_type": "gene"
},
{
"created": "2022-02-07T11:54:28.967242+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10923",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: PPP3CA: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 29432562, 32593294; Phenotypes: Developmental and epileptic encephalopathy 91, MIM#617711, Arthrogryposis, cleft palate, craniosynostosis and impaired intellectual development, MIM#618265; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "PPP3CA",
"entity_type": "gene"
},
{
"created": "2022-02-07T11:44:01.313233+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3151",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PPT1: Rating: RED; Mode of pathogenicity: None; Publications: 7637805, 9425237, 9664077; Phenotypes: Ceroid lipofuscinosis, neuronal, 1, MIM# 256730, MONDO:0009744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2022-02-07T11:40:33.343084+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3151",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PPA2: Rating: RED; Mode of pathogenicity: None; Publications: 27523598, 34400813; Phenotypes: Sudden cardiac failure, alcohol-induced, 617223, Sudden cardiac failure, infantile, 617222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PPA2",
"entity_type": "gene"
},
{
"created": "2022-02-07T11:35:10.173160+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3151",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PLP1: Rating: RED; Mode of pathogenicity: None; Publications: 20301361; Phenotypes: Pelizaeus-Merzbacher disease MIM#312080, Spastic paraplegia 2, X-linked MIM#312920; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2022-02-07T11:35:05.730430+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10923",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301361; Phenotypes: Pelizaeus-Merzbacher disease MIM#312080, Spastic paraplegia 2, X-linked MIM#312920; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2022-02-07T11:04:39.092904+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10923",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: LDB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26419279, 16427346, 14660611, 14662268, 27546599, 25911362; Phenotypes: Cardiomyopathy, dilated, 1C, with or without LVNC MIM#601493, Cardiomyopathy, hypertrophic, 24 MIM#601493, Left ventricular noncompaction 3 MIM#601493, Myopathy, myofibrillar, 4 MIM#609452; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "LDB3",
"entity_type": "gene"
},
{
"created": "2022-02-07T11:04:06.861605+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3151",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: LDB3: Rating: RED; Mode of pathogenicity: None; Publications: 26419279, 16427346, 14660611, 14662268, 27546599, 25911362; Phenotypes: Cardiomyopathy, dilated, 1C, with or without LVNC MIM#601493, Cardiomyopathy, hypertrophic, 24 MIM#601493, Left ventricular noncompaction 3 MIM#601493, Myopathy, myofibrillar, 4 MIM#609452; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "LDB3",
"entity_type": "gene"
},
{
"created": "2022-02-07T10:37:53.134673+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3151",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: IL17RD: Rating: RED; Mode of pathogenicity: None; Publications: 23643382, 32389901; Phenotypes: Hypogonadotropic hypogonadism 18 with or without anosmia, MIM# 615267; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "IL17RD",
"entity_type": "gene"
},
{
"created": "2022-02-07T10:32:57.118920+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3151",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: IGSF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26840047; Phenotypes: Hypothyroidism, central, and testicular enlargement MIM#300888; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes",
"entity_name": "IGSF1",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:59:36.930061+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.7",
"user_name": "Nicola Poplawski",
"item_type": "entity",
"text": "reviewed gene: NOTCH3: Rating: RED; Mode of pathogenicity: None; Publications: PMID:33712516, 24936512; Phenotypes: 125310; Mode of inheritance: None",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:11:16.999138+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KAT5 as ready",
"entity_name": "KAT5",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:11:16.986429+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kat5 has been classified as Green List (High Evidence).",
"entity_name": "KAT5",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:11:11.763615+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KAT5 as Green List (high evidence)",
"entity_name": "KAT5",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:11:11.751529+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kat5 has been classified as Green List (High Evidence).",
"entity_name": "KAT5",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:10:42.643996+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INTS1 as ready",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:10:42.631831+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ints1 has been classified as Green List (High Evidence).",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:10:35.898208+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: INTS1 as Green List (high evidence)",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:10:35.888187+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ints1 has been classified as Green List (High Evidence).",
"entity_name": "INTS1",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:09:39.131762+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL25A1 as ready",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:09:39.119183+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col25a1 has been classified as Green List (High Evidence).",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:09:34.239562+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL25A1 as Green List (high evidence)",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:09:34.228419+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col25a1 has been classified as Green List (High Evidence).",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:09:23.929340+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL25A1 was added\ngene: COL25A1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: COL25A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COL25A1 were set to 35077597; 26437029\nPhenotypes for gene: COL25A1 were set to Arthrogryposis multiplex congenita MONDO:0015168\nReview for gene: COL25A1 was set to GREEN\nAdded comment: 6 cases from 4 unrelated families with AMC as a feature of the phenotype PMID: 35077597 - 5 patients from 3 unrelated families with biallelic missense and splice site COL25A1 variants presenting with arthrogryposis multiplex congenita with or without an ocular congenital cranial dysinnervation disorder phenotype PMID: 26437029 - Patient: 273182 in DECIPHER with compound het missense variants. Phenotype includes Congenital finger flexion contractures, Contracture of the distal interphalangeal joint of the 2nd finger, Duane anomaly \nSources: Literature",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:07:39.914639+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN2A as ready",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:07:39.901902+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn2a has been classified as Green List (High Evidence).",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:07:35.513955+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCN2A as Green List (high evidence)",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:07:35.504042+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn2a has been classified as Green List (High Evidence).",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:06:51.953884+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HYAL2 as ready",
"entity_name": "HYAL2",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:06:51.943152+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hyal2 has been classified as Green List (High Evidence).",
"entity_name": "HYAL2",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:06:46.297693+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HYAL2 as Green List (high evidence)",
"entity_name": "HYAL2",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:06:46.288250+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hyal2 has been classified as Green List (High Evidence).",
"entity_name": "HYAL2",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:05:59.967092+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HYAL2 were set to 28081210; 23172227; 26515055",
"entity_name": "HYAL2",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:05:35.855490+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HYAL2 as Green List (high evidence)",
"entity_name": "HYAL2",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:05:35.845054+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hyal2 has been classified as Green List (High Evidence).",
"entity_name": "HYAL2",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:05:10.138048+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HYAL2 as ready",
"entity_name": "HYAL2",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:05:10.125533+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hyal2 has been classified as Green List (High Evidence).",
"entity_name": "HYAL2",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:05:04.219474+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HYAL2 as Green List (high evidence)",
"entity_name": "HYAL2",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:05:04.201657+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hyal2 has been classified as Green List (High Evidence).",
"entity_name": "HYAL2",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:04:09.316443+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HYAL2 were set to 28081210; 23172227; 26515055",
"entity_name": "HYAL2",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:03:54.239725+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HYAL2 as Green List (high evidence)",
"entity_name": "HYAL2",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:03:54.230275+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hyal2 has been classified as Green List (High Evidence).",
"entity_name": "HYAL2",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:03:01.979387+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HOXA2 as ready",
"entity_name": "HOXA2",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:03:01.966240+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxa2 has been classified as Green List (High Evidence).",
"entity_name": "HOXA2",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:02:56.233113+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HOXA2 as Green List (high evidence)",
"entity_name": "HOXA2",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:02:56.222225+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxa2 has been classified as Green List (High Evidence).",
"entity_name": "HOXA2",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:02:01.619387+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAX5 as ready",
"entity_name": "PAX5",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:02:01.606855+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax5 has been classified as Green List (High Evidence).",
"entity_name": "PAX5",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:01:51.864570+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAX5 were changed from to Neurodevelopmental disorder MONDO:0700092, PAX5-related",
"entity_name": "PAX5",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:00:18.052503+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EEF1B2 as ready",
"entity_name": "EEF1B2",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:00:18.042757+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eef1b2 has been classified as Green List (High Evidence).",
"entity_name": "EEF1B2",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:00:12.908572+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EEF1B2 as Green List (high evidence)",
"entity_name": "EEF1B2",
"entity_type": "gene"
},
{
"created": "2022-02-04T18:00:12.895859+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eef1b2 has been classified as Green List (High Evidence).",
"entity_name": "EEF1B2",
"entity_type": "gene"
},
{
"created": "2022-02-04T17:59:35.598151+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EEF1B2 was added\ngene: EEF1B2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: EEF1B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EEF1B2 were set to 31845318; 21937992; 35015920\nPhenotypes for gene: EEF1B2 were set to Neurodevelopmental disorder MONDO:0700092; non-syndromic ID and seizures\nReview for gene: EEF1B2 was set to GREEN\nAdded comment: Now 7 individuals in 3 unrelated families with a phenotype of non-syndromic ID and fever-sensitive seizures. Knockout zebrafish model demonstrated abnormal development and a photosensitive seizure-like behavioural phenotype. \nSources: Literature",
"entity_name": "EEF1B2",
"entity_type": "gene"
},
{
"created": "2022-02-04T17:55:22.980894+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ESRP2 as ready",
"entity_name": "ESRP2",
"entity_type": "gene"
},
{
"created": "2022-02-04T17:55:22.968800+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: esrp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ESRP2",
"entity_type": "gene"
},
{
"created": "2022-02-04T17:55:10.084473+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ESRP2 as Amber List (moderate evidence)",
"entity_name": "ESRP2",
"entity_type": "gene"
},
{
"created": "2022-02-04T17:55:10.073745+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: esrp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ESRP2",
"entity_type": "gene"
},
{
"created": "2022-02-04T17:54:25.820236+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF3F as ready",
"entity_name": "EIF3F",
"entity_type": "gene"
},
{
"created": "2022-02-04T17:54:25.810759+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif3f has been classified as Green List (High Evidence).",
"entity_name": "EIF3F",
"entity_type": "gene"
},
{
"created": "2022-02-04T17:54:21.913700+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF3F were changed from ntellectual developmental disorder, autosomal recessive 67- MIM#618295 to Intellectual developmental disorder, autosomal recessive 67- MIM#618295",
"entity_name": "EIF3F",
"entity_type": "gene"
},
{
"created": "2022-02-04T17:54:04.728531+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EIF3F as Green List (high evidence)",
"entity_name": "EIF3F",
"entity_type": "gene"
},
{
"created": "2022-02-04T17:54:04.717398+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif3f has been classified as Green List (High Evidence).",
"entity_name": "EIF3F",
"entity_type": "gene"
},
{
"created": "2022-02-04T17:53:31.239225+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL9A3 as ready",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2022-02-04T17:53:31.229262+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col9a3 has been classified as Green List (High Evidence).",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2022-02-04T17:53:24.094167+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL9A3 as Green List (high evidence)",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2022-02-04T17:53:24.084768+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col9a3 has been classified as Green List (High Evidence).",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2022-02-04T17:44:07.871544+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FTO as ready",
"entity_name": "FTO",
"entity_type": "gene"
},
{
"created": "2022-02-04T17:44:07.861767+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fto has been classified as Amber List (Moderate Evidence).",
"entity_name": "FTO",
"entity_type": "gene"
},
{
"created": "2022-02-04T17:43:30.953296+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FTO as ready",
"entity_name": "FTO",
"entity_type": "gene"
},
{
"created": "2022-02-04T17:43:30.941045+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fto has been classified as Amber List (Moderate Evidence).",
"entity_name": "FTO",
"entity_type": "gene"
},
{
"created": "2022-02-04T17:43:18.311311+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FTO as Amber List (moderate evidence)",
"entity_name": "FTO",
"entity_type": "gene"
},
{
"created": "2022-02-04T17:43:18.301773+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fto has been classified as Amber List (Moderate Evidence).",
"entity_name": "FTO",
"entity_type": "gene"
},
{
"created": "2022-02-04T16:31:44.667758+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3140",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: KAT5 was added\ngene: KAT5 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: KAT5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KAT5 were set to 32822602\nPhenotypes for gene: KAT5 were set to Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities- MIM#619103\nReview for gene: KAT5 was set to GREEN\nAdded comment: PMID: 32822602 Humbert et al 2020 - single study reporting 3 individuals with syndromic ID and de novo heterozygous missense variants in KAT5, supportive functional data\r\n\r\nIndividual 1 – diagnosed as an adult, syndromic ID, brachydactyly, partial agenesis of the corpus callosum\r\n\r\nIndidual 2 – 13 yo M with ID and multiple malformations – born at 38 weeks with a unilateral CL/P, horshoe kidney, progressive cerebellar atrophy, dysgenesis of the corpus callosum\r\n\r\nIndividual 3 – presented with congenital microcephay, short stature, VSD, dysplastic pulmonary valve with supravalvular and valvular stenosis, submucous cleft, hypospadias, MRI B PMG R) sylvian fissure, cystic dilation of 4th ventricle and inferior cerebellar vermis atrophy \nSources: Literature",
"entity_name": "KAT5",
"entity_type": "gene"
},
{
"created": "2022-02-04T16:18:28.142598+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3140",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: INTS1 was added\ngene: INTS1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: INTS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INTS1 were set to 28542170; 30622326; 31428919\nPhenotypes for gene: INTS1 were set to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies - MIM#618571\nReview for gene: INTS1 was set to GREEN\nAdded comment: PMID: 28542170 Oegema et al 2017 - 3 unrelated individuals with syndromic ID of Dutch ancestry showed the same homozygous truncating INTS1 mutation - 1/3 Cleft palate/lip, 1/3 renal malformation\r\n\r\nPMID: 30622326 – Krall et al 2019 - 5 patients from 4 families with biallelic sequence variants in INTS1. The patients manifested absent or severely limited speech, an abnormal gait, hypotonia and cataracts. Other phenotypic features included:\r\no\tMicropthalmia – 2/5\r\no\tFrontal bossing 2/5\r\no\tHypertelorism – 5/5\r\no\tMicroretrognathia – 4/5\r\no\tRenal malformation 2/5\r\n\r\n\r\nPMID: 31428919 – Zhang et al 2020 - 2 Chinese siblings with ID found to have INTST1 compound het variants, both had cataracts, facial dysmorphism, short stature, severe ID and anomalous genitalia \nSources: Literature",
"entity_name": "INTS1",
"entity_type": "gene"
}
]
}