{"count":220423,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=800","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=798","results":[{"created":"2022-07-14T12:23:52.433312+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.138","user_name":"Dean Phelan","item_type":"entity","text":"reviewed gene: KITLG: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 35543077, 28504826, 19375057, 21368769; Phenotypes: deafness, heterochromia iridis, hypopigmentation of the skin, hyperpigmentation of the skin, Waardenburg syndrome,MONDO:0018094, KITLG-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"KITLG","entity_type":"gene"},{"created":"2022-07-14T12:21:32.560810+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.42","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WNT7B as ready","entity_name":"WNT7B","entity_type":"gene"},{"created":"2022-07-14T12:21:32.549311+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.42","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnt7b has been classified as Green List (High Evidence).","entity_name":"WNT7B","entity_type":"gene"},{"created":"2022-07-14T12:17:15.527778+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.132","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: AUTS2 as ready","entity_name":"AUTS2","entity_type":"gene"},{"created":"2022-07-14T12:17:15.514191+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.132","user_name":"Elena Savva","item_type":"entity","text":"Gene: auts2 has been classified as Green List (High Evidence).","entity_name":"AUTS2","entity_type":"gene"},{"created":"2022-07-14T12:16:47.623600+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.132","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: AUTS2 as Green List (high evidence)","entity_name":"AUTS2","entity_type":"gene"},{"created":"2022-07-14T12:16:47.612111+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.132","user_name":"Elena Savva","item_type":"entity","text":"Gene: auts2 has been classified as Green List (High Evidence).","entity_name":"AUTS2","entity_type":"gene"},{"created":"2022-07-14T12:16:23.708269+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.131","user_name":"Elena Savva","item_type":"entity","text":"gene: AUTS2 was added\ngene: AUTS2 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: AUTS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: AUTS2 were set to PMID: 35802027; 34573342\nPhenotypes for gene: AUTS2 were set to Intellectual developmental disorder, autosomal dominant 26\tMIM#615834\nReview for gene: AUTS2 was set to GREEN\nAdded comment: PMID: 35802027 - human cerebral organoid model used to illustrate functionality of de novo missense variants.\r\nDescribes rat model who lacked a microcephaly presentation.\r\nProband has profound ID, microcephaly, epilepsy, cerebellar hypoplasia and dysmorphic features.\r\n\r\nPMID: 34573342 - microcephaly as a feature in 3/5 patients in an internal cohort. Review of the literature found 65% freq of microcephaly (34/52 patients) \nSources: Literature","entity_name":"AUTS2","entity_type":"gene"},{"created":"2022-07-14T12:16:06.051625+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.177","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NFATC2 as ready","entity_name":"NFATC2","entity_type":"gene"},{"created":"2022-07-14T12:16:06.030794+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.177","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nfatc2 has been classified as Red List (Low Evidence).","entity_name":"NFATC2","entity_type":"gene"},{"created":"2022-07-14T12:16:01.558238+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.177","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NFATC2 as Red List (low evidence)","entity_name":"NFATC2","entity_type":"gene"},{"created":"2022-07-14T12:16:01.543475+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.177","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nfatc2 has been classified as Red List (Low Evidence).","entity_name":"NFATC2","entity_type":"gene"},{"created":"2022-07-14T12:14:09.143278+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.140","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KITLG were changed from Deafness, autosomal dominant 69, unilateral or asymmetric, MIM#\t616697 to Waardenburg syndrome, MONDO:0018094, KITLG-related; Deafness, autosomal dominant 69, unilateral or asymmetric, MIM#\t616697","entity_name":"KITLG","entity_type":"gene"},{"created":"2022-07-14T12:14:08.503546+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.138","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NFATC2 as ready","entity_name":"NFATC2","entity_type":"gene"},{"created":"2022-07-14T12:14:08.491457+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.138","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nfatc2 has been classified as Red List (Low Evidence).","entity_name":"NFATC2","entity_type":"gene"},{"created":"2022-07-14T12:13:01.448586+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.139","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KITLG was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"KITLG","entity_type":"gene"},{"created":"2022-07-14T12:12:42.765100+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.138","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KITLG as Green List (high evidence)","entity_name":"KITLG","entity_type":"gene"},{"created":"2022-07-14T12:12:42.757140+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.138","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kitlg has been classified as Green List (High Evidence).","entity_name":"KITLG","entity_type":"gene"},{"created":"2022-07-14T12:10:43.615050+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.138","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NFATC2 as Red List (low evidence)","entity_name":"NFATC2","entity_type":"gene"},{"created":"2022-07-14T12:10:43.604081+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.138","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nfatc2 has been classified as Red List (Low Evidence).","entity_name":"NFATC2","entity_type":"gene"},{"created":"2022-07-14T12:10:18.834390+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.349","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NFATC2 as ready","entity_name":"NFATC2","entity_type":"gene"},{"created":"2022-07-14T12:10:18.821860+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.349","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nfatc2 has been classified as Red List (Low Evidence).","entity_name":"NFATC2","entity_type":"gene"},{"created":"2022-07-14T12:10:10.037935+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.349","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NFATC2 as Red List (low evidence)","entity_name":"NFATC2","entity_type":"gene"},{"created":"2022-07-14T12:10:10.026629+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.349","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nfatc2 has been classified as Red List (Low Evidence).","entity_name":"NFATC2","entity_type":"gene"},{"created":"2022-07-14T12:09:17.625498+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.176","user_name":"Paul De Fazio","item_type":"entity","text":"gene: NFATC2 was added\ngene: NFATC2 was added to Skeletal dysplasia. Sources: Literature\nMode of inheritance for gene: NFATC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NFATC2 were set to 35789258\nPhenotypes for gene: NFATC2 were set to Skeletal system disorder MONDO:0005172\nReview for gene: NFATC2 was set to RED\ngene: NFATC2 was marked as current diagnostic\nAdded comment: Patient born to consanguineous parents homozygous for a frameshift variant. No other (unaffected) members of the family were homozygous. Family history of recurrent childhood deaths.\r\n\r\nAfter a healthy birth the patient developed painless decreased range of motion at 1.5yrs leading to difficulty with ambulation at 3yrs. Formal orthopedic assessment at age 15 years\r\ndemonstrated a neurodevelopmentally normal young man with marked bilateral fixed flexion contractures of knees, hips, and ankles. The main musculoskeletal findings were painless contractures of the large and small joints of the upper and lower limbs, osteochondromas, and osteopenia. Patient was diagnosed with B-cell lymphoma at age 18.\r\n\r\nPatient CD8+ T-cells show impaired polyfunctionality, and the patient had an accumulation of non-functional memory CD4+ T-cells. TFH cell function was also impaired. \nSources: Literature","entity_name":"NFATC2","entity_type":"gene"},{"created":"2022-07-14T12:08:49.329500+10:00","panel_name":"Alternating Hemiplegia and Hemiplegic Migraine","panel_id":40,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CLDN5 as ready","entity_name":"CLDN5","entity_type":"gene"},{"created":"2022-07-14T12:08:49.317052+10:00","panel_name":"Alternating Hemiplegia and Hemiplegic Migraine","panel_id":40,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cldn5 has been classified as Amber List (Moderate Evidence).","entity_name":"CLDN5","entity_type":"gene"},{"created":"2022-07-14T12:08:44.200264+10:00","panel_name":"Alternating Hemiplegia and Hemiplegic Migraine","panel_id":40,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLDN5 were changed from alternating hemiplegia with microcephaly to alternating hemiplegia, MONDO:0016210, CLDN5-related","entity_name":"CLDN5","entity_type":"gene"},{"created":"2022-07-14T12:08:27.862658+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.348","user_name":"Paul De Fazio","item_type":"entity","text":"gene: NFATC2 was added\ngene: NFATC2 was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: NFATC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NFATC2 were set to 35789258\nPhenotypes for gene: NFATC2 were set to Skeletal system disorder MONDO:0005172\nReview for gene: NFATC2 was set to RED\ngene: NFATC2 was marked as current diagnostic\nAdded comment: Patient born to consanguineous parents homozygous for a frameshift variant. No other (unaffected) members of the family were homozygous. Family history of recurrent childhood deaths.\r\n\r\nAfter a healthy birth the patient developed painless decreased range of motion at 1.5yrs leading to difficulty with ambulation at 3yrs. Formal orthopedic assessment at age 15 years\r\ndemonstrated a neurodevelopmentally normal young man with marked bilateral fixed flexion contractures of knees, hips, and ankles. The main musculoskeletal findings were painless contractures of the large and small joints of the upper and lower limbs, osteochondromas, and osteopenia. Patient was diagnosed with B-cell lymphoma at age 18.\r\n\r\nPatient CD8+ T-cells show impaired polyfunctionality, and the patient had an accumulation of non-functional memory CD4+ T-cells. TFH cell function was also impaired. \nSources: Literature","entity_name":"NFATC2","entity_type":"gene"},{"created":"2022-07-14T12:07:45.219443+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.137","user_name":"Dean Phelan","item_type":"entity","text":"reviewed gene: KITLG: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 35543077, 28504826, 19375057, 21368769; Phenotypes: deafness, heterochromia iridis, hypopigmentation of the skin, hyperpigmentation of the skin, Waardenburg syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"KITLG","entity_type":"gene"},{"created":"2022-07-14T12:07:43.048504+10:00","panel_name":"Alternating Hemiplegia and Hemiplegic Migraine","panel_id":40,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CLDN5 as Amber List (moderate evidence)","entity_name":"CLDN5","entity_type":"gene"},{"created":"2022-07-14T12:07:43.041104+10:00","panel_name":"Alternating Hemiplegia and Hemiplegic Migraine","panel_id":40,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cldn5 has been classified as Amber List (Moderate Evidence).","entity_name":"CLDN5","entity_type":"gene"},{"created":"2022-07-14T12:07:00.772648+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.137","user_name":"Paul De Fazio","item_type":"entity","text":"gene: NFATC2 was added\ngene: NFATC2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NFATC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NFATC2 were set to 35789258\nPhenotypes for gene: NFATC2 were set to Skeletal system disorder MONDO:0005172\nReview for gene: NFATC2 was set to RED\ngene: NFATC2 was marked as current diagnostic\nAdded comment: Patient born to consanguineous parents homozygous for a frameshift variant. No other (unaffected) members of the family were homozygous. Family history of recurrent childhood deaths.\r\n\r\nAfter a healthy birth the patient developed painless decreased range of motion at 1.5yrs leading to difficulty with ambulation at 3yrs. Formal orthopedic assessment at age 15 years\r\ndemonstrated a neurodevelopmentally normal young man with marked bilateral fixed flexion contractures of knees, hips, and ankles. The main musculoskeletal findings were painless contractures of the large and small joints of the upper and lower limbs, osteochondromas, and osteopenia. Patient was diagnosed with B-cell lymphoma at age 18.\r\n\r\nPatient CD8+ T-cells show impaired polyfunctionality, and the patient had an accumulation of non-functional memory CD4+ T-cells. TFH cell function was also impaired. \nSources: Literature","entity_name":"NFATC2","entity_type":"gene"},{"created":"2022-07-14T12:06:52.022677+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.302","user_name":"Melanie Marty","item_type":"entity","text":"gene: CCDC155 was added\ngene: CCDC155 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: CCDC155 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC155 were set to 35674372; 35708642; 29790874; 35587281\nPhenotypes for gene: CCDC155 were set to Non-obstructive azoospermia; Premature ovarian insufficiency; Infertility disorder, MONDO:0005047, CCDC155-related\nReview for gene: CCDC155 was set to GREEN\nAdded comment: Current HGNC name is KASH5\r\n\r\nSummary: 4 families reported with non-obstructive azoospermia or premature ovarian insufficiency. Functional studies have been performed and mouse models recapitulate the phenotype.\r\n\r\nPMID: 35674372 CNV and frameshift variants in KASH5 were identified in a non-obstructive azoospermia affected patient and in his infertile sister by whole-exome sequencing and CNV array. Kash5 knockout mouse displayed similar phenotypes, including a meiotic arrest at a zygotene-like stage and impaired pairing and synapsis.\r\n\r\nPMID: 35708642 Hom splice identified in KASH5 in 2 sisters with premature ovarian insufficiency. In vitro studies found the variant disturbed the nuclear membrane localization of KASH5 and its binding with SUN1. Moreover, the Kash5 C-terminal deleted mice revealed defective meiotic homolog pairing and accelerated depletion of oocytes.\r\n\r\nPMID: 29790874 2 brothers with non-obstructive azoospermia with hom missense in CCDC155\r\n\r\nPMID: 35587281 2 siblings with hom missense in CCDC155 non-obstructive azoospermia and premature ovarian insufficiency. \nSources: Literature","entity_name":"CCDC155","entity_type":"gene"},{"created":"2022-07-14T12:05:52.262830+10:00","panel_name":"Alternating Hemiplegia and Hemiplegic Migraine","panel_id":40,"panel_version":"0.51","user_name":"Hazel Phillimore","item_type":"entity","text":"gene: CLDN5 was added\ngene: CLDN5 was added to Alternating Hemiplegia and Hemiplegic Migraine. Sources: Literature\nMode of inheritance for gene: CLDN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CLDN5 were set to PMID: 35714222\nPhenotypes for gene: CLDN5 were set to alternating hemiplegia with microcephaly\nMode of pathogenicity for gene: CLDN5 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: CLDN5 was set to AMBER\nAdded comment: PMID: 35714222; Hashimoto, Y et al (2022): Two unrelated cases (early-onset) with alternating hemiplegia with microcephaly were shown to have the same de novo variant, c.178G>A, p.(Gly60Arg).  \r\nOne with Jewish / Tunisian ancestry: Onset was at 8 months, three episodes of febrile tonic-clonic 1 seizures of the four limbs, with eye rolling, loss of consciousness, transient left and right post-2 ictal hemiparesis and vomiting.\r\nThe other with Asian / European ancestry: Onset was at 30 months with three iterative episodes of febrile and non-febrile hemiplegia and loss of 18 consciousness. The recurrent episodes alternatively involved the left-and 19 right-hand side, then generalised and were followed by post ictal hemiparesis. \r\nCT scans of both showed brain calcifications and aberrant blood flow patterns. \r\nTransfected HEK cell lines with this variant, c178G>A, showed higher chloride ion permeability and lower sodium ion permeability of the blood brain barrier when compared to wildtype. \nSources: Literature","entity_name":"CLDN5","entity_type":"gene"},{"created":"2022-07-14T12:04:47.444223+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.137","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIK3C2B as ready","entity_name":"PIK3C2B","entity_type":"gene"},{"created":"2022-07-14T12:04:47.434590+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.137","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pik3c2b has been classified as Amber List (Moderate Evidence).","entity_name":"PIK3C2B","entity_type":"gene"},{"created":"2022-07-14T12:04:32.292474+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.137","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIK3C2B as Amber List (moderate evidence)","entity_name":"PIK3C2B","entity_type":"gene"},{"created":"2022-07-14T12:04:32.281269+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.137","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pik3c2b has been classified as Amber List (Moderate Evidence).","entity_name":"PIK3C2B","entity_type":"gene"},{"created":"2022-07-14T11:59:49.838455+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.136","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CCDC155 as ready","entity_name":"CCDC155","entity_type":"gene"},{"created":"2022-07-14T11:59:49.822057+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.136","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccdc155 has been classified as Green List (High Evidence).","entity_name":"CCDC155","entity_type":"gene"},{"created":"2022-07-14T11:59:30.932219+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.136","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CCDC155 were changed from Non-obstructive azoospermia; Premature ovarian insufficiency to Non-obstructive azoospermia; Premature ovarian insufficiency; Infertility disorder, MONDO:0005047, CCDC155-related","entity_name":"CCDC155","entity_type":"gene"},{"created":"2022-07-14T11:57:42.814493+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.135","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CCDC155 as Green List (high evidence)","entity_name":"CCDC155","entity_type":"gene"},{"created":"2022-07-14T11:57:42.803560+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.135","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccdc155 has been classified as Green List (High Evidence).","entity_name":"CCDC155","entity_type":"gene"},{"created":"2022-07-14T11:57:15.623418+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.134","user_name":"Krithika Murali","item_type":"entity","text":"gene: PIK3C2B was added\ngene: PIK3C2B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PIK3C2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PIK3C2B were set to PMID:35786744\nPhenotypes for gene: PIK3C2B were set to familial partial epilepsy - MONDO#0017704\nReview for gene: PIK3C2B was set to AMBER\nAdded comment: No OMIM gene disease association.\r\n\r\nGozzelino et al.(2022) Brain - report enrichment of ultra-rare PIK3C2B variants in focal epilepsy cohorts, including one variant shown to be de novo (G1294Q). Segregation data not provided for all cases. The p.G1345S variant was inherited from an affected father. The p.K584* variant was inherited from an unaffected father suggesting incomplete penetrance. Functional studies supported a LoF mechanism and mouse model studies suggestive of mTORC1 pathway hyperactivation. \nSources: Literature","entity_name":"PIK3C2B","entity_type":"gene"},{"created":"2022-07-14T11:57:13.315597+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.134","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: CCDC155.","entity_name":"CCDC155","entity_type":"gene"},{"created":"2022-07-14T11:56:35.363163+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.134","user_name":"Melanie Marty","item_type":"entity","text":"gene: CCDC155 was added\ngene: CCDC155 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CCDC155 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC155 were set to 35674372; 35708642; 29790874; 35587281\nPhenotypes for gene: CCDC155 were set to Non-obstructive azoospermia; Premature ovarian insufficiency\nReview for gene: CCDC155 was set to GREEN\nAdded comment: Current HGNC name is KASH5\r\n\r\nSummary: 4 families reported with non-obstructive azoospermia or premature ovarian insufficiency. Functional studies have been performed and mouse models recapitulate the phenotype.\r\n\r\nPMID: 35674372  CNV and frameshift variants in KASH5 were identified in a non-obstructive azoospermia affected patient and in his infertile sister by whole-exome sequencing and CNV array. Kash5 knockout mouse displayed similar phenotypes, including a meiotic arrest at a zygotene-like stage and impaired pairing and synapsis.\r\n\r\nPMID: 35708642 Hom splice identified in KASH5 in 2 sisters with premature ovarian insufficiency. In vitro studies found the variant disturbed the nuclear membrane localization of KASH5 and its binding with SUN1. Moreover, the Kash5 C-terminal deleted mice revealed defective meiotic homolog pairing and accelerated depletion of oocytes.\r\n\r\nPMID: 29790874 2 brothers with non-obstructive azoospermia with hom missense in CCDC155\r\n\r\n35587281 2 siblings with hom missense in CCDC155 non-obstructive azoospermia and premature ovarian insufficiency. \nSources: Literature","entity_name":"CCDC155","entity_type":"gene"},{"created":"2022-07-14T11:55:30.408003+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.257","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: SLC30A7 as Amber List (moderate evidence)","entity_name":"SLC30A7","entity_type":"gene"},{"created":"2022-07-14T11:55:30.396907+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.257","user_name":"Alison Yeung","item_type":"entity","text":"Gene: slc30a7 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC30A7","entity_type":"gene"},{"created":"2022-07-14T11:55:15.926617+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.257","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: SLC30A7 as ready","entity_name":"SLC30A7","entity_type":"gene"},{"created":"2022-07-14T11:55:15.889976+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.257","user_name":"Alison Yeung","item_type":"entity","text":"Gene: slc30a7 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC30A7","entity_type":"gene"},{"created":"2022-07-14T11:55:13.224057+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.257","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: SLC30A7 as Amber List (moderate evidence)","entity_name":"SLC30A7","entity_type":"gene"},{"created":"2022-07-14T11:55:13.216080+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.257","user_name":"Alison Yeung","item_type":"entity","text":"Gene: slc30a7 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC30A7","entity_type":"gene"},{"created":"2022-07-14T11:54:32.019903+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.134","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: SLC30A7 as ready","entity_name":"SLC30A7","entity_type":"gene"},{"created":"2022-07-14T11:54:31.990393+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.134","user_name":"Alison Yeung","item_type":"entity","text":"Gene: slc30a7 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC30A7","entity_type":"gene"},{"created":"2022-07-14T11:54:21.310839+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.134","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: SLC30A7 as Amber List (moderate evidence)","entity_name":"SLC30A7","entity_type":"gene"},{"created":"2022-07-14T11:54:21.293168+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.134","user_name":"Alison Yeung","item_type":"entity","text":"Gene: slc30a7 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC30A7","entity_type":"gene"},{"created":"2022-07-14T11:54:12.357514+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1632","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIK3C2B as ready","entity_name":"PIK3C2B","entity_type":"gene"},{"created":"2022-07-14T11:54:12.343032+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1632","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pik3c2b has been classified as Amber List (Moderate Evidence).","entity_name":"PIK3C2B","entity_type":"gene"},{"created":"2022-07-14T11:54:08.094976+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1632","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIK3C2B as Amber List (moderate evidence)","entity_name":"PIK3C2B","entity_type":"gene"},{"created":"2022-07-14T11:54:08.086390+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1632","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pik3c2b has been classified as Amber List (Moderate Evidence).","entity_name":"PIK3C2B","entity_type":"gene"},{"created":"2022-07-14T11:53:54.032904+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.32","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: SLC30A7 as ready","entity_name":"SLC30A7","entity_type":"gene"},{"created":"2022-07-14T11:53:54.021516+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.32","user_name":"Alison Yeung","item_type":"entity","text":"Gene: slc30a7 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC30A7","entity_type":"gene"},{"created":"2022-07-14T11:53:48.318237+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.32","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: SLC30A7 as Amber List (moderate evidence)","entity_name":"SLC30A7","entity_type":"gene"},{"created":"2022-07-14T11:53:48.307348+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.32","user_name":"Alison Yeung","item_type":"entity","text":"Gene: slc30a7 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC30A7","entity_type":"gene"},{"created":"2022-07-14T11:53:28.555950+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.256","user_name":"Naomi Baker","item_type":"entity","text":"gene: SLC30A7 was added\ngene: SLC30A7 was added to Polydactyly. Sources: Literature\nMode of inheritance for gene: SLC30A7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC30A7 were set to PMID: 35751429\nPhenotypes for gene: SLC30A7 were set to Joubert syndrome (MONDO:0018772), SLC30A7-related\nReview for gene: SLC30A7 was set to AMBER\nAdded comment: PMID: 35751429: Two individuals reported with de novo variants, one missense and one delins resulting in missense. The first individual is a female with history of unilateral postaxial polydactyly, classic molar tooth sign on MRI, macrocephaly, ataxia, ocular motor apraxia, neurodevelopmental delay, and precocious puberty.  The second individual had bilateral postaxial polydactyly, molar tooth sign, macrocephaly, developmental delay, and an extra oral frenulum. No functional studies reported. \nSources: Literature","entity_name":"SLC30A7","entity_type":"gene"},{"created":"2022-07-14T11:53:07.645364+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.23","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: SLC30A7 as ready","entity_name":"SLC30A7","entity_type":"gene"},{"created":"2022-07-14T11:53:07.629626+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.23","user_name":"Alison Yeung","item_type":"entity","text":"Gene: slc30a7 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC30A7","entity_type":"gene"},{"created":"2022-07-14T11:52:50.379064+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.23","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: SLC30A7 as Amber List (moderate evidence)","entity_name":"SLC30A7","entity_type":"gene"},{"created":"2022-07-14T11:52:50.367153+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.23","user_name":"Alison Yeung","item_type":"entity","text":"Gene: slc30a7 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC30A7","entity_type":"gene"},{"created":"2022-07-14T11:52:43.646787+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.130","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WNK3 as ready","entity_name":"WNK3","entity_type":"gene"},{"created":"2022-07-14T11:52:43.633343+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.130","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnk3 has been classified as Amber List (Moderate Evidence).","entity_name":"WNK3","entity_type":"gene"},{"created":"2022-07-14T11:52:38.294251+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.130","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: WNK3 as Amber List (moderate evidence)","entity_name":"WNK3","entity_type":"gene"},{"created":"2022-07-14T11:52:38.282217+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.130","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnk3 has been classified as Amber List (Moderate Evidence).","entity_name":"WNK3","entity_type":"gene"},{"created":"2022-07-14T11:52:27.772344+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1631","user_name":"Krithika Murali","item_type":"entity","text":"gene: PIK3C2B was added\ngene: PIK3C2B was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PIK3C2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PIK3C2B were set to PMID: 35786744\nPhenotypes for gene: PIK3C2B were set to familial partial epilepsy - MONDO#0017704\nReview for gene: PIK3C2B was set to AMBER\nAdded comment: No OMIM gene disease association.\r\n\r\nGozzelino et al.(2022) Brain - report enrichment of ultra-rare PIK3C2B variants in focal epilepsy cohorts, including one variant shown to be de novo (G1294Q).  Segregation data not provided for all cases. The p.G1345S variant was inherited from an affected father. The p.K584* variant was inherited from an unaffected father suggesting incomplete penetrance. Functional studies supported a LoF mechanism and mouse model studies suggestive of mTORC1 pathway hyperactivation. \nSources: Literature","entity_name":"PIK3C2B","entity_type":"gene"},{"created":"2022-07-14T11:52:00.951536+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1631","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WNK3 as ready","entity_name":"WNK3","entity_type":"gene"},{"created":"2022-07-14T11:52:00.940030+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1631","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnk3 has been classified as Green List (High Evidence).","entity_name":"WNK3","entity_type":"gene"},{"created":"2022-07-14T11:51:58.582494+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:SLC30A7 from the panel","entity_name":null,"entity_type":null},{"created":"2022-07-14T11:51:05.671818+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1631","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: WNK3 as Green List (high evidence)","entity_name":"WNK3","entity_type":"gene"},{"created":"2022-07-14T11:51:05.657804+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1631","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnk3 has been classified as Green List (High Evidence).","entity_name":"WNK3","entity_type":"gene"},{"created":"2022-07-14T11:49:41.855909+10:00","panel_name":"Malignant Hyperthermia Susceptibility","panel_id":3378,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ASPH were changed from Exertional heat illness; malignant hyperthermia susceptibility HP:0002047, ASPH-related to Exertional heat illness; malignant hyperthermia susceptibility, MONDO:0018493, ASPH-related","entity_name":"ASPH","entity_type":"gene"},{"created":"2022-07-14T11:49:20.790867+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.133","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ASPH were changed from Traboulsi syndrome , MIM#601552 to Traboulsi syndrome , MIM#601552; Exertional heat illness; malignant hyperthermia susceptibility, MONDO:0018493, ASPH-related","entity_name":"ASPH","entity_type":"gene"},{"created":"2022-07-14T11:49:19.188077+10:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ASPH as ready","entity_name":"ASPH","entity_type":"gene"},{"created":"2022-07-14T11:49:19.179865+10:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asph has been classified as Amber List (Moderate Evidence).","entity_name":"ASPH","entity_type":"gene"},{"created":"2022-07-14T11:48:55.663749+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.132","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ASPH were set to 24768550; 30194805; 34018898","entity_name":"ASPH","entity_type":"gene"},{"created":"2022-07-14T11:48:25.417440+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.131","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ASPH was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ASPH","entity_type":"gene"},{"created":"2022-07-14T11:47:44.141209+10:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ASPH were changed from Exertional heat illness; malignant hyperthermia susceptibility to Exertional heat illness; malignant hyperthermia susceptibility, MONDO:0018493, ASPH-related","entity_name":"ASPH","entity_type":"gene"},{"created":"2022-07-14T11:46:12.985017+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.42","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470 to Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470","entity_name":"ACOX1","entity_type":"gene"},{"created":"2022-07-14T11:46:07.470201+10:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ASPH as Amber List (moderate evidence)","entity_name":"ASPH","entity_type":"gene"},{"created":"2022-07-14T11:46:07.452468+10:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asph has been classified as Amber List (Moderate Evidence).","entity_name":"ASPH","entity_type":"gene"},{"created":"2022-07-14T11:45:48.772579+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.42","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: ACOX1 as ready","entity_name":"ACOX1","entity_type":"gene"},{"created":"2022-07-14T11:45:48.760913+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.42","user_name":"Alison Yeung","item_type":"entity","text":"Gene: acox1 has been classified as Green List (High Evidence).","entity_name":"ACOX1","entity_type":"gene"},{"created":"2022-07-14T11:45:40.261219+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.42","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470 to Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470","entity_name":"ACOX1","entity_type":"gene"},{"created":"2022-07-14T11:45:18.047630+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.41","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470; Mitchell syndrome, MIM# 618960 to Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470","entity_name":"ACOX1","entity_type":"gene"},{"created":"2022-07-14T11:45:01.377101+10:00","panel_name":"Malignant Hyperthermia Susceptibility","panel_id":3378,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ASPH as ready","entity_name":"ASPH","entity_type":"gene"},{"created":"2022-07-14T11:45:01.366228+10:00","panel_name":"Malignant Hyperthermia Susceptibility","panel_id":3378,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asph has been classified as Amber List (Moderate Evidence).","entity_name":"ASPH","entity_type":"gene"},{"created":"2022-07-14T11:44:57.638574+10:00","panel_name":"Malignant Hyperthermia Susceptibility","panel_id":3378,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ASPH were changed from Exertional heat illness; malignant hyperthermia susceptibility to Exertional heat illness; malignant hyperthermia susceptibility HP:0002047, ASPH-related","entity_name":"ASPH","entity_type":"gene"},{"created":"2022-07-14T11:44:55.974186+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.41","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: ACOX1 were changed from  to Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470; Mitchell syndrome, MIM# 618960","entity_name":"ACOX1","entity_type":"gene"},{"created":"2022-07-14T11:44:30.907351+10:00","panel_name":"Malignant Hyperthermia Susceptibility","panel_id":3378,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ASPH as Amber List (moderate evidence)","entity_name":"ASPH","entity_type":"gene"},{"created":"2022-07-14T11:44:30.897194+10:00","panel_name":"Malignant Hyperthermia Susceptibility","panel_id":3378,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asph has been classified as Amber List (Moderate Evidence).","entity_name":"ASPH","entity_type":"gene"}]}