{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=631","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=629","results":[{"created":"2023-03-10T10:30:32.981443+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.720","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DPYSL2 as ready","entity_name":"DPYSL2","entity_type":"gene"},{"created":"2023-03-10T10:30:32.974254+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.720","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpysl2 has been classified as Amber List (Moderate Evidence).","entity_name":"DPYSL2","entity_type":"gene"},{"created":"2023-03-10T10:30:22.444894+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.720","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DPYSL2 as Amber List (moderate evidence)","entity_name":"DPYSL2","entity_type":"gene"},{"created":"2023-03-10T10:30:22.437412+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.720","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpysl2 has been classified as Amber List (Moderate Evidence).","entity_name":"DPYSL2","entity_type":"gene"},{"created":"2023-03-10T10:30:01.690617+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.719","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DPYSL2 was added\ngene: DPYSL2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DPYSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DPYSL2 were set to 27249678; 35861646\nPhenotypes for gene: DPYSL2 were set to intellectual disability, MONDO:0001071, DPYSL2-related\nReview for gene: DPYSL2 was set to AMBER\nAdded comment: Two unrelated cases with monoallelic variants in DPYSL2/ CRMP2, supported by functional studies. However, the evidence is not sufficient for green rating as there are variants reported in other (but different) genes in the two patients.\r\n\r\nPMID:35861646 reported two cases identified with heterozygous variants (patient1: c.1693C>T (p.Arg565Cys); patient 2: c.42C>A (p.Ser14Arg). These patients had overlapping phenotypes including dysmorphic features, severe global developmental delay and hypoplasia of the corpus callosum. In addition, patient 2 was bed-ridden and could not roll out and had a history of myoclonic seizures and status epilepticus.\r\n\r\nIt should be noted that patient 1 is compound heterozygous for 2 missense variants in the EFCAB5 gene and was hemizygous for a maternally inherited missense variant in the GPKOW gene and patient 2 had 1 de novo missense variant in the COBLL1 gene and was compound heterozygous for 2 missense variants in the POTEF gene. The severity of the phenotypes between the two cases differs significantly and the additional variants may have possibly contributed to this phenotype.\r\n\r\nBrain-specific Crmp2 knockout mice display neuronal development deficits and behavioural impairments associated with hypoplasia of the corpus callosum. In addition, functional studies performed in zebrafish and cell lines that the CRMP2 variants lead to the loss-of-function of CRMP2 protein and can cause intellectual disability. \nSources: Literature","entity_name":"DPYSL2","entity_type":"gene"},{"created":"2023-03-10T10:29:12.510927+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5189","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DPYSL2 as ready","entity_name":"DPYSL2","entity_type":"gene"},{"created":"2023-03-10T10:29:12.503456+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5189","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpysl2 has been classified as Amber List (Moderate Evidence).","entity_name":"DPYSL2","entity_type":"gene"},{"created":"2023-03-10T10:29:01.512641+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5189","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DPYSL2 were changed from intellectual disability, MONDO:0001071; Aplasia/Hypoplasia of the corpus callosum, HP:0007370 to intellectual disability, MONDO:0001071, DPYSL2-related","entity_name":"DPYSL2","entity_type":"gene"},{"created":"2023-03-10T10:23:09.504748+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5188","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DPYSL2 as Amber List (moderate evidence)","entity_name":"DPYSL2","entity_type":"gene"},{"created":"2023-03-10T10:23:09.493311+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5188","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dpysl2 has been classified as Amber List (Moderate Evidence).","entity_name":"DPYSL2","entity_type":"gene"},{"created":"2023-03-10T10:21:31.835326+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5187","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CTR9 were set to PMID: 35499524","entity_name":"CTR9","entity_type":"gene"},{"created":"2023-03-10T10:16:14.132620+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.718","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RBSN as ready","entity_name":"RBSN","entity_type":"gene"},{"created":"2023-03-10T10:16:14.121236+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.718","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rbsn has been classified as Green List (High Evidence).","entity_name":"RBSN","entity_type":"gene"},{"created":"2023-03-10T10:15:59.910193+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.718","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RBSN as Green List (high evidence)","entity_name":"RBSN","entity_type":"gene"},{"created":"2023-03-10T10:15:59.896713+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.718","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rbsn has been classified as Green List (High Evidence).","entity_name":"RBSN","entity_type":"gene"},{"created":"2023-03-10T10:15:39.805796+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.717","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RBSN was added\ngene: RBSN was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RBSN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RBSN were set to 25233840; 29784638; 35652444\nPhenotypes for gene: RBSN were set to intellectual disability, MONDO:0001071, RBSN-related\nReview for gene: RBSN was set to GREEN\nAdded comment: Four unrelated families reported, consistent feature is ID.\r\n\r\nPMID:25233840 reported a 6.5 year old female patient with a homozygous missense variant c.1273G > A (p.Gly425Arg) and her clinical presentation included intractable seizures, developmental delay, microcephaly, dysostosis, osteopenia, craniofacial dysmorphism, macrocytosis and megaloblastoid erythropoiesis.\r\n\r\nPMID:29784638 reported three siblings with homozygous variant c.289G>C (p.Gly97Arg) in RBSN. The proband presented global developmental delay, had complete 46,XY male-to-female sex reversal and died at age 20 months after multiple infections. The other 2 affected siblings underwent unrelated-donor bone marrow or stem cell transplantation at 8 and 6.5 months of age, respectively. Both have severe intellectual disability and are nonambulatory and nonverbal.\r\n\r\nPMID:35652444 reported two unrelated families (three siblings from a family of Iranian descent identified with homozygous variant c.547G>A (p.Gly183Arg) and four members from a family of indigenous Cree descent identified with homozygous variant c.538C>G (p.Arg180Gly)) with overlapping phenotypes including developmental delay, intellectual disability, distal motor axonal neuropathy and facial dysmorphism. \nSources: Literature","entity_name":"RBSN","entity_type":"gene"},{"created":"2023-03-10T10:13:12.613791+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5186","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RBSN as ready","entity_name":"RBSN","entity_type":"gene"},{"created":"2023-03-10T10:13:12.606188+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5186","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rbsn has been classified as Green List (High Evidence).","entity_name":"RBSN","entity_type":"gene"},{"created":"2023-03-10T10:11:23.168918+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5186","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RBSN as Green List (high evidence)","entity_name":"RBSN","entity_type":"gene"},{"created":"2023-03-10T10:11:23.161122+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5186","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rbsn has been classified as Green List (High Evidence).","entity_name":"RBSN","entity_type":"gene"},{"created":"2023-03-10T09:57:55.781232+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.716","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SRPRA as ready","entity_name":"SRPRA","entity_type":"gene"},{"created":"2023-03-10T09:57:55.772673+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.716","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srpra has been classified as Amber List (Moderate Evidence).","entity_name":"SRPRA","entity_type":"gene"},{"created":"2023-03-10T09:22:03.293385+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.716","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SRPRA as Amber List (moderate evidence)","entity_name":"SRPRA","entity_type":"gene"},{"created":"2023-03-10T09:22:03.276018+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.716","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srpra has been classified as Amber List (Moderate Evidence).","entity_name":"SRPRA","entity_type":"gene"},{"created":"2023-03-10T09:19:52.657180+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.715","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SRPRA was added\ngene: SRPRA was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SRPRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SRPRA were set to 36223592\nPhenotypes for gene: SRPRA were set to Schwachman-Diamond syndrome MONDO:0009833, SRPA-related\nReview for gene: SRPRA was set to AMBER\nAdded comment: De novo variant; zebrafish model. Schwachman-Diamond like. \nSources: Literature","entity_name":"SRPRA","entity_type":"gene"},{"created":"2023-03-10T09:15:57.716421+11:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SRPRA as ready","entity_name":"SRPRA","entity_type":"gene"},{"created":"2023-03-10T09:15:57.707987+11:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srpra has been classified as Amber List (Moderate Evidence).","entity_name":"SRPRA","entity_type":"gene"},{"created":"2023-03-10T09:15:42.593859+11:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SRPRA were changed from neutropenia; myeloid maturation arrest; exocrine pancreatic insufficiency; growth deficiency to Schwachman-Diamond syndrome MONDO:0009833, SRPA-related","entity_name":"SRPRA","entity_type":"gene"},{"created":"2023-03-10T09:15:22.179113+11:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SRPRA as Amber List (moderate evidence)","entity_name":"SRPRA","entity_type":"gene"},{"created":"2023-03-10T09:15:22.165306+11:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srpra has been classified as Amber List (Moderate Evidence).","entity_name":"SRPRA","entity_type":"gene"},{"created":"2023-03-10T09:15:01.590199+11:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SRPRA as Amber List (moderate evidence)","entity_name":"SRPRA","entity_type":"gene"},{"created":"2023-03-10T09:15:01.569579+11:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srpra has been classified as Amber List (Moderate Evidence).","entity_name":"SRPRA","entity_type":"gene"},{"created":"2023-03-10T09:14:29.719981+11:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SRPRA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Schwachman-Diamond syndrome MONDO:0009833, SRPA-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SRPRA","entity_type":"gene"},{"created":"2023-03-10T09:12:26.056293+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.32","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SRPRA as ready","entity_name":"SRPRA","entity_type":"gene"},{"created":"2023-03-10T09:12:26.048105+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srpra has been classified as Amber List (Moderate Evidence).","entity_name":"SRPRA","entity_type":"gene"},{"created":"2023-03-10T09:10:53.524138+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.32","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SRPRA were changed from neutropenia; myeloid maturation arrest; exocrine pancreatic insufficiency; growth deficiency to Schwachman-Diamond syndrome MONDO:0009833, SRPA-related","entity_name":"SRPRA","entity_type":"gene"},{"created":"2023-03-10T09:10:09.162739+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.31","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SRPRA as Amber List (moderate evidence)","entity_name":"SRPRA","entity_type":"gene"},{"created":"2023-03-10T09:10:09.151327+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srpra has been classified as Amber List (Moderate Evidence).","entity_name":"SRPRA","entity_type":"gene"},{"created":"2023-03-10T09:09:36.788231+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.30","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SRPRA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Schwachman-Diamond syndrome MONDO:0009833, SRPA-relatted; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SRPRA","entity_type":"gene"},{"created":"2023-03-10T08:56:36.988692+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.714","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SRP19 as ready","entity_name":"SRP19","entity_type":"gene"},{"created":"2023-03-10T08:56:36.974642+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.714","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srp19 has been classified as Amber List (Moderate Evidence).","entity_name":"SRP19","entity_type":"gene"},{"created":"2023-03-10T08:56:23.553977+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.714","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SRP19 as Amber List (moderate evidence)","entity_name":"SRP19","entity_type":"gene"},{"created":"2023-03-10T08:56:23.546347+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.714","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srp19 has been classified as Amber List (Moderate Evidence).","entity_name":"SRP19","entity_type":"gene"},{"created":"2023-03-10T08:56:05.089105+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.713","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SRP19 was added\ngene: SRP19 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SRP19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SRP19 were set to 36223592\nPhenotypes for gene: SRP19 were set to Neutropenia, MONDO:0001475, SRP19-related\nReview for gene: SRP19 was set to AMBER\nAdded comment: Five individuals from two branches of a consanguineous family, good segregation data. Zebrafish model. \nSources: Literature","entity_name":"SRP19","entity_type":"gene"},{"created":"2023-03-10T08:53:48.120884+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.30","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SRP19 as Amber List (moderate evidence)","entity_name":"SRP19","entity_type":"gene"},{"created":"2023-03-10T08:53:48.109564+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srp19 has been classified as Amber List (Moderate Evidence).","entity_name":"SRP19","entity_type":"gene"},{"created":"2023-03-10T08:53:19.248336+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SRP19: Added comment: Five individuals from two branches of a consanguineous family, good segregation data. Zebrafish model.; Changed rating: AMBER","entity_name":"SRP19","entity_type":"gene"},{"created":"2023-03-10T08:52:58.699585+11:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Five individuals from two branches of a consanguineous family, good segregation data. Zebrafish model.; to: Five individuals from two branches of a consanguineous family, good segregation data. Zebrafish model.","entity_name":"SRP19","entity_type":"gene"},{"created":"2023-03-10T08:52:42.101050+11:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SRP19 as ready","entity_name":"SRP19","entity_type":"gene"},{"created":"2023-03-10T08:52:42.093714+11:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srp19 has been classified as Amber List (Moderate Evidence).","entity_name":"SRP19","entity_type":"gene"},{"created":"2023-03-10T08:52:17.249549+11:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SRP19 were changed from neutropenia; myeloid maturation arrest; growth deficiency to Neutropenia, MONDO:0001475, SRP19-related","entity_name":"SRP19","entity_type":"gene"},{"created":"2023-03-10T08:51:45.482477+11:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SRP19 as Amber List (moderate evidence)","entity_name":"SRP19","entity_type":"gene"},{"created":"2023-03-10T08:51:45.470998+11:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srp19 has been classified as Amber List (Moderate Evidence).","entity_name":"SRP19","entity_type":"gene"},{"created":"2023-03-10T08:51:13.343211+11:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SRP19: Added comment: Five individuals from two branches of a consanguineous family, good segregation data. Zebrafish model.; Changed rating: AMBER","entity_name":"SRP19","entity_type":"gene"},{"created":"2023-03-10T08:48:11.257820+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SRP19 as ready","entity_name":"SRP19","entity_type":"gene"},{"created":"2023-03-10T08:48:11.206228+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srp19 has been classified as Red List (Low Evidence).","entity_name":"SRP19","entity_type":"gene"},{"created":"2023-03-10T08:47:04.795643+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SRP19 were changed from Neutropenia, MONDO:0001475, SRP19-related to Neutropenia, MONDO:0001475, SRP19-related","entity_name":"SRP19","entity_type":"gene"},{"created":"2023-03-10T08:46:46.464713+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SRP19 were changed from neutropenia; myeloid maturation arrest; growth deficiency to Neutropenia, MONDO:0001475, SRP19-related","entity_name":"SRP19","entity_type":"gene"},{"created":"2023-03-10T08:46:34.219608+11:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SRP19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropenia, MONDO:0001475, SRP19-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SRP19","entity_type":"gene"},{"created":"2023-03-10T08:46:08.278395+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.28","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SRP19 as Red List (low evidence)","entity_name":"SRP19","entity_type":"gene"},{"created":"2023-03-10T08:46:08.270826+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srp19 has been classified as Red List (Low Evidence).","entity_name":"SRP19","entity_type":"gene"},{"created":"2023-03-10T08:45:35.249900+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.27","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SRP19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropenia, MONDO:0001475, SRP19-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SRP19","entity_type":"gene"},{"created":"2023-03-10T08:42:34.385831+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.712","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATP5B were set to 36860166","entity_name":"ATP5B","entity_type":"gene"},{"created":"2023-03-10T08:42:09.943691+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.711","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Two families only, clinical presentation with dystonia; incomplete penetrance observed. Some functional data.\r\n\r\nNote also PMID 36239646 reporting de novo variant in identical twins with hypermetabolism. \r\nSources: Literature; to: PMID 36860166: Two families only, clinical presentation with dystonia; incomplete penetrance observed. Some functional data.\r\n\r\nNote also PMID 36239646 reporting de novo variant in identical twins with hypermetabolism. \r\nSources: Literature","entity_name":"ATP5B","entity_type":"gene"},{"created":"2023-03-10T08:41:56.454704+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.711","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ATP5B: Changed publications: 36860166, 36239646","entity_name":"ATP5B","entity_type":"gene"},{"created":"2023-03-10T08:41:42.788643+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.711","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Two families only, clinical presentation with dystonia; incomplete penetrance observed. Some functional data. \nSources: Literature; to: Two families only, clinical presentation with dystonia; incomplete penetrance observed. Some functional data.\r\n\r\nNote also PMID 36239646 reporting de novo variant in identical twins with hypermetabolism. \r\nSources: Literature","entity_name":"ATP5B","entity_type":"gene"},{"created":"2023-03-10T08:41:08.846302+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.859","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP5B as ready","entity_name":"ATP5B","entity_type":"gene"},{"created":"2023-03-10T08:41:08.838660+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.859","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp5b has been classified as Amber List (Moderate Evidence).","entity_name":"ATP5B","entity_type":"gene"},{"created":"2023-03-10T08:41:01.176117+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.859","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATP5B as Amber List (moderate evidence)","entity_name":"ATP5B","entity_type":"gene"},{"created":"2023-03-10T08:41:01.154405+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.859","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp5b has been classified as Amber List (Moderate Evidence).","entity_name":"ATP5B","entity_type":"gene"},{"created":"2023-03-10T08:40:23.684899+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.858","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP5B was added\ngene: ATP5B was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: ATP5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP5B were set to 36860166; 36239646\nPhenotypes for gene: ATP5B were set to Inherited dystonia, MONDO:0044807, ATP5B-related\nReview for gene: ATP5B was set to AMBER\nAdded comment: PMID 36860166: Two families, clinical presentation with dystonia; incomplete penetrance observed. Some functional data.\r\n\r\nATP5F1B is a subunit of the mitochondrial ATP synthase or complex V of the mitochondrial respiratory chain.\r\n\r\nNote also PMID 36239646 reporting de novo variant in identical twins with hypermetabolism. \nSources: Literature","entity_name":"ATP5B","entity_type":"gene"},{"created":"2023-03-10T01:00:07.636162+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.711","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"changed review comment from: Comment on rating: This gene should be rated RED as this gene has been associated with post-lingual autosomal dominant non-syndromic hearing loss from a single family, and supported by functional studies.\r\n\r\nPMID:36048850 reported the identification of a heterozygous non-coding variant c.-81_-73delinsAGC cosegregating with hearing loss. Although variants have been identified in KIF17 and USP48 in several members of this family, they did not cosegregate with hearing loss. One affected member of this family had an ideal hearing restoration after cochlear implantation. \r\n\r\nEpha10 was expressed in mouse cochlea at both transcription and translation levels. In addition, EPHA10 mRNA was detected upregulated in patients compared with controls by qRT-PCR. Overexpression of Eph (the homolog of human EPHA10) altered the structure and function of chordotonal organ (equivalent to mammalian auditory organs) in fly model. These functional evidence suggests that 'gain of function' may be responsible for the hearing loss phenotype.\r\n\r\nThis gene has not yet been associated with any phenotypes in OMIM or Gene2Phenotype. \r\nSources: Literature; to: Comment on rating: This gene should be rated RED as this gene has been associated with post-lingual autosomal dominant non-syndromic hearing loss from a single family, and supported by functional studies.\r\n\r\nPMID:36048850 reported the identification of a heterozygous non-coding variant c.-81_-73delinsAGC cosegregating with hearing loss. Although variants have been identified in KIF17 and USP48 in several members of this family, they did not cosegregate with hearing loss. One affected member of this family had an ideal hearing restoration after cochlear implantation. \r\n\r\nEpha10 was expressed in mouse cochlea at both transcription and translation levels. In addition, EPHA10 mRNA was detected upregulated in patients compared with controls by qRT-PCR. Overexpression of Eph (the homolog of human EPHA10) altered the structure and function of chordotonal organ (equivalent to mammalian auditory organs) in fly model. Particularly, Eph overexpressed flies  had a poorer performance compared to controls in negative geotaxis assay. These functional evidence suggests that 'gain of function' may be responsible for the hearing loss phenotype.\r\n\r\nThis gene has not yet been associated with any phenotypes in OMIM or Gene2Phenotype. \r\nSources: Literature","entity_name":"EPHA10","entity_type":"gene"},{"created":"2023-03-10T00:54:52.532311+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.711","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"changed review comment from: Comment on gene rating: This gene should be rated AMBER as there is one case and supportive functional data to associate OXR1 with hearing loss.\r\n\r\nA four years old girl was identified with a novel homozygous missense variant (c.233A > G, p.Lys78Arg) in OXR1 gene and was reported with sensorineural hearing loss. \r\n\r\nFunctional studies in zebrafish model showed that the ortholog orx1b gene is expressed in the statoacoustic ganglion (SAG, a sensory ganglion of ear) and posterior lateral line ganglion (pLL). In addition, knockdown of oxr1b resulted in a significant developmental defect of SAG and pLL and this phenotype was rescued by co-injection of wild-type human OXR1 mRNAs, but not mutant OXR1 (c.233A > G) mRNAs.; to: Comment on gene rating: This gene should be rated AMBER as there is one case and supportive functional data to associate OXR1 with hearing loss.\r\n\r\nA four years old girl was identified with a novel homozygous missense variant (c.233A > G, p.Lys78Arg) in OXR1 gene and was reported with sensorineural hearing loss. \r\n\r\nFunctional studies in zebrafish model showed that the ortholog orx1b gene is expressed in the statoacoustic ganglion (SAG, a sensory ganglion of ear) and posterior lateral line ganglion (pLL). In addition, knockdown of oxr1b resulted in a significant developmental defect of SAG and pLL and this phenotype was rescued by co-injection of wild-type human OXR1 mRNAs, but not mutant OXR1 (c.233A > G) mRNAs.\r\n\r\nThis gene has not yet been associated with hearing loss either in OMIM or in Gene2Phenotype.","entity_name":"OXR1","entity_type":"gene"},{"created":"2023-03-10T00:53:56.450249+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.711","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"changed review comment from: Comment on rating: This gene should be rated RED as this gene has been associated with post-lingual autosomal dominant non-syndromic hearing loss from a single family, and supported by functional studies.\r\n\r\nPMID:36048850 reported the identification of a heterozygous non-coding variant c.-81_-73delinsAGC cosegregating with hearing loss. Although variants have been identified in KIF17 and USP48 in several members of this family, they did not cosegregate with hearing loss. One affected member of this family had an ideal hearing restoration after cochlear implantation. \r\n\r\nEpha10 was expressed in mouse cochlea at both transcription and translation levels. In addition, EPHA10 mRNA was detected upregulated in patients compared with controls by qRT-PCR. Overexpression of Eph (the homolog of human EPHA10) altered the structure and function of chordotonal organ (equivalent to mammalian auditory organs) in fly model. These functional evidence suggests that 'gain of function' may be responsible for the hearing loss phenotype.\r\n\r\nThis gene has not yet been associated with any phenotypes in OMIM or Gene2Phenotype. \nSources: Literature; to: Comment on rating: This gene should be rated RED as this gene has been associated with post-lingual autosomal dominant non-syndromic hearing loss from a single family, and supported by functional studies.\r\n\r\nPMID:36048850 reported the identification of a heterozygous non-coding variant c.-81_-73delinsAGC cosegregating with hearing loss. Although variants have been identified in KIF17 and USP48 in several members of this family, they did not cosegregate with hearing loss. One affected member of this family had an ideal hearing restoration after cochlear implantation. \r\n\r\nEpha10 was expressed in mouse cochlea at both transcription and translation levels. In addition, EPHA10 mRNA was detected upregulated in patients compared with controls by qRT-PCR. Overexpression of Eph (the homolog of human EPHA10) altered the structure and function of chordotonal organ (equivalent to mammalian auditory organs) in fly model. These functional evidence suggests that 'gain of function' may be responsible for the hearing loss phenotype.\r\n\r\nThis gene has not yet been associated with any phenotypes in OMIM or Gene2Phenotype. \r\nSources: Literature","entity_name":"EPHA10","entity_type":"gene"},{"created":"2023-03-10T00:50:25.803643+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.711","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"reviewed gene: OXR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 36130215; Phenotypes: sensorineural hearing loss disorder, MONDO:0020678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"OXR1","entity_type":"gene"},{"created":"2023-03-09T21:40:14.996308+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.711","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"gene: EPHA10 was added\ngene: EPHA10 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EPHA10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EPHA10 were set to 36048850\nPhenotypes for gene: EPHA10 were set to postlingual non-syndromic genetic hearing loss, MONDO:0016298\nMode of pathogenicity for gene: EPHA10 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: EPHA10 was set to RED\nAdded comment: Comment on rating: This gene should be rated RED as this gene has been associated with post-lingual autosomal dominant non-syndromic hearing loss from a single family, and supported by functional studies.\r\n\r\nPMID:36048850 reported the identification of a heterozygous non-coding variant c.-81_-73delinsAGC cosegregating with hearing loss. Although variants have been identified in KIF17 and USP48 in several members of this family, they did not cosegregate with hearing loss. One affected member of this family had an ideal hearing restoration after cochlear implantation. \r\n\r\nEpha10 was expressed in mouse cochlea at both transcription and translation levels. In addition, EPHA10 mRNA was detected upregulated in patients compared with controls by qRT-PCR. Overexpression of Eph (the homolog of human EPHA10) altered the structure and function of chordotonal organ (equivalent to mammalian auditory organs) in fly model. These functional evidence suggests that 'gain of function' may be responsible for the hearing loss phenotype.\r\n\r\nThis gene has not yet been associated with any phenotypes in OMIM or Gene2Phenotype. \nSources: Literature","entity_name":"EPHA10","entity_type":"gene"},{"created":"2023-03-09T20:58:32.150519+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1958","user_name":"Lilian Downie","item_type":"entity","text":"gene: USP18 was added\ngene: USP18 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: USP18 were set to PMID: 31940699, 27325888, 12833411\nPhenotypes for gene: USP18 were set to Pseudo-TORCH syndrome 2\tMIM#617397\nReview for gene: USP18 was set to AMBER\nAdded comment: antenatal onset of intracranial hemorrhage, calcification, brain malformations, liver dysfunction, and often thrombocytopenia. Affected individuals tend to have respiratory insufficiency and seizures, and die in infancy. The phenotype resembles the sequelae of intrauterine infection, but there is no evidence of an infectious agent. The disorder results from inappropriate activation of the interferon (IFN) immunologic pathway  \r\n\r\nTreatment Ruxolitinib (single patient only) - is a single patient with successful treatment enough? \nSources: Expert list","entity_name":"USP18","entity_type":"gene"},{"created":"2023-03-09T20:46:16.699111+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1958","user_name":"Lilian Downie","item_type":"entity","text":"gene: VKORC1 was added\ngene: VKORC1 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: VKORC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: VKORC1 were set to PMID:14765194, PMID: 26287237\nPhenotypes for gene: VKORC1 were set to Vitamin K-dependent clotting factors, combined deficiency of, 2 MIM#607473\nReview for gene: VKORC1 was set to AMBER\nAdded comment: Risk of intracranial haemmorhage in first weeks of life \r\nTreatable with vitamin K \r\nSee below summary - feels like should be green for that homozygous mutation but not sure how to manage the gene overall? not report other variants? \r\nMonoallelic - warfarin resistance \r\n\r\nThere is only one mutation known to result in the VKCFD2 phenotype. VKORC1:p.Arg98Trp causes diminished vitamin K epoxide reductase (VKOR) activity compared to that of the wild-type enzyme [15]. VKCFD2 patients exhibit severely diminished activities for the VKD coagulation factors and suffer spontaneous or surgery/injury induced bleeding episodes [16,17]. In addition to this haemorrhagic phenotype, abnormalities in epiphyseal growth have been reported in one case [18]. This phenotype is very rare. Worldwide, there are only four unrelated families known to be affected with VKCFD2 [16,17,18]. \nSources: Expert list","entity_name":"VKORC1","entity_type":"gene"},{"created":"2023-03-09T20:34:53.953130+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1958","user_name":"Lilian Downie","item_type":"entity","text":"gene: WDR1 was added\ngene: WDR1 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: WDR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR1 were set to PMID: 32960541, 27994071, 27557945\nPhenotypes for gene: WDR1 were set to Periodic fever, immunodeficiency, and thrombocytopenia syndrome MIM#150550\nReview for gene: WDR1 was set to GREEN\nAdded comment: Strong gene disease association\r\nPhenotype is early onset immunodeficiency with infections ++ and severe stomatitis \r\nTreatable with bone marrow transplant. \nSources: Expert list","entity_name":"WDR1","entity_type":"gene"},{"created":"2023-03-09T18:57:45.972956+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.711","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP5B as ready","entity_name":"ATP5B","entity_type":"gene"},{"created":"2023-03-09T18:57:45.965311+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.711","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp5b has been classified as Amber List (Moderate Evidence).","entity_name":"ATP5B","entity_type":"gene"},{"created":"2023-03-09T18:57:35.883573+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.711","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATP5B as Amber List (moderate evidence)","entity_name":"ATP5B","entity_type":"gene"},{"created":"2023-03-09T18:57:35.869681+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.711","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp5b has been classified as Amber List (Moderate Evidence).","entity_name":"ATP5B","entity_type":"gene"},{"created":"2023-03-09T18:57:04.774532+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.710","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATP5B was added\ngene: ATP5B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ATP5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP5B were set to 36860166\nPhenotypes for gene: ATP5B were set to Inherited dystonia, MONDO:0044807, ATP5B-related\nReview for gene: ATP5B was set to AMBER\nAdded comment: Two families only, clinical presentation with dystonia; incomplete penetrance observed. Some functional data. \nSources: Literature","entity_name":"ATP5B","entity_type":"gene"},{"created":"2023-03-09T18:51:51.955576+11:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SHQ1 as ready","entity_name":"SHQ1","entity_type":"gene"},{"created":"2023-03-09T18:51:51.935671+11:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: shq1 has been classified as Amber List (Moderate Evidence).","entity_name":"SHQ1","entity_type":"gene"},{"created":"2023-03-09T18:49:45.740267+11:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SHQ1 were changed from PAROXYSMAL DYSTONIA; INTELLECTUAL DISABILITY; HYPOTONIA; CHOREOATHETOSIS; EPILEPSY to Neurodevelopmental disorder with dystonia and seizures, MIM# 619922","entity_name":"SHQ1","entity_type":"gene"},{"created":"2023-03-09T18:49:02.240175+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.709","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SHQ1 were set to 34542157; 29178645","entity_name":"SHQ1","entity_type":"gene"},{"created":"2023-03-09T18:48:39.685614+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.708","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SHQ1: Added comment: Fourth family reported in PMID 36847845 with hypotonia and paroxysmal dyskinesia.; Changed publications: 34542157, 29178645, 36847845","entity_name":"SHQ1","entity_type":"gene"},{"created":"2023-03-09T18:48:36.915309+11:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SHQ1 were set to ","entity_name":"SHQ1","entity_type":"gene"},{"created":"2023-03-09T18:48:06.122691+11:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SHQ1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SHQ1","entity_type":"gene"},{"created":"2023-03-09T18:46:09.861806+11:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SHQ1 as Amber List (moderate evidence)","entity_name":"SHQ1","entity_type":"gene"},{"created":"2023-03-09T18:46:09.852976+11:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: shq1 has been classified as Amber List (Moderate Evidence).","entity_name":"SHQ1","entity_type":"gene"},{"created":"2023-03-09T18:45:35.146651+11:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: SHQ1: Four unrelated families reported. Family 1: isolated dystonia only; Family 2: dystonia, and neurodegeneration; Family 3: neurodegeneration; now Family 4: paroxysmal dyskinesia and hypotonia.\r\n\r\nAll likely represent a spectrum but caution warranted.","entity_name":"SHQ1","entity_type":"gene"},{"created":"2023-03-09T18:44:32.378654+11:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SHQ1: Changed rating: AMBER; Changed publications: 36847845","entity_name":"SHQ1","entity_type":"gene"},{"created":"2023-03-09T18:43:29.498419+11:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SHQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with dystonia and seizures, MIM# 619922; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SHQ1","entity_type":"gene"},{"created":"2023-03-09T18:41:53.309356+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.708","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: YWHAZ as ready","entity_name":"YWHAZ","entity_type":"gene"},{"created":"2023-03-09T18:41:53.301412+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.708","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ywhaz has been classified as Red List (Low Evidence).","entity_name":"YWHAZ","entity_type":"gene"},{"created":"2023-03-09T18:28:34.541287+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.708","user_name":"Zornitza Stark","item_type":"entity","text":"gene: YWHAZ was added\ngene: YWHAZ was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: YWHAZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: YWHAZ were set to 36001342\nPhenotypes for gene: YWHAZ were set to Intellectual disability, MONDO:0001071\nReview for gene: YWHAZ was set to RED\nAdded comment: PMID:36001342 reported one large three-generation family with intellectual disability and global developmental delay, where all affected members were identified with a heterozygous missense variant (c.147A>T/ p.Lys49Asn) in YWHAZ gene. Although there were 10 other rare variants located in 10 genes (ARHGAP4, AGPS, APOL3, CES3, DACT2, ECH1, FAM71E2, KREMEN1, YWHAZ, ZFYVE26) that co-segregated with the ID/GDD phenotype were identified in the family, they were either not present in all affected members or present in unaffected members. In addition, computational modeling and knockdown/ knockin studies with Drosophila also confirmed the role of this YWHAZ variant in intellectual disability. \nSources: Literature","entity_name":"YWHAZ","entity_type":"gene"},{"created":"2023-03-09T18:28:16.713335+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5185","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: YWHAZ as ready","entity_name":"YWHAZ","entity_type":"gene"}]}