{"count":220212,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1396","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1394","results":[{"created":"2021-03-05T09:55:31.901897+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EN1 was added\ngene: EN1 was added to Skeletal dysplasia. Sources: Literature\nSV/CNV, 5'UTR tags were added to gene: EN1.\nMode of inheritance for gene: EN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EN1 were set to 33568816\nPhenotypes for gene: EN1 were set to ENDOVE syndrome, limb-only type, MIM#\t619217\nReview for gene: EN1 was set to GREEN\nAdded comment: Three unrelated families reported (though two shown to be related by descent) with predominantly a skeletal phenotype comprising mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. This was accompanied by abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies were observed in some.\r\n\r\nHomozygous deletions identified in all, with the minimal deleted region being a 27-kb interval (chr2: 118,561,492-118,589,320) located approximately 300 kb upstream of the EN1 gene.\r\n\r\nMouse model recapitulated the phenotype. \nSources: Literature","entity_name":"EN1","entity_type":"gene"},{"created":"2021-03-05T09:46:07.100369+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EEF2 as ready","entity_name":"EEF2","entity_type":"gene"},{"created":"2021-03-05T09:46:07.092760+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eef2 has been classified as Green List (High Evidence).","entity_name":"EEF2","entity_type":"gene"},{"created":"2021-03-05T09:46:02.763034+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EEF2 as Green List (high evidence)","entity_name":"EEF2","entity_type":"gene"},{"created":"2021-03-05T09:46:02.752268+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eef2 has been classified as Green List (High Evidence).","entity_name":"EEF2","entity_type":"gene"},{"created":"2021-03-05T09:45:30.321987+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EEF2 was added\ngene: EEF2 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature\nMode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EEF2 were set to 33355653\nPhenotypes for gene: EEF2 were set to Neurodevelopmental disorder; macrocephaly; hydrocephalus\nReview for gene: EEF2 was set to GREEN\nAdded comment: De novo EEF2 missense variants reported in 3 unrelated children (3, 6 and 9 years of age) with a mild neurodevelopmental phenotype comprising motor delay and relative macrocephaly associated with ventriculomegaly. \nSources: Literature","entity_name":"EEF2","entity_type":"gene"},{"created":"2021-03-05T09:43:47.479528+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EEF2 as ready","entity_name":"EEF2","entity_type":"gene"},{"created":"2021-03-05T09:43:47.467806+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eef2 has been classified as Green List (High Evidence).","entity_name":"EEF2","entity_type":"gene"},{"created":"2021-03-05T09:43:41.300206+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EEF2 as Green List (high evidence)","entity_name":"EEF2","entity_type":"gene"},{"created":"2021-03-05T09:43:41.292657+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eef2 has been classified as Green List (High Evidence).","entity_name":"EEF2","entity_type":"gene"},{"created":"2021-03-05T09:43:07.981662+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EEF2 was added\ngene: EEF2 was added to Macrocephaly_Megalencephaly. Sources: Literature\nMode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EEF2 were set to 33355653\nPhenotypes for gene: EEF2 were set to Neurodevelopmental disorder; macrocephaly; hydrocephalus\nReview for gene: EEF2 was set to GREEN\nAdded comment: De novo EEF2 missense variants reported in 3 unrelated children (3, 6 and 9 years of age) with a mild neurodevelopmental phenotype comprising motor delay and relative macrocephaly associated with ventriculomegaly. \nSources: Literature","entity_name":"EEF2","entity_type":"gene"},{"created":"2021-03-05T09:41:05.023801+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3481","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EEF2 as ready","entity_name":"EEF2","entity_type":"gene"},{"created":"2021-03-05T09:41:05.010208+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3481","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eef2 has been classified as Green List (High Evidence).","entity_name":"EEF2","entity_type":"gene"},{"created":"2021-03-05T09:40:59.487482+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3481","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EEF2 as Green List (high evidence)","entity_name":"EEF2","entity_type":"gene"},{"created":"2021-03-05T09:40:59.476949+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3481","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eef2 has been classified as Green List (High Evidence).","entity_name":"EEF2","entity_type":"gene"},{"created":"2021-03-05T09:40:27.597311+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3480","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EEF2 was added\ngene: EEF2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EEF2 were set to 33355653\nPhenotypes for gene: EEF2 were set to Neurodevelopmental disorder; macrocephaly; hydrocephalus\nReview for gene: EEF2 was set to GREEN\nAdded comment: De novo EEF2 missense variants reported in 3 unrelated children (3, 6 and 9 years of age) with a mild neurodevelopmental phenotype comprising motor delay and relative macrocephaly associated with ventriculomegaly. \nSources: Literature","entity_name":"EEF2","entity_type":"gene"},{"created":"2021-03-05T09:38:04.593348+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.240","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Single family reported.; to: Single family reported, adult onset disorder.","entity_name":"EEF2","entity_type":"gene"},{"created":"2021-03-05T09:37:47.392088+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6565","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EEF2 were changed from Neurodevelopmental disorder; macrocephaly; hydrocephalus; Spinocerebellar ataxia 26, MIM#609306 to Neurodevelopmental disorder, macrocephaly, hydrocephalus; Spinocerebellar ataxia 26, MIM#609306","entity_name":"EEF2","entity_type":"gene"},{"created":"2021-03-05T09:37:25.395857+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6564","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EEF2 were changed from Neurodevelopmental disorder, hydrocephalus; Spinocerebellar ataxia 26, MIM#609306 to Neurodevelopmental disorder; macrocephaly; hydrocephalus; Spinocerebellar ataxia 26, MIM#609306","entity_name":"EEF2","entity_type":"gene"},{"created":"2021-03-05T09:36:57.366662+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6563","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: EEF2: Added comment: Phenotype reported in PMID 33355653 is distinct from the adult-onset SCA reported in PMID: 23001565. Evidence for association with SCA remains limited.; Changed rating: GREEN; Changed publications: 33355653; Changed phenotypes: Neurodevelopmental disorder, macrocephaly, hydrocephalus","entity_name":"EEF2","entity_type":"gene"},{"created":"2021-03-05T09:35:29.185567+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6563","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EEF2 were changed from Spinocerebellar ataxia 26, MIM#609306 to Neurodevelopmental disorder, hydrocephalus; Spinocerebellar ataxia 26, MIM#609306","entity_name":"EEF2","entity_type":"gene"},{"created":"2021-03-05T09:33:13.413809+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6562","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EEF2 were changed from Spinocerebellar ataxia 26 to Spinocerebellar ataxia 26, MIM#609306","entity_name":"EEF2","entity_type":"gene"},{"created":"2021-03-05T09:32:47.652829+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6561","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EEF2 were set to 15732118; 23001565","entity_name":"EEF2","entity_type":"gene"},{"created":"2021-03-05T09:31:59.385633+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6560","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EEF2 as Green List (high evidence)","entity_name":"EEF2","entity_type":"gene"},{"created":"2021-03-05T09:31:59.359445+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6560","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eef2 has been classified as Green List (High Evidence).","entity_name":"EEF2","entity_type":"gene"},{"created":"2021-03-05T09:30:23.690701+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6559","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MKRN3 as ready","entity_name":"MKRN3","entity_type":"gene"},{"created":"2021-03-05T09:30:23.682208+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6559","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mkrn3 has been classified as Green List (High Evidence).","entity_name":"MKRN3","entity_type":"gene"},{"created":"2021-03-05T09:30:16.390545+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6559","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MKRN3 were changed from  to Precocious puberty, central, 2, MIM# 615346","entity_name":"MKRN3","entity_type":"gene"},{"created":"2021-03-05T09:29:56.508463+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6558","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MKRN3 were set to ","entity_name":"MKRN3","entity_type":"gene"},{"created":"2021-03-05T09:29:37.006286+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6557","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MKRN3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MKRN3","entity_type":"gene"},{"created":"2021-03-05T09:29:18.271469+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6556","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: MKRN3.\nTag 5'UTR tag was added to gene: MKRN3.","entity_name":"MKRN3","entity_type":"gene"},{"created":"2021-03-05T09:29:06.242156+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: MKRN3.\nTag 5'UTR tag was added to gene: MKRN3.","entity_name":"MKRN3","entity_type":"gene"},{"created":"2021-03-05T09:28:49.422710+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6556","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MKRN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31687022, 31041429, 31636607, 32480405; Phenotypes: Precocious puberty, central, 2, MIM# 615346; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MKRN3","entity_type":"gene"},{"created":"2021-03-05T09:27:40.885521+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MKRN3 were changed from central precocious puberty to Precocious puberty, central, 2, MIM#\t615346","entity_name":"MKRN3","entity_type":"gene"},{"created":"2021-03-05T09:27:12.034770+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MKRN3 as Green List (high evidence)","entity_name":"MKRN3","entity_type":"gene"},{"created":"2021-03-05T09:27:12.024755+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mkrn3 has been classified as Green List (High Evidence).","entity_name":"MKRN3","entity_type":"gene"},{"created":"2021-03-05T09:25:46.800758+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6556","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACSL5 as ready","entity_name":"ACSL5","entity_type":"gene"},{"created":"2021-03-05T09:25:46.792992+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6556","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acsl5 has been classified as Red List (Low Evidence).","entity_name":"ACSL5","entity_type":"gene"},{"created":"2021-03-05T09:25:36.362827+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6556","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACSL5 was added\ngene: ACSL5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ACSL5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACSL5 were set to 33191500\nPhenotypes for gene: ACSL5 were set to severe FTT (no OMIM #)\nReview for gene: ACSL5 was set to RED\nAdded comment: 6 individuals of a large consanguineous family presented in the neonatal period with recurrent vomiting and diarrhea, leading to severe FTT. Autozygosity mapping and WES identified homozygous variant (c.1358C>A:p.(Thr453Lys) in ACSL5. Segregated with affected individuals. Functional in vitro analysis of the ACSL5 variant by immunofluorescence, western blotting and enzyme assay suggested that Thr453Lys is a loss‐of‐function mutation without any remaining activity. Affected individuals were treated with total parenteral nutrition or medium‐chain triglyceride‐based formula restricted in long‐chain triglycerides. They responded well and follow up suggests that treatment is only required during early life. \nSources: Literature","entity_name":"ACSL5","entity_type":"gene"},{"created":"2021-03-05T09:23:29.047504+11:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACSL5 as ready","entity_name":"ACSL5","entity_type":"gene"},{"created":"2021-03-05T09:23:29.037223+11:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acsl5 has been classified as Red List (Low Evidence).","entity_name":"ACSL5","entity_type":"gene"},{"created":"2021-03-05T09:21:17.717386+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6555","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GDF5 as ready","entity_name":"GDF5","entity_type":"gene"},{"created":"2021-03-05T09:21:17.706129+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6555","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gdf5 has been classified as Green List (High Evidence).","entity_name":"GDF5","entity_type":"gene"},{"created":"2021-03-05T09:21:09.630180+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6555","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GDF5 were changed from  to Type A1C brachydactyly (MIM#615072); Type A2 brachydactyly, (MIM#112600); Type C brachydactyly (MIM#113100); Grebe type chondrodysplasia (MIM#200700); Du Pan syndrome (MIM#228900); Multiple synostoses syndrome 2 (MIM#610017); Proximal Symphalangism 1B (MIM#615298)","entity_name":"GDF5","entity_type":"gene"},{"created":"2021-03-05T09:20:34.889801+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6554","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GDF5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Type A1C brachydactyly (MIM#615072), Type A2 brachydactyly, (MIM#112600), Type C brachydactyly (MIM#113100), Grebe type chondrodysplasia (MIM#200700), Du Pan syndrome (MIM#228900), Multiple synostoses syndrome 2 (MIM#610017), Proximal Symphalangism 1B (MIM#615298); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"GDF5","entity_type":"gene"},{"created":"2021-03-05T09:19:51.864919+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GDF5 were changed from  to Grebe type chondrodysplasia (MIM#200700); Du Pan syndrome (MIM#228900)","entity_name":"GDF5","entity_type":"gene"},{"created":"2021-03-05T09:19:20.444768+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GDF5 were set to ","entity_name":"GDF5","entity_type":"gene"},{"created":"2021-03-05T09:18:52.536472+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: GDF5 was changed from  to Other","entity_name":"GDF5","entity_type":"gene"},{"created":"2021-03-05T09:18:20.126807+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GDF5 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"GDF5","entity_type":"gene"},{"created":"2021-03-05T09:17:48.586825+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GDF5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33333243; Phenotypes: Grebe type chondrodysplasia (MIM#200700), Du Pan syndrome (MIM#228900); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"GDF5","entity_type":"gene"},{"created":"2021-03-05T09:09:59.026224+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6554","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GDF5 were set to ","entity_name":"GDF5","entity_type":"gene"},{"created":"2021-03-05T09:09:36.534781+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6553","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GDF5 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"GDF5","entity_type":"gene"},{"created":"2021-03-05T09:05:46.134613+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KIDINS220 were set to ","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-03-05T09:05:13.750806+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KIDINS220: Changed publications: 33205811, 28934391, 28934391","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-03-05T09:04:52.285696+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.254","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIDINS220 as ready","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-03-05T09:04:52.275059+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.254","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kidins220 has been classified as Amber List (Moderate Evidence).","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-03-05T09:04:37.611379+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.254","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIDINS220 as Amber List (moderate evidence)","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-03-05T09:04:37.601366+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.254","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kidins220 has been classified as Amber List (Moderate Evidence).","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-03-05T09:04:01.954814+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.253","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KIDINS220 was added\ngene: KIDINS220 was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: KIDINS220 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIDINS220 were set to 33205811; 28934391; 28934391\nPhenotypes for gene: KIDINS220 were set to cerebral ventriculomegaly; limb contractures\nReview for gene: KIDINS220 was set to AMBER\nAdded comment: 2 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap:\r\n\r\nPMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation.\r\n\r\nPMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein.\r\n\r\nPMID: 28934391 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.\r\n\r\nNote mono-allelic variants are associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296. \nSources: Literature","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-03-05T06:15:20.539515+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6552","user_name":"Eleanor Williams","item_type":"entity","text":"reviewed gene: EEF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23001565, 33355653; Phenotypes: Spinocerebellar ataxia 26 MIM#609306; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"EEF2","entity_type":"gene"},{"created":"2021-03-04T17:54:27.442557+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIDINS220 as ready","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-03-04T17:54:27.431335+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kidins220 has been classified as Amber List (Moderate Evidence).","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-03-04T17:54:22.064771+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIDINS220 as Amber List (moderate evidence)","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-03-04T17:54:22.057188+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kidins220 has been classified as Amber List (Moderate Evidence).","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-03-04T17:53:52.633341+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KIDINS220 was added\ngene: KIDINS220 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature\nMode of inheritance for gene: KIDINS220 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KIDINS220 were set to cerebral ventriculomegaly; limb contractures\nReview for gene: KIDINS220 was set to AMBER\nAdded comment: 2 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap: PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation. PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein. PMID: 28934391 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.\r\n\r\nNote mono-allelic variants are associated with ID/spastic paraplegia. \nSources: Literature","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-03-04T17:51:57.740715+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6552","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIDINS220 as ready","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-03-04T17:51:57.729707+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6552","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kidins220 has been classified as Green List (High Evidence).","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-03-04T17:51:44.091227+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6552","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIDINS220 were changed from  to Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296; cerebral ventriculomegaly; limb contractures","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-03-04T17:51:10.175146+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6551","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KIDINS220 were set to ","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-03-04T17:50:42.015359+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6550","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KIDINS220 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-03-04T17:50:12.066594+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6549","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: None; Publications: 27005418; Phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-03-04T16:53:33.420210+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6549","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYO15A were changed from Deafness, autosomal recessive 3, MIM# 600316 to Deafness, autosomal recessive 3, MIM# 600316; autosomal recessive nonsyndromic deafness 3 MONDO:0010860","entity_name":"MYO15A","entity_type":"gene"},{"created":"2021-03-04T16:53:10.026975+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6548","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYO15A were set to 27375115; 26226137; 23208854; 19309289; 9603735; 10915760","entity_name":"MYO15A","entity_type":"gene"},{"created":"2021-03-04T16:52:19.758253+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.56","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYO3A were changed from Deafness, autosomal recessive 30, MIM# 607101 to Deafness, autosomal recessive 30, MIM# 607101; dominant deafness","entity_name":"MYO3A","entity_type":"gene"},{"created":"2021-03-04T16:51:47.113121+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.55","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYO3A were set to 21165622; 26754646; 23990876","entity_name":"MYO3A","entity_type":"gene"},{"created":"2021-03-04T16:51:07.101509+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.54","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MYO3A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MYO3A","entity_type":"gene"},{"created":"2021-03-04T16:50:37.627768+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.53","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Multiple families and animal model data.; to: Multiple families and animal model data support association of bi-allelic variants and deafness.\r\n\r\nVariants in this gene has also been associated with autosomal dominant hearing loss in an African American family (PMID: 26841241 Grati et al 2016) and 2 large, remotely-related Brazilian families (PMID: 29880844 - Dantas et al 2018, same variant reported in the 2 families): association of mono-allelic variants with deafness is limited/moderate.","entity_name":"MYO3A","entity_type":"gene"},{"created":"2021-03-04T16:49:35.345329+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.53","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MYO3A: Changed publications: 21165622, 26754646, 23990876, 33078831, 26841241, 29880844; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MYO3A","entity_type":"gene"},{"created":"2021-03-04T16:49:25.928806+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6547","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYO3A were changed from  to Deafness, autosomal recessive 30 OMIM:607101; autosomal recessive nonsyndromic deafness 30 MONDO:0011774; dominant deafness","entity_name":"MYO3A","entity_type":"gene"},{"created":"2021-03-04T16:48:36.723767+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6546","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYO3A were set to ","entity_name":"MYO3A","entity_type":"gene"},{"created":"2021-03-04T16:48:08.471737+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6545","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MYO3A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MYO3A","entity_type":"gene"},{"created":"2021-03-04T16:47:31.179396+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6544","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MYO3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 21165622, 26754646, 23990876; Phenotypes: Deafness, autosomal recessive 30, MIM# 607101; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MYO3A","entity_type":"gene"},{"created":"2021-03-04T16:43:46.914228+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6544","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL9A3 as ready","entity_name":"COL9A3","entity_type":"gene"},{"created":"2021-03-04T16:43:46.902699+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6544","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":"2021-03-04T16:43:22.291100+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6544","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL9A3 were changed from  to Epiphyseal dysplasia, multiple, 3, with or without myopathy, MIM# 600969; Stickler syndrome; Deafness","entity_name":"COL9A3","entity_type":"gene"},{"created":"2021-03-04T16:40:33.753152+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6543","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COL9A3 were set to ","entity_name":"COL9A3","entity_type":"gene"},{"created":"2021-03-04T16:39:43.172893+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6542","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COL9A3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"COL9A3","entity_type":"gene"},{"created":"2021-03-04T16:39:21.236349+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6541","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COL9A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30450842, 31090205, 24273071, 10090888, 15551337; Phenotypes: Epiphyseal dysplasia, multiple, 3, with or without myopathy, MIM# 600969, Stickler syndrome, Deafness; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"COL9A3","entity_type":"gene"},{"created":"2021-03-04T16:30:31.187353+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6541","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DLK1 as ready","entity_name":"DLK1","entity_type":"gene"},{"created":"2021-03-04T16:30:31.178898+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6541","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dlk1 has been classified as Green List (High Evidence).","entity_name":"DLK1","entity_type":"gene"},{"created":"2021-03-04T16:30:22.106547+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6541","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DLK1 as Green List (high evidence)","entity_name":"DLK1","entity_type":"gene"},{"created":"2021-03-04T16:30:22.096791+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6541","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dlk1 has been classified as Green List (High Evidence).","entity_name":"DLK1","entity_type":"gene"},{"created":"2021-03-04T16:30:00.151272+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DLK1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)","entity_name":"DLK1","entity_type":"gene"},{"created":"2021-03-04T16:29:57.067732+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6540","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DLK1 was added\ngene: DLK1 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: DLK1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)\nPublications for gene: DLK1 were set to 28324015; 30462238\nPhenotypes for gene: DLK1 were set to central precocious puberty\nReview for gene: DLK1 was set to GREEN\nAdded comment: PMID: 30462238 \"three frameshift mutations of DLK1 (p.Gly199Alafs*11, p.Val271Cysfs*14, and p.Pro160Leufs*50) in five women from three families with CPP. Segregation analysis was consistent with the maternal imprinting of DLK1\". PMID: 28324015 single large family, only affected females, central precocious puberty all carrying paternally inherited LOF variant (del/dup of 5'UTR and exon 1) absent DLK1 expression in all affected. Unclear if males affected as none reported to date. \nSources: Expert Review","entity_name":"DLK1","entity_type":"gene"},{"created":"2021-03-04T16:28:10.877959+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DLK1 as ready","entity_name":"DLK1","entity_type":"gene"},{"created":"2021-03-04T16:28:10.870136+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dlk1 has been classified as Green List (High Evidence).","entity_name":"DLK1","entity_type":"gene"},{"created":"2021-03-04T16:28:05.266311+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DLK1 were changed from  to central precocious puberty","entity_name":"DLK1","entity_type":"gene"},{"created":"2021-03-04T16:27:35.157566+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.199","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DLK1 were set to ","entity_name":"DLK1","entity_type":"gene"},{"created":"2021-03-04T16:27:03.082146+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.198","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DLK1 as Green List (high evidence)","entity_name":"DLK1","entity_type":"gene"},{"created":"2021-03-04T16:27:03.074184+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.198","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dlk1 has been classified as Green List (High Evidence).","entity_name":"DLK1","entity_type":"gene"}]}