{"count":220423,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=2044","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=2042","results":[{"created":"2019-12-13T10:22:35.623713+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1391","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GNAI1 were set to ","entity_name":"GNAI1","entity_type":"gene"},{"created":"2019-12-13T10:22:25.682770+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1390","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GNAI1 were changed from  to Intellectual disability","entity_name":"GNAI1","entity_type":"gene"},{"created":"2019-12-13T10:22:09.958161+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1389","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GNAI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GNAI1","entity_type":"gene"},{"created":"2019-12-13T10:21:43.914092+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1388","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GNAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28135719; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GNAI1","entity_type":"gene"},{"created":"2019-12-12T20:48:41.942797+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.300","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAK1 as ready","entity_name":"PAK1","entity_type":"gene"},{"created":"2019-12-12T20:48:41.934079+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.300","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pak1 has been classified as Green List (High Evidence).","entity_name":"PAK1","entity_type":"gene"},{"created":"2019-12-12T20:48:32.614960+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.300","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PAK1 as Green List (high evidence)","entity_name":"PAK1","entity_type":"gene"},{"created":"2019-12-12T20:48:32.607715+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.300","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pak1 has been classified as Green List (High Evidence).","entity_name":"PAK1","entity_type":"gene"},{"created":"2019-12-12T20:48:12.581904+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.299","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PAK1 was added\ngene: PAK1 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PAK1 were set to 31504246; 30290153\nPhenotypes for gene: PAK1 were set to Intellectual developmental disorder with macrocephaly, seizures, and speech delay; OMIM #618158\nReview for gene: PAK1 was set to GREEN\nAdded comment: 2 unrelated individuals with de novo PAK1 mutations, with developmental delay, secondary macrocephaly, seizures, and ataxic gait. Enhanced phosphorylation of the PAK1 targets JNK and AKT shown in fibroblasts of one subject and of c-JUN in those of both subjects compared with control subjects. In fibroblasts of the 2 affected individuals, they observed a trend toward enhanced PAK1 kinase activity. By using co-immunoprecipitation and size-exclusion chromatography, they observed a significantly reduced dimerization for both PAK1 mutants compared with wild-type PAK1. \r\n\r\n4 unrelated individuals with intellectual disability, macrocephaly and seizures, with de novo heterozygous missense variants in PAK1. \nSources: Literature","entity_name":"PAK1","entity_type":"gene"},{"created":"2019-12-12T20:45:12.337892+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.298","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: P4HTM as ready","entity_name":"P4HTM","entity_type":"gene"},{"created":"2019-12-12T20:45:12.328402+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.298","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: p4htm has been classified as Green List (High Evidence).","entity_name":"P4HTM","entity_type":"gene"},{"created":"2019-12-12T20:44:57.166664+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.298","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: P4HTM as Green List (high evidence)","entity_name":"P4HTM","entity_type":"gene"},{"created":"2019-12-12T20:44:57.159487+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.298","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: p4htm has been classified as Green List (High Evidence).","entity_name":"P4HTM","entity_type":"gene"},{"created":"2019-12-12T20:44:38.206076+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.297","user_name":"Zornitza Stark","item_type":"entity","text":"gene: P4HTM was added\ngene: P4HTM was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: P4HTM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: P4HTM were set to 25078763; 30940925\nPhenotypes for gene: P4HTM were set to Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities; OMIM #618493\nReview for gene: P4HTM was set to GREEN\nAdded comment: 12 patients from 5 families with hypotonia, intellectual disability, and eye abnormalities, and homozygous or compound heterozygous pathogenic P4HTM gene variants. Segregated with the disorder in the families. In vitro functional expression studies of 3 of the P4HTM variants showed that they caused a significant decrease in the amount of soluble protein compared to wildtype. \nSources: Literature","entity_name":"P4HTM","entity_type":"gene"},{"created":"2019-12-12T20:40:59.483773+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.296","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NLGN1 as ready","entity_name":"NLGN1","entity_type":"gene"},{"created":"2019-12-12T20:40:59.476722+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.296","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nlgn1 has been classified as Red List (Low Evidence).","entity_name":"NLGN1","entity_type":"gene"},{"created":"2019-12-12T20:40:47.485868+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.296","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NLGN1 was added\ngene: NLGN1 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: NLGN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NLGN1 were set to 30460678\nPhenotypes for gene: NLGN1 were set to intellectual disability; autism\nReview for gene: NLGN1 was set to RED\nAdded comment: homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism. Segregated with disease. No functional studies. \nSources: Literature","entity_name":"NLGN1","entity_type":"gene"},{"created":"2019-12-12T20:38:14.877517+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1388","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NLGN1 as ready","entity_name":"NLGN1","entity_type":"gene"},{"created":"2019-12-12T20:38:14.870585+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1388","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nlgn1 has been classified as Red List (Low Evidence).","entity_name":"NLGN1","entity_type":"gene"},{"created":"2019-12-12T20:38:09.203037+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1388","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NLGN1 were changed from no OMIM number yet to Intellectual disability; autism; no OMIM number yet","entity_name":"NLGN1","entity_type":"gene"},{"created":"2019-12-12T20:35:02.282069+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.295","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NFASC as ready","entity_name":"NFASC","entity_type":"gene"},{"created":"2019-12-12T20:35:02.274230+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.295","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nfasc has been classified as Green List (High Evidence).","entity_name":"NFASC","entity_type":"gene"},{"created":"2019-12-12T20:34:52.187645+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.295","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NFASC as Green List (high evidence)","entity_name":"NFASC","entity_type":"gene"},{"created":"2019-12-12T20:34:52.180833+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.295","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nfasc has been classified as Green List (High Evidence).","entity_name":"NFASC","entity_type":"gene"},{"created":"2019-12-12T20:34:29.491848+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.294","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NFASC was added\ngene: NFASC was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: NFASC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NFASC were set to 31501903; 28940097; 30124836; 30850329; 31608123\nPhenotypes for gene: NFASC were set to Neurodevelopmental disorder with central and peripheral motor dysfunction; OMIM #618356\nReview for gene: NFASC was set to GREEN\nAdded comment: > 10 unrelated families reported, exhibiting a neurodevelopmental disorder (intellectual disability, developmental delay, motor impairment, speech difficulties, early onset demyelinating neuropathy), with homozygous variants in NFASC. Segregated with the disorder in the family. Some studies with functional evidence. \nSources: Literature","entity_name":"NFASC","entity_type":"gene"},{"created":"2019-12-12T20:31:18.721827+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NCAPD2 were changed from Microcephaly 21, primary, autosomal recessive; OMIM #617983 to Microcephaly 21, primary, autosomal recessive; OMIM #617983","entity_name":"NCAPD2","entity_type":"gene"},{"created":"2019-12-12T20:31:10.476532+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NCAPD2 as ready","entity_name":"NCAPD2","entity_type":"gene"},{"created":"2019-12-12T20:31:10.468253+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ncapd2 has been classified as Green List (High Evidence).","entity_name":"NCAPD2","entity_type":"gene"},{"created":"2019-12-12T20:31:01.899446+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NCAPD2 were changed from  to Microcephaly 21, primary, autosomal recessive; OMIM #617983","entity_name":"NCAPD2","entity_type":"gene"},{"created":"2019-12-12T20:30:41.854273+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NCAPD2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NCAPD2","entity_type":"gene"},{"created":"2019-12-12T20:30:24.758101+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NCAPD2 were set to ","entity_name":"NCAPD2","entity_type":"gene"},{"created":"2019-12-12T20:30:07.555335+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NCAPD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NCAPD2","entity_type":"gene"},{"created":"2019-12-12T20:29:35.097067+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NCAPD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31056748, 27737959, 28097321; Phenotypes: Microcephaly 21, primary, autosomal recessive, OMIM #617983; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NCAPD2","entity_type":"gene"},{"created":"2019-12-12T20:28:42.824487+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.293","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NCAPD2 as ready","entity_name":"NCAPD2","entity_type":"gene"},{"created":"2019-12-12T20:28:42.816950+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.293","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ncapd2 has been classified as Green List (High Evidence).","entity_name":"NCAPD2","entity_type":"gene"},{"created":"2019-12-12T20:28:34.518772+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.293","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NCAPD2 were changed from  to Microcephaly 21, primary, autosomal recessive; OMIM #617983","entity_name":"NCAPD2","entity_type":"gene"},{"created":"2019-12-12T20:28:19.652912+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.292","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NCAPD2 were set to ","entity_name":"NCAPD2","entity_type":"gene"},{"created":"2019-12-12T20:28:03.900170+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.291","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NCAPD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NCAPD2","entity_type":"gene"},{"created":"2019-12-12T20:27:40.902211+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.290","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NCAPD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31056748, 27737959, 28097321; Phenotypes: Microcephaly 21, primary, autosomal recessive, OMIM #617983; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NCAPD2","entity_type":"gene"},{"created":"2019-12-12T20:26:29.716423+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1387","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NCAPD2 as ready","entity_name":"NCAPD2","entity_type":"gene"},{"created":"2019-12-12T20:26:29.713318+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1387","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Three families, upgraded to Green.","entity_name":"NCAPD2","entity_type":"gene"},{"created":"2019-12-12T20:26:29.684159+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1387","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ncapd2 has been classified as Green List (High Evidence).","entity_name":"NCAPD2","entity_type":"gene"},{"created":"2019-12-12T20:26:11.304770+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1387","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NCAPD2 as Green List (high evidence)","entity_name":"NCAPD2","entity_type":"gene"},{"created":"2019-12-12T20:26:11.296326+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1387","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ncapd2 has been classified as Green List (High Evidence).","entity_name":"NCAPD2","entity_type":"gene"},{"created":"2019-12-12T20:24:14.209652+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.290","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MEPCE as ready","entity_name":"MEPCE","entity_type":"gene"},{"created":"2019-12-12T20:24:14.202875+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.290","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mepce has been classified as Red List (Low Evidence).","entity_name":"MEPCE","entity_type":"gene"},{"created":"2019-12-12T20:23:59.515209+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.290","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MEPCE was added\ngene: MEPCE was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: MEPCE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MEPCE were set to 31467394\nPhenotypes for gene: MEPCE were set to Intellectual disability; seizures\nReview for gene: MEPCE was set to RED\nAdded comment: 1 patient with global DD and seizures with de novo MEPCE nonsense variant. mRNA and protein analyses identified nonsense-mediated mRNA decay to underlie the decreased amount of MEPCE in patient fibroblasts followed by LARP7 and 7SK snRNA downregulation and HEXIM1 upregulation. Flavopiridol treatment and ectopic MEPCE protein expression in patient fibroblasts rescued increased expression of six RNAP II-sensitive genes and suggested a possible repressive effect of MEPCE on P-TEFb-dependent transcription of specific genes. \nSources: Literature","entity_name":"MEPCE","entity_type":"gene"},{"created":"2019-12-12T20:21:39.116762+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1386","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MEPCE as ready","entity_name":"MEPCE","entity_type":"gene"},{"created":"2019-12-12T20:21:39.109737+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1386","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mepce has been classified as Red List (Low Evidence).","entity_name":"MEPCE","entity_type":"gene"},{"created":"2019-12-12T20:21:34.372265+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1386","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MEPCE were changed from no OMIM number yet to Intellectual disability; seizures; no OMIM number yet","entity_name":"MEPCE","entity_type":"gene"},{"created":"2019-12-12T20:19:13.546399+11:00","panel_name":"Callosome_VCGS","panel_id":205,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAST1 as ready","entity_name":"MAST1","entity_type":"gene"},{"created":"2019-12-12T20:19:13.539629+11:00","panel_name":"Callosome_VCGS","panel_id":205,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mast1 has been classified as Green List (High Evidence).","entity_name":"MAST1","entity_type":"gene"},{"created":"2019-12-12T20:19:07.715441+11:00","panel_name":"Callosome_VCGS","panel_id":205,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAST1 as Green List (high evidence)","entity_name":"MAST1","entity_type":"gene"},{"created":"2019-12-12T20:19:07.706303+11:00","panel_name":"Callosome_VCGS","panel_id":205,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mast1 has been classified as Green List (High Evidence).","entity_name":"MAST1","entity_type":"gene"},{"created":"2019-12-12T20:18:39.906174+11:00","panel_name":"Callosome_VCGS","panel_id":205,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAST1 was added\ngene: MAST1 was added to Callosome_VCGS. Sources: Literature\nMode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAST1 were set to 31721002; 30449657\nPhenotypes for gene: MAST1 were set to Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations; OMIM #618273\nReview for gene: MAST1 was set to GREEN\nAdded comment: 6 unrelated patients with mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) with de novo heterozygous mutations in MAST1 gene. In vitro functional studies showed that 1 of the variants (lys276del) increased MAST1 binding to microtubules compared to controls. Mutant mice heterozygous for a Mast1 leu278del allele showed a thicker corpus callosum compared to wildtype, and an overall reduction in cortical volume and thickness and decreased cerebellar volume and number of granule and Purkinje cells due to increased apoptosis compared to controls. \r\n\r\n1 Emirati patient with ID, microcephaly, and dysmorphic features, with missense variant in MAST1. \nSources: Literature","entity_name":"MAST1","entity_type":"gene"},{"created":"2019-12-12T20:16:49.979564+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.289","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAST1 as ready","entity_name":"MAST1","entity_type":"gene"},{"created":"2019-12-12T20:16:49.972456+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.289","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mast1 has been classified as Green List (High Evidence).","entity_name":"MAST1","entity_type":"gene"},{"created":"2019-12-12T20:16:40.459807+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.289","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAST1 as Green List (high evidence)","entity_name":"MAST1","entity_type":"gene"},{"created":"2019-12-12T20:16:40.452906+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.289","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mast1 has been classified as Green List (High Evidence).","entity_name":"MAST1","entity_type":"gene"},{"created":"2019-12-12T20:16:21.077703+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAST1 was added\ngene: MAST1 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAST1 were set to 31721002; 30449657\nPhenotypes for gene: MAST1 were set to Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations; OMIM #618273\nReview for gene: MAST1 was set to GREEN\nAdded comment: 6 unrelated patients with mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) with de novo heterozygous mutations in MAST1 gene. In vitro functional studies showed that 1 of the variants (lys276del) increased MAST1 binding to microtubules compared to controls. Mutant mice heterozygous for a Mast1 leu278del allele showed a thicker corpus callosum compared to wildtype, and an overall reduction in cortical volume and thickness and decreased cerebellar volume and number of granule and Purkinje cells due to increased apoptosis compared to controls. \r\n\r\n1 Emirati patient with ID, microcephaly, and dysmorphic features, with missense variant in MAST1. \nSources: Literature","entity_name":"MAST1","entity_type":"gene"},{"created":"2019-12-12T20:01:12.800301+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.287","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MACROD2 as ready","entity_name":"MACROD2","entity_type":"gene"},{"created":"2019-12-12T20:01:12.793175+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.287","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: macrod2 has been classified as Red List (Low Evidence).","entity_name":"MACROD2","entity_type":"gene"},{"created":"2019-12-12T20:00:59.782864+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.287","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MACROD2 was added\ngene: MACROD2 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: MACROD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MACROD2 were set to 31055587\nPhenotypes for gene: MACROD2 were set to intellectual disability; dysmorphic features; microcephaly\nReview for gene: MACROD2 was set to RED\nAdded comment: 1 family with a few affected with microcephaly, ID, dysmorphic features, and polydactyly. Deletion of chromosome 20p12.1 involving the MACROD2 gene was found in several members of the family. qRT-PCR showed higher levels of a MACROD2 mRNA isoform in the individuals carrying the deletion. \nSources: Literature","entity_name":"MACROD2","entity_type":"gene"},{"created":"2019-12-12T19:56:52.773368+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.286","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LSS as ready","entity_name":"LSS","entity_type":"gene"},{"created":"2019-12-12T19:56:52.765234+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.286","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lss has been classified as Green List (High Evidence).","entity_name":"LSS","entity_type":"gene"},{"created":"2019-12-12T19:56:41.663427+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.286","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LSS as Green List (high evidence)","entity_name":"LSS","entity_type":"gene"},{"created":"2019-12-12T19:56:41.656603+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.286","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lss has been classified as Green List (High Evidence).","entity_name":"LSS","entity_type":"gene"},{"created":"2019-12-12T19:54:57.268233+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.285","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LSS was added\ngene: LSS was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LSS were set to 30723320\nPhenotypes for gene: LSS were set to Cataract 44, OMIM #616509; Hypotrichosis 14, OMIM #618275; Intellectual disability\nReview for gene: LSS was set to GREEN\nAdded comment: Expanded the phenotypic spectrum of LSS to a recessive neuroectodermal syndrome formerly named alopecia with mental retardation (APMR) syndrome. Ten APMR individuals from 6 unrelated families with biallelic variants in LSS. Quantification of cholesterol and its precursors did not reveal noticeable imbalance. \nSources: Literature","entity_name":"LSS","entity_type":"gene"},{"created":"2019-12-12T19:07:53.427687+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.284","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LSM1 as ready","entity_name":"LSM1","entity_type":"gene"},{"created":"2019-12-12T19:07:53.420506+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.284","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lsm1 has been classified as Red List (Low Evidence).","entity_name":"LSM1","entity_type":"gene"},{"created":"2019-12-12T19:07:40.328995+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.284","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LSM1 was added\ngene: LSM1 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: LSM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LSM1 were set to 31010896\nPhenotypes for gene: LSM1 were set to intellectual disability; congenital abnormalities\nReview for gene: LSM1 was set to RED\nAdded comment: 1 family with 2 siblings with global DD, multiple congenital anomalies, and abnormal eye movements, with homozygous splice variant in LSM1. Segregated with the phenotype in the family. Expression studies revealed absence of expression of the canonical isoform in the affected individuals. The Lsm1 knockout mice have a partially overlapping phenotype that affects the brain, heart, and eye. \nSources: Literature","entity_name":"LSM1","entity_type":"gene"},{"created":"2019-12-12T18:43:38.218000+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.283","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LMAN2L as ready","entity_name":"LMAN2L","entity_type":"gene"},{"created":"2019-12-12T18:43:38.211315+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.283","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lman2l has been classified as Amber List (Moderate Evidence).","entity_name":"LMAN2L","entity_type":"gene"},{"created":"2019-12-12T18:43:16.032860+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.283","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LMAN2L as Amber List (moderate evidence)","entity_name":"LMAN2L","entity_type":"gene"},{"created":"2019-12-12T18:43:16.025582+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.283","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lman2l has been classified as Amber List (Moderate Evidence).","entity_name":"LMAN2L","entity_type":"gene"},{"created":"2019-12-12T18:42:45.568646+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.282","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LMAN2L was added\ngene: LMAN2L was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: LMAN2L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: LMAN2L were set to 31020005; 26566883\nPhenotypes for gene: LMAN2L were set to Mental retardation, autosomal recessive, 52; OMIM #616887\nReview for gene: LMAN2L was set to AMBER\nAdded comment: 1 consanguineous family with 7 individuals with ID and epilepsy, with homozygous LMAN2L missense mutation. Segregated with disease in family, and unaffected family members were heterozygous variant carriers. No functional studies.\r\n\r\n1 non-consanguineous family with 4 affected with heterozygous frameshift LMAN2L mutation. Segregates in family. Mutation eliminates LMAN2L's endoplasmic reticulum retention signal and mislocalizes the protein from that compartment to the plasma membrane. \nSources: Literature","entity_name":"LMAN2L","entity_type":"gene"},{"created":"2019-12-12T18:40:33.813478+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1385","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LMAN2L as ready","entity_name":"LMAN2L","entity_type":"gene"},{"created":"2019-12-12T18:40:33.804030+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1385","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lman2l has been classified as Amber List (Moderate Evidence).","entity_name":"LMAN2L","entity_type":"gene"},{"created":"2019-12-12T18:39:25.907938+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.281","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KDM3B was added\ngene: KDM3B was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KDM3B were set to 30929739\nPhenotypes for gene: KDM3B were set to Intellectual disability; dysmorphic features; short stature\nReview for gene: KDM3B was set to GREEN\nAdded comment: 14 unrelated individuals and 3 affected parents with varying degrees of ID, DD, short stature, dysmorphism, and de novo or inherited pathogenic variants in KDM3B. No functional studies. \nSources: Literature","entity_name":"KDM3B","entity_type":"gene"},{"created":"2019-12-12T18:37:06.616720+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1385","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KDM3B were changed from no OMIM number yet to Intellectual disability; dysmorphic features; short stature; no OMIM number yet","entity_name":"KDM3B","entity_type":"gene"},{"created":"2019-12-12T17:23:26.939203+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1384","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GTF2E2 as ready","entity_name":"GTF2E2","entity_type":"gene"},{"created":"2019-12-12T17:23:26.936174+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1384","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Two unrelated families with functional data, upgrade to Green.","entity_name":"GTF2E2","entity_type":"gene"},{"created":"2019-12-12T17:23:26.909605+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1384","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gtf2e2 has been classified as Green List (High Evidence).","entity_name":"GTF2E2","entity_type":"gene"},{"created":"2019-12-12T17:23:12.282978+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1384","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GTF2E2 as Green List (high evidence)","entity_name":"GTF2E2","entity_type":"gene"},{"created":"2019-12-12T17:23:12.276160+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1384","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gtf2e2 has been classified as Green List (High Evidence).","entity_name":"GTF2E2","entity_type":"gene"},{"created":"2019-12-12T17:21:57.823918+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GRIA2 as ready","entity_name":"GRIA2","entity_type":"gene"},{"created":"2019-12-12T17:21:57.816434+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gria2 has been classified as Green List (High Evidence).","entity_name":"GRIA2","entity_type":"gene"},{"created":"2019-12-12T17:21:53.020233+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GRIA2 as Green List (high evidence)","entity_name":"GRIA2","entity_type":"gene"},{"created":"2019-12-12T17:21:53.013440+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gria2 has been classified as Green List (High Evidence).","entity_name":"GRIA2","entity_type":"gene"},{"created":"2019-12-12T17:21:25.581366+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GRIA2 was added\ngene: GRIA2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature\nMode of inheritance for gene: GRIA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GRIA2 were set to 31300657\nPhenotypes for gene: GRIA2 were set to Intellectual disability; autism; Rett-like features; epileptic encephalopathy\nReview for gene: GRIA2 was set to GREEN\nAdded comment: 28 unrelated patients with ID, ASD, Rett-like features, seizures/EE, and de novo heterozygous GRIA2 mutations. In functional expression studies, mutations led to a decrease in agonist-evoked current mediated by mutant subunits compared to wild-type channels. When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltage rectification. \nSources: Literature","entity_name":"GRIA2","entity_type":"gene"},{"created":"2019-12-12T17:20:04.340118+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.280","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GRIA2 as ready","entity_name":"GRIA2","entity_type":"gene"},{"created":"2019-12-12T17:20:04.333205+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.280","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gria2 has been classified as Green List (High Evidence).","entity_name":"GRIA2","entity_type":"gene"},{"created":"2019-12-12T17:19:52.903203+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.280","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GRIA2 as Green List (high evidence)","entity_name":"GRIA2","entity_type":"gene"},{"created":"2019-12-12T17:19:52.896113+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.280","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gria2 has been classified as Green List (High Evidence).","entity_name":"GRIA2","entity_type":"gene"},{"created":"2019-12-12T17:19:33.199919+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GRIA2 was added\ngene: GRIA2 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: GRIA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GRIA2 were set to 31300657\nPhenotypes for gene: GRIA2 were set to Intellectual disability; autism; Rett-like features; epileptic encephalopathy\nReview for gene: GRIA2 was set to GREEN\nAdded comment: 28 unrelated patients with ID, ASD, Rett-like features, seizures/EE, and de novo heterozygous GRIA2 mutations. In functional expression studies, mutations led to a decrease in agonist-evoked current mediated by mutant subunits compared to wild-type channels. When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltage rectification. \nSources: Literature","entity_name":"GRIA2","entity_type":"gene"},{"created":"2019-12-12T17:15:55.704866+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADGRG6 as ready","entity_name":"ADGRG6","entity_type":"gene"},{"created":"2019-12-12T17:15:55.701799+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: 1 family with 2 patients with profound ID, severe speech impairment, microcephaly, seizures, spasticity, and cerebellar hypoplasia, with homozygous missense variation in ADGRG6 (GPR126). No functional studies.","entity_name":"ADGRG6","entity_type":"gene"},{"created":"2019-12-12T17:15:55.675330+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adgrg6 has been classified as Red List (Low Evidence).","entity_name":"ADGRG6","entity_type":"gene"},{"created":"2019-12-12T17:15:34.067155+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADGRG6 were changed from  to Lethal congenital contracture syndrome 9; OMIM #616503","entity_name":"ADGRG6","entity_type":"gene"},{"created":"2019-12-12T17:15:16.891847+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.277","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADGRG6 were set to ","entity_name":"ADGRG6","entity_type":"gene"}]}