{"count":221413,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1818","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1816","results":[{"created":"2020-04-27T22:22:26.941085+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptf1a has been classified as Green List (High Evidence).","entity_name":"PTF1A","entity_type":"gene"},{"created":"2020-04-27T22:21:38.294518+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PTF1A as Green List (high evidence)","entity_name":"PTF1A","entity_type":"gene"},{"created":"2020-04-27T22:21:38.286078+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptf1a has been classified as Green List (High Evidence).","entity_name":"PTF1A","entity_type":"gene"},{"created":"2020-04-27T22:21:09.535508+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PTF1A was added\ngene: PTF1A was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list\nMode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTF1A were set to 21749365; 10507728; 15543146; 19650412\nPhenotypes for gene: PTF1A were set to Pancreatic and cerebellar agenesis, MIM#\t609069\nReview for gene: PTF1A was set to GREEN\nAdded comment: At least three unrelated families reported. \nSources: Expert list","entity_name":"PTF1A","entity_type":"gene"},{"created":"2020-04-27T21:47:29.152789+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAST1 as ready","entity_name":"MAST1","entity_type":"gene"},{"created":"2020-04-27T21:47:29.143960+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.106","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":"2020-04-27T21:47:25.042521+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAST1 as Green List (high evidence)","entity_name":"MAST1","entity_type":"gene"},{"created":"2020-04-27T21:47:25.030803+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.106","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":"2020-04-27T21:46:54.207129+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAST1 was added\ngene: MAST1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list\nMode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAST1 were set to 30449657\nPhenotypes for gene: MAST1 were set to Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, MIM#\t618273\nReview for gene: MAST1 was set to GREEN\nAdded comment: Six unrelated individuals with de novo variants in this gene and a mouse model. \nSources: Expert list","entity_name":"MAST1","entity_type":"gene"},{"created":"2020-04-27T21:44:41.896742+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2645","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PI4KA as ready","entity_name":"PI4KA","entity_type":"gene"},{"created":"2020-04-27T21:44:41.887754+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2645","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pi4ka has been classified as Amber List (Moderate Evidence).","entity_name":"PI4KA","entity_type":"gene"},{"created":"2020-04-27T21:44:32.935293+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2645","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PI4KA were changed from  to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531","entity_name":"PI4KA","entity_type":"gene"},{"created":"2020-04-27T21:44:12.323756+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2644","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PI4KA were set to ","entity_name":"PI4KA","entity_type":"gene"},{"created":"2020-04-27T21:43:45.664322+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2643","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PI4KA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PI4KA","entity_type":"gene"},{"created":"2020-04-27T21:43:25.608090+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2642","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PI4KA as Amber List (moderate evidence)","entity_name":"PI4KA","entity_type":"gene"},{"created":"2020-04-27T21:43:25.599818+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2642","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pi4ka has been classified as Amber List (Moderate Evidence).","entity_name":"PI4KA","entity_type":"gene"},{"created":"2020-04-27T21:43:05.656328+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2641","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PI4KA: Rating: AMBER; Mode of pathogenicity: None; Publications: 25855803; Phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PI4KA","entity_type":"gene"},{"created":"2020-04-27T21:41:53.075116+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PI4KA as ready","entity_name":"PI4KA","entity_type":"gene"},{"created":"2020-04-27T21:41:53.066498+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pi4ka has been classified as Amber List (Moderate Evidence).","entity_name":"PI4KA","entity_type":"gene"},{"created":"2020-04-27T21:41:48.690161+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PI4KA were changed from  to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531","entity_name":"PI4KA","entity_type":"gene"},{"created":"2020-04-27T21:41:25.869205+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PI4KA were set to ","entity_name":"PI4KA","entity_type":"gene"},{"created":"2020-04-27T21:40:21.108063+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PI4KA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PI4KA","entity_type":"gene"},{"created":"2020-04-27T21:39:58.677158+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PI4KA as Amber List (moderate evidence)","entity_name":"PI4KA","entity_type":"gene"},{"created":"2020-04-27T21:39:58.668589+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pi4ka has been classified as Amber List (Moderate Evidence).","entity_name":"PI4KA","entity_type":"gene"},{"created":"2020-04-27T21:39:26.190328+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PI4KA: Rating: AMBER; Mode of pathogenicity: None; Publications: 25855803; Phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PI4KA","entity_type":"gene"},{"created":"2020-04-27T21:37:41.387429+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PI4KA as ready","entity_name":"PI4KA","entity_type":"gene"},{"created":"2020-04-27T21:37:41.378362+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pi4ka has been classified as Amber List (Moderate Evidence).","entity_name":"PI4KA","entity_type":"gene"},{"created":"2020-04-27T21:37:37.291048+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PI4KA as Amber List (moderate evidence)","entity_name":"PI4KA","entity_type":"gene"},{"created":"2020-04-27T21:37:37.281982+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pi4ka has been classified as Amber List (Moderate Evidence).","entity_name":"PI4KA","entity_type":"gene"},{"created":"2020-04-27T21:37:06.002375+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PI4KA was added\ngene: PI4KA was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list\nMode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PI4KA were set to 25855803\nPhenotypes for gene: PI4KA were set to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM#\t616531\nReview for gene: PI4KA was set to AMBER\nAdded comment: Single family reported, aware of at least one other yet to be published family identified internally. \nSources: Expert list","entity_name":"PI4KA","entity_type":"gene"},{"created":"2020-04-27T21:33:59.506596+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2641","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Single consanguineous family with multiple affected individuals reported.; to: Single consanguineous family with multiple affected individuals reported.","entity_name":"CDK5","entity_type":"gene"},{"created":"2020-04-27T21:33:41.826318+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Single consanguineous family with multiple affected individuals reported, lishencephaly prominent. \nSources: Expert list; to: Single consanguineous family with multiple affected individuals reported, lissencephaly prominent. \r\nSources: Expert list","entity_name":"CDK5","entity_type":"gene"},{"created":"2020-04-27T21:33:31.275075+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDK5 as ready","entity_name":"CDK5","entity_type":"gene"},{"created":"2020-04-27T21:33:31.264030+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdk5 has been classified as Red List (Low Evidence).","entity_name":"CDK5","entity_type":"gene"},{"created":"2020-04-27T21:33:24.357670+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CDK5 was added\ngene: CDK5 was added to Lissencephaly and Band Heterotopia. Sources: Expert list\nMode of inheritance for gene: CDK5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDK5 were set to 25560765\nPhenotypes for gene: CDK5 were set to Lissencephaly 7 with cerebellar hypoplasia, MIM#\t616342\nReview for gene: CDK5 was set to RED\nAdded comment: Single consanguineous family with multiple affected individuals reported, lissencephaly prominent. \nSources: Expert list","entity_name":"CDK5","entity_type":"gene"},{"created":"2020-04-27T21:31:32.831718+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDK5 as ready","entity_name":"CDK5","entity_type":"gene"},{"created":"2020-04-27T21:31:32.822039+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdk5 has been classified as Red List (Low Evidence).","entity_name":"CDK5","entity_type":"gene"},{"created":"2020-04-27T21:31:25.629535+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDK5 were changed from  to Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342","entity_name":"CDK5","entity_type":"gene"},{"created":"2020-04-27T21:31:02.501946+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CDK5 were set to ","entity_name":"CDK5","entity_type":"gene"},{"created":"2020-04-27T21:30:38.777524+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CDK5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CDK5","entity_type":"gene"},{"created":"2020-04-27T21:30:00.817656+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDK5 as Red List (low evidence)","entity_name":"CDK5","entity_type":"gene"},{"created":"2020-04-27T21:30:00.804687+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdk5 has been classified as Red List (Low Evidence).","entity_name":"CDK5","entity_type":"gene"},{"created":"2020-04-27T21:29:28.568175+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDK5: Rating: RED; Mode of pathogenicity: None; Publications: 25560765; Phenotypes: Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CDK5","entity_type":"gene"},{"created":"2020-04-27T21:28:29.863268+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2641","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDK5 as ready","entity_name":"CDK5","entity_type":"gene"},{"created":"2020-04-27T21:28:29.849953+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2641","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdk5 has been classified as Red List (Low Evidence).","entity_name":"CDK5","entity_type":"gene"},{"created":"2020-04-27T21:25:58.166021+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2641","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDK5 were changed from  to Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342","entity_name":"CDK5","entity_type":"gene"},{"created":"2020-04-27T21:25:24.198828+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2640","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CDK5 were set to ","entity_name":"CDK5","entity_type":"gene"},{"created":"2020-04-27T21:25:04.879553+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2639","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CDK5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CDK5","entity_type":"gene"},{"created":"2020-04-27T21:24:45.828478+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2638","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDK5 as Red List (low evidence)","entity_name":"CDK5","entity_type":"gene"},{"created":"2020-04-27T21:24:45.816351+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2638","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdk5 has been classified as Red List (Low Evidence).","entity_name":"CDK5","entity_type":"gene"},{"created":"2020-04-27T21:24:27.372799+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2637","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDK5: Rating: RED; Mode of pathogenicity: None; Publications: 25560765; Phenotypes: Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CDK5","entity_type":"gene"},{"created":"2020-04-27T21:23:17.400079+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDK5 as ready","entity_name":"CDK5","entity_type":"gene"},{"created":"2020-04-27T21:23:17.389259+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdk5 has been classified as Red List (Low Evidence).","entity_name":"CDK5","entity_type":"gene"},{"created":"2020-04-27T21:23:05.946675+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CDK5 was added\ngene: CDK5 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list\nMode of inheritance for gene: CDK5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDK5 were set to 25560765\nPhenotypes for gene: CDK5 were set to Lissencephaly 7 with cerebellar hypoplasia, MIM#\t616342\nReview for gene: CDK5 was set to RED\nAdded comment: Single consanguineous family with multiple affected individuals reported, lishencephaly prominent. \nSources: Expert list","entity_name":"CDK5","entity_type":"gene"},{"created":"2020-04-27T21:18:53.768899+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OXR1 as ready","entity_name":"OXR1","entity_type":"gene"},{"created":"2020-04-27T21:18:53.759495+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: oxr1 has been classified as Green List (High Evidence).","entity_name":"OXR1","entity_type":"gene"},{"created":"2020-04-27T21:18:49.912117+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: OXR1 as Green List (high evidence)","entity_name":"OXR1","entity_type":"gene"},{"created":"2020-04-27T21:18:49.903161+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: oxr1 has been classified as Green List (High Evidence).","entity_name":"OXR1","entity_type":"gene"},{"created":"2020-04-27T21:18:21.391037+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OXR1 was added\ngene: OXR1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list\nMode of inheritance for gene: OXR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OXR1 were set to 31785787\nPhenotypes for gene: OXR1 were set to Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, MIM#\t213000\nReview for gene: OXR1 was set to GREEN\nAdded comment: 5 individuals from 3 unrelated families reported with bi-allelic variants in this gene. Presentation was in early childhood with hypotonia, global developmental delay, delayed walking at about age 3 years, and severely impaired intellectual development with profound speech delay or even absent language. All also developed epilepsy between 7 and 10 years of age, but the seizures were controlled by medication in most. Subtle nonspecific dysmorphic features  included poor overall growth, large forehead, tall face, mild hypertelorism, joint hyperlaxity, and long fingers and toes. Brain imaging in all 5 individuals showed cerebellar atrophy and dysplasia. Additional cerebellar features, such as tremor, ataxia, and nystagmus, were not noted in these individuals. \nSources: Expert list","entity_name":"OXR1","entity_type":"gene"},{"created":"2020-04-27T21:14:47.638843+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OPHN1 as ready","entity_name":"OPHN1","entity_type":"gene"},{"created":"2020-04-27T21:14:47.626835+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ophn1 has been classified as Green List (High Evidence).","entity_name":"OPHN1","entity_type":"gene"},{"created":"2020-04-27T21:14:38.675231+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OPHN1 were changed from  to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, MIM# 300486","entity_name":"OPHN1","entity_type":"gene"},{"created":"2020-04-27T21:13:26.653297+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: OPHN1 were set to ","entity_name":"OPHN1","entity_type":"gene"},{"created":"2020-04-27T21:13:03.871284+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: OPHN1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"OPHN1","entity_type":"gene"},{"created":"2020-04-27T21:12:33.185522+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: OPHN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20528889, 9582072, 12807966, 16221952; Phenotypes: Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, MIM# 300486; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"OPHN1","entity_type":"gene"},{"created":"2020-04-27T21:08:38.187102+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Two families reported with bi-allelic variants in this gene and global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem. Additional features, including seizures and visual impairment, are variable. \nSources: Expert list; to: Two families reported with bi-allelic variants in this gene and global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem. Additional features, including seizures and visual impairment, are variable. Microcephaly -3/-4SD.\r\nSources: Expert list","entity_name":"VPS51","entity_type":"gene"},{"created":"2020-04-27T21:07:53.957637+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VPS51 was added\ngene: VPS51 was added to Microcephaly. Sources: Expert list\nMode of inheritance for gene: VPS51 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS51 were set to 30624672; 31207318\nPhenotypes for gene: VPS51 were set to Pontocerebellar hypoplasia, type 13, MIM#\t618606\nReview for gene: VPS51 was set to AMBER\nAdded comment: Two families reported with bi-allelic variants in this gene and global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem. Additional features, including seizures and visual impairment, are variable. \nSources: Expert list","entity_name":"VPS51","entity_type":"gene"},{"created":"2020-04-27T21:06:23.092606+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2600","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VPS51 as ready","entity_name":"VPS51","entity_type":"gene"},{"created":"2020-04-27T21:06:23.083095+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2600","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps51 has been classified as Amber List (Moderate Evidence).","entity_name":"VPS51","entity_type":"gene"},{"created":"2020-04-27T21:06:18.036277+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2600","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: VPS51 as Amber List (moderate evidence)","entity_name":"VPS51","entity_type":"gene"},{"created":"2020-04-27T21:06:18.023049+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2600","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps51 has been classified as Amber List (Moderate Evidence).","entity_name":"VPS51","entity_type":"gene"},{"created":"2020-04-27T21:05:46.021702+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2599","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VPS51 was added\ngene: VPS51 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: VPS51 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS51 were set to 30624672; 31207318\nPhenotypes for gene: VPS51 were set to Pontocerebellar hypoplasia, type 13, MIM#\t618606\nReview for gene: VPS51 was set to AMBER\nAdded comment: Two families reported with bi-allelic variants in this gene and global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem. Additional features, including seizures and visual impairment, are variable. \nSources: Expert list","entity_name":"VPS51","entity_type":"gene"},{"created":"2020-04-27T21:04:14.753696+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2637","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VPS51 as ready","entity_name":"VPS51","entity_type":"gene"},{"created":"2020-04-27T21:04:14.740797+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2637","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps51 has been classified as Amber List (Moderate Evidence).","entity_name":"VPS51","entity_type":"gene"},{"created":"2020-04-27T21:00:56.154657+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2637","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: VPS51 as Amber List (moderate evidence)","entity_name":"VPS51","entity_type":"gene"},{"created":"2020-04-27T21:00:56.145809+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2637","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps51 has been classified as Amber List (Moderate Evidence).","entity_name":"VPS51","entity_type":"gene"},{"created":"2020-04-27T21:00:36.647140+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2636","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VPS51 was added\ngene: VPS51 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: VPS51 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS51 were set to 30624672; 31207318\nPhenotypes for gene: VPS51 were set to Pontocerebellar hypoplasia, type 13, MIM#\t618606\nReview for gene: VPS51 was set to AMBER\nAdded comment: Two families reported with bi-allelic variants in this gene and global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem. Additional features, including seizures and visual impairment, are variable. \nSources: Expert list","entity_name":"VPS51","entity_type":"gene"},{"created":"2020-04-27T20:58:46.624072+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VPS51 as ready","entity_name":"VPS51","entity_type":"gene"},{"created":"2020-04-27T20:58:46.610879+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps51 has been classified as Amber List (Moderate Evidence).","entity_name":"VPS51","entity_type":"gene"},{"created":"2020-04-27T20:58:42.502255+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: VPS51 as Amber List (moderate evidence)","entity_name":"VPS51","entity_type":"gene"},{"created":"2020-04-27T20:58:42.491724+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps51 has been classified as Amber List (Moderate Evidence).","entity_name":"VPS51","entity_type":"gene"},{"created":"2020-04-27T20:58:12.108475+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VPS51 was added\ngene: VPS51 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list\nMode of inheritance for gene: VPS51 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS51 were set to 30624672; 31207318\nPhenotypes for gene: VPS51 were set to Pontocerebellar hypoplasia, type 13, MIM#\t618606\nReview for gene: VPS51 was set to AMBER\nAdded comment: Two families reported with bi-allelic variants in this gene and global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem. Additional features, including seizures and visual impairment, are variable. \nSources: Expert list","entity_name":"VPS51","entity_type":"gene"},{"created":"2020-04-27T20:52:26.884522+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VLDLR as ready","entity_name":"VLDLR","entity_type":"gene"},{"created":"2020-04-27T20:52:26.875590+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vldlr has been classified as Green List (High Evidence).","entity_name":"VLDLR","entity_type":"gene"},{"created":"2020-04-27T20:52:23.271665+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: VLDLR were changed from  to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050","entity_name":"VLDLR","entity_type":"gene"},{"created":"2020-04-27T20:52:01.172186+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: VLDLR were set to ","entity_name":"VLDLR","entity_type":"gene"},{"created":"2020-04-27T20:51:38.335601+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: VLDLR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"VLDLR","entity_type":"gene"},{"created":"2020-04-27T20:51:07.785043+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: VLDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: 16080122, 18326629; Phenotypes: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VLDLR","entity_type":"gene"},{"created":"2020-04-27T20:48:51.520364+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UFM1 as ready","entity_name":"UFM1","entity_type":"gene"},{"created":"2020-04-27T20:48:51.506972+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ufm1 has been classified as Green List (High Evidence).","entity_name":"UFM1","entity_type":"gene"},{"created":"2020-04-27T20:48:44.337943+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UFM1 were changed from  to Leukodystrophy, hypomyelinating, 14, MIM# 617899","entity_name":"UFM1","entity_type":"gene"},{"created":"2020-04-27T20:48:21.588989+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UFM1 were set to ","entity_name":"UFM1","entity_type":"gene"},{"created":"2020-04-27T20:47:58.775549+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: UFM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"UFM1","entity_type":"gene"},{"created":"2020-04-27T20:46:59.914927+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TERT as ready","entity_name":"TERT","entity_type":"gene"},{"created":"2020-04-27T20:46:59.901647+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tert has been classified as Amber List (Moderate Evidence).","entity_name":"TERT","entity_type":"gene"},{"created":"2020-04-27T20:46:53.704957+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TERT as Amber List (moderate evidence)","entity_name":"TERT","entity_type":"gene"},{"created":"2020-04-27T20:46:53.695524+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tert has been classified as Amber List (Moderate Evidence).","entity_name":"TERT","entity_type":"gene"},{"created":"2020-04-27T20:46:03.176711+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EXOSC9 as ready","entity_name":"EXOSC9","entity_type":"gene"},{"created":"2020-04-27T20:46:03.167810+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: exosc9 has been classified as Amber List (Moderate Evidence).","entity_name":"EXOSC9","entity_type":"gene"},{"created":"2020-04-27T20:45:37.468636+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EXOSC9 were changed from  to Pontocerebellar hypoplasia, type 1D 618065","entity_name":"EXOSC9","entity_type":"gene"}]}