{"count":221416,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=415","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=413","results":[{"created":"2024-08-01T16:31:09.757247+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.76","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: DYNC1I2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31079899; Phenotypes: Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DYNC1I2","entity_type":"gene"},{"created":"2024-08-01T16:24:50.505794+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.76","user_name":"Cassandra Muller","item_type":"entity","text":"reviewed gene: ACADM: Rating: GREEN; Mode of pathogenicity: None; Publications: 9158144; Phenotypes: Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM #201450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACADM","entity_type":"gene"},{"created":"2024-08-01T16:22:22.425290+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.76","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: DHODH: Rating: GREEN; Mode of pathogenicity: None; Publications: 19915526; Phenotypes: Miller syndrome, MIM# 263750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DHODH","entity_type":"gene"},{"created":"2024-08-01T16:14:26.920093+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.76","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: CTSC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Haim-Munk syndrome MIM#245010, Papillon-Lefevre syndrome MIM#245000, Periodontitis 1, juvenile MIM#170650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CTSC","entity_type":"gene"},{"created":"2024-08-01T16:08:58.877876+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.76","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32295037; Phenotypes: CPT II deficiency, infantile MIM#600649, CPT II deficiency, lethal neonatal MIM#608836, CPT II deficiency, myopathic, stress-induced MIM#255110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CPT2","entity_type":"gene"},{"created":"2024-08-01T16:04:03.735915+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.76","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: COX20: Rating: GREEN; Mode of pathogenicity: None; Publications: 33751098; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 11, MIM#619054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COX20","entity_type":"gene"},{"created":"2024-08-01T15:57:44.250565+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.76","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: None; Publications: 30561534; Phenotypes: Ceroid lipofuscinosis, neuronal, 6, MIM# 601780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CLN6","entity_type":"gene"},{"created":"2024-08-01T15:49:31.495993+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.65","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EXOSC3 as ready","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2024-08-01T15:49:31.479934+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: exosc3 has been classified as Red List (Low Evidence).","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2024-08-01T15:48:45.226976+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.76","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: CERKL: Rating: AMBER; Mode of pathogenicity: None; Publications: 37331655; Phenotypes: Retinitis pigmentosa 26 (MIM#608380); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CERKL","entity_type":"gene"},{"created":"2024-08-01T15:44:58.549548+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: EMILIN1: Added comment: PMID 38963291: additional variant reported in an individual with neuropathy; however limited supporting evidence.; Changed publications: 31978608, 26462740, 38963291","entity_name":"EMILIN1","entity_type":"gene"},{"created":"2024-08-01T15:41:06.062194+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNJ10 as ready","entity_name":"KCNJ10","entity_type":"gene"},{"created":"2024-08-01T15:41:06.038277+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnj10 has been classified as Green List (High Evidence).","entity_name":"KCNJ10","entity_type":"gene"},{"created":"2024-08-01T15:40:59.469479+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KCNJ10 as Green List (high evidence)","entity_name":"KCNJ10","entity_type":"gene"},{"created":"2024-08-01T15:40:59.453975+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnj10 has been classified as Green List (High Evidence).","entity_name":"KCNJ10","entity_type":"gene"},{"created":"2024-08-01T15:39:58.695882+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1909","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNJ10 were changed from SESAME syndrome, MIM# 612780 to SESAME syndrome, MIM# 612780; Paroxysmal dyskinesia, MONDO:0015427, KCNJ10-related","entity_name":"KCNJ10","entity_type":"gene"},{"created":"2024-08-01T15:39:34.387891+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1908","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNJ10 were set to 19289823; 19420365; 21849804; 11466414","entity_name":"KCNJ10","entity_type":"gene"},{"created":"2024-08-01T15:39:10.745527+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1907","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KCNJ10 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"KCNJ10","entity_type":"gene"},{"created":"2024-08-01T15:38:50.620395+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1906","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KCNJ10: Added comment: PMID 38979912: 11 individuals from 8 unrelated families reported with variants in this gene and paroxysmal dyskinesia. Notably one was the parent of a child with recessive SeSAME syndrome (established gene-disease association). Patch-clamp recordings in HEK293T cells revealed apparent reductions in K+ currents of the patient-derived variants, indicating a loss-of-function. In Drosophila, milder hyperexcitability phenotypes were observed in heterozygous Irk2 knock-in flies compared to homozygotes, supporting haploinsufficiency as the mechanism for the detected heterozygous variants. Electrophysiological recordings showed that excitatory neurons in Irk2 haploinsufficiency flies exhibited increased excitability, and glia-specific complementation with human Kir4.1 rescued the Irk2 mutant phenotypes.; Changed publications: 19289823, 19420365, 21849804, 11466414, 38979912; Changed phenotypes: SESAME syndrome, MIM# 612780, Paroxysmal dyskinesia, MONDO:0015427, KCNJ10-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"KCNJ10","entity_type":"gene"},{"created":"2024-08-01T15:37:54.234485+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNJ10 was added\ngene: KCNJ10 was added to Paroxysmal Dyskinesia. Sources: Literature\nMode of inheritance for gene: KCNJ10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNJ10 were set to 38979912\nPhenotypes for gene: KCNJ10 were set to Paroxysmal dyskinesia, MONDO:0015427, KCNJ10-related\nReview for gene: KCNJ10 was set to GREEN\nAdded comment: 11 individuals from 8 unrelated families reported with variants in this gene and paroxysmal dyskinesia. Notably one was the parent of a child with recessive SeSAME syndrome (established gene-disease association). Patch-clamp recordings in HEK293T cells revealed apparent reductions in K+ currents of the patient-derived variants, indicating a loss-of-function. In Drosophila, milder hyperexcitability phenotypes were observed in heterozygous Irk2 knock-in flies compared to homozygotes, supporting haploinsufficiency as the mechanism for the detected heterozygous variants. Electrophysiological recordings showed that excitatory neurons in Irk2 haploinsufficiency flies exhibited increased excitability, and glia-specific complementation with human Kir4.1 rescued the Irk2 mutant phenotypes. \nSources: Literature","entity_name":"KCNJ10","entity_type":"gene"},{"created":"2024-08-01T15:28:04.095942+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1906","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC45A1 were set to 28434495","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2024-08-01T15:27:30.659524+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1905","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC45A1 as Green List (high evidence)","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2024-08-01T15:27:30.638883+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1905","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc45a1 has been classified as Green List (High Evidence).","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2024-08-01T15:27:09.960122+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1904","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC45A1: Added comment: PMID 39003656: additional individual with compound het missense variants and supportive functional data.; Changed rating: GREEN; Changed publications: 28434495, 39003656","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2024-08-01T15:25:30.168354+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6072","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC45A1 were set to 28434495","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2024-08-01T15:24:47.609472+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6071","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC45A1 as Green List (high evidence)","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2024-08-01T15:24:47.596131+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6071","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc45a1 has been classified as Green List (High Evidence).","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2024-08-01T15:24:10.573937+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6070","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC45A1: Added comment: PMID 39003656: additional individual with compound het missense variants and supportive functional data.; Changed rating: GREEN; Changed publications: 28434495, 39003656","entity_name":"SLC45A1","entity_type":"gene"},{"created":"2024-08-01T15:16:08.466318+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.525","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SRPK3 were set to 38429495; 39073169","entity_name":"SRPK3","entity_type":"gene"},{"created":"2024-08-01T15:15:28.804914+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.524","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SRPK3: Changed publications: 39073169","entity_name":"SRPK3","entity_type":"gene"},{"created":"2024-08-01T15:14:07.563548+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.211","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: HBS1L as Amber List (moderate evidence)","entity_name":"HBS1L","entity_type":"gene"},{"created":"2024-08-01T15:14:07.539109+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.211","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: hbs1l has been classified as Amber List (Moderate Evidence).","entity_name":"HBS1L","entity_type":"gene"},{"created":"2024-08-01T15:13:13.428496+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6070","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SRPK3 were set to 38429495; 39073169","entity_name":"SRPK3","entity_type":"gene"},{"created":"2024-08-01T15:12:31.138317+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6069","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SRPK3: Changed publications: 39073169","entity_name":"SRPK3","entity_type":"gene"},{"created":"2024-08-01T15:12:12.635402+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.257","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SRPK3 as ready","entity_name":"SRPK3","entity_type":"gene"},{"created":"2024-08-01T15:12:12.599752+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.257","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srpk3 has been classified as Amber List (Moderate Evidence).","entity_name":"SRPK3","entity_type":"gene"},{"created":"2024-08-01T15:11:58.880948+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.257","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SRPK3 as Amber List (moderate evidence)","entity_name":"SRPK3","entity_type":"gene"},{"created":"2024-08-01T15:11:58.868299+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.257","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srpk3 has been classified as Amber List (Moderate Evidence).","entity_name":"SRPK3","entity_type":"gene"},{"created":"2024-08-01T15:11:51.155318+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.210","user_name":"Bryony Thompson","item_type":"entity","text":"gene: HBS1L was added\ngene: HBS1L was added to Syndromic Retinopathy. Sources: Literature\nMode of inheritance for gene: HBS1L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HBS1L were set to 38966981; 24288412; 30707697\nPhenotypes for gene: HBS1L were set to Retinal disorder MONDO:0005283\nReview for gene: HBS1L was set to AMBER\nAdded comment: A single case with biallelic variants reported with retinal dystrophy, poor growth and neurodevelopmental delay (originally reported in 2013). A hypomorph mouse model demonstrated defective development of photoreceptor cells. \nSources: Literature","entity_name":"HBS1L","entity_type":"gene"},{"created":"2024-08-01T15:11:45.126083+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.256","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SRPK3 was added\ngene: SRPK3 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: SRPK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SRPK3 were set to 39073169\nPhenotypes for gene: SRPK3 were set to Neurodevelopmental disorder, MONDO:0700092, SRPK3-related\nReview for gene: SRPK3 was set to AMBER\nAdded comment: PMID 39073169: 9 individuals from 5 unrelated families reported with 4 missense and 1 putative truncating variant and a neurodevelopmental phenotype. The 8 patients ascertained postnatally shared common clinical features including intellectual disability, agenesis of the corpus callosum, abnormal eye movement, and ataxia. A ninth case, ascertained prenatally, had a complex structural brain phenotype. Supportive animal model data (mouse and zebrafish). \nSources: Literature","entity_name":"SRPK3","entity_type":"gene"},{"created":"2024-08-01T15:10:26.932361+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.524","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SRPK3 as ready","entity_name":"SRPK3","entity_type":"gene"},{"created":"2024-08-01T15:10:26.901088+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.524","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srpk3 has been classified as Green List (High Evidence).","entity_name":"SRPK3","entity_type":"gene"},{"created":"2024-08-01T15:10:21.511089+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.524","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SRPK3 as Green List (high evidence)","entity_name":"SRPK3","entity_type":"gene"},{"created":"2024-08-01T15:10:21.491330+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.524","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srpk3 has been classified as Green List (High Evidence).","entity_name":"SRPK3","entity_type":"gene"},{"created":"2024-08-01T15:09:46.820786+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.523","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SRPK3 was added\ngene: SRPK3 was added to Callosome. Sources: Literature\nMode of inheritance for gene: SRPK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SRPK3 were set to 38429495; 39073169\nPhenotypes for gene: SRPK3 were set to Neurodevelopmental disorder, MONDO:0700092, SRPK3-related\nReview for gene: SRPK3 was set to GREEN\nAdded comment: PMID 39073169: 9 individuals from 5 unrelated families reported with 4 missense and 1 putative truncating variant and a neurodevelopmental phenotype. The 8 patients ascertained postnatally shared common clinical features including intellectual disability, agenesis of the corpus callosum, abnormal eye movement, and ataxia. A ninth case, ascertained prenatally, had a complex structural brain phenotype. Supportive animal model data (mouse and zebrafish). \nSources: Literature","entity_name":"SRPK3","entity_type":"gene"},{"created":"2024-08-01T15:09:00.887412+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6069","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SRPK3 as ready","entity_name":"SRPK3","entity_type":"gene"},{"created":"2024-08-01T15:09:00.871468+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6069","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srpk3 has been classified as Green List (High Evidence).","entity_name":"SRPK3","entity_type":"gene"},{"created":"2024-08-01T15:08:45.866553+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1904","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: HBS1L as ready","entity_name":"HBS1L","entity_type":"gene"},{"created":"2024-08-01T15:08:45.851288+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1904","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: hbs1l has been classified as Amber List (Moderate Evidence).","entity_name":"HBS1L","entity_type":"gene"},{"created":"2024-08-01T15:06:44.334805+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6069","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SRPK3 as Green List (high evidence)","entity_name":"SRPK3","entity_type":"gene"},{"created":"2024-08-01T15:06:44.322721+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6069","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srpk3 has been classified as Green List (High Evidence).","entity_name":"SRPK3","entity_type":"gene"},{"created":"2024-08-01T15:06:05.423953+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6068","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SRPK3 was added\ngene: SRPK3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SRPK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SRPK3 were set to 38429495; 39073169\nPhenotypes for gene: SRPK3 were set to Neurodevelopmental disorder, MONDO:0700092, SRPK3-related\nReview for gene: SRPK3 was set to GREEN\nAdded comment: PMID 39073169: 9 individuals from 5 unrelated families reported with 4 missense and 1 putative truncating variant and a neurodevelopmental phenotype. The 8 patients ascertained postnatally shared common clinical features including intellectual disability, agenesis of the corpus callosum, abnormal eye movement, and ataxia. A ninth case, ascertained prenatally, had a complex structural brain phenotype. Supportive animal model data (mouse and zebrafish). \nSources: Literature","entity_name":"SRPK3","entity_type":"gene"},{"created":"2024-08-01T15:05:24.047536+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1904","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: HBS1L as Amber List (moderate evidence)","entity_name":"HBS1L","entity_type":"gene"},{"created":"2024-08-01T15:05:23.995453+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1904","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: hbs1l has been classified as Amber List (Moderate Evidence).","entity_name":"HBS1L","entity_type":"gene"},{"created":"2024-08-01T15:04:40.039628+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1903","user_name":"Bryony Thompson","item_type":"entity","text":"gene: HBS1L was added\ngene: HBS1L was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HBS1L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HBS1L were set to 38966981; 24288412; 30707697\nPhenotypes for gene: HBS1L were set to Retinal disorder MONDO:0005283\nReview for gene: HBS1L was set to AMBER\nAdded comment: A single case with biallelic variants reported with retinal dystrophy, poor growth and neurodevelopmental delay (originally reported in 2013). A hypomorph mouse model demonstrated defective development of photoreceptor cells. \nSources: Literature","entity_name":"HBS1L","entity_type":"gene"},{"created":"2024-08-01T15:04:17.437778+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1902","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SRPK3 were changed from Myopathy, MONDO:0005336, digenic SRPK3- and TTN-related to Myopathy, MONDO:0005336, digenic SRPK3- and TTN-related; Neurodevelopmental disorder, MONDO:0700092, SRPK3-related","entity_name":"SRPK3","entity_type":"gene"},{"created":"2024-08-01T15:03:52.176640+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1901","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SRPK3 were set to 38429495","entity_name":"SRPK3","entity_type":"gene"},{"created":"2024-08-01T15:03:35.648872+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"1.37","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: OPDM4_RILPL1_CGG as ready","entity_name":"OPDM4_RILPL1_CGG","entity_type":"str"},{"created":"2024-08-01T15:03:35.629278+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"1.37","user_name":"Bryony Thompson","item_type":"entity","text":"Str: opdm4_rilpl1_cgg has been classified as Green List (High Evidence).","entity_name":"OPDM4_RILPL1_CGG","entity_type":"str"},{"created":"2024-08-01T15:03:14.229952+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1900","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SRPK3: Changed phenotypes: Myopathy, MONDO:0005336, digenic SRPK3- and TTN-related, Neurodevelopmental disorder, MONDO:0700092, SRPK3-related","entity_name":"SRPK3","entity_type":"gene"},{"created":"2024-08-01T15:00:33.348156+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1900","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SRPK3: Added comment: PMID 39073169: 9 individuals from 5 unrelated families reported with 4 missense and 1 putative truncating variant and a neurodevelopmental phenotype. The 8 patients ascertained postnatally shared common clinical features including intellectual disability, agenesis of the corpus callosum, abnormal eye movement, and ataxia. A ninth case, ascertained prenatally, had a complex structural brain phenotype. Supportive animal model data (mouse and zebrafish).; Changed publications: 38429495, 39073169","entity_name":"SRPK3","entity_type":"gene"},{"created":"2024-08-01T14:49:44.497735+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"1.37","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: OPDM4_RILPL1_CGG as Green List (high evidence)","entity_name":"OPDM4_RILPL1_CGG","entity_type":"str"},{"created":"2024-08-01T14:49:44.482925+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"1.37","user_name":"Bryony Thompson","item_type":"entity","text":"Str: opdm4_rilpl1_cgg has been classified as Green List (High Evidence).","entity_name":"OPDM4_RILPL1_CGG","entity_type":"str"},{"created":"2024-08-01T14:47:26.718604+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"1.36","user_name":"Bryony Thompson","item_type":"entity","text":"STR: OPDM4_RILPL1_CGG was added\nSTR: OPDM4_RILPL1_CGG was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature\nMode of inheritance for STR: OPDM4_RILPL1_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: OPDM4_RILPL1_CGG were set to 35148830\nPhenotypes for STR: OPDM4_RILPL1_CGG were set to Oculopharyngodistal myopathy MONDO:0025193\nReview for STR: OPDM4_RILPL1_CGG was set to GREEN\nSTR: OPDM4_RILPL1_CGG was marked as clinically relevant\nAdded comment: 5'UTR repeat upstream of RILPL1. Analyses suggest that toxic RNA gain-of-function is the mechanism of disease for the repeat expansion.\r\nDistribution of CGG repeat units in RILPL1 ranged from 9 to 16 among 200 normal controls. The size of the CGG repeat ranged from 139 to 197 (169.91 ± 21.82) repeats in 11 unrelated individuals with OPDM. Segregation evidence from 1 family, with 2 affected individuals with the repeat expansion and 1 individual with essential tremor but not OPDM and 86 repeats (intermediate). \nSources: Literature","entity_name":"OPDM4_RILPL1_CGG","entity_type":"str"},{"created":"2024-08-01T14:41:22.266388+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"1.35","user_name":"Bryony Thompson","item_type":"panel","text":"removed STR:OPDM1_LRP12_CGG from the panel","entity_name":null,"entity_type":null},{"created":"2024-08-01T14:40:25.651320+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"1.34","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: OPDM1_LRP12_CGG as Green List (high evidence)","entity_name":"OPDM1_LRP12_CGG","entity_type":"str"},{"created":"2024-08-01T14:40:25.635341+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"1.34","user_name":"Bryony Thompson","item_type":"entity","text":"Str: opdm1_lrp12_cgg has been classified as Green List (High Evidence).","entity_name":"OPDM1_LRP12_CGG","entity_type":"str"},{"created":"2024-08-01T14:39:58.266557+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"1.33","user_name":"Bryony Thompson","item_type":"entity","text":"STR: OPDM1_LRP12_CGG was added\nSTR: OPDM1_LRP12_CGG was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature\nMode of inheritance for STR: OPDM1_LRP12_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: OPDM1_LRP12_CGG were set to 31332380; 34047774\nPhenotypes for STR: OPDM1_LRP12_CGG were set to oculopharyngodistal myopathy 1 MONDO:0020793\nReview for STR: OPDM1_LRP12_CGG was set to GREEN\nSTR: OPDM1_LRP12_CGG was marked as clinically relevant\nAdded comment: NM_013437.5:c.-102CGG[X]\r\nRNA-mediated toxicity is thought to be the mechanism of disease. Sixty-five Japanese patients with oculopharyngodistal myopathy (OPDM) from 59 families with CGG repeat expansions in LRP12. This represents the most common OPDM subtype among all patients in Japan with genetically diagnosed OPDM.\r\nNormal: 13 to 45 repeats.\r\nPathogenic: 85 to 289 repeats. \nSources: Literature","entity_name":"OPDM1_LRP12_CGG","entity_type":"str"},{"created":"2024-08-01T14:37:22.917151+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6067","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: RBBP5 as ready","entity_name":"RBBP5","entity_type":"gene"},{"created":"2024-08-01T14:37:22.901004+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6067","user_name":"Ain Roesley","item_type":"entity","text":"Gene: rbbp5 has been classified as Green List (High Evidence).","entity_name":"RBBP5","entity_type":"gene"},{"created":"2024-08-01T14:37:04.173744+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6067","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: RBBP5 as Green List (high evidence)","entity_name":"RBBP5","entity_type":"gene"},{"created":"2024-08-01T14:37:04.154019+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6067","user_name":"Ain Roesley","item_type":"entity","text":"Gene: rbbp5 has been classified as Green List (High Evidence).","entity_name":"RBBP5","entity_type":"gene"},{"created":"2024-08-01T14:36:40.221943+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6067","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: RBBP5 as Green List (high evidence)","entity_name":"RBBP5","entity_type":"gene"},{"created":"2024-08-01T14:36:40.208067+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6067","user_name":"Ain Roesley","item_type":"entity","text":"Gene: rbbp5 has been classified as Green List (High Evidence).","entity_name":"RBBP5","entity_type":"gene"},{"created":"2024-08-01T14:36:10.246426+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1900","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: RBBP5 as ready","entity_name":"RBBP5","entity_type":"gene"},{"created":"2024-08-01T14:36:10.224311+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1900","user_name":"Ain Roesley","item_type":"entity","text":"Gene: rbbp5 has been classified as Green List (High Evidence).","entity_name":"RBBP5","entity_type":"gene"},{"created":"2024-08-01T14:35:21.336917+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"1.32","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: OPDM_ABCD3_GCC as ready","entity_name":"OPDM_ABCD3_GCC","entity_type":"str"},{"created":"2024-08-01T14:35:21.322141+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"1.32","user_name":"Bryony Thompson","item_type":"entity","text":"Str: opdm_abcd3_gcc has been classified as Green List (High Evidence).","entity_name":"OPDM_ABCD3_GCC","entity_type":"str"},{"created":"2024-08-01T14:35:14.602958+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6066","user_name":"Ain Roesley","item_type":"entity","text":"gene: RBBP5 was added\ngene: RBBP5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RBBP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RBBP5 were set to 39036895\nReview for gene: RBBP5 was set to GREEN\ngene: RBBP5 was marked as current diagnostic\nAdded comment: 5x Indivs (4x de novo) = 3x PTCs + 2x missense\r\n\r\n4/5 dev delay/ID\r\n2/5 short stature (<=-3 SD) + 2/5 <= -2 SD\r\n1/5 microcephaly (<= -3 SD) + 3/5 <= -2 SD\r\n2/5 SNHL\r\n2/5 seizures\r\n3/5 hypotonia \nSources: Literature","entity_name":"RBBP5","entity_type":"gene"},{"created":"2024-08-01T14:35:04.680452+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"1.32","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: OPDM_ABCD3_GCC as Green List (high evidence)","entity_name":"OPDM_ABCD3_GCC","entity_type":"str"},{"created":"2024-08-01T14:35:04.663775+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"1.32","user_name":"Bryony Thompson","item_type":"entity","text":"Str: opdm_abcd3_gcc has been classified as Green List (High Evidence).","entity_name":"OPDM_ABCD3_GCC","entity_type":"str"},{"created":"2024-08-01T14:34:15.697284+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"1.31","user_name":"Bryony Thompson","item_type":"entity","text":"STR: OPDM_ABCD3_GCC was added\nSTR: OPDM_ABCD3_GCC was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature\nMode of inheritance for STR: OPDM_ABCD3_GCC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: OPDM_ABCD3_GCC were set to 39068203\nPhenotypes for STR: OPDM_ABCD3_GCC were set to Oculopharyngodistal myopathy MONDO:0025193\nReview for STR: OPDM_ABCD3_GCC was set to GREEN\nSTR: OPDM_ABCD3_GCC was marked as clinically relevant\nAdded comment: 35 OPDM individuals from 8 unrelated families from Australia, the UK, and France with an ABCD3 5’UTR CGG repeat. Affected individuals had repeat expansions ranging from 118-694 (n=19). 7 repeats is the median repeat size in non-neurological controls from the GE 100,000 Genome Project. 10 controls had estimated repeats >50, up to ~93. 50 repeats would be a safe cut-off for normal \nSources: Literature","entity_name":"OPDM_ABCD3_GCC","entity_type":"str"},{"created":"2024-08-01T14:34:11.126522+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1900","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: NDC1 as ready","entity_name":"NDC1","entity_type":"gene"},{"created":"2024-08-01T14:34:11.106947+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1900","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ndc1 has been classified as Green List (High Evidence).","entity_name":"NDC1","entity_type":"gene"},{"created":"2024-08-01T14:32:59.179922+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1900","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: 5x Indivis (4x de novo) = 3x PTCs + 2x missense\r\n\r\n4/5 dev delay/ID\r\n2/5 short stature (<=-3 SD) + 2/5 <= -2 SD\r\n1/5 microcephaly (< -3 SD) + 3/5 <= -2 SD\r\n2/5 SNHL\r\n2/5 seizures\r\n3/5 hypotonia; to: 5x Indivs (4x de novo) = 3x PTCs + 2x missense\r\n\r\n4/5 dev delay/ID\r\n2/5 short stature (<=-3 SD) + 2/5 <= -2 SD\r\n1/5 microcephaly (< -3 SD) + 3/5 <= -2 SD\r\n2/5 SNHL\r\n2/5 seizures\r\n3/5 hypotonia","entity_name":"RBBP5","entity_type":"gene"},{"created":"2024-08-01T14:31:38.727105+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1900","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: NDC1 as Green List (high evidence)","entity_name":"NDC1","entity_type":"gene"},{"created":"2024-08-01T14:31:38.712530+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1900","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ndc1 has been classified as Green List (High Evidence).","entity_name":"NDC1","entity_type":"gene"},{"created":"2024-08-01T14:31:12.686108+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1899","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NDC1 was added\ngene: NDC1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NDC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDC1 were set to 39003500; 19782045\nPhenotypes for gene: NDC1 were set to triple-A syndrome MONDO:0009279\nReview for gene: NDC1 was set to GREEN\nAdded comment: 7 cases from 4 consanguineous families (3 different variants: 1 intronic variants that causes in-frame RNA splice impact, 2 missense) with a Triple-A-like syndrome (including ID and neuropathy). Supporting cellular localisation studies were conducted in patient cell lines with the splice variant. NDC1 is required to anchor ALADIN (encoded by AAAS, the gene that causes Triple-A syndrome) in the nuclear pore complex. \nSources: Literature","entity_name":"NDC1","entity_type":"gene"},{"created":"2024-08-01T14:28:34.069787+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.16","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: NDC1 as ready","entity_name":"NDC1","entity_type":"gene"},{"created":"2024-08-01T14:28:34.034497+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.16","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ndc1 has been classified as Green List (High Evidence).","entity_name":"NDC1","entity_type":"gene"},{"created":"2024-08-01T14:28:28.371696+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6065","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: NDC1 as ready","entity_name":"NDC1","entity_type":"gene"},{"created":"2024-08-01T14:28:28.353753+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6065","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ndc1 has been classified as Green List (High Evidence).","entity_name":"NDC1","entity_type":"gene"},{"created":"2024-08-01T14:26:56.266360+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1898","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: OPDM_ABCD3_GCC as ready","entity_name":"OPDM_ABCD3_GCC","entity_type":"str"},{"created":"2024-08-01T14:26:56.250883+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1898","user_name":"Bryony Thompson","item_type":"entity","text":"Str: opdm_abcd3_gcc has been classified as Green List (High Evidence).","entity_name":"OPDM_ABCD3_GCC","entity_type":"str"},{"created":"2024-08-01T14:24:59.542911+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1898","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: OPDM_ABCD3_GCC as Green List (high evidence)","entity_name":"OPDM_ABCD3_GCC","entity_type":"str"},{"created":"2024-08-01T14:24:59.531680+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1898","user_name":"Bryony Thompson","item_type":"entity","text":"Str: opdm_abcd3_gcc has been classified as Green List (High Evidence).","entity_name":"OPDM_ABCD3_GCC","entity_type":"str"},{"created":"2024-08-01T14:24:44.885407+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.16","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: NDC1 as Green List (high evidence)","entity_name":"NDC1","entity_type":"gene"},{"created":"2024-08-01T14:24:44.868977+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.16","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ndc1 has been classified as Green List (High Evidence).","entity_name":"NDC1","entity_type":"gene"},{"created":"2024-08-01T14:24:35.275230+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1897","user_name":"Bryony Thompson","item_type":"entity","text":"STR: OPDM_ABCD3_GCC was added\nSTR: OPDM_ABCD3_GCC was added to Mendeliome. Sources: Literature\nMode of inheritance for STR: OPDM_ABCD3_GCC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: OPDM_ABCD3_GCC were set to 39068203\nPhenotypes for STR: OPDM_ABCD3_GCC were set to Oculopharyngodistal myopathy MONDO:0025193\nReview for STR: OPDM_ABCD3_GCC was set to GREEN\nSTR: OPDM_ABCD3_GCC was marked as clinically relevant\nAdded comment: 35 OPDM individuals from 8 unrelated families from Australia, the UK, and France with an ABCD3 5’UTR CGG repeat. Affected individuals had repeat expansions ranging from 118-694 (n=19). 7 repeats is the median repeat size in non-neurological controls from the GE 100,000 Genome Project. 10 controls had estimated repeats >50, up to ~93. 50 repeats would be a safe cut-off for normal \nSources: Literature","entity_name":"OPDM_ABCD3_GCC","entity_type":"str"},{"created":"2024-08-01T14:22:15.952438+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.15","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NDC1 was added\ngene: NDC1 was added to Hereditary Neuropathy - complex. Sources: Literature\nMode of inheritance for gene: NDC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDC1 were set to 39003500; 19782045\nPhenotypes for gene: NDC1 were set to triple-A syndrome MONDO:0009279\nReview for gene: NDC1 was set to GREEN\nAdded comment: 7 cases from 4 consanguineous families (3 different variants: 1 intronic variants that causes in-frame RNA splice impact, 2 missense) with a Triple-A-like syndrome (including ID and neuropathy). Supporting cellular localisation studies were conducted in patient cell lines with the splice variant. NDC1 is required to anchor ALADIN (encoded by AAAS, the gene that causes Triple-A syndrome) in the nuclear pore complex. \nSources: Literature","entity_name":"NDC1","entity_type":"gene"}]}