{"count":220725,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1565","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1563","results":[{"created":"2020-09-30T19:54:16.103698+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GYS1 were set to ","entity_name":"GYS1","entity_type":"gene"},{"created":"2020-09-30T19:53:47.000305+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GYS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GYS1","entity_type":"gene"},{"created":"2020-09-30T19:52:47.816028+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3038","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGT as ready","entity_name":"PIGT","entity_type":"gene"},{"created":"2020-09-30T19:52:47.807300+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3038","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigt has been classified as Green List (High Evidence).","entity_name":"PIGT","entity_type":"gene"},{"created":"2020-09-30T19:52:43.935083+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3038","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGT were changed from  to Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398","entity_name":"PIGT","entity_type":"gene"},{"created":"2020-09-30T19:52:12.417977+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3037","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIGT were set to ","entity_name":"PIGT","entity_type":"gene"},{"created":"2020-09-30T19:51:46.182683+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3036","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIGT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGT","entity_type":"gene"},{"created":"2020-09-30T19:50:57.940038+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3035","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIGT: Rating: GREEN; Mode of pathogenicity: None; Publications: 30976099, 25943031, 24906948, 24906948, 24906948, 28728837, 28728837, 28728837; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGT","entity_type":"gene"},{"created":"2020-09-30T19:50:02.648428+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.869","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGT as ready","entity_name":"PIGT","entity_type":"gene"},{"created":"2020-09-30T19:50:02.628290+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.869","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigt has been classified as Green List (High Evidence).","entity_name":"PIGT","entity_type":"gene"},{"created":"2020-09-30T19:49:58.890924+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.869","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGT were changed from  to Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398","entity_name":"PIGT","entity_type":"gene"},{"created":"2020-09-30T19:48:22.056173+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.868","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIGT were set to ","entity_name":"PIGT","entity_type":"gene"},{"created":"2020-09-30T19:47:59.633855+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.867","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIGT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGT","entity_type":"gene"},{"created":"2020-09-30T19:47:26.374268+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.866","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIGT: Rating: GREEN; Mode of pathogenicity: None; Publications: 30976099, 25943031, 24906948, 24906948, 24906948, 28728837, 28728837, 28728837; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGT","entity_type":"gene"},{"created":"2020-09-30T19:46:40.011065+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIGT were set to ","entity_name":"PIGT","entity_type":"gene"},{"created":"2020-09-30T19:46:06.447170+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4676","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGT as ready","entity_name":"PIGT","entity_type":"gene"},{"created":"2020-09-30T19:46:06.436800+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4676","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigt has been classified as Green List (High Evidence).","entity_name":"PIGT","entity_type":"gene"},{"created":"2020-09-30T19:45:43.280166+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4676","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGT were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398 to Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398","entity_name":"PIGT","entity_type":"gene"},{"created":"2020-09-30T19:45:34.903646+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4675","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGT were changed from  to Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398","entity_name":"PIGT","entity_type":"gene"},{"created":"2020-09-30T19:45:18.527435+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4674","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIGT were set to ","entity_name":"PIGT","entity_type":"gene"},{"created":"2020-09-30T19:45:03.554138+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4673","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIGT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGT","entity_type":"gene"},{"created":"2020-09-30T19:44:45.039978+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4672","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIGT: Rating: GREEN; Mode of pathogenicity: None; Publications: 30976099, 25943031, 24906948, 24906948, 24906948, 28728837, 28728837, 28728837; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGT","entity_type":"gene"},{"created":"2020-09-30T19:43:49.837807+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGT were changed from  to Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM#\t615398","entity_name":"PIGT","entity_type":"gene"},{"created":"2020-09-30T19:40:50.832046+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIGT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGT","entity_type":"gene"},{"created":"2020-09-30T19:39:45.798129+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3035","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG13 as ready","entity_name":"ALG13","entity_type":"gene"},{"created":"2020-09-30T19:39:45.788571+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3035","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg13 has been classified as Green List (High Evidence).","entity_name":"ALG13","entity_type":"gene"},{"created":"2020-09-30T19:39:33.544909+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3035","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG13 were changed from  to Congenital disorder of glycosylation, type Is (MIM# 300884)","entity_name":"ALG13","entity_type":"gene"},{"created":"2020-09-30T19:39:01.846446+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3034","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALG13 were set to ","entity_name":"ALG13","entity_type":"gene"},{"created":"2020-09-30T19:38:36.402428+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3033","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALG13 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"ALG13","entity_type":"gene"},{"created":"2020-09-30T19:38:04.679310+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3032","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALG13: Rating: GREEN; Mode of pathogenicity: None; Publications: 23033978, 23934111, 24781210, 24896178, 25732998, 26138355, 26482601, 28940310, 32238909; Phenotypes: Congenital disorder of glycosylation, type Is (MIM# 300884); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"ALG13","entity_type":"gene"},{"created":"2020-09-30T19:36:12.758750+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.866","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG13 as ready","entity_name":"ALG13","entity_type":"gene"},{"created":"2020-09-30T19:36:12.740901+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.866","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg13 has been classified as Green List (High Evidence).","entity_name":"ALG13","entity_type":"gene"},{"created":"2020-09-30T19:36:09.491519+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.866","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG13 were changed from  to Congenital disorder of glycosylation, type Is (MIM# 300884)","entity_name":"ALG13","entity_type":"gene"},{"created":"2020-09-30T19:35:46.613530+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.865","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALG13 were set to ","entity_name":"ALG13","entity_type":"gene"},{"created":"2020-09-30T19:35:17.352334+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.864","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALG13 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"ALG13","entity_type":"gene"},{"created":"2020-09-30T19:34:44.874781+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.863","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALG13: Rating: GREEN; Mode of pathogenicity: None; Publications: 23033978, 23934111, 24781210, 24896178, 25732998, 26138355, 26482601, 28940310, 32238909; Phenotypes: Congenital disorder of glycosylation, type Is (MIM# 300884); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"ALG13","entity_type":"gene"},{"created":"2020-09-30T19:32:08.657943+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4672","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG13 as ready","entity_name":"ALG13","entity_type":"gene"},{"created":"2020-09-30T19:32:08.642229+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4672","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg13 has been classified as Green List (High Evidence).","entity_name":"ALG13","entity_type":"gene"},{"created":"2020-09-30T19:31:24.834838+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4672","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG13 were changed from  to Congenital disorder of glycosylation, type Is (MIM# 300884)","entity_name":"ALG13","entity_type":"gene"},{"created":"2020-09-30T19:31:08.902364+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4671","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALG13 were set to ","entity_name":"ALG13","entity_type":"gene"},{"created":"2020-09-30T19:30:52.452250+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4670","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALG13 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"ALG13","entity_type":"gene"},{"created":"2020-09-30T19:30:33.757217+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4669","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALG13: Rating: GREEN; Mode of pathogenicity: None; Publications: 23033978, 23934111, 24781210, 24896178, 25732998, 26138355, 26482601, 28940310, 32238909; Phenotypes: Congenital disorder of glycosylation, type Is (MIM# 300884); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"ALG13","entity_type":"gene"},{"created":"2020-09-30T18:31:41.423833+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ALG13: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"ALG13","entity_type":"gene"},{"created":"2020-09-30T18:31:26.883255+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALG13 were set to 22492991; 28887793; 26138355","entity_name":"ALG13","entity_type":"gene"},{"created":"2020-09-30T18:30:39.173851+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.165","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALG13 as Green List (high evidence)","entity_name":"ALG13","entity_type":"gene"},{"created":"2020-09-30T18:30:39.163880+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.165","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg13 has been classified as Green List (High Evidence).","entity_name":"ALG13","entity_type":"gene"},{"created":"2020-09-30T18:30:07.771449+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.164","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALG13: Rating: GREEN; Mode of pathogenicity: None; Publications: 23033978, 23934111, 24781210, 24896178, 25732998, 26138355, 26482601, 28940310, 32238909; Phenotypes: Congenital disorder of glycosylation, type Is (MIM# 300884); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG13","entity_type":"gene"},{"created":"2020-09-30T18:26:35.091907+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOXC1 as ready","entity_name":"FOXC1","entity_type":"gene"},{"created":"2020-09-30T18:26:35.087904+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Appears to be a distinct association but I agree, the pathogenicity of the variants is not firmly established.","entity_name":"FOXC1","entity_type":"gene"},{"created":"2020-09-30T18:26:35.058954+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxc1 has been classified as Amber List (Moderate Evidence).","entity_name":"FOXC1","entity_type":"gene"},{"created":"2020-09-30T18:26:04.573163+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOXC1 as ready","entity_name":"FOXC1","entity_type":"gene"},{"created":"2020-09-30T18:26:04.561594+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxc1 has been classified as Amber List (Moderate Evidence).","entity_name":"FOXC1","entity_type":"gene"},{"created":"2020-09-30T18:26:01.722446+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FOXC1 were changed from  to Congenital anomalies of the kidney and urinary tract (CAKUT)","entity_name":"FOXC1","entity_type":"gene"},{"created":"2020-09-30T18:25:33.262812+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FOXC1 were set to 32475988","entity_name":"FOXC1","entity_type":"gene"},{"created":"2020-09-30T18:25:12.815184+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FOXC1 were set to ","entity_name":"FOXC1","entity_type":"gene"},{"created":"2020-09-30T18:24:49.147872+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FOXC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FOXC1","entity_type":"gene"},{"created":"2020-09-30T18:23:17.303362+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4669","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BLOC1S5 as ready","entity_name":"BLOC1S5","entity_type":"gene"},{"created":"2020-09-30T18:23:17.289025+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4669","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bloc1s5 has been classified as Green List (High Evidence).","entity_name":"BLOC1S5","entity_type":"gene"},{"created":"2020-09-30T18:23:08.423597+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4669","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BLOC1S5 as Green List (high evidence)","entity_name":"BLOC1S5","entity_type":"gene"},{"created":"2020-09-30T18:23:08.403635+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4669","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bloc1s5 has been classified as Green List (High Evidence).","entity_name":"BLOC1S5","entity_type":"gene"},{"created":"2020-09-30T18:22:47.746168+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4668","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BLOC1S5 was added\ngene: BLOC1S5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: BLOC1S5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BLOC1S5 were set to 32565547\nPhenotypes for gene: BLOC1S5 were set to Hermansky–Pudlak syndrome\nReview for gene: BLOC1S5 was set to GREEN\nAdded comment: 2 unrelated patients with mild oculocutaneous albinism, moderate bleeding diathesis, platelet aggregation deficit, and a dramatically decreased number of platelet dense granules, all signs compatible with HPS. Identified distinct homozygous variants in the BLOC1S5 gene (patient 1: deletion of exons 3 and 4, patient 2: 1-bp deletion in exon 4). Parental segregation confirmatory in patient 1, quantitative PCR analysis confirmatory in patient 2). Functional tests performed on platelets of one patient displayed an absence of the obligate multisubunit complex BLOC-1, showing that the variant disrupts BLOC1S5 function and impairs BLOC-1 assembly. Expression of the patient-derived BLOC1S5 deletion in nonpigmented murine Bloc1s5-/- melan-mu melanocytes failed to rescue pigmentation, the assembly of a functional BLOC-1 complex, and melanosome cargo trafficking, unlike the wild-type allele. Pathogenic variants in the genes encoding three other BLOC-1 subunits (DTNBP1, BLOC1S3, and BLOC1S6) underlie HPS types 7, 8, and 9 respectively. \nSources: Literature","entity_name":"BLOC1S5","entity_type":"gene"},{"created":"2020-09-30T18:19:18.335406+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BLOC1S5 as ready","entity_name":"BLOC1S5","entity_type":"gene"},{"created":"2020-09-30T18:19:18.325620+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bloc1s5 has been classified as Green List (High Evidence).","entity_name":"BLOC1S5","entity_type":"gene"},{"created":"2020-09-30T18:19:09.852644+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BLOC1S5 as Green List (high evidence)","entity_name":"BLOC1S5","entity_type":"gene"},{"created":"2020-09-30T18:19:09.842068+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bloc1s5 has been classified as Green List (High Evidence).","entity_name":"BLOC1S5","entity_type":"gene"},{"created":"2020-09-30T18:16:00.358767+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BLOC1S5 as ready","entity_name":"BLOC1S5","entity_type":"gene"},{"created":"2020-09-30T18:16:00.346748+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bloc1s5 has been classified as Green List (High Evidence).","entity_name":"BLOC1S5","entity_type":"gene"},{"created":"2020-09-30T16:57:34.607530+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.84","user_name":"Sarah Donoghue","item_type":"entity","text":"gene: PGM1 was added\ngene: PGM1 was added to Dilated Cardiomyopathy. Sources: Expert Review\nMode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PGM1 were set to PMID: 31563034; PMID: 26303607PMID: 24878975; PMID: 27206562; PMID: 29858906; PMID: 32681750\nPhenotypes for gene: PGM1 were set to Dilated Cardiomyopathy; Cleft Palate; Bifid Uvula; Hypothyroidism; Hepatopathy; Elevated transaminases; Hypogonadotropic hypogonadism; Hypoglycaemia; Rhabdomyolysis; Skeletal myopathy; Malignant hypothermia; Abnormal Coagulation\nPenetrance for gene: PGM1 were set to Complete\ngene: PGM1 was marked as current diagnostic\nAdded comment: Mixed type disorder of glycosylation - may have type I/II pattern\r\nOften glycosylation abnormalities less prominent in adulthood\r\nMay also normalise with high milk intake\r\n\r\nAbnormalities of coagulation, hypothyroidism, hypogonadotrophic hypogonadism, hypoglycaemia, can have abnormal IGF1, IGFB3\r\n\r\nThis condition is treatable with galactose - may correct glycosylation abnormalities \nSources: Expert Review","entity_name":"PGM1","entity_type":"gene"},{"created":"2020-09-30T16:54:55.419508+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.13","user_name":"Sarah Donoghue","item_type":"entity","text":"gene: PGM1 was added\ngene: PGM1 was added to Cardiomyopathy_Paediatric. Sources: Expert Review\nMode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PGM1 were set to PMID: 31563034; PMID: 26303607PMID: 24878975; PMID: 27206562; PMID: 29858906; PMID: 32681750\nPhenotypes for gene: PGM1 were set to Dilated Cardiomyopathy; Cleft Palate; Bifid Uvula; Hypothyroidism; Hepatopathy; Elevated transaminases; Hypogonadotropic hypogonadism; Hypoglycaemia; Rhabdomyolysis; Skeletal myopathy; Malignant hypothermia; Abnormal Coagulation\nPenetrance for gene: PGM1 were set to Complete\nReview for gene: PGM1 was set to GREEN\ngene: PGM1 was marked as current diagnostic\nAdded comment: Mixed type disorder of glycosylation - may have type I/II pattern\r\nOften glycosylation abnormalities less prominent in adulthood\r\nMay also normalise with high milk intake\r\n\r\nAbnormalities of coagulation, hypothyroidism, hypogonadotrophic hypogonadism, hypoglycaemia, can have abnormal IGF1, IGFB3\r\n\r\nThis condition is treatable with galactose - may correct glycosylation abnormalities \nSources: Expert Review","entity_name":"PGM1","entity_type":"gene"},{"created":"2020-09-30T16:54:49.915658+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.262","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAD as ready","entity_name":"CAD","entity_type":"gene"},{"created":"2020-09-30T16:54:49.904953+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.262","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cad has been classified as Green List (High Evidence).","entity_name":"CAD","entity_type":"gene"},{"created":"2020-09-30T16:53:39.422800+10:00","panel_name":"Blepharophimosis","panel_id":55,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOXL2 as ready","entity_name":"FOXL2","entity_type":"gene"},{"created":"2020-09-30T16:53:39.412416+10:00","panel_name":"Blepharophimosis","panel_id":55,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxl2 has been classified as Green List (High Evidence).","entity_name":"FOXL2","entity_type":"gene"},{"created":"2020-09-30T16:53:37.109447+10:00","panel_name":"Blepharophimosis","panel_id":55,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FOXL2 were changed from  to Blepharophimosis, epicanthus inversus, and ptosis, type 1 with premature ovarian insufficiency (POI) and type II without POI (MIM# 110100)","entity_name":"FOXL2","entity_type":"gene"},{"created":"2020-09-30T16:53:14.737374+10:00","panel_name":"Blepharophimosis","panel_id":55,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FOXL2 were set to ","entity_name":"FOXL2","entity_type":"gene"},{"created":"2020-09-30T16:52:48.579040+10:00","panel_name":"Blepharophimosis","panel_id":55,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FOXL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FOXL2","entity_type":"gene"},{"created":"2020-09-30T16:52:06.048764+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4667","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOXL2 as ready","entity_name":"FOXL2","entity_type":"gene"},{"created":"2020-09-30T16:52:06.038729+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4667","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxl2 has been classified as Green List (High Evidence).","entity_name":"FOXL2","entity_type":"gene"},{"created":"2020-09-30T16:51:00.938818+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4667","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FOXL2 were changed from  to Blepharophimosis, epicanthus inversus, and ptosis, type 1 with premature ovarian insufficiency (POI) and type II without POI (MIM# 110100)","entity_name":"FOXL2","entity_type":"gene"},{"created":"2020-09-30T16:50:43.211054+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4666","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FOXL2 were set to ","entity_name":"FOXL2","entity_type":"gene"},{"created":"2020-09-30T16:50:26.509532+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4665","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FOXL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FOXL2","entity_type":"gene"},{"created":"2020-09-30T16:33:15.729108+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.23","user_name":"Sarah Donoghue","item_type":"entity","text":"reviewed gene: GYS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17928598, PMID: 19699667, PMID: 21958591; Phenotypes: Sudden cardiac death, skeletal myopathy, Syncope, Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"GYS1","entity_type":"gene"},{"created":"2020-09-30T16:24:22.259790+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.164","user_name":"Sarah Donoghue","item_type":"entity","text":"reviewed gene: PIGT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25943031, PMID: 24906948, PMID: 23636107, PMID: 30813157 PMID: 28728837, PMID: 27916860, PMID: 29868109, PMID: 30976099; Phenotypes: Intellectual disability, Hypotonia, Leukodystrophy, Cortical visual impairment, Strabismus, Hearing Loss, Patent Ductus Arteriosus, Cardiomyopathy, Gastroesophageal Reflux, Nephrocalcinosis, Ureteric dilatation, Slender long bones, Scoliosis, Brachycephaly, Short arms, Pectus excavated, joint hyper mobility, High forehead, bitemporal narrowing, broad nasal root, antevered nose, depressed nasal bridge, long philtrum with a deep groove, cupid bow lips; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"PIGT","entity_type":"gene"},{"created":"2020-09-30T16:00:44.654596+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.164","user_name":"Sarah Donoghue","item_type":"entity","text":"reviewed gene: ALG13: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31444733; Phenotypes: Microcephaly, infantile spasms, developmental regression, hypotonia, epileptic encephalopathy, intellectual disability; Mode of inheritance: None","entity_name":"ALG13","entity_type":"gene"},{"created":"2020-09-30T14:20:50.832642+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.70","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: FOXC1 as Amber List (moderate evidence)","entity_name":"FOXC1","entity_type":"gene"},{"created":"2020-09-30T14:20:50.824061+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.70","user_name":"Chirag Patel","item_type":"entity","text":"Gene: foxc1 has been classified as Amber List (Moderate Evidence).","entity_name":"FOXC1","entity_type":"gene"},{"created":"2020-09-30T14:19:55.202392+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.69","user_name":"Chirag Patel","item_type":"entity","text":"edited their review of gene: FOXC1: Added comment: Seven FOXC1 'pathogenic' variants in 8 CAKUT families identified through WES. All individuals carrying the FOXC1 pathogenic variants are heterozygote. There was incomplete penetrance and variable expressivity in families. None of the 7 pathogenic variants were reported before in patients with Axenfeld–Rieger syndrome, anterior segment dysgenesis, or congenital glaucoma. Two of the seven pathogenic variants are novel, i.e., they were never observed in the population database before, including the gnomAD database that collects 141,456 control individuals.34 The other five pathogenic variants, though reported in the population database, are present in less than five individuals as a heterozygote. The locations of these pathogenic variants do not cluster in the forkhead domain (where variants causing Axenfeld–Rieger syndrome or anterior segment dysgenesis are located). \r\nNB they call them pathogenic - but no documentation of ACMG criteria used.\r\n\r\nPrevious animal studies show CAKUT in homozygous and heterozygous mice.; Changed rating: AMBER; Changed publications: PMID: 32475988; Changed phenotypes: Congenital anomalies of the kidney and urinary tract (CAKUT); Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FOXC1","entity_type":"gene"},{"created":"2020-09-30T14:07:38.587902+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.14","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: BLOC1S5 as Green List (high evidence)","entity_name":"BLOC1S5","entity_type":"gene"},{"created":"2020-09-30T14:07:38.570501+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.14","user_name":"Chirag Patel","item_type":"entity","text":"Gene: bloc1s5 has been classified as Green List (High Evidence).","entity_name":"BLOC1S5","entity_type":"gene"},{"created":"2020-09-30T14:07:23.931485+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.14","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: BLOC1S5 as Green List (high evidence)","entity_name":"BLOC1S5","entity_type":"gene"},{"created":"2020-09-30T14:07:23.916069+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.14","user_name":"Chirag Patel","item_type":"entity","text":"Gene: bloc1s5 has been classified as Green List (High Evidence).","entity_name":"BLOC1S5","entity_type":"gene"},{"created":"2020-09-30T14:06:06.860135+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.201","user_name":"Chirag Patel","item_type":"entity","text":"gene: BLOC1S5 was added\ngene: BLOC1S5 was added to Bleeding Disorders. Sources: Literature\nMode of inheritance for gene: BLOC1S5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BLOC1S5 were set to PMID: 32565547\nPhenotypes for gene: BLOC1S5 were set to Hermansky–Pudlak syndrome type 11, no OMIM#\nReview for gene: BLOC1S5 was set to GREEN\ngene: BLOC1S5 was marked as current diagnostic\nAdded comment: 2 unrelated patients with mild oculocutaneous albinism, moderate bleeding diathesis, platelet aggregation deficit, and a dramatically decreased number of platelet dense granules, all signs compatible with HPS. Identified distinct homozygous variants in the BLOC1S5 gene (patient 1: deletion of exons 3 and 4, patient 2: 1-bp deletion in exon 4). Parental segregation confirmatory in patient 1,  quantitative PCR analysis confirmatory in patient 2).\r\n\r\nFunctional tests performed on platelets of one patient displayed an absence of the obligate multisubunit complex BLOC-1, showing that the variant disrupts BLOC1S5 function and impairs BLOC-1 assembly. Expression of the patient-derived BLOC1S5 deletion in nonpigmented murine Bloc1s5-/- melan-mu melanocytes failed to rescue pigmentation, the assembly of a functional BLOC-1 complex, and melanosome cargo trafficking, unlike the wild-type allele.\r\n\r\nPathogenic variants in the genes encoding three other BLOC-1 subunits (DTNBP1, BLOC1S3, and BLOC1S6) underlie HPS types 7, 8, and 9 respectively. \nSources: Literature","entity_name":"BLOC1S5","entity_type":"gene"},{"created":"2020-09-30T14:05:49.103572+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.201","user_name":"Chirag Patel","item_type":"entity","text":"gene: BLOC1S5 was added\ngene: BLOC1S5 was added to Bleeding Disorders. Sources: Literature\nMode of inheritance for gene: BLOC1S5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BLOC1S5 were set to PMID: 32565547\nPhenotypes for gene: BLOC1S5 were set to Hermansky–Pudlak syndrome type 11, no OMIM#\nReview for gene: BLOC1S5 was set to GREEN\ngene: BLOC1S5 was marked as current diagnostic\nAdded comment: 2 unrelated patients with mild oculocutaneous albinism, moderate bleeding diathesis, platelet aggregation deficit, and a dramatically decreased number of platelet dense granules, all signs compatible with HPS. Identified distinct homozygous variants in the BLOC1S5 gene (patient 1: deletion of exons 3 and 4, patient 2: 1-bp deletion in exon 4). Parental segregation confirmatory in patient 1,  quantitative PCR analysis confirmatory in patient 2).\r\n\r\nFunctional tests performed on platelets of one patient displayed an absence of the obligate multisubunit complex BLOC-1, showing that the variant disrupts BLOC1S5 function and impairs BLOC-1 assembly. Expression of the patient-derived BLOC1S5 deletion in nonpigmented murine Bloc1s5-/- melan-mu melanocytes failed to rescue pigmentation, the assembly of a functional BLOC-1 complex, and melanosome cargo trafficking, unlike the wild-type allele.\r\n\r\nPathogenic variants in the genes encoding three other BLOC-1 subunits (DTNBP1, BLOC1S3, and BLOC1S6) underlie HPS types 7, 8, and 9 respectively. \nSources: Literature","entity_name":"BLOC1S5","entity_type":"gene"},{"created":"2020-09-30T14:05:47.620691+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.13","user_name":"Chirag Patel","item_type":"entity","text":"gene: BLOC1S5 was added\ngene: BLOC1S5 was added to Ocular and Oculocutaneous Albinism. Sources: Literature\nMode of inheritance for gene: BLOC1S5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BLOC1S5 were set to PMID: 32565547\nPhenotypes for gene: BLOC1S5 were set to Hermansky–Pudlak syndrome type 11, no OMIM#\nReview for gene: BLOC1S5 was set to GREEN\ngene: BLOC1S5 was marked as current diagnostic\nAdded comment: 2 unrelated patients with mild oculocutaneous albinism, moderate bleeding diathesis, platelet aggregation deficit, and a dramatically decreased number of platelet dense granules, all signs compatible with HPS. Identified distinct homozygous variants in the BLOC1S5 gene (patient 1: deletion of exons 3 and 4, patient 2: 1-bp deletion in exon 4). Parental segregation confirmatory in patient 1,  quantitative PCR analysis confirmatory in patient 2).\r\n\r\nFunctional tests performed on platelets of one patient displayed an absence of the obligate multisubunit complex BLOC-1, showing that the variant disrupts BLOC1S5 function and impairs BLOC-1 assembly. Expression of the patient-derived BLOC1S5 deletion in nonpigmented murine Bloc1s5-/- melan-mu melanocytes failed to rescue pigmentation, the assembly of a functional BLOC-1 complex, and melanosome cargo trafficking, unlike the wild-type allele.\r\n\r\nPathogenic variants in the genes encoding three other BLOC-1 subunits (DTNBP1, BLOC1S3, and BLOC1S6) underlie HPS types 7, 8, and 9 respectively. \nSources: Literature","entity_name":"BLOC1S5","entity_type":"gene"},{"created":"2020-09-30T13:46:48.251665+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.262","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: CAD as Green List (high evidence)","entity_name":"CAD","entity_type":"gene"},{"created":"2020-09-30T13:46:48.237173+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.262","user_name":"Chirag Patel","item_type":"entity","text":"Gene: cad has been classified as Green List (High Evidence).","entity_name":"CAD","entity_type":"gene"},{"created":"2020-09-30T13:46:37.198666+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.261","user_name":"Chirag Patel","item_type":"entity","text":"gene: CAD was added\ngene: CAD was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAD were set to PMID: 32820246\nPhenotypes for gene: CAD were set to Epileptic encephalopathy, early infantile, 50; OMIM # 616457\nReview for gene: CAD was set to GREEN\ngene: CAD was marked as current diagnostic\nAdded comment: 2020 series: 6/20 patients reported had ataxia relating to cerebellar atrophy, which is an expansion to the phenotype. \nSources: Literature","entity_name":"CAD","entity_type":"gene"},{"created":"2020-09-30T13:35:52.939698+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.125","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: C9orf72 as No list","entity_name":"C9orf72","entity_type":"gene"},{"created":"2020-09-30T13:35:52.926933+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.125","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: c9orf72 has been removed from the panel.","entity_name":"C9orf72","entity_type":"gene"},{"created":"2020-09-30T12:58:00.786750+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.124","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ATN1 as No list","entity_name":"ATN1","entity_type":"gene"}]}