{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=563","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=561","results":[{"created":"2023-08-10T13:58:12.264805+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.256","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TTR were changed from Cardiomyopathy; Amyloidogenic transthyretin amyloidosis; HSAN/SFN to Amyloidosis, hereditary, transthyretin-related MIM#105210; Cardiomyopathy; Amyloidogenic transthyretin amyloidosis; HSAN/SFN","entity_name":"TTR","entity_type":"gene"},{"created":"2023-08-10T13:57:53.950886+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TTR were set to ","entity_name":"TTR","entity_type":"gene"},{"created":"2023-08-10T13:57:19.857339+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.254","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SUCLA2 as ready","entity_name":"SUCLA2","entity_type":"gene"},{"created":"2023-08-10T13:57:19.847053+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.254","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sucla2 has been classified as Amber List (Moderate Evidence).","entity_name":"SUCLA2","entity_type":"gene"},{"created":"2023-08-10T13:57:16.907449+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.254","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SUCLA2 were changed from ‘Leigh’-like syndrome, deafness, progressive dystonia, mild methylmaolnic acidaemia, peripheral neuropathy to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (MONDO:0012791; MIM#612073); ‘Leigh’-like syndrome, deafness, progressive dystonia, mild methylmaolnic acidaemia, peripheral neuropathy","entity_name":"SUCLA2","entity_type":"gene"},{"created":"2023-08-10T13:56:57.351328+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.253","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SUCLA2 were set to ","entity_name":"SUCLA2","entity_type":"gene"},{"created":"2023-08-10T13:56:35.062722+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.252","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SUCLA2 as Amber List (moderate evidence)","entity_name":"SUCLA2","entity_type":"gene"},{"created":"2023-08-10T13:56:35.049016+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.252","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sucla2 has been classified as Amber List (Moderate Evidence).","entity_name":"SUCLA2","entity_type":"gene"},{"created":"2023-08-10T13:56:16.584338+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.251","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SUCLA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35235001; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (MONDO:0012791, MIM#612073); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SUCLA2","entity_type":"gene"},{"created":"2023-08-10T13:51:48.125933+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1107","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PSMC3 were changed from Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354 to neurodevelopmental disorder, MONDO:0700092, PSMC3-related; Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354","entity_name":"PSMC3","entity_type":"gene"},{"created":"2023-08-10T13:51:18.348323+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1106","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PSMC3 were set to 32500975","entity_name":"PSMC3","entity_type":"gene"},{"created":"2023-08-10T13:50:42.941782+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1105","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PSMC3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PSMC3","entity_type":"gene"},{"created":"2023-08-10T13:50:22.519633+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1104","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PSMC3 as Green List (high evidence)","entity_name":"PSMC3","entity_type":"gene"},{"created":"2023-08-10T13:50:22.508679+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1104","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psmc3 has been classified as Green List (High Evidence).","entity_name":"PSMC3","entity_type":"gene"},{"created":"2023-08-10T13:50:01.945011+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1103","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PSMC3: Added comment: PMID:37256937 - 23 individuals with neurodevelopmental disorder was identified with 15 different de novo missense variants. Apart from one child (patient 2), all others had developmental delay characterised by speech delay (19/19) alone or with intellectual disability (16/18) and motor delay (15/19). In addition, structural modeling as well as proteomic and transcriptomic analyses of T cells derived from patients with PSMC3 variants implicated the PSMC3 variants in proteasome dysfunction through disruption of substrate translocation, induction of proteotoxic stress, and alterations in proteins controlling developmental and innate immune program.; Changed rating: GREEN; Changed publications: 32500975, 37256937; Changed phenotypes: neurodevelopmental disorder, MONDO:0700092, PSMC3-related, Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PSMC3","entity_type":"gene"},{"created":"2023-08-10T13:47:21.846336+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5332","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PSMC3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PSMC3","entity_type":"gene"},{"created":"2023-08-10T13:46:41.903517+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5331","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PSMC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PSMC3","entity_type":"gene"},{"created":"2023-08-10T13:45:11.354447+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5330","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PSMC3 were changed from Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354 to neurodevelopmental disorder, MONDO:0700092, PSMC3-related; Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354","entity_name":"PSMC3","entity_type":"gene"},{"created":"2023-08-10T13:41:00.563282+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5329","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PSMC3 were set to 32500975","entity_name":"PSMC3","entity_type":"gene"},{"created":"2023-08-10T13:40:01.451462+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5328","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PSMC3 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PSMC3","entity_type":"gene"},{"created":"2023-08-10T13:39:20.131431+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5327","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PSMC3 as Green List (high evidence)","entity_name":"PSMC3","entity_type":"gene"},{"created":"2023-08-10T13:39:20.121997+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5327","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psmc3 has been classified as Green List (High Evidence).","entity_name":"PSMC3","entity_type":"gene"},{"created":"2023-08-10T13:33:51.511724+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.251","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SOX10 as ready","entity_name":"SOX10","entity_type":"gene"},{"created":"2023-08-10T13:33:51.497839+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.251","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sox10 has been classified as Green List (High Evidence).","entity_name":"SOX10","entity_type":"gene"},{"created":"2023-08-10T13:33:48.388872+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.251","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SOX10 were changed from PCWH syndrome, 609136; Waardenburg syndrome, type 4C, 613266; Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; HMSN to PCWH Syndrome (MIM#609136; MONDO:0012198); Waardenburg syndrome, type 4C, 613266; Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; HMSN","entity_name":"SOX10","entity_type":"gene"},{"created":"2023-08-10T13:33:36.306193+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.250","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SOX10 were set to ","entity_name":"SOX10","entity_type":"gene"},{"created":"2023-08-10T13:32:53.337521+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SNAP29 as ready","entity_name":"SNAP29","entity_type":"gene"},{"created":"2023-08-10T13:32:53.327994+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snap29 has been classified as Green List (High Evidence).","entity_name":"SNAP29","entity_type":"gene"},{"created":"2023-08-10T13:32:50.475259+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SNAP29 were changed from Cerebral Dysgenesis and severe psychomotor retardation, axonal sensory-motor Neuropathy, Ichthyosis, palmoplantar Keratoderma, fatal by second decade of life to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK) Syndrome (MONDO:0012290) (MIM#609528); Cerebral Dysgenesis and severe psychomotor retardation, axonal sensory-motor Neuropathy, Ichthyosis, palmoplantar Keratoderma, fatal by second decade of life","entity_name":"SNAP29","entity_type":"gene"},{"created":"2023-08-10T13:32:32.868281+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.248","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SNAP29 were set to ","entity_name":"SNAP29","entity_type":"gene"},{"created":"2023-08-10T13:31:53.737120+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.247","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC52A3 as ready","entity_name":"SLC52A3","entity_type":"gene"},{"created":"2023-08-10T13:31:53.723409+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.247","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc52a3 has been classified as Green List (High Evidence).","entity_name":"SLC52A3","entity_type":"gene"},{"created":"2023-08-10T13:31:48.232249+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.247","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC52A3 were changed from dHMN; Brown-Vialetto-Van Laere syndrome 1; Fazio-Londe disease to Brown-Vialetto-Van Laere syndrome 1 (MIM#211530); dHMN; Brown-Vialetto-Van Laere syndrome 1; Fazio-Londe disease","entity_name":"SLC52A3","entity_type":"gene"},{"created":"2023-08-10T13:31:27.238634+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.246","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC52A3 were set to ","entity_name":"SLC52A3","entity_type":"gene"},{"created":"2023-08-10T13:29:55.629888+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1103","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EMC1 were set to 26942288; 29271071","entity_name":"EMC1","entity_type":"gene"},{"created":"2023-08-10T13:29:30.871625+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1102","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EMC1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EMC1","entity_type":"gene"},{"created":"2023-08-10T13:28:41.891786+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5326","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EMC1 were set to 26942288; 29271071","entity_name":"EMC1","entity_type":"gene"},{"created":"2023-08-10T13:28:05.255671+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5325","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EMC1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EMC1","entity_type":"gene"},{"created":"2023-08-10T13:27:04.146594+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.245","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC52A2 as ready","entity_name":"SLC52A2","entity_type":"gene"},{"created":"2023-08-10T13:27:04.136194+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.245","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc52a2 has been classified as Green List (High Evidence).","entity_name":"SLC52A2","entity_type":"gene"},{"created":"2023-08-10T13:27:00.863025+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.245","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC52A2 were changed from Brown-Vialetto-Van Laere syndrome 2 to Brown-Vialetto-van Laere syndrome 2 (BVVLS2) (MONDO:0013867)","entity_name":"SLC52A2","entity_type":"gene"},{"created":"2023-08-10T13:26:38.148519+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.244","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC52A2 were set to ","entity_name":"SLC52A2","entity_type":"gene"},{"created":"2023-08-10T13:25:38.895476+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCYL1 as ready","entity_name":"SCYL1","entity_type":"gene"},{"created":"2023-08-10T13:25:38.881900+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scyl1 has been classified as Green List (High Evidence).","entity_name":"SCYL1","entity_type":"gene"},{"created":"2023-08-10T13:25:30.555558+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCYL1 were changed from Spinocerebellar ataxia, autosomal recessive 21; Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy to Spinocerebellar ataxia, autosomal recessive 21 (MIM#616719); acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome (MONDO:0014744); Spinocerebellar ataxia, autosomal recessive 21; Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy","entity_name":"SCYL1","entity_type":"gene"},{"created":"2023-08-10T13:25:11.069069+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.242","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SCYL1 were set to ","entity_name":"SCYL1","entity_type":"gene"},{"created":"2023-08-10T13:24:20.895939+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.241","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SACS as ready","entity_name":"SACS","entity_type":"gene"},{"created":"2023-08-10T13:24:20.882034+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.241","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sacs has been classified as Green List (High Evidence).","entity_name":"SACS","entity_type":"gene"},{"created":"2023-08-10T13:24:16.716882+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.241","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SACS were changed from Spastic ataxia Charlevoix-Saguenay type; HMSN to Charlevoix-Saguenay spastic ataxia (MONDO:0010041; MIM#270550)","entity_name":"SACS","entity_type":"gene"},{"created":"2023-08-10T13:23:53.116783+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.240","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SACS were set to ","entity_name":"SACS","entity_type":"gene"},{"created":"2023-08-10T13:23:34.179354+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.239","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: SACS.","entity_name":"SACS","entity_type":"gene"},{"created":"2023-08-10T13:21:50.369119+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.239","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTRH2 as ready","entity_name":"PTRH2","entity_type":"gene"},{"created":"2023-08-10T13:21:50.356568+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.239","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptrh2 has been classified as Green List (High Evidence).","entity_name":"PTRH2","entity_type":"gene"},{"created":"2023-08-10T13:21:47.370851+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.239","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTRH2 were changed from Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy to Infantile multisystem neurologic, endocrine, and pancreatic disease (IMNPED) (MIM#616263); Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy","entity_name":"PTRH2","entity_type":"gene"},{"created":"2023-08-10T13:21:29.739679+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.238","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PTRH2 were set to ","entity_name":"PTRH2","entity_type":"gene"},{"created":"2023-08-10T12:11:05.847169+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.237","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: XK: Rating: GREEN; Mode of pathogenicity: None; Publications: 11761473; Phenotypes: McLeod syndrome with or without chronic granulomatous disease (MIM#300842); 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":"XK","entity_type":"gene"},{"created":"2023-08-10T11:48:29.033428+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.237","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: None; Publications: 25254289, 25355836, 27650058, 28178980; Phenotypes: Perrault syndrome (MIM#616138); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TWNK","entity_type":"gene"},{"created":"2023-08-10T11:11:24.563862+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.237","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: TUBB3: Rating: AMBER; Mode of pathogenicity: None; Publications: 20074521; Phenotypes: Fibrosis of extraocular muscles, congenital, 3A (MIM#600638); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"TUBB3","entity_type":"gene"},{"created":"2023-08-10T10:36:05.748069+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.237","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301373, 8071954, 19180884, 24101130; Phenotypes: Amyloidosis, hereditary, transthyretin-related MIM#105210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TTR","entity_type":"gene"},{"created":"2023-08-10T09:47:07.435885+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.237","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: SUCLA2: Rating: RED; Mode of pathogenicity: None; Publications: 20301762; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (MONDO:0012791, MIM#612073); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SUCLA2","entity_type":"gene"},{"created":"2023-08-09T21:06:15.726853+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5324","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"reviewed gene: PSMC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 37256937; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PSMC3","entity_type":"gene"},{"created":"2023-08-09T15:16:34.633951+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.237","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: SOX10: Rating: AMBER; Mode of pathogenicity: None; Publications: 15004559; Phenotypes: PCWH Syndrome (MIM#609136, MONDO:0012198); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"SOX10","entity_type":"gene"},{"created":"2023-08-09T14:59:22.890512+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.237","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: SNAP29: Rating: AMBER; Mode of pathogenicity: None; Publications: 33977139; Phenotypes: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK) Syndrome  (MONDO:0012290) (MIM#609528); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SNAP29","entity_type":"gene"},{"created":"2023-08-09T14:30:27.632011+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.237","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: SLC52A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20206331; Phenotypes: Brown-Vialetto-Van Laere syndrome 1 (MIM#211530); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC52A3","entity_type":"gene"},{"created":"2023-08-09T14:03:12.353138+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1101","user_name":"Chern Lim","item_type":"entity","text":"edited their review of gene: EMC1: Changed rating: GREEN","entity_name":"EMC1","entity_type":"gene"},{"created":"2023-08-09T14:03:00.888986+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1101","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: EMC1: Rating: ; Mode of pathogenicity: None; Publications: 35234901, 26942288; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"EMC1","entity_type":"gene"},{"created":"2023-08-09T14:01:06.421173+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5324","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: EMC1: Rating: ; Mode of pathogenicity: None; Publications: 35234901, 26942288; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"EMC1","entity_type":"gene"},{"created":"2023-08-09T13:35:55.234112+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.237","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22740598, 24253200; Phenotypes: Brown-Vialetto-van Laere syndrome 2 (BVVLS2) (MONDO:0013867); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC52A2","entity_type":"gene"},{"created":"2023-08-09T13:17:21.547526+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.237","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: SCYL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26581903, 30531813; Phenotypes: Spinocerebellar ataxia, autosomal recessive 21 (MIM#616719), acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome (MONDO:0014744); Mode of inheritance: None","entity_name":"SCYL1","entity_type":"gene"},{"created":"2023-08-09T12:38:10.528336+10:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2023-08-09T12:11:31.076670+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.237","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301432, 20876471; Phenotypes: Charlevoix-Saguenay spastic ataxia (MONDO:0010041, MIM#270550); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SACS","entity_type":"gene"},{"created":"2023-08-09T11:08:55.182581+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.237","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: PTRH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25574476, 27129381, 28328138; Phenotypes: Infantile multisystem neurologic, endocrine, and pancreatic disease (IMNPED) (MIM#616263); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PTRH2","entity_type":"gene"},{"created":"2023-08-08T19:10:03.298035+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.186","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SYNE1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis multiplex congenita 3, myogenic type MIM#618484, Emery-Dreifuss muscular dystrophy 4, autosomal dominant MIM#612998, Spinocerebellar ataxia, autosomal recessive 8 MIM#610743; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SYNE1","entity_type":"gene"},{"created":"2023-08-08T19:02:47.901208+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RELA as ready","entity_name":"RELA","entity_type":"gene"},{"created":"2023-08-08T19:02:47.887697+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rela has been classified as Green List (High Evidence).","entity_name":"RELA","entity_type":"gene"},{"created":"2023-08-08T19:02:38.176422+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RELA were changed from periodic fever, inflammatory bowel disease, JIA to Mucocutaneous ulceration, chronic, MIM# 618287; periodic fever, inflammatory bowel disease, JIA","entity_name":"RELA","entity_type":"gene"},{"created":"2023-08-08T19:02:07.104061+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RELA as Green List (high evidence)","entity_name":"RELA","entity_type":"gene"},{"created":"2023-08-08T19:02:07.091870+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rela has been classified as Green List (High Evidence).","entity_name":"RELA","entity_type":"gene"},{"created":"2023-08-08T19:01:38.106723+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RELA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucocutaneous ulceration, chronic, MIM# 618287; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RELA","entity_type":"gene"},{"created":"2023-08-08T19:01:03.593123+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.43","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RELA were set to 28600438; 29305315","entity_name":"RELA","entity_type":"gene"},{"created":"2023-08-08T19:00:29.212367+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.42","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RELA as Green List (high evidence)","entity_name":"RELA","entity_type":"gene"},{"created":"2023-08-08T19:00:29.197373+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.42","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rela has been classified as Green List (High Evidence).","entity_name":"RELA","entity_type":"gene"},{"created":"2023-08-08T18:59:47.186147+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.41","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RELA: Added comment: Additional 6 individuals from five families reported.; Changed rating: GREEN; Changed publications: 28600438, 29305315, 37273177; Changed phenotypes: Mucocutaneous ulceration, chronic, MIM# 618287, Impaired NFkB activation, reduced production of inflammatory cytokines, autoimmune cytopaenias","entity_name":"RELA","entity_type":"gene"},{"created":"2023-08-08T18:59:10.360166+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1101","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RELA were set to 28600438; 29305315","entity_name":"RELA","entity_type":"gene"},{"created":"2023-08-08T18:58:47.831082+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1100","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RELA as Green List (high evidence)","entity_name":"RELA","entity_type":"gene"},{"created":"2023-08-08T18:58:47.821636+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1100","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rela has been classified as Green List (High Evidence).","entity_name":"RELA","entity_type":"gene"},{"created":"2023-08-08T18:58:24.784666+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Additional 6 individuals from two families reported.; to: Additional 6 individuals from five families reported.","entity_name":"RELA","entity_type":"gene"},{"created":"2023-08-08T18:58:16.164757+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1099","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Additional 6 individuals from two families reported.; to: Additional 6 individuals from five families reported.","entity_name":"RELA","entity_type":"gene"},{"created":"2023-08-08T18:58:06.398495+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1099","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RELA: Added comment: Additional 6 individuals from two families reported.; Changed rating: GREEN; Changed publications: 28600438, 29305315, 37273177; Changed phenotypes: Mucocutaneous ulceration, chronic, MIM# 618287, Impaired NFkB activation, reduced production of inflammatory cytokines, autoimmune cytopaenias","entity_name":"RELA","entity_type":"gene"},{"created":"2023-08-08T18:57:19.110449+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RELA as ready","entity_name":"RELA","entity_type":"gene"},{"created":"2023-08-08T18:57:19.096886+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rela has been classified as Green List (High Evidence).","entity_name":"RELA","entity_type":"gene"},{"created":"2023-08-08T18:57:16.405519+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RELA were changed from Inflammatory bowel disease to Mucocutaneous ulceration, chronic, MIM# 618287; Inflammatory bowel disease","entity_name":"RELA","entity_type":"gene"},{"created":"2023-08-08T18:49:42.680148+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RELA as Green List (high evidence)","entity_name":"RELA","entity_type":"gene"},{"created":"2023-08-08T18:49:42.667951+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rela has been classified as Green List (High Evidence).","entity_name":"RELA","entity_type":"gene"},{"created":"2023-08-08T18:49:12.163097+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RELA: Added comment: Additional 6 individuals from two families reported.; Changed rating: GREEN; Changed publications: 37273177","entity_name":"RELA","entity_type":"gene"},{"created":"2023-08-08T18:48:03.985783+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RELA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucocutaneous ulceration, chronic, MIM# 618287; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RELA","entity_type":"gene"},{"created":"2023-08-08T18:45:02.572478+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.237","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NGLY1 as ready","entity_name":"NGLY1","entity_type":"gene"},{"created":"2023-08-08T18:45:02.553653+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.237","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ngly1 has been classified as Green List (High Evidence).","entity_name":"NGLY1","entity_type":"gene"},{"created":"2023-08-08T18:44:55.489609+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.237","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NGLY1 were changed from Developmental delay, choreoathetosis, alacrimia, seizures, microcephaly, transaminitis, neuropathy to Congenital disorder of deglycosylation 1 (CDDG1) (MIM#615273); Developmental delay, choreoathetosis, alacrimia, seizures, microcephaly, transaminitis, neuropathy","entity_name":"NGLY1","entity_type":"gene"},{"created":"2023-08-08T18:44:34.364171+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.236","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NGLY1 were set to ","entity_name":"NGLY1","entity_type":"gene"}]}