{"count":220363,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=38","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=36","results":[{"created":"2026-02-07T11:28:15.073156+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT)","panel_id":63,"panel_version":"0.166","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CDX2 was added\ngene: CDX2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services\nMode of inheritance for gene: CDX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDX2 were set to 29177441; 34671974\nPhenotypes for gene: CDX2 were set to Genetic multiple congenital anomalies/dysmorphic syndrome, MONDO:0043005; Congenital abnormalities of anus, renal and urogenital system, vertebrae and/or the limbs","entity_name":"CDX2","entity_type":"gene"},{"created":"2026-02-07T11:27:38.026843+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT)","panel_id":63,"panel_version":"0.166","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene BNC2 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:27:37.856699+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT)","panel_id":63,"panel_version":"0.166","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BNC2 was added\ngene: BNC2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Expert list,Expert Review Green,Literature\nMode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BNC2 were set to PMID: 31656805, 31051115\nPhenotypes for gene: BNC2 were set to Lower urinary tract obstruction, congenital; OMIM #618612","entity_name":"BNC2","entity_type":"gene"},{"created":"2026-02-07T11:26:36.962404+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT)","panel_id":63,"panel_version":"0.165","user_name":"Bryony Thompson","item_type":"panel","text":"Added reviews for gene FOXC1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:24:47.711370+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT)","panel_id":63,"panel_version":"0.164","user_name":"Bryony Thompson","item_type":"panel","text":"Added reviews for gene FOXC1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:23:34.291475+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT)","panel_id":63,"panel_version":"0.163","user_name":"Bryony Thompson","item_type":"panel","text":"Panel name changed from Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic to Congenital anomalies of the kidney and urinary tract (CAKUT)\nPanel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:14:38.274711+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.178","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene YARS from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:14:38.123128+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.178","user_name":"Bryony Thompson","item_type":"entity","text":"gene: YARS was added\ngene: YARS was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: YARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: YARS were set to 16429158; 24354524; 31587308; 26725087\nPhenotypes for gene: YARS were set to Charcot-Marie-Tooth disease, dominant intermediate C, MIM# 608323; MONDO:0012012","entity_name":"YARS","entity_type":"gene"},{"created":"2026-02-07T11:14:20.142158+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.177","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene WNK1 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:14:19.994165+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.177","user_name":"Bryony Thompson","item_type":"entity","text":"gene: WNK1 was added\ngene: WNK1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WNK1 were set to 15060842; 15911806; 15455397; 16534117\nPhenotypes for gene: WNK1 were set to HSAN/SFN; Neuropathy, hereditary sensory and autonomic, type II, MIM# 201300; MONDO:0024309","entity_name":"WNK1","entity_type":"gene"},{"created":"2026-02-07T11:13:51.546500+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.176","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene VWA1 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:13:51.386593+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.176","user_name":"Bryony Thompson","item_type":"entity","text":"gene: VWA1 was added\ngene: VWA1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature\nMode of inheritance for gene: VWA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VWA1 were set to 33459760; 33693694; 33559681\nPhenotypes for gene: VWA1 were set to Hereditary motor neuropathy","entity_name":"VWA1","entity_type":"gene"},{"created":"2026-02-07T11:13:35.720298+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.175","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene VRK1 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:13:35.473758+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.175","user_name":"Bryony Thompson","item_type":"entity","text":"gene: VRK1 was added\ngene: VRK1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VRK1 were set to 31560180; 32242460; 31178479; 31837156; 30847374\nPhenotypes for gene: VRK1 were set to Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542","entity_name":"VRK1","entity_type":"gene"},{"created":"2026-02-07T11:13:17.984549+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.174","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene VCP from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:13:17.840393+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.174","user_name":"Bryony Thompson","item_type":"entity","text":"gene: VCP was added\ngene: VCP was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: VCP were set to 25125609; 25878907; 32165109\nPhenotypes for gene: VCP were set to Charcot-Marie-Tooth disease, type 2Y, MIM# 616687\nMode of pathogenicity for gene: VCP was set to Other","entity_name":"VCP","entity_type":"gene"},{"created":"2026-02-07T11:12:47.678022+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.173","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene VAPB from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:12:47.536788+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.173","user_name":"Bryony Thompson","item_type":"entity","text":"gene: VAPB was added\ngene: VAPB was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: VAPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: VAPB were set to 15372378; 32162544; 28993872; 28173107; 26566915\nPhenotypes for gene: VAPB were set to Adult proximal spinal muscular atrophy, autosomal dominant; dHMN/dSMA; Spinal muscular atrophy, late-onset, Finkel type, MIM# 182980","entity_name":"VAPB","entity_type":"gene"},{"created":"2026-02-07T11:12:30.520302+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.172","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene UBA1 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:12:30.373059+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.172","user_name":"Bryony Thompson","item_type":"entity","text":"gene: UBA1 was added\ngene: UBA1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: UBA1 were set to 18179898; 32181232; 31932168; 29034082; 27699224; 26028276; 23518311\nPhenotypes for gene: UBA1 were set to dHMN/dSMA; Spinal muscular atrophy, X-linked 2, MIM# 301830","entity_name":"UBA1","entity_type":"gene"},{"created":"2026-02-07T11:11:59.995888+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.171","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene TRPV4 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:11:59.852824+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.171","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TRPV4 was added\ngene: TRPV4 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TRPV4 were set to HMSN, dHMN/dSMA; Hereditary motor and sensory neuropathy, type IIc, MIM# 606071; Neuronopathy, distal hereditary motor, type VIII, MIM# 600175","entity_name":"TRPV4","entity_type":"gene"},{"created":"2026-02-07T11:11:35.414362+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.171","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene TRIM2 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:11:32.468416+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.171","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TRIM2 was added\ngene: TRIM2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TRIM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRIM2 were set to 23562820; 25893792; 18687884; 32815244; 32205255; 25893792\nPhenotypes for gene: TRIM2 were set to Charcot-Marie-Tooth disease, type 2R, MIM# 615490; MONDO:0014208; HMSN","entity_name":"TRIM2","entity_type":"gene"},{"created":"2026-02-07T11:10:58.288392+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.170","user_name":"Bryony Thompson","item_type":"panel","text":"Added reviews for gene TFG from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:10:35.175235+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.169","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene TFG from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:10:34.430254+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.169","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TFG was added\ngene: TFG was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TFG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TFG were set to 25098539; 23553329; 22883144; 31449671; 31111683\nPhenotypes for gene: TFG were set to Hereditary motor and sensory neuropathy, Okinawa type, MIM# 604484","entity_name":"TFG","entity_type":"gene"},{"created":"2026-02-07T11:09:09.854137+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.168","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene SYT2 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:09:09.716936+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.168","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SYT2 was added\ngene: SYT2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SYT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SYT2 were set to 25192047; 30533528; 26519543\nPhenotypes for gene: SYT2 were set to Myasthenic syndrome, congenital, 7, presynaptic; HMSN","entity_name":"SYT2","entity_type":"gene"},{"created":"2026-02-07T11:08:54.816129+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.167","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene SPTLC2 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:08:54.599727+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.167","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SPTLC2 was added\ngene: SPTLC2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SPTLC2 were set to 20920666; 23658386; 31509666; 30866134\nPhenotypes for gene: SPTLC2 were set to Neuropathy, hereditary sensory and autonomic, type IC, 613640; MONDO:0013337; HSAN/SFN","entity_name":"SPTLC2","entity_type":"gene"},{"created":"2026-02-07T11:08:38.966430+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.167","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene SPTLC1 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:08:38.829141+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.167","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SPTLC1 was added\ngene: SPTLC1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SPTLC1 were set to 11242114; 11242106; 15037712; 26681808\nPhenotypes for gene: SPTLC1 were set to Juvenile amyotrophic lateral sclerosis-27, MIM#620285; HSAN/SFN; Hereditary Sensory and Autonomic Neuropathy, Type II; Neuropathy, hereditary sensory and autonomic, type IA, 162400","entity_name":"SPTLC1","entity_type":"gene"},{"created":"2026-02-07T11:08:18.610850+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.166","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene SPTAN1 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:08:18.465448+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.166","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SPTAN1 was added\ngene: SPTAN1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature\nMode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SPTAN1 were set to 33578420; 31332438\nPhenotypes for gene: SPTAN1 were set to Neuronopathy, distal hereditary motor, 11, autosomal dominant, MIM# 620528\nPenetrance for gene: SPTAN1 were set to Incomplete","entity_name":"SPTAN1","entity_type":"gene"},{"created":"2026-02-07T11:07:58.529994+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.165","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene SPG11 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:07:58.375625+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.165","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SPG11 was added\ngene: SPG11 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPG11 were set to 26556829; 33581793\nPhenotypes for gene: SPG11 were set to HMSN; Hereditary Neuropathies; axonal Charcot-Marie-Tooth disease type 2X; MONDO:0014726","entity_name":"SPG11","entity_type":"gene"},{"created":"2026-02-07T11:07:43.629997+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.165","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene SORD from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:07:43.243788+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.165","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SORD was added\ngene: SORD was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature\nMode of inheritance for gene: SORD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SORD were set to 32367058\nPhenotypes for gene: SORD were set to isolated hereditary neuropathy; Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORDDPN), MIM#618912","entity_name":"SORD","entity_type":"gene"},{"created":"2026-02-07T11:06:56.063430+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.164","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene SMN1 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:06:55.916307+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.164","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SMN1 was added\ngene: SMN1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nSV/CNV tags were added to gene: SMN1.\nMode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SMN1 were set to Spinal muscular atrophy-1, MIM# 253300; Spinal muscular atrophy-2, MIM# 253550; Spinal muscular atrophy-3, MIM# 253400; Spinal muscular atrophy-4, MIM# 271150","entity_name":"SMN1","entity_type":"gene"},{"created":"2026-02-07T11:06:35.578868+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.163","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene SLC5A7 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:06:35.440887+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.163","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SLC5A7 was added\ngene: SLC5A7 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SLC5A7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC5A7 were set to 23141292; 15173594; 29782645; 29582019\nPhenotypes for gene: SLC5A7 were set to Neuronopathy, distal hereditary motor, type VIIA, MIM# 158580; MONDO:0008024","entity_name":"SLC5A7","entity_type":"gene"},{"created":"2026-02-07T11:06:16.080451+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.162","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene SIGMAR1 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:06:15.932831+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.162","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SIGMAR1 was added\ngene: SIGMAR1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SIGMAR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SIGMAR1 were set to 31511340\nPhenotypes for gene: SIGMAR1 were set to ?Distal spinal muscular atrophy, autosomal recessive 2; dHMN/dSMA; Distal hereditary motor neuropathy of Jerash type (HMNJ)","entity_name":"SIGMAR1","entity_type":"gene"},{"created":"2026-02-07T11:05:50.676296+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.161","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene SH3TC2 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:05:50.387089+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.161","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SH3TC2 was added\ngene: SH3TC2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SH3TC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SH3TC2 were set to 19744956; 20220177; 19744956; 20028792\nPhenotypes for gene: SH3TC2 were set to HMSN; Charcot Marie Tooth disease, type 4C, 601596; Mononeuropathy of the median nerve, mild, 613353","entity_name":"SH3TC2","entity_type":"gene"},{"created":"2026-02-07T11:05:30.334624+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.160","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene SEPT9 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:05:30.190944+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.160","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SEPT9 was added\ngene: SEPT9 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nSV/CNV, 5'UTR, founder, new gene name tags were added to gene: SEPT9.\nMode of inheritance for gene: SEPT9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SEPT9 were set to 16186812; 19451530; 19939853; 19139049\nPhenotypes for gene: SEPT9 were set to Amyotrophy, hereditary neuralgic, MIM# 162100; HMSN","entity_name":"SEPT9","entity_type":"gene"},{"created":"2026-02-07T11:05:13.325095+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.159","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene SCO2 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:05:13.153032+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.159","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SCO2 was added\ngene: SCO2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCO2 were set to 29351582; 31844624; 35112411\nPhenotypes for gene: SCO2 were set to autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect MONDO:0033850","entity_name":"SCO2","entity_type":"gene"},{"created":"2026-02-07T11:04:48.318381+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.158","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene SCN9A from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:04:48.178764+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.158","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SCN9A was added\ngene: SCN9A was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: SCN9A were set to Erythermalgia, primary, MIM# 133020; Insensitivity to pain, congenital, MIM# 243000; Neuropathy, hereditary sensory and autonomic, type IID, MIM# 243000; Paroxysmal extreme pain disorder, MIM# 167400; Small fiber neuropathy,MIM# 133020","entity_name":"SCN9A","entity_type":"gene"},{"created":"2026-02-07T11:04:29.473485+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.157","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene SCN11A from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:04:29.331571+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.157","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SCN11A was added\ngene: SCN11A was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SCN11A were set to 24036948; 25118027; 30395542; 33884296; 32831372; 30046661\nPhenotypes for gene: SCN11A were set to Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548; MONDO:0014244","entity_name":"SCN11A","entity_type":"gene"},{"created":"2026-02-07T11:04:11.801596+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.156","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene SCN10A from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:04:11.653410+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.156","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SCN10A was added\ngene: SCN10A was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SCN10A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SCN10A were set to 23115331; 33775738; 30731422; 30554136\nPhenotypes for gene: SCN10A were set to HSAN/SFN; Episodic pain syndrome, familial, 2, 615551","entity_name":"SCN10A","entity_type":"gene"},{"created":"2026-02-07T11:03:32.686242+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.155","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene SBF2 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:03:32.282345+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.155","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SBF2 was added\ngene: SBF2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SBF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SBF2 were set to 12554688; 15477569; 12687498; 15304601; 31772832; 31070812\nPhenotypes for gene: SBF2 were set to HMSN; Charcot Marie Tooth disease, type 4B2, MIM#604563","entity_name":"SBF2","entity_type":"gene"},{"created":"2026-02-07T11:03:03.685521+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.154","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene SARS from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:03:03.469517+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.154","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SARS was added\ngene: SARS was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature,Expert Review Green,Literature\nMode of inheritance for gene: SARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SARS were set to 36088542\nPhenotypes for gene: SARS were set to Genetic peripheral neuropathy MONDO#0020127, SARS1-related","entity_name":"SARS","entity_type":"gene"},{"created":"2026-02-07T11:02:06.527698+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.153","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene RTN2 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:02:06.235196+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.153","user_name":"Bryony Thompson","item_type":"entity","text":"gene: RTN2 was added\ngene: RTN2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature\nMode of inheritance for gene: RTN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RTN2 were set to 38527963\nPhenotypes for gene: RTN2 were set to Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity, MIM# 620854","entity_name":"RTN2","entity_type":"gene"},{"created":"2026-02-07T11:01:48.228132+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.152","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene RETREG1 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:01:48.062617+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.152","user_name":"Bryony Thompson","item_type":"entity","text":"gene: RETREG1 was added\ngene: RETREG1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RETREG1 were set to 19838196; 24327336; 31737055; 31596031\nPhenotypes for gene: RETREG1 were set to Neuropathy, hereditary sensory and autonomic, type IIB, 613115; HSAN/SFN","entity_name":"RETREG1","entity_type":"gene"},{"created":"2026-02-07T11:01:26.168659+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.151","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene REEP1 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:01:26.020209+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.151","user_name":"Bryony Thompson","item_type":"entity","text":"gene: REEP1 was added\ngene: REEP1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: REEP1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: REEP1 were set to 27066569; 31872057; 22703882; 29124833\nPhenotypes for gene: REEP1 were set to Spinal muscular atrophy, distal, autosomal recessive, 6, MIM#620011; Neuronopathy, distal hereditary motor, type VB MIM#614751; Spastic paraplegia 31, autosomal dominant MIM#610250\nMode of pathogenicity for gene: REEP1 was set to Other","entity_name":"REEP1","entity_type":"gene"},{"created":"2026-02-07T11:00:55.815484+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.150","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene RCC1 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:00:55.649737+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.150","user_name":"Bryony Thompson","item_type":"entity","text":"gene: RCC1 was added\ngene: RCC1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: RCC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RCC1 were set to 40683276\nPhenotypes for gene: RCC1 were set to Infection-induced acute-onset axonal neuropathy, MIM# 621333","entity_name":"RCC1","entity_type":"gene"},{"created":"2026-02-07T11:00:35.179671+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.149","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene RAB7A from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:00:34.952951+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.149","user_name":"Bryony Thompson","item_type":"entity","text":"gene: RAB7A was added\ngene: RAB7A was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: RAB7A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAB7A were set to 12545426; 17060578; 32326241; 29130394; 25614874\nPhenotypes for gene: RAB7A were set to Charcot-Marie-Tooth disease, type 2B, MIM# 600882; MONDO:0010949","entity_name":"RAB7A","entity_type":"gene"},{"created":"2026-02-07T11:00:03.244006+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.148","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene PRX from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T11:00:03.083750+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.148","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PRX was added\ngene: PRX was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PRX was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRX were set to 11133365; 11157804; 15197604; 21079185; 22847150; 10839370; 32460404; 31523542; 31426691\nPhenotypes for gene: PRX were set to Charcot-Marie-Tooth disease type 4 MONDO:0018995","entity_name":"PRX","entity_type":"gene"},{"created":"2026-02-07T10:59:10.577744+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.147","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene PRPS1 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T10:59:10.436956+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.147","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PRPS1 was added\ngene: PRPS1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PRPS1 were set to 17701900; 24285972; 25491489; 25182139\nPhenotypes for gene: PRPS1 were set to Charcot Marie Tooth disease, X linked recessive, 5, 311070; HMSN","entity_name":"PRPS1","entity_type":"gene"},{"created":"2026-02-07T10:58:36.592171+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.146","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene PRDM12 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T10:58:36.432331+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.146","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PRDM12 was added\ngene: PRDM12 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRDM12 were set to 26005867; 33789102; 33010785; 32828702\nPhenotypes for gene: PRDM12 were set to Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488; MONDO:0014662; HSAN/SFN","entity_name":"PRDM12","entity_type":"gene"},{"created":"2026-02-07T10:58:15.710183+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.145","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene PMP22 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T10:58:15.553077+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.145","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PMP22 was added\ngene: PMP22 was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert Review Green,Royal Melbourne Hospital,Victorian Clinical Genetics Services\nSV/CNV tags were added to gene: PMP22.\nMode of inheritance for gene: PMP22 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PMP22 were set to Charcot Marie Tooth disease, type 1A, 118220; Roussy Levy syndrome, 180800; Neuropathy, inflammatory demyelinating, 139393; Neuropathy, recurrent, with pressure palsies, 162500; Charcot Marie Tooth disease, type 1E, 118300; Dejerine Sottas disease, 145900; HMSN","entity_name":"PMP22","entity_type":"gene"},{"created":"2026-02-07T10:57:44.777298+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.144","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene PLEKHG5 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T10:57:43.785166+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.144","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PLEKHG5 was added\ngene: PLEKHG5 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PLEKHG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLEKHG5 were set to 17564964; 23777631; 23844677; 33492783; 33275839; 33220101; 23777631\nPhenotypes for gene: PLEKHG5 were set to hereditary peripheral neuropathy MONDO:0020127, PLEKHG5-related","entity_name":"PLEKHG5","entity_type":"gene"},{"created":"2026-02-07T10:57:13.484148+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.143","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene PDK3 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T10:57:13.336647+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.143","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PDK3 was added\ngene: PDK3 was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: PDK3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: PDK3 were set to 23297365; 26801680; 27388934; 28902413\nPhenotypes for gene: PDK3 were set to Charcot-Marie-Tooth disease, X-linked dominant, 6 MIM#300905; HMSN","entity_name":"PDK3","entity_type":"gene"},{"created":"2026-02-07T10:56:45.916015+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.142","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene NGF from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T10:56:45.658647+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.142","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NGF was added\ngene: NGF was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: NGF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NGF were set to 14976160; 20978020; 33884296; 32693191; 31685654; 30296891\nPhenotypes for gene: NGF were set to HSAN/SFN; Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654; MONDO:0012092","entity_name":"NGF","entity_type":"gene"},{"created":"2026-02-07T10:56:25.929594+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.141","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene NEFL from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T10:56:25.788050+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.141","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NEFL was added\ngene: NEFL was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: NEFL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: NEFL were set to 10841809; 12393795; 14733962; 24887401; 25877835; 20039262; 12566280; 29191368; 28902413\nPhenotypes for gene: NEFL were set to Charcot Marie Tooth disease, type 2E, 607684; Charcot-Marie-Tooth disease, dominant intermediate G, 617882; HMSN; Charcot Marie Tooth disease, type 1F, 607734","entity_name":"NEFL","entity_type":"gene"},{"created":"2026-02-07T10:55:37.566710+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.140","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene NEFH from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T10:55:37.426155+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.140","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NEFH was added\ngene: NEFH was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: NEFH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NEFH were set to 30992180; 27040688; 28709447\nPhenotypes for gene: NEFH were set to Charcot-Marie-Tooth disease, axonal, type 2CC, 616924; HMSN","entity_name":"NEFH","entity_type":"gene"},{"created":"2026-02-07T10:54:36.033949+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.139","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene NDRG1 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T10:54:35.854238+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.139","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NDRG1 was added\ngene: NDRG1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nfounder tags were added to gene: NDRG1.\nMode of inheritance for gene: NDRG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDRG1 were set to 10831399; 24136616; 33334662; 29724652; 29174527; 28776325\nPhenotypes for gene: NDRG1 were set to HMSN; Charcot Marie Tooth disease, type 4D, 601455; MONDO:0011085","entity_name":"NDRG1","entity_type":"gene"},{"created":"2026-02-07T10:54:12.393563+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.138","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene MTMR2 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T10:54:12.253639+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.138","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MTMR2 was added\ngene: MTMR2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: MTMR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTMR2 were set to 10802647; 16249189; 33653949; 32586600; 32488727; 31680794\nPhenotypes for gene: MTMR2 were set to Charcot-Marie-Tooth disease, type 4B1, 601382; HMSN; MONDO:0011066","entity_name":"MTMR2","entity_type":"gene"},{"created":"2026-02-07T10:53:47.560549+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.137","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene MPZ from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T10:53:47.426283+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.137","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MPZ was added\ngene: MPZ was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: MPZ was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: MPZ were set to 19293842\nPhenotypes for gene: MPZ were set to Charcot Marie Tooth disease, dominant intermediate D, 60779; Neuropathy, congenital hypomyelinating, 605253; Charcot Marie Tooth disease, type 2J, 607736; Dejerine Sottas disease, 145900; Charcot Marie Tooth disease, type 1B, 118200; Charcot Marie Tooth disease, type 2I, 607677; HMSN","entity_name":"MPZ","entity_type":"gene"},{"created":"2026-02-07T10:53:30.818755+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.136","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene MPV17 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T10:53:30.676578+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.136","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MPV17 was added\ngene: MPV17 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MPV17 were set to 22508010; 26437932; 30298599\nPhenotypes for gene: MPV17 were set to HMSN; Charcot-Marie-Tooth disease, axonal, type 2EE, MIM# 618400","entity_name":"MPV17","entity_type":"gene"},{"created":"2026-02-07T10:53:05.251671+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.135","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene MME from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T10:53:05.108442+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.135","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MME was added\ngene: MME was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital,Royal Melbourne Hospital,GeneReviews\nMode of inheritance for gene: MME was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: MME were set to 26991897; 27588448; 33144514; 31429185\nPhenotypes for gene: MME were set to Charcot-Marie-Tooth disease, axonal, type 2T, MIM# 617017; MONDO:0014866","entity_name":"MME","entity_type":"gene"},{"created":"2026-02-07T10:52:45.074201+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.134","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene MFN2 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null}]}